# 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;OTTHUMP00000024008;OTTHUMP00000024009;OTTHUMP00000226557;OTTHUMP00000230753;apoptosis-inducing factor 1, mitochondrial;neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome);programmed cell death 8 (apoptosis-inducing factor);striatal apoptosis-inducing factor APPROVED protein-coding ENSG00000156709 HGNC:8768 02161 300169;300816;310490 REVIEWED 1346253 AIH3 amelogenesis imperfecta 3, hypomaturation or hypoplastic type ASSOCIATED WITH AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 (inferred) 7240710 1358807 201 HGNC:355 301201 1346084 AIG1 androgen-induced 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; aflatoxin B1 6 6 6 q24.2 144122434 144401847 + 143381979 143661441 + 143059363 143340343 + 1580863;6480464 10810093;11266118;11329013;12477932;14574404;14702039;15489334;16344560;20379614;21622095;21988832;8125298;8889548 51390 Q5T2H0;Q5T2H3;Q5T2H4;Q5THU2;Q9NVV5 ABBA01025751;AF151861;AF153605;AJ420480;AK001347;AK222475;AK298533;AL023581;AL136116;AL391726;AL450335;AMYH02014631;AMYH02014632;AMYH02014633;AMYH02014634;BC009559;BC025278;BF725860;BG196820;BM977237;BX538067;BX640703;CA431282;CH471051;DB154031;KF458306;NM_001286587;NM_001286588;NM_001286589;NM_016108;XM_005267010 AAD34098;AAD41087;AAH25278;ABM84217;ABM87621;BAA91640;BAD96195;BAG60734;CAD97997;CAE45823;EAW47869;EAW47870;NP_001273516;NP_001273517;NP_001273518;NP_057192;Q9NVV5;XP_005267067 Hs.567501 1662775;1668386;1669565;1688576;1689251;1698122;1700444;1718791;1773931;1785880;2126095;2141101;2141103;5022578;5037552 A005R11;D1S1423;D6S1854;D8S2279;G20433;L18072;RH102594;RH103843;RH123099;RH12623;RH68631;RH91918;RH92672;SHGC-132024;STS-H95238 AIG-1;DKFZp686F03136;FLJ10485;RP1-95L4.1;dJ95L4.1 OTTHUMP00000017323;OTTHUMP00000017324;OTTHUMP00000017325;OTTHUMP00000017327;OTTHUMP00000017328;androgen induced protein (AIG-1), C-terminus truncated;androgen-induced gene 1 protein protein-coding ENSG00000146416 HGNC:21607 16346 608514 VALIDATED 1316387 AIM2 absent in melanoma 2 AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008] 1 1 1 q22 132102542 132116908 - 159028790 159046685 - 159058999 159076894 - 1580863;5490211;6480464 20303873 10828447;12477932;15076139;15582594;16432157;16710414;17726700;18029348;19158675;19158676;19158679;19293232;19795419;20401524;20595294;21471287;21550598;21804607;21883803;22092578;22140256;22320325;22483801;22869553;23171461;23251661;23376086;23479181;23530044;23764897;23790454;23811549;23864729;24164899;24244322;24419611;24971542;8700511;9242382;9865494 9447 O14862;Q5T3W0 ABBA01016620;ABBA01016621;AF024714;AK292042;AL359753;AMYH02002009;BC010940;CH471121;NM_004833;U52053;XM_005245616;XM_005245617;XM_006711633;XR_241107;XR_241108 AAB81613;AAH10940;BAF84731;EAW52795;NP_004824;O14862;XP_005245673;XP_005245674;XP_006711696 Hs.733411 PYHIN4 OTTHUMP00000035296;interferon-inducible protein AIM2 APPROVED protein-coding ENSG00000163568 HGNC:357 05202 604578 REVIEWED 1318501 AIM1L absent in melanoma 1-like ENCODES a protein that exhibits carbohydrate binding (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; copper(2+) sulfate 1 1 1 p36.11 25044670 25076960 - 26648350 26680621 - 26321859 26354130 - 6480464 12477932;14702039;15203218;16344560;16710414;17672918;21906983;23251661;8401585;9716656 55057 E7ET48;E7EX92;E9PIR9;J3KQW1;Q5T144;Q8N1P7;Q9NWG5 ABBA01034904;ABBA01034905;ABBA01034906;ABBA01034907;AK000902;AK095339;AL137264;AL451139;AMYH02000562;BC136870;CD628848;CD628851;CH471059;DA439029;DA456217;DR004727;NM_001039775;XM_005245918 AAI36871;BAA91416;BAC04533;CAB70663;EAX07819;NP_001034864;Q8N1P7;XP_005245975 Hs.128738 2124721 RH69989 CRYBG2;DKFZp434L1713;FLJ10040;FLJ38020 OTTHUMP00000003569;absent in melanoma 1-like protein;beta-gamma crystallin domain containing 2;beta/gamma crystallin domain-containing protein 2 protein-coding ENSG00000176092 HGNC:17295 09794 VALIDATED 1318513 AIM1 absent in melanoma 1 ENCODES a protein that exhibits carbohydrate binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); Oculocutaneous Albinism, Type IV (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 6 6 6 q21 107580963 107639255 + 106808683 107018335 + 106360808 106570460 + 1580863;6480464;7240710;8554872 10737800;12477932;12693952;14574404;14702039;16511323;1680551;17434096;17903293;18582473;19194464;19910543;20379614;20834067;21145461;22127895;22402438;22505724;22761906;24094292;24816145;8700511;9096375 202 B3KPT0;Q96QW7;Q9Y4K1 AA574200;ABBA01026195;ABBA01026196;AI765826;AK025693;AK056705;AK125137;AK297008;AK300443;AK316287;AL109920;AL359292;AL390074;AMYH02014241;AMYH02014242;BC062788;BF743639;CH471051;CV573838;HA637632;KF458246;KF458249;NM_001624;U83115;U83116;XM_005266839 AAB53791;AAB53792;AAH62788;AAI56647;BAG51792;BAG54152;BAG59543;BAG62166;BAH14658;CAZ39538;EAW48412;EAW48413;NP_001615;Q9Y4K1;XP_005266896 Hs.724262;Hs.744905 1661055;1671375;1703904 D6S1886;D6S2123;SHGC-83606 CRYBG1;ST4 OTTHUMP00000016924;absent in melanoma 1 protein;beta-gamma crystallin domain containing 1;beta/gamma crystallin domain-containing protein 1;suppression of tumorigenicity 4 (malignant melanoma) protein-coding ENSG00000112297 HGNC:356 18576 227240;601797;606574 VALIDATED 1352273 AIMP1P1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 1 20 20 20 p12.1 14183350 14184432 + 14107977 14109059 + 14127331 14128413 + 20677014 170547 ABBA01053978;AL136992;AMYH02036728;NG_001053 SCYE1P;bA400P21.1 APPROVED pseudo HGNC:16543 INFERRED 6480382 AIMP1P2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 2 1 1 q24.3 172855087 172855398 - 172885947 172886258 - 100873064 ABBA01027913;AMYH02002150;NG_032149;Z97198 pseudo HGNC:43693 INFERRED 1344147 AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008] 4 4 4 q24 104536003 104569617 + 107236767 107270382 + 106315610 106349225 + 724676;1580021;1580863;6480464;8699517;7240710;8554872 12429238;14732363 10358004;10409428;10852899;11157763;11306575;11714285;11741979;12161535;12477932;12543078;12729910;12819782;1400342;14500886;14588117;14688335;14702039;14982944;15489334;15857508;15935955;16055448;16196087;16344560;16615114;16674941;17018011;17051333;17303557;17443684;18448069;18621627;18951814;19002109;19362550;19460752;19565673;19573982;19917687;19946888;20332099;20413730;20429837;20510162;21047177;21092922;21139048;21145461;21416500;21576822;21789020;21832049;21890473;21906983;22190034;22412987;22505724;22767513;22863883;22939629;23000965;23082492;23398456;23672191;24816145;25015289;7545917;7929199;8052601;8078941;8188258;8449960;9278442;9368021;9405472;9878398 9255 B4DNK3;D6R937;Q12904 ABBA01063740;AC093680;AK095951;AK297950;AK303965;AMYH02009855;AMYH02009856;AY527272;BC014051;BG941396;BI258927;BM314663;BQ447202;CH471057;CR542281;DA211424;DC358150;NG_028166;NM_001142415;NM_001142416;NM_004757;U10117 AAA62202;AAH14051;ABM84225;ABM87736;BAG53174;BAG60265;BAG64889;CAG47076;EAX06203;EAX06204;NP_001135887;NP_001135888;NP_004748;Q12904 Hs.591680 1678349;1700696;1754375;1798132;2114733;2124662;2126138;2149743;2159558 G35299;RH103971;RH93669;SCYE1_2292;SHGC-132391;SHGC-24759;SHGC-57456;SHGC-59700;SHGC-67688 EMAP2;EMAPII;HLD3;SCYE1;p43 ARS-interacting multifunctional protein 1;OTTHUMP00000161877;OTTHUMP00000161878;OTTHUMP00000219673;aminoacyl tRNA synthase complex-interacting multifunctional protein 1;endothelial monocyte-activating polypeptide 2;endothelial-monocyte activating polypeptide II;multisynthase complex auxiliary component p43;multisynthetase complex auxiliary component p43;small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) APPROVED protein-coding ENSG00000164022 HGNC:10648 04676 260600;603605 REVIEWED 1603320 AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged in a tail-to-tail fashion. JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite direction compared to HRI and PMS2. The function of the JTV1 gene product is unknown. [provided by RefSeq, Jul 2008] 7 7 7 p22 6673238 6687807 - 6048882 6063465 + 6009251 6023834 + 6480464;8554872 10913161;11714285;12477932;12690205;12729910;12783850;12819782;12853948;15479637;15489334;16049031;16055448;16125937;16135753;16189514;1651330;16714300;17512523;18676680;18695251;18781797;19060904;19170196;19584093;19625176;19692168;19738201;19946888;21044950;21110914;21139048;21209200;21483803;21832049;21890473;21900206;21988832;22190034;22285955;22532625;22562359;22684553;22751010;22863883;22939629;23000965;23815603;23824909;23974709;24250222;24654937;24816145;600859;8052601;8078941;8188258;8449960;8666379;9278442;9878398 7965 A8MU58;F8W950;F8WCL2;Q13155 ABBA01029369;ABBA01029370;AC005995;AF116615;AK313037;AMYH02015163;AMYH02015164;BC002853;BC010156;BC013630;CH236963;CH878731;NM_006303;U24169;XM_005249847;XM_005249848;XM_005249850;XM_006715772 AAC50391;AAF71039;AAH02853;AAH10156;AAH13630;AAS00389;BAG35870;EAL23713;EAW55053;EAW55054;NP_006294;Q13155;XP_005249904;XP_005249905;XP_005249907;XP_006715835 Hs.301613;Hs.520205 1646772;1712220;2117616;2159210 D7S2761;G54017;RH12212;SHGC-37403 JTV-1;JTV1;P38;PRO0992 ARS-interacting multi-functional protein 2;OTTHUMP00000151158;OTTHUMP00000201310;OTTHUMP00000201311;aminoacyl tRNA synthase complex-interacting multifunctional protein 2;multisynthase complex auxiliary component p38;multisynthetase complex auxiliary component p38 APPROVED protein-coding ENSG00000106305 HGNC:20609 02915 600859 VALIDATED 1354071 AIP aryl hydrocarbon receptor interacting protein The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. [provided by RefSeq, Sep 2008] 11 11 11 q13.3 64584240 64592315 + 67250505 67258579 + 67483034 67491108 + 1580863;6480464;7240710;8554872;8699517 10690880;10986286;11013261;11259606;11805120;12036304;12065584;12361709;12477932;12482853;12721663;12810716;12837759;14557246;14730974;15489334;15592455;16257957;16582008;16728643;16807248;16936638;17018653;17242703;17244780;17299063;17329248;17341560;17360484;17609395;17613551;17893251;17914118;17916996;18029348;18381572;18410548;18484068;18628514;18710468;19188737;19366855;19375531;19390533;19474519;19556287;19684062;19794292;19883897;19910549;20029029;20211142;20354355;20506337;20507346;20530095;20595802;20634891;20661446;20685857;21078971;21139048;21170051;21208107;21340155;21450940;21512261;21546764;21753072;21903422;21906983;21984905;21988832;22026581;22113938;22319033;22420004;22505724;22720333;22811466;22863883;22915287;22939629;23000965;23038625;23300914;23321498;23371967;23418749;23418784;23455922;23633209;24025584;24078436;24250222;24255178;24778252;24816145;25036637;7961671;8889548;8972861;9083006;9111057;9447995;9837941 9049 E9PMH2;O00170;V9GYQ3 ABBA01024030;AM236341;AMYH02024997;AP001184;AP003419;BC104797;BC104827;BG821308;BU689235;CH471076;CN480874;EF203238;GQ847771;KF455413;NG_008969;NM_003977;U31913;U78521 AAB39923;AAB59004;AAI04798;AAI04828;ABO16001;ABZ92142;ACX54433;CAJ85657;EAW74637;NP_003968;O00170 Hs.412433 1646139;1655588;1686356;1772643;2217000 AIP_2914;RH47507;RH71222;STS-W15227;WI-14069 ARA9;FKBP16;FKBP37;SMTPHN;XAP-2;XAP2 AH receptor-interacting protein;HBV X-associated protein 2;HBV-X associated protein;OTTHUMP00000236411;OTTHUMP00000236412;aryl hydrocarbon receptor-interacting protein;aryl-hydrocarbon receptor interacting protein;aryl-hydrocarbon receptor-interacting protein;immunophilin homolog ARA9 APPROVED protein-coding ENSG00000110711 HGNC:358 10408 102200;219090;600634;605555 REVIEWED 1322440 AIRE autoimmune regulator This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012] 21 21 21 q22.3 30811017 30823364 + 45705721 45718102 + 44285838 44298219 + 1599008;1580863;2306853;6480464;6907045;7240710;8554872;8699517 18399912;9921903 10677297;10748110;10830953;11274163;11275943;11298085;11524731;11524733;11533054;11600535;11803052;11836330;12050215;12173302;12477932;12542742;12625412;12651856;12929931;14734522;14974083;15150263;15157567;15482854;15649886;15696198;15712268;15886230;15894121;15964547;16114041;16246524;16310047;16313305;16552513;16774540;16890195;17101293;17118990;17220063;17255364;17323409;17474147;17675238;17687331;17697502;17850514;17928069;17938200;17974569;17997173;18029348;18083234;18194361;18200029;18292755;18320920;18324482;18461357;18568643;18600308;18606876;18616706;18616774;18682433;19124002;19209622;19261265;19264985;19265170;19322061;19328411;19446523;19744957;19758376;19807739;19811436;19863576;20085707;20093495;20140861;20185822;20218732;20226168;20363194;20407862;20453472;20494980;20602615;20718774;20734064;20850570;20953165;21048031;21102544;21197407;21356351;21505073;21508664;21724609;21740349;21856934;21962774;22024611;22036612;22104652;22310661;22344197;22377300;22447927;22490868;22613203;22659170;23074189;23077531;23083345;23256763;23319629;23342054;23443559;23456700;23589212;23620608;23643663;23697860;23954874;24275490;24464130;24708100;7987397;9267805;9398839;9398840;9717837;9735375;9888391;9931333;9931335 326 O43918 AB006682;AB006683;AB006684;AB006685;ABBA01074161;ABBA01074162;AJ009610;AK309572;AMYH02037909;AP001060;AP001754;BC137268;BC137270;BC142608;CH471079;NG_009556;NM_000383;XM_005261110;Z97990 AAI37269;AAI37271;BAA23988;BAA23989;BAA23990;BAA23991;BAA23992;BAA23993;BAA95560;CAA08759;CAB10790;EAX09441;EAX09443;NP_000374;O43918;XP_005261167 Hs.129829 1793952 PMC310701P3 AIRE1;APS1;APSI;PGA1 APECED;OTTHUMP00000109528;OTTHUMP00000109529;autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein;autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) APPROVED protein-coding ENSG00000160224 HGNC:360 06301 240300;607358 REVIEWED 735610 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 17 17 17 p13.1 6347578 6359034 - 6327057 6338576 - 6423737 6435199 - 1599003;70801;1580863;6480464;7240710;8554872;8696011;8699517;8696012 10615133;10873396;19710705;24736053 10331942;11548141;11929855;12015276;12374762;12477932;12881340;14555765;14611946;14638743;14702039;15024725;15081406;15180275;15249368;15270697;15347646;15365173;15469903;15489334;15512997;15691574;16020312;16052170;16272259;16563381;17200655;17249560;17249611;17286855;17326818;18055816;18055820;18408180;18632300;18682808;18936139;19753312;19758987;19840725;19951596;19959640;20042464;20065226;20079931;20301475;20301590;20702822;20801516;21044950;21474771;21602930;21697133;21900377;22347407;22412862;23418749;23734073;23737531;24066033;24093488;24108108;24664679;8889548 23746 F1T0B5;F1T0B6;F1T0C0;F1T0C4;I3L3R9;J3KPI5;K7EPF4;Q6ZZB5;Q7Z3H1;Q9NZN9 AB593042;AB593043;AB593044;AB593045;AB593046;AB593047;AB593048;AB593049;AB593050;AB593051;AB593052;AB593053;AB593054;AB593055;ABBA01054828;AC055872;AF038437;AF148864;AF180472;AF525970;AJ633677;AJ633678;AJ830742;AJ830743;AK023970;AK314558;AMYH02032873;BC007994;BC012055;BE778451;BM685943;BQ638961;BU737234;BX537907;BX647279;BX953335;CH471108;DQ426860;NG_008474;NM_001033054;NM_001033055;NM_001285399;NM_001285400;NM_001285401;NM_001285402;NM_001285403;NM_014336 AAF26708;AAF74023;AAH12055;AAM88405;AAQ13422;ABM83186;ABM86388;BAB14744;BAG37143;BAJ83989;BAJ83990;BAJ83991;BAJ83992;BAJ83993;BAJ83994;BAJ83995;BAJ83996;BAJ83997;BAJ83998;BAJ83999;BAJ84000;BAJ84001;BAJ84002;CAD97892;CAG17882;CAG17883;CAH25995;CAH25996;EAW90310;EAW90311;EAW90312;EAW90313;EAW90314;EAW90315;NP_001028226;NP_001028227;NP_001272328;NP_001272329;NP_001272330;NP_001272331;NP_001272332;NP_055151;Q9NZN9 Hs.279887 1336063;1711382;1711426;2114096;2164410;2169948 AIPL1;G10693;G42173;G42198;RH78637;STS-AA019599 AIPL2;LCA4 OTTHUMP00000128207;aryl hydrocarbon receptor-interacting protein-like 1;aryl-hydrocarbon-interacting protein-like 1 APPROVED protein-coding ENSG00000129221 HGNC:359 05092 604392;604393 REVIEWED 1349404 AIS1 autoimmune susceptibility 1 ASSOCIATED WITH AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 (inferred) 7240710 11912181;12707860 373071 1334633;1341142 D1S2742;D1S515 HGNC:16304 607836 1346674 AIS2 autoimmune susceptibility 2 ASSOCIATED WITH AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2 (inferred) 7240710 14691733 378426 7186484 D7S669 HGNC:23054 608391 1342580 AIS3 autoimmune susceptibility 3 (vitiligo specific) ASSOCIATED WITH AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3 (inferred) 7240710 14691733 378427 1340103 D8S505 HGNC:23083 608392 2306132 AIRN antisense of IGF2R non-protein coding RNA Both spliced and un-spliced long non-coding RNAs are transcribed from this gene. This gene overlaps on the opposite strand the second intron of the insulin-like growth factor 2 receptor gene; a CpG island associated with the second intron denotes an active promoter that drives the expression of this gene. The related mouse gene is responsible for silencing the insulin-like growth factor 2 receptor gene and flanking genes in the imprinted gene cluster of mice. This gene may be expressed in Wilms tumors. [provided by RefSeq, Feb 2013] 6 6 q26 160424323 160428696 - 160003291 160007664 - 6480464 11329013;18789384;19008856;21345374;21915889;22396659 100271873 ABBA01021058;AL035691;AMYH02014877;AW008515;BG216164;HG499843;NR_047511;NR_047514 Hs.742166 AIR;IGF2R-AS;IGF2R-AS1;IGF2RAS;NCRNA00088 APPROVED ncrna ENSG00000268257 HGNC:34515 604893 REVIEWED 1343876 AJUBA ajuba LIM protein ENCODES a protein that exhibits alpha-catenin binding; transcription corepressor activity; INVOLVED IN gene silencing by miRNA; negative regulation of hippo signaling; positive regulation of gene silencing by miRNA; PARTICIPATES IN E-cadherin signaling pathway; FOUND IN cell-cell junction; cytoplasmic mRNA processing body; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 3,4-dichloroaniline 14 14 14 q11.2 3303299 3314741 - 23440386 23451851 - 22971174 22982642 - 1580863;6480464;6484113 10330178;11029037;11860269;12417594;12477932;13678582;14702039;15728191;15778465;15870270;15870274;16413547;16712791;16713569;17621269;18331720;18347060;18710370;18805794;20133701;20508983;21139048;22105346;22286099;23704328;24673742;24680704 84962 G3V481;G3V5F5;H0YJL9;Q96IF1 AA909473;ABBA01061298;AK025567;AK096128;AL132780;AMYH02028858;AW615335;AY169959;BC007580;BC016733;BC034968;BU543883;BX109281;CB105505;CH471078;NM_001289097;NM_032876;NM_198086 AAH07580;AAH34968;AAO37641;ABM84439;ABM87485;BAG53217;EAW66204;EAW66205;NP_001276026;NP_116265;NP_932352;Q96IF1 Hs.655832 1721981;2143018;2174639;2178680;5491427 G59876;MARC_11631-11632:1002817108:1;RH47855;RH68535;WI-17421 JUB;MGC15563 LIM domain-containing protein ajuba;OTTHUMP00000027924;OTTHUMP00000164552;OTTHUMP00000246052;OTTHUMP00000246053;OTTHUMP00000246054;jub, ajuba homolog APPROVED protein-coding ENSG00000129474 HGNC:20250 16426 609066 VALIDATED 1603390 AJAP1 adherens junctions associated protein 1 INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (+)-catechin; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; all-trans-retinoic acid 1 1 1 p36.32 3826971 3955676 + 4715105 4843851 + 4655045 4783791 + 6480464;8554872 12477932;14595118;16410724;16707570;17267690;18485053;19240061;19515834;19850283;20467438;21439246;22241217;23064961;23793025;8619474;9110174 55966 Q9UKB5 ABBA01014088;ABBA01014089;ABBA01014090;AF052143;AF175409;AL023586;AL049672;AL049673;AL391808;AMYH02000152;AMYH02000153;AY282806;BC041648;CH471130;NM_001042478;NM_018836;Z98886 AAD53278;AAI60124;AAP35025;CAB41245;CAB41246;EAW71504;NP_001035943;NP_061324;Q9UKB5 Hs.25924 1336058;1703228;1733174;1766901;1773444;1850263;5105873 D1S1475;D1S2660;G09820;SGC32361;SHGC-151204;SHGC-152353;SHGC-74142 MOT8;RP3-426F10.1;SHREW-1;SHREW1 OTTHUMP00000000694;OTTHUMP00000000695;adherens junction associated protein 1;adherens junction-associated protein 1;membrane protein shrew-1;transmembrane protein SHREW1 protein-coding ENSG00000196581 HGNC:30801 15339 610972 VALIDATED 735291 AK2 adenylate kinase 2 Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010] 1 1 1 p34 31743797 31772701 - 33473541 33502512 - 33007940 33036911 - 1300048;5490520;6480464;6907045;7240710;8554872;8699517 16167529 10218571;12477932;14702039;15489334;15862967;16344560;16710414;17643375;17952061;18404568;19043416;19043417;19471022;195572;20877624;21139048;21145461;21693764;21890473;21906983;21963094;21988832;22505724;22939629;23824909;23874603;24583282;24816145;6182143;6961883;8843353;9434148;9504408 204 F8VPP1;F8VY04;F8VZG5;F8W1A4;G3V213;P54819 AB005621;AB005622;AB451267;AB451394;ABBA01023387;AK023758;AK291676;AK295105;AK296863;AK297036;AK307731;AL020995;AMYH02000726;AY080899;AY080900;BC009405;BC026705;BC070127;BC090040;BX504559;CH471059;DB206302;DC422465;NG_016269;NM_001199199;NM_001625;NM_013411;NR_037591;NR_037592;U39945;U54645;U84371;XR_246248 AAB41790;AAC13881;AAC52061;AAH09405;AAH70127;AAH90040;AAL87027;AAL87028;BAC16747;BAC16748;BAF84365;BAG58139;BAG59426;BAG59564;BAG70081;BAG70208;EAX07483;EAX07484;EAX07485;EAX07486;NP_001186128;NP_001616;NP_037543;P54819 Hs.470907 1336168;1338346;1682503;1696682;1739207;1793106;2110247;2117612;2136560;2151332;2153144;7185614 AK2__4273;AL009694;D1S2291;D1S241;D1S2676;PMC196577P1;RH70625;RH80838;SHGC-74553;SHGC-83025;STS-AA029315 ADK2;AK 2 ATP-AMP transphosphorylase 2;ATP:AMP phosphotransferase;OTTHUMP00000004287;OTTHUMP00000004288;OTTHUMP00000241076;OTTHUMP00000241096;OTTHUMP00000241097;adenylate kinase 2, mitochondrial;adenylate kinase isoenzyme 2, mitochondrial;adenylate monophosphate kinase APPROVED protein-coding ENSG00000004455 HGNC:362 00047 103020;267500 REVIEWED 736701 AK1 adenylate kinase 1 Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme. [provided by RefSeq, Jul 2008] 9 9 9 q34.1 101279601 101290850 - 130628759 130640022 - 127866480 127877743 - 1300279;1580863;1601154;1300280;1300048;5134362;5508760;5490520;5147990;6480464;6907045;7240710;8554872;8699517 10233365;11101510;15855311;16167529;16468349;17611631;20127051 10557075;12124227;12432079;12477932;12649162;15489334;15967462;16344560;16714292;17353931;18029348;183954;18404568;18850517;19056867;19165527;20152999;21044950;211388;21139048;21457004;21831515;21832049;21890473;22287021;22419736;22637533;22939629;23000965;23146316;23863634;2541064;2542324;3024483;6305188;7947281;8125298;9504408 203 F8VRY5;H0Y4J6;H0YID2;P00568;Q5T9B7;Q6FGX9 AB021871;ABBA01043850;AK223501;AK313758;AL157935;AMYH02021699;BC001116;BC036803;BC100022;BT019580;CH471090;CR541977;CR542004;DA077967;EU794628;J04809;NG_011792;NM_000476;XM_005251786;XM_005251788 AAA51686;AAH01116;AAI00023;AAV38387;ABM83502;ABM86718;ACJ13682;BAA78534;BAD97221;BAG36497;CAG46775;CAG46801;EAW87706;EAW87707;EAW87708;EAW87709;NP_000467;P00568;XP_005251843;XP_005251845 Hs.175473 1695010;1759959;1777120;5015861;5022590;7185938 D10S16;D8S1362E;G44718;SHGC-31174;SHGC-31625 AK 1;HTL-S-58j ATP-AMP transphosphorylase 1;ATP:AMP phosphotransferase;OTTHUMP00000022217;OTTHUMP00000022218;OTTHUMP00000022219;OTTHUMP00000022220;OTTHUMP00000216413;adenylate kinase isoenzyme 1;adenylate monophosphate kinase;myokinase;testis secretory sperm binding protein Li 58j APPROVED protein-coding ENSG00000106992 HGNC:361 00046 103000;612631 REVIEWED 1626554 AK2P2 adenylate kinase 2 pseudogene 2 2 2 2 p23.1 31893336 31893756 - 32048479 32048899 - 31823410 31823830 - 339736 ABBA01074858;AL121652;AMYH02003532;NG_009660 1793106;2151332 PMC196577P1;SHGC-74553 pseudo HGNC:33542 INFERRED 1626587 AK2P1 adenylate kinase 2 pseudogene 1 1 1 1 p32.1 57380035 57380761 - 59096518 59097244 - 58630846 58631572 - 10092943 266920 ABBA01074659;AF056332;AL035411;AMYH02001097;NG_002393 1682503;1793106 PMC196577P1;RH80838 AK2B pseudo HGNC:24037 INFERRED 737588 AK3 adenylate kinase 3 The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 9 9 9 p24.1 4633666 4666796 - 4709556 4742043 - 4709556 4742043 - 1580863;1300048;5490520;6480464;6907045 16167529 10544043;11485571;12477932;14702039;15164053;15489334;16344560;182062;19322201;19820697;20139978;20877624;218813;21988832;22139419;22412388;22939629;24250222;24816145 50808 Q7Z4Y4;Q9UIJ7 AB021870;ABBA01065419;ABBA01065420;AF086913;AF100785;AF183419;AK001553;AK001951;AK027534;AK098205;AK124824;AK298200;AL136231;AL353151;AMYH02019077;AMYH02019078;BC013771;BI550730;BI601245;BX640794;CH471071;DA570364;DA718987;NG_028041;NM_001199852;NM_001199853;NM_001199855;NM_001199856;NM_016282 AAG09688;AAH13771;AAP97143;AAP97224;ABM82586;ABM85773;BAA87913;BAA91753;BAA91996;BAB55183;BAG53592;BAG54101;BAG60470;EAW58779;EAW58780;EAW58781;NP_001186781;NP_001186782;NP_001186784;NP_001186785;NP_057366;Q9UIJ7 Hs.732022 1644467;1675951;1678385;1679367;1695334;1735856;1744323;2152245;5014051;5015619;5021872;5022578;5022651;5037552;5093352 A009M22;D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;D9S987E;G32668;GDB:451685;RH69311;RH69564;RH93015;SHGC-64759;STS-H37837;sY3084 AK 3;AK3L1;AK6;AKL3L;AKL3L1;FIX GTP:AMP phosphotransferase AK3, mitochondrial;GTP:AMP phosphotransferase mitochondrial;GTP:AMP phosphotransferase, mitochondrial;OTTHUMP00000021015;OTTHUMP00000021016;adenylate kinase 3 alpha like;adenylate kinase 3 alpha-like 1;adenylate kinase 3 like 1;adenylate kinase 6, adenylate kinase 3 like 1 APPROVED protein-coding ENSG00000147853 HGNC:17376 12439 609290 REVIEWED 5490944 AK3P3 adenylate kinase 3 pseudogene 3 7 7 7 23155076 23155736 + 23168797 23169457 + 23129178 23129838 + 100419075 ABBA01056700;AC006039;AMYH02015356;CH236948;NG_026542 pseudo HGNC:39062 INFERRED 5684152 AK3P2 adenylate kinase 3 pseudogene 2 8 8 8 q24.3 140448731 140449484 - 144138480 144139233 - 143057063 143057816 - 100419074 ABBA01005274;AC083982;AC236721;AMYH02018932;NG_026075 1744323 GDB:451685 HsT26053 pseudo HGNC:31099 INFERRED 4144672 AK3P5 adenylate kinase 3 pseudogene 5 10 10 10 p11.22 32998683 32999267 + 33233345 33233929 + 32944417 32945001 + 100288319 ABBA01033378;AL365203;AMYH02022586;NG_022166;NG_029012 pseudo HGNC:39064 INFERRED 4144669 AK3P4 adenylate kinase 3 pseudogene 4 5 5 5 q22.3 110686059 110686782 + 114738037 114738661 + 115402340 115402964 + 100129959 ABBA01069033;AC091981;AMYH02012002;NG_028719 pseudo HGNC:39063 INFERRED 6481552 AK3P6 adenylate kinase 3 pseudogene 6 12 12 129426644 129429838 - 128942099 128945293 - 100873789 ABBA01019774;AC069262;AMYH02027531;NG_032224 pseudo HGNC:39065 INFERRED 1606591 AK4 adenylate kinase 4 This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008] 1 1 1 p31.3 63903944 63988555 + 65613232 65697828 + 65147549 65232145 + 5134352;2301096;5490520;6480464;6907045 16167529;16538043;21152904 10544043;11485571;12477932;15489334;16341674;16344560;1639383;182062;19073142;19322201;19766732;20379614;21832049;21900206;21988832;23002211;23474458;23509962;24654937;24816145;7140357;9504419;9813319 205 D3DQ64;P27144 ABBA01074546;ABBA01074547;ABBA01074548;ABBA01074549;AC099680;AK025926;AK026966;AK309057;AK313611;AL356212;AMYH02001176;AMYH02001177;BC016180;BC040224;BC066944;BC136886;BC136887;BC146653;BC148270;BF205061;BG703687;BM763432;BU164554;CH471059;CR456830;DB061266;DR003868;NM_001005353;NM_013410;NM_203464;X60673 AAH16180;AAH40224;AAH66944;AAI36887;AAI36888;AAI46654;AAI48271;ABM83220;ABM86420;BAG36374;CAA43088;CAG33111;EAX06538;EAX06540;EAX06544;NP_001005353;NP_037542;NP_982289;P27144 Hs.10862 1654272;1756401;1771299;1857111;2123561;2146320;2178374;5024717;5093588;5123052 A009S21;AL009904;G16073;G32808;RH70853;SGC34423;SHGC-143375;SHGC-74947;WI-11122;WI-7525 AK 4;AK3;AK3L1;AK3L2;MGC166959 ATP-AMP transphosphorylase;GTP:AMP phosphotransferase;GTP:AMP phosphotransferase AK4;GTP:AMP phosphotransferase AK4, mitochondrial;OTTHUMP00000010594;OTTHUMP00000241178;adenylate kinase 3-like 1;adenylate kinase 4, mitochondrial;adenylate kinase isoenzyme 4;adenylate kinase isoenzyme 4, mitochondrial;mitochondrial adenylate kinase-3;nucleoside-triphosphate-adenylate kinase APPROVED protein-coding ENSG00000162433 HGNC:363 00048 103030 REVIEWED 4144712 AK4P2 adenylate kinase 4 pseudogene 2 5 5 5 q11.2 51801829 51802495 - 54847716 54848382 - 55551888 55552554 - 100132104 ABBA01015743;AC008784;AC025777;AMYH02011314;NG_021849 pseudo HGNC:39066 INFERRED 1349421 AK4P1 adenylate kinase 4 pseudogene 1 12 17 17 q11.2 11589655 11591783 - 29672332 29674519 + 31345314 31347501 + 1639383 206 ABBA01014962;AC134669;AMYH02033295;NG_001070;X60674 AK3P1 APPROVED pseudo HGNC:364 INFERRED 4144715 AK4P4 adenylate kinase 4 pseudogene 4 9 9 9 p24.1 5793276 5793916 - 5855786 5856426 - 5855786 5856426 - 100128705 ABBA01065409;AL365360;AMYH02019089;NG_021605 2155895 1422 pseudo HGNC:39067 INFERRED 4145468 AK4P5 adenylate kinase 4 pseudogene 5 6 6 80787446 80788079 - 80077729 80078362 - 100526416 ABBA01040421;AL591135;AMYH02013981;NG_027847 KIAA1424 pseudo HGNC:39068 INFERRED 1605795 AK4P3 adenylate kinase 4 pseudogene 3 12 12 12 p11.21 11589655 11591785 - 31767377 31769508 - 31614443 31616574 - 645619 AC022080;AMYH02026280;CH471116;NG_007564 EAW88550 AK3;AK3L2;AK3L2P APPROVED pseudo HGNC:21596 INFERRED 4144674 AK4P6 adenylate kinase 4 pseudogene 6 4 4 4 q31.3 149267857 149268384 + 151948242 151948769 + 151027090 151027617 + 649288 ABBA01070096;AC079794;AMYH02010302;NG_022085 pseudo HGNC:39069 INFERRED 1353587 AK5 adenylate kinase 5 This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p31 75987128 76265178 + 77747662 78025654 + 77281977 77559969 + 1580863;5490520;6480464;6907045;8554872 16167529 10215863;12477932;14702039;15489334;16169070;18029348;18239623;19647735;20379614;23898208 26289 E9PIS7;E9PQQ8;H0YEZ1;Q9Y6K8 ABBA01074399;ABBA01074400;ABBA01074401;AC093433;AC093575;AC095030;AF062595;AF445193;AK090967;AMYH02001297;AMYH02001298;AMYH02001299;AMYH02001300;AMYH02001301;AMYH02001302;AW665223;AY171600;BC012467;BC033896;BC036666;CH471059;CR541890;DN993295;KF459522;NM_012093;NM_174858;XM_005270739;XM_006710572 AAD27956;AAH12467;AAH33896;AAH36666;AAO16520;AAP97322;BAC03558;CAG46688;EAX06377;EAX06378;EAX06379;NP_036225;NP_777283;Q9Y6K8;XP_005270796;XP_006710635 Hs.559718;Hs.597002 1341164;1658653;1662512;1700366;1723049;2109029;2132693;2148821;2151637;2164971;2175027;2178791;2186202;7186668 A004B41;AFMA114ZD9;AK5_9482;AL009966;D1S1862E;D1S2157;D1S2456;D1S499;G60475;RH103803;SHGC-30349;SHGC-53458;SHGC-75022 AK 5;AK6;MGC33326 ATP-AMP transphosphorylase 5;OTTHUMP00000011354;OTTHUMP00000011355;adenylate kinase 6;adenylate kinase isoenzyme 5 APPROVED protein-coding ENSG00000154027 HGNC:365 10472 608009 REVIEWED 7382322 AK6 adenylate kinase 6 This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 5 q13.2 69351726 69370013 - 6480464 10810093;10931946;12477932;15213396;15372022;15489334;15630091;16079131;1939271;19946888;20186459;20974138;21269460;22038794;23246961;2449431 102157402 Q9Y3D8 ABBA01048275;AC145132;AC145145;AF110777;AF151895;AJ878880;AJ878881;AMYH02011474;BC007349;BC007426;BX117839;NM_001015891;NM_016283 AAD34132;AAF14860;AAH07349;AAH07426;CAI48030;CAI48031;NP_001015891;NP_057367;Q9Y3D8 Hs.653163 AD-004;CGI-137;CIP AK/ATPase;AK/ATPase {ECO:0000255|HAMAP-Rule:MF_03173};AK6 {ECO:0000255|HAMAP-Rule:MF_03173};ATP-AMP transphosphorylase 6;CINAP;adenylate kinase isoenzyme 6;adenylate kinase isoenzyme 6 {ECO:0000255|HAMAP-Rule:MF_03173};adrenal gland protein AD-004;coilin interacting nuclear ATPase protein;coilin interacting protein;coilin-interacting nuclear ATPase protein;coilin-interacting nuclear ATPase protein {ECO:0000255|HAMAP-Rule:MF_03173};dual activity adenylate kinase/ATPase;dual activity adenylate kinase/ATPase {ECO:0000255|HAMAP-Rule:MF_03173};hCINAP protein-coding ENSG00000085231 HGNC:49151 VALIDATED 1320025 AK7 adenylate kinase 7 ENCODES a protein that exhibits adenylate kinase activity; cytidylate kinase activity; nucleoside diphosphate kinase activity; INVOLVED IN nucleoside diphosphate phosphorylation; nucleoside triphosphate biosynthetic process; PARTICIPATES IN purine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH benzo[a]pyrene; trichostatin A; valproic acid 14 14 14 q32.2 76914175 77010845 + 96858448 96955764 + 96392111 96489427 + 1580863;6480464;6907045;8554872 12477932;12508121;14702039;15489334;20379614;20537283;21080915;21139048;22801010;8889548 122481 G3V365;H0YIY5;Q96M32 ABBA01048590;ABBA01048591;ABBA01048592;ABBA01048593;ABBA01048594;ABBA01048595;AK057426;AL163051;AL359240;AMYH02029803;AMYH02029804;AMYH02029805;AMYH02029806;BC023986;BC035256;BM981526;CH471061;NM_152327;XM_006720021;XM_006720022;XM_006720023 ABM82637;ABM85814;BAB71480;EAW81636;EAW81637;EAW81638;EAW81639;EAW81640;NP_689540;Q96M32;XP_006720084;XP_006720085;XP_006720086 Hs.667462 1335033;1744331;2125307;2151981;2154800 D10S1151;G35398;G35577;G35998;GDB:451706 AK 7;FLJ32864 ATP-AMP transphosphorylase 7;OTTHUMP00000246000;putative adenylate kinase 7 protein-coding ENSG00000140057 HGNC:20091 10640 615364 VALIDATED 1350831 AK8 adenylate kinase 8 ENCODES a protein that exhibits adenylate kinase activity; cytidylate kinase activity; nucleoside diphosphate kinase activity; INVOLVED IN nucleoside diphosphate phosphorylation; nucleoside triphosphate biosynthetic process; FOUND IN cytoplasm (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); cadmium dichloride (ortholog); chloroprene (ortholog) 9 9 9 q34.13 106142640 106295933 - 135600958 135754198 - 132725571 132878811 - 737633;6480464 12477932 14702039;17207965;18839057;19240061;20379614;21080915;23251661;23377640;23455924 158067 Q8N9Z7;Q96MA6 ABBA01032479;ABBA01032480;ABBA01032481;AK057266;AK093333;AK093446;AK292186;AL160165;AL445645;AMYH02021813;AMYH02021814;AMYH02021815;AMYH02021816;AMYH02021817;BC034776;BC037402;BC050576;CH471090;NM_152572;XM_005272169;XM_006716964;XM_006716965 AAH34776;AAH50576;ADQ31793;BAB71402;BAC04134;BAC04168;BAF84875;EAW88012;EAW88013;EAW88014;EAW88015;EAW88016;EAW88017;NP_689785;Q96MA6;XP_005272226;XP_006717027;XP_006717028 Hs.421340 1336184;1650490;1713503;1752873;1759605;2112010;2126554;2130472;5127953 D9S1830;D9S2126;RH120235;SGC31362;SHGC-106791;SHGC-151232;SHGC-152457;SHGC-34984;STS-H71035 AK 8;C9orf98;DDX31;FLJ32704;FLJ36014;RP11-143F18.1 ATP-AMP transphosphorylase 8;OTTHUMP00000022737;putative adenylate kinase-like protein C9orf98 APPROVED protein-coding ENSG00000165695 HGNC:26526 12991 615365 VALIDATED 1354002 AK9 adenylate kinase 9 ENCODES a protein that exhibits nucleoside diphosphate kinase activity; nucleoside phosphate kinase activity; INVOLVED IN ADP phosphorylation; AMP phosphorylation; CDP phosphorylation; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; nuclear membrane; nucleus; INTERACTS WITH atrazine; cyclosporin A; ethyl methanesulfonate 6 6 6 q21 110560655 110759036 - 109814059 110012415 - 109492856 109691212 - 6480464;8554872 11181995;12477932;14574404;14702039;15489334;16169070;16344560;19684573;20379614;20602751;21145461;21963094;23416111;24250222 221264 Q5TCS8 ABBA01026124;ABBA01026125;AK055538;AK098657;AK124171;AK131244;AK315561;AL109947;AL121788;AL133472;AL139391;AL832162;AMYH02014281;AMYH02014282;AMYH02014283;BC022031;BC087860;BC101714;BC111948;BC143533;CH471051;DA106296;DW009925;NM_001145128;NM_145025;XM_006715376 AAH22031;AAH87860;AAI01715;AAI11949;AAI43534;AAI46444;AAI53056;ACE86533;ACE87212;BAB70945;BAC05368;BAD18424;BAG37937;EAW48333;EAW48334;EAW48335;EAW48336;NP_001138600;NP_659462;Q5TCS8;XP_006715439 Hs.205144 AK 9;AKD1;AKD2;C6orf199;C6orf224;FLJ34784;FLJ42177;MGC26954;RP1-70A9.1;dJ70A9.1 adenylate kinase domain containing 1;adenylate kinase domain containing 2 APPROVED protein-coding ENSG00000155085 HGNC:33814 12871 615358 PROVISIONAL 1343676 AKAP1 A kinase (PRKA) anchor protein 1 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008] 17 17 17 q22 51624091 51660266 + 55162553 55198710 + 57085092 57121349 + 1580863;2312475;2312477;2313128;6480464;6484113;8554872 14715913;18323779;19319965 10352013;10413680;10764601;10995432;11483602;11546661;11807172;12223483;12414807;12477932;12634056;12697839;14759258;15143158;15302935;15489334;16344560;17884635;18029348;18625701;18786546;19074462;19615732;19750561;19946888;20308539;20677014;20877624;21139048;21832049;21890473;21994574;22807343;23000965;23045525;23077346;23455922;23557075;24583282;7499250;8769136;8889548;9065479;9238861 8165 B4DN86;I3L0K6;I3L0V5;I3L0W0;I3L2A2;I3L2N7;I3L364;I3L3K1;I3L3L9;I3L3V6;I3NI36;Q92667 ABBA01041310;AC007114;AF015910;AK292416;AK297810;AK308397;AMYH02033668;BC000729;BM711930;CB048239;CD172211;CH471109;DA092401;DA455114;NG_029985;NM_001242902;NM_001242903;NM_003488;U34074;X97335;XM_005257707;XM_005257709;XM_006722126;XM_006722127;XR_243684 AAB64298;AAC50279;AAH00729;ABM84528;ABW03447;BAF85105;BAG60148;CAA66000;EAW94515;EAW94516;EAW94517;EAW94518;NP_001229831;NP_001229832;NP_003479;Q92667;XP_005257764;XP_005257766;XP_006722189;XP_006722190 Hs.463506 1712138;1767072;1783634;1847410;2149689;2160780;2218208;5114061 AKAP1__4276;D17S1372E;D17S1559;G54119;RH69729;RH91665;SHGC-172273;WI-20688 AKAP;AKAP121;AKAP149;AKAP84;D-AKAP1;MGC1807;PPP1R43;PRKA1;SAKAP84;TDRD17 A-kinase anchor protein 1, mitochondrial;A-kinase anchor protein 149 kDa;A-kinase anchor protein, 149kD;AKAP 149;D-AKAP-1;OTTHUMP00000179121;dual specificity A-kinase-anchoring protein 1;dual-specificity A-kinase anchoring protein 1;protein kinase A anchoring protein 1;protein kinase A-anchoring protein 1;protein kinase A1;protein kinase anchoring protein 1;protein phosphatase 1, regulatory subunit 43;spermatid A-kinase anchor protein 84;tudor domain containing 17 APPROVED protein-coding ENSG00000121057 HGNC:367 03905 602449 REVIEWED 70080 AKAP10 A kinase (PRKA) anchor protein 10 This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012] 17 17 17 p11.1 17222124 17295198 - 19807765 19881169 - 19904452 19977856 - 1580863;2312475;2312477;6480464;7240710 14715913;19319965 11248059;11807172;12206784;12477932;12646697;14531806;15342556;15488188;15489334;16956908;17143557;17485678;17786291;18029348;19056482;19209010;19462906;19496216;19578796;19797056;19857670;20159461;20171186;20453000;20877624;21701445;22139419;22817328;22863883;23092224;23095189;23468363;7505766;9238861;9326583 11216 E7EMD6;I3L177;I3L479;I3NI04;J3QL61;J3QR74;J3QRM7;K7EM25;O43572 ABBA01054591;ABBA01054592;AC005730;AC015726;AF037439;AK295180;AK308297;AK312438;AMYH02033175;AMYH02033176;AMYH02033177;BC017055;BP229845;CH471212;DQ270159;NG_011493;NM_007202;U00957;XM_006721431;XM_006721432;XM_006721433;XR_243536 AAB92260;AAH17055;ABB76684;ABM82403;ABM85592;BAG35347;BAH12002;EAW50913;NP_009133;O43572;XP_006721494;XP_006721495;XP_006721496 Hs.642676 1734496;2109031;2160800;2181561;2185091 AKAP10_9241;D17S1447E;RH65769;SHGC-53199;WI-19974 AKAP-10;D-AKAP-2;D-AKAP2;MGC9414;PRKA10 A-kinase anchor protein 10, mitochondrial;OTTHUMP00000065850;a kinase anchor protein 10;dual specificity A kinase-anchoring protein 2;dual-specificity A-kinase anchoring protein 2;mitochondrial A kinase PPKA anchor protein 10;protein kinase A anchoring protein 10;protein kinase A-anchoring protein 10 APPROVED protein-coding ENSG00000108599 HGNC:368 05259 115080;604694 REVIEWED 6481064 AKAP11-IT1 AKPA11 intronic transcript 1 (non-protein coding) 100874349 AL136527 miscrna HGNC:39939 736276 AKAP11 A kinase (PRKA) anchor protein 11 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008] 13 13 13 q14.11 23903720 23954839 + 42846261 42897403 + 42272125 42323267 + 632175;1580863;2312475;2312477;2312637;6480464;8554872 14715913;18385542;19319965;8621616 10209101;10737800;10864471;11152471;11807172;11823486;12147701;12168954;12672969;14702039;15057823;16344560;17353931;18029348;19801982;21139048;21145461;21890473;21890631;22504420;23402259;23455922;23602568;23667531;24249740;9238861;9734811 11215 Q6AI61;Q9UKA4 AB014529;ABBA01021255;AF176555;AK002166;AK074384;AL136527;AMYH02027930;BE670178;BE694434;CH471075;CR627087;DA780016;NM_016248;XM_005266247;XM_005266248;XM_005266249;XM_005266250 AAF07045;AAI56136;AAI72498;BAA31604;BAA92117;CAH10362;EAX08676;EAX08677;NP_057332;Q9UKA4;XP_005266304;XP_005266305;XP_005266306;XP_005266307 Hs.105105 1655997;1681530;2115400;5024039;5037552;5109281 D16S325;D1S1425;D8S2279;RH92944;STS-H70800;STS-Z40816 AKAP-11;AKAP220;DKFZp781I12161;FLJ11304;KIAA0629;PPP1R44;PRKA11;hAKAP220 A-kinase anchor protein 11;A-kinase anchor protein 220 kDa;A-kinase anchoring protein, 220kDa;OTTHUMP00000018327;a kinase anchor protein 220 kDa;protein kinase A anchoring protein 11;protein kinase A-anchoring protein 11;protein phosphatase 1, regulatory subunit 44 APPROVED protein-coding ENSG00000023516 HGNC:369 05261 604696 REVIEWED 736118 AKAP13 A kinase (PRKA) anchor protein 13 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] 15 15 15 q24-q25 62323846 62692414 + 85923818 86292589 + 85380587 85749358 + 2312475;2312477;6480464;8554872 14715913;19319965 11278452;11285229;11546812;11579095;11696353;11756498;12270917;12376548;12423633;12477932;12663445;12672969;12787561;12972258;14636890;14660653;14702039;15229649;15249197;15324660;15383279;15489334;15691829;1618839;16234258;16301118;16412732;16469733;16956908;16964243;17081983;17353931;17878165;18029348;18093280;18445682;18519826;1860836;18854154;19696020;19779964;19888694;19911011;19946888;19960345;20353833;20379614;20696764;20719862;20936779;21102438;21139048;21224381;21228793;21890473;22161024;22731613;23045525;23090968;23291589;23535375;23583980;7929081;8290273;9627117;9891067 11214 A8MYJ1;B0AZU4;H0YK18;H0YK84;H0YLH1;H0YMI5;H0YMW2;Q12802 AB055890;AB209414;ABBA01052961;ABBA01052962;ABBA01052963;ABBA01052964;ABBA01052965;ABBA01052966;ABBA01052967;ABBA01052968;AC021739;AC087286;AC104046;AC110592;AF086293;AF126008;AF387101;AF406992;AK022014;AK026186;AK091210;AK125331;AK307618;AK309805;AK315885;AL133426;AL133427;AL133429;AL133430;AL135297;AMYH02030965;AMYH02030966;AMYH02030967;AMYH02030968;AMYH02030969;AMYH02030970;BC000269;BC009213;BC017368;BC019662;BC040109;BC050312;BC063592;BC089394;BC140862;BC171798;CA306665;CH471101;KC832804;KC877559;KC877571;M90360;NM_001270546;NM_006738;NM_007200;XM_005254839;XM_005254840;XM_005254841;XM_005254842;XM_005254843;XM_005254844;XM_005254845;XM_005254846;XM_005254847;XM_005254848;XM_005254849;XM_005254850;XM_005254851;XM_005254852;XM_005254853;XM_005254854;XM_005254855;XM_005254856;XM_006720376;XM_006720377;XM_006720378 AAA58670;AAD21311;AAH50312;AAI40863;AAI71798;AAI72356;AAL11723;AAL40923;BAB62913;BAD92651;BAF98776;EAX01973;EAX01974;EAX01975;EAX01976;NP_001257475;NP_006729;NP_009131;Q12802;XP_005254896;XP_005254897;XP_005254898;XP_005254899;XP_005254900;XP_005254901;XP_005254902;XP_005254903;XP_005254904;XP_005254905;XP_005254906;XP_005254907;XP_005254908;XP_005254909;XP_005254910;XP_005254911;XP_005254912;XP_005254913;XP_006720439;XP_006720440;XP_006720441 Hs.459211;Hs.710656 1334766;1654266;1663226;1682109;1682944;1693484;1715643;1718225;1728485;1756327;1757675;1761215;1767784;1783200;1783202;1848591;2118503;2142752;2162269;2168769;2172333;2172335;2218206;5020274;5023733;5109281 168XA11;A006F31;AKAP13__4278;AU048745;D15S932;D15S999;D1S1425;G20767;G63680;L18441;RH119267;RH122882;RH47095;RH70067;RH92626;RH92649;SHGC-143312;SHGC-145225;SHGC-146217;SHGC-148480;SHGC-149380;SHGC-53698;SHGC-58194;SHGC-58426;STS-H98167;WI-16595 AKAP-13;AKAP-Lbc;ARHGEF13;BRX;FLJ11952;FLJ43341;HA-3;Ht31;LBC;PRKA13;PROTO-LB;PROTO-LBC;c-lbc;p47 A-kinase anchor protein 13;A-kinase anchoring protein;LBC oncogene;breast cancer nuclear receptor-binding auxiliary protein;guanine nucleotide exchange factor Lbc;human thyroid-anchoring protein 31;lymphoid blast crisis oncogene;non-oncogenic Rho GTPase-specific GTP exchange factor;protein kinase A-anchoring protein 13 APPROVED protein-coding ENSG00000170776 HGNC:371 05253 604686 REVIEWED 737243 AKAP12 A kinase (PRKA) anchor protein 12 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 6 q24-q25 152295018 152413580 + 151561134 151679694 + 151239999 151358559 + 1580863;2312475;2312477;6480464 14715913;19319965 10858453;11309381;11316952;11766078;11807172;12477932;12857743;14657015;1522245;15258566;15345747;15590635;15923193;16344560;16642035;16751776;16762919;17081159;17081983;17200117;17442483;17442832;17577780;18029348;18199717;18397319;18554502;18579430;18950703;19210988;19724895;19851296;20018890;20029029;20198315;20360068;20364105;20939879;20979053;21115911;21139048;21310466;21461577;21540461;21890473;21900206;21903576;21906983;21918680;22584896;22710722;22863883;23000965;23063527;23254330;23443559;23543478;23838009;24042196;24065476;9000000;9238861;9604001;9880537 9590 Q02952;Q86TJ9 AB003476;AB210003;ABBA01025642;ABBA01025643;ABBA01025644;ABBA01025645;ABBA01025646;ABBA01025647;ABBA01025648;ABBA01025649;ABBA01025650;AF001504;AF086250;AK024598;AK307578;AK307673;AK307739;AL033392;AL356535;AL590413;AMYH02014723;BC000188;BC015830;BC022814;BC033829;BC046095;BC047728;BC070151;BC117679;BC117680;CH471051;CN480611;CR749527;CR936604;DA055364;DQ584338;M96322;NG_029875;NM_005100;NM_144497;U81607;XM_005267233;XM_005267234;XM_005267235 AAA35931;AAB58938;AAC51366;AAH47728;AAH70151;AAI56287;AAI57068;BAA19927;BAE06085;CAH18338;CAI56750;EAW47753;EAW47754;EAW47755;NP_005091;NP_653080;Q02952;XP_005267290;XP_005267291;XP_005267292 Hs.371240 1669737;1684158;1713089;1730321;1777106;1778913;1779021;1847786;2106415;2119889;2120062;2131846;2180842 AKAP12__4277;D6S1869;D6S320E;D6S476;RH120332;RH1532;RH48460;RH94092;SHGC-30338;SHGC-31130;SHGC-33357;SHGC-34852;STS-M96322 AKAP250;DKFZp686M0430;DKFZp686O0331;FLJ20945;FLJ97621;SSeCKS A-kinase anchor protein 12;A-kinase anchor protein 250 kDa;A-kinase anchor protein, 250kDa;AKAP 250;AKAP-12;OTTHUMP00000017426;OTTHUMP00000017427;Src-Suppressed C Kinase Substrate;kinase scaffold protein gravin;myasthenia gravis autoantigen gravin APPROVED protein-coding ENSG00000131016 HGNC:370 05263 604698 REVIEWED 1353822 AKAP14 A kinase (PRKA) anchor protein 14 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] X X X q24 119484561 119509308 + 119029936 119054679 + 119895973 119920716 + 2312475;2312477;6480464 14715913;19319965 11329013;12475942;12477932;15489334 158798 Q86UN6 ABBA01036613;ABBA01036614;ABBA01110425;ABBA01179529;AC002477;AF514780;AF514781;AF514782;AMYH02040347;AMYH02040348;BC066357;BG208671;CH471161;NG_013218;NM_001008534;NM_001008535;NM_178813 AAH66357;AAP20825;AAP20826;AAP20827;EAW89839;NP_001008534;NP_001008535;NP_848928;Q86UN6 Hs.592245 1773606;1774114;2123204;5114008 RH18491;RH47102;RH92064;WI-17367 AKAP28;PRKA14 A-kinase anchor protein 14;A-kinase anchor protein 28 kDa;A-kinase anchoring protein 28;AKAP 28;AKAP-14;OTTHUMP00000023927;OTTHUMP00000023928;OTTHUMP00000023929;protein kinase A-anchoring protein 14 APPROVED protein-coding ENSG00000186471 HGNC:24061 02353 300462 REVIEWED 4143131 AKAP17BP A kinase (PRKA) anchor protein 17B, pseudogene INTERACTS WITH acetazolamide (ortholog); cerium trichloride (ortholog); dibutyl phthalate (ortholog) X X X q24 118845611 118846351 - 118390881 118391621 - 119256918 119257658 - 6480464 17302988 139516 ABBA01036706;AC004835;AMYH02040326;NG_022632 AKAP16B;AKAP16BP APPROVED pseudo HGNC:38514 INFERRED 1606031 AKAP17A A kinase (PRKA) anchor protein 17A This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Sep 2010] X X;Y X;Y p22.33 and Yp11.32 5988649 5999070 + 1710486 1721413 + 1591593 1602520 + 6480464 12477932;1302606;1438229;14759258;15489334;16189514;16982639;17081983;17353931;19840947;21139048;24250222;24778252;8889548;9736779 8227 Q02040;Q05DA9;X6RAJ1 ABBA01055713;AK308367;AL683807;AMYH02038692;BC015800;BC016935;BC028151;BC110496;BC110497;BM046630;BM713425;CH471074;L03426;M99578;NG_016337;NG_021470;NM_005088;NR_027383 AAA36187;AAA61303;AAA61304;AAH16935;AAH28151;AAI10497;AAI10498;EAW98687;NP_005079;Q02040 Hs.522572 1683403;1748463;1848069;2177147;5017879 CXYorf3;DXYS155E;RH69211;SHGC-5417;SHGC-64829 721P;AKAP-17A;CCDC133;CXYorf3;DXYS155E;FLJ98315;MGC125365;MGC125366;MGC39904;PRKA17A;SFRS17A;XE7;XE7Y A-kinase anchor protein 17A;B-lymphocyte surface antigen;OTTHUMP00000022831;OTTHUMP00000022832;OTTHUMP00000022833;protein kinase A-anchoring protein 17A;pseudoautosomal gene XE7;splicing factor, arginine/serine-rich 17A APPROVED protein-coding ENSG00000197976 HGNC:18783 02419 312095;465000 REVIEWED 1312990 AKAP2 A kinase (PRKA) anchor protein 2 The protein encoded by this gene binds to the regulatory subunit of protein kinase A and is found associated with the actin cytoskeleton. The encoded protein mediates signals carried by cAMP and may be involved in creating polarity in certain signaling processes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 9 9 9 q31.3 83312619 83436417 + 112810878 112934792 + 110048598 110172512 + 2312475;2312477;6480464 14715913;19319965 10231032;11181995;11478809;12477932;12646697;12672969;14702039;15146197;16344560;17081983;17474147;18649358;18978678;19893584;20306291;21906983;22456796;22863883;24281739;24816145;9497389 11217 C9JVY5;F8WF36;Q9Y2D5 ABBA01042752;AJ420463;AK000306;AK022693;AK057098;AK300427;AK304311;AK308388;AL110268;AL158823;AL353598;AMYH02021447;AMYH02021448;BC010513;BC146863;BC171800;BE674805;CH471105;CN302358;CX872067;DA564383;DB212465;DB287164;DC422367;N51499;NG_028265;NM_001004065;NM_001136562;NM_001198656 AAI46864;AAI71800;BAG51862;BAG62154;BAG65164;CAB53707;EAW59049;EAW59050;NP_001004065;NP_001130034;NP_001185585;Q9Y2D5 Hs.591908 1656172;1699026;1700112;1704536;1711454;1727381;1749595;1753827;1755889;1779502;2122605;2185400;5105685 G36153;G47279;G63098;RH103086;RH103669;SHGC-100579;SHGC-111282;SHGC-142729;SHGC-142818;SHGC-153477;SHGC-83065;STS-AA007589;STS-AA040279 AKAP-2;DKFZp564L0716;FLJ53197;FLJ98336;PALM2;PRKA2 A-kinase anchor protein 2;AKAPKL;OTTHUMP00000021891;OTTHUMP00000210714;OTTHUMP00000215854;protein kinase A anchoring protein 2;protein kinase A-anchoring protein 2;protein kinase A2 APPROVED protein-coding ENSG00000241978 HGNC:372 604582 REVIEWED 1348905 AKAP3 A kinase (PRKA) anchor protein 3 This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013] 12 12 12 p13.3 6346705 6376375 - 4723837 4758213 - 4614671 4649047 - 1580863;2312475;2312477;6480464;8554872 14715913;19319965 10319321;10334916;10529264;11278869;11696326;11807172;12477932;12509440;12606363;14618620;15257753;16005946;16344560;17683036;18421703;21240291;22941507;23077236;9238861 10566 F5H2S4;F5H7P4;O75969;V9HWD4 ABBA01048764;AC005832;AF087003;AF093408;AI004486;AK074722;AK292451;AMYH02025927;AMYH02025928;BC047535;CH471116;DB083340;EU794681;NM_001278309;NM_006422;U85715;XM_005253664;XM_005253665;XM_006718951 AAC35854;AAC63371;AAD21218;AAH47535;ACJ13735;BAF85140;BAG51992;EAW88840;NP_001265238;NP_006413;O75969;XP_005253721;XP_005253722;XP_006719014 Hs.98397 1676530;2108689 AKAP3_9143;RH92971 AKAP 110;AKAP-3;AKAP110;CT82;FSP95;HEL159;PRKA3;SOB1 A-kinase anchor protein 110 kDa;A-kinase anchor protein 3;A-kinase anchor protein, 110kDa;Fibrous Sheath Protein of 95 kDa;OTTHUMP00000238368;cancer/testis antigen 82;epididymis luminal protein 159;fibrous sheath protein, 95kDa;fibrousheathin 1;fibrousheathin I;fibrousheathin-1;protein kinase A anchoring protein 3;protein kinase A binding protein AKAP 110;protein kinase A-anchoring protein 3;sperm oocyte-binding protein 1 APPROVED protein-coding ENSG00000111254 HGNC:373 05256 604689 REVIEWED 732830 AKAP4 A kinase (PRKA) anchor protein 4 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X X p11.2 54024511 54034765 - 49955411 49965664 - 50190768 50201013 - 1580863;2312475;2312477;6480464;8554872 14715913;19319965 11476771;11807172;12477932;12509440;12606363;15489334;15772651;17683036;17712481;21520158;23077236;23451156;23478221;23764900;9238861;9514854;9822690;9852104 8852 Q5JQC9 ABBA01063330;ABBA01063331;AC235789;AF072756;AK292463;AMYH02039358;AMYH02039359;BC033007;BC070150;BC126250;BC126252;CH471180;HC006776;HC044697;NG_012552;NM_003886;NM_139289;Y15195 AAC79433;AAI26251;AAI26253;BAF85152;CAA75494;CBH19194;CBH30678;EAW89924;EAW89925;EAW89926;NP_003877;NP_647450;Q5JQC9 Hs.97633 1686470;2107819;5022798 AKAP4;AKAP4_8867;RH92753 AKAP 82;AKAP-4;AKAP82;CT99;FSC1;HI;PRKA4;hAKAP82;p82 75 kda fibrous sheath protein;A-kinase anchor protein 4;A-kinase anchor protein 82 kDa;OTTHUMP00000023288;OTTHUMP00000023289;OTTHUMP00000023290;OTTHUMP00000023291;cancer/testis antigen 99;major sperm fibrous sheath protein;protein kinase A anchoring protein 4;protein kinase A-anchoring protein 4;testis-specific gene HI APPROVED protein-coding ENSG00000147081 HGNC:374 02173 300185 REVIEWED 1345297 AKAP5 A kinase (PRKA) anchor protein 5 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008] 14 14 14 q23.3 44989946 44998950 + 64932217 64941221 + 64465499 64474503 + 1580863;2313287;2312475;2312477;2313290;2313247;6480464;8554872 10460255;11248077;12542670;14715913;19319965 10037748;10537145;10753752;10762347;10939335;11179200;11287423;11557526;11807172;11823486;11886862;12077483;12114507;12177200;12477932;12507994;12595241;12672969;12938160;1512224;15671033;1618839;16344560;16940053;16973443;17081159;1733921;17548344;18305116;18311135;1860836;18950703;20410303;20883492;21139048;21156788;21221125;21464287;21771783;22343722;22623657;22677788;22693956;23264624;23383244;23455922;23462372;23616546;23699529;23889134;24121510;7528941;8509414;9202019;9238861;9765270 9495 P24588;Q6PG46 ABBA01018362;AK315336;AL122035;AMYH02029357;BC057229;BC131516;CH471061;DA942424;M90359;NG_033983;NM_004857 AAA58363;AAH57229;AAI31517;BAG37736;EAW80862;NP_004848;P24588 Hs.656683 1669365;1776335;2136104;2218210;5014051;5015961;5016596;5022200;5037552;5116670 AKAP5__4279;D15S1477;D8S2278;D8S2279;G35386;GDB:631802;L18426;RH17748;SHGC-24381;sY3122 AKAP 79;AKAP-5;AKAP75;AKAP79;H21 A-kinase anchor protein 5;A-kinase anchor protein 79 kDa;A-kinase anchor protein, 79kDa;A-kinase anchoring protein 75/79;OTTHUMP00000174435;cAMP-dependent protein kinase regulatory subunit II high affinity binding protein;cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein APPROVED protein-coding ENSG00000179841 HGNC:375 05255 604688 REVIEWED 1350760 AKAP7 A kinase (PRKA) anchor protein 7 This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011] 6 6 6 q23 132213109 132351308 + 131456826 131604675 + 131135686 131283535 + 1580863;2312475;2312477;2312630;1303982;2312656;6480464 14715913;15037626;17901878;18431594;19319965 10613906;11299204;12477932;12672969;12804576;14574404;15489334;16344560;17244820;17643375;18082768;19615732;20379614;22670899;23455922;23502783;24302730;9545239 9465 F5GXD1;F5H4P9;H0YH01;J3KN37;O43687;Q2TAJ5;Q6P4D3;Q9P0M2 AB451273;AB451400;ABBA01025896;AF152929;AF161075;AK290271;AK300587;AK311820;AL136110;AL137063;AL137222;AMYH02014489;AMYH02014490;AW236482;BC016927;BC063499;BC073847;BC094732;BC110897;BC118601;BC118606;BC128398;BC128399;BC141926;BC141927;CH471051;DA144596;DN998807;NG_029123;NM_004842;NM_016377;NM_138633;XM_005267228;XM_005267229;XM_006715614;XR_427979 AAF26676;AAF28106;AAH16927;AAH63499;AAH73847;AAH94732;AAI10898;AAI18602;AAI18607;AAI28399;AAI28400;AAI41927;AAI41928;AAI52941;AAI56907;BAF82960;BAG34762;BAG62285;BAG70087;BAG70214;EAW48057;EAW48058;EAW48059;EAW48060;NP_004833;NP_057461;NP_619539;O43687;Q9P0M2;XP_005267285;XP_005267286;XP_006715677 Hs.486483;Hs.732515 1338849;1658069;1681324;1763529;1852545;1856918;2156479;2166896;2191487;5019623 A005L17;D11S2302E;D6S1214E;D6S435;G32235;MARC_23907-23908:1042828544:1;RH26812;RH78380;SHGC-147229;SHGC-1826 AKAP15;AKAP18 A-kinase anchor protein 18 kDa;A-kinase anchor protein 7 isoform alpha;A-kinase anchor protein 7 isoform gamma;A-kinase anchor protein 7 isoforms alpha and beta;A-kinase anchor protein 7, isoform alpha;A-kinase anchor protein 9 kDa;A-kinase anchor protein, 18-kD;A-kinase anchoring protein 18;AKAP 18;AKAP-7 isoform gamma;AKAP-7 isoforms alpha and beta;OTTHUMP00000017200;OTTHUMP00000017201;OTTHUMP00000017202;OTTHUMP00000239966;PRKA7 isoform gamma;PRKA7 isoforms alpha/beta;protein kinase A anchoring protein 7;protein kinase A-anchoring protein 7 isoform gamma;protein kinase A-anchoring protein 7 isoforms alpha/beta APPROVED protein-coding ENSG00000118507 HGNC:377 16065 604693 REVIEWED 69458 AKAP6 A kinase (PRKA) anchor protein 6 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008] 14 14 14 q12 12665076 13167767 + 32798479 33302268 + 32329273 32833062 + 1580863;2312475;2312477;68716;6480464;8554872 11296225;14715913;19319965 10413680;10830164;11299204;11352932;11590243;11807172;12168954;12477932;12672969;12754202;14702039;15342556;15840729;16177794;17043677;17110338;17474147;17923693;19109240;20106966;20677014;21079607;21150319;22484155;22566634;22581228;23806656;7721854;9205841;9238861;9679148 9472 B2RP22;G3V3B5;G3V3H2;G3V3H6;G3V3H7;G3V569;H0YJT7;Q13023 AB002309;ABBA01061432;ABBA01061433;ABBA01061434;ABBA01061435;ABBA01061436;AK094160;AL049781;AL117672;AL132988;AL136298;AMYH02028962;AMYH02028963;AMYH02028964;AMYH02028965;BC137232;BC137233;BC150185;BC150288;BC154413;BP230135;CH471078;KF455853;NM_004274;U17195;XM_005268219 AAA92354;AAI37233;AAI37234;AAI50186;AAI50289;AAI54414;BAA20770;EAW65931;EAW65932;EAW65933;NP_004265;Q13023;XP_005268276 Hs.509083 1341133;1654236;1655120;1663304;1688312;1709950;1719371;1736464;1772328;1772389;1774223;2141563;2160398;2218984 AKAP6__4280;D14S121;D14S1236;D14S717E;G17798;G36054;L18177;RH123413;RH45526;RH69589;RH91259;SHGC-37333;SHGC-82243;WI-14096 ADAP100;ADAP6;AKAP 100;AKAP-6;AKAP100;KIAA0311;MGC165020;PRKA6 A-kinase anchor protein 100 kDa;A-kinase anchor protein 6;OTTHUMP00000178791;OTTHUMP00000244101;OTTHUMP00000244103;mAKAP;protein kinase A anchoring protein 6;protein kinase A-anchoring protein 6 APPROVED protein-coding HGNC:376 05257 604691 REVIEWED 731444 AKAP8 A kinase (PRKA) anchor protein 8 This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011] 19 19 19 p13.1 15359984 15386240 - 15464332 15490638 - 15353521 15379824 - 1580863;2312475;2312477;6480464 14715913;19319965 10601332;10791967;11279182;11807172;11964380;12414807;12477932;12740381;14641107;14743216;15057824;15302935;15470020;16227597;16964243;17081983;17314511;17400507;18029348;19277197;19322201;19946888;20360068;20508642;21145461;21150319;21182205;21252943;22113938;22446626;22944692;22990118;23602568;23752268;23995757;24250222;24332808;24457600;24816145;25027693;9238861;9473338 10270 M0QX51;M0QYL4;O43823 ABBA01051110;AC005785;AC093060;AI581319;AK303640;AK308251;AK309529;AL050160;AMYH02035656;AMYH02035657;BC037270;CA429585;CH471106;DR005936;NM_005858;XM_005259706;XR_244062;Y11997 AAC62838;AAH37270;BAH14004;CAA72722;CAB43301;EAW84474;NP_005849;O43823;XP_005259763 Hs.594496 1699724;2107821;2148325;2186052;5017803 AKAP8;AKAP8_9079;RH103467;RH48708;WI-17314 AKAP 95;AKAP-8;AKAP-95;AKAP95;DKFZp586B1222 A-kinase anchor protein 8;A-kinase anchor protein 95 kDa;A-kinase anchor protein, 95kDa APPROVED protein-coding ENSG00000105127 HGNC:378 05258 604692 REVIEWED 8548077 AKAP8P1 A kinase (PRKA) anchor protein 8 pseudogene 1 9 9 9 p23 10944515 10945864 + 11011749 11013098 + 11011749 11013098 + 646114 ABBA01065338;AL162413;AL354952;AMYH02019160;NG_021607 pseudo HGNC:49758 INFERRED 1347470 AKAP8L A kinase (PRKA) anchor protein 8-like ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nuclear matrix; nucleus; INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; cobalt dichloride 19 19 19 p13.12 15386496 15425477 - 15490859 15529916 - 15380048 15419105 - 1580863;6480464;8554872 10697960;10748171;10761695;11034899;11402034;12107412;12477932;12538639;12950172;14702039;14743216;15302935;15489334;16391387;17314511;17353931;17594903;18313049;18457437;20360068;21139048;21145461;21252943;21890473;21906983;22190034;22990118;23275444;23455922;23752268;24250222;24255178;24457600;24726327;24816145;25027693;25036637;8125298;8889548;9853615 26993 M0QYT7;M0R008;M0R010;M0R1L5;M0R1Y5;Q9ULX6;V9GZ50 AB015332;AB025905;AB451326;AB451469;ABBA01051110;ABBA01051111;ABBA01051112;AC005785;AC006128;AF199414;AJ243467;AK001594;AK094736;AK225046;AK225291;AK295956;AK310990;AL133576;AMYH02035657;BC000713;BF973758;BI458860;BM726437;BQ006924;BQ185989;BU740636;CD244113;CD672169;CH471106;DA315789;DB099586;KF456508;KF456511;NM_001291478;NM_014371;NR_111971;XM_005259854;XR_244065;XR_244066;XR_430135 AAF86048;AAH00713;ABM82779;ABM85969;BAA34791;BAA85003;BAG50946;BAG58736;BAG70140;BAG70283;CAB63723;CAB65092;EAW84475;EAW84476;EAW84477;EAW84478;NP_001278407;NP_055186;Q9ULX6;XP_005259911 Hs.399800 1699724;1700124;1725091 RH103467;RH103675;RH118841 DKFZp434L0650;HA95;HAP95;NAKAP95 A-kinase anchor protein 8-like;AKAP8-like protein;NAKAP;helicase A-binding protein 95 kDa;homologous to AKAP95 protein;neighbor of A kinase anchoring protein 95;neighbor of A-kinase anchoring protein 95;neighbor of A-kinase-anchoring protein 95;neighbor of AKAP95 protein-coding ENSG00000011243 HGNC:29857 10641 609475 VALIDATED 1604680 AKD1 adenylate kinase domain containing 1 ENCODES a protein that exhibits ATP binding (inferred); nucleobase-containing compound kinase activity (inferred); INVOLVED IN nucleobase-containing compound metabolic process (inferred); phosphorylation (inferred); FOUND IN nuclear membrane; nucleolus; nucleus; INTERACTS WITH valproic acid q21 6480464 11181995;12477932 401271 E9PPM3;E9PPU7;H0Y8C5;H0YCD1;H7C505;H7C517;J3KP89 AK131244;AL109947;AL121788;AL139391;BC087860;CH471051;NM_001001706;NM_001146303 AAH87860;AAI46444;AAI53056;BAD18424;EAW48336;NP_001001706;NP_001139775;Q6ZNF1 Hs.205144 1679764;1715447;1718753;2113814 AB069993;RH120887;RH123066;RH94382 FLJ42177 protein-coding HGNC:33814 16957 1315871 AKIP1 A kinase (PRKA) interacting protein 1 This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] 11 11 11 p15.3 9052466 9061391 + 8932701 8941626 + 8911150 8920079 + 6480464 11528127;12477932;12527432;14702039;15342556;15489334;15630084;16998474;17207965;18178962;18624398;19322201;19913121;20562110;20628086;22990118;23319652;24250222;24659101;8889548 56672 B4DGE2;E9PN38;E9PNI1;E9PPN7;H0YCH8;Q9NQ31 ABBA01061203;AC026894;AF493783;AF493784;AF493785;AF493786;AF512007;AJ400877;AK075308;AK294506;AK294549;AMYH02024299;AW340643;BC030996;BM706322;BP355293;CH471064;CQ783908;DB570956;NG_030417;NM_001206646;NM_001206647;NM_001206648;NM_020642;NR_045417;NR_045418;XM_006718264 AAH30996;AAM12862;AAM12863;AAM12864;AAM12865;AAM12866;AAM12867;AAM34785;ADQ32228;BAC11537;BAG57722;BAG57753;CAB92290;CAF86919;EAW68614;EAW68615;EAW68616;NP_001193575;NP_001193576;NP_001193577;NP_065693;Q9NQ31;XP_006718327 Hs.131180 1685131;2116397;5014051;5037552 D8S2278;D8S2279;RH93941;SHGC-76220 BCA3;C11orf17 A-kinase-interacting protein 1;OTTHUMP00000230630;OTTHUMP00000230631;OTTHUMP00000230632;OTTHUMP00000230633;OTTHUMP00000230634;OTTHUMP00000230635;OTTHUMP00000230636;OTTHUMP00000230637;OTTHUMP00000230638;OTTHUMP00000230639;OTTHUMP00000230640;PKA-interacting protein;breast cancer associated gene 3;breast cancer-associated gene 3 protein;koyt binding protein 1;koyt binding protein 2;koyt binding protein 3;proline-rich protein BCA3;protein kinase A-interacting protein 1 APPROVED protein-coding ENSG00000166452 HGNC:1170 12380 609191 REVIEWED 1349720 AKAP9 A kinase (PRKA) anchor protein 9 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008] 7 7 7 q21-q22 86274770 86444535 + 91570181 91739987 + 91940867 92110673 + 631928;1580863;2312475;2312477;6480464;7240710;8554872;8699517 14715913;19319965;9482789 10202149;10358086;10390370;10862698;10945988;11076968;11799244;12015314;12036294;12163479;12221128;12270714;12477932;12672969;12690205;12852856;12853948;14702039;14982933;15047863;15630448;15670215;16198290;16339516;16356588;16462731;16741161;16760425;16980960;17043677;17148452;17352745;18029348;18093912;18239623;18334708;18643869;19073175;19086053;19242490;20106900;20231423;20301308;20379614;20453000;20466722;20952690;21139048;21374596;21606206;21890473;21931171;21988832;22190034;22778270;22908311;23455922;23455924;23602568;24236485;24255178;24452374;24457600;24475373;24816145;7790358;9872452;9915845 10142 H0Y6Q0;H7BYL6;H7BZV6;Q5GIA7;Q6PJH3;Q99996 AB018346;AB019691;ABBA01045811;ABBA01045812;ABBA01045813;ABBA01045814;ABBA01045815;ABBA01045816;ABBA01045817;AC000066;AC000120;AC003086;AC004013;AF026245;AF083037;AF091711;AF247727;AJ010770;AJ131693;AK000270;AK025160;AK026444;AK057546;AK074869;AL117418;AMYH02016257;AMYH02016258;AMYH02016259;AY528715;BC015533;BC027455;BC040932;BC062448;CH236949;CH471091;CR997756;KF458509;NG_011623;NM_005751;NM_147185;XM_005250102;XM_005250103;XM_006715827 AAB86384;AAB96867;AAC60380;AAD22767;AAD39719;AAH15533;AAH40932;AAK51115;AAS07419;AAT44400;BAA34523;BAA78718;BAG52021;CAA09361;CAB40713;CAB55912;EAL24155;EAL24156;EAL24157;EAL24158;EAW76860;EAW76861;EAW76862;EAW76863;EAW76864;EAW76865;EAW76866;EAW76867;EAW76868;NP_005742;NP_671714;Q99996;XP_005250159;XP_005250160;XP_006715890 Hs.651221 1339654;1646788;1655710;1667910;1691312;1691444;1691446;1691448;1691450;1691452;1691454;1695046;1772034;1786194;2133617;2139016;2155593;2166065;5109667;5118444;5491577 D11S3316;D7S1789;D7S2153E;D7S2313;D7S2653;D7S2654;G31811;G31814;G42119;G42120;G42121;G42122;G42123;G42124;G44753;MARC_21662-21663:1033410511:1;RH68133;RH80300;SHGC-105142;SHGC-31096;SHGC-36444 AKAP-9;AKAP350;AKAP450;CG-NAP;KIAA0803;LQT11;MU-RMS-40.16A;PPP1R45;PRKA9 A kinase (PRKA) anchor protein (yotiao) 9;A-kinase anchor protein 350 kDa;A-kinase anchor protein 450 kDa;A-kinase anchor protein 9;AKAP 120-like protein;AKAP9-BRAF fusion protein;HYPERION;OTTHUMP00000161771;YOTIAO;centrosome- and Golgi-localized PKN-associated protein;centrosome- and golgi-localized protein kinase N-associated protein;kinase N-associated protein;protein kinase A anchoring protein 9;protein phosphatase 1, regulatory subunit 45 APPROVED protein-coding ENSG00000127914 HGNC:379 04921 604001;611820 REVIEWED 8662510 AKIRIN1P1 akirin 1 pseudogene 1 12 12 12 80621004 80621535 - 80954792 80955323 - 80561013 80561544 - 100418731 ABBA01053493;AC074031;AMYH02026827;NG_024033;NG_034052 pseudo HGNC:50794 INFERRED 1606232 AKIRIN1 akirin 1 FOUND IN nuclear membrane; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 1 1 1 p34.3 37736663 37751818 + 39456916 39471737 + 38991244 39006065 + 6480464 12477932;14702039;15489334;16710414;18029348;18066067;19200367;19322201;24816145;8125298 79647 B4DQP0;H0YEQ5;Q9H9L7 ABBA01023227;ABBA01023228;AK022728;AK092624;AK124799;AK126262;AK223276;AK298890;AK303098;AL606465;AMYH02000823;AY326465;BC001498;BC119745;BC119746;CH471059;DB727813;NM_001136275;NM_024595 AAI19746;AAI19747;AAR99515;BAB14208;BAD96996;BAG61002;BAG64208;EAX07283;EAX07284;EAX07285;NP_001129747;NP_078871;Q9H9L7 Hs.293563 1655576;1689440;1691034;1693210;1788762;1849222 A004A36;AL033558;RH130590;RH64534;RH64664;RH80001 C1orf108;FLJ12666;RP11-781D11.2;STRF2 OTTHUMP00000008669;OTTHUMP00000232306;OTTHUMP00000232307;OTTHUMP00000232308;akirin-1 protein-coding ENSG00000174574 HGNC:25744 07787 615164 VALIDATED 1317188 AKIRIN2 akirin 2 ENCODES a protein that exhibits enzyme binding; INVOLVED IN innate immune response (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); positive regulation of cell proliferation (inferred); ASSOCIATED WITH Neoplasm Metastasis (ortholog); FOUND IN nucleus; transcriptional repressor complex (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 1-fluoro-2,4-dinitrobenzene; 17beta-estradiol 6 6 6 q15 88802600 88830001 - 88384578 88411985 - 87674860 87702267 - 2306009;6480464 18460465 12477932;14574404;14702039;15489334;16189514;17081983;18066067;19322201;21139048;23382074;24250222;24816145;8125298 55122 Q53H80;Q9NW35 ABBA01040504;AK001204;AK222701;AL133211;AMYH02014055;AMYH02014056;BC000764;BC003042;BC005051;BM996262;CH471051;CQ859732;NM_018064 AAH00764;AAH03042;AAH05051;BAA91551;BAD96421;CAH25916;EAW48578;NP_060534;Q53H80 Hs.485915 C6orf166;FBI1;FLJ10342;dJ486L4.2 OTTHUMP00000016836;akirin-2;fourteen-three-three beta interactant 1 protein-coding ENSG00000135334 HGNC:21407 12864 615165 VALIDATED 8662511 AKIRIN2P1 akirin 2 pseudogene 1 4 4 4 q31.23 148029452 148030460 + 150711110 150712118 + 149789958 149790966 + 9847074 100216487 ABBA01070080;AC093893;AMYH02010289;NG_009119 pseudo HGNC:50796 INFERRED 2300995 AKIRIN2-AS1 AKIRIN2 antisense RNA 1 6 6 q15 88828036 88828949 - 88410020 88410933 - 6480464 55389 AL133211;AL525197;BX101313;CH471051;NR_002767 EAW48579 Hs.485915 NCRNA00120;PRO2266 APPROVED miscrna HGNC:28822 1317844 AKNA AT-hook transcription factor ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; INTERACTS WITH benzene; cyclosporin A; thapsigargin 9 9 9 q32 87744104 87804342 - 117096429 117160783 - 114334149 114398503 - 6480464;8554872 11268217;11853319;12477932;14702039;15869410;16000308;19913121;19946888;20507260;20628086;21139048;21297967;21890473 80709 Q64FY1;Q7Z591 AB075848;ABBA01042667;ABBA01042668;ABBA01042669;AF286341;AK024431;AK055563;AK074040;AK090503;AK098036;AK126136;AK131082;AK160382;AL138895;AL356796;AL713755;AL833220;AMYH02021517;AMYH02021518;AY703039;AY703040;AY703041;AY703042;AY703043;AY703044;AY703045;AY703046;BC042202;BC055285;CH471090;HG502361;NM_030767;XM_005252243;XM_005252244;XM_005252245;XM_005252246;XM_005252247;XM_005252248;XM_006717294;XM_006717295 AAH42202;AAH55285;AAK83024;AAU34186;AAU34187;AAU34188;AAU34189;AAU34190;AAU34191;AAU34192;AAU34193;BAB15721;BAB84866;BAB85554;BAC85132;BAD18725;EAW87418;EAW87419;NP_110394;Q7Z591;XP_005252300;XP_005252301;XP_005252302;XP_005252303;XP_005252304;XP_005252305;XP_006717357;XP_006717358 Hs.494895 1656047;1661142;1677150;1849057;2122571;5020740;5020948;5022578;5024413;5024516;5037740 D13S1568;D1S1423;D1S3691;G17343;G30174;G35510;L17809;L17877;RH65860;RH98264;STS-X05784 FLJ31001;FLJ33184;KIAA1968;RP11-82I1.4;RP11-9M16.2 AKNA transcript F2;AT-hook transcription factor AKNA;AT-hook-containing transcription factor;OTTHUMP00000021973;OTTHUMP00000021974;OTTHUMP00000123514 protein-coding ENSG00000106948 HGNC:24108 16148 605729 VALIDATED 1604964 AKNAD1 AKNA domain containing 1 This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 1 1 1 p13.3 107628098 107669293 - 109358520 109400864 - 108815898 108858242 - 6480464 12477932;14702039;16344560;18029348;20379614;21832049;21897333;23648065 254268 B4DET8;F2Z2Q7;Q5T1N1;Q5T1N2 ABBA01068354;ABBA01068355;AK095517;AK313772;AL449266;AL832216;AMYH02001700;BC030647;BC150642;CH471122;DB054557;NG_032762;NM_152763;NR_049760 AAH30647;AAI50643;ABM82553;ABM85744;BAC04565;BAG36510;EAW56333;EAW56334;EAW56335;EAW56336;EAW56337;EAW56338;NP_689976;Q5T1N1 Hs.729441;Hs.744647 C1orf62;MGC26989;RP11-475E11.3 OTTHUMP00000012936;OTTHUMP00000012937;OTTHUMP00000013003;OTTHUMP00000013004 APPROVED protein-coding ENSG00000162641 HGNC:28398 11325 REVIEWED 68486 AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011] 1 1 1 p33-p32 44300464 44319706 + 46016455 46035723 + 45550783 45570051 + 1300048;6480464;6907045;8552778 23747692 10393438;10486210;10510318;11444797;11716357;12477932;15231747;15299353;15489334;15769597;1602151;16344560;16543247;17149600;18495158;18676680;1901806;19056867;19170196;19423521;19625176;19692168;20453000;21044950;2113526;21139048;21276435;21906983;23643085;24816145;2498333;3615425;7669785;7827091;8268209;8405190;9693960 10327 P14550;Q5T621;V9GYG2;V9GYP9;V9HWI0 ABBA01050863;ABBA01050864;AF036683;AF112482;AF112485;AK293083;AK307068;AK307237;AK307288;AL355480;AMYH02000934;AMYH02000935;AU142853;BC000670;BC005394;BC033287;BI549149;BT007003;BU631634;CH471059;CR457010;CX788871;DA550374;DA871469;EU668319;EU794588;J04794;NM_001202413;NM_001202414;NM_006066;NM_153326 AAA51711;AAB92369;AAF01260;AAH00670;AAH05394;AAP35649;ABM81608;ABM84696;ABM84791;ACF94472;ACJ13642;BAF85772;CAG33291;EAX06970;EAX06971;EAX06972;EAX06973;EAX06974;NP_001189342;NP_001189343;NP_006057;NP_697021;P14550 Hs.474584;Hs.721160 1660695;1742059;1754485;2132167;5014051;5015619;5021872;5023391;5037552 D11S3114;D1S3175;D8S2278;D8S2279;GDB:190072;RH71342;SHGC-132757;SHGC-74752;sY3084 ALDR1;ALR;ARM;DD3;HEL-S-6;MGC12529;MGC1380 HEL-S-165mP;OTTHUMP00000009240;OTTHUMP00000009241;alcohol dehydrogenase;alcohol dehydrogenase [NADP(+)];alcohol dehydrogenase [NADP+];aldehyde reductase;aldo-keto reductase family 1 member A1;dihydrodiol dehydrogenase 3;epididymis secretory protein Li 6;epididymis secretory sperm binding protein Li 165mP APPROVED protein-coding ENSG00000117448 HGNC:380 00069 103830 REVIEWED 732178 AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009] 7 7 7 q35 128864507 128881287 - 134127107 134143888 - 134442355 134459136 - 1626081;1626080;1626089;1626092;734542;1599728;1626082;1626083;1626084;1626087;1626088;1626079;1300048;1580863;6480464;6907045;8548683;8548684;8552778;5509919;8548813;8548671;8549559;8548642;8548641;8548668;8548674;8548675;8548781;8548638;8548676;8548685;8548672;8548678;8548640;8554872 10913167;11370705;12166624;12505670;15569136;16127462;16567803;16701918;16900242;16936110;16979157;17003340;17030682;17211565;17409277;17444799;17898287;18452283;19422879;19587357;21067572;21329682;21683810;23747692;23808167;24360973;8150024;8204669;9000706;9215310;9489533 10075698;10510318;11095596;11182213;11306081;11444797;11449315;11499839;11796181;11842041;11874426;11958479;12446366;12477932;12486717;12604221;12660865;12690205;1447221;14582038;14662023;14694017;14694018;14996095;15162486;15181092;15231748;15251463;15270790;15277434;15284219;15284221;15489334;15504980;15583024;15637423;15745835;15862967;15973199;16021519;16174723;16176189;1621098;16545977;16620264;16911628;16928730;16936152;17018629;17139089;17270157;17353931;17418233;17563730;17851230;17968325;18029348;18385795;18434430;18451330;18495158;18716049;1901827;1901857;19056867;19273550;19420105;19760097;19821053;19847669;19850041;19913121;20093363;20150532;20353610;20354121;20424224;20628086;20639865;20943776;21067489;21084309;2111143;2112546;21139048;21182935;21294693;21306562;21329684;21409599;21420193;21637955;21853274;21890473;21906983;21963094;21987572;22360420;22505724;22561432;22649481;22658411;22844269;22939629;22978663;23000965;23029549;23146748;23517423;23732517;24100137;24186862;24337577;24474649;24698671;24816145;2492527;2498333;2504709;2510130;6417042;7789640;8234324;8245005;8268209;8281941;8343525;8347133;8405190;8435445;8615700;8645003;8877273;9195951;9405046;9565553 231 E9PCX2;E9PEF9;P15121 AB209796;ABBA01001109;AC078847;AF032455;AF328729;AK311339;AK313439;AL833410;AMYH02016808;BC000260;BC005387;BC010391;BT019859;CH236950;CH471070;CR450351;CR542203;HH961838;J04795;J05017;J05474;M34720;M34721;M59783;NM_001628;U72619;X15414;XM_005250234 AAA35560;AAA35561;AAA51712;AAA51713;AAA51714;AAA51715;AAB61992;AAB88851;AAH00260;AAH05387;AAH10391;AAN09721;AAV38662;ABM81684;ABM83472;ABM84847;ABM86683;BAD93033;BAG36230;CAA33460;CAG29347;CAG47000;CBX51392;EAL24070;EAW83814;EAW83815;NP_001619;P15121;XP_005250291 Hs.521212 2107823;2155654;2166727;5014051;5015619;5022651;5024092;5037552;5109281;5115477 AKR1B1_8199;ALDR1;D11S2921;D11S3114;D1S1425;D8S2278;D8S2279;GDB:4585363;J05017;WI-18828 ADR;ALDR1;ALR2;AR;MGC1804 Lii5-2 CTCL tumor antigen;OTTHUMP00000207727;OTTHUMP00000207728;aldehyde reductase 1;aldehyde reductase 1 (low km aldose reductase) (5.8 kb psti fragment, probably the functional gene);aldo-keto reductase family 1 member B1;aldose reductase;low Km aldose reductase APPROVED protein-coding ENSG00000085662 HGNC:381 00071 103880 REVIEWED 1317959 AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008] 7 7 7 q33 128949765 128963585 + 134212344 134226166 + 134527592 134541414 + 1580863;2311149;2311151;2311150;6480464;6903952;6903957;6907045;8554872 12706323;15318096;15563966;16970545;20709016 11703436;12365083;12477932;12732097;12882871;15489334;15745835;15928807;15936242;16127462;16204895;17209433;17300864;17425679;17597105;17905306;18056116;18087047;18325492;18358633;18396902;18788756;19028477;19236911;19464995;19563777;19643728;19913121;20007578;20036025;20586184;20628086;20705797;20943077;21044950;21277289;21317765;21329684;21585341;21645211;21672310;22014576;22198799;22222635;22329800;22498646;22681639;23146748;23438482;23912490;24100137;24140838;24217247;24391771;24406159;24656094;8889548;9537432;9565553;9765596 57016 O60218 ABBA01001110;AC078847;AF044961;AF052577;AF524864;AMYH02016808;BC008837;BM975664;BT006794;CH236950;CH471070;CR541801;NM_020299;U37100;XM_005250506;XM_006716060 AAC15671;AAC17469;AAC36465;AAH08837;AAO13380;AAP35440;ABM81604;ABW03272;CAG46600;EAL24069;EAW83816;NP_064695;O60218;XP_005250563;XP_006716123 Hs.116724 5014023 D13S1553 AKR1B11;AKR1B12;ALDRLn;ARL-1;ARL1;ARP;HIS;HSI;MGC14103;hARP OTTHUMP00000207788;SI reductase;aldo-keto reductase family 1 member B10;aldo-keto reductase family 1, member B11 (aldose reductase-like);aldose reductase-like 1;aldose reductase-like peptide;aldose reductase-related protein;small intestine reductase APPROVED protein-coding ENSG00000198074 HGNC:382 05271 604707 REVIEWED 7240879 AKR1B10P1 aldo-keto reductase family 1, member B10 pseudogene 1 10 10 10 q21.3 62784921 62785866 + 69510042 69510987 + 67750284 67751229 + 340888 ABBA01019548;AL607022;AMYH02023242;NG_022180 pseudo HGNC:45062 INFERRED 7240883 AKR1B10P2 aldo-keto reductase family 1, member B10 pseudogene 2 18 18 18 q22.1 62972479 62973391 + 66123187 66124107 + 68455950 68456870 + 643582 ABBA01056269;AC005909;AMYH02034918;NG_022495 1783754 SHGC-172083 pseudo HGNC:45063 INFERRED 3516654 AKR1B15 aldo-keto reductase family 1, member B15 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 4-nitrobenzaldehyde; benzo[a]pyrene; copper(2+) sulfate 7 7 7 q33 128971267 129002011 + 134233849 134264615 + 134549097 134579863 + 6480464;8554872 12477932;12690205;20834067;20877624;21276782;22277967;22970857 441282 C9JRZ8 ABBA01001110;AC078847;AMYH02016808;BC072676;BX335355;CH236950;CH471070;NM_001080538;XM_005250364;XM_005250365 C9JRZ8;EAL24068;EAW83819;NP_001074007;XP_005250421;XP_005250422 Hs.729418 AKR1B10L;AKR1B10L, AK1R1B7 OTTHUMP00000207847;aldo-keto reductase family 1 member B15;aldo-keto reductase family 1, member B10-like;putative aldo-keto reductase family 1 member B15 protein-coding ENSG00000227471 HGNC:37281 VALIDATED 1345706 AKR1B1P1 aldehyde reductase family 1, member B1 pseudogene 1 1 1 1 q42.12 197952705 197953892 + 224762103 224763290 + 224574401 224575588 + 8244370 401982 ABBA01009684;AC096537;AMYH02002778;NG_006432 ALDRL1 pseudo HGNC:420 INFERRED 1351686 AKR1B1P3 aldo-keto reductase family 1, member B1 pseudogene 3 11 11 11 p15.1 16632370 16633567 - 16504909 16506256 - 16483362 16484709 - 8244370 729347 ABBA01061086;AC100865;AMYH02024369;NG_007132 ALDRL3 pseudo HGNC:422 INFERRED 1343467 AKR1B1P2 aldo-keto reductase family 1, member B1 pseudogene 2 3 3 3 p12 74120460 74122119 + 74185078 74186739 + 74135927 74137588 + 1612607;8244370 236 ABBA01030975;AC117458;AMYH02007074;M84454;NG_001071 1743081 GDB:251788 ALDRP pseudo HGNC:425 INFERRED 1349917 AKR1B1P4 aldo-keto reductase family 1, member B1 pseudogene 4 13 13 13 q14.13 27316188 27317297 - 46261327 46262645 - 45687192 45688510 - 8244370 390402 ABBA01050980;AL139320;AMYH02027978;NG_006989 ALDRL4 pseudo HGNC:423 INFERRED 1345288 AKR1B1P5 aldo-keto reductase family 1, member B1 pseudogene 5 14 14 14 q23.1 39651600 39652860 - 59601840 59603169 - 59135122 59136451 - 390482 ABBA01018269;AL359219;AMYH02029287;NG_007013 AKR1B1P pseudo HGNC:20002 INFERRED 3207496 AKR1B1P6 aldo-keto reductase family 1, member B1 pseudogene 6 18 18 18 p11.22 8429987 8431097 + 8545647 8546757 + 8545649 8546759 + 100129769 ABBA01049934;AMYH02034279;AP001793;NG_017129 pseudo HGNC:33498 INFERRED 1626553 AKR1B1P8 aldo-keto reductase family 1, member B1 pseudogene 8 X X X q23 115962985 115963926 - 115174736 115175677 + 116043483 116044424 + 392525 ABBA01049289;AL772226;AMYH02040296;BX546470;NG_009682 pseudo HGNC:33496 INFERRED 1626550 AKR1B1P7 aldo-keto reductase family 1, member B1 pseudogene 7 19 19 19 q13.11 30544773 30545941 - 33851032 33852371 - 33360126 33361465 - 126242 ABBA01012594;AC008744;AMYH02035938;NG_009664 2155654 GDB:4585363 pseudo HGNC:33497 INFERRED 1353901 AKR1C2 aldo-keto reductase family 1, member C2 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 p15-p14 4972245 5000184 - 5029967 5060225 - 4987775 5018033 - 1580863;1626148;6480464;6907045;8699517;8554872;7240710 15494612 10672042;11513593;11514561;11854486;12416991;12477932;12810547;13678667;14671194;14702039;15188492;15212687;15383625;15489334;15492289;16216911;16344560;16411748;16478829;17203165;17432832;18251165;18396902;18508192;18654764;18984855;19258517;19320734;19487289;19754879;19846565;20056642;20689807;20734064;20840669;21217827;21232532;21280124;21521174;21802064;2187532;22064385;22275760;22534668;24244276;24434280;24816145;7789999;7959017;8011662;8274401;8486699;8573067;8889548;8920937;9716498 1646 B4DK69;P52895;S4R3P0 AB021654;AB031084;AB032153;AB209017;ABBA01035203;AK091194;AK290304;AK296419;AK296686;AK308385;AL391427;AL713867;AMYH02022028;AX710070;BC007024;BC063574;BT006653;CA450425;DA451165;DA458030;L32592;M33376;NG_031852;NM_001135241;NM_001354;NM_205845;S68330;U05598 AAA20937;AAB38486;AAD14013;AAH07024;AAH63574;AAP35299;ABM81606;ABM84788;BAA36169;BAA92884;BAA92891;BAD92254;BAF82993;BAG59081;BAG59281;CAD88527;NP_001128713;NP_001345;NP_995317;P52895 Hs.460260;Hs.567256;Hs.734597 1683649;1684538;1714855;1781868;2157929;5125451 RH11162;RH120422;RH92273;SHGC-100143;SHGC-12403;STS-U05861 3-alpha-HSD3;AKR1C-pseudo;BABP;DD;DD-2;DD/BABP;DD2;DDH2;FLJ53800;HAKRD;HBAB;MCDR2;SRXY8;TDD 3-alpha hydroxysteroid dehydrogenase, type III;OTTHUMP00000018995;aldo-keto reductase family 1 member C2;bile acid binding protein;chlordecone reductase homolog HAKRD;dihydrodiol dehydrogenase 2;dihydrodiol dehydrogenase/bile acid-binding protein;pseudo-chlordecone reductase;testicular 17,20-desmolase deficiency;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;type II dihydrodiol dehydrogenase;type III 3-alpha-hydroxysteroid dehydrogenase 2315438 INSUL41_H APPROVED protein-coding ENSG00000151632 HGNC:385 11857 600450;614279 REVIEWED 1315695 AKR1C1 aldo-keto reductase family 1, member C1 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] 10 10 10 p15-p14 2385 9221 + 5005454 5020158 + 4963262 4977966 + 1580863;1626148;6480464;6907045 15494612 10510318;10672042;11013348;11514561;11956619;12477932;12579257;12733716;12899831;13678667;15164054;15212687;15489334;15492289;16079077;16338060;16361083;16385451;16543247;16712791;17149600;17618725;17697149;17945194;18624398;18654764;18984031;19218247;19320734;19423521;19442656;19487289;19696165;19738201;19846565;20201926;20673851;20689807;20727920;21217827;21232532;21521174;21900206;22064385;22278827;22566634;23165153;23183084;23933386;24189185;24816145;7515059;7626489;7789999;8011662;8132567;8172617;8274401;8486699;8573067 1645 A6NHU4;H0Y804;Q04828 AB031083;AB032150;ABBA01035203;AC091817;AK310658;AL713867;AMYH02022028;BC015490;BC020216;BC040210;BM923712;BT007197;CB119749;D26124;M86609;NM_001353;S68290;U05684;U05861 AAA16227;AAA18115;AAB02880;AAD14012;AAH15490;AAH20216;AAH40210;AAP35861;ABM82410;ABM84849;BAA05121;BAA92883;BAA92886;NP_001344;Q04828 Hs.460260 1646803;1683649;1684538;1781868;2157929;5125451 RH11162;RH92273;SHGC-100143;SHGC-12403;STS-R98791;STS-U05861 2-ALPHA-HSD;20-ALPHA-HSD;C9;DD1;DD1/DD2;DDH;DDH1;H-37;HAKRC;HBAB;MBAB;MGC8954 20 alpha-hydroxysteroid dehydrogenase;20-alpha (3-alpha)-hydroxysteroid dehydrogenase;20-alpha-hydroxysteroid dehydrogenase;OTTHUMP00000018992;OTTHUMP00000018993;aldo-keto reductase C;aldo-keto reductase family 1 member C1;chlordecone reductase homolog HAKRC;dihydrodiol dehydrogenase 1;dihydrodiol dehydrogenase 1/2;dihydrodiol dehydrogenase isoform DD1;hepatic dihydrodiol dehydrogenase;high-affinity hepatic bile acid-binding protein;indanol dehydrogenase;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;type II 3-alpha-hydroxysteroid dehydrogenase APPROVED protein-coding HGNC:384 07194 600449 REVIEWED 1352888 AKR1C3 aldo-keto reductase family 1, member C3 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 p15-p14 5076549 5089836 + 5090958 5149878 + 5048766 5107686 + 1580863;6480464;6907045;8552774;8554872 12432932 10393440;10557352;10622721;10672042;10998348;11076863;11165022;11256614;12477932;13678667;14671194;14979715;14996743;14997212;15087468;15164054;15212687;15284179;15489334;15489336;15582534;15781210;15814298;16157291;16169070;16189514;16263811;16302261;16337083;16338060;16381901;16475787;16480815;16601286;16983398;17071532;17149600;17166832;17220347;17507624;17583494;17697149;17940109;18306354;18339682;18508192;18552976;18574251;18632753;18641923;18676680;18692800;18984855;18996480;19007764;19162045;19170196;19273550;19320734;19336370;19336506;19423521;19442656;19460435;19487289;19574343;19625176;19692168;19846565;19942269;20036328;20086173;20126582;20145130;20201926;20379614;20453000;20634197;20661409;20689807;20734064;21039282;21151387;21232532;21323680;21365123;21444150;21521174;21851338;21886157;21963094;22170488;22505408;22670171;23024260;23116553;23165153;23183084;23196782;23519145;23748150;24012099;24228104;24244276;24316309;24571686;24816145;24832494;7626489;7650035;7788527;7789999;8274401;8718859;8889549;9415401;9792917;9862446;9927279 8644 B4DKT3;P42330;S4R3D5;S4R3Z2 AB018580;AB028065;AB032157;ABBA01035203;AF149416;AK290365;AK296701;AK296829;AK310940;AK315411;AL391427;AMYH02022028;AV761799;BC001479;BC019230;BG547635;BT007286;CH471072;D17793;DQ269985;H79159;KF455197;L43839;NM_001253908;NM_001253909;NM_003739;S68288 AAB41916;AAD14011;AAF07272;AAH01479;AAH19230;AAP35950;ABB76132;ABM81605;ABM84786;ACT64584;ACT64585;BAA04619;BAA88488;BAA88489;BAA92892;BAF83054;BAG59295;BAG59399;CAL37801;EAW86452;EAW86453;EAW86454;NP_001240837;NP_001240838;NP_003730;P42330 Hs.78183 1678215;2154796;2157562;2183315;5097053 D10S1443;G62081;RH1568;RH25343;SHGC-31479 DD3;DDX;HA1753;HAKRB;HSD17B5;KIAA0119;PGFS;hluPGFS 3-alpha hydroxysteroid dehydrogenase, type II;3-alpha-HSD type II, brain;HAKRe;OTTHUMP00000018996;aldo-keto reductase family 1 member C3;aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II);chlordecone reductase homolog HAKRb;dihydrodiol dehydrogenase 3;dihydrodiol dehydrogenase X;indanol dehydrogenase;prostaglandin F synthase;testosterone 17-beta-dehydrogenase 5;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;type IIb 3-alpha hydroxysteroid dehydrogenase APPROVED protein-coding ENSG00000196139 HGNC:386 04911 603966 REVIEWED 7175943 AKR1C5P aldo-keto reductase family 1, member C5, pseudogene 10 5164273 5177418 - 100996684 ABBA01035202;ABBA01035203;AL391427;AMYH02022028 pseudo HGNC:44679 MODEL 7176848 AKR1C6P aldo-keto reductase family 1, member C6, pseudogene INTERACTS WITH aflatoxin B1; cyclosporin A; phenobarbital 10 10 10 p15.1 4856785 4901391 - 4913859 4958465 - 4871667 4916273 - 6480464 10672042;16344560;16712791 389932 AB037902;AB037903;AB037905;ABBA01035203;AC091817;AMYH02022027;CB111913;CS300815;DA643129;NR_026743 BAA92887;BAA92888;BAA92889;BAA92890;CAK32479 Hs.631812 1753721 SHGC-107770 TAKR pseudo HGNC:44680 VALIDATED 1347108 AKR1C4 aldo-keto reductase family 1, member C4 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] 10 10 10 p15.1 5179002 5201106 + 5238798 5260910 + 5196835 5218947 + 1580863;6480464;6907045;8554872;7240710 10634139;10672042;11158055;11284743;12220531;12477932;12544512;15164054;1530633;15489334;15987428;16344854;16385451;17207797;18676680;19013211;19170196;19487289;19625176;19692168;20201926;20214802;21521174;21570127;2187532;22356824;23824909;24097068;24189185;24816145;7626489;7650035;7789999;8172617;8274401 1109 AAB47003;P17516 AB031085;AB032163;AB045829;ABBA01035201;AK314988;AL355303;AMYH02022029;BC020744;CH471072;D26125;D89962;HH961842;M33375;NG_031872;NM_001818;S68287 AAA35658;AAB47003;AAD14010;AAH20744;ABM82350;ABM85524;BAA05122;BAA92885;BAA92893;BAA99542;BAB43901;CBX51394;EAW86450;NP_001809;P17516 Hs.567245 1775274;2154306;5097053;5113286 G62081;RH44128;STS-S68287;STS-T62885 3-alpha-HSD;3-alpha-HSD1;C11;CDR;CHDR;DD-4;DD4;MGC22581 3 alpha-hydroxysteroid dehydrogenase/dihydrodiol dehydrogenase 4;3-alpha hydroxysteroid dehydrogenase, type I;3-alpha-hydroxysteroid dehydrogenase type I;HAKRA;OTTHUMP00000018997;aldo-keto reductase family 1 member C4;chlordecone reductase;dihydrodiol dehydrogenase 4;dihydrodiol dehydrogenase isozyme DD4;type I 3-alpha-hydroxysteroid dehydrogenase APPROVED protein-coding ENSG00000198610 HGNC:387 07040 600451;614279 REVIEWED 7176336 AKR1C7P aldo-keto reductase family 1, member C7, pseudogene 10 10 10 p15.1 5229492 5244507 - 5317169 5327888 - 5275206 5285925 - 648947 ABBA01035199;AL355303;AMYH02022039;NG_023403 1335493;1648129 D10S1713;D22S667 pseudo HGNC:44681 INFERRED 1316753 AKR1C8P aldo-keto reductase family 1, member C8, pseudogene ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 10 10 10 p15.1 5136630 5167354 - 5196655 5227150 - 5154460 5185187 - 6480464 12477932;15164054 340811 Q5T2L2 ABBA01035201;ABBA01035202;AK131335;AL355303;AMYH02022028;AMYH02022029;BC101204;BC101205;CH471072;NR_027916 AAI01205;AAI01206;BAD18494;EAW86451;Q5T2L2 Hs.282513 1752695 SHGC-106506 FLJ16347 APPROVED pseudo ENSG00000264006 HGNC:23469 16480 VALIDATED 736637 AKR1D1 aldo-keto reductase family 1, member D1 The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010] 7 7 7 q32-q33 132499985 132541839 + 137761178 137803050 + 138076432 138118304 + 1580863;6480464;6907045;7240710;8554872;8699517 10343119;11329013;11342103;12477932;12690205;16123077;16712791;18407998;18848863;19013211;19075558;19175828;19212619;20379614;20522910;20800085;21185810;21255593;22437839;23092984;23679950;23704699;24189185;24894951;7508385;9024384 6718 C9J3U1;P51857 ABBA01001154;ABBA01001155;AC024082;AC083867;AF283651;AF283652;AF283653;AF283654;AF283655;AF283656;AF283657;AF283658;AF283659;AK058142;AK289425;AK298421;AK298428;AMYH02016854;AMYH02016855;BC130625;BC130627;BG210362;CB111926;CH236950;CH471070;FM160741;FM160742;FM160743;NG_023342;NM_001190906;NM_001190907;NM_005989;Z28339 AAG39381;AAI30626;AAI30628;ADR83138;BAB71682;BAF82114;BAG60645;BAG60650;CAA82193;CAQ55951;CAQ55952;CAQ55953;EAL24049;EAW83881;EAW83882;NP_001177835;NP_001177836;NP_005980;P51857 Hs.201667;Hs.740214 2141696;5037552 D8S2279;SHGC-35425 3o5bred;CBAS2;SRD5B1 3-oxo-5-beta-steroid 4-dehydrogenase;OTTHUMP00000208643;OTTHUMP00000208644;OTTHUMP00000208645;aldo-keto reductase family 1 member D1;delta 4-3-ketosteroid-5-beta-reductase;delta(4)-3-ketosteroid 5-beta-reductase;delta(4)-3-oxosteroid 5-beta-reductase;steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1) APPROVED protein-coding ENSG00000122787 HGNC:388 07263 235555;604741 REVIEWED 1345885 AKR1D1P1 aldo-keto reductase family 1, member D1 pseudogene 1 1 1 1 q24 140598070 140614609 + 167488787 167505324 + 167519550 167536087 + 10343119;11342103 80701 ABBA01047243;AF283650;AL031733;AMYH02002091;AMYH02002092;KF455053;NG_002683 2120828 WI-15523 AKR1D1P;SRD5BP1 steroid-5-beta-reductase, beta polypeptide pseudogene 1 APPROVED pseudo HGNC:11288 INFERRED 1320023 AKR1E2 aldo-keto reductase family 1, member E2 The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 10 10 10 p15.1 4811323 4833177 + 4868369 4890254 + 4824673 4854130 + 1580863;6480464 12477932;12604216;15118078;16344560;16385451;17207965;19706366;20662065;8889548 83592 E9PK93;G3V1C1;H0YCI2;H0YDE8;Q96JD6 AB040820;AB040821;AB040822;AB055603;ABBA01035203;AC091817;AF263242;AK074211;AK302155;AMYH02022027;BC002862;BC023972;BI756016;BM724648;BU741321;CH471072;DA006578;NM_001040177;NM_001271021;NM_001271025;NR_073125;NR_073126;NR_073127;XM_006717511;XM_006717512;XM_006717513;XM_006717514;XM_006717515 AAH02862;AAK58523;ADQ32301;BAC54565;BAC54566;BAC54567;BAC54568;BAH13638;EAW86461;EAW86462;EAW86463;EAW86464;EAW86465;EAW86466;NP_001035267;NP_001257950;NP_001257954;Q96JD6;XP_006717574;XP_006717575;XP_006717576;XP_006717577;XP_006717578 Hs.657944 2107825 AKR1CL2_8107 AKR1CL2;AKRDC1;MGC10612;hTSP;htAKR 1,5-anhydro-D-fructose reductase;AF reductase;LoopADR;OTTHUMP00000018989;OTTHUMP00000018990;OTTHUMP00000018991;OTTHUMP00000229818;OTTHUMP00000229819;OTTHUMP00000237878;aldo-keto reductase family 1 member C-like protein 2;aldo-keto reductase family 1, member C-like 2;aldo-keto reductase loopADR;aldo-keto reductase related protein;testis-specific protein APPROVED protein-coding ENSG00000165568 HGNC:23437 07472 REVIEWED 732683 AKR7A2 aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. [provided by RefSeq, Oct 2011] 1 1 1 p36.13 17957442 17965624 - 19629202 19638640 - 19302708 19312146 - 1580863;6480464 12071861;12477932;12879023;15489334;15967462;16189514;16429158;16710414;17591773;18752886;19056867;19077459;19738201;20877624;21044367;21139048;21890473;21906983;22623428;24250222;24816145;8125298;8889549;9576847;9823300 8574 H3BLU7;H7C4Q7;H7C5H7;O43488;V9HWA2 AA037839;ABBA01059756;AF026947;AK225267;AK303131;AK310609;AL035413;AMYH02000421;BC004111;BC007352;BC010852;BC011586;BC012171;BC013996;BG385885;BK000395;BM551906;BT007347;BU944847;CH471134;EU794591;NM_003689;Y16675 AAC52104;AAH04111;AAH07352;AAH10852;AAH11586;AAH12171;AAH13996;AAP36011;ABM81929;ABM85108;ACJ13645;BAG64236;CAA76347;DAA00088;EAW94881;NP_003680;O43488 Hs.571886 1660091;1739385;2118775;2185425 D1S2409;D1S316E;SHGC-74333;STS-AA037839 AFAR;AFAR1;AFB1-AR1;AKR7 AFB1 aldehyde reductase 1;AFB1-AR 1;HEL-S-166mP;OTTHUMP00000002622;OTTHUMP00000215517;OTTHUMP00000215519;SSA reductase;aflatoxin B1 aldehyde reductase member 2;aflatoxin beta1 aldehyde reductase;aldoketoreductase 7;epididymis secretory sperm binding protein Li 166mP;succinic semialdehyde reductase APPROVED protein-coding HGNC:389 04567 603418 REVIEWED 4144516 AKR7A2P1 aldo-keto reductase family 7, member A2 pseudogene 1 1 1 1 p12 111694814 111696137 + 113465972 113467295 + 112923350 112924673 + 6480464 12879023;19706366;20467438 246182 Q8NHP2 ABBA01068436;AJ277796;AL158844;AMYH02001753;NG_015880;NR_002796 CAC81911 Hs.647691 AFARP1 pseudo HGNC:24062 VALIDATED 1605840 AKR7L aldo-keto reductase family 7-like This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a duplicated pseudogene, and it is therefore represented as such in this Gene record. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] 1 1 1 p36.13 17919460 17927552 - 19592476 19600568 - 19265982 19274074 - 6480464;8554872 12477932;12604248;12879023;15146197;16710414;20171287;21906983;24816145 246181 Q8NHP1 ABBA01059756;AJ278012;AL035413;AMYH02000420;AMYH02000421;BC035351;BX281656;CH471134;CN359627;NR_040288;NR_040289 AAH35351;CAC79668;EAW94876;EAW94877;Q8NHP1 Hs.662342 2185425;5017433 SHGC-74333;STS-T76997 AFAR3;AFB1-AR3;AKR7A4 AFB1 aldehyde reductase 3;AFB1-AR 3;OTTHUMP00000211099;OTTHUMP00000211100;OTTHUMP00000211101;aflatoxin B1 aldehyde reductase 3;aflatoxin B1 aldehyde reductase member 4;aldoketoreductase 7-like APPROVED pseudo ENSG00000211454 HGNC:24056 12240 608478 REVIEWED 733693 AKR7A3 aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004] 1 1 1 p36.13 17936048 17942271 - 19609057 19615280 - 19282563 19288786 - 1580863;6480464 10383892;12477932;12879023;15489334;16189514;16341674;16710414;19056867;20453000;21044950;23824909 22977 O95154 AA844782;ABBA01059756;AF040639;AJ271799;AL035413;AMYH02000421;BC025709;BC031562;BC042420;BG747063;BM855386;BM920315;CH471134;NM_012067 AAD02195;AAH25709;AAH31562;AAH42420;ABW03342;ABW03686;ACE86642;ACE87324;CAC81076;EAW94878;EAW94879;NP_036199;O95154 Hs.6980 AFAR2 AFB1 aldehyde reductase 2;AFB1-AR 2;OTTHUMP00000002623;aflatoxin B1 aldehyde reductase 2;aflatoxin B1 aldehyde reductase member 3;aflatoxin b1 aldehyde reductase APPROVED protein-coding HGNC:390 07089 608477 VALIDATED 1323832 AKT1S1 AKT1 substrate 1 (proline-rich) AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008] 19 19 19 q13.33 47241806 47250153 - 50372290 50381613 - 49869033 49878356 - 737633;2308795;6480464;6484113;8554872 12477932;19339977 12524439;14702039;14973226;15161933;15302935;15324660;15489334;16169070;16174443;16344560;17081983;17277771;17386266;17510057;17604271;18030348;18215133;18372248;18570873;19446321;20169205;21886838;21900206;21906675;21910584;21914810;21981924;22090422;22241085;22354785;22863883;22873724;23444366;23460019;23712034;24255178;8125298 84335 H9KV91;M0R2V8;Q96B36 ABBA01032908;AC118341;AK055511;AK092610;AK123687;AK226004;AK316603;AMYH02036332;BC000031;BC007416;BC015562;BC016043;BC022241;BC051844;CH471177;DA005259;DA476468;DA542314;DA848626;NM_001098632;NM_001098633;NM_001278159;NM_001278160;NM_032375 AAH00031;AAH07416;AAH15562;AAH16043;AAH51844;BAB70937;BAG38190;BAG52583;EAW52568;EAW52569;EAW52570;EAW52571;NP_001092102;NP_001092103;NP_001265088;NP_001265089;NP_115751;Q96B36 Hs.515542;Hs.610819 2168315 RH36488 Lobe;MGC2865;PRAS40 40 kDa proline-rich AKT substrate;OTTHUMP00000196756;OTTHUMP00000196757;OTTHUMP00000196758;OTTHUMP00000196759;OTTHUMP00000196760;proline-rich AKT1 substrate 1;proline-rich Akt substrate, 40 kDa APPROVED protein-coding ENSG00000204673 HGNC:28426 12441 610221 VALIDATED 732909 AKT1 v-akt murine thymoma viral oncogene homolog 1 The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. 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207 B0LPE5;B3KVH4;G3V2I6;G3V3K5;G3V3X1;G3V4I6;P31749 A62733;A63232;AB451242;AB451367;ABBA01002983;ABBA01002984;ABBA01002985;AF283830;AK094287;AK122894;AK131465;AK299310;AK314256;AL583722;AL590327;AMYH02029951;AMYH02029952;BC000479;BC001737;BC063408;BC084538;BX647722;BX648205;CH471061;CN414251;EU332835;JC006886;JX512440;KF836747;KF836748;KF836749;KF836750;M63167;NG_012188;NM_001014431;NM_001014432;NM_005163;X61037;XM_005267401 AAA36539;AAH00479;AAH01737;AAH84538;AAL55732;ABY87524;ACE86973;ACE87663;AGC09587;AHA61679;AHA61680;AHA61681;AHA61682;BAG36922;BAG53786;BAG70056;BAG70181;BAH12997;CAA03677;CAA03712;CAA43372;CDL93491;EAW81881;EAW81882;EAW81883;NP_001014431;NP_001014432;NP_005154;P31749;XP_005267458 Hs.525622 1668790;1696900;1774972;1792560;1795336;2144067;5022322 AKT1_41;D11S2560;PMC15397P1;RH101916;RH47592;RH69160;STS-AA041305 AKT;CWS6;MGC99656;PKB;PKB-ALPHA;PRKBA;RAC;RAC-ALPHA AKT1m;OTTHUMP00000244411;OTTHUMP00000244432;OTTHUMP00000244433;OTTHUMP00000244434;OTTHUMP00000244435;OTTHUMP00000244438;OTTHUMP00000244439;PKB alpha;RAC-PK-alpha;RAC-alpha serine/threonine-protein kinase;protein kinase B;protein kinase B alpha;proto-oncogene c-Akt;rac protein kinase alpha APPROVED protein-coding ENSG00000142208 HGNC:391 01261 114480;114500;164730;167000;176920;181500;615109 REVIEWED 732407 AKT2 v-akt murine thymoma viral oncogene homolog 2 This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. The gene was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins. [provided by RefSeq, Jul 2008] 19 19 19 q13.1-q13.2 37535771 37590707 - 40736224 40791443 - 40230317 40285536 - 1580863;734545;1601155;734958;632179;2313347;2311130;2313406;2313763;2315599;2313297;2313299;2313320;2313405;2313409;2313410;2315600;2315603;2302395;2302397;2313350;2313316;2313408;2306432;2313394;2307342;2290458;2290476;5490965;6480464;6484113;6907045;7240710;7248544;7248543;8554872;8699517 11311245;11387480;11756242;12089343;12145152;12663464;12782654;12902546;15166380;16418318;16721043;16847462;17210696;17327441;17629673;17641274;17923673;18204829;18508911;18570632;18955974;18972094;19084003;19289493;19309364;19330838;19470471;19491266;19506583;21979934 10490823;10491192;10869418;10983986;11139588;11156964;11208609;11278835;11313479;11432835;11445557;11500317;11507039;11546794;11707444;11781143;11903042;11948187;11988487;11994280;12048203;12114503;12149249;12167664;12176337;12176997;12181350;12434148;12477932;12480711;12482965;12517337;12517798;12524439;12545160;12697749;12733712;12791994;12808085;1409633;14500673;14504284;14612499;14637151;14645242;14654898;14699494;14702039;14735903;14973226;15010337;15070827;15102693;15111130;15144186;15146197;15314020;15489334;15531580;15557754;15616007;15678105;15689238;15890450;15987444;16221682;16365168;16402276;16524887;16540465;16814735;16841089;16982699;17012749;17030088;17157319;17276404;17332325;17349711;17372934;17482291;17535800;17576055;17577629;17804734;17825284;17895832;17908691;17914025;17962807;1801921;18048359;18187620;18281467;18300076;18316591;18353613;18660489;18768676;18826950;18842333;18996102;19064572;19074768;19075230;19079138;19110052;19164214;19197940;19261608;19435822;19453261;19479051;19713527;19771908;19797172;19825827;19843246;19875456;19913121;19933843;20012528;20018949;20019835;20041213;20056178;20056908;20059950;20102399;20109457;20116920;20133737;20167810;20186503;20354455;20398329;20409325;20447721;20514445;20602615;20628086;20661303;20687898;20688159;20691427;20818790;20848774;20856200;21029719;21048031;21050850;21092549;21179235;21182834;21297943;21423810;21432781;21483469;21507933;21518566;21590431;21606541;21618512;21636708;21680733;21697490;21722267;21763505;21765914;21832049;21890473;21906983;21932427;21979951;21988832;22031698;22107784;22158034;22261254;22480544;22556379;22748472;22778840;22809628;22904195;22939624;22952844;23018889;23077641;23092922;23250987;23251686;23301033;23305873;23321478;23444369;23464484;23468863;23567263;23604117;23742646;23746211;23777806;23811558;23900341;23929892;24030155;24039187;24056770;24123662;24244431;24247267;24250222;24321521;24623414;24642468;24656454;24769357;24797263;24816145;3037531;8622988;8889548;9374542;9394803;9512493;9528769;9736715 208 A8MX96;B4DG79;C9J258;C9JC83;C9JHS6;C9JIF6;C9JIJ1;E7EVP8;F6YBB4;J3KRI8;J3KSY8;J3KT31;J3KTC6;J3KTP4;J3QKW1;J3QL45;J3QLS6;J3QQM6;M0QZK3;M0QZW8;M0R0P9;M0R275;M0R283;P31751;Q0VAN0 ABBA01040746;ABBA01040747;ABBA01040748;AC118344;AK054771;AK055779;AK122839;AK294453;AK304209;AK308006;AK308906;AK314619;AMYH02036106;AMYH02036107;AMYH02036108;AMYH02036109;AY708392;BC022779;BC032709;BC040028;BC063421;BC120994;BC120995;BM675176;BQ219902;CH471126;CN351354;KC877734;M77198;M95936;NG_012038;NM_001243027;NM_001243028;NM_001626;XM_006723081;XM_006723082;XM_006723083;XM_006723084;XM_006723085 AAA36585;AAA58364;AAH22779;AAH32709;AAH63421;AAI20995;AAI20996;AAT97984;BAG37185;BAG51573;BAG57690;BAH14135;EAW56941;EAW56942;EAW56943;NP_001229956;NP_001229957;NP_001617;P31751;XP_006723144;XP_006723145;XP_006723146;XP_006723147;XP_006723148 Hs.631535 1767805;2125795;5015861;5037552;7185938 D10S16;D8S2279;RH11487;SGC30851 HIHGHH;PKBB;PKBBETA;PRKBB;RAC-BETA Murine thymoma viral (v-akt) homolog-2;OTTHUMP00000174417;PKB beta;RAC-PK-beta;RAC-beta serine/threonine-protein kinase;murine thymoma viral (v-akt) oncogene homolog 2;protein kinase Akt-2;protein kinase B beta;rac protein kinase beta APPROVED protein-coding ENSG00000105221 HGNC:392 01262 125853;164731;240900 REVIEWED 6481089 AKT3-IT1 AKT3 intronic transcript 1 (non-protein coding) q44 100874263 AL592151;BX503211 ncrna HGNC:41304 735623 AKT3 v-akt murine thymoma viral oncogene homolog 3 The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 1 q44 216939341 217293898 - 243651535 244014381 - 243488233 243851079 - 1580863;2313763;2290458;6480464;6484113;6907045;8699517;7240710;8554872 17641274;18955974 10092583;10208883;10419456;10491192;10773662;10869418;11076863;11156964;11208609;11230166;11322783;11387345;11466625;11489829;11707444;11994280;12162751;12167664;12176997;12477932;12663464;12692267;14637150;14702039;15466193;15489336;15543611;15579468;15616007;15678105;15689238;15698844;15987444;16381901;16524887;16540465;16841089;17157319;17178867;17668379;17895832;18029348;18160256;18300076;18451171;18524868;18813315;18826950;19261608;19435822;19626040;19713527;19913121;19953087;20018949;20031603;20056178;20059950;20102399;20167810;20186503;20354165;20398329;20628086;20647317;20661303;20818790;20980808;21029719;21048031;21139048;21191416;21351097;21423810;21441570;21483469;21487925;21507933;21590431;21606541;21697490;21763505;21765914;21777670;21821713;21890473;22107784;22234583;22262409;22500628;22729223;22729224;22729570;22904195;23077641;23251686;23301033;23303682;23599027;23603119;23604117;23726511;23742646;23746211;23794269;23811558;23929892;23974872;24039187;24156551;24247267;24335962;24462114;8619474;9110174;9305920;9394803;9512493 10000 F8VS91;Q9Y243 ABBA01047209;ABBA01047210;ABBA01047211;ABBA01047212;ABBA01047213;ABBA01047214;ABBA01047215;AC096539;AC225099;AF085234;AF124141;AF135794;AJ245709;AK055109;AK308052;AL117525;AL591721;AL592151;AL662889;AMYH02003066;AMYH02003067;AMYH02003068;AMYH02003069;AMYH02003070;AMYH02003071;AMYH02003072;AMYH02003073;AMYH02003074;AMYH02003075;AW960221;AX056819;AX251592;AY005799;BC019085;BC020479;BC121154;BG702262;CH471148;NG_029764;NM_001206729;NM_005465;NM_181690;U79271;XM_005272994;XM_005272995;XM_005272997;XM_006711725;XM_006711726;XM_006724959;XM_006724960;XM_006724961;XM_006724962;XM_006724963 AAD24196;AAD29089;AAF91073;AAH20479;AAI21155;AAL40392;CAB53537;CAB55977;CAC22382;CAC93797;CAL37669;CAL37727;EAW77093;EAW77094;NP_001193658;NP_005456;NP_859029;Q9Y243;XP_005273051;XP_005273052;XP_005273054;XP_006711788;XP_006711789;XP_006725022;XP_006725023;XP_006725024;XP_006725025;XP_006725026 Hs.498292 1339164;1655940;1659998;1692362;1718447;1724053;1735658;1751487;1757677;1765903;1781576;1795338;1848213;1851672;2110909;2119944;2125377;2144329;2145389;2145980;2154548;2163728;2174486;2176214 AKT3_697;AL009857;AL034042;D1S1902E;D1S1904E;D1S2811;D1S326E;G27428;RH119038;RH122424;RH12417;RH64659;RH70333;SHGC-105310;SHGC-146222;SHGC-148050;SHGC-149315;SHGC-30478;SHGC-60158;SHGC-76607;SHGC-76615;SHGC-76617;SHGC-76619;SHGC-76620 DKFZp434N0250;MPPH;MPPH2;PKB-GAMMA;PKBG;PRKBG;RAC-PK-gamma;RAC-gamma;STK-2 OTTHUMP00000037911;OTTHUMP00000037912;OTTHUMP00000241402;PKB gamma;RAC-gamma serine/threonine protein kinase;RAC-gamma serine/threonine-protein kinase;protein kinase Akt-3;protein kinase B gamma;serine threonine protein kinase, Akt-3;thymoma viral proto-oncogene 3;v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) APPROVED protein-coding ENSG00000117020 HGNC:393 06441 603387;611223;615937 REVIEWED 736545 ALAD aminolevulinate dehydratase The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. [provided by RefSeq, Jul 2008] 9 9 9 q33.1 86796194 86811219 - 116148592 116163618 - 113386312 113401338 - 1599013;1599014;1599011;1601156;1580863;1578396;4144806;4144168;4144137;4144142;4144146;4144542;4144150;4144152;4144202;4144163;6480464;6907045;7240710;8554872;8699517 11335187;16597373;16839620;17204241;17320826;17720948;18778733;19022878;19043199;19484701;19647414;20026167;2222472;6721832 10519994;10706561;11032836;11413692;11427399;11444968;11459423;1156566;11591653;11800328;11860952;11909869;12469218;12477932;12611663;12665801;12878157;12896855;12972060;14527840;14694653;15064157;15164053;15213514;15258767;15381398;15386154;15489334;15587989;1569184;15915653;15954127;1602151;16140629;16203232;16263504;16344560;16377642;16445899;16487505;16497859;16730797;16757504;1678509;17164378;1716854;17291479;17366816;17383846;17649958;17823382;17966070;18271513;18282196;18432999;18569569;18676680;18784554;18795909;18936436;19028776;19170196;19327888;19440429;19515364;19548578;19625176;19686844;19692168;19723536;19766174;19789817;19812033;20021040;20021192;20069172;20123609;20406759;20510440;2063868;20798009;21139048;21293208;21327641;21396434;21439310;21762684;21799727;22101007;22298357;22797925;22851944;22863883;24156693;24500903;24631795;3036687;3092810;3327436;3463993;3758678;6378062;6839527;7450139;8188255 210 B7Z3I9;B7ZBK6;B7ZBK7;B7ZBK8;P13716;Q6ZMU0 AA593706;ABBA01042684;ABBA01042685;AK131490;AK290490;AK295945;AK312552;AL137066;AMYH02021510;AU279870;AY319481;BC000977;BU625796;BX494400;CH471090;DA412142;DA805310;M13928;NG_008716;NM_000031;S99468;S99471;X64467;XM_005251799 AAA51687;AAC60581;AAC60582;AAH00977;AAP72012;BAD18635;BAF83179;BAG35449;BAH12225;CAA45796;EAW87379;EAW87380;NP_000022;P13716;XP_005251856 Hs.1227 1649337;1682461;1741723;1788038;1788040;1788042;1788044;1788046;1788048;2180072;2191293 G67278;G67279;G67280;G67281;G67282;G67283;GDB:182364;MARC_17135-17136:1021046712:3;RH67978;RH71467;STS-X64467 MGC5057;PBGS ALADH;OTTHUMP00000021953;aminolevulinate, delta-, dehydratase;delta-aminolevulinic acid dehydratase;porphobilinogen synthase APPROVED protein-coding ENSG00000148218 HGNC:395 00504 125270;612740 REVIEWED 1322487 AKTIP AKT interacting protein The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 16 16 16 q12.2 38040003 38051981 - 53525192 53538323 - 53491280 53504411 - 6480464 12477932;14702039;14749367;15489334;16169070;16189514;17207965;17353931;18029348;18799622;19270026;19549727;20132317;20635389;20945372;21424602;24250222;8125298;8626685;9383278;9501314 64400 H3BM79;H3BNB8;H3BRT7;H3BRV2;H3BSX7;H3BVH0;Q9H8T0 ABBA01066495;AC007342;AK023320;AK098222;AK222743;AK303503;AL133106;AMYH02032047;AX259368;BC001134;BC095401;BG568989;BI545474;CH471092;CR457308;NM_001012398;NM_022476;XM_005256094;XM_005256095;XM_005256096;XM_005256097;XM_005256098 AAH01134;AAH95401;ADQ32518;BAB14524;BAD96463;BAG64536;CAD10180;CAG33589;CAH56392;EAW82803;EAW82804;EAW82805;EAW82806;EAW82807;EAW82808;EAW82809;NP_001012398;NP_071921;Q9H8T0;XP_005256151;XP_005256152;XP_005256153;XP_005256154;XP_005256155 Hs.380897 1677222;1684522;1796666;2167151;2173690;5015961;5020948;5022322;5037552;5109281 D11S2560;D15S1477;D16S2536E;D1S1425;D8S2279;G35510;RBL2_1295;RH65767;RH75186;RH94082 FT1;FTS AKT-interacting protein;OTTHUMP00000164256;fused toes homolog;fused toes homolog (mouse);fused toes protein homolog APPROVED protein-coding ENSG00000166971 HGNC:16710 07467 608483 REVIEWED 68572 ALAS1 aminolevulinate, delta-, synthase 1 This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 3 3 3 p21.1 52211428 52227655 + 52232099 52248343 + 52198083 52214327 + 1580863;1601233;1300048;1578396;4144542;4144178;4144185;4144834;4145274;4144808;6480464;6484113;6907045 12627002;16125296;16181105;16839620;16846079;6688350;7547054 11267664;11566198;11929042;11929048;12433930;12477932;12878157;15028279;15123725;15477213;15489334;15547665;15710391;15797241;16234850;16730941;16751776;17628775;17672918;18029348;18719978;19460752;19477221;19656447;19913121;20237496;20628086;20877624;2095458;21048031;21659532;21900206;21906983;21926972;21963094;21987572;21988832;22505724;2263504;23024262;2347585;23974872;24250222;3671094;7698013;8424176 211 H7C4H7;H7C5B0;P13196;Q5JAM2 AB063322;ABBA01024511;AC097637;AI868691;AK293190;AK300993;AK312566;AMYH02006798;AU279391;AX399848;AY260745;BC011798;BM546974;BU173391;CD014147;CH471055;NM_000688;NM_199166;X56351;XM_005264944;XM_005264945;Y00451 AAH11798;AAP94018;ADZ15340;BAB93514;BAG35461;BAG56730;BAG62612;CAA39794;CAA68506;CAD33292;EAW65188;EAW65189;EAW65190;NP_000679;NP_954635;P13196;XP_005265001;XP_005265002 Hs.476308 1649007;1734834;1743149;2140833;2186240;5016844 D2S1587E;GDB:273584;RH69932;RH77906;RH93452;SHGC-31564 ALAS;ALAS-H;ALAS3;MIG4 5-aminolevulinate synthase, nonspecific, mitochondrial;5-aminolevulinic acid synthase 1;ALASH;OTTHUMP00000212619;OTTHUMP00000212620;OTTHUMP00000212621;OTTHUMP00000212622;delta-ALA synthase 1;delta-aminolevulinate synthase 1;migration-inducing protein 4 APPROVED protein-coding ENSG00000023330 HGNC:396 00505 125290 VALIDATED 736755 ALAS2 aminolevulinate, delta-, synthase 2 The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X X p11.21 58870631 58892640 - 55035488 55057497 - 55009055 55031064 - 1599037;1599038;1580863;1300048;1578396;4144542;6480464;6907045;7240710;8554872;8699517 16839620;17082564;7949148 10029606;10577279;10727444;12031592;12393718;12477932;12663458;14643893;15166166;15342556;1570328;15772651;1577484;16121195;16234850;16446107;18555711;18569569;18624398;18760763;19066423;19187226;1939222;19731322;2050125;20850938;21207956;21252495;21309041;21653323;21800356;22269113;2263504;22740690;23223129;23263862;23348515;23364466;23409301;2347585;23935018;24166784;546546;8107717;8889548;9642238;9858242 212 H0Y6R3;P22557 AA778169;ABBA01069569;AF068624;AK290565;AK291589;AK313118;AL020991;AMYH02039495;AY190322;AY532069;AY532070;AY532071;AY532072;AY532073;AY532074;AY532075;AY532076;AY532077;AY532078;AY532079;AY532080;AY532081;AY532082;AY532083;AY532084;AY532085;AY532086;AY532087;AY532088;AY532089;AY532091;AY532092;AY532093;AY532094;AY532095;AY532096;AY532097;AY532098;AY532099;AY532100;AY532101;AY532102;AY532103;AY532104;AY532105;AY532106;AY532107;AY532108;AY532109;BC030230;BM677888;BP233279;BP284609;BQ182291;CH471154;NG_008983;NM_000032;NM_001037967;NM_001037968;X56352;X60364;XM_005261995;Z83821 AAC39838;AAH30230;AAO37821;AAT09371;AAT09372;AAT09373;AAT09374;AAT09375;AAT09376;AAT09377;AAT09378;AAT09379;AAT09380;AAT09381;AAT09382;AAT09383;AAT09384;AAT09385;AAT09386;AAT09387;AAT09388;AAT09389;AAT09390;AAT09391;AAT09393;AAT09394;AAT09395;AAT09396;AAT09397;AAT09398;AAT09399;AAT09400;AAT09401;AAT09402;AAT09403;AAT09404;AAT09405;AAT09406;AAT09407;AAT09408;AAT09409;AAT09410;AAT09411;BAF83254;BAF84278;BAG35939;CAA39795;CAA42916;EAW93211;EAW93212;EAW93213;NP_000023;NP_001033056;NP_001033057;P22557;XP_005262052 Hs.522666;Hs.555936 1646995;1646997;1686164;1774363;1778167;2121191;2147381;2182615;2220286;5093720 A009V31;AL023933;ALAS2;G32884;GDB:193183;RH16577;RH94266;SGC33540;WI-12678;WI-16860 ALAS-E;ANH1;ASB;FLJ93603;XLDPP;XLEPP;XLSA 5-aminolevulinate synthase, erythroid-specific, mitochondrial;5-aminolevulinic acid synthase 2;ALASE;OTTHUMP00000023388;OTTHUMP00000023389;OTTHUMP00000204081;aminolevulinic acid synthase 2;delta-ALA synthase 2;delta-ALA synthetase;delta-aminolevulinate synthase 2 APPROVED protein-coding ENSG00000158578 HGNC:397 02356 300751;300752;301300 REVIEWED 735404 ALB albumin Albumin is a soluble, monomeric protein which comprises about one-half of the blood serum protein. Albumin functions primarily as a carrier protein for steroids, fatty acids, and thyroid hormones and plays a role in stabilizing extracellular fluid volume. Albumin is a globular unglycosylated serum protein of molecular weight 65,000. Albumin is synthesized in the liver as preproalbumin which has an N-terminal peptide that is removed before the nascent protein is released from the rough endoplasmic reticulum. The product, proalbumin, is in turn cleaved in the Golgi vesicles to produce the secreted albumin. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 71629770 71646928 + 74269972 74287129 + 73404255 73421412 + 1599027;1599028;734959;1599033;1580863;1601159;1601157;1601160;1601158;2306884;2306882;2306885;2306886;2325678;2325680;2325679;2325683;2325675;2325682;2325676;2325677;2325686;6480464;5135032;6483494;6484113;6483512;7240710;8551793;8554872 10776430;15102963;16753933;1690892;17545000;18154768;19011933;19246226;19397971;19414946;19424163;20193666;20358256;20431764;20508721;21441310;22592748;22607558;23261756;6468510;7937781;8048949;8664482;8677191;908508 10086322;10388840;10580404;10780709;10811843;10940303;11140838;11145723;11158855;11159893;11168369;11483580;11680902;11689002;11734007;11743520;11743713;11781148;11810025;11847277;11906609;11931649;12007569;12009306;12118010;1225573;12477932;12480711;12566415;12601813;12617161;12665801;12732844;12815038;12969171;12970360;12975309;1347703;13677478;1390939;14520007;14579113;14687905;14718574;14726550;14759223;14983239;15137089;15149953;15174051;1518850;15210122;15324660;15353599;15489334;15502818;15604093;15616580;15646839;15716124;15740590;15832324;15837789;15890566;15913893;15942949;15952740;15996651;1602151;16037246;16054887;16099937;16153637;16156788;16159939;16169013;16169070;16201370;16213467;16245148;16253963;16283771;16289007;1630489;16307046;16324740;16329499;16337614;16344560;16394536;16405401;16413734;16413740;16413837;16454580;16608438;16703327;16705651;16721655;16843720;16892178;16916777;16939204;16979183;17002873;17048273;17048876;17054386;17058928;17064838;17067818;17109502;17184834;17200780;17301560;17347578;17438360;17460892;17467280;17499233;17575979;17587712;17603933;17940721;17987802;18028874;18029235;18054940;18068661;1810199;18178096;18192916;1819460;18200582;18200583;18256067;18287254;18323672;18337751;18346470;18386863;18459107;18464274;18474236;18513410;18579803;1859851;18791744;18958405;18979581;19011736;19056867;19139584;19212124;19298387;19318029;19339807;19375269;19377253;19404566;19450464;1946412;19484197;19505594;19520864;19572666;19588173;19601929;19615354;19615732;19664386;19707690;19711930;19733855;19734142;19785033;19883602;19884191;19955769;19996109;20006594;20018394;20018855;20025859;20160662;20171595;20211614;20215742;20306030;20346571;20381621;20471030;20473970;20603593;2068071;20692819;20705604;20716240;20818804;20828817;20835227;2104980;21139048;21190025;21190670;21193536;21228463;21271345;21326965;21357544;21439346;21456469;21488149;21494773;21521316;21539799;21565611;21635915;21832049;21843484;21890473;21900206;21950461;21997768;22079093;22120732;22209935;22244477;22286219;22306656;22351593;22437883;22440250;22450170;2247440;22513409;22549788;22613267;22630368;22642562;22658569;22675238;22685563;22718756;22797925;22815976;22832880;22870899;22878801;22905377;22968245;22982313;23099538;23103397;23104623;23176518;23182422;23215783;23285146;23351092;23360066;2339130;23398456;23473402;23531836;23535732;23538348;23592780;23673386;23711095;23724004;23732484;2374930;23840401;23862649;23886889;23888317;23891063;23904329;23958299;24038622;2404284;24076337;24096130;24146932;2419329;24244333;24280624;24319355;2437111;24416244;24449167;24477648;24485317;2460858;24627724;24646103;24652290;24744315;24769178;24798807;24816145;25051913;2564675;2727704;2762316;2792379;2898383;2901102;2911589;2914956;3009475;3081519;3087352;325004;3353369;3474609;3479777;3759977;3795040;3828358;4027254;4062880;571335;6171778;6173750;6192711;6275391;6292049;6324579;6457647;656055;683332;6864486;6933567;7297678;7557095;7576927;7578225;7852505;7882997;7895732;7902134;8022807;8063017;8064810;8132774;8134387;8312056;8347685;8513793;8605586;8889549;8898021;9168236;9183005;9329347;955075;9589637;9618718;9731778 213 B7WNR0;C9JKR2;D6RCE7;D6RHD5;H0YA55;H7C013;P02768 A06977;ABBA01022989;ABBA01022990;AC108157;AF190168;AF542069;AK292755;AK298437;AK298461;AK308044;AK314794;AMYH02009464;AY358313;AY544124;AY550967;AY728024;AY960291;BC014308;BC034023;BC034026;BC035969;BC036003;BC039235;BC041789;BJ993972;CH471057;CR749331;CS339763;DA536463;DA642320;DQ986150;EF649953;GM662929;GN367252;HC484161;HQ537426;M12523;N53869;NG_009291;NM_000477;S69192;S70799;V00494;V00495;X51363;X51364;X51365 AAA98797;AAA98798;AAB30282;AAB31177;AAF01333;AAH14308;AAH34023;AAH35969;AAH36003;AAH41789;AAN17825;AAQ89947;AAT11155;AAT52213;AAU21642;AAX63425;ABJ16448;ABM82340;ABM85514;ABS29264;AEE60908;BAF85444;BAG37325;BAG60658;BAG60674;CAA00606;CAA23753;CAA23754;CAA35747;CAA35748;CAA35749;CAH18185;CAL14739;CAV33840;CAY85984;CBL66721;EAX05659;EAX05660;EAX05661;EAX05662;EAX05663;EAX05664;EAX05665;EAX05666;EAX05667;EAX05668;EAX05669;EAX05670;EAX05671;EAX05672;EAX05673;EAX05674;EAX05675;EAX05676;EAX05677;EAX05678;NP_000468;P02768 Hs.418167;Hs.592379 1655096;1675098;1741147;1741149;1741217;1743467;1743469;1743471;1743473;1743475;1743477;1743479;1743481;1743483;1743485;1743487;1743489;1743491;1743493;1791534;1791976;1794962;1795022;1795024;1849168;1856189;1857502 D4S2818;G34388;G34389;GDB:178382;GDB:178383;GDB:178648;GDB:340866;GDB:340869;GDB:340872;GDB:340875;GDB:340878;GDB:340881;GDB:340884;GDB:340887;GDB:340891;GDB:340894;GDB:340897;GDB:340900;GDB:340903;GDB:340906;PMC114008P1;PMC134004P1;PMC86453P1;PMC87818P1;PMC87818P2;RH11066;SHGC-59619 ANALBA;DKFZp779N1935;FDAH;PRO0883;PRO0903;PRO1341 OTTHUMP00000160370;OTTHUMP00000196832;OTTHUMP00000220435;OTTHUMP00000220436;OTTHUMP00000220438;OTTHUMP00000220439;albumin (32 AA);albumin (AA 34);cell growth inhibiting protein 42;growth-inhibiting protein 20;serum albumin APPROVED protein-coding ENSG00000163631 HGNC:399 00062 103600;615999;616000 REVIEWED 733283 ALCAM activated leukocyte cell adhesion molecule This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011] 3 3 3 q13.1 103484109 103694111 + 105085557 105295757 + 105366713 105576913 + 1580863;734960;6480464 631856 10673383;11306570;12477932;12481253;12754519;12843199;14702039;15140234;15169840;15496415;16024937;16204050;16335952;16344560;16650408;16712791;16799092;16818742;16818773;16865058;17624664;17971418;18157132;18171982;18172759;18202807;18279810;18347173;18483249;18810438;19056867;19142865;19322904;19337990;19603023;19626493;19913121;20180536;20208136;20220571;20364042;20530423;20606680;20628086;20726988;20826154;20929568;20952758;20972617;21119604;21126364;21139048;21293922;21364949;21430457;21440089;21670959;21683980;21757661;21816001;21816425;21858815;21906983;21915031;21935604;21988832;22082156;22130902;22166264;22304788;22482754;22555284;22704111;22722789;22745698;22745734;22880034;23000965;23052204;23148625;23169448;23169771;23507476;23539446;23840677;23903875;23922698;23940674;24044434;24385212;24482231;24529757;24662291;24710410;24816145;7543097;7760007;8520490;8823162;9436462;9502422;9920831 214 B3KNN9;F5GXJ9;H7C543;Q13740 AB074167;ABBA01061728;ABBA01061729;ABBA01061730;ABBA01061731;ABBA01061732;AC023602;AC078806;AC133476;AK054632;AK095833;AK127617;AK300362;AK301804;AK316113;AL833702;AMYH02007361;AMYH02007362;AMYH02007363;AMYH02007364;AY644765;BC029639;BC041127;BC057809;BC137096;BC137097;CA430528;CB145726;CH471052;DA318514;DB541501;DQ486139;DQ486140;KF457664;L38608;NG_029729;NM_001243280;NM_001243281;NM_001243283;NM_001627;Y10183 AAB59499;AAH57809;AAI37097;AAI37098;AAV28819;ABF48405;ABF48406;BAC87059;BAG51401;BAG62102;BAG63255;BAH14484;CAA71256;EAW79755;EAW79756;EAW79757;NP_001230209;NP_001230210;NP_001230212;NP_001618;Q13740 Hs.591293;Hs.740441 1674587;1705434;1721411;1752463;1754021;1795340;2114711;2117471;2126887;2159053;2159835 ALCAM_699;D3S4183;G59557;RH46353;SGC38382;SHGC-106342;SHGC-132061;SHGC-35488;SHGC-83798;STS-W51882;WIAF-1714 CD166;FLJ38514;MEMD;MGC71733 CD166 antigen;OTTHUMP00000214313;OTTHUMP00000214314;OTTHUMP00000214315;activated leucocyte cell adhesion molecule APPROVED protein-coding ENSG00000170017 HGNC:400 03389 601662 REVIEWED 1350465 ALDH16A1 aldehyde dehydrogenase 16 family, member A1 This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 19 19 19 q13.33 46823977 46843666 + 49956473 49974305 + 49453216 49471048 + 1580863;6480464;8554872 12477932;14702039;16344560;16751776;17353931;19184135;19615732;19946888;21139048;21890473;21906983;21963094;21987572;22505724;22863883;23348497;24147044;24250222;24654937;8619474;9110174 126133 F5H4B6;M0QY06;M0QYY1;Q8IZ83 ABBA01032926;ABBA01032927;ABBA01032928;AC010619;AK024182;AK074136;AK297101;AK298587;AK301246;AMYH02036317;AY007096;BC014895;BC035641;BC042142;CH471177;DA629821;DC364604;NG_012747;NM_001145396;NM_153329 AAH14895;AAH35641;AAH42142;BAB84962;BAG59613;BAG60777;BAG62813;EAW52482;EAW52483;EAW52484;NP_001138868;NP_699160;Q8IZ83 Hs.719998 5015961;5016700;5023137;5024035;5037552;5109281;5117897 27268et;D13S116;D15S1477;D1S1425;D8S2279;GDB:631813;RH79802 MGC10204 aldehyde dehydrogenase family 16 member A1 APPROVED protein-coding ENSG00000161618 HGNC:28114 14394 613358 REVIEWED 1350073 ALDH18A1 aldehyde dehydrogenase 18 family, member A1 This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q24.3 91106883 91157764 - 97365686 97416759 - 95605929 95656810 - 1580863;6480464;6907045;7240710;8554872 10037775;11092761;12477932;15164054;15489334;15517380;15576338;16385451;17000644;17314511;18029348;18401542;18478038;18781797;19615732;20186120;20360068;20379614;20819778;20877624;20946940;21081666;21139048;21145461;21319273;21739576;21890473;21906983;21987572;22354994;22505724;22586326;22939629;23125841;23383273;23798571;24255178;24583282;24816145;25027693;8125298;8761662;8921385 5832 P54886 ABBA01021834;AK126355;AK225455;AK225465;AK226032;AK295487;AK299557;AK312271;AL356632;AMYH02023582;AW467503;BC106054;BC117240;BC117242;BC143930;BU170321;CD642171;CH471066;NG_012258;NM_001017423;NM_002860;U68758;U76542;X94453;XM_006717933 AAD00169;AAD17454;AAI06055;AAI17241;AAI17243;AAI43931;ADR83253;BAG35201;BAH12086;BAH13064;CAA64224;EAW49994;EAW49995;EAW49996;EAW49997;NP_001017423;NP_002851;P54886;XP_006717996 Hs.500645 1856285;2109715;5022578;5037552;5494092 D10S2402;D1S1423;D8S2279;PYCS__6971;fc35a07.x1 ARCL3A;GSAS;MGC117316;P5CS;PYCS OTTHUMP00000020159;OTTHUMP00000020160;aldehyde dehydrogenase family 18 member A1;delta-1-pyrroline-5-carboxylate synthase;delta-1-pyrroline-5-carboxylate synthetase;delta1-pyrroline-5-carboxlate synthetase;pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) APPROVED protein-coding ENSG00000059573 HGNC:9722 00696 138250;219150 REVIEWED 736747 ALDH1A1 aldehyde dehydrogenase 1 family, member A1 The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011] 9 9 9 q21.13 46088447 46140830 - 75515578 75653633 - 72900662 72953317 - 1580863;1300048;2325688;6480464;6484672;6771354;6907045;8699517 19216797;21138835;21621639 12081471;12174908;12477932;14506398;14678778;15489334;15597079;15852347;16189514;16857736;16878979;1709013;17175089;17222227;17286337;17502835;17628022;18029348;18082256;18331377;18343808;18371393;18450747;18496131;18644979;18848913;18854779;19018242;19025616;19056867;19129088;19296407;19329942;19343046;19385968;19447584;19450560;19478994;19696793;19703508;19706361;19774675;19808966;19874574;19911270;20010854;20019840;20142235;20228222;20379614;20422001;20516116;20585849;20596639;20606680;20634891;20889728;20959018;20959469;21045151;21098716;21118965;21231983;21282737;21336637;21371077;21399615;21441790;21482329;21695188;21708005;21804471;21827011;21907803;21988832;22005464;22012766;22014057;22080062;22098156;22101256;22115706;22123295;22131125;22195027;22260461;22380773;22407396;22417385;22430847;224930;22544210;22581680;22591209;22608744;22617249;22649953;22710732;22725270;22782852;22877687;22878609;22887839;22899292;22928012;22930220;22938492;23005595;23084350;23112116;23132408;23220285;23236537;23252868;23267077;23295229;23332924;23383108;23434145;23438482;23454351;23465277;23483187;23585015;23707659;23759596;23762304;23787917;23799031;23805041;23845466;23916993;23969936;24008128;24043631;24080087;24120944;24210755;24266898;24285422;24289252;24327017;24422956;24464599;24485040;24511023;24519209;24596390;24654937;24770634;24786601;24865427;2591967;2776714;2987944;3013004;3397064;3676276;4015823;6427007;6723659;730161;8214422;8493914;9166904;9240474;9723161 216 P00352;Q5SYQ7;Q5SYQ8;Q5SYQ9;V9HW83 AB209821;ABBA01033867;AF003341;AI074764;AK000118;AK026641;AK293176;AK302168;AL591031;AMYH02020984;AY338497;AY390731;BC001505;BG773210;BT006921;CH471089;DC398835;EU668318;EU794589;FJ224286;HC025826;K03000;M26761;M31994;NG_012249;NM_000689;S61235 AAA35518;AAA51692;AAA51695;AAC51652;AAD13925;AAH01505;AAP35567;AAP88039;AAR92229;ABM81595;ABM84776;ACF94471;ACI45978;ACJ13643;BAD93058;BAG56719;BAG63535;CBH19844;EAW62543;EAW62544;NP_000680;P00352 Hs.76392 1695836;1797272;1858146;2142530 ALDH1A1__2601;HUM00D1B06;RH12740;SHGC-78774 ALDC;ALDH-E1;ALDH1;ALDH11;HEL-9;HEL-S-53e;HEL12;MGC2318;PUMB1;RALDH1 ALDH class 1;ALHDII;OTTHUMP00000021482;RALDH 1;acetaldehyde dehydrogenase 1;aldehyde dehydrogenase 1, soluble;aldehyde dehydrogenase family 1 member A1;aldehyde dehydrogenase family 1, member a1;aldehyde dehydrogenase, cytosolic;aldehyde dehydrogenase, liver cytosolic;epididymis luminal protein 12;epididymis luminal protein 9;epididymis secretory sperm binding protein Li 53e;retinal dehydrogenase 1;retinaldehyde dehydrogenase 1 APPROVED protein-coding ENSG00000165092 HGNC:402 00001 100640 REVIEWED 734163 ALDH1A2 aldehyde dehydrogenase 1 family, member A2 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011] 15 15 15 q21.3 35135291 35247470 - 58245622 58358121 - 57953424 58065923 - 734550;1580863;734961;734962;1576367;1300048;6480464;6771322;6484672;6771354;6907045;8554872 12547725;12563036;12702665;15950969;21138835;21621639;7426208 10192400;11953746;12477932;14702039;14718574;15489334;16166285;16237707;16368932;17266347;18029348;18495959;19343046;19478994;19609347;19703508;19886994;20308937;20375987;20379614;20450613;21139048;21890473;22505724;22930583;23507523;23833249;24121790;24524833;24728293;24816145;8663198;8797830;9819382 8854 E9PF31;H0YKL3;H0YMG7;H0YMT5;O94788;Q9UED3 AA447978;AB015226;AB015227;AB015228;AB015229;ABBA01038986;ABBA01038987;AC012653;AC025431;AK128709;AK294981;AK303057;AL110274;AL110299;AL137418;AMYH02030522;BC030589;BI459110;BX443600;CH471082;DB458699;DQ322171;NG_012259;NM_001206897;NM_003888;NM_170696;NM_170697 AAH30589;ABC40749;ABM82494;ABM85686;BAA34785;BAA34786;BAA34787;BAA34788;BAG54714;BAG58050;BAG64174;CAB53740;EAW77528;EAW77529;EAW77530;NP_001193826;NP_003879;NP_733797;NP_733798;O94788 Hs.643455 1707188;1718725;1769763;1852810;2217002 ALDH1A2_1803;G17842;RH123050;SHGC-79179;STS-AA036780 MGC26444;RALDH(II);RALDH2;RALDH2-T OTTHUMP00000163462;OTTHUMP00000163463;RALDH 2;aldehyde dehydrogenase family 1 member A2;aldehyde dehydrogenase family 1, subfamily a2;retinal dehydrogenase 2;retinaldehyde-specific dehydrogenase type 2 APPROVED protein-coding ENSG00000128918 HGNC:15472 04733 603687 REVIEWED 1353558 ALDH1A3 aldehyde dehydrogenase 1 family, member A3 This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 15 15 15 q26.3 77832935 77870170 + 101419897 101456831 + 100879804 100916626 + 1580863;6480464;6771354;6771322;6484672;6907045;8699517;7240710;8554872 15950969;21138835;21621639 11585737;12040753;12477932;14702039;15245423;15489334;19322201;19343046;19478994;19703508;20709019;20833146;20967262;21280157;21906983;21963094;22131125;22960273;23250514;23312594;23436614;23591992;23646827;23650391;23881059;24024553;24047698;24053169;24167362;24568872;24777706;24907115;25027693;7698756;9490025 220 H0Y2X5;H0YKF9;H0YLT1;H0YNQ3;P47895 ABBA01020531;ABBA01020532;AC015712;AK056534;AK302607;AK303441;AK312303;AL110109;AMYH02031165;AMYH02031166;BC009245;BC069274;BC101605;BC117365;BX538027;CH471101;DB480234;HG507539;HG507540;HG507541;NG_012254;NM_000693;NM_001293815;U07919;XR_109231;XR_111558;XR_172102;XR_243247;XR_248182;XR_253467 AAA79036;AAH69274;AAI01606;AAI17366;ACE86700;ACE87384;BAG35229;BAG63855;BAG64488;CAD97973;EAX02281;EAX02282;EAX02283;NP_000684;NP_001280744;P47895 Hs.459538;Hs.612155 1783242;1795342;1852432;2122708;2147607 ALDH1A3_289;D15S1345;RH48812;RH66397;SHGC-154796 ALDH1A6;ALDH6;MCOP8;RALDH3 OTTHUMP00000194835;RALDH-3;acetaldehyde dehydrogenase 6;aldehyde dehydrogenase 6;aldehyde dehydrogenase family 1 member A3;retinaldehyde dehydrogenase 3 APPROVED protein-coding ENSG00000184254 HGNC:409 02713 600463;615113 REVIEWED 1606025 ALDH1L1 aldehyde dehydrogenase 1 family, member L1 The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 3 3 3 q21.3 124246087 124323172 - 125822404 125900029 - 126103561 126181186 - 6480464;6907045;7242562;8554872 22353665 10204077;12065246;12477932;12805405;17111379;17119116;17548676;17891500;18676680;18830263;18848533;19018242;19048631;19056867;19064578;19161160;19170196;19343046;19447584;19625176;19692168;19851296;19913121;19935739;19936946;20198315;20453000;20628086;20634891;20729910;20737570;20877624;21046559;21215736;21238436;21540484;21779486;21987076;22039442;22491060;22593801;23378610;24324551;25114248;2733692;7972060;8125298 10840 B4DGC8;C9IZ36;C9JY00;C9JYZ6;D6RFJ7;F2Z324;F8WC34;O75891;Q53H87;Q8TBP8 AA639766;AB209299;ABBA01016395;AC079848;AF052732;AK124908;AK222535;AK222694;AK294392;AK294530;AK307699;AK308112;AL133015;AMYH02007580;BC027241;BC045645;BI829048;CH471052;CR749807;DC342268;KM111188;NG_012260;NM_001270364;NM_001270365;NM_012190;NR_072979;XM_006713481;XM_006713482 AAC35000;AAH27241;ACE86814;ACE86815;ACE87501;ACE87502;ADZ15394;AIL83748;BAC85992;BAD92536;BAD96255;BAD96414;BAG57647;BAG57739;CAB61356;CAH18667;EAW79370;EAW79371;EAW79372;NP_001257293;NP_001257294;NP_036322;O75891;XP_006713544;XP_006713545 Hs.434435 1696462;1708490;2156088;5015619;5015961;5037552 D11S3114;D15S1477;D8S2279;G06984;SHGC-79487;SHGC-79784 10-FTHFDH;10-fTHF;DKFZp781N0997;FDH;FTHFD 10-formyltetrahydrofolate dehydrogenase;MER57B-ALDH1L1;OTTHUMP00000155221;OTTHUMP00000214696;OTTHUMP00000214700;OTTHUMP00000222724;aldehyde dehydrogenase family 1 member L1;cytosolic 10-formyltetrahydrofolate dehydrogenase;formyltetrahydrofolate dehydrogenase APPROVED protein-coding ENSG00000144908 HGNC:3978 02594 600249 REVIEWED 1315525 ALDH1B1 aldehyde dehydrogenase 1 family, member B1 This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008] 9 9 9 p11.1 38325642 38331598 + 38392661 38398662 + 38392664 38398665 + 1580863;6480464;6907045;8554872 12477932;1306115;15164053;15231747;15489334;16196087;16344560;17314511;17471563;17628022;18029348;18782342;19343046;19738201;20205700;2061311;20700531;20734064;20877624;20955166;21139048;21145461;21216231;21890473;21988832;22268729;22863883;22939629;22990118;23247008;23454351;23667679;24816145;7774944;7779080;8125298;8244338;8689400 219 B4DLJ0;P30837 ABBA01050381;AI803741;AK225950;AK297020;AK313344;AL135785;AMYH02019510;BC001619;BE889810;BT007418;CH471071;DA599259;DB256700;M63967;NG_012253;NM_000692 AAA96830;AAH01619;AAP36086;ABM81675;ABW03290;BAG36147;BAG59552;EAW58252;NP_000683;P30837 Hs.436219;Hs.743532 1743169;1743173;1743175;1795344;1850838;2140030;2171303;5118576 ALDH1B1_1553;D11S3430;GDB:280628;GDB:280630;GDB:280632;SGC35531;STS-M63967;STS-R93551 ALDH5;ALDHX;MGC2230 ALDH class 2;OTTHUMP00000021399;acetaldehyde dehydrogenase 5;aldehyde dehydrogenase 5;aldehyde dehydrogenase X, mitochondrial;aldehyde dehydrogenase family 1 member B1;mitochondrial aldehyde dehydrogenase X APPROVED protein-coding ENSG00000137124 HGNC:407 00005 100670 REVIEWED 5688412 ALDH1L1-AS2 ALDH1L1 antisense RNA 2 3 3 q21.3 125898908 125929012 + 126180065 126210169 + 14702039;16344560;23378610;24324551 100862662 ABBA01016394;ABBA01016395;AC079848;AK097508;AMYH02007580;BC039521;DA256650;DA566603;NR_046383 Hs.633362 FLJ40189 APPROVED ncrna ENSG00000246022 HGNC:42446 VALIDATED 6481157 ALDH1L1-AS1 ALDH1L1 antisense RNA 1 3 3 125822483 125827139 + 126103640 126108069 + 100874204 ABBA01016395;AC079848;AMYH02007580;HG496022;NR_046602 Hs.742339 RP11-124N2.2 APPROVED ncrna ENSG00000250218 HGNC:40244 PREDICTED 69220 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011] 12 12 12 q24.2 111829810 111873247 + 112204691 112247789 + 111766887 111809985 + 734551;1599041;1599042;1331525;1300048;1601161;1601162;1601164;1601163;1580863;2311152;2325694;2325313;2311149;2311150;2311151;6480464;6907045;7240710;7241588;7241590;7241599;7241603;7241598;7241592;8554872;8699517 10780266;11510748;12452318;12484509;12706323;15118671;15126281;15318096;15563966;15714130;16408483;17058263;17388993;18787169;19068087;20957334;21138988;21166048;22022451;23468836 10631996;11051375;11115843;11117576;11210104;11238183;11375898;11410735;11410744;11468345;11520401;11584144;11600186;11692094;11696658;11744614;11748356;11767261;11798074;11925062;11966948;12010862;12033531;12080432;12082496;12089173;12119207;12164325;12168074;12170102;12173598;12189549;12198368;12198369;12211622;12213289;12223435;12351924;12376487;12387818;12419833;12477932;12492137;12505800;12517056;12519453;12545748;12554615;12563175;12705718;12706324;12718576;12718671;12739102;12759156;12759747;12766630;12777946;12795606;12798968;12806963;12824748;12884000;12915514;12915519;12940444;1306115;14506399;14506613;14568296;14597338;14634838;14636437;14652286;14691372;14693654;14742656;14768474;15008789;15084894;15122947;15123334;15167446;15182962;15220553;15242332;15279067;15318097;15318112;15327835;15377279;15489334;15511718;15519646;15542751;15569633;15654505;15679538;15703303;15734972;15780035;15840430;15842823;15863807;15902904;15957669;15957670;15983043;15991278;16006997;16046871;16078602;16082583;16103445;16108833;16125912;16126235;16127737;16135443;16163053;16169070;16187278;16235983;16250071;16309369;16324524;16332725;16351505;16365683;16385179;16404797;16440063;16440362;16499490;16520888;16565959;16600530;16608143;16624836;16639733;16679343;16679777;16685648;16702384;16734278;16758956;16759795;16782756;16788276;16792555;16822169;16847426;16958672;17033202;17036331;17040107;17071628;17134659;17138329;17196743;17207821;17285601;17292341;17384900;17454860;17459359;17471563;17489985;17517051;17543846;17559142;17631643;17632320;17659824;17785925;17850643;17854793;17885622;17948892;17952709;17963305;17984618;18033686;18056758;18078815;18201725;18215653;18216179;18254707;18258609;18272654;18299763;18302046;18317873;18318597;18322963;18331377;18336671;18429959;18439068;18450747;18510611;18516948;18540919;18616675;18621017;18665932;18676680;18715275;18724972;18763293;18772068;18773092;18776700;18782342;18786921;18787502;18798003;18974607;18996923;19056867;19064571;19096130;19115622;19124505;19144977;19164089;19170196;19182438;19185835;19230487;19250143;19251454;19261511;19262484;19286920;19298323;19298328;19302089;19332462;19336370;19339270;19343046;19393179;19403456;19449376;19452585;19456322;19469618;19486361;19506075;19584771;19618839;19625176;19637400;19641380;19655364;19667493;19692168;19698717;19706845;19751749;19769429;19799139;19819294;19826048;19860798;19861527;19874574;19876063;19906643;19911129;19913121;19914339;19948975;20005475;20010786;20025435;20042735;20062057;20077761;20093384;20100738;20101753;20139978;20180013;20180859;20186120;20205700;20364586;20381070;20403997;20417517;20437850;20467232;20477767;20477771;20488846;20518787;20521872;20541757;20562859;20577142;20590827;20598484;20628086;20632450;20652463;20685249;20700531;20731752;20806441;20833657;20877124;20877624;21039630;21070510;21085683;21114754;21133627;21139048;21145461;21157980;21252222;21270382;21309949;21321583;21355870;21372407;21437268;21476199;21507992;21515512;21536753;21572416;21576033;21601984;21664374;21672255;21723677;21820149;21832049;21848961;21861333;21906983;21917409;21946912;21958412;21971053;21988832;22004425;22102315;22144473;22155604;22155639;22171074;22180476;22231434;22279680;22286173;22287615;22292652;22302076;22455355;22507973;22508505;22551939;22563891;22564712;22591209;22703580;22708399;22797727;22839215;22870576;22879089;22909898;22930414;22931071;22954124;22960999;22988236;23041239;23106910;23111423;23149980;23238616;23247008;23266708;23295226;23296215;23303836;23323620;23354068;23364009;23364394;23447675;23454351;23455379;23525499;23550892;23609397;23615284;23667679;23685282;23685324;23697560;23909789;23969552;23986996;24028448;24037726;24058561;24262192;24277619;24292747;24333098;24334570;24382882;24690209;24734329;2562960;2838413;2987944;3017845;3562250;3582651;3610592;3653404;4015823;4065146;6582480;7593603;8125298;8290656;8561277;8889548;8903321;9195888;9309300;9765594 217 F8VSB0;P05091;S4R3S4 ABBA01019906;ABBA01019907;ABBA01019908;ABBA01019909;ABBA01019910;ABBA01019911;AC002996;AC003029;AF164120;AK223373;AK301375;AK314856;AMYH02027212;AY621070;BC002967;BC071839;CB851683;CH471054;CR456991;DC353712;HC250939;HC311128;K03001;M20444;M20456;M26760;M54931;NG_012250;NM_000690;NM_001204889;X05409;Y00109 AAA51693;AAA51694;AAA62825;AAB59500;AAD48447;AAH02967;AAH71839;AAT41621;ADZ15477;BAD97093;BAG62916;CAA28990;CAA68290;CAG33272;CBJ05767;CBJ21219;EAW97973;EAW97974;EAW97975;EAW97976;NP_000681;NP_001191818;P05091 Hs.604551 1691500;1694934;1710046;1741241;1745755;2147702;2217004 119668;ALDH2_2950;D12S1884;G44358;GDB:179565;GDB:636036;SHGC-82299 ALDH-E2;ALDM;MGC1806 ALDH class 2;ALDHI;OTTHUMP00000241661;OTTHUMP00000241662;OTTHUMP00000241663;OTTHUMP00000241665;acetaldehyde dehydrogenase 2;aldehyde dehydrogenase 2;aldehyde dehydrogenase, mitochondrial;liver mitochondrial ALDH;nucleus-encoded mitochondrial aldehyde dehydrogenase 2 APPROVED protein-coding ENSG00000111275 HGNC:404 00003 100650;610251 REVIEWED 1345617 ALDH1L2 aldehyde dehydrogenase 1 family, member L2 This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010] 12 12 12 q23.3 105078239 105142624 - 105413562 105478341 - 105019784 105084563 - 1580863;6480464;6907045;8554872 12477932;14702039;18029348;19933275;20186120;20379614;20498374;20877624;21238436;21789175;22082156;23382691 160428 B4DTU7;H0YHN9;Q3SY69 ABBA01053187;ABBA01053188;ABBA01053189;AC016257;AC090051;AF086109;AK094088;AK095827;AK300373;AMYH02027106;AMYH02027107;AMYH02027108;AMYH02027109;BC103934;BC103935;BX537599;CA418450;CR627287;CR749561;HQ292168;NG_012748;NM_001034173;NR_027752 AAI03935;AAI03936;ACE87788;ACT64437;BAC04634;BAG62109;CAH10368;CAH18358;NP_001029345;Q3SY69 Hs.42572 1338335;1682135;1690992;1721227;1746935;2156455;2163433;2187797;5020948;5094334 D1S1151;G35510;G54718;G59457;G64838;G69481;RH68920;RH77954;RH79585;RH92214 DKFZp686A16126;DKFZp686M064;DKFZp686P14145;FLJ36769;FLJ38508;MGC119536;MGC119537;mtFDH 10-formyltetrahydrofolate dehydrogenase ALDH1L2;OTTHUMP00000242225;aldehyde dehydrogenase family 1 member L2;aldehyde dehydrogenase family 1 member L2, mitochondrial;mitochondrial 10-FTHFDH;mitochondrial 10-formyltetrahydrofolate dehydrogenase;probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2 APPROVED protein-coding ENSG00000136010 HGNC:26777 18742 613584 REVIEWED 733180 ALDH3A1 aldehyde dehydrogenase 3 family, member A1 Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008] 17 17 17 p11.2 17054645 17065094 - 19641297 19651746 - 19737984 19748433 - 1300048;1580863;2300309;6480464;6907045 3949078 10780262;11256614;12081471;12367788;12477932;12706498;12943535;1306115;14702039;14745454;15489334;15905174;16344560;1737758;18496131;18536178;18621017;18854779;19025616;1905102;19058789;19343046;19360691;19696793;19894643;20056567;20102361;20237496;2037078;20379614;21044950;21203538;21229876;21251908;21988832;22406320;24276407;24550385;24762960;4073832;7228061;7625577;7774944;8125298;8493892;8889548;9027499;9250352;9514081;9855707 218 A8MYB8;C9JKT2;C9JMC5;E9PNN6;I3L1H6;I3L3I9;I3L3W9;I3L4E5;P30838;Q6PKA6 ABBA01054596;AC005722;AK091272;AK093755;AK093877;AK225505;AK225513;AK292193;AK314584;AMYH02033170;BC004102;BC004370;BC008892;BC021194;BM979497;BT007102;CH471212;CV575863;DA427150;DA445491;M74542;M77477;NG_012251;NM_000691;NM_001135167;NM_001135168;S61044;XM_005256522;XM_005256523;XM_005256524;XM_005256525;XM_006721473 AAA51696;AAB26658;AAB46377;AAH04102;AAH04370;AAH08892;AAH21194;AAP35766;ABM83914;BAC04239;BAF84882;BAG37160;BAG52758;EAW50908;EAW50909;NP_000682;NP_001128639;NP_001128640;P30838;XP_005256579;XP_005256580;XP_005256581;XP_005256582;XP_006721536 Hs.531682 2152655;2158146;5037552;5109281 D1S1425;D8S2279;RH11444;WI-9090 ALDH3;ALDHIII;MGC10406 OTTHUMP00000065794;OTTHUMP00000065795;OTTHUMP00000065796;OTTHUMP00000065797;aldehyde dehydrogenase isozyme 3;aldehyde dehydrogenase type III;aldehyde dehydrogenase, dimeric NADP-preferring;stomach aldehyde dehydrogenase APPROVED protein-coding ENSG00000108602 HGNC:405 00004 100660 REVIEWED 737085 ALDH3A2 aldehyde dehydrogenase 3 family, member A2 Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16965422 16994253 + 19552064 19580908 + 19648751 19677595 + 1300048;1580863;6480464;6907045;7240710;8554872;8699517 10577908;10792573;11408337;12477932;14702039;15110319;15241804;15489334;15931689;16794583;16996289;17342744;17510064;17902024;17971613;17998529;18035827;18519826;18781797;19343046;19615732;20237496;20305087;20360068;20677014;20877624;20883264;21139048;21145461;21524986;21684788;21872273;21890473;21906983;21963094;22397046;22412018;22633490;22678362;22797925;23034980;23956138;24255178;24501781;24654937;7485163;7894487;8528251;9027499;9070922;9133646;9204959;9254849;9467812;9829906 224 C9JGJ2;I3L0X1;I3L1M4;I3L2W1;I3L4G6;J3KTD9;J3KTG1;J3QKK9;J3QQV9;J3QRD1;J3QS00;K7EN73;P51648 AB208894;ABBA01054599;AC005722;AC115989;AK000858;AK025677;AK123877;AK292381;AK315096;AMYH02033169;BC002430;BG699030;CH471212;CR457422;CR749559;L47162;NG_007095;NM_000382;NM_001031806;U46689;U75286;U75295;U75296 AAB01003;AAC50965;AAC50966;AAC51121;AAH02430;ABM86806;ABW03828;BAD92131;BAF85070;BAG37560;CAG33703;CAH18356;EAW50898;EAW50899;EAW50900;NP_000373;NP_001026976;P51648 Hs.499886 1644778;1660408;1662966;1689833;1772869 AFMa126yd5;RH64993;RH66582;RH75646;SGC31627 ALDH10;DKFZp686E23276;FALDH;FLJ20851;SLS OTTHUMP00000065799;OTTHUMP00000065800;OTTHUMP00000065801;aldehyde dehydrogenase 10;aldehyde dehydrogenase family 3 member A2;aldehyde dehydrogenase family 3, subfamily a2;fatty aldehyde dehydrogenase;microsomal aldehyde dehydrogenase APPROVED protein-coding ENSG00000072210 HGNC:403 07188 270200;609523 REVIEWED 1318187 ALDH3B2 aldehyde dehydrogenase 3 family, member B2 This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. The expression of these transcripts is restricted to the salivary gland among the human tissues examined. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 11 11 11 q13 64764391 64781968 - 67429633 67448685 - 67662162 67681214 - 1580863;6480464;6907045;8554872 10737800;12477932;14702039;15342556;15489334;19343046;20237496;21906983;21963094;21987572;23000965;7484374;8890755;9161417 222 E9PJV0;E9PKY9;H0YEC0;P48448 ABBA01024026;AK092464;AK299956;AK309277;AMYH02024997;AP003385;BC007685;BG009508;BP313753;BT006810;CH471076;NG_012255;NM_000695;NM_001031615 AAH07685;AAP35456;ABM84628;ABM92158;BAC03897;BAG61783;EAW74665;NP_000686;NP_001026786;P48448 Hs.87539 1694512;1795346;2125148;2148910 ALDH3B2_420;RH121969;RH18048;RH47695 ALDH8 OTTHUMP00000235616;acetaldehyde dehydrogenase 8;aldehyde dehydrogenase 8;aldehyde dehydrogenase family 3 member B2 APPROVED protein-coding ENSG00000132746 HGNC:411 03559 601917 REVIEWED 1346272 ALDH4A1 aldehyde dehydrogenase 4 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009] 1 1 1 p36 17525220 17556609 - 19197924 19229293 - 18871430 18902799 - 1580863;6480464;6907045;7240710;8554872;8699517 12477932;1286669;14679154;14986171;15489334;16341674;16710414;19898482;20453000;20877624;21832049;21890473;21988832;22516612;23568457;23825041;24502590;24583282;24816145;4851275;500817;8125298;8621661;9700195 8659 P30038;Q5TF55 ABBA01059748;ABBA01059749;AK222486;AK289972;AK294552;AL080251;AL954340;AMYH02000416;BC007581;BC023600;BM856369;BX537160;BX649081;CH471134;DC318624;FJ462711;NG_012283;NM_001161504;NM_003748;NM_170726;U24266;U24267 AAC50500;AAC50501;AAH07581;AAH23600;ABM84431;ABM87488;ACN89883;BAD96206;BAF82661;BAG57755;EAW94858;EAW94859;EAW94860;NP_001154976;NP_003739;NP_733844;P30038 Hs.77448 1688815;1766509;1795348;1847477;2161990;2174390 ALDH4A1_1756;D1S3604;RH80741;SHGC-149828;SHGC-74303;SHGC-74312 ALDH4;DKFZp779M035;P5CD;P5CDh L-glutamate gamma-semialdehyde dehydrogenase;OTTHUMP00000002544;OTTHUMP00000002545;P5C dehydrogenase;aldehyde dehydrogenase family 4 member A1;delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial;mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase APPROVED protein-coding ENSG00000159423 HGNC:406 06009 239510;606811 REVIEWED 1349903 ALDH3B1 aldehyde dehydrogenase 3 family, member B1 This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 11 11 11 q13 65109718 65130415 + 67776048 67796743 + 68008578 68029276 + 1580863;6480464;6907045;8554872 12477932;14702039;15489334;16092759;17382292;19056867;19159868;19190083;19343046;20237496;20699116;20729348;21139048;21890473;21906983;21963094;21987572;23000965;23438482;23721920;23824909;7828891;9161417;9490025 221 P43353;Q9BUJ8;S4R374 AB209651;ABBA01024019;ABBA01024020;AC004923;AK092029;AK291505;AMYH02025001;BC002553;BC013584;BC014168;BC019911;BC033099;BM561843;BT009832;CD014083;CD014084;CH471076;CK299957;DA624671;DA630186;EF411198;KF459677;KF573694;KF573695;NG_012282;NM_000694;NM_001030010;NM_001161473;NM_001290058;NM_001290059;U10868;X75688 AAA83428;AAH02553;AAH13584;AAH14168;AAH33099;AAP88834;ABM82378;ABM85557;ABN58743;BAD92888;BAF84194;EAW74678;EAW74679;EAW74680;EAW74681;EAW74682;EAW74683;NP_000685;NP_001025181;NP_001154945;NP_001276987;NP_001276988;P43353 Hs.523841 1851260;2143246;2145217;5015619;5037552 D11S2423;D11S3114;D8S2279;RH69713;STS-AA026629 ALDH4;ALDH7;FLJ26433;FLJ34710 aldehyde dehydrogenase 3B1;aldehyde dehydrogenase 7;aldehyde dehydrogenase family 3 member B1 APPROVED protein-coding ENSG00000006534 HGNC:410 02716 600466 REVIEWED 1344188 ALDH6A1 aldehyde dehydrogenase 6 family, member A1 This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 14 14 14 q24.3 54563821 54588152 - 74524365 74551196 - 74057662 74084493 - 633220;1580863;6480464;6907045;7240710 1527093 10947204;12477932;14718574;15489334;15909363;18029348;19343046;20379614;20585627;20877624;21863277;21988832;24816145;8125298 4329 G3V4Z4;Q02252 ABBA01030732;ABBA01030733;ABBA01030734;AC005484;AF038011;AF148505;AF148855;AF159889;AI244036;AJ249994;AK222687;AK223244;AK294243;AK311478;AK312389;AMYH02029507;AMYH02029508;AMYH02029509;AW418653;BC004909;BC032371;CH471061;M93405;NG_012257;NM_001278593;NM_001278594;NM_005589 AAA36328;AAB92620;AAF04489;AAF80380;AAG29581;AAH04909;AAH32371;ABM83847;ABM84606;ABW03530;BAD96407;BAD96964;BAG35306;BAG57539;CAB76468;EAW81158;EAW81159;EAW81160;NP_001265522;NP_001265523;NP_005580;Q02252 Hs.293970;Hs.744472 1652525;1675724;1688963;2110249;2150696;5124539 ALDH6A1_3184;RH69632;RH92479;RH98826;SHGC-54582;STS-R00273 MGC40271;MMSDH MMSADHA;OTTHUMP00000245431;OTTHUMP00000245432;aldehyde dehydrogenase family 6 member A1;malonate-semialdehyde dehydrogenase;methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial;mitochondrial acylating methylmalonate-semialdehyde dehydrogenase APPROVED protein-coding ENSG00000119711 HGNC:7179 04416 603178;614105 REVIEWED 1345188 ALDH7A1P2 aldehyde dehydrogenase 7 family, member A1 pseudogene 2 2 2 q31.1 173758491 173759111 - 172893763 172894383 - 9417906 542 ABBA01020743;AC009484;AMYH02005245;NG_023632 ATQL2 APPROVED pseudo HGNC:879 VALIDATED 1353754 ALDH7A1P3 aldehyde dehydrogenase 7 family, member A1 pseudogene 3 7 7 7 q36 144795796 144796319 - 150238720 150239243 - 150541632 150542155 - 9417906 543 ABBA01035185;AC069304;AF002694;AMYH02017059;NG_001083 ATQL3 APPROVED pseudo HGNC:880 INFERRED 735245 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p22 25728607 25770806 + 24495197 24537435 + 24494969 24537207 + 632258;1580863;6480464;6907045;7240710;8554872;8699517 7814412 11243727;11901270;12208142;12477932;12629812;14574404;14635103;14981524;15037717;15489334;15642443;16199352;16406321;16786440;17457693;17913586;18029348;18457437;18505418;19086053;19300440;19343046;19667317;20201926;20301374;20363598;20379614;20445195;20659789;20877624;21438145;22001757;22437753;22939629;23516105;23825041;23926001;24327614;24722188;6470007;9059628;9683595 7915 C9J8Q5;P51649;X5D299;X5DQN2 ABBA01066536;AJ427353;AJ427354;AJ427355;AK025722;AK290800;AK294699;AK314357;AK315380;AL031230;AMYH02013326;AMYH02013327;BC034321;CH471087;KJ534766;KJ534767;KJ534768;KJ534769;L34820;NG_008161;NM_001080;NM_170740;X92753;Y11192 AAA67057;AAH34321;ABM82597;ABM85783;AHW56406;AHW56407;AHW56408;AHW56409;BAF83489;BAG37773;BAG57857;CAA72076;CAD20882;CAD20883;CAD20884;EAW55452;EAW55453;EAW55454;NP_001071;NP_733936;P51649 Hs.371723 1651887;1653988;1666351;1792858;1795350;5014051;5022651;5037552 ALDH5A1_295;D11S2921;D8S2278;D8S2279;PMC166143P14;RH48155;STS-D25573;WI-11539 SSADH;SSDH NAD(+)-dependent succinic semialdehyde dehydrogenase;OTTHUMP00000016088;OTTHUMP00000214393;OTTHUMP00000214394;aldehyde dehydrogenase 5 family member A1;aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase);aldehyde dehydrogenase family 5 member A1;aldehyde dehydrogenase family 5, subfamily a1;mitochondrial succinate semialdehyde dehydrogenase;succinate-semialdehyde dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000112294 HGNC:408 08361 271980;610045 REVIEWED 1318489 ALDH7A1 aldehyde dehydrogenase 7 family, member A1 The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011] 5 5 5 q31 1067 2865 - 125877533 125931104 - 126541841 126595390 - 1580863;6480464;6907045;7240710;8554872;8699517 10978228;12477932;12766061;14702039;15489334;16159904;16169070;16344560;16491085;17068770;17088338;17433748;17721876;18029348;18717709;18854520;19128417;19142996;19294602;19885858;20072603;20207735;20301659;20512086;20562859;20639122;20814824;20877624;21139048;21185811;21338592;21647815;21832049;21890473;21988832;22249334;22305855;22784480;22863883;23054014;23376216;23647301;23683770;24122892;24654937;24664145;8088832;9417906 501 F8VS02;F8VVF2;F8WD33;F8WDY6;H0YHM6;P49419 ABBA01068902;ABBA01068903;ABBA01068904;AC093535;AC099513;AF002696;AI039375;AK021800;AK092507;AK123774;AK295526;AK297365;AK312459;AMYH02012138;AMYH02012139;AU135961;BC002515;BC071712;BC073174;BG680326;BU153725;CD678674;CH471086;DB501575;DC375277;NG_008600;NM_001182;NM_001201377;NM_001202404;S74728 AAB31966;AAC51935;AAH02515;AAH71712;AAH73174;ACE86594;ACE87275;BAG35366;BAG58439;BAG59812;EAW48851;NP_001173;NP_001188306;NP_001189333;P49419 Hs.483239 1339760;1340256;1661133;1664391;1669199;2124327;2140109;2144152;2149256;2155264;2186912;5022651;5109362 AFMa128xh5;D11S2921;D17S1239;D5S1933;D5S1972;D5S2017;D5S2464;D5S2596;D5S2646;RH47147;RH65314;RH78357;SGC30136 ATQ1;EPD;FLJ11738;FLJ92814;PDE 26g turgor protein homolog;OTTHUMP00000159189;OTTHUMP00000242046;P6c dehydrogenase;aldehyde dehydrogenase family 7 member A1;alpha-AASA dehydrogenase;alpha-aminoadipic semialdehyde dehydrogenase;antiquitin 1;antiquitin-1;betaine aldehyde dehydrogenase;delta1-piperideine-6-carboxylate dehydrogenase;delta1-piperideine-6-carboxylate dehydrogenease APPROVED protein-coding ENSG00000164904 HGNC:877 00124 107323;266100 REVIEWED 1350929 ALDH7A1P4 aldehyde dehydrogenase 7 family, member A1 pseudogene 4 10 10 10 q21 57768131 57768580 - 64500750 64501154 - 62740990 62741394 - 22747683;9417906 544 ABBA01019491;AC067751;AF002695;AMYH02023195;NG_001084 ATQL4 APPROVED pseudo HGNC:881 INFERRED 1352783 ALDH7A1P1 aldehyde dehydrogenase 7 family, member A1 pseudogene 1 5 5 5 q14 72480239 72482049 + 76586009 76587819 + 77290184 77291994 + 16004729;9417906 541 ABBA01061980;AC022414;AF002693;AMYH02011615;NG_001082;NG_023364 2140109;2144152;2155264 D5S2464;D5S2596;RH47147 ATQL1 antiquitin-like 1 pseudo HGNC:878 INFERRED 735815 ALDOA aldolase A, fructose-bisphosphate The protein encoded by this gene, Aldolase A (fructose-bisphosphate aldolase), is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing and alternative promoter usage results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Aug 2011] 16 16 16 p11.2 72713985 72731229 - 30064411 30081741 + 30053190 30063861 + 1599054;1599061;1300048;1580863;2302796;2325696;6480464;6484113;6907045;7240710;8554872;8699517 10395295;16930621;19077459;5251864 10048322;1008835;10369770;11287212;11399750;11876650;12477932;12519789;12601813;12665801;1353685;14499622;14615364;14669989;14760703;14766013;15231747;15489334;15592455;15952740;15967462;16009940;1602151;16027165;16097034;16196087;16236267;16263121;16289162;16335966;16344560;16712791;16916647;17081983;17329259;17641064;18029348;18214967;18278581;18328256;18781797;19135240;19242545;19338310;19471022;19615732;19738201;19741270;19946888;1999195;20000738;20029029;20181627;20362419;20381070;20511553;2056525;20639865;2065091;20706999;20849852;21044950;21078624;21081666;21139048;21145461;21307348;21319273;21555518;21565611;21853274;21890473;21906983;21963094;21987572;21988832;22053931;22079093;22108332;2229018;22304920;22505724;22536838;22623428;22623531;22863883;22939629;22944692;22949271;22990118;22996014;23000965;23077236;23349634;2335208;23874603;23886627;24030972;24250222;24457600;24561123;24583282;24816145;25015289;25027693;2825199;3030757;3046960;3355497;3391172;3441006;3570299;3674018;3840020;6406231;6696436;766744;7821789;8103323;844801;8598869;9244396;955981 226 H3BMQ8;H3BPS8;H3BQN4;H3BR04;H3BR68;H3BU78;H3BUH7;H3BUK5;J3KPS3;P04075;V9HWN7 ABBA01013105;ABBA01013106;AC093512;AC243947;AK026577;AK098778;AK301993;AK308495;AK308748;BC000367;BC004333;BC010660;BC012880;BC013614;BC015888;BC016170;BC016800;BE893518;BQ719865;BU855133;BX647566;CB151262;CH471238;CR536528;CR541880;D28356;DA138954;DA564075;DA893541;DA899482;DB057572;EF036496;EF036497;FJ474908;M11560;M21190;NG_008010;NM_000034;NM_001127617;NM_001243177;NM_184041;NM_184043;X05236;X06352;X12447;XM_006721109 AAA51690;AAA51697;AAH00367;AAH04333;AAH10660;AAH12880;AAH13614;AAH15888;AAH16170;AAH16800;ABM81991;ABM85172;ABO65082;ABO65083;ACQ91105;BAA05722;BAG63399;CAA28861;CAA29654;CAA30979;CAG38765;CAG46678;EAW79933;EAW79934;EAW79935;EAW79936;NP_000025;NP_001121089;NP_001230106;NP_908930;NP_908932;P04075;XP_006721172 Hs.513490;Hs.732822 1679840;1680200;1684618;1685077;1735996;1736544;1744329;1769875 D10S1286E;D10S2367;D16S2545E;GDB:451697;RH47250;RH67859;RH80798;hsaldoa ALDA;GSD12;HEL-S-87p;MGC10942;MGC17716;MGC17767 OTTHUMP00000162983;OTTHUMP00000162984;aldolase a;epididymis secretory sperm binding protein Li 87p;fructose-1,6-bisphosphate triosephosphate-lyase;fructose-bisphosphate aldolase A;lung cancer antigen NY-LU-1;muscle-type aldolase APPROVED protein-coding ENSG00000149925 HGNC:414 00070 103850;611881 REVIEWED 1345484 ALDOAP2 aldolase A, fructose-bisphosphate pseudogene 2 10 10 10 q26.13 121130663 121132039 - 127355249 127356625 - 125666680 125668056 - 2828224;3674018 228 ABBA01034168;AL158835;AMYH02023994;M21191;NG_005637 Hs.652473 1735996;5017689 ALDOA;D10S1286E pseudo HGNC:416 INFERRED 1343915 ALDRL2 aldehyde reductase (aldose reductase)-like 2 8244370 233 HGNC:421 1319646 ALDH8A1 aldehyde dehydrogenase 8 family, member A1 This protein belongs to the aldehyde dehydrogenases family of proteins. It plays a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal relative to all-trans-retinal. Three transcript variants encoding distinct protein isoforms have been identified for this gene. [provided by RefSeq, Jul 2010] 6 6 6 q23.2 135978855 136011613 - 135238528 135271260 - 134917390 134950122 - 1580863;6480464;8554872 11007799;12477932;16344560;19056867;19343046;21832049;22082156;23870195;8125298 64577 E9PKV1;H0YF40;Q9H2A2 ABBA01025846;ABBA01025847;ABBA01025848;AF303134;AK074266;AK222848;AK290784;AK298325;AL021939;AL445190;AMYH02014542;BC020849;BC113862;BC114473;BF590409;BX647324;CH471051;DA635162;NG_012261;NM_001193480;NM_022568;NM_170771;XM_006715551 AAG42417;AAI13863;AAI14474;BAD96568;BAF83473;BAH12757;EAW47985;EAW47986;NP_001180409;NP_072090;NP_739577;Q9H2A2;XP_006715614 Hs.486520 1665743;1795352;2181511 ALDH8A1_1599;STS-N70701;STS-R89092 ALDH12;DJ352A20.2;DKFZp779D2315;MGC138650 OTTHUMP00000017250;OTTHUMP00000017251;OTTHUMP00000234165;aldehyde dehydogenase 8 family, member A1;aldehyde dehydrogenase 12;aldehyde dehydrogenase family 8 member A1;aldehyde dehydrogenase family protein APPROVED protein-coding ENSG00000118514 HGNC:15471 06974 606467 REVIEWED 737371 ALDOB aldolase B, fructose-bisphosphate Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008] 9 9 9 q21.3-q22.2 74696447 74711667 - 104182842 104198062 - 101420560 101435780 - 1300369;1599063;1580863;2313432;2313434;2313440;2313414;1599639;2313429;2302804;2302796;2313437;6480464;6484113;6907045;7240710;8554872;8699517 11904435;12646233;15532022;16127739;19106228;2984252;5251864;8096362;8255543;8264573;8403244 10024431;10625657;10970798;11241348;11399750;11679716;11752456;12205126;12417303;12464284;12477932;14966907;15063762;15880727;16406649;17292585;17457694;17576770;17955389;18000879;18029348;18541450;18700007;1967768;19817957;20033295;20162364;20848650;20882353;21166391;21832049;21890473;21963094;21987572;21988832;22001757;22505724;22911800;2336380;2410860;2649152;2830249;3000275;3016456;3383242;6548561;6585824;6689266;7717389;8162030;8299883;8535439;9244396 229 P05062;Q5T7D5 ABBA01042874;AK026411;AK290795;AL353621;AMYH02021354;AV645373;AV656265;AW242415;BC029399;BG616536;CH471105;D00183;M15656;NG_012387;NM_000035;X00270;X01098;X02747 AAA51691;AAH29399;BAA00125;BAF83484;CAA25072;CAA25572;CAA26526;EAW58951;EAW58952;NP_000026;P05062 Hs.530274 1668366;1681185;1694892;1699394;1712182;1722427;1741583;1741629;1742007;1742607;1743841;2143814;2170464;2179683;2181332;5111296;5491934 ALDOB-1;D9S1710;D9S2043;G31116;G44329;G54142;G60287;GDB:181545;GDB:181596;GDB:188697;GDB:198061;GDB:374776;RH103288;RH11595;RH46544;RH80895;STS-T50700 ALDB;ALDO2 OTTHUMP00000021803;OTTHUMP00000021804;aldolase 2;aldolase B, fructose-bisphosphatase;fructose-bisphosphate aldolase B;liver-type aldolase APPROVED protein-coding ENSG00000136872 HGNC:417 01972 229600;612724 REVIEWED 1344311 ALFN1 activator of liver function 1 (hepatic phenotype restoration inducing sequence) 7940018 237 X15584 HGNC:426 1343752 ALDOAP1 aldolase A, fructose-bisphosphate pseudogene 1 3 3 3 p21.2 52206379 52208324 + 52227061 52229007 + 52193045 52194991 + 23974872;3674018 391538 ABBA01024511;AC006252;AC097637;AMYH02006798;NG_004867 1684618;1744329;5017689 ALDOA;GDB:451697;RH47250 pseudo HGNC:415 INFERRED 69125 ALDOC aldolase C, fructose-bisphosphate This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008] 17 17 17 cen-q12 23759160 23762978 - 26900133 26904282 - 28573115 28577264 - 734555;1300048;1580863;2301132;2301133;2301134;2301136;6480464;6907045 16356555;17053973;17182680;3105602;3830170 11399750;11876650;12477932;15489334;15537755;15589842;16196087;16916647;17500595;19034380;19056867;19110265;19405953;19686046;20381070;21139048;21145461;21890473;21906983;21963094;21987572;21988832;22053931;2209624;22505724;22797925;22863883;22939629;23000965;23824909;23874603;24163370;24816145;2731939;3267224;3674018;5230152;8619474;9110174;9244396 230 A8MVZ9;C9J8F3;J3KSV6;J3QKK1;J3QKP5;K7EKH5;P09972 ABBA01015052;AC005726;AF054987;AK293453;AK293623;AK293693;AK294091;AK294157;AK296039;AK296053;AK312281;AMYH02033223;BC003613;BC065565;BC103760;BC106925;BC106926;BF345067;BT007006;CH471159;CR541862;CR541881;HI574194;NM_005165;X05196;X07292;XM_005257947;XM_005257949 AAC09348;AAH03613;AAH65565;AAI03761;AAI06926;AAI06927;AAP35652;BAG35210;BAH11512;BAH11551;BAH11572;BAH11668;BAH11685;BAH12243;BAH12245;CAA28825;CAA30270;CAG46660;CAG46679;CBX47586;EAW51104;EAW51105;NP_005156;P09972;XP_005258004;XP_005258006 Hs.155247 1663727;1698818;2107827 ALDOC_8198;G21480;RH102973 ALDC OTTHUMP00000163435;OTTHUMP00000163436;OTTHUMP00000163437;aldolase 3;aldolase c, fructose-biphosphate;brain-type aldolase;fructoaldolase C;fructose-1,6-biphosphate triosephosphate lyase;fructose-bisphosphate aldolase C APPROVED protein-coding ENSG00000109107 HGNC:418 02386 103870 REVIEWED 1321758 ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008] 16 16 16 p13.3 5331197 5346774 + 5121810 5137380 + 5071809 5087379 + 6480464;6907045;7240710;8554872;8699517 10704531;12477932;12975309;14709599;14973778;14973782;15489334;16303743;16341674;16344560;19946888;20301507;20379614;20679665;21139048;21890473;21963094;21987572;22268729;22359512;22678362;22966035;23824909;24157261 56052 B4DP08;K7EID2;K7EPU3;K7EQK1;Q9BT22 AA810665;AB019038;ABBA01026798;ABBA01026799;AC026458;AK075373;AK298144;AK311475;AMYH02031332;AY359073;BC004402;BC031095;BC031873;BM767933;BQ002699;CA455103;CD366777;CH471112;CS051167;DA879477;NG_009202;NM_019109;XM_005255431 AAH04402;AAH31095;AAQ89432;ABM85936;ABW03760;BAA90748;BAC11576;BAG60420;CAI72079;EAW85240;EAW85241;NP_061982;Q9BT22;XP_005255488 Hs.592086 5112137 a06503sbk CDG1K;HMAT1;HMT-1;HMT1;MT-1;Mat-1;hMat-1 GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase;GDP-mannose-dolichol diphosphochitobiose mannosyltransferase;OTTHUMP00000159923;asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase);asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase);asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog;asparagine-linked glycosylation protein 1 homolog;beta-1,4 mannosyltransferase;beta-1,4-mannosyltransferase;chitobiosyldiphosphodolichol beta-mannosyltransferase;mannosyltransferase-1 APPROVED protein-coding HGNC:18294 10437 605907;608540 REVIEWED 68603 ALDH9A1 aldehyde dehydrogenase 9 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 138736605 138773321 - 165631449 165667900 - 165662212 165698663 - 1300048;1580863;6480464;6907045 10702312;11790142;12477932;15893726;16710414;18029348;18334916;19056867;19064610;19343046;19536175;19615732;20379614;20562859;20639865;20877624;21139048;21145461;21890473;21906983;21963094;22505724;22863883;22990118;23000965;24816145;25015289;2925663;8112751;8269919;8645224;8786138;9417993 223 B4DX14;B9EKV4;P49189 ABBA01047280;AF172093;AK293520;AK301767;AK302183;AK302191;AK302654;AK312751;AL451074;AMYH02002065;BC011410;BC070030;BC151140;BC151141;CH471067;NG_012256;NM_000696;U34252;U50203;X75425 AAB06721;AAB18827;AAF43600;AAI51141;AAI51142;BAG35618;BAG57002;BAG63226;BAG63549;BAG63554;BAG63893;CAA53176;EAW90758;NP_000687;P49189 Hs.2533 1654374;1768091;1797274;2133900 ALDH9A1_701.2;D1S3343;WI-12686;WI-9287 ALDH4;ALDH7;ALDH9;E3 4-trimethylaminobutyraldehyde dehydrogenase;OTTHUMP00000032604;R-aminobutyraldehyde dehydrogenase;TMABADH;aldehyde dehydrogenase (NAD+);aldehyde dehydrogenase E3 isozyme;aldehyde dehydrogenase family 9 member A1;gamma-aminobutyraldehyde dehydrogenase APPROVED protein-coding ENSG00000143149 HGNC:412 04109 602733 REVIEWED 1351399 ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q23 111403980 111483384 + 110924346 111003877 + 111681047 111760649 + 6480464;8699517;7240710;8554872 11181995;12477932;14702039;15342556;15489334;15772651;16100110;16341674;16344560;16713569;17686769;20301507;21890473;22797925;2283726;2341393;24255178;24722188;2649653;7505766;8125298;8218172 79868 D6RD27;D6RE84;Q9NP73;X6RD70 ABBA01043257;ABBA01043258;ABBA01043259;ABBA01043260;ABBA01043261;ABBA01043262;AF220051;AK026671;AK056347;AK223154;AK300394;AK302729;AK302890;AK304712;AK311608;AK312229;AK316306;AK316522;AL049563;AL096764;AL524204;AMYH02040238;AMYH02040239;BC005336;BC117377;BC117379;BE747995;BF239206;BF240663;BF699152;BG621042;BM759764;BP344481;BQ007420;BQ015240;CB268871;CH471120;DA830058;DB292609;DB516751;DC400909;DN992019;NG_016238;NM_001039210;NM_001099922;NM_001168385;NM_001257230;NM_001257231;NM_001257234;NM_001257235;NM_001257237;NM_001257239;NM_001257240;NM_001257241;NM_018466;NR_033125;XM_005262191;XM_006724693;XM_006724694;XM_006724695;XM_006724696;XM_006724697;XM_006724698;XM_006724699;XM_006724700;XM_006724701;XM_006724702;XM_006724703;XM_006724704 AAF67644;AAH05336;AAI17378;AAI17380;BAB15521;BAD96874;BAG35162;BAH13276;BAH13790;BAH13833;BAH14244;BAH14677;BAH14893;EAX02634;EAX02635;EAX02636;EAX02637;NP_001034299;NP_001093392;NP_001161857;NP_001244159;NP_001244160;NP_001244163;NP_001244164;NP_001244166;NP_001244168;NP_001244169;NP_001244170;NP_060936;Q9NP73;XP_005262248;XP_006724756;XP_006724757;XP_006724758;XP_006724759;XP_006724760;XP_006724761;XP_006724762;XP_006724763;XP_006724764;XP_006724765;XP_006724766;XP_006724767 Hs.443061 CDG1S;CXorf45;FLJ23018;GLT28D1;MDS031;TDRD13;YGL047W N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase;UDP-N-acetylglucosamine transferase subunit ALG13 homolog;asparagine-linked glycosylation 13 homolog;chromosome X open reading frame 45;glycosyltransferase 28 domain-containing protein 1;hematopoietic stem/progenitor cells protein MDS031;putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13;tudor domain containing 13 APPROVED protein-coding ENSG00000101901 HGNC:30881 06542 300776;300884 REVIEWED 1312492 ALG12 ALG12, alpha-1,6-mannosyltransferase This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34218131 34233386 - 50296852 50312106 - 49903204 49918458 - 6480464;6907045;7240710;8554872 10591208;11983712;12093361;12217961;12477932;12736397;15272470;15273506;15461802;15489334;15498874;19946888;20301507;21963094;21988832;24250222 79087 H7C4I6;H7C5R7;Q9BV10 ABBA01031320;AF258571;AF318343;AJ290427;AJ303120;AL671710;AMYH02038589;BC001729;BC098562;BM145575;CB858085;CH471138;CR456369;NG_008927;NM_024105 AAG23774;AAH01729;AAH98562;AAL55850;ABM83756;ABM87075;CAC67488;CAC83681;CAG30255;CAK54650;CAK54949;EAW73480;EAW73481;EAW73482;NP_077010;Q9BV10 Hs.526711 1657410;1684562;1686438;1758453 D22S972E;RH80254;SHGC-148387;SHGC-36778 CDG1G;ECM39;MGC111358;MGC3136;PP14673;hALG12 OTTHUMP00000196969;asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase);asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase);asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog;asparagine-linked glycosylation protein 12 homolog;dol-P-Man dependent alpha-1,6-mannosyltransferase;dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase;dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase;dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase;dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase;mannosyltransferase ALG12 homolog;membrane protein SB87 APPROVED protein-coding HGNC:19358 06189 607143;607144 REVIEWED 1348986 ALG13 asparagine-linked glycosylation 13 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cellular protein metabolic process (inferred); dolichol-linked oligosaccharide biosynthetic process (inferred); lipid glycosylation (inferred); PARTICIPATES IN N-linked glycan biosynthetic pathway; ASSOCIATED WITH CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is (inferred); FOUND IN endoplasmic reticulum membrane (inferred) q23 737633;1580863;6907045;7240710 12477932 15489334;15772651;16100110;2283726;2341393;2649653;8218172 55849 D6RD27;D6RE84;X6RD70 AF220051;AL096764;BC005336;CH471120;CR604429;NM_018466 AAF67644;AAH05336;EAX02634;EAX02635;EAX02636;EAX02637;NP_060936;Q9NP73 Hs.659791 1678723;1694094;1702312;1702418;1716793;1851404;2174442 AL035135;DXS7012E;RH121691;RH93842;SHGC-16527;UniSTS:99323;WI-14094 CXorf45;GLT28D1;MDS031;YGL047W protein-coding HGNC:30881 06635 300776;300884 1344377 ALG10B ALG10B, alpha-1,2-glucosyltransferase ENCODES a protein that exhibits transferase activity, transferring hexosyl groups (inferred); INVOLVED IN cellular protein metabolic process (inferred); dolichol-linked oligosaccharide biosynthetic process (inferred); metabolic process (inferred); PARTICIPATES IN N-linked glycan biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH calcitriol; ethyl methanesulfonate; methyl methanesulfonate 12 12 12 q12 37514920 37527825 + 38710557 38723528 + 38316741 38329726 + 6480464;6907045;8554872 12477932;14525949;14702039;15280551;16344560;19483685;20950623;21890473;21906983 144245 F8VWA9;F8VXJ0;Q5I7T1 ABBA01049520;ABBA01049521;AC117372;AK123102;AK307955;AMYH02026324;AY845858;BC137413;BC137414;BC144617;BQ024224;CH471111;DB224774;DB254106;NM_001013620;XM_005268665;XM_006719243 AAI37414;AAI37415;AAW31756;EAW57795;NP_001013642;Q5I7T1;XP_005268722;XP_006719306 Hs.259305 1694724;5024545 D1S3695;G43553 ALG10;KCR1 OTTHUMP00000240708;alpha-1,2-glucosyltransferase ALG10-A;alpha-2-glucosyltransferase ALG10-B;asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase);asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B;asparagine-linked glycosylation protein 10 homolog B;dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase;modifier of the HERG potassium channel;potassium channel regulator 1;putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase;putative alpha-1,2-glucosyltransferase ALG10-B APPROVED protein-coding ENSG00000175548 HGNC:31088 11923 VALIDATED 1345350 ALG10 ALG10, alpha-1,2-glucosyltransferase This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010] 12 12 12 p11.1 13983778 13989799 + 34175216 34181237 + 34022281 34028302 + 6480464;6907045;7240710;8554872 12200473;12477932;14525949;14702039;15489334;17903297;19204726;20301308;21139048;21890473;21906983;9597543;9722534 84920 F5GZZ6;F5H5T2;Q5BKT4 ABBA01031684;AC046130;AJ312278;AK027657;AK292488;AMYH02026318;BC022336;BC033730;BC070347;BC075807;BC090948;CH471116;NG_016389;NM_032834;W05355;XM_006719157;XM_006719158 AAH70347;AAH90948;ABM82982;ABM86176;BAB55272;BAF85177;CAC41349;EAW88508;NP_116223;Q5BKT4;XP_006719220;XP_006719221 Hs.102971 1680715 RH47812 ALG10A;DIE2;FLJ14751;KCR1 OTTHUMP00000240685;alpha-1,2-glucosyltransferase ALG10-A;alpha-2-glucosyltransferase ALG10-A;alpha2-glucosyltransferase;asparagine-linked glycosylation 10 homolog (yeast, alpha-1,2-glucosyltransferase);asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog;asparagine-linked glycosylation protein 10 homolog A;derepression of ITR1 expression 2 homolog;dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase;dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase;potassium channel regulator 1 APPROVED protein-coding ENSG00000139133 HGNC:23162 603313;613688 REVIEWED 6903415 ALG1L14P asparagine-linked glycosylation 1-like 14, pseudogene 4 4 9167906 9172244 - 9166406 9170298 - 100996649 AC108519 pseudo HGNC:44383 MODEL 1604899 ALG11 ALG11, alpha-1,2-mannosyltransferase This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010] 13 13 13 q14.2 33635189 33652418 + 52586523 52603784 + 52012387 52029648 + 6480464;6907045;7240710;8554872;8699517 12477932;15342556;16354793;17353931;19946888;20080937;20301507;21139048;22213132 440138 Q2TAA5;Q5TAP0 ABBA01051053;ABBA01051054;AK025456;AK128503;AK296747;AL139082;AL162377;AMYH02028040;BC010857;BC073862;BC108677;BC111022;BC142998;BP373026;DC366525;HH961780;NG_028038;NM_001004127;NR_036571 AAH10857;AAH73862;AAI11023;AAI42999;AAI43060;AAI50317;BAG59331;CBX51363;NP_001004127;Q2TAA5 Hs.512963;Hs.732220 1648904;1700368;2114518;2124859;2130738 RH103804;SHGC-3226;SHGC-8883;STS-R36092;WI-13764 CDG1P;GT8;KIAA0266;UTP14C GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase;OTTHUMP00000018446;UTP14, U3 small nucleolar ribonucleoprotein, homolog C;asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog;asparagine-linked glycosylation protein 11 homolog;glycolipid 2-alpha-mannosyltransferase APPROVED protein-coding ENSG00000253710 HGNC:32456 11265 613661;613666 REVIEWED 6903417 ALG1L3P asparagine-linked glycosylation 1-like 3, pseudogene 4 4 4 p16.1 10184705 10195353 - 9704468 9712436 - 9702844 9710812 - 9847074 100132066 ABBA01032504;ABBA01032505;AC098976;AC105916;AMYH02008741;NG_008784 1802842;2020044 ECD02309;REN80978 pseudo HGNC:44372 INFERRED 6903413 ALG1L12P asparagine-linked glycosylation 1-like 12, pseudogene 8 8 12278528 12283783 + 12421019 12426274 + 100421097 AC087203;AC243920;NG_026086 pseudo HGNC:44381 INFERRED 1605265 ALG1L ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 3 3 3 q21.2 124067856 124075639 - 125647459 125709383 - 125928840 125937044 - 6480464 12477932;21963094 200810 Q6GMV1 ABBA01016401;AC092903;AMYH02007580;BC073816;BI085096;CD685738;CH471052;NM_001015050;NM_001195223;XM_005247201;XM_006713528 AAH73816;ADR82727;EAW79378;EAW79379;EAW79380;EAW79381;NP_001015050;NP_001182152;Q6GMV1;XP_005247258;XP_006713591 Hs.591299 1699212;1768459 RH103187;SHGC-77297 ALG1L1 OTTHUMP00000215882;asparagine-linked glycosylation 1-like 1;beta-1,4-mannosyltransferase-like;putative glycosyltransferase ALG1-like APPROVED protein-coding ENSG00000189366 HGNC:33721 18574 VALIDATED 6901169 ALG1L15P asparagine-linked glycosylation 1-like 15, pseudogene 3 3 3 q25.31 154183806 154184620 - 155761918 155762739 - 156044129 156044950 - 730086 ABBA01058844;AC067721;AC125607;AMYH02007968;NG_008778 1757743;1784704 SHGC-146410;SHGC-149644 pseudo HGNC:44384 INFERRED 1604512 ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit Asparagine (N)-glycosylation is an essential modification that regulates protein folding and stability. ALG13 and ALG14 (MIM 612866) constitute the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation (Averbeck et al., 2007 [PubMed 17686769]).[supplied by OMIM, Jun 2009] 1 1 1 p21.3 93702743 93792951 - 95448279 95538512 - 94982723 95072956 - 6480464;6907045 12477932;15489334;15615718;16100110;17686769;18976975;21139048;21890473;22359512;23362303;23404334 199857 Q96F25 ABBA01045501;AC095033;AC105942;AK289395;AMYH02001512;BC011706;BX322578;CH471097;NM_144988;XM_005270582 AAH11706;BAF82084;EAW73026;EAW73027;NP_659425;Q96F25;XP_005270639 Hs.408927 1337799;1719871;1781856;1847742;2146813 AL009319;AL009906;D1S2819;RH123629;SHGC-84177 MGC19780 OTTHUMP00000012469;UDP-N-acetylglucosamine transferase subunit ALG14 homolog APPROVED protein-coding HGNC:28287 14466 612866 VALIDATED 6903419 ALG1L8P asparagine-linked glycosylation 1-like 8, pseudogene 11 11 11 q13.2 64876374 64893691 + 67552741 67560816 + 67785270 67793345 + 645015 ABBA01024026;AP003716;NG_008772 1768459;2020022;2020024;2020042;2020064;2020070 REN80967;REN80968;REN80977;REN80988;REN80994;SHGC-77297 pseudo HGNC:44377 INFERRED 6900943 ALG1L6P asparagine-linked glycosylation 1-like 6, pseudogene 3 3 3 p12.3 75412145 75419991 + 75464218 75473882 + 75415067 75424731 + 12477932;16344560 339879 ABBA01030984;AC139453;AMYH02007087;NG_008769 1699212 RH103187 pseudo HGNC:44375 INFERRED 6903390 ALG1L9P asparagine-linked glycosylation 1-like 9, pseudogene 11 11 11 q13.4 68813411 68817835 - 71505409 71524905 - 71794363 71813859 - 12477932 285407 ABBA01017546;ABBA01017547;AL534280;AMYH02025068;AP002495;BC054093;BC073927;NR_073386;NR_073387;NR_073388;R18473 Hs.546711;Hs.657094;Hs.689051;Hs.744693 5037552;5110807 D11S3974;D8S2279 pseudo ENSG00000248671 HGNC:44378 VALIDATED 6903436 ALG1L5P asparagine-linked glycosylation 1-like 5, pseudogene 7 7 7 p22.1 6933345 6941362 + 6963443 6971462 + 6923812 6931831 + 9847074 647415 ABBA01056512;AC079804;AMYH02015186;NG_008785 2020020;2020188 REN80963;REN81060 pseudo HGNC:44374 INFERRED 3378598 ALG1L2 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2 ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 3 3 3 q22.1 128227614 128245632 + 129800674 129817233 + 130081831 130098390 + 6480464 12477932;21890473 644974 C9J202 ABBA01059209;AC083906;AMYH02007654;BI833803;CH471052;NM_001136152 C9J202;EAW79228;NP_001129624 Hs.722197 1662590;1665297;1802842;1834048;2020024;2020060;2020078;2020140;2099824;5112137 D21S1819;ECD02309;ECD18172;REN80968;REN80986;REN80998;REN81031;SHGC-52066;a06503sbk;stSG606397 asparagine-linked glycosylation 1-like 2;beta-1,4 mannosyltransferase-like;putative glycosyltransferase ALG1L2 APPROVED protein-coding ENSG00000251287 HGNC:37258 VALIDATED 6901398 ALG1L7P asparagine-linked glycosylation 1-like 7, pseudogene 4 4 4 p16.3 3835178 3844779 + 3937173 3946775 + 3935446 3945048 + 728263 ABBA01008231;ABBA01008232;AC143342;AC226119;AMYH02008639;NG_008780 2020190;2114920;5019699 A009G03;G32520;REN81062 pseudo HGNC:44376 INFERRED 7241605 ALG3P1 ALG3, alpha-1,3- mannosyltransferase pseudogene 1 5 5 5 p15.32 5401948 5403160 - 5375745 5376957 - 5375632 5376844 - 15108280 442131 ABBA01016136;AC091978;AMYH02010797;BK001241;NG_004807 pseudo HGNC:45159 INFERRED 1318934 ALG5 ALG5, dolichyl-phosphate beta-glucosyltransferase This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 13 13 13 q13.3 18591143 18640745 - 37523907 37573504 - 36949770 36999367 - 1580863;6480464;6907045 10359825;11042152;12477932;15342556;15489334;19946888;21139048;21906983;24816145;8889548 29880 B4DR67;Q9Y673 ABBA01021347;ABBA01021348;ABBA01021349;AF088028;AF102850;AF161498;AF183413;AI027225;AK299085;AK299126;AL138706;AMYH02027873;AMYH02027874;BC012531;BF668393;BG482604;BP246765;BU739112;CB988638;CH471075;NM_001142364;NM_013338;XM_005266362 AAD41465;AAF29113;AAG09682;AAH12531;BAG61149;BAG61179;EAX08577;EAX08578;NP_001135836;NP_037470;Q9Y673;XP_005266419 Hs.507769 1662101;2132822 SHGC-34125;STS-W15306 RP11-421P11.2;bA421P11.2 Alg5, S. cerevisiae, homolog of;OTTHUMP00000018263;asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase);asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase);asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog;asparagine-linked glycosylation protein 5 homolog;dolP-glucosyltransferase;dolichyl phosphate glucosyltransferase;dolichyl-phosphate beta-glucosyltransferase APPROVED protein-coding ENSG00000120697 HGNC:20266 05193 604565 REVIEWED 6481017 ALG9-IT1 ALG9 intronic transcript 1 (non-protein coding) 100874303 AP001781 ncrna HGNC:41409 1320554 ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] 9 9 9 q22.33 72492570 72498109 - 101978707 101984246 - 99216425 99221964 - 6480464;6907045;7240710;8554872 11278427;11883939;12445460;12477932;12684507;12771190;12804766;12975309;14702039;14999017;15164053;15272470;15273506;15489334;16004603;16303743;16344560;16751776;16957052;16996505;17045351;17174262;17196169;17889823;18256029;18936101;19013425;19383317;19520058;20301507;20571937;20691033;20834162;21890473;21906983;22437941;23404334;23874384;23924735;24069399 85365 Q9H553 AA017454;AB161356;ABBA01042903;AK027417;AK027814;AK074704;AK074988;AK075172;AK075189;AL137067;AMYH02021329;AY358697;BC015126;BC017876;CH471105;CQ782967;CQ783609;DA076693;DB019023;NG_008928;NM_033087;NR_024532 AAH17876;AAQ89060;ABM82915;ABM86105;BAB55099;BAC11150;BAC11337;BAC11449;BAD11905;BAG51380;CAF86196;CAF86774;EAW58908;EAW58909;EAW58910;EAW58911;NP_149078;Q9H553 Hs.40919 1683343;1698622;1770047;1772288;1852966;1856869;2110251;2178439 ALG2__4282;D9S2091;RH102866;RH48942;RH78836;RH80035;SHGC-30916;WI-11370 CDGIi;FLJ14511;NET38;hALPG2 GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase;GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase;GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase;OTTHUMP00000123474;alpha-1,3-mannosyltransferase ALG2;alpha-1,3/1,6-mannosyltransferase ALG2;asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog;asparagine-linked glycosylation protein 2 homolog;homolog of yeast ALG2 APPROVED protein-coding HGNC:23159 09716 607905;607906 REVIEWED 1342764 ALG9 ALG9, alpha-1,2-mannosyltransferase This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 11 11 11 q23 108806108 108895523 - 111652919 111742305 - 111782195 111871581 - 1580863;6480464;6907045;7240710;8554872 11076863;11230166;12030331;12477932;14519663;14702039;15148656;15489334;15489336;15945070;16344560;16381901;16859551;19451548;19946888;20301507;21906983;21963094;21988832;8125298 79796 H0YCW6;H0YEX8;H0YF48;Q9H6U8 AB096249;ABBA01039812;ABBA01039813;ABBA01039814;AF395532;AF454937;AK025498;AK172828;AK225261;AK298811;AK308025;AL136927;AMYH02025574;AP001781;BC009255;CH471065;DA257621;FP884232;KF511118;NG_009210;NM_001077690;NM_001077691;NM_001077692;NM_024740;XM_005277723;XM_005277724;XM_006718913 AAH09255;AAL25798;AAP97696;ABM83687;ABM86990;BAB15154;BAD18793;BAG60945;CAB66861;CAL37889;CAL38056;EAW67152;EAW67153;EAW67154;EAW67155;EAW67157;EAW67158;EAW67159;NP_001071158;NP_001071159;NP_001071160;NP_079016;Q9H6U8;XP_005277780;XP_005277781;XP_006718976 Hs.745155 1682577;1768725;2163236;5020414;5022578 D11S4552;D1S1423;G17582;L17688;RH92519 CDG1L;DIBD1;DKFZp586M2420;FLJ21845;LOH11CR1J OTTHUMP00000234195;OTTHUMP00000234196;alpha-1,2-mannosyltransferase ALG9;asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase);asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase);asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase);asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog;asparagine-linked glycosylation protein 9 homolog;disrupted in bipolar affective disorder 1;disrupted in bipolar disorder protein 1;dol-P-Man dependent alpha-1,2-mannosyltransferase;dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase;dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase;loss of heterozygosity, 11, chromosomal region 1 gene J product APPROVED protein-coding ENSG00000086848 HGNC:15672 09504 606941;608776 REVIEWED 1313512 ALG8 ALG8, alpha-1,3-glucosyltransferase This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 11 11 11 q14.1 75120467 75159160 - 77811988 77850699 - 78100942 78139660 - 1580863;6480464;6907045;7240710;8554872 11124703;12200473;12477932;12480927;14702039;15235028;15272470;15273506;15489334;16303743;16344560;19648040;20301507;20379614;21139048;21890473;21906983;21963094;21988832;22306853;24250222;24555185;7566098 79053 E9PK79;E9PKA5;E9PLP7;E9PNE2;E9PP04;E9PP80;E9PP96;E9PR58;H0YCV0;H0YD42;H0YDD3;H0YDQ1;H0YDV4;H0YEE0;Q9BVK2 AA375954;ABBA01017409;ABBA01017410;ABBA01017411;ABBA01017412;ABBA01017413;AJ224875;AK075184;AK075194;AK098614;AK125912;AK309050;AMYH02025146;AP002520;BC001133;BC017892;CH471076;DB362104;NG_008926;NM_001007027;NM_024079;XM_005274247;XR_428923 AAH01133;ACE87135;BAG52080;CAA12176;EAW75048;EAW75049;EAW75050;EAW75051;NP_001007028;NP_076984;Q9BVK2;XP_005274304 Hs.503368 1657250;5037552 D8S2279;STS-N35710 CDG1H;MGC2840 HUSSY-02;OTTHUMP00000233643;OTTHUMP00000233644;asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog;asparagine-linked glycosylation protein 8 homolog;dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase;dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase;dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase;dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase;dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,3-glucosyltransferase;probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase APPROVED protein-coding ENSG00000159063 HGNC:23161 10480 608103;608104 REVIEWED 1353820 ALK anaplastic lymphoma receptor tyrosine kinase This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011] 2 2 2 p23 29260042 29988141 - 29415640 30144477 - 29192774 29921611 - 1600902;1580863;6480464;7240710;8554872 15659732 10556217;10641597;11121404;11278720;11387242;11809760;11850821;11877285;11888936;11943732;12036886;12112524;12115586;12122009;12185581;12213716;12748172;12763927;12800156;14563642;14656879;14962911;14968112;15004538;15161657;15226403;15583856;15592455;15713979;15886198;15928040;15933425;15938644;16135792;16153455;16161041;16254137;16344560;16565220;16604305;16623783;16651537;16709933;16766651;16825495;16835382;16878150;16880530;17071493;17077326;17274988;17490616;17537995;17681947;17690253;17904822;17922009;17998938;18070884;18083107;18097461;18165268;18166835;18220322;18242762;18320074;18414414;18451166;18458503;18549625;18593892;18594010;18615104;18660380;18677384;18724359;18788887;18845790;18923523;18923524;18923525;18927303;18974134;18990089;19056867;19074885;19131589;19135051;19147828;19167335;19176054;19250532;19286999;19305144;19383809;19386350;19423729;19455469;19459784;19506219;19531656;19535344;19589272;19636007;19656549;19656550;19667264;19671850;19717436;19723661;19737969;19815557;19834503;19887368;20009909;20098747;20101209;20169312;20185586;20301782;20379614;20393185;20424160;20428197;20451371;20554525;20621063;20624322;20632993;20695522;20719933;20731666;20805506;20934803;20957039;20970119;21030459;21036415;21045017;21070126;21076462;21107285;21129606;21164297;21205076;21233286;21233844;21258247;21278610;21288922;21336183;21356191;21358343;21420271;21430068;21471522;21474455;21488949;21518927;21575866;21587085;21596819;21625996;21632861;21642865;21656749;21720997;21734404;21753699;21757253;21765024;21784300;21799923;21847065;21847362;21855164;21933749;21940108;21972109;21989914;22071784;22071890;22080568;22085494;22086496;22124476;22129856;22134072;22135231;22157554;22184391;22203728;22249260;22280150;22282022;22286764;22317764;22327622;22327623;22334013;22334442;22385925;22439933;22471704;22484425;22569898;22570254;22646268;22705117;22726922;22736493;22743652;22743654;22748945;22773605;22781601;22810114;22892933;22895149;22932897;22939624;23020707;23050789;23064464;23070248;23084186;23092569;23104988;23139213;23154552;23205942;23289484;23291583;23307059;23335077;23338972;23344087;23360421;23379755;23401436;23407557;23407559;23434628;23453647;23484153;23486271;23490651;23495083;23523007;23536384;23561259;23568951;23574788;23625156;23639470;23661334;23664096;23664446;23669200;23669222;23683537;23716548;23729361;23730215;23743932;23751074;23769207;23774148;23777859;23797004;23814019;23851431;23867124;23887300;23919423;23922356;23922677;23932486;23951022;23975180;23991058;24060861;24129244;24149177;24192124;24200637;24218456;24228132;24276038;24277751;24288180;24293609;24300132;24346098;24388371;24415871;24419423;24442099;24462463;24475247;24478382;24509625;24613277;24613930;24648382;24698962;24698967;24706829;24775606;24778081;24830726;24878018;24885982;24888607;24982409;8122112;8633037;9053841;9174053;9490693;9819383 238 B6D4Y2;E7EPW7;H7BZ33;Q9UM73 AB209477;ABBA01045244;ABBA01045245;ABBA01045246;ABBA01045247;ABBA01045248;ABBA01045249;ABBA01045250;ABBA01045251;ABBA01045252;ABBA01045253;ABBA01045254;ABBA01045255;AC074096;AC093756;AC098874;AC106870;AC106899;AK296218;AMYH02003506;AMYH02003507;AMYH02003508;AMYH02003509;AMYH02003510;AMYH02003511;CH471053;DA455128;EU788003;EU788004;EU788005;EU788006;EU788007;EU788008;EU788009;EU788010;FJ838786;FJ838787;GM868985;GU128152;GU128153;GU128154;GU128155;GU128156;GU128157;JB025728;NG_009445;NM_004304;U62540;U66559 AAB71619;AAC51104;AAI56208;AAI57091;AAX76514;AAX88892;AAX93126;AAY15027;ACI47591;ACI47592;ACI47593;ACI47594;ACI47595;ACI47596;ACI47597;ACI47598;ACY79560;ACY79561;ACY79562;ACY79563;ACY79564;ACY79565;ACZ57900;ACZ57901;BAD92714;BAG58942;CAT16962;CCV20015;EAX00506;EAX00507;EAX00508;NP_004295;Q9UM73 Hs.654469 1298117;1298125;1340486;1646079;1679926;1694698;1696272;1703826;1707294;1710328;1718855;1724041;1726595;1756735;1760911;1764737;1770036;1784004;1784104;1787544;1857791;2140441;2165040;7184043;7184990 D2S146;D2S390;D2S405;FB8C12;G19150;G29204;G43539;G62530;RH119031;RH123131;RH70535;RH92401;SHGC-142979;SHGC-143855;SHGC-144661;SHGC-148322;SHGC-153445;SHGC-155671;SHGC-78963;SHGC-79251;SHGC-82409;SHGC-83664;WI-13310 CD246;NBLST3;TFG/ALK ALK tyrosine kinase receptor;CD246 antigen;OTTHUMP00000201048;anaplastic lymphoma kinase;anaplastic lymphoma kinase (ki-1);mutant anaplastic lymphoma kinase APPROVED protein-coding ENSG00000171094 HGNC:427 00104 105590;613014 REVIEWED 1318033 ALKBH1 alkB, alkylation repair homolog 1 (E. coli) This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 58177259 58212868 - 78138749 78174365 - 77672406 77708022 - 1580863;6480464 12477932;12508121;12594517;15489334;18163532;18603530;19959401;21906983;21956739;22872573;23577621;23825659;8600462 8846 G3V4M4;H0YJF3;Q13686;Q5XKL0 ABBA01030646;AC008044;AMYH02029577;BC015024;BC025787;BX537699;CH471061;NM_006020;X91992;XM_005268165 AAF01478;AAH15024;AAH25787;ABM84629;ABM92160;CAA63047;EAW81300;EAW81301;EAW81302;NP_006011;Q13686;XP_005268222 Hs.94542 2134774;2143566;2152596;5015881;5022450;5115304 D10S275;G35523;GDB:335751;RH46436;RH69686;STS-X91992 ABH;ABH1;ALKBH;alkB;hABH DNA lyase ABH1;DNA oxidative demethylase ALKBH1;OTTHUMP00000246383;alkb, alkylation repair homolog (e. coli);alkylated DNA repair protein alkB homolog 1;alkylation repair, alkB homolog;alpha-ketoglutarate-dependent dioxygenase ABH1 APPROVED protein-coding ENSG00000100601 HGNC:17911 605345 REVIEWED 1605008 ALKBH2 alkB, alkylation repair homolog 2 (E. coli) The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008] 12 12 12 q24.11 109149917 109155219 - 109525993 109531436 - 109088188 109093631 - 6480464 12477932;12486230;12594517;15146197;15489334;16174769;16341674;16344560;17207965;18270339;18432238;18519673;18775698;19290481;20042601;20525795;20661249;20714506;21139048;21155885;21510633;21890473;22079122;22659876;23000965;23258843;23279696;23972994;24816145 121642 F5GZZ0;F5H5X2;Q6NS38;S4R3T5 AB277859;ABBA01005060;ABBA01005061;AC011596;AI278638;AK309062;AMYH02027165;AY754389;BC070489;BM785502;BM790974;BM820131;BU623121;CH471054;CN421655;CQ786763;DA182735;NM_001001655;NM_001145374;NM_001145375;NM_001205179;NM_001205180;XM_005253835;XM_005253836 AAH70489;AAV28301;ADQ32022;BAF56576;CAG17897;EAW97845;NP_001001655;NP_001138846;NP_001138847;NP_001192108;NP_001192109;Q6NS38;XP_005253892;XP_005253893 Hs.374458 1646315;1772394;2140868;2165930 D20S1119;RH45951;STS-D60111;WI-20815 ABH2;FLJ99103;MGC90512 2OG-Fe(II) oxy DC1;DNA oxidative demethylase ALKBH2;OTTHUMP00000240521;OTTHUMP00000240522;alkylated DNA repair protein alkB homolog 2;alpha-ketoglutarate-dependent dioxygenase alkB homolog 2;oxy DC1 APPROVED protein-coding ENSG00000189046 HGNC:32487 14712 610602 VALIDATED 1318803 ALG6 ALG6, alpha-1,3-glucosyltransferase This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008] 1 1 1 p31.3 62122929 62193888 + 63833261 63904233 + 63367590 63438562 + 1580863;6480464;6907045;7240710;8554872;8699517 10359825;10914684;10924277;11106564;11134235;11558905;11875054;12200473;12357336;12477932;12878157;14517965;14702039;15489334;16321363;16710414;19946888;20301507;21899441;9710431;9789065 29929 A2A2G4;Q9Y672;R4GMS5;S4R350 ABBA01074570;ABBA01074571;ABBA01074572;ABBA01074573;AF063604;AF102851;AI479334;AK022700;AK295286;AL049636;AL592218;AMYH02001152;AMYH02001153;AU280221;BC001253;BI819904;CB215801;CH471059;NG_008925;NM_013339;XM_005270788 AAD41466;AAG43163;AAH01253;BAG51104;BAG58270;EAX06571;EAX06572;EAX06573;EAX06574;NP_037471;Q9Y672;XP_005270845 Hs.258501 2109033;2128959;2140778;2148327;2191629 ALG6_9608;G16184;MARC_31587-31588:1062527482:1;RH68218;SHGC-34347 CDG1C Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase;OTTHUMP00000010712;OTTHUMP00000161018;asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog;asparagine-linked glycosylation protein 6 homolog;dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase;dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase;dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase;dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase;dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase APPROVED protein-coding ENSG00000088035 HGNC:23157 05194 603147;604566 REVIEWED 1606677 ALKBH3 alkB, alkylation repair homolog 3 (E. coli) The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008] 11 11 11 p11.2 44048227 44087676 + 43902357 43941825 + 43880807 43920275 + 6480464 12477932;12486230;12594517;14702039;15489334;16174769;16344560;16858410;17968469;18029348;18854154;20525795;20714506;20970119;21285982;22055184;22515525;22826605;22850567;23602568;8570611 221120 E9PN35;E9PRD0;E9PRJ2;E9PSA5;H0YDH4;Q96Q83 AB042029;ABBA01060774;AC087521;AK125602;AK315266;AMYH02024680;AX119039;BC015155;BC067257;BC103812;BC103813;BC103814;CD364334;CH471064;CQ786761;DA685031;DQ196343;NM_139178;U38442 AAH15155;AAH67257;AAI03813;AAI03814;AAI03815;ABA27096;BAB70508;CAC38593;CAG17896;EAW68078;EAW68079;NP_631917;Q96Q83 Hs.720708 1667163;1776050;2122138 RH16415;RH48832;SGC33963 ABH3;DEPC-1;DEPC1;FLJ43614;MGC118790;MGC118792;MGC118793;PCA1 OTTHUMP00000232849;OTTHUMP00000232859;alkylated DNA repair protein alkB homolog 3;alpha-ketoglutarate-dependent dioxygenase alkB homolog 3;prostate cancer antigen 1;prostate cancer antigen-1 APPROVED protein-coding ENSG00000166199 HGNC:30141 16793 610603 VALIDATED 1314369 ALG3 ALG3, alpha-1,3- mannosyltransferase This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 3 3 3 q27.1 182400881 182408077 - 183960117 183967313 - 184242329 184249525 - 1580863;6480464;6907045;7240710;8554872;8699517 1058125;10581255;12477932;15108280;15272470;15273506;15489334;16006436;20301507;21139048;21890473;21906983;21963094;22472876;22505724;23791010;8552211 10195 B4DS50;C9J7S5;F8WE30;F8WF93;H7BZZ2;H7C0X4;Q92685 ABBA01058452;AC061705;AK289361;AK297701;AK299575;AMYH02008305;AW297350;BC002839;BC004313;BC021062;BM920198;BX339649;CH471052;CX761434;HC894865;NG_008924;NM_001006941;NM_005787;NR_024533;NR_024534;Y09022 AAH02839;AAH04313;ABM84086;ABM87455;BAF82050;BAG60059;BAG61512;CAA70220;CBN61874;EAW78282;EAW78283;NP_001006942;NP_005778;Q92685 Hs.478481 1709114;1771576;2146651 D3S2399;RH118405;SHGC-85715 CDG1D;CDGS4;D16Ertd36e;NOT56L;Not56 Not56-like protein;OTTHUMP00000210704;OTTHUMP00000210705;OTTHUMP00000210706;OTTHUMP00000210710;asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog;asparagine-linked glycosylation protein 3 homolog;carbohydrate deficient glycoprotein syndrome type IV;dol-P-Man dependent alpha(1-3)-mannosyltransferase;dol-P-Man dependent alpha-1,3- mannosyltransferase;dol-P-Man-dependent alpha(1-3)-mannosyltransferase;dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase;dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase;dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase APPROVED protein-coding ENSG00000214160 HGNC:23056 03067 601110;608750 REVIEWED 7253275 ALKBH3-AS1 ALKBH3 antisense RNA 1 11 11 11 44076710 44088327 - 43930839 43942494 - 43909289 43920944 - 14702039 100507300 ABBA01060774;AC087521;AI208428;AI376587;AK097541;AMYH02024680;BI827816;HG503723;HG503724;HG503725;NR_038907 Hs.664588 1667163;1763239;1776050;2122138 RH16415;RH48832;SGC33963;SHGC-146967 RP11-613D13.7 ncrna ENSG00000244926 HGNC:48670 VALIDATED 1602194 ALKBH8 alkB, alkylation repair homolog 8 (E. coli) ENCODES a protein that exhibits tRNA (uracil) methyltransferase activity; INVOLVED IN cellular response to DNA damage stimulus; tRNA methylation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol; nucleus; INTERACTS WITH 5-fluorouracil; valproic acid; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 11 11 11 q22.3 104528270 104591267 - 107373453 107436468 - 107502727 107565742 - 6480464;8554872 12477932;14702039;17207965;18029348;18187620;19293182;20123966;20308323;21285950;24262325 91801 C9JQN2;Q96BT7 AB218768;ABBA01039880;ABBA01039881;AF086489;AK095523;AK293603;AK298800;AK304413;AMYH02025531;AP001823;BC015183;BX649085;CH471065;NM_001301010;NM_138775;XM_005271727;XM_005271728;XM_005271729;XM_005271730;XM_005271732;XM_006718942 AAH15183;ADQ31655;BAC04566;BAG16270;BAG57067;BAG60935;BAG65244;EAW67088;EAW67089;EAW67090;NP_001287939;NP_620130;Q96BT7;XP_005271784;XP_005271785;XP_005271786;XP_005271787;XP_005271789;XP_006719005 Hs.503763 1680302;1739187;1748347;2168522;2176174 D11S3957;D11S4571;G17588;G66900;RH93706 ABH8;FLJ38204;MGC10235 AlkB homologue 8;OTTHUMP00000211286;OTTHUMP00000211287;OTTHUMP00000232587;S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8;alkylated DNA repair protein alkB homolog 8;probable alpha-ketoglutarate-dependent dioxygenase ABH8;tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8 protein-coding ENSG00000137760 HGNC:25189 14287 613306 VALIDATED 1352016 ALKBH7 alkB, alkylation repair homolog 7 (E. coli) ENCODES a protein that exhibits dioxygenase activity (inferred); metal ion binding (inferred); INVOLVED IN cellular response to DNA damage stimulus; regulation of mitochondrial membrane permeability involved in programmed necrotic cell death; fatty acid metabolic process (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrial matrix; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 19 19 19 p13.3 6311231 6314048 + 6372444 6375261 + 6372433 6375250 + 737633;6480464;8554872 12477932 12975309;15489334;21182205;21832049;23666923;8125298 84266 M0QZH2;M0QZI0;Q9BT30 ABBA01055961;AC011491;AK223336;AK311956;AMYH02035351;AY358858;AY427650;BC004393;BM271861;BX334356;CH471139;NM_032306;XM_005259658 AAH04393;AAQ89217;AAR24624;BAD97056;BAG34896;EAW69102;NP_115682;Q9BT30;XP_005259715 Hs.111099 1684511;2159914 RH65607;RH93760 ABH7;MGC10974;SPATA11;UNQ6002 alkylated DNA repair protein alkB homolog 7;alpha-ketoglutarate-dependent dioxygenase alkB homolog 7;alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial;probable alpha-ketoglutarate-dependent dioxygenase ABH7;spermatogenesis associated 11;spermatogenesis cell proliferation related protein;spermatogenesis cell proliferation-related protein;spermatogenesis-associated protein 11 protein-coding ENSG00000125652 HGNC:21306 15425 613305 VALIDATED 1603209 ALKBH5 AlkB family member 5, RNA demethylase ENCODES a protein that exhibits oxidative RNA demethylase activity; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors; poly(A) RNA binding; INVOLVED IN mRNA export from nucleus; mRNA processing; oxidative single-stranded RNA demethylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN nuclear speck; nucleus; INTERACTS WITH cobalt dichloride; formaldehyde; methyl methanesulfonate 17 17 17 p11.2 19028003 19054331 + 18086867 18113268 + 18183553 18209954 + 6480464;8554872 11997338;12477932;14702039;15489334;19322201;21139048;21264265;21890473;22113938;23177736;23251661;24163370;24250222;24489119;24616105;24778178;24816145;8889548 54890 K7ER58;Q6P6C2 ABBA01009738;AC087164;AC109515;AK000129;AK000315;AK025817;AK301107;AK311161;AK311511;AL137263;AMYH02033109;BC062339;BI823385;BU740432;CH471196;KC877644;NM_017758 AAH62339;BAA91078;BAG62706;EAW55661;EAW55662;NP_060228;Q6P6C2 Hs.744130 1676238;1732125;2175916 D17S976;RH75515;STS-H01962 ABH5;FLJ20308;OFOXD1 OFOXD;OTTHUMP00000065701;RNA demethylase ALKBH5;alkB, alkylation repair homolog 5;alkylated DNA repair protein alkB homolog 5;alpha-ketoglutarate-dependent dioxygenase alkB homolog 5;oxoglutarate and iron-dependent oxygenase domain containing;probable alpha-ketoglutarate-dependent dioxygenase ABH5 APPROVED protein-coding ENSG00000091542 HGNC:25996 08621 613303 VALIDATED 1603303 ALKBH4 alkB, alkylation repair homolog 4 (E. coli) ENCODES a protein that exhibits actin binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors; INVOLVED IN actomyosin structure organization; cleavage furrow ingression; protein demethylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN contractile ring; midbody; INTERACTS WITH copper atom; copper(0); copper(2+) sulfate 7 7 7 q22.1 97108971 97117656 - 102096667 102105321 - 102456220 102464874 - 6480464;8554872 12477932;14702039;15489334;17207965;17979886;18029348;21166655;23145062;23673617;24250222;24816145;8125298 54784 Q9NXW9 ABBA01011281;ABBA01011282;AC093668;AC244503;AK000020;AK026097;AK222689;AMYH02016437;AMYH02016438;BC002820;BC017096;BX353099;CA420615;CH471197;CS300642;NM_017621;XM_005250464;XM_005250465 AAH02820;AAH17096;ADQ31831;BAA90888;BAB15358;BAD96409;CAK32306;EAW50249;NP_060091;Q9NXW9;XP_005250521;XP_005250522 Hs.658598 5014467 GDB:313557 ABH4;FLJ20013 OTTHUMP00000212413;alkylated DNA repair protein alkB homolog 4;alpha-ketoglutarate-dependent dioxygenase alkB homolog 4;probable alpha-ketoglutarate-dependent dioxygenase ABH4 protein-coding ENSG00000160993 HGNC:21900 07875 613302 VALIDATED 1605913 ALKBH6 alkB, alkylation repair homolog 6 (E. coli) ENCODES a protein that exhibits metal ion binding (inferred); oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH disodium selenite; methyl methanesulfonate; valproic acid 19 19 19 q13.12 33214202 33219321 - 36500022 36505145 - 36009120 36014243 - 6480464 12477932;8889548 84964 B2RAE0;E9PI76;H0YD66;H0YD83;H0YDL7;H0YEC4;H0YEM5;Q3KRA9;S4R3C7 AB273714;ABBA01018777;AC002116;AK304805;AK310130;AK310704;AK314150;AK315894;AMYH02035999;BC007601;BC036061;BC105801;BM713594;BQ447659;BU963363;NM_001297701;NM_032878;NM_198867;XM_005259357;XM_005259358;XM_005259359;XM_005259360;XM_006723449 AAI05802;BAF63844;BAF98785;BAG36837;BAG65555;NP_001284630;NP_116267;NP_942567;Q3KRA9;XP_005259414;XP_005259415;XP_005259416;XP_005259417;XP_006723512 Hs.71941 1670380;2110321;2153649;2161210;2169509;5015619 CLIPR-59__4586;D11S3114;D19S673E;RH12731;RH48333;WI-15016 ABH6;MGC15677 OTTHUMP00000045817;OTTHUMP00000180599;OTTHUMP00000233159;OTTHUMP00000233160;alkylated DNA repair protein alkB homolog 6;alkylation repair homolog 6;alpha-ketoglutarate-dependent dioxygenase alkB homolog 6;probable alpha-ketoglutarate-dependent dioxygenase ABH6 protein-coding ENSG00000239382 HGNC:28243 17510 613304 VALIDATED 1323128 ALMS1 Alstrom syndrome 1 This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014] 2 2 2 p13 73463729 73687908 + 73612886 73837047 + 73385758 73609919 + 1601169;1580863;1576431;6480464;7240710;8696013;8554872;8696017;8696014;8699517;8696015;8696016;8696018 11941369;15855349;16000322;16513793;16601972;16720663;22876109;24049434 10598815;11941370;12168954;12221128;12421765;12477932;12827243;14646408;14654843;15489334;15815621;17206865;17594715;17850632;17954613;18029348;18506366;19091203;19283855;19913121;20301444;20379614;20381594;20383145;20383146;20628086;20801516;20844083;21139048;21541333;21877133;21886157;21901789;21906983;21931564;21963094;22190034;22447358;22505724;22693585;22895009;22990118;23445176;23602568;23934736;24122612;24255178;24319333;24778252;7790358;9063741;9205841;9921899 7840 H7C1D9;Q8TCU4 AB002326;ABBA01075580;ABBA01075581;ABBA01075582;AC074008;AC092653;AC096546;AJ417593;AL832273;AL833495;AMYH02004072;AMYH02004073;AMYH02004074;AX751581;BC035025;BC050330;BX647706;BX648632;CH471053;EF151141;KF573641;NG_011690;NM_015120 AAH35025;AAH50330;AAX82023;AAY24208;ABL96615;BAA20786;CAD10391;CAE11759;EAW99728;EAW99729;EAW99730;EAW99731;NP_055935;Q8TCU4 Hs.184720 1683697;1686712;1749491;1751141;1774323;1848694;2120518;2133151 D2S2065;D2S2608;D2S2696;RH12381;RH45615;RH98437;SHGC-105060;SHGC-111206 ALSS;DKFZp686A118;DKFZp686D1828;KIAA0328 Alstrom syndrome protein 1;OTTHUMP00000202344;OTTHUMP00000202401 APPROVED protein-coding ENSG00000116127 HGNC:428 06023 203800;606844 REVIEWED 6481119 ALMS1-IT1 ALMS1 intronic transcript 1 (non-protein coding) 2 p13.1 73457103 73459482 + 100874291 ABBA01075580;AC074008;AMYH02004072;BC041487;NR_046762 Hs.668279 ncrna HGNC:41305 VALIDATED 736731 ALLC allantoicase Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008] 2 2 2 q35 3714865 3759339 + 3705786 3750261 + 3658196 3702671 + 1580863;6480464;6907045 11054555;12036579;12477932;15489334;15815621;16344560;23251661 55821 B4DY77;Q8N6M5 ABBA01006100;ABBA01006101;AC010907;AF215924;AF395820;AK302299;AMYH02003198;AMYH02003199;AMYH02003200;AMYH02003201;BC029652;BC035356;CH471053;DB054905;KF456624;NM_018436;XM_005263851;XM_006711891 AAF67097;AAH29652;AAH35356;AAK72970;AAY24236;BAG63639;EAX01050;EAX01051;NP_060906;Q8N6M5;XP_005263908;XP_006711954 Hs.97899 1678415;2175340 D18S1347;RH98402 ALC OTTHUMP00000200095;allantoate amidinohydrolase;probable allantoicase APPROVED protein-coding ENSG00000151360 HGNC:17377 10642 612396 VALIDATED 1606431 ALMS1P Alstrom syndrome 1 pseudogene INVOLVED IN endosomal transport (inferred); regulation of stress fiber assembly (inferred); INTERACTS WITH copper(2+) sulfate 2 2 2 p13.1 73722887 73763538 + 73872046 73912699 + 73644919 73685572 + 6480464 12477932;16344560;20383145;23535967 200420 Q96L16 ABBA01075584;AC092653;AK307160;AMYH02004074;AMYH02004075;BC014492;CH471053;DA427693;NR_003683 ABM83977;ABM87298;EAW99725;EAW99726;Q96L16 Hs.739204;Hs.745426 1696998;1765527;1796390;2170787 NAT8_959;RH101973;RH15629;SHGC-149003 ALMS1L pseudo ENSG00000163016 HGNC:29586 11245 VALIDATED 9587487 ALOX12-AS1 ALOX12 antisense RNA 1 17 17 6888442 6915678 - 6985123 7012334 - 100506713 ABBA01054842;ABBA01054843;ABBA01054844;ABBA01054845;AC040977;AK074580;AMYH02032881;AMYH02032882;BI559919;LN608631;NR_040089 Hs.422967 ncrna ENSG00000215067 HGNC:51342 VALIDATED 1322469 ALOX12 arachidonate 12-lipoxygenase ENCODES a protein that exhibits arachidonate 12-lipoxygenase activity; linoleate 13S-lipoxygenase activity; hepoxilin-epoxide hydrolase activity (ortholog); INVOLVED IN arachidonic acid metabolic process; cellular component movement; fatty acid oxidation; PARTICIPATES IN arachidonic acid metabolic pathway; lipoxygenase mediated pathway of arachidonic acid metabolism; ASSOCIATED WITH Albuminuria; Breast Neoplasms; Carcinoma, Renal Cell; FOUND IN cytoplasm; cytosol; extracellular vesicular exosome; INTERACTS WITH arachidonic acid; baicalein; benzene 17 17 17 p13.1 6924952 6939560 + 6899384 6914055 + 6996065 7010736 + 1578303;1580863;1578309;1578308;2313845;2313877;2313872;2313875;2315607;2315608;2315609;2315610;2315611;5509594;5509789;5509621;5509628;5509597;5509614;5509617;5509787;5509788;6480464;6907045 12432922;14532840;14654968;14669797;14767568;15518705;15623566;15896353;16118253;16445702;18640486;18780776;19103735;19282568;20554417;20978234;7511046;7624992;7679252;8304420;9500559 10446449;10727209;10760478;11914583;12394183;12477932;12538614;12664313;12664573;12664578;12731864;12858336;12907138;1447217;15010818;15105833;15107407;15111312;15142951;15305153;15308583;15474031;15489334;1570320;15729574;15797645;16118214;16482570;16514435;16598376;16638750;16788089;17045234;17151091;17192687;17236225;17379189;17460548;17520163;17893696;18086569;18155727;18187376;18504448;1851637;18547056;18676680;18755188;18992148;19046748;19056867;19170196;19328558;19423540;19469483;19625176;19663136;19692168;19885615;19913121;19948975;20061896;20089617;20181616;20382140;20406964;20431935;20438785;20453000;20570249;20592751;20626912;20628086;20653566;20697415;21085606;21094135;21104233;21127289;21225230;21945939;22089472;2217179;22237009;22275252;22323304;22384268;2244907;22668814;22825379;22864639;22895552;22924777;22980500;23079635;23526143;23528921;23578768;23715757;2377602;23784669;23828562;24686056;3406043;3926763;7868854;8250832;8319693;8641843;8912711;9082968;9751607 239 K7ENN9;P18054 ABBA01054844;ABBA01054845;AC040977;AF143883;AMYH02032881;AMYH02032882;AY527817;BC069557;CH471108;D12638;M35418;M58704;M62982;M87004;NM_000697;S68587;S68588;XM_005256588;XM_006721496;XM_006721497 AAA51533;AAA51587;AAA59523;AAA60056;AAD14020;AAD14021;AAD32700;AAH69557;AAS00094;BAA02162;EAW90281;NP_000688;P18054;XP_005256645;XP_006721559;XP_006721560 Hs.654431 1697340;1724417;1745453;1789727;1851250;2181972;2218986 ALOX12_4210;GDB:607713;RH102167;RH122370;SHGC-12725;WI-17813;csnpalox12-pcr1-1 12-LOX;12S-LOX;LOG12 12(S)-lipoxygenase;12S-lipoxygenase;OTTHUMP00000128281;arachidonate 12-lipoxygenase, 12S-type;lipoxin synthase 12-LO;platelet 12-LOX;platelet-type 12-lipoxygenase;platelet-type lipoxygenase 12 protein-coding ENSG00000108839 HGNC:429 01066 152391 VALIDATED 1606590 ALOX12P1 arachidonate 12-lipoxygenase pseudogene 1 17 17 17 q11 25718217 25730977 + 28856691 28869451 + 30529673 30542433 + 1570320 243 ABBA01015000;AC005562;AC011840;AMYH02033275;NG_000844 ALOX12P pseudo HGNC:431 INFERRED 1313295 ALOX12B arachidonate 12-lipoxygenase, 12R type This gene encodes an enzyme involved in the converstion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 8003604 8018665 - 7975954 7991021 - 8072636 8087703 - 1580863;1578309;6480464;6484113;6907045;7240710;8554872;8699517 12432922 10727209;11350124;11368351;11773004;12477932;12664578;14702039;15489334;15629692;17139268;17436029;17975119;18086569;18347291;19023099;19064572;19131948;19372141;19423540;19558494;19890349;20301593;20406964;20438785;21821891;22441738;22622417;23621129;23954555;24021977;9618483;9837935 242 O75342 ABBA01054895;AC129492;AF038461;AF059250;AJ305026;AJ305027;AMYH02032919;BC041058;CH471108;NG_007099;NM_001139 AAC39770;AAC79680;AAH41058;CAC34520;EAW90095;NP_001130;O75342 Hs.136574 12R-LOX;ARCI2 12R-lipoxygenase;OTTHUMP00000135320;arachidonate 12-lipoxygenase, 12R-type;epidermis-type lipoxygenase 12 APPROVED protein-coding ENSG00000179477 HGNC:430 04772 242100;603741 REVIEWED 1354244 ALOX12P2 arachidonate 12-lipoxygenase pseudogene 2 17 17 17 p13 6821120 6829473 + 6756895 6803668 + 6853576 6900349 + 6480464 12477932;1570320;24322204;9691181 245 ABBA01054838;AC027763;AF020774;AF020775;AL832768;AMYH02032877;AMYH02032878;AMYH02032879;BC041851;BU689660;DB019000;NR_002710;NR_120453 Hs.378695 5022200;5037552 D8S2279;L18426 ALOX12E;MGC43625 pseudo HGNC:432 VALIDATED 1352372 ALOX15 arachidonate 15-lipoxygenase ENCODES a protein that exhibits arachidonate 12-lipoxygenase activity; arachidonate 15-lipoxygenase activity; phosphatidylinositol-4,5-bisphosphate binding; INVOLVED IN arachidonic acid metabolic process; cellular response to calcium ion; cellular response to interleukin-13; PARTICIPATES IN interleukin-4 signaling pathway; atherosclerosis pathway; lipoxygenase mediated pathway of arachidonic acid metabolism; ASSOCIATED WITH Alzheimer Disease; Nasal Polyps; Acute Lung Injury (ortholog); FOUND IN cytosol; extrinsic component of cytoplasmic side of plasma membrane; lipid particle; INTERACTS WITH all-trans-retinoic acid; arachidonic acid; cis-caffeic acid 17 17 17 p13.3 4546922 4554338 - 4534214 4545583 - 4630919 4641665 - 1580863;70288;5509611;5509618;5509620;5509625;5509626;5509605;5509607;5128564;5509623;5509627;5509595;5509622;1642301;5509597;5509598;5509608;5509610;5509613;5509615;5509784;5509599;6480464;6484113;6907045;8554872 15111312;15328042;15708862;16497176;17384141;17940120;18206890;18635843;18692885;18941242;19546247;19628725;19675173;19752233;19787041;20167207;20554417;20570249;20724598;20967760;7967345;8117750 10200270;10464294;11023533;11196700;11278875;11475334;11861792;11956198;12084190;12477932;12664577;12664628;12731864;12748293;12907138;14643174;14757756;15194425;15459485;15489334;1566855;1570320;15838625;15879104;15912043;15967444;15996861;16000313;16179498;16320347;16357157;16556493;16598376;1662607;16820097;16847316;16997127;17043146;17052953;17164146;17227895;1729692;1733732;17344094;17439326;17520163;17652958;17662651;17711445;17959182;17991885;18029348;18067895;18090132;18180398;18187376;18198215;18227726;18239141;1825526;18392641;18547056;18647347;18676680;18684974;18692814;18755188;18774388;18785202;18799463;19046748;19089921;19130894;19131063;19131661;19170196;19198625;19296842;19325142;19423540;19429775;1944593;19453261;19469483;19481615;19497113;19528634;19568414;19576981;19625176;19663136;19692168;19752603;19775287;19913121;19942621;19948975;2010530;20308035;20382140;20406964;20438785;20485444;20592751;20628086;20649594;20668019;20676957;20861348;21094135;21544861;21558275;21771656;21831839;21881028;22037943;22078795;22089472;22094113;22210710;22275252;22301860;22351111;22472308;22516296;22652554;22750246;22825379;22879973;22960430;23066085;23079635;23181793;23249676;23285160;23404351;23474367;23528921;23828562;23838566;23844124;23872364;23958500;24742828;2719708;3202520;3202857;3356688;7961680;9224951;9414270;9700053;9822675;9931410 246 I3L175;P16050 ABBA01054771;ABBA01054772;AC118754;AK290309;AK296792;AK296821;AK296904;AK312557;AK316126;AMYH02032826;AY505111;BC029032;CH471108;M23892;M95923;NM_001140;U63384;U88317 AAA35482;AAA36182;AAB49305;AAC52118;AAH29032;AAR84235;BAF82998;BAG35454;BAH12431;BAH12437;BAH12452;BAH14497;EAW90427;EAW90428;NP_001131;P16050 Hs.73809 1660751;2128006;2190225;2190227;5022651 ALOX15-A611G;ALOX15-F4-R4;D11S2921;SHGC-35280;STS-U88317 12-LOX;15-LOX;15-LOX-1;15-LOX2;15LOX-1 12/15-lipoxygenase;15-lipooxygenase-1;OTTHUMP00000115936;arachidonate 12-lipoxygenase, leukocyte-type;arachidonate omega-6 lipoxygenase protein-coding ENSG00000161905 HGNC:433 01067 152392 VALIDATED 1345047 ALOX15P1 arachidonate 15-lipoxygenase pseudogene 1 17 17 17 6586307 6590535 + 6561038 6564701 + 6657719 6661382 + 11350124 100652883 ABBA01054837;AC004706;AMYH02032876;BG760841;DY655533;NR_045985 Hs.549540 ALOX15P APPROVED pseudo HGNC:13742 VALIDATED 731629 ALOX15B arachidonate 15-lipoxygenase, type B This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7969928 7980051 + 7942343 7952452 + 8039040 8049134 + 1580863;1578310;6480464;6907045 12432923 10542053;11350124;11839751;12477932;12659684;12704195;15247906;15342556;15489334;15698583;15797645;15799828;16556493;16682954;17139268;18067895;18156936;19064572;19423540;19645454;19661680;20406964;20428779;20438785;20668019;20677014;21316676;21900394;21951814;22078795;22939629;22980500;2318885;24376652;24497644;9177185 247 I3L1D5;O15296 ABBA01054895;AC129492;AF149095;AF468051;AF468052;AF468053;AF468054;AJ305028;AJ305029;AJ305030;AJ305031;AK292779;AK298095;AK300554;AMYH02032918;BC033294;BC035217;BC063647;BP327830;CA307212;CA405703;CH471108;NG_029482;NM_001039130;NM_001039131;NM_001141;U78294 AAB61706;AAD37786;AAH35217;AAH63647;AAL76274;AAL76275;AAL76276;AAL76277;ABM82271;ABW03380;BAF85468;BAG60380;BAG62260;CAC34521;EAW90097;EAW90098;EAW90099;EAW90100;EAW90101;EAW90102;NP_001034219;NP_001034220;NP_001132;O15296 Hs.111256 1736949;1762115;1793342 D17S561;PMC21017P1;SHGC-146014 15-LOX-2 15-LOX-B;15-lipoxygenase 2;15S-lipoxygenase;OTTHUMP00000135321;arachidonate 15-lipoxygenase 2;arachidonate 15-lipoxygenase B;arachidonate 15-lipoxygenase type II;arachidonate 15-lipoxygenase, second type;arachidonate omega(6) lipoxygenase;linoleate 13-lipoxygenase 15-LOb APPROVED protein-coding ENSG00000179593 HGNC:434 04739 603697 REVIEWED 4144232 ALOX15P2 arachidonate 15-lipoxygenase pseudogene 2 9 9 9 q22.31 66099611 66125646 + 95675441 95683839 + 92913159 92921557 + 642959 ABBA01018599;AL389924;AMYH02021227;NG_028727 1751823 SHGC-105834 pseudo HGNC:39027 INFERRED 732775 ALOX5 arachidonate 5-lipoxygenase This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 10 10 10 q11.2 41889257 41939521 + 45869624 45941569 + 45374176 45446119 + 734559;1331525;734558;734557;1580863;1626154;1626153;1626152;1300048;1578311;632195;1626150;1626151;2313910;2317527;2317529;2317531;2317535;2317536;2317521;2317523;2317524;2317522;2317525;2317533;4890414;4890432;4890435;4890413;4890422;4890423;4890433;4890410;4890411;4890419;4890430;4890415;4890434;4890418;4890420;4890421;4890407;4890429;4890405;4890417;4890408;5147463;5147462;5147467;5147465;6480464;6907045;7240710;8554872 10369259;10984370;11035107;11468001;11832453;11865407;12163367;12481414;12490039;12773506;12911785;1386887;14702425;14726295;14769366;15107407;15118671;15894604;16024599;16331105;16364163;16677242;17118201;17182931;17394438;17517102;18174194;18204779;18507031;1886988;19033731;19194548;19194550;19580807;19816089;19884440;20011686;20067482;20128419;20204486;20231413;8111595;8621765;8647941;8879219;9109363;9445303;9642160 10051563;10514459;10673219;10779545;11297527;11462800;11471199;11785969;11796736;11844797;12021253;12107604;12111389;12140292;12234060;12354292;12477932;12525578;12629151;12664574;12695552;12730086;12751728;12751768;12751769;12859962;12893830;12907138;14532840;14749922;14767568;15010818;15219851;15280375;15301234;15308583;1540191;15616590;15661803;15848143;15923196;15933245;16135563;16165096;16275640;16293801;16361798;16385451;16402861;16413224;16495221;16531984;16537708;16672272;16698924;16733792;16750418;16899822;16919603;16924104;17018618;17072961;17080223;17115186;17236225;17373700;17373938;17434678;17460547;17467166;17500032;17521309;17616938;17703412;17825794;17894944;17909879;17924829;18179798;18180307;18218859;18280718;18295198;18339529;18366797;18369664;18398223;18421027;18421434;18525291;18571838;18676680;18678882;18842779;18843019;18927292;18976020;18978352;18991687;18992148;18996667;19022417;19053751;19075240;19083497;19130089;19131661;19134178;19170196;19214143;19224689;19233132;19247692;19258923;19390118;1939225;19423540;19446447;19450127;19473080;19497113;19524426;19578796;19625176;19692168;19717473;19724895;19807693;19851296;19888660;19913121;19919819;19948975;20110601;20126469;20139978;20173757;20198315;20372792;20382140;20388081;20406964;20438785;20453000;20503287;20549218;20592751;20628086;20677014;20682687;21098726;21200133;21224059;21233389;21296957;21314617;21403093;21482803;21540635;21605700;21723968;21729626;21832049;21883892;22050225;22253131;22282663;22293202;22363630;22433003;2251250;22516296;22616993;22690932;22739369;22808264;22825379;23067353;23079278;23079635;23179791;23332172;23351835;23448388;23485709;23572152;23600541;23642263;23720274;23727898;23746795;23752617;23828562;24005813;24097068;24130502;24226420;24335295;24350867;24480307;2565035;2829172;3134355;3422434;7556168;7624354;7929073;8066098;8125298;8245774;8268460;8585605;9079648;9150468;9435249;9639560 240 P09917 AB208946;ABBA01050026;ABBA01050027;AK225603;AK315223;AL731567;AMYH02022735;AW403395;BC034464;BC040450;BC130332;BC132677;BC143985;BC143986;BM153780;BQ003253;CH471160;HM592258;HM592259;HM592260;HM592261;J03571;J03600;J04520;JQ728550;M38191;NG_011437;NM_000698;NM_001256153;NM_001256154 AAA36183;AAA59522;AAA63212;AAA65450;AAI30333;AAI32678;AAI43986;ADR30798;ADR30799;ADR30800;ADR30801;ADR83089;AFH78150;BAD92183;EAW86642;EAW86643;NP_000689;NP_001243082;NP_001243083;P09917 Hs.89499 1667193;1682027;1688642;1698404;2110253;2128207;2131506;2146763;2157950;2187215;5017485;5020274;5022615;5118686 ALOX5;ALOX5_4211;D10S1413;D11S2467;D11S3553;L18441;RH102744;RH17822;RH40180;RH79041;RH98891;SHGC-59903;SHGC-60141;WI-9162 5-LO;5-LOX;5LPG;LOG5;LOX-5;MGC163204 5-lipoxygenase;OTTHUMP00000019502;arachidonic 5-lipoxygenase alpha-10 isoform;arachidonic 5-lipoxygenase delta-10-13 isoform;arachidonic 5-lipoxygenase delta-13 isoform;arachidonic 5-lipoxygenase delta-p10 isoform;arachidonic acid 5-lipoxygenase;leukotriene A4 synthase APPROVED protein-coding ENSG00000012779 HGNC:435 01065 152390;600807 REVIEWED 736460 ALOX5AP arachidonate 5-lipoxygenase-activating protein This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011] 13 13 13 q12 12378644 12407516 + 31287615 31338565 + 30713478 30764428 + 1578317;1331525;1580863;632195;2313883;2313884;2313886;2313891;2313892;2313900;2313902;2313907;2311309;2313910;69749;2313931;2313895;2313903;2313905;2313913;2313888;734558;4890422;4890409;1626154;4890421;4890407;4890405;5147466;5147461;5147464;5147465;4890420;5147467;5147469;5147462;6480464;7240710;8554872 10527888;11035107;11468001;11865407;12490039;12911785;14733414;14770184;15118671;15784112;17379835;17517102;17922411;18258817;18506375;18547289;18591367;18843019;18945963;18959458;18977990;19046748;19288030;19364335;19373490;19596146;19596330;19749079;20067482;20128419;2300173;8647941;8879219;9445303;9642160 10036194;11090070;12477932;12571239;12629151;14702425;14749922;15057823;15489334;15593193;15640973;15731479;15861005;15876305;15886380;1588922;16127181;16144515;16282974;1673682;16778124;16939001;17304054;17387518;17460547;17505527;17600184;17627106;17655870;18084092;18318662;18323512;18366797;18369664;18374923;18398223;18398440;1857337;18775537;19126581;19130089;19131661;19166692;19233132;19336475;19361804;19417766;19423540;19450127;19524426;19622707;19729601;19946888;19948975;20014490;20194722;20357438;20369037;20376802;20379614;20406964;20438785;20485444;20592751;20810156;21153769;21199733;21227888;21675249;21816595;21893978;21988832;22051033;22074807;22129473;22206291;22537113;22726381;22849376;23076369;23404351;23546934;23738518;23765972;23828562;24025145;24148560;24183033;24905297;25010723;25034252;7938075;8049076;8071328;8245774;8440384;8703034;8777565;9435249 241 P20292 ABBA01035689;AK314143;AL512642;AMYH02027800;AY619687;BC018538;BG569867;BQ003388;CH471075;M60470;M63259;M63260;M63261;M63262;NG_011963;NM_001204406;NM_001629 AAA35845;AAH18538;AAT38104;ABM82573;ABM85762;EAX08467;NP_001191335;NP_001620;P20292 Hs.507658 1717711;1755397;1765595;2113416;2113470 D13S1772;D13S1800;RH121762;SHGC-142275;SHGC-149049 FLAP MK-886-binding protein;OTTHUMP00000018204;arachidonate 5-lipoxygenase activating protein APPROVED protein-coding ENSG00000132965 HGNC:436 04742 601367;603700 REVIEWED 1314765 ALOXE3 arachidonate lipoxygenase 3 This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 17 p13.1 8026859 8049862 - 7999218 8022365 - 8095900 8118916 - 1599073;1580863;6480464;7240710;8554872;8699517 11773004 11350124;12477932;12881489;14702039;15489334;15629692;16344560;17045234;17139268;17436029;19064572;19131948;19423540;19890349;20301593;20406964;20438785;20921226;20923767;21139048;21963094;22622417;23000965;23954555;24021977 59344 J3KPH2;Q9BYJ1 ABBA01054896;ABBA01054897;AC129492;AF182218;AJ269499;AJ305020;AJ305021;AJ305022;AJ305023;AJ305024;AJ305025;AK292732;AK296416;AK299742;AK313677;AMYH02032919;BC101938;BC101939;BC103508;BC104724;CH471108;DA183156;DC376381;NG_015807;NM_001165960;NM_021628;XM_005256745 AAG16899;AAI01939;AAI01940;AAI03509;AAI04725;BAF85421;BAG36428;BAH12346;BAH13114;CAC12843;CAC34518;EAW90093;EAW90094;NP_001159432;NP_067641;Q9BYJ1;XP_005256802 Hs.232770 1797276;2139449 ALOXE3_703.2;humtgkql ARCI3;E-LOX;MGC119694;MGC119695;MGC119696;eLOX-3;eLOX3 OTTHUMP00000135319;e-LOX-3;epidermal LOX-3;epidermal lipoxygenase;epidermis-type lipoxygenase 3;hydroperoxide isomerase ALOXE3 APPROVED protein-coding ENSG00000179148 HGNC:13743 06231 242100;606545;607206 REVIEWED 6777891 ALOXE3P1 arachidonate lipoxygenase 3 pseudogene 1 17 17 17 8002354 8003498 + 7974704 7975848 + 8071386 8072530 + 100420216 ABBA01054895;AC129492;AMYH02032919;NG_026215 1756139 SHGC-142949 pseudo HGNC:44238 INFERRED 737157 ALPI alkaline phosphatase, intestinal There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is upregulated during small intestinal epithelial cell differentiation. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 227085143 227089052 + 233320833 233325455 + 232456123 232460745 + 1580863;1300048;6480464;6907045 11352565;12372831;12466148;12477932;12577238;12660142;12919939;1321014;1458595;15143152;15302935;15715171;15774940;15831710;16344560;17139249;17353931;17498884;18292227;18307834;19322201;19407215;19786094;20489044;21963094;22262031;22783049;2841341;3443302;3458202;3468508;3469665;3687940;3697102;7482591;8240697;8449034;9755994 248 F8WEQ0;P09923 AA190871;ABBA01002020;AC068134;AK313163;AMYH02005986;BC132678;CH471063;DA925041;J03930;M15694;M21499;M31008;NM_001631;XR_241303;Y00512 AAA51703;AAA51704;AAA98617;AAI32679;AAY24089;BAG35981;CAA68564;EAW70997;EAW70998;NP_001622;P09923 Hs.37009 1741471;2218212;5119713 ALPI_4039;GDB:180439;GDB:181233 IAP Kasahara isozyme;OTTHUMP00000164357;alkaline phosphatase 1, intestinal, defined by ssr;alkaline phosphomonoesterase;glycerophosphatase;intestinal alkaline phosphatase;intestinal-type alkaline phosphatase APPROVED protein-coding ENSG00000163295 HGNC:437 01376 171740 REVIEWED 1343226 ALPK2 alpha-kinase 2 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 18 18 18 q21.31 52864790 53011746 - 56148479 56296189 - 58481247 58628957 - 6480464;8554872 10021370;14702039;19690890;21833088;21963094;22641666 115701 Q86TB3 ABBA01056149;ABBA01056150;ABBA01056151;ABBA01056152;ABBA01056153;AC104971;AC105105;AK092133;AK092194;AK125243;AL832018;AMYH02034809;AMYH02034810;AMYH02034811;AMYH02034812;AY044450;BX647446;BX647639;BX647796;CH471096;NM_052947;XM_005266646 AAI72418;AAK95952;BAC03812;CAD89922;EAW63077;NP_443179;Q86TB3;XP_005266703 Hs.628152 1644577;1655565;1679866;1783682;1851282 D18S881;G18021;RH99213;SHGC-145775;STS-R27572 FLJ34875;FLJ43253;HAK OTTHUMP00000163641;alpha-protein kinase 2;heart alpha-kinase;heart alpha-protein kinase protein-coding ENSG00000198796 HGNC:20565 11019 VALIDATED 1351787 ALPK1 alpha-kinase 1 This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 4 4 4 q25 110512576 110657856 + 113218480 113363774 + 112297326 112442618 + 1580863;6480464;8554872 10021370;10737800;10819331;12168954;12477932;14702039;15221005;15489334;15883161;16344560;20332099;21208416;21799462;21822924;22484627;22623531;22939624;23539754;23569188 80216 B3KUH8;B4E0R2;D6RB29;D6RDN6;Q96QP1 AB040960;AB075877;ABBA01063814;ABBA01063815;AC004049;AK026323;AK026715;AK091872;AK097246;AK131090;AK303489;AK304708;AMYH02009932;AY044164;BC028117;BC060780;BE155590;BX648798;CH471057;DB250317;KF457808;NM_001102406;NM_001253884;NM_025144;XM_005263245;XM_005263246;XM_005263247;XM_005263248;XM_006714326 AAK94675;BAA96051;BAB15444;BAC85140;BAD38659;BAG53440;BAG64524;BAG65473;EAX06274;EAX06275;EAX06276;NP_001095876;NP_001240813;NP_079420;Q96QP1;XP_005263302;XP_005263303;XP_005263304;XP_005263305;XP_006714389 Hs.652825 1643694;1647667;1676059;1689063;1695060;1708878;2170760;5024039 D16S325;D4S807;G34085;RH93680;RH98332;SHGC-23848;SHGC-23924;SHGC-83938 8430410J10Rik;FLJ22670;KIAA1527;LAK OTTHUMP00000163832;OTTHUMP00000219656;alpha-protein kinase 1;chromosome 4 kinase;lymphocyte alpha-kinase;lymphocyte alpha-protein kinase APPROVED protein-coding ENSG00000073331 HGNC:20917 09554 607347 VALIDATED 1344760 ALPK3 alpha-kinase 3 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN heart development (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (ortholog); INTERACTS WITH (+)-catechin; 17beta-estradiol; calcitriol 15 15 15 q25.2 61786084 61843035 + 85359911 85416713 + 84816680 84873482 + 1580863;6480464;8554872 10021370;10718198;11418590;12477932;14702039;22005931;23648065 57538 Q96L96 AB037751;ABBA01052949;ABBA01052950;AC012291;AC103741;AK022943;AK024829;AK026851;AK300484;AL109725;AL109780;AL365516;AL832372;AL833276;AL833288;AMYH02030958;AY044449;BC016870;BC040192;BC067284;CH471101;NM_020778 AAK95951;BAA92568;BAG62199;EAX01960;NP_065829;Q96L96 Hs.459183 1337137;1653156;1753893;1761463;2142948;2146209;2163347;2219928 A007D25;D15S653;MIDORI__6315;RH41993;SHGC-108121;SHGC-145472;STS-AA019539;WI-18039 FLJ12881;FLJ21176;KIAA1330;MAK MIDORI;OTTHUMP00000192892;alpha-protein kinase 3;muscle alpha-kinase;muscle alpha-protein kinase;myocyte induction differentiation originator protein-coding ENSG00000136383 HGNC:17574 11365 VALIDATED 1346147 ALPL alkaline phosphatase, liver/bone/kidney There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 1 1 1 p36.12 20158568 20227624 + 21835475 21904905 + 21508982 21578412 + 1599076;1580863;1601172;1601177;1601174;1601171;1601173;2315616;2315619;6480464;6907045;7240710;8554872;8699517 10547581;16197789;16249437;16336518;17010978;17403193;18288101;8406453 10094560;10332035;10508980;10679946;10690885;10737975;10834525;10865224;11073119;11438998;11479741;11528114;11745997;11760847;11810413;11834095;11855933;11999978;12357339;12372831;12397600;12412800;12477932;12638946;12788869;12815606;12920074;1321014;1409720;14517339;1458595;14702039;14756545;15135428;15146197;15208311;15230135;15248185;15476587;15489334;15562030;15629439;15660230;15694177;15824850;16014383;16210410;16344560;16583221;16602701;16681433;16893177;16932897;17023519;17043047;17195227;17229666;17242729;17253930;17395561;17516619;17563703;17719863;17922851;18029348;18037100;18158785;18160010;18328985;18422967;18455459;18469019;18496130;18500657;18523927;18572267;18579124;18605934;18665784;18724009;18769922;18940312;19012630;19056867;19084045;19303062;19335222;19419944;19423565;19453261;19500388;19631305;19641839;19729429;19744961;19751416;19751417;19856264;19860546;19874193;19884277;19888898;19931660;20048161;20139978;20175736;20231843;20301329;20345388;20355242;20379614;20558539;20634292;20809279;20828673;20888271;20924064;20977932;21168482;21179104;21191615;21289095;21402707;21419245;21558934;21713451;21886157;21956185;22001757;22024719;22154904;22167380;2220817;22211102;22228761;22268729;22300680;22395920;22569225;22656046;22672431;22702738;22703652;22994584;23039266;23124780;23149655;23223140;23328739;23419404;23427088;23432910;2346496;23509830;23612078;23648065;23791648;23897810;24022022;24094242;24151614;24276437;2928120;3165380;3174660;3410475;3446011;3532105;3954357;6933471;7509208;7833929;8954059;9020858;9192863;9747027;9781036;9814472;9823315;9844100 249 B1ANL0;P05186 AB011406;AB012643;AB209814;ABBA01059818;ABBA01059819;ABBA01059820;ABBA01059821;ABBA01059822;AK097413;AK293184;AK295608;AK298085;AK312667;AL359815;AL592309;AMYH02000454;AMYH02000455;AMYH02000456;BC021289;BC066116;BC090861;BC110909;BC126165;BC136325;CH471134;CN425768;D87874;D87875;D87876;D87877;D87878;D87879;D87880;D87881;D87882;D87883;D87884;D87885;D87886;D87887;D87888;D87889;DA574668;DA625627;DA631560;M24428;M24439;NG_008940;NM_000478;NM_001127501;NM_001177520;X53750;X95994;XM_005245818;XM_005245820;XM_006710546 AAB59378;AAH21289;AAH66116;AAH90861;AAI10910;AAI26166;AAI36326;ADR83041;BAA32129;BAA88367;BAD93051;BAG35549;BAH11467;BAH12123;BAH12722;EAW94974;EAW94975;EAW94976;EAW94977;NP_000469;NP_001120973;NP_001170991;P05186;XP_005245875;XP_005245877;XP_006710609 Hs.75431 1660672;1691342;1741221;1744681;2159435;2174494;5014063 AL009634;D15S1390;GDB:178682;GDB:549217;RH93776;SHGC-74342;SHGC-74343 AP-TNAP;FLJ40094;FLJ93059;HOPS;MGC161443;MGC167935;TNAP;TNSALP APTNAP;OTTHUMP00000002971;OTTHUMP00000002972;alkaline phosphatase liver/bone/kidney isozyme;alkaline phosphatase, tissue-nonspecific isozyme;alkaline phosphomonoesterase;glycerophosphatase;liver/bone/kidney-type alkaline phosphatase;tissue-nonspecific ALP APPROVED protein-coding ENSG00000162551 HGNC:438 01377 146300;171760;241500;241510 REVIEWED 1314395 ALPP alkaline phosphatase, placental There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme, also referred to as the heat stable form, that is expressed primarily in the placenta although it is closely related to the intestinal form of the enzyme as well as to the placental-like form. The coding sequence for this form of alkaline phosphatase is unique in that the 3' untranslated region contains multiple copies of an Alu family repeat. In addition, this gene is polymorphic and three common alleles (type 1, type 2 and type 3) for this form of alkaline phosphatase have been well characterized. [provided by RefSeq, Jul 2008] 2 2 2 q37 227007506 227011757 + 233243348 233247599 + 232378534 232382889 + 1580863;6480464;6907045 11124260;11278620;11352565;11857742;11937510;11938765;12081485;12372831;12477932;12493773;12616539;12851398;1321014;14595869;15489334;15715171;15815621;15907827;15946677;16303743;16344560;16431676;16815919;16893177;17000644;1730777;18416535;18752324;18775313;18802949;19450995;19570815;19574883;19595020;2017684;20299338;20360068;20655896;20663553;20693656;2133555;21516013;2153284;21692598;21868091;21910833;21939286;21963094;22190034;22268729;22333159;22641346;24019514;24043717;24296104;24332808;2891112;3001717;3042787;3422741;3443302;3459156;3461452;3512548;6651840 250 P05187 ABBA01002021;AC068134;AF217992;AK075432;AK312931;AMYH02005985;BC009647;BC068501;BC094743;CH471063;DA851165;HC006778;M12551;M13077;M14169;M14170;M19159;M19161;NG_012189;NM_001632;XM_005246439 AAA51705;AAA51706;AAA51708;AAA51709;AAA51710;AAC97139;AAH09647;AAH68501;AAH94743;AAY24087;BAG35774;CBH19195;EAW70991;NP_001623;P05187;XP_005246496 Hs.284255 1740959;1741473;1742941;1795354;2120652;5119713 A002R47;ALPP_38;GDB:176648;GDB:180439;GDB:181234;GDB:216786 ALP;FLJ61142;PALP;PLAP;PLAP-1 OTTHUMP00000164354;Regan isozyme;alkaline phosphatase Regan isozyme;alkaline phosphatase, placental (Regan isozyme);alkaline phosphatase, placental type;alkaline phosphomonoesterase;glycerophosphatase;placental alkaline phosphatase 1 APPROVED protein-coding ENSG00000163283 HGNC:439 171800 REVIEWED 1347925 ALPPL2 alkaline phosphatase, placental-like 2 There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008] 2 2 2 q37 227035760 227039632 + 233271552 233275424 + 232406842 232410714 + 1580863;6480464;6907045;8554872 10471145;11124260;11937510;12372831;12477932;15489334;15815621;1581814;16344560;16412386;17009260;1722150;1730777;2009524;20360068;2153284;2162249;2171580;21963094;2297757;23467613;2578098;2745460;2834730;2921344;3001717;3042787;3387245;3422741;3443302;3459156;3461452;3512548;3519002;3674755;6651840;6814793;7166303;9823315 251 P10696;Q9UIL6 AB012642;ABBA01002020;AC068134;AI982769;AK293017;AMYH02005985;BC014139;CH471063;CS223387;DB194270;J03252;J04948;M19160;NM_031313;X07247;X53279;X55958 AAA51700;AAA51707;AAA98616;AAH14139;AAY24088;BAA88366;BAF85706;CAA30232;CAA37374;CAA39425;CAJ46933;EAW70994;EAW70995;EAW70996;NP_112603;P10696 Hs.333509 1741473;1847238;5119713 D2S2633;GDB:180439;GDB:181234 ALP-1;ALPG;ALPPL;GCAP Nagao isozyme;OTTHUMP00000164356;PLAP-like;alkaline phosphatase Nagao isozyme;alkaline phosphatase, placental-like;germ cell alkaline phosphatase;placental alkaline phosphatase-like;placental-like alkaline phosphatase;testicular and thymus alkaline phosphatase APPROVED protein-coding ENSG00000163286 HGNC:441 01380 171810 REVIEWED 1346648 ALPPP alkaline phosphatase, pseudogene 11352565 260330 AF307337 HGNC:14016 1321241 ALS2 amyotrophic lateral sclerosis 2 (juvenile) The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 2 2 2 q33.1 196316786 196398012 - 202564986 202645895 - 201700263 201781172 - 1599080;1580863;6480464;6907045;7240710;8554872;8699517 11586297 10997877;11586298;11687798;12138710;12145748;12168954;12477932;12601111;12837691;12866199;12919135;14668431;14676054;14702039;14970233;15247254;15324660;15342556;15371724;15388334;15489334;15579468;16049005;16085057;16249884;16670179;17239822;17698795;17955197;18523452;18810511;19023603;19122027;20301421;20301623;20379614;21890473;21907703;23282280;23383273;24315819;24562058;8889548;9889004;9933298 57679 A8K4R4;B3KPJ0;H0Y696;J3KQ33;J3KQ43;Q96Q42 AB046783;AB053305;AB053306;ABBA01062545;AC007242;AC007279;AF391100;AK023024;AK056413;AK291029;AMYH02005550;BC029174;BC071576;BM560426;BM978733;BP348546;BU623061;CH471063;NG_008775;NM_001135745;NM_020919;XM_005246709;XM_005246710;XM_006712654;XM_006712655 AAH29174;AAH71576;AAL14103;AAX93181;AAY15058;BAB13389;BAB14362;BAB69014;BAB69015;BAF83718;BAG51702;EAW70291;EAW70292;EAW70293;NP_001129217;NP_065970;Q96Q42;XP_005246766;XP_005246767;XP_006712717;XP_006712718 Hs.471096;Hs.621812 1337671;1678379;1728835;1784008;1784312;2118911;2153186;2218988;5121733 ALS2__4284;D2S2309;G31879;G31881;G54487;RH12092;RH92914;SHGC-143239;SHGC-79895 ALS2CR6;ALSJ;FLJ31851;KIAA1563;MGC87187;PLSJ IAHSP;OTTHUMP00000205832;OTTHUMP00000206119;OTTHUMP00000206122;OTTHUMP00000224839;alsin;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein;amyotrophic lateral sclerosis 2 protein APPROVED protein-coding ENSG00000003393 HGNC:443 05893 205100;606352;606353;607225 REVIEWED 1605837 ALS2CL ALS2 C-terminal like ENCODES a protein that exhibits identical protein binding; INVOLVED IN endosome organization; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasmic membrane-bounded vesicle (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; calcitriol; copper(2+) sulfate 3 3 3 p21.31 46648229 46672945 - 46710485 46735194 - 46668995 46693704 - 6480464;8554872 12477932;14702039;15388334;16344560;17239822;20657180;21906983;23425335;8889548 259173 G5E9N5;H7C0M4;Q60I27 AB107015;ABBA01024712;AC104304;AC134504;AF235535;AK074118;AK092455;AK093844;AK096091;AK097225;AK126505;AK131270;AK131273;AL832132;AL832203;AL833107;AMYH02006673;BC042906;BC061883;BC075825;BC109233;BU685010;CH471055;CR627258;DA242202;DB350037;NM_001190707;NM_147129;NM_182775;NR_033815;XM_005265025;XM_006713088;XM_006713089;XM_006713090;XM_006713091;XM_006713092;XM_006713093;XM_006713094;XM_006713095;XM_006713096;XR_427263;XR_427264;XR_427265 AAH42906;AAH61883;AAH75825;AAI09234;AAI56526;AAI72558;AAK13665;BAB84944;BAC03895;BAC04237;BAC86572;BAD18448;BAD18450;BAD51817;CAH10367;EAW64775;EAW64776;EAW64777;EAW64778;EAW64779;EAW64780;NP_001177636;NP_667340;NP_877576;Q60I27;XP_005265082;XP_006713151;XP_006713152;XP_006713153;XP_006713154;XP_006713155;XP_006713156;XP_006713157;XP_006713158;XP_006713159 Hs.517937 1681290;1763889;2124449 RH98898;SHGC-147558;STS-N49393 DKFZp686P238;MGC129698;RN49018 ALS2 C-terminal-like protein;OTTHUMP00000158857;OTTHUMP00000209941;OTTHUMP00000209946 protein-coding ENSG00000178038 HGNC:20605 10643 612402 VALIDATED 1345082 ALS2CR11 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH pirinixic acid; bisphenol A (ortholog) 2 2 2 q33.1 196104082 196235806 - 202352144 202483905 - 201487232 201619182 - 6480464;8554872 11586298;11827452;12477932;14702039;15489334;15815621;16189514 151254 Q53TS8 AB053313;ABBA01062542;ABBA01062543;ABBA01062544;ABBA01062545;AC007282;AI754862;AK058080;AK097651;AL833429;AMYH02005549;AMYH02005550;BC030659;BE502681;BG701187;BG773299;BX648732;CH471063;DB525255;NM_001168216;NM_001168217;NM_001168221;NM_152525;XM_005246347;XM_006712331;XM_006712332;XM_006712333;XM_006712334;XM_006712335;XM_006712336;XR_427075 AAH30659;AAY14693;BAB69021;BAB71654;BAC05132;EAW70277;EAW70278;EAW70279;EAW70280;NP_001161688;NP_001161689;NP_001161693;NP_689738;Q53TS8;XP_005246404;XP_006712394;XP_006712395;XP_006712396;XP_006712397;XP_006712398;XP_006712399 Hs.335788 1659200;1728801;2113920;2119307;2127186;2138973;2165543 AB070072;D2S2731;G54441;RH15616;RH17492;RH46527;STS-N48800 DKFZp686H0636;FLJ25351;FLJ40332 OTTHUMP00000163728;OTTHUMP00000206610;OTTHUMP00000206611;OTTHUMP00000206612;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein protein-coding ENSG00000155754 HGNC:14438 08687 VALIDATED 1343894 ALS2CR12 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 FOUND IN outer dense fiber (inferred); sperm fibrous sheath (inferred); sperm flagellum (inferred); INTERACTS WITH cadmium atom; flutamide (ortholog); phenobarbital (ortholog) 2 2 2 q33.1 195904962 195973949 - 202153147 202222101 - 201288362 201357398 - 1580863;6480464 11586298;12477932;16189514;17207965;17474147;18649358;19060904;19692168;19773279;20379614;21048031;21983787;24390342;8889548 130540 A8K8B8;C9JTY0;C9JZS0;H7C1T5;Q96Q35 AB053314;ABBA01062539;AC007256;AK124115;AK292283;AMYH02005549;BC031603;BX095441;CA314586;CD703925;CH471063;DB034999;DB054409;NM_001127391;NM_001289993;NM_139163;NR_110620;XM_006712272;XM_006712273;XM_006712274;XM_006712275 AAH31603;AAY24226;ADQ31789;BAB69022;BAF84972;EAW70267;EAW70268;EAW70269;EAW70270;NP_001120863;NP_001276922;NP_631902;Q96Q35;XP_006712335;XP_006712336;XP_006712337;XP_006712338 Hs.107944 1700820;5123604 RH104035;RH16289 OTTHUMP00000163724;OTTHUMP00000163725;OTTHUMP00000206582;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein protein-coding ENSG00000155749 HGNC:14439 12444 VALIDATED 1353075 ALS2CR14 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14 11586298 65068 Q96Q33 AB053316;NM_178231 HGNC:14441 1314457 ALS2CR16 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16 q33.2 11586298;12477932;14702039 130029 AB053318;AC010900;AK130065;BC132950;BC137214;CR597362;XM_001134431;XM_001134454 AAI32951;AAI37215;BAB69026;BAC85289;Q6ZP36;XP_001134431;XP_001134454 Hs.604686;Hs.648846 MGC164581 protein-coding HGNC:14443 10644 1349713 ALS5 amyotrophic lateral sclerosis 5 ASSOCIATED WITH Amyotrophic Lateral Sclerosis 5 (inferred) 7240710 255 HGNC:446 602099 1343013 ALS3 amyotrophic lateral sclerosis 3 (autosomal dominant) ASSOCIATED WITH Amyotrophic Lateral Sclerosis 3 (inferred) 7240710 11706389 253 1334699;1336976 D18S1109;D18S846 HGNC:444 606640 1352384 ALX3 ALX homeobox 3 This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108849991 108860317 - 110602997 110613322 - 110060375 110070700 - 1580863;6480464;7240710;8554872;8699517 11807986;12477932;15226305;16825292;19409524;20634891;22082156;22106187;22496059;22589738;7991607 257 O95076 ABBA01068385;AF008202;AF008203;AL160006;AMYH02001719;AMYH02001720;BC112007;BC113428;CH471122;NG_012039;NM_006492 AAD01417;AAD01418;AAI12008;AAI13429;EAW56430;NP_006483;O95076 Hs.669953 2123174 SHGC-75288 FND;FND1;MGC138212;MGC141988 OTTHUMP00000013372;aristaless-like homeobox 3;frontonasal dysplasia;homeobox protein aristaless-like 3;proline-rich transcription factor ALX3 APPROVED protein-coding HGNC:449 16190 136760;606014 REVIEWED 732877 ALX1 ALX homeobox 1 The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008] 12 12 12 q21.31 85337491 85358941 + 85673713 85695562 + 85279930 85301784 + 734689;1580863;6480464;7240710;8699517;8554872 8673125 12477932;12929931;15489334;16189514;18029348;18976975;20398657;20451171;20932315;23288509;24081945;7592751;7690966;8756334;9753625;9847249 8092 Q15699;V9HWA7 ABBA01053444;ABBA01053445;AC127069;AC131532;AC133794;AJ558236;AMYH02026873;BC010923;CH471054;EU794597;NG_023202;NM_006982;U31986;XM_005269165 AAB08960;AAH10923;ACJ13651;CAD90155;EAW97398;NP_008913;Q15699;XP_005269222 Hs.41683 2129799;2163608;2219046 CART1__4510;RH68918;STS-N20106 CART-1;CART1;FND3;HEL23 ALX homeobox protein 1;OTTHUMP00000242207;cartilage paired-class homeoprotein 1;epididymis luminal protein 23 APPROVED protein-coding ENSG00000180318 HGNC:1494 03316 601527;613456 REVIEWED 1320963 ALX4 ALX homeobox 4 This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009] 11 11 11 p11.2 44429565 44479005 - 44282278 44331735 - 44260728 44310185 - 1580863;6480464;7240710;8554872;8699517 11017806;11106354;11137991;11347906;11696550;14702039;15852040;16319823;16415175;16582099;17293876;19336475;19692347;19783719;20140221;20211142;20301307;20625746;20634891;20879858;22496059;22829454;23401352;24037716;24165912;8558565;8644736;9847249 60529 Q9H161 AB058691;ABBA01060770;AC103854;AF294629;AF308825;AJ279074;AJ404888;AK092346;AMYH02024683;CH471064;NG_015809;NM_021926;XR_242817 AAG23961;AAI66622;AAK38835;BAB47417;CAC15060;CAC15120;EAW68066;NP_068745;Q9H161 Hs.436055 2168987 D11S2375 CRS5;FND2;FPP;KIAA1788;PFM;PFM1;PFM2 OTTHUMP00000233417;aristaless-like homeobox 4;homeobox protein aristaless-like 4;homeodomain transcription factor ALX4 APPROVED protein-coding ENSG00000052850 HGNC:450 05661 605420;609597;613451;615529 REVIEWED 1322669 ALYREF Aly/REF export factor The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 76449564 76453306 - 79845711 79849464 - 81887835 81891586 - 1580863;6480464 10488337;11032328;11118221;11546873;11546874;11675789;11707413;11979277;11991638;12176931;12226669;12438613;12477932;12944400;14667819;15047853;15489334;15782174;15833825;15998806;16196087;16210410;16314458;17190602;17196963;17229714;17609285;17620599;17643375;18029348;18243119;18562279;18974867;19056867;19110458;19165146;19264631;19322201;19369354;19553338;19586903;19710015;19738201;20000738;20015986;20360068;20431927;20981025;21139048;21145461;21282530;21329510;21799930;21890473;21906983;21907836;21963094;22053931;22145905;22178446;22268729;22446626;22505724;22586326;22623428;22761374;22939629;22952844;22990118;23000965;23084401;23125841;23151878;23222130;23242234;23297349;23398456;23443559;23463506;23637401;23826332;24250222;24457600;24550725;24583282;24816145;9119228;9731529;9952027 10189 E9PB61;Q86V81 ABBA01019651;AC137723;AC145207;AF047002;AF086513;AMYH02034143;BC052302;BU624466;CH471099;NM_005782;XM_005256333 AAD09608;AAH52302;ACE86440;ACE87115;EAW89699;NP_005773;Q86V81;XP_005256390 Hs.534385 1796770;2107829;2136473;2137863;2147142;2147438;2220396 ALY_7964;D17S723;RH44900;RH65274;RH65676;SIRT7_1731;UniSTS:481341 ALY;ALY/REF;BEF;REF;THOC4;tho4 OTTHUMP00000218275;THO complex 4;THO complex subunit 4;ally of AML-1 and LEF-1;bZIP enhancing factor;bZIP-enhancing factor BEF;transcriptional coactivator Aly/REF APPROVED protein-coding ENSG00000183684 HGNC:19071 09168 604171 REVIEWED 735888 AMACR alpha-methylacyl-CoA racemase This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011] 5 5 5 p13 33875521 33896657 - 33987091 34008220 - 33986986 34008115 - 1580863;2315628;2315635;2315632;2315633;2315629;2315630;6480464;6907045;7240710;8554872;8699517 14707866;15941950;16315020;18343427;18648853;20003233 10655068;10770938;11060344;11076863;11926890;11956072;12131161;12213712;12374981;12438241;12477932;12673556;12810662;14612535;14702039;14960364;15323145;15330799;15489336;15880524;15941951;16344560;16381901;16424894;16491480;16506014;16681682;16756494;17067752;17222253;17525630;17680641;17683075;17684125;18032455;18080842;18279392;18500268;18537123;18577240;18665038;18676680;18712414;18785113;18788852;18835622;19064571;19068396;19148275;19170196;19384190;19459159;19605815;19625176;19638170;19692168;20102405;20178365;20189848;20503447;20636793;20664974;20821052;20875727;20877624;20945498;21176184;21195844;21441411;21457159;21963094;22009118;22078291;22248277;22507319;22542076;22593005;22782380;23000965;23235347;23376124;23434146;23797726;24004067;24119561;24250222;24383053;24705308;7649182;8125298;9307041 23600 D6RB81;Q9UHK6;V9GYP4;V9GYU9;V9GZ45 AA969512;ABBA01066761;AC139783;AF047020;AF158378;AJ130733;AK000912;AK022765;AK222831;AK225749;AK292988;AL545355;AL571115;AMYH02011144;AY330488;AY330489;AY935981;BC009471;BG708726;BI550368;BQ941482;BT007193;CH471118;DA156454;EF560721;FJ498906;FJ498907;FJ498908;NG_016211;NM_001167595;NM_014324;NM_203382 AAD10205;AAF22610;AAH09471;AAP35857;AAQ67234;AAQ94259;AAY16192;ABQ59031;ACL67853;ACL67854;ACL67855;BAD96551;BAF85677;BAG50838;BAG51110;CAB44062;CAL37503;EAX10815;EAX10816;EAX10817;EAX10818;NP_001161067;NP_055139;NP_976316;Q9UHK6 Hs.508343 2116940;2137405;2217006 AMACR_3561;RH45195;WI-16117 CBAS4;RACE;RM 2-methylacyl-CoA racemase;AMACRD;OTTHUMP00000115916;OTTHUMP00000115917;OTTHUMP00000219978;OTTHUMP00000219979;OTTHUMP00000219980 APPROVED protein-coding ENSG00000242110 HGNC:451 05134 214950;604489;614307 REVIEWED 735479 AMBP alpha-1-microglobulin/bikunin precursor This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008] 9 9 9 q32-q33 87469703 87488044 - 116822407 116840752 - 114060127 114078472 - 1580863;6480464;6904148;6904149;6904147;6904155;6904143;6904156;6904142;6904219;6904218;8554872 14592616;14621078;15533056;15710155;16622176;17765145;18046670;19205372;8963945 10097787;10447938;10631976;10727951;10878892;11036097;11058759;11807786;11877257;11883904;12477932;12817471;1385302;14516400;14597629;14718574;15037615;15452109;15489334;15498571;15653696;16140784;16364318;16407257;16502470;16712791;16916777;1694784;1696200;1697852;1700638;1708673;17087727;17115277;17146627;1714898;17207965;17320766;17584166;17633530;17766242;17998887;18226914;18448433;18624398;18649735;1898736;19056867;19636634;19879940;19913121;19914646;20602574;20628086;20954860;21067798;21332340;21988832;22096585;22595828;22684072;23324582;23414180;23642167;23801333;23841057;23919851;24012674;2408638;24135868;2413856;2419908;24211404;2428011;2430261;2465147;2472935;2482577;3663330;3890890;6164372;6171497;6196366;6198962;72071;7506257;7513643;7519849;7528952;7533162;7535251;7682553;9183005;9472382;9566199;9570066;9671439 259 B7Z8R6;P02760;S4R3Y4;S4R471 ABBA01042678;AK290837;AK303795;AK310776;AK310791;AL137850;AMYH02021515;AY544123;BC041593;CB141734;CH471090;CS208015;HB867200;M11562;M88249;NM_001633;X04225;X04494;X53686;X54816;X54817;X54818 AAA59194;AAA59196;AAH41593;AAT11154;ADQ32920;BAF83526;BAH14052;CAA27803;CAA28182;CAA37726;CAA38585;CAA38586;CAA38587;CAJ44933;CBF57586;EAW87404;NP_001624;P02760 Hs.436911 1660986;2190831 AMBP;STS-M88249 A1M;EDC1;HCP;HI30;ITI;ITIL;UTI IATIL;ITILC;OTTHUMP00000021967;alpha 1 microglobulin/bikunin;alpha-1-microglobulin/bikunin;bikunin;complex-forming glycoprotein heterogeneous in charge;growth-inhibiting protein 19;inter-alpha-trypsin inhibitor light chain;protein HC;trypstatin;uristatin;uronic-acid-rich protein APPROVED protein-coding ENSG00000106927 HGNC:453 01467 176870 REVIEWED 736409 AMBN ameloblastin (enamel matrix protein) This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011] 4 4 4 q21 68816162 68831378 + 71457975 71473005 + 70592258 70607288 + 1580863;6480464;8554872 10634581;10946765;11054529;11330937;12477932;15342556;17331365;18353005;18781068;19661317;20043904;20831578;20854943;21149578;21761392;23782691;23790503;9032019;9126491 258 Q546D7;Q9NP70 ABBA01022930;ABBA01022931;AC134919;AF209780;AF219994;AF263464;AJ537437;AK314918;AMYH02009421;AY009116;AY009117;AY009118;AY009119;AY009120;AY009121;AY009122;AY009123;AY009124;BC106931;BC106932;BP248666;CH471057;NM_016519 AAF37355;AAF73048;AAG27036;AAG35772;AAI06932;AAI06933;BAG37429;CAD60938;EAX05623;EAX05624;NP_057603;Q9NP70 Hs.272396 2110255 AMBN_8200 OTTHUMP00000160362;OTTHUMP00000219136;ameloblastin APPROVED protein-coding ENSG00000178522 HGNC:452 03160 601259 REVIEWED 1348845 AMCD2B arthrogryposis multiplex congenita, distal, type 2B ASSOCIATED WITH Distal arthrogryposis type 2B (inferred) 7240710 9012416 8044 HGNC:455 601680 1604349 AMBRA1 autophagy/beclin-1 regulator 1 INVOLVED IN autophagy (inferred); cell differentiation (inferred); negative regulation of cell proliferation (inferred); FOUND IN cytoplasm; axoneme (ortholog); INTERACTS WITH copper(2+) sulfate; formaldehyde; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 p11.2 46566035 46760894 - 46417962 46615619 - 46396412 46594069 - 6480464 11214970;12107410;12477932;12938929;14702039;16196087;16344560;16949367;17589504;17603510;17622796;19295130;19615732;20360068;20562859;20694011;20711182;20921139;21139048;21145461;21358617;21753002;21890473;21906983;21963094;21987572;22053931;22190034;22441670;22505724;22797925;23000965;23069654;23429496;23524951;23551272;23974797;24337577;24879156;24980959 55626 E9PL55;H0YE34;Q9C0C7 AB051523;ABBA01060737;ABBA01060738;ABBA01060739;ABBA01060740;ABBA01060741;ABBA01060742;ABBA01060743;ABBA01060744;ABBA01060745;ABBA01060746;AC024293;AC115097;AC116021;AC127035;AK000301;AK023197;AK057896;AK302808;AK304530;AL137611;AL834190;AMYH02024701;AMYH02024702;AMYH02024703;AMYH02024704;AMYH02024705;AMYH02024706;AMYH02024707;AMYH02024708;BC045609;BF589843;CA389399;CH471064;DB070055;DB232750;DQ870924;KC877408;KF455381;NM_001267782;NM_001267783;NM_001300731;NM_017749;XM_005253009;XM_005253011;XM_005253012;XM_005253014;XM_006718259;XM_006718260 AAH45609;ABI74670;BAA91067;BAB14457;BAB21827;BAG64009;BAG65331;EAW67996;EAW67997;EAW67998;EAW67999;EAW68000;EAW68001;EAW68002;NP_001254711;NP_001254712;NP_001287660;NP_060219;Q9C0C7;XP_005253066;XP_005253068;XP_005253069;XP_005253071;XP_006718322;XP_006718323 Hs.654644 1655402;1655404;1666386;1677340;1683882;1705770;1726737;1731535;2110977;2127503;2147119;5022200 A001T07;D11S1252;D11S1271E;G19616;G30960;G62756;L18426;RH28603;RH28670;RH48957;SHGC-78672;WI-14603 DCAF3;FLJ20294;KIAA1736;MGC33725;WDR94 DDB1 and CUL4 associated factor 3;OTTHUMP00000233089;OTTHUMP00000233090;OTTHUMP00000233091;OTTHUMP00000233092;OTTHUMP00000233133;WD repeat domain 94;activating molecule in BECN1-regulated autophagy protein 1;activating molecule in beclin-1-regulated autophagy protein-coding ENSG00000110497 HGNC:25990 10975 611359 VALIDATED 1343154 AMCN arthrogryposis multiplex congenita, neurogenic ASSOCIATED WITH Arthrogryposis multiplex congenita neurogenic type (inferred) 7240710 9345093 261 HGNC:456 208100 1351440 AMD1 adenosylmethionine decarboxylase 1 This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y. [provided by RefSeq, Dec 2013] 6 6 6 q21 111942595 111963525 + 111135823 111216916 + 110814621 110895713 + 1578320;1580863;6480464;6907045;7242911;7242912;7242932;7242425;7244193 10430362;10712236;13678416;1415709;2292587;23073625 10029540;10378277;10570962;10574985;10829027;11583147;11583148;11741992;12477932;12600205;1400498;14574404;14718534;1527020;15489334;15521072;16344560;16941339;17069747;17259861;18548481;19053272;19161160;1917972;19322201;19527050;19661236;20215859;20615890;21134486;21139048;21890473;21906983;22008221;22496743;23260169;2460457;2687270;7634128;7789170;8027046;8353934;8416975 262 A6NNH3;B4DZ60;P17707;Q5VXN5;Q6N0B2 AA808049;ABBA01026103;ABBA01026104;ABBA01026105;ABBA01026106;ABBA01026107;AJ420527;AJ420567;AK026205;AK125644;AK130474;AK300330;AK302761;AK304351;AK316471;AL357515;AL365206;AL832698;AMYH02014291;AMYH02014292;AMYH02014293;AMYH02014294;AU134914;BC000171;BC041345;BX640599;CH471051;M21154;M88003;M88004;M88005;M88006;NM_001287214;NM_001287215;NM_001287216;NM_001634;NR_109768;S47803;Z84480 AAA51716;AAD14903;AAH00171;ABM85036;BAG62078;BAG63972;BAG65194;BAH14842;CAE45705;CAI46113;EAW48307;EAW48308;EAW48309;NP_001274143;NP_001274144;NP_001274145;NP_001625;P17707 Hs.159118 1687103;1702412;2150560;2157342;2166495;2187495;5016903;5037552;5109281 D1S1425;D6S2429;D8S2279;GDB:192496;RH46508;RH46760;RH46841;RH98425;SGC30337 AMD;DKFZp313L1234;FLJ26964;SAMDC ADOMETDC;OTTHUMP00000017012;OTTHUMP00000017013;OTTHUMP00000017014;S-adenosylmethionine decarboxylase 1;S-adenosylmethionine decarboxylase proenzyme APPROVED protein-coding ENSG00000123505 HGNC:457 01622 180980 REVIEWED 7204927 AMD1P1 adenosylmethionine decarboxylase 1 pseudogene 1 10 10 10 p12.31 20325076 20326124 + 20638981 20640029 + 20350052 20351100 + 100133024 ABBA01034509;AL353790;AMYH02022407;NG_022164 1340630 D10S595 pseudo HGNC:44898 INFERRED 1603049 AMDHD2 amidohydrolase domain containing 2 ENCODES a protein that exhibits N-acetylglucosamine-6-phosphate deacetylase activity; INVOLVED IN carbohydrate metabolic process (inferred); metabolic process (inferred); N-acetylglucosamine metabolic process (inferred); PARTICIPATES IN amino sugar metabolic pathway; nucleotide sugar metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH benzene; cadmium atom; copper(2+) sulfate 16 16 16 p13.3 2785299 2795891 + 2570363 2580955 + 2520362 2530954 + 6480464;6907045;8554872 10810093;12477932;15146197;18854154;21139048;21906983;24816145 51005 H3BSD5;H3BSV9;H3BT49;H3BTE3;H3BTZ6;Q9Y303 AB209351;ABBA01030250;ABBA01030251;AC093525;AF132948;AK296877;AK300747;AMYH02031254;BC018734;CH471112;CN362870;HB969100;HD026510;NM_001145815;NM_015944 AAD27723;AAH18734;BAD92588;BAG59439;BAG62416;CBG19170;CBV32525;EAW85498;EAW85499;EAW85500;NP_001139287;NP_057028;Q9Y303 Hs.740430 1850979;1854241;2166956;5020988;5022578;5022651 D11S2921;D1S1423;D22S958;RH66735;SHGC-61364;STS-AA004808 CGI-14 OTTHUMP00000159090;amidohydrolase domain-containing protein 2;glcNAc 6-P deacetylase;putative N-acetylglucosamine-6-phosphate deacetylase protein-coding ENSG00000162066 HGNC:24262 13034 VALIDATED 1347122 AMDM acromesomelic dysplasia, Maroteaux type ASSOCIATED WITH Acromesomelic dysplasia, Maroteaux type (inferred) 7240710 9634515 264 HGNC:459 602875;615923 1603900 AMDHD1 amidohydrolase domain containing 1 ENCODES a protein that exhibits hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (inferred); imidazolonepropionase activity (inferred); metal ion binding (inferred); INVOLVED IN cellular nitrogen compound metabolic process (inferred); histidine catabolic process (inferred); histidine catabolic process to glutamate and formamide (inferred); PARTICIPATES IN histidine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; copper(2+) sulfate 12 12 12 q23.1 96005967 96028689 + 96337071 96362370 + 95943293 95968592 + 6480464;6907045;8554872 12477932;14702039;15221005;15489334;20379614;21906983 144193 B3KVC5;H0YI62;Q96NU7 AB075878;ABBA01053320;AC126174;AK054617;AK122802;AK290828;AL833144;AMYH02026991;AMYH02026992;AMYH02026993;BC029146;CH471054;NM_152435 AAH29146;ADZ15926;BAB70775;BAD38660;BAF83517;BAG53737;EAW97552;EAW97553;NP_689648;Q96NU7 Hs.424907 2109511 MGC35366__7713 HMFT1272;MGC35366 OTTHUMP00000243559;amidohydrolase domain-containing protein 1;probable imidazolonepropionase protein-coding ENSG00000139344 HGNC:28577 14605 VALIDATED 1350121 AMDP1 adenosylmethionine decarboxylase pseudogene 1 X X;Y X;Y q28 and Yq12 155214191 155215759 - 155057756 155059324 - 155828093 155829661 - 7789170 263 ABBA01028631;AJ271735;AMYH02040902;NG_001073;U02035 1702412 GDB:192496 AMD;AMD2;AMDPX AMDPY pseudo HGNC:460 INFERRED 1343944 AMELY amelogenin, Y-linked This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008] Y Y Y p11.2 2473979 2482088 + 6733959 6742068 - 6865918 6874027 - 1580863;6480464;8699517 12477932;12815422;15489334;17189292;1734713;17588179;18029348;18067069;2004775;2037302;22669323;23623014;23948316;2737677 266 Q99218 ABBA01034871;AC013412;AY487421;BC069138;BC074976;BC074977;CH471163;M55419;M86933;NG_008011;NM_001143;X14439 AAA51718;AAA62827;AAH69138;AAH74976;AAH74977;AAR39431;CAA32612;EAW59129;NP_001134;Q99218 Hs.1238 1728909;1744873;1776961;1797068;2128593;2144780;5017959;5022816;5095104;5095106;5095108;5095110;5095112 AMELX;AMELY-1;AMELY-2;AMELY-3;AMELY-4;AMELY-5;AMELY-6-1;AMELY-6-2;G38362;G42692;GDB:574132;SHGC-36989;SHGC-5464 AMGL;AMGY OTTHUMP00000033222;OTTHUMP00000039060;amelogenin (Y chromosome);amelogenin, Y isoform APPROVED protein-coding ENSG00000099721 HGNC:462 02462 410000 REVIEWED 735379 AMELX amelogenin, X-linked This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X X p22.31-p22.1 15438990 15446338 + 11311533 11318881 + 11293413 11300761 + 1300370;1599092;1300281;6480464;7240710;8554872;8699517 11406633;15721149;8406474 11839357;11852235;11877393;11922868;11922869;12477932;12613657;1483698;15111628;15489334;15772651;16674683;1734713;17645864;17688372;18029348;18042988;18067069;18434575;18701806;18714142;18781068;19025992;19083859;1916828;19913121;19966041;20012165;2004775;2059881;20628086;20929860;21081224;21114591;21514271;23251683;23525533;23733431;23790503;23948316;24167599;2509010;2737677;7782077;8118759;8254123;9041053 265 Q99217 ABBA01070900;ABBA01070901;AC002366;AF436849;AMYH02038854;AY040206;BC069118;BC074951;CH471074;M55418;M86932;NG_012040;NG_012494;NM_001142;NM_182680;NM_182681;S67147;X14440 AAA51717;AAA62826;AAB29184;AAC21581;AAH69118;AAH74951;AAK77213;AAL30432;CAA32613;EAW98792;EAW98793;EAW98794;NP_001133;NP_872621;NP_872622;Q99217 Hs.654436 1679774;1702906;1728909;1743711;1744867;1744869;1744873;1744877;1744879;1769050;1797068 AMELX;G42692;GDB:371402;GDB:574117;GDB:574121;GDB:574132;GDB:574144;GDB:574146;GDB:677393;RH46956;RH79902 AI1E;AIH1;ALGN;AMG;AMGL;AMGX OTTHUMP00000022906;OTTHUMP00000022907;amelogenesis imperfecta 1;amelogenin (X chromosome, amelogenesis imperfecta 1);amelogenin (amelogenesis imperfecta 1, X-linked);amelogenin, X isoform APPROVED protein-coding ENSG00000125363 HGNC:461 02313 300391;301200 REVIEWED 1606716 AMER1 APC membrane recruitment protein 1 The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010] X X X q11.2 63751829 63772456 - 63404997 63425624 - 64185117 64205744 - 6480464;7240710;8554872;8699517 11807859;14702039;15772651;16344560;17204608;17510365;17620295;17925383;18021721;18311776;18391980;18452086;18460646;18720004;19079258;19137020;19322201;19351817;19416806;19757195;19760609;20128690;20209645;20679664;20696052;20843316;20950377;20956941;21139048;21304492;21498506;22215675;22285752;22670894;22716240;22800892;23000965;23333300;23443559;24249259;24255178;24265322;24322982 139285 Q5JTC6 ABBA01066875;ABBA01066876;ABBA01066877;AK097146;AL355852;AL833759;AMYH02039596;CH471132;DA939151;EF186024;NG_021345;NM_152424;XM_005262241 ABM60755;BAC04964;EAX05415;NP_689637;Q5JTC6;XP_005262298 Hs.314225 1765253 SHGC-148743 FAM123B;FLJ39827;OSCS;RP11-403E24.2;WTX OTTHUMP00000196469;Wilms tumor gene on the X chromosome protein;Wilms tumor on the X;adenomatous polyposis coli membrane recruitment 1;family with sequence similarity 123B APPROVED protein-coding ENSG00000184675 HGNC:26837 06565 300373;300647 REVIEWED 1604720 AMER2 APC membrane recruitment protein 2 ENCODES a protein that exhibits phosphatidylinositol-4,5-bisphosphate binding; INVOLVED IN negative regulation of canonical Wnt signaling pathway; ectoderm development (ortholog); FOUND IN plasma membrane; INTERACTS WITH trichostatin A; valproic acid; cefaloridine (ortholog) 13 13 13 q12.13 6806916 6810113 - 25735817 25746426 - 25161679 25172288 - 6480464 12477932;14702039;15057823;15345747;15489334;16344560;20843316;22128170;22898821;22949735;8889548 219287 Q8N785;Q8N7J2 ABBA01007899;AK055049;AK055278;AK094378;AK098054;AK098343;AK098796;AL359757;AL832586;AL832627;AMYH02027718;BC032653;BC041392;BC045677;BM680074;CH471075;DA210701;NM_152704;NM_199138;XM_005266279;XM_005266280;XM_006719770 AAH32653;AAH41392;BAB70845;BAC05288;BAC05414;EAX08363;EAX08364;NP_689917;NP_954589;Q8N7J2;XP_005266336;XP_005266337;XP_006719833 Hs.528335;Hs.731897 1656057;1694682;1704700;1722453;1738369;1738371;1846574;1847167 D13S504E;D13S505E;G43527;G60154;RH15722;SHGC-79006;STS-H92893;STS-R17761 FAM123A;FLJ25477 OTTHUMP00000018143;OTTHUMP00000222591;family with sequence similarity 123A;hypothetical protein LOC219287 APPROVED protein-coding ENSG00000165566 HGNC:26360 08067 614659 VALIDATED 1601927 AMER3 APC membrane recruitment protein 3 ENCODES a protein that exhibits lipid binding (inferred); INVOLVED IN Wnt signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH copper(2+) sulfate; dibutyl phthalate (ortholog); pirinixic acid (ortholog) 2 2 2 q21.1 125047974 125060604 - 131513077 131525707 + 130755504 130768134 + 6480464;8554872 12477932;14702039;16344560;20843316;24251807 205147 C9J4B8;C9JS07;Q8N944 ABBA01019373;AC010984;AC140481;AK095696;AK289525;AK291424;AMYH02004798;BC025667;BC113445;BC113447;BC143806;CH471250;DA102742;DA318919;DA401709;DA500900;DA773233;NM_001105193;NM_001105194;NM_001105195;NM_152698 AAI13446;AAI13448;AAI43807;AAY24355;ADR83424;BAC04612;BAF82214;BAF84113;EAW51273;NP_001098663;NP_001098664;NP_001098665;NP_689911;Q8N944 Hs.369289 1689632;1740101;2120205;2162449 D2S2134;D2S2700;RH91129;WI-12461 FAM123C;FLJ38377 OTTHUMP00000162406;OTTHUMP00000204983;OTTHUMP00000204984;family with sequence similarity 123C;hypothetical protein LOC205147 APPROVED protein-coding ENSG00000178171 HGNC:26771 08241 VALIDATED 736161 AMH anti-Mullerian hormone Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family which mediates male sexual differentiation. Anti-Mullerian hormone causes the regression of Mullerian ducts which would otherwise differentiate into the uterus and fallopian tubes. Some mutations in the anti-Mullerian hormone result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 2183289 2186248 + 2249113 2252072 + 2249114 2252073 + 1601182;1601180;1601181;1601183;1580863;2315637;2315638;2315652;2315639;6480464;6907045;7240710;8699517 1483695;16533786;17109858;17217166;17224152;19359032;19424576;19820206 11420127;11760020;11773638;12456604;12462075;12477536;12477932;12571168;12834017;14671196;14671316;14695376;14715867;14742691;14750901;15057824;15070957;15217995;15536161;15550498;15897891;16030171;16159935;16213847;16368745;16566934;16740653;16816803;16923748;17088539;17335955;17337470;17425826;17462637;17485437;17488788;1750488;17543956;17559842;17603052;17624337;17628551;17636279;17926161;17951406;18191888;18230658;18249372;18249391;18291376;18310677;18321493;18328480;18381582;18555223;18593767;18697861;18784351;18854109;18930199;18930217;19056816;19064572;19217095;19342396;19345350;19361798;19409547;19539910;19539911;19730683;19755162;19800062;19940443;20060112;20064870;20150576;20155783;20207725;20236105;2023927;20309569;20719830;20734064;20797901;20797903;20801125;20809108;20843948;20861221;20864412;21114374;21168856;21177311;21227938;21227943;21285453;21300348;21315333;21315336;21341396;21451424;21457958;21481373;21486417;21497340;21514585;21514928;21529798;21576079;21704216;21719005;21724534;21784736;21789206;21882017;21988832;22038452;22049172;22154766;22188863;22244782;22355044;22401810;22405597;22420235;22429116;22442264;22545082;22552379;22563903;22673409;22674205;22693172;22771030;22814098;22821432;22901847;22910001;22921911;22984527;23002694;23044647;23051961;2325025;23295284;23368705;23371438;23390860;23394782;23408576;23419927;23433069;23433830;23452339;23461296;23509105;23533225;23533229;23541317;23544102;23553200;23554429;23608780;23640374;23664458;23690308;23762215;23785020;23810163;23847299;23850305;23876536;23928669;23968732;24045871;24069435;24083876;24098470;24146295;24172648;24182412;24210790;24219729;24290000;24292596;24345579;24424371;24593938;24613539;24620523;24661732;24666685;2467567;24746743;24886254;24951363;3028714;3754790;8162013;8596488;8755541;8889695;8895659;9713320 268 K7EJU5;P03971 ABBA01002714;AC005263;AI791949;AMYH02035186;BC033218;BC049194;CH471139;K03474;NG_012190;NM_000479 AAA98805;AAC25614;AAH49194;EAW69397;NP_000470;P03971 Hs.112432 1795218;2131407;5125939 AMH;AMH_42;RH71348 MIF;MIS Mullerian inhibiting factor;Mullerian inhibiting substance;anti-Muellerian hormone;muellerian-inhibiting factor;muellerian-inhibiting substance APPROVED protein-coding ENSG00000104899 HGNC:464 02979 261550;600957 REVIEWED 1323068 AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012] 16 16 16 q21 40892193 40957463 - 56395364 56459450 - 56361452 56425538 - 1580863;6480464;6907045 10456327;11724934;11902125;12067203;12477932;12670940;12847084;12962414;14702039;15303277;15331598;15489334;16168377;16184720;16186510;16196087;16275660;16407162;1649192;16563432;16751776;16868077;16968747;16979136;16987818;17043353;17071500;17157811;17265125;17310145;17311810;17353931;17502376;17681147;17872946;18037895;18216283;18468998;18502753;18775313;18835813;19103148;19223579;19322201;19549727;19560420;19661182;19690564;19815544;19828134;19835843;19864457;19946888;20089858;20126661;20504226;20574759;21139048;21209460;21343306;21636303;21832065;21900206;21906983;21914798;21965653;21987572;22101235;22118674;22143767;22266900;22328510;22812524;22990118;23000965;23123110;23223569;23246001;23333620;23383273;23427266;23606741;23665563;23666464;23798571;23867461;23942235;24068323;24100225;24217618;24285545;24496447;24810856;24816145;24820123;7626106;8889549 267 H3BQM3;H3BRK9;H3BSK3;Q9UKV5;R4GNG2 AA767223;ABBA01025242;ABBA01025243;ABBA01025244;AC009102;AC092140;AF124145;AK023874;AMYH02032084;AMYH02032085;AMYH02032086;AMYH02032087;BC017043;BC051032;BC056869;BC069197;BX345849;BX409690;CA748782;CH471092;CQ834404;DQ582721;L35233;M63175;NM_001144;W60999;XM_005255889;XM_005255890 AAA36671;AAA79362;AAD56722;AAH17043;AAH56869;AAH69197;CAH05417;EAW82857;EAW82858;NP_001135;Q9UKV5;XP_005255946;XP_005255947 Hs.295137 1665663;1716435;1855805;2157656;2176791;5100562 D7S2301E;RH121398;RH70754;SHGC-60751;SHGC-60972;SHGC-61049 GP78;RNF45 AMF receptor, isoform 1;AMF receptor, isoform 2;E3 ubiquitin-protein ligase AMFR;OTTHUMP00000164316;RING finger protein 45;autocrine motility factor receptor;autocrine motility factor receptor, isoform 1;autocrine motility factor receptor, isoform 2 APPROVED protein-coding ENSG00000159461 HGNC:463 09130 603243 REVIEWED 1344740 AMICA1 adhesion molecule, interacts with CXADR antigen 1 ENCODES a protein that exhibits cell adhesion molecule binding; integrin binding; protein homodimerization activity; INVOLVED IN heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; monocyte extravasation; neutrophil chemotaxis; ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; tight junction; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cadmium atom 11 11 11 q23.3 115222323 115253688 - 118064442 118095809 - 118193727 118225094 - 6480464;8554872 10737800;12477932;12869515;12975309;14702039;15340161;15800062;16344560;18948633;19064666;20379614;21982860 120425 B3KUI3;E9PJJ4;E9PKK2;E9PLF9;E9PNS8;E9PR26;Q496M4;Q86YT9 ABBA01039714;AJ515553;AK057590;AK090409;AK094399;AK097285;AK298722;AK300851;AK301099;AMYH02025637;AP002800;AW804077;AY093686;AY093687;AY138965;AY358362;BC100794;BC100795;BC100796;BC100797;CH471065;DA090367;DC296115;EF444945;JA738745;JA738747;NM_001098526;NM_001286570;NM_001286571;NM_153206;NR_104479;XM_005271406;XM_005271407 AAI00795;AAI00796;AAI00797;AAI00798;AAM15730;AAM15731;AAN52117;AAQ88728;ACA05929;ACA05930;BAC03390;BAC04347;BAG53445;BAG60876;BAG62502;BAG62698;CAD56620;CCF77025;CCF77026;EAW67354;EAW67355;NP_001091996;NP_001273499;NP_001273500;NP_694938;Q86YT9;XP_005271463;XP_005271464 Hs.16291 1721413;1739599;2152582;2163481;2218214 AMICA__4295;D11S4050E;G59558;RH47232;STS-T86918 CREA7-1;CREA7-4;FLJ37080;Gm638;JAML;MGC118814;MGC118815 AMICA;OTTHUMP00000234548;OTTHUMP00000234549;OTTHUMP00000234550;OTTHUMP00000234551;OTTHUMP00000234707;adhesion molecule AMICA;adhesion molecule interacting with CXADR antigen 1;adhesion molecule that interacts with CXADR antigen 1;dendritic cell-specific protein CREA7-1;dendritic-cell specific protein CREA7-1;dendritic-cell specific protein CREA7-4;junctional adhesion molecule;junctional adhesion molecule-like protein-coding ENSG00000160593 HGNC:19084 16482 609770 VALIDATED 733276 AMHR2 anti-Mullerian hormone receptor, type II This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009] 12 12 12 q13 53467836 53475515 + 53817594 53825439 + 53423811 53431654 + 1580863;704409;70669;2315638;2315651;6480464;6907045;7240710;8699517;8554872 11125071;17988723;19424576;8119126 10589763;10874041;11420127;11549681;11588147;12462075;12477536;12477932;12834017;14750901;15489334;15717329;16344560;17337470;17636279;18230658;18310289;18697861;19064572;19457927;19539910;20236105;20362961;20734064;20861221;20864412;22584735;22939624;22962306;23295284;23321213;23544102;23969185;24146295;24613539;7488027;7493017;8572466;8872466;8889695;8940028 269 H3BPI9;Q16671 ABBA01008337;AC068889;AF172932;AJ572328;AK313593;AMYH02026519;AY714878;BC126316;BC136356;CH471054;CR627318;DB020573;NG_015981;NM_001164690;NM_001164691;NM_020547;U29700;X89013;X91156;X91157;X91158;X91159;X91160;X91161;X91162;X91163;X91164;X91165;X91166;XM_005268786;XM_005268787;XM_005268788;XM_005268789;XM_005268790;XM_005268791;XM_005268792;XM_005268793;XM_005268794;XM_005268795 AAC50328;AAD48497;AAI26317;AAI36357;AAU21221;ADR83081;CAA61418;CAA62593;EAW96701;NP_001158162;NP_001158163;NP_065434;Q16671;XP_005268843;XP_005268844;XP_005268845;XP_005268846;XP_005268847;XP_005268848;XP_005268849;XP_005268850;XP_005268851;XP_005268852 Hs.659889 1747699;1747701;2144914 G64261;G64262;STS-U29700 AMHR;MISR2;MISRII;MRII AMH type II receptor;MIS type II receptor;Muellerian inhibiting substance type II receptor;Mullerian inhibiting substance type II receptor;OTTHUMP00000242707;OTTHUMP00000242708;OTTHUMP00000242709;anti-Muellerian hormone type II receptor;anti-Muellerian hormone type-2 receptor;anti-mullerian hormone type 2 receptor APPROVED protein-coding ENSG00000135409 HGNC:465 02978 261550;600956 REVIEWED 736884 AMIGO2 adhesion molecule with Ig-like domain 2 INVOLVED IN heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (ortholog); homophilic cell adhesion via plasma membrane adhesion molecules (ortholog); negative regulation of programmed cell death (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); nucleus (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 12 12 12 q13.11 46266530 46270780 - 47469490 47473734 - 47075707 47079951 - 6480464;8554872 12477932;12629050;12843293;14702039;15107827;15146197;15489334;21078624;21139048;22219177;23000965 347902 Q86SJ2 AB079074;AB080610;ABBA01031461;AC004010;AK091761;AK093111;AL833007;AMYH02026412;AY237005;AY454159;BC014103;BC047595;BC095477;CH471111;CN397638;JA738799;NM_001143668;NM_181847;XM_005268837 AAH14103;AAH47595;AAH95477;AAO48946;AAR83271;BAC81188;BAC81189;BAG52413;BAG52657;CAH56293;CCF77052;EAW57923;EAW57924;NP_001137140;NP_862830;Q86SJ2;XP_005268894 Hs.121520 1696596;1697182;2218216 AMIGO2__4296;RH102080;SHGC-82896 ALI1;AMIGO-2;DEGA OTTHUMP00000241691;OTTHUMP00000241692;OTTHUMP00000241693;alivin 1;alivin-1;amphoterin induced gene 2;amphoterin-induced protein 2;differentially expressed in gastric adenocarcinoma;differentially expressed in gastric adenocarcinomas;transmembrane protein AMIGO2 protein-coding ENSG00000139211 HGNC:24073 16483 615690 VALIDATED 1606525 AMIGO1 adhesion molecule with Ig-like domain 1 INVOLVED IN axonal fasciculation (ortholog); heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (ortholog); homophilic cell adhesion via plasma membrane adhesion molecules (ortholog); FOUND IN cell projection (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH amiodarone; trichostatin A; valproic acid 1 1 1 p13.3 108318787 108321677 - 110049446 110052336 - 109506824 109509714 - 6480464 10574461;12477932;12629050;15489334;16710414;17207965;20383146 57463 Q86WK6 AB032989;ABBA01068378;AK295678;AL355145;AMYH02001711;AY237007;BC040879;CH471122;DC317707;NM_020703 AAH40879;AAO48948;ACE86637;ACE87319;ADQ33120;BAA86477;BAG58535;EAW56391;NP_065754;Q86WK6 Hs.726479 1687005;2134085;2163510 RH26161;SHGC-75264;WI-12158 ALI2;AMIGO-1 AMIGO;OTTHUMP00000013378;OTTHUMP00000013379;alivin-2;amphoterin-induced gene and ORF;amphoterin-induced protein 1 protein-coding ENSG00000181754 HGNC:20824 11129 615689 VALIDATED 735629 AMIGO3 adhesion molecule with Ig-like domain 3 INVOLVED IN heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (ortholog); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); ammonium chloride (ortholog); benzo[a]pyrene (ortholog) 3 3 3 p21 49718958 49721929 - 49754267 49757238 - 49716834 49719805 - 6480464 11347906;12477932;12629050;12975309;15489334;20307617;21297633 386724 Q494V5;Q86WK7 ABBA01024577;AC099668;AMYH02006756;AY237003;AY358134;BC101363;BC101364;BC101365;BC110418;BQ673901;CH471055;NG_011603;NM_198722 AAI01364;AAI01365;AAI01366;AAI10419;AAO48944;AAQ88501;EAW65011;NP_942015;Q86WK7 Hs.567903 1675610;1684495;1712112;1852317;1856980;2106421;2117546;2153948;2177221 A004P45;A005X28;AMIGO3__4297;G54105;RH15941;RH65603;RH78233;RH78461;RH91732 ALI3;AMIGO-3;MGC120552 OTTHUMP00000212652;alivin-3;amphoterin induced gene and orf 3;amphoterin-induced gene and ORF 3;amphoterin-induced protein 3 protein-coding ENSG00000176020 HGNC:24075 16484 615691 VALIDATED 1347896 AMLCR2 acute myeloid leukemia chromosome region 2 ASSOCIATED WITH Leukemia, Myeloid, Acute (inferred) 7240710 9382098 9163 HGNC:466 601626 6481065 AMMECR1-IT1 AMMECR1 intronic transcript 1 (non-protein coding) q23 100874352 AL031319;AL699506;HG512652 Hs.682139 ncrna HGNC:41306 1347096 AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] X X X q22.3 109917037 110163085 - 109437414 109683461 - 110194186 110440233 - 6480464;8554872 10049589;12477932;14702039;15489334;15558565;15772651;16344560;17207965;19322201;19460752;21139048;9480748 9949 Q9Y4X0 ABBA01043400;ABBA01043401;ABBA01043402;ABBA01043403;ABBA01043404;ABBA01043405;ABBA01043406;ABBA01043407;ABBA01043408;ABBA01043409;ABBA01043410;ABBA01043411;ABBA01043412;ABBA01043413;ABBA01043414;ABBA01043415;ABBA01043416;ABBA01043417;ABBA01043418;ABBA01043419;ABBA01043420;ABBA01043421;ABBA01043422;ABBA01043423;ABBA01043424;ABBA01043425;AC000113;AJ007014;AJ012221;AK001703;AK023637;AK055321;AK091430;AK314596;AL079334;AL137844;AL359079;AMYH02040230;AMYH02040231;BC024762;BC037983;BC051895;BC060813;BC065214;BX648797;CH471120;DA203031;KF459306;NG_016469;NM_001025580;NM_001171689;NM_015365 AAH60813;ADQ32993;BAG37168;BAG50964;BAG52359;CAB45546;CAB58122;CAB58123;EAX02663;NP_001020751;NP_001165160;NP_056180;Q9Y4X0 Hs.656243 1649891;1690496;1690862;1691594;1693282;1789118;1848099;1850366;2115681;2128498;2128856;2129101;2145915;2146027;2146936;2150189;2151116;2152653;2157043;2161165;2177617;5093366 A009N07;AF020160;AF026413;AL008900;AL022442;AL032569;DXS7531;DXS7599;DXS7733;DXS9727;G32676;G42344;G65693;L77264;L77265;RH11202;RH46895;RH77921;RH80450;RH80484;SGC34545;WI-16868 AMMERC1 AMME syndrome candidate gene 1 protein;Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region,;OTTHUMP00000023851;OTTHUMP00000023852;OTTHUMP00000215172 APPROVED protein-coding ENSG00000101935 HGNC:467 02182 300195 REVIEWED 1605931 AMMECR1L AMMECR1-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; copper(2+) sulfate 2 2 2 q21 121930156 121953388 - 128619204 128643635 - 127861630 127885940 - 6480464;8554872 12477932;14702039;15489334;17207965;19322201;20098747;21139048;22087225;23602568 83607 Q6DCA0 ABBA01040189;ABBA01040190;AC012306;AK024993;AK026685;AK095871;AK304145;AL137415;AMYH02004742;AMYH02004743;BC004208;BC016181;BC067124;BC078174;BC084552;CH471103;NM_001199140;NM_031445;XM_005263804;XM_005263806;XM_005263807;XM_005263808;XM_006712786;XM_006712787 AAH16181;AAH78174;ADQ32032;BAG65038;EAW95346;EAW95347;EAW95348;EAW95349;NP_001186069;NP_113633;Q6DCA0;XP_005263861;XP_005263863;XP_005263864;XP_005263865;XP_006712849;XP_006712850 Hs.546449 1723251;2137072;2151359;2165885;2172906 AFMa204xe5;RH122312;RH70799;RH78129;WI-17503 FLJ38552;MGC4268 AMME chromosomal region gene 1-like;AMMECR1-like protein;OTTHUMP00000162270 APPROVED protein-coding ENSG00000144233 HGNC:28658 14625 VALIDATED 5130582 AMMECR1LP1 AMMECR1-like pseudogene 1 13 13 13 78073329 78074190 + 97225896 97226757 + 96573642 96574503 + 100420921 ABBA01027168;AL356098;AMYH02028535;NG_024945 1703282 SHGC-68276 APPROVED pseudo HGNC:39809 INFERRED 1318522 AMN amnion associated transmembrane protein The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008] 14 14 14 q32.3 83443115 83451301 + 103388993 103397179 + 102922656 102930842 + 1599101;1580863;6480464;7240710;8554872;8699517 12590260 11279507;11279523;12477932;12975309;14576052;14702039;16403802;16730941;17979745;18029348;19056867;21750092;22078000;22929189;8660894;8889548;9851841 81693 H0YKJ5;H0YMX8;Q9BXJ7 ABBA01048448;ABBA01048449;AF328788;AK055802;AL117209;AMYH02029910;AY358468;BC029948;CB306421;CH471061;NG_008276;NM_030943 AAK28532;AAQ89949;BAG51576;EAW81798;EAW81799;NP_112205;Q9BXJ7 Hs.534494 2217008 AMN_3231 PRO1028 amnionless;amnionless homolog;visceral endoderm-specific type 1 transmembrane protein APPROVED protein-coding ENSG00000166126 HGNC:14604 09314 261100;300100;605799 REVIEWED 1606942 AMN1 antagonist of mitotic exit network 1 homolog (S. cerevisiae) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH formaldehyde; genistein; methyl methanesulfonate 12 12 12 p11.21 11646334 11704593 - 31824071 31882108 - 31671137 31729174 - 6480464;8554872 12477932;14702039;23761726 196394 E9PHB0;F5GWF7;F5H1R2;F5H286;F5H3D1;F5H7U5;Q8IY45 ABBA01031738;ABBA01031739;ABBA01031740;ABBA01031741;ABBA01031742;AC023157;AK094708;AK123033;AK302112;AK311214;AK311249;AL833434;AMYH02026283;AMYH02026284;BC037897;BC045831;BC067906;BI464068;CH471116;DC325581;DC394802;NM_001113402;NM_001278411;NM_001278412;NR_103522;NR_103523;XM_006719054;XM_006719055 AAH37897;AAH45831;AAH67906;BAH13629;EAW88543;EAW88544;NP_001106873;NP_001265340;NP_001265341;Q8IY45;XP_006719117;XP_006719118 Hs.585084;Hs.740628 1341681;1761059;1767747;2153618;2163568 D12S1621;RH11230;SHGC-145009;SHGC-56513;WI-20441 OTTHUMP00000240376;OTTHUMP00000240377;OTTHUMP00000240379;OTTHUMP00000240381;protein AMN1 homolog protein-coding ENSG00000151743 HGNC:27281 14115 VALIDATED 1344662 AMOT angiomotin This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X X q23 112502736 112568672 - 112018105 112084136 - 112774877 112840908 - 6480464;8554872 10470851;11257124;11257132;12168954;123345;12345;12406577;12477932;12902404;14702039;15489334;15804419;16043488;16196087;16640563;16678097;16754857;17148452;18824598;18850735;19460752;19565639;19590046;19615732;19913121;20080965;20562859;20628086;21139048;21145461;21145499;21224387;21285250;21481793;21832049;21890473;22053931;22268729;22385262;22939629;22948661;23000965;23389031;23443559;23564455;23588948;24003252;24003254;24101513;24106267;24225952;24244333;24255178;24548561;24550385;24722188;24984263;25036637 154796 A6NP16;E7ERM3;Q4VCS5 AB028994;ABBA01043121;ABBA01043122;ABBA01043123;ABBA01043124;ABBA01043125;ABBA01043126;ABBA01043127;ABBA01043128;ABBA01043129;ABBA01043130;ABBA01043131;ABBA01043132;AC004827;AF286598;AK024344;AK301573;AMYH02040248;AY987378;BC039408;BC050581;BC094712;BC130294;CH471120;NG_012628;NM_001113490;NM_133265;XM_005262087;XM_005262088;XM_005262089;XM_005262090;XM_006724623 AAG01851;AAH94712;AAI30295;AAY24451;BAA83023;BAG63066;EAX02626;EAX02627;NP_001106962;NP_573572;Q4VCS5;XP_005262144;XP_005262145;XP_005262146;XP_005262147;XP_006724686 Hs.528051 1664099;1672127;1694080;2110257;2116866;2150764;5106118 AFMa275zc9;AL035157;AMOT;AMOT_3722;G16015;G31118;WI-13613 KIAA1071 OTTHUMP00000023866;OTTHUMP00000037949;OTTHUMP00000037950;OTTHUMP00000226603;angiomotin p130 isoform;angiomotin p80 isoform APPROVED protein-coding ENSG00000126016 HGNC:17810 02327 300410 REVIEWED 1313196 AMOTL1 angiomotin like 1 The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 q14.3 91789295 91897678 + 94439602 94609918 + 94706436 94876753 + 1580863;6480464 11076863;11230166;11733531;12406577;12477932;14702039;15489334;15489336;16019084;16055720;16381901;17353931;18029348;18850735;18951430;19565639;19590046;19615732;19932912;21139048;21145499;21685940;21890473;21906983;21963094;22558212;23000965;23564455;23793505;24003252;24163370;24255178;24457600;24550385 154810 F8WDH4;Q8IY63 ABBA01040023;AF453742;AK024350;AK074084;AK093699;AL137281;AL833833;AMYH02025373;AMYH02025374;AP001152;AP002376;BC014126;BC018449;BC037539;BC040683;BX648729;CH471065;KF454945;KF455454;KF511169;NM_001301007;NM_130847;XM_005273798;XM_005273800;XM_005273801;XM_006718771;XM_006718772 AAH14126;AAH37539;AAL49764;BAB84910;BAC04218;CAD38693;CAH56180;CAL38539;EAW66943;EAW66944;EAW66945;NP_001287936;NP_570899;Q8IY63;XP_005273855;XP_005273857;XP_005273858;XP_006718834;XP_006718835 Hs.503594 1724311;1767125;1848506;1848528;2134397;2167406;2174562 A004Y10;D11S2227E;RH119076;RH16151;RH36117;RH45157;WI-15566 JEAP OTTHUMP00000236978;OTTHUMP00000237751;angiomotin-like protein 1;junction-enriched and associated protein APPROVED protein-coding ENSG00000166025 HGNC:17811 12451 614657 REVIEWED 735799 AMPD1 adenosine monophosphate deaminase 1 Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] 1 1 1 p13 113444980 113467497 - 115215719 115238239 - 114673098 114695618 - 1578329;1580863;6480464;6907045;7240710;8699517;8554872 15793265 10086964;10996775;11028479;11102975;12117480;12213808;12477932;12783984;1370861;1400401;14702039;15135700;15173240;15239633;15309698;15368811;15677729;15882662;16021915;16021918;1631143;16344560;16360962;16570231;16671104;16707139;16710414;16767606;16875916;16947783;16996850;17376785;17463303;17500595;17530705;17565237;17630210;17687759;18224333;18338202;18409530;18493842;18801770;18855224;19237423;19277943;19353846;19422651;19427446;19845893;19902562;19913121;19948975;20044476;20544536;20628086;20952631;21108053;21145461;22017426;22105616;22324844;2345176;23486588;24058088;24189344;2502331;6167680;6406772;644316;7201581;8335021;8355716;8889549;9443500;9730972;9880040 270 P23109 AA086476;AB125879;AB158499;AB158500;AB158502;AB160874;AB160875;AB160876;AB160877;AB160878;ABBA01068467;AK097077;AK291349;AK314252;AL096773;AMYH02001784;BC056678;CH471122;DA826076;M37931;M60092;NG_008012;NM_000036;NM_001172626 AAA57281;AAG24258;AAH56678;AAI40300;AAI41601;BAD23974;BAD23975;BAD23977;BAD27426;BAD27427;BAD27428;BAD27429;BAD27430;BAD69565;BAF84038;BAG36918;EAW56606;EAW56607;NP_000027;NP_001166097;P23109 Hs.89570 1660397;1736576;1740781;1746719;5491763 AI553520;AMPD1;CHLC.GGAA25C10;D1S2069E;D1S3310 AMPD;MAD;MADA;MMDD AMP deaminase 1;OTTHUMP00000013665;OTTHUMP00000013666;adenosine monophosphate deaminase 1 (isoform M);adenosine monophosphate deaminase-1 (muscle);myoadenylate deaminase;skeletal muscle AMPD APPROVED protein-coding ENSG00000116748 HGNC:468 00040 102770;615511 REVIEWED 737053 AMOTL2 angiomotin like 2 Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 3 q21-q22 132500465 132519692 - 134074187 134094321 - 134355345 134375417 - 6480464 10231032;12406577;12477932;14702039;15489334;16189514;16344560;16678097;21139048;21145461;21145499;21832154;21906983;21937427;21963094;21987572;22779921;23525008;23564455;23667531;23911299;24003252;24225952;24255178;8125298;8889549 51421 D6RBK2;D6RCL7;D6RF61;D6RFG0;D6RIC7;D6RJA4;Q9Y2J4 AA056579;AB023206;ABBA01059156;AC010207;AF175966;AI214560;AK001343;AK074731;AK091040;AK223598;AK291616;AK299270;AMYH02007720;AW294642;BC011454;BC025981;BU178516;CH471052;DA330301;NM_001278683;NM_001278685;NM_016201;XM_005247520;XM_006713654;XM_006713655 AAD56361;AAH11454;AAH25981;BAA76833;BAD97318;BAF84305;BAG51994;BAG52268;BAH12987;EAW79150;EAW79151;EAW79152;NP_001265612;NP_001265614;NP_057285;Q9Y2J4;XP_005247577;XP_006713717;XP_006713718 Hs.426312;Hs.713601 1680505;1703178;1772593;2106423;2144025;2159147;2160410;2163020 A002Y47;AMOTL2__4299;RH80520;SGC32004;SHGC-32914;SHGC-34138;STS-H93486;WI-20334 LCCP Leman coiled-coil protein;OTTHUMP00000216465;OTTHUMP00000216466;OTTHUMP00000216530;OTTHUMP00000216978;angiomotin-like protein 2 APPROVED protein-coding ENSG00000114019 HGNC:17812 16485 614658 REVIEWED 732010 AMPD3 adenosine monophosphate deaminase 3 This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] 11 11 11 p15 10593627 10650868 + 10471846 10529126 + 10450321 10507579 + 734568;1580863;1300048;6480464;6907045;8554872 8032342 11139257;12213808;12477932;12604357;1400401;1420359;15174051;15807549;16670071;18409530;18493842;20379614;20686565;21906983;22145905;22505724;24097068;3804327;7881427;8004104;8140814;8611627;8863347;9291127 272 E9PIR5;E9PKC5;E9PLK6;E9PPG2;H0YDC3;H0YDY8;Q01432 ABBA01061158;ABBA01061159;AC021914;AK289998;AK294444;AK295046;AK299113;AK301507;AK302970;AK308181;AK311279;AK311436;AK311607;AK311711;AK313039;AMYH02024327;BC126118;CH471064;D12775;D31646;DC334250;DC401375;M84720;M84721;M84722;NG_012041;NM_000480;NM_001025389;NM_001025390;NM_001172430;NM_001172431;U29926 AAA58365;AAA58366;AAA58367;AAB60408;AAB60409;AAB60410;AAI26119;ADR83397;BAA02240;BAA06505;BAF82687;BAH11768;BAH11958;BAH12953;BAH13499;BAH13863;EAW68567;EAW68568;EAW68569;NP_000471;NP_001020560;NP_001020561;NP_001165901;NP_001165902;Q01432 Hs.501890 1647079;1738093;1739129;1794558;2110543;2110545;2167694;2171161;2186890;5492102 D11S3721;D11S3937;D6S2084;G15890;MARC_44783-45779:1101739380:7;MARC_44785-45781:1101739916:1;MARC_45777-45778:1101741591:5;PMC31832P1;RH46259;STS-U29926 AMP aminohydrolase;AMP deaminase 3;OTTHUMP00000230743;OTTHUMP00000230746;OTTHUMP00000230747;OTTHUMP00000230748;OTTHUMP00000230749;adenosine monophosphate deaminase (isoform E);erythrocyte AMP deaminase;erythrocyte type AMP deaminase;erythrocyte-specific AMP deaminase;myoadenylate deaminase APPROVED protein-coding ENSG00000133805 HGNC:470 00041 102772;612874 REVIEWED 1346106 AMPD2 adenosine monophosphate deaminase 2 The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 1 1 1 p13.3 108431768 108443987 + 110162435 110174677 + 109619813 109632055 + 1580863;6480464;6907045;8699517;7240710;8554872 12477932;12745092;1400401;1429593;15489334;16344560;16964243;17081983;18493842;19948975;19953087;20125088;21044950;21139048;21906983;21963094;22863883;22944692;23000965;23911318;24255178;24482476;24654937;24755741;24816145;8526848;8764830 271 B2RB47;E9PIJ1;E9PJF6;H0Y360;H0YCL9;H0YE32;H0YF16;Q01433 ABBA01068380;AK025706;AK296394;AK302939;AK308907;AK314494;AL355310;AMYH02001711;AMYH02001712;BC007711;BC030217;BC075844;CH471122;DA444620;DA558264;DC410161;M91029;NG_034075;NM_001257360;NM_001257361;NM_004037;NM_139156;NM_203404;S47833;U16267;U16268;U16269;U16270;U16272;XM_005270752;XM_006710576 AAA11725;AAA62126;AAA62127;AAB06511;AAC50306;AAC50307;AAC50308;AAC50309;AAD56302;AAD56303;AAH07711;AAH75844;BAG37094;BAG59062;BAG64097;EAW56396;EAW56397;EAW56398;EAW56399;EAW56400;EAW56401;NP_001244289;NP_001244290;NP_004028;NP_631895;NP_981949;Q01433;XP_005270809;XP_006710639 Hs.82927 1653207;2191703;2191749;2218218;5014053 A006D12;AMPD2__4213;D1S3693;MARC_5351-5352:996690313:1;MARC_6497-6498:996689707:1 AMPD;PCH9;SPG63 AMP deaminase 2;OTTHUMP00000013369;OTTHUMP00000013370;OTTHUMP00000013371;OTTHUMP00000233627;OTTHUMP00000233629;OTTHUMP00000233630;OTTHUMP00000233633;OTTHUMP00000233634;adenosine monophosphate deaminase 2 (isoform L) APPROVED protein-coding ENSG00000116337 HGNC:469 11808 102771;615686;615809 REVIEWED 733884 AMPH amphiphysin This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010] 7 7 7 p14-p13 38411134 38658846 - 38423297 38671167 - 38383696 38631567 - 1300282;6480464;8554872 11879655 10542231;10748223;10764771;10899172;10931822;11113134;11709703;11877424;12023042;12057195;12456676;12477932;12558988;12565847;12690205;12853948;14529717;14704270;14973137;15345747;15489334;15834155;16139795;16275660;1628617;16344560;16671079;16696976;16733250;17244534;17419807;17437541;17762867;18206907;18647389;18814309;19144635;19669081;20214647;20379614;20946875;21044950;21712076;21900206;22331304;22360420;22558309;22745667;22975846;23000965;7757077;7757816;8076697;8245793;8552632;9148966;9182667;9195986;9259551;9280305;9315708;9341169;9348539;9388246;9513187;9603201;9694653;9736607 273 H0Y5S4;H0Y7T8;P49418 ABBA01056929;ABBA01056930;AC007245;AC011309;AC012490;AC096581;AC244625;AF034996;AF099116;AF099117;AF099119;AF099120;AF498092;AF498093;AF498094;AF498095;AF498096;AF498097;AK291447;AMYH02015550;AMYH02015551;AMYH02015552;AMYH02015553;AMYH02015554;AMYH02015555;BC034376;CH236951;CH471073;DA125756;F03887;KF458445;KF511030;NM_001635;NM_139316;U07616;X81438;XM_006715689;XM_006715690;XM_006715691 AAA21865;AAC02977;AAD16282;AAD16283;AAD16284;AAD16285;AAH34376;AAM44806;AAM44807;AAM44808;AAM44809;AAM44810;AAM44811;AAS07391;AAS07541;AAS07563;ADZ15497;BAF84136;CAA57197;EAL23989;EAL23990;EAW94110;EAW94111;NP_001626;NP_647477;P49418;XP_006715752;XP_006715753;XP_006715754 Hs.592182 1646260;1649604;1649855;1650027;1653164;1706822;1752901;1771088;1771651;1846530;2053486;2107831 1708;AMPH;AMPH_8202;D7S2115E;GDB:1317308;REN97903;RH17983;SHGC-106776;SHGC-52716;SHGC-56040;SHGC-80888;WI-12429 AMPH1 OTTHUMP00000135289;OTTHUMP00000207238;Stiff-Man syndrome with breast cancer 128kDa autoantigen;amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen);amphiphysin I APPROVED protein-coding ENSG00000078053 HGNC:471 02687 600418 REVIEWED 1343884 AMT aminomethyltransferase This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 3 3 3 p21.2-p21.1 49418998 49424898 - 49454211 49460111 - 49416778 49422678 - 1599106;1599107;1580863;6480464;6907045;7242560;7240710;8554872;8699517 20645850;3877504;8005589 10873393;11286506;12477932;14702039;16051266;16450403;18676680;19161160;19170196;19367581;19416867;19625176;19913121;1993704;20301531;20307617;20628086;20634891;20877624;22171071;22404213;25036637;6111451;6790577;7916605;8188235;9600239;9621520 275 B4DGG9;C9JXJ4;F8WF62;H0Y695;P48728 ABBA01024587;AC104452;AK091738;AK096062;AK290600;AK293481;AK293594;AK294592;AK296177;AK301072;AMYH02006751;BC007546;BC044792;BC094771;CH471055;D13811;D14686;DC387800;GD148179;NG_015986;NM_000481;NM_001164710;NM_001164711;NM_001164712;NR_028435 AAH07546;AAH44792;BAA02967;BAA03512;BAF83289;BAG52409;BAG53206;BAG56972;BAG57060;BAG57780;BAG58912;BAG62678;EAW64984;EAW64986;NP_000472;NP_001158182;NP_001158183;NP_001158184;P48728 Hs.102 1651121;1743669;1743671;1743673;1858464;2178347 A002R20;D3S3344;GDB:366601;GDB:366602;GDB:366605;RH17372 GCE;GCST;GCVT;NKH OTTHUMP00000210791;OTTHUMP00000210792;OTTHUMP00000210793;OTTHUMP00000210824;aminomethyltransferase (glycine cleavage system protein t);aminomethyltransferase, mitochondrial;glycine cleavage system T protein;glycine cleavage system protein T APPROVED protein-coding ENSG00000145020 HGNC:473 01997 238310;605899 REVIEWED 1604908 AMTN amelotin The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008] 4 4 4 q13.3 68742456 68756611 + 71384298 71398460 + 70518572 70532743 + 6480464 12477932;12975309;15340161;15489334;16304441;16787391;21697133;8889548 401138 F1T0L8;Q6UX39 AB593161;ABBA01022928;ABBA01022929;AC134919;AMYH02009421;AY358528;BC121812;BC121817;BF664579;BU727294;CH471057;NM_001286731;NM_212557 AAI21813;AAI21818;AAQ88892;BAJ84092;EAX05622;NP_001273660;NP_997722;Q6UX39 Hs.453069 1339911 D4S2969 MGC148132;MGC148133;UNQ689 OTTHUMP00000160354;OTTHUMP00000219137;RSTI689 APPROVED protein-coding ENSG00000187689 HGNC:33188 18270 610912 VALIDATED 1348537 AMY1B amylase, alpha 1B (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008] 1 1 p21 104230039 104243519 - 103687417 103700771 - 6907045;6480464 12477932;15286789;16152770;16203048;17353931;2081604;2423416;2452973;2788608;6176528;6608795 277 P04745;Q5T084;Q5T085 AI627716;AK292341;AK313275;AL513482;BC063129;BC069347;BC069463;BC070302;BC092444;BC132985;BC132987;BC132995;BC132997;BC144452;CB957894;CB958435;CB958705;NM_001008218;XM_005270758;XM_006710580 AAH63129;AAH69347;AAH69463;AAH70302;AAH92444;AAI32986;AAI32988;AAI32996;AAI32998;AAI44453;AAI72291;BAF85030;NP_001008219;P04745;XP_005270815;XP_006710643 Hs.599274;Hs.654437;Hs.655232;Hs.662103 5114567 SHGC-32938 AMY1;AMY1A;AMY1C;MGC177995 1,4-alpha-D-glucan glucanohydrolase 1;OTTHUMP00000012691;alpha-amylase 1;amylase, alpha 1b, salivary;amylase, salivary, alpha-1B;glycogenase;salivary alpha-amylase;salivary amylase alpha 1B APPROVED protein-coding ENSG00000174876 HGNC:475 18510 104701 REVIEWED 1353407 AMY1A amylase, alpha 1A (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 1 1 1 p21 102470882 102472776 + 104193695 104207174 + 103651199 103664552 + 1580863;6480464;6907045 11858714;12104089;12414807;12477932;12527308;12782315;14637141;15182367;15194503;15286789;15299664;15489334;15708646;16152770;16203048;16740002;1710976;17353931;17593303;17828263;17984929;18951906;2081604;20967220;21840370;22100627;22391145;22492122;22914593;22965187;23144191;24225843;2423416;2424823;2442579;2450054;2452973;2458567;24686848;2788608;6176528;6196780;6608795;6610603;7507116;9109822 276 P04745;Q5T084;Q5T085;Q6NSB3 AC105272;AK292341;AK313275;BC063129;BC069347;BC069463;BC070302;BC092444;BC132985;BC132987;BC132995;BC132997;BC144452;BX487266;CB956272;M18671;M18674;M18715;M18786;M19233;NM_001008221;NM_004038;XM_005270755;XM_006710579 AAA16183;AAA52279;AAA57345;AAA58368;AAH63129;AAH69347;AAH69463;AAH70302;AAH92444;AAI32986;AAI32988;AAI32996;AAI32998;AAI44453;BAF85030;NP_001008222;NP_004029;P04745;XP_005270812;XP_006710642 Hs.655232 5114567 SHGC-32938 AMY1;AMY1B;AMY1C 1,4-alpha-D-glucan glucanohydrolase 1;OTTHUMP00000012688;alpha-amylase 1;amylase, alpha 1a, salivary;amylase, salivary, alpha-1A;glycogenase;salivary alpha-amylase;salivary amylase alpha 1A APPROVED protein-coding ENSG00000237763 HGNC:474 00096 104700 REVIEWED 732589 AMY2A amylase, alpha 2A (pancreatic) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jul 2008] 1 1 1 p21 102410947 102413357 + 104159999 104168400 + 103617377 103625778 + 1580863;1300048;6480464;6907045;8554872 10091666;10769135;11376382;11772019;11914097;12477932;1284286;14718574;15286789;15304511;15489334;15571103;15648851;16152770;19001184;20428766;2081604;21366335;21827821;21988832;22063648;22584580;23602568;2423416;2450054;2452973;2458567;2788608;3260028;6336237;6608795;6610603;8125298;8193143;8528071;890964 279 H7BZQ8;P04746 ABBA01045412;AC105272;AK223463;AMYH02001594;BC007060;BC146997;CS588494;M18669;M18785;M28443;NM_000699;X07056 AAA51723;AAA51724;AAA52280;AAH07060;AAI46998;ABM83827;ABM87150;BAD97183;CAA30099;CAN87444;NP_000690;P04746 Hs.654437 AMY2;AMY2B;PA 1,4-alpha-D-glucan glucanohydrolase;OTTHUMP00000012694;alpha-amylase;amylase 1;amylase, alpha 2A, pancreatic;amylase, pancreatic, alpha-2A;found in the pancreas;glycogenase;pancreatic alpha-amylase;pancreatic amylase 2A;pancreatic amylase alpha 2A APPROVED protein-coding ENSG00000243480 HGNC:477 00094 104650 REVIEWED 1345853 AMY1C amylase, alpha 1C (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008] 1 1 1 p21 102469673 102472775 + 104287833 104301312 + 103745337 103758690 + 6480464;6907045 12414807;12477932;15286789;16203048;16502470;17353931;19199708;2081604;2423416;2452973;2788608;6176528;6608795 278 P04745 ABBA01028464;AI687773;AK292341;AK313275;AL513482;AMYH02001612;AMYH02001613;AMYH02001614;BC063129;BC069347;BC069463;BC070302;BC092444;BC132985;BC132987;BC132995;BC132997;BC144452;CB955582;CB985420;CB985730;CB987307;CD690933;NM_001008219;XM_005270761;XM_006710581 AAH63129;AAH69347;AAH69463;AAH70302;AAH92444;AAI32986;AAI32988;AAI32996;AAI32998;AAI44453;AAI46451;AAI56581;BAF85030;NP_001008220;P04745;XP_005270818;XP_006710644 Hs.655232;Hs.662103 5114567 SHGC-32938 AMY1;AMY1A;AMY1B 1,4-alpha-D-glucan glucanohydrolase 1;OTTHUMP00000012722;alpha-amylase 1;amylase, alpha 1c, salivary;amylase, salivary, alpha-1C;glycogenase;salivary alpha-amylase;salivary amylase alpha 1C APPROVED protein-coding ENSG00000187733 HGNC:476 15911 104702 REVIEWED 1319648 AMY2B amylase, alpha 2B (pancreatic) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013] 1 1 1 p21 102289703 102314336 + 104095894 104122156 + 103554644 103579534 + 1580863;6480464;6907045 11347906;11376382;11408008;12477932;1429515;14702039;15252450;15286789;15489334;16152770;16344560;1692298;2081604;2401405;24244333;2452973;2458567;2483397;2701942;2788608;309725;3260028;6608795;8268204;890964 280 B3KTI1;C9J2Z5;C9JWK7;P19961 ABBA01045412;AC105272;AI436349;AK095605;AK127047;AMYH02001592;BC011179;BC020861;BX456665;CH471097;D90097;DA157436;DB235608;DQ786288;M18670;M24895;NM_020978;X07057 AAA35525;AAA51725;AAH11179;AAH20861;BAA14130;BAG53093;BAG54429;CAA30100;EAW72902;EAW72903;EAW72904;NP_066188;P19961 Hs.484588 1679996;1741403;2116807;2125765;5019379;5114548 G06574;GDB:181084;PMC133998P8;RH66389;SHGC-34189;SHGC-75238 AMY2;AMY3;HXA 1,4-alpha-D-glucan glucanohydrolase 2B;OTTHUMP00000012696;OTTHUMP00000012697;alpha-amylase 2B;alpha-amylase carcinoid;amylase, alpha 2b, pancreatic;carcinoid alpha-amylase;glycogenase APPROVED protein-coding ENSG00000240038 HGNC:478 00095 104660 REVIEWED 1348760 AMYP1 amylase, alpha pseudogene 1 1 1 1 p21 6316 10828 - 104256342 104262511 + 103713720 103719889 + 15286789;2081604;2452973;2788608;6608795 281 ABBA01045412;AL513482;AMYH02001594;NG_029354 AMY2P pseudo HGNC:479 INFERRED 1605859 AMZ1 archaelysin family metallopeptidase 1 ENCODES a protein that exhibits metallopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); INTERACTS WITH cadmium dichloride (ortholog); pirinixic acid (ortholog); succimer (ortholog) 7 7 7 p22.3 2688040 2723669 + 2719163 2755069 + 2679522 2715436 + 6480464 11853319;12477932;12690205;14702039;15972818;23563607 155185 A4D202;Q400G9 AB075830;ABBA01039388;ABBA01039389;AC006028;AJ635357;AK092107;AK289723;AK295842;AK308900;AK311182;AMYH02015081;BC146753;CH236953;CH471144;NM_001284355;NM_133463 AAI46754;BAB85536;BAF82412;BAG52482;BAG58651;CAG25749;EAL23959;EAW87269;EAW87270;EAW87271;NP_001271284;NP_597720;Q400G9 Hs.42221 1767196 STS-H96670 KIAA1950 OTTHUMP00000201186;OTTHUMP00000201187;archaemetzincin-1;archeobacterial metalloproteinase-like protein 1;metalloproteinase-like protein protein-coding ENSG00000174945 HGNC:22231 17232 615168 VALIDATED 1605392 AMZ2 archaelysin family metallopeptidase 2 ENCODES a protein that exhibits metallopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; cyclosporin A 17 17 17 q24.2 62815748 62824909 + 66202127 66253305 + 68205988 68257164 + 6480464 11042152;12477932;14702039;15146197;15489334;15972818;17207965;20379614;21139048;21906983;24250222 51321 J3KRD0;J3KRS2;J3KS38;J3KSH1;J3KTM1;J3QL25;J3QLK6;J3QQR3;Q86W34 ABBA01028964;AC005332;AJ635358;AK090981;AK126146;AMYH02033870;AW028610;BC035935;BC050709;BC056271;BE543044;BF978559;BM450564;BQ432895;CH471099;CN278872;CN278874;NM_001033569;NM_001033570;NM_001033571;NM_001033572;NM_001033574;NM_001289054;NM_001289056;NM_016627;XM_005257432;XM_005257433;XM_005257435;XM_005257436;XM_005257437;XM_005257438;XM_006721940 AAH50709;AAH56271;ADQ33093;BAC86462;BAG52256;CAG25750;EAW89047;EAW89048;EAW89049;EAW89050;EAW89051;NP_001028741;NP_001028742;NP_001028743;NP_001028744;NP_001028746;NP_001275983;NP_001275985;NP_057711;Q86W34;XP_005257489;XP_005257490;XP_005257492;XP_005257493;XP_005257494;XP_005257495;XP_006722003 Hs.293560 1666206;1677632 D17S2023;RH27229 archaemetzincin-2;archaemetzincins-2;archeobacterial metalloproteinase-like protein 2 protein-coding ENSG00000196704 HGNC:28041 14237 615169 VALIDATED 1604205 AMZ2P1 archaelysin family metallopeptidase 2 pseudogene 1 INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 17 17 17 q24.1 59533914 59542949 - 62962668 62971703 - 64966550 64975585 - 6480464 12477932;14702039;15489334;22990118 201283 ABBA01029054;AC037487;AK056627;AK311317;AMYH02033801;BC003669;BC063466;BC073870;BX537538;CH471099;NR_026903 BAB71235;EAW88989;EAW88990;EAW88991;EAW88992 Hs.396447 1666206;1677632;1847881;1854526;1856223 D17S1394E;D17S2023;G19285;RH27229;RH77729 DKFZp686D22101;FLJ32065;MGC90301 APPROVED pseudo ENSG00000214174 HGNC:26491 08720 VALIDATED 3003936 AMZ2P2 archaelysin family metallopeptidase 2 pseudogene 2 6 6 6 159794719 159795837 - 159146722 159147840 - 158725690 158726808 - 100421018 ABBA01021083;AL589931;AMYH02014854;NG_022335;NG_029794 pseudo HGNC:38072 INFERRED 1353292 ANAPC1 anaphase promoting complex subunit 1 This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011] 2 2 2 q12.1 106403649 106465406 + 112525214 112641765 - 111767637 111884188 - 1580863;6480464;6907045;8554872 10318877;10500174;10548110;10793135;10922056;11076961;11179223;11179667;11285280;11340163;11438673;11535616;11742988;12070128;12477932;12956947;14593737;14657031;14702039;15029244;15252450;15302935;15489334;16364912;16565220;16921029;17643375;17827148;17942546;18485873;18535175;18622497;18997788;19535905;19826003;19826416;20064487;20080579;20360068;21043528;21139048;21402913;21454540;21549307;21633387;21890473;21906983;21963094;21987572;22014574;22190034;22193957;22377092;22504420;22505724;22586326;22939629;22990118;23007861;23022380;23078409;23160376;23213260;23251661;23263983;23314748;23637229;23667531;23817571;23979597;24163370;24250222;24255178;25043029 64682 F8WAS1;H0Y564;Q9H1A4 ABBA01005792;ABBA01005793;ABBA01016295;ABBA01221145;ABBA01232815;AC093166;AC104651;AI421643;AJ278357;AK023807;AK094527;AL832013;AMYH02004577;BC005089;BC104902;BC104904;BX282336;CH471245;DQ786300;NM_022662;XM_006712690;XM_006712691 AAH05089;AAI04903;AAI04905;BAB14687;CAC19484;EAW52095;NP_073153;Q9H1A4;XP_006712753;XP_006712754 Hs.436527 1673887;1769926;2115861;5022651 D11S2921;D2S2914;G16417;RH65352 APC1;MCPR;TSG24 OTTHUMP00000161951;OTTHUMP00000203537;anaphase-promoting complex 1 (meiotic checkpoint regulator);anaphase-promoting complex subunit 1;cyclosome subunit 1;mitotic checkpoint regulator;testis-specific gene 24 protein APPROVED protein-coding ENSG00000153107 HGNC:19988 09769 608473 VALIDATED 1318993 ANAPC10 anaphase promoting complex subunit 10 ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011] 4 4 4 q31 143243840 143346710 - 145915727 146019693 - 144994575 145098541 - 6480464;6907045;8554872 10318877;10498862;10548110;10793135;10827173;10922056;11230166;11285280;11340163;11524682;11535616;11739784;11742988;12070128;12477932;12956947;14593737;14657031;15029244;15144564;15146197;15489334;15489335;16364912;17540176;18485873;18997788;20080579;20360068;21043528;21139048;21186364;21336306;21890473;21906983;22193957;22505724;22792066;22939629;22990118;23007861;23078409;24144296;24816145;25043029 10393 D6R9Q5;D6RA92;D6RB36;D6RD74;Q9UM13 AB012109;ABBA01070020;ABBA01070021;ABBA01070022;ABBA01070023;ABBA01070024;AC096757;AC097649;AF132794;AL080090;AMYH02010247;AMYH02010248;AV757106;BC005217;BF693880;BG494966;BG530912;BI488888;BU175327;BU567906;CH471056;CN305215;CV023091;DQ304649;NM_001256706;NM_001256707;NM_001256708;NM_001256709;NM_001256710;NM_001256711;NM_001256712;NM_014885;NR_046345;XM_006714058;XM_006714059;XM_006714060;XM_006714061 AAD30527;AAH05217;AAY40941;ABB96248;ACE86568;ACE87250;ADZ15958;BAA86953;CAB45705;EAX05050;EAX05051;EAX05052;EAX05053;NP_001243635;NP_001243636;NP_001243637;NP_001243638;NP_001243639;NP_001243640;NP_001243641;NP_055700;Q9UM13;XP_006714121;XP_006714122;XP_006714123;XP_006714124 Hs.480876 1650584;1683858;1768133;2152828;2162717 D4S1291;D4S307;G34382;RH93603;SHGC-67673 APC10;DKFZp564L0562;DOC1 OTTHUMP00000220297;OTTHUMP00000220298;OTTHUMP00000220299;OTTHUMP00000220300;OTTHUMP00000220301;OTTHUMP00000220303;OTTHUMP00000220304;anaphase-promoting complex subunit 10;cyclosome subunit 10 APPROVED protein-coding ENSG00000164162 HGNC:24077 16488 613745 VALIDATED 2293158 ANAPC10P1 anaphase promoting complex subunit 10 pseudogene 1 1 1 1 p32.3 51005803 51006631 + 52719239 52720067 + 52253567 52254395 + 729198 ABBA01074777;AC105754;AMYH02001016;NG_007660 ANAPC10P APPROVED pseudo HGNC:33976 INFERRED 1346286 ANAPC13 anaphase promoting complex subunit 13 This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008] 3 3 3 q22.2 132622829 132631147 - 134196546 134204865 - 134477704 134486023 - 737633;6480464;6907045 12477932 11752456;14702039;15060174;15146197;15489334;16364912;18391952;18485873;20080579;20360068;20546612;20846217;21043528;22939629;23078409;24250222;25043029 25847 A8K3Z6;Q9BS18 ABBA01059155;AC010207;AF086169;AK001285;AK026550;AK290761;AL050051;AMYH02007722;AV682398;BC005398;BG428689;BU627217;BU852706;BX537696;CH471052;CN258858;NM_001242374;NM_001242375;NM_015391 AAH05398;BAF83450;CAB43251;EAW79143;EAW79144;EAW79145;EAW79146;EAW79147;EAW79148;EAW79149;NP_001229303;NP_001229304;NP_056206;Q9BS18 Hs.106909 1848135;1849906 D3S2877E;RH11514 APC13;DKFZp566D193;SWM1 OTTHUMP00000216544;OTTHUMP00000216545;OTTHUMP00000216546;OTTHUMP00000216547;anaphase-promoting complex subunit 13;cyclosome subunit 13;cylosome subunit 13;homolog of yeast Swm1 APPROVED protein-coding ENSG00000129055 HGNC:24540 08531 614484 REVIEWED 1343647 ANAPC11 anaphase promoting complex subunit 11 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN protein K11-linked ubiquitination; protein ubiquitination; PARTICIPATES IN cell cycle pathway, mitotic; ubiquitin/proteasome degradation pathway; FOUND IN anaphase-promoting complex; nucleus; INTERACTS WITH 17beta-estradiol; 2-methylcholine; Aroclor 1254 17 17 17 q25.3 76422607 76462372 + 79849599 79858363 + 81890790 81900533 + 1580863;6480464;6907045 10230407;10548110;10793135;10922056;11042152;11285280;11340163;11535616;11573242;11739784;11742988;12070128;12234927;12477932;12956947;14593737;14657031;14702039;15029244;15256223;15489334;16341674;16364912;16455800;16712791;16921029;17227951;17360335;18485873;18662541;18997788;19475398;19690564;19826003;19826416;20080579;20360068;20733055;20826619;21874044;21926987;21937719;21988832;22014574;22493164;22529100;22580460;23007861;23007976;23078409;23708001;23708605;23791783;23972993;24163370;24250222;24302728;25043029 51529 J3KSK3;J3QL35;J3QS46;Q9NYG5 AA356010;ABBA01019648;ABBA01019649;ABBA01019650;ABBA01019651;ABBA01019652;AC145207;AF151048;AF247565;AF247789;AI356704;AK091360;AK307214;AK308091;AMYH02034143;AW965775;AX061622;AX588227;AX588228;AX588229;AX588230;AX588231;AX588544;BC000607;BC066308;BC095454;BC104641;BC171892;BC171898;BC171899;BC171900;BF435042;BF512771;BG707824;BM762129;BM845909;BU554167;BU556841;BY796995;CA335305;CB106395;CH471099;DB501853;DB573049;HY067392;HY142453;NM_001002244;NM_001002245;NM_001002246;NM_001002247;NM_001002248;NM_001002249;NM_001289414;NM_001289415;NM_001289416;NM_001289417;NM_001289418;NM_001289419;NM_001289420;NM_016476 AAF36134;AAF65816;AAH00607;AAH66308;AAH95454;AAI04642;AAI71892;AAI71898;AAI71899;AAI71900;AAL95694;CAC24983;CAD61452;CAD61453;CAD61454;CAD61455;CAD61456;CAD61597;EAW89700;EAW89701;EAW89702;EAW89703;NP_001002244;NP_001002245;NP_001002246;NP_001002247;NP_001002248;NP_001002249;NP_001276343;NP_001276344;NP_001276345;NP_001276346;NP_001276347;NP_001276348;NP_001276349;NP_057560;Q9NYG5 Hs.534456 1734536;1775296;2107829;2115369;2147438 A006A06;ALY_7964;D17S1466E;RH16023;RH65274 APC11;Apc11p;HSPC214;MGC882 APC11 anaphase promoting complex subunit 11 homolog;anaphase promoting complex subunit 11 (yeast APC11 homolog);anaphase-promoting complex subunit 11;cyclosome subunit 11;hepatocellular carcinoma-associated RING finger protein protein-coding ENSG00000141552 HGNC:14452 12452 614534 VALIDATED 1601769 ANAPC15 anaphase promoting complex subunit 15 INVOLVED IN regulation of mitotic cell cycle spindle assembly checkpoint; FOUND IN anaphase-promoting complex; intracellular; INTERACTS WITH cobalt dichloride; cyclosporin A; elemental selenium 11 11 11 q13.4 69122580 69125769 - 71820633 71823822 - 72109587 72112776 - 6480464 11042152;11230166;11256614;12477932;15146197;15489334;17207965;21926987;23007861;23078409;23160376;24250222;25043029;8125298 25906 F5GWM6;F5GXB9;F5H2T3;F5H3R3;F5H6E4;F8WDQ6;G5EA39;P60006 ABBA01017542;AF077206;AK222622;AK311146;AL080071;AMYH02025075;AP000812;BC005156;BC005393;BE616852;BG752082;BG764016;BU532056;BU856100;BU930156;CD049337;CH471076;CN306434;HY080534;NG_021423;NM_001278485;NM_001278486;NM_001278487;NM_001278488;NM_001278489;NM_001278490;NM_001278491;NM_001278492;NM_001278493;NM_001278494;NM_014042;XM_005273885;XM_005273886;XM_005273887;XM_005273888;XM_006718492 AAD27001;AAH05156;AAH05393;ACE86562;ACE87244;ADQ32392;CAB45698;EAW74838;EAW74839;EAW74840;EAW74841;EAW74842;NP_001265414;NP_001265415;NP_001265416;NP_001265417;NP_001265418;NP_001265419;NP_001265420;NP_001265421;NP_001265422;NP_001265423;NP_054761;P60006;XP_005273942;XP_005273943;XP_005273944;XP_005273945;XP_006718555 Hs.38044 1683379;1847699 RH44914;RH92229 APC15;C11orf51;DKFZp564M082;HSPC020 OTTHUMP00000237102;OTTHUMP00000237103;OTTHUMP00000237104;OTTHUMP00000237105;OTTHUMP00000237106;OTTHUMP00000237107;OTTHUMP00000237108;OTTHUMP00000237109;OTTHUMP00000237110;anaphase-promoting complex subunit 15;hypothetical protein LOC25906;uncharacterized protein C11orf51 APPROVED protein-coding ENSG00000110200 HGNC:24531 13172 614717 VALIDATED 1345646 ANAPC16 anaphase promoting complex subunit 16 INVOLVED IN protein ubiquitination; FOUND IN anaphase-promoting complex; cytoplasm; INTERACTS WITH 17beta-estradiol; arsane; arsenic atom 10 10 10 q22.1 67259517 67279309 + 73975758 73995618 + 72216000 72235860 + 737633;6480464 12477932 14702039;15164054;15489334;15851553;16341674;16344560;18029348;18851979;19232044;19322201;20080579;20360068;21043528;21906983;22193957;22990118;23078409;23443559;24250222;25043029 119504 C5H3H2;Q96DE5 ABBA01020358;ABBA01020359;ABBA01020360;AI038150;AK023981;AL607035;AMYH02023308;AMYH02023309;AMYH02023310;AMYH02023311;BC009530;BF975718;BM768948;CB984695;CD511334;CD724246;CH471083;DA310509;DA739927;EU552924;NM_001242546;NM_001242547;NM_001242548;NM_173473;NR_038391;NR_038392 AAH09530;ACD68153;EAW54448;EAW54449;EAW54450;EAW54451;NP_001229475;NP_001229476;NP_001229477;NP_775744;Q96DE5 Hs.426296 2165308;2165310;5015861;5020740;5022578;5037552;5109362;7185938 A006H35;D10S16;D17S1239;D1S1423;D8S2279;G20818;L17809 APC16;C10orf104;CENP-27;FLJ33728;MSAG;bA570G20.3 OTTHUMP00000019780;anaphase-promoting complex subunit 16;centromere protein 27;cyclosome subunit 16;metabolic syndrome-associated protein APPROVED protein-coding ENSG00000166295 HGNC:26976 12554 613427 VALIDATED 6767436 ANAPC1P1 anaphase promoting complex subunit 1 pseudogene 1 2 2 p11.2 87088948 87122165 + 86861825 86895042 + 100286979 ABBA01075795;ABBA01075796;ABBA01075797;ABBA01075798;ABBA01075799;AC083899;AC092651;AC111200;AC125232;AK310642;AMYH02004205;KF456683;NR_037931 Hs.731217 1673887;1769926;1775201;2115861 D2S2914;G16417;RH65352;RH78790 pseudo ENSG00000233673 HGNC:44150 PROVISIONAL 1315264 ANAPC4 anaphase promoting complex subunit 4 A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 p15.2 25827551 25868815 + 25378848 25420120 + 25377213 25418498 + 1580863;6480464;6907045;8554872 10318877;10500174;10548110;10793135;10922056;11076961;11285280;11340163;11535616;11742988;12070128;12477932;12956947;14593737;14657031;14684825;14702039;15029244;16364912;16921029;17554300;18471975;18485873;19471022;19531213;19535905;19826416;20080579;20360068;20686030;20733055;20966902;21043528;21139048;21241890;21335556;21336306;21693764;21890473;21926987;22014574;22145905;22193957;22939629;22990118;23000965;23007861;23078409;23160376;23443559;23667531;23979597;24163370;25027693;25043029;6180011;8889548;9469815 29945 B3KN47;D6RAP6;D6RFM7;Q9UJX5 ABBA01032696;ABBA01032697;AC108218;AC110812;AF191338;AK001881;AK023562;AK023597;AK292336;AL353932;AMYH02008911;AY429517;AY429518;BC059383;BI546948;CA312572;CH471069;NM_001286756;NM_013367;XM_005248159;XM_006713961;XR_427487 AAF05752;AAH59383;BAF85025;BAG51209;CAB89245;EAW92839;EAW92840;NP_001273685;NP_037499;Q9UJX5;XP_005248216;XP_006714024 Hs.152173 1664313;1664315;1667031;1689462;1785078;2139198;2184419;5094864 ANAPC4;D4S2517E;D4S2679;RH92873;SHGC-154840;SHGC-24100;SHGC-50273;SHGC-59815 APC4 OTTHUMP00000123382;OTTHUMP00000218479;anaphase-promoting complex subunit 4;cyclosome subunit 4 APPROVED protein-coding ENSG00000053900 HGNC:19990 09505 606947 REVIEWED 1313636 ANAPC2 anaphase promoting complex subunit 2 A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 110583566 110597088 - 140069236 140083057 - 137174784 137188605 - 1580863;6480464;6907045 10230407;10318877;10500174;10548110;10718198;10793135;10922056;11076961;11285280;11340163;11438673;11535616;11691822;11739784;11742988;12070128;12234927;12477932;12956947;14508008;14593737;14657031;15029244;15164053;15231748;15489334;16287863;16319895;16364912;16648845;16921029;16964243;17187060;17403670;17443186;18485873;18854154;18976975;20080579;20360068;21043528;21135578;21139048;21145461;21186356;21439932;21549307;21768287;21890473;21900206;21903591;21906983;21937719;21963094;21987572;22190034;22193957;22280307;22505724;22939624;22939629;22990118;23007861;23078409;23443559;23667531;23708001;23979597;24163370;24250222;24804778;25043029;9469815;9637688;9811605 29882 B4DGH7;Q9UJX6 AB037827;ABBA01022747;AF191337;AK294601;AK296204;AL929554;AMYH02021925;BC001579;BC009487;BC032503;BC033579;BM925063;BU526961;CH471090;NM_013366 AAF05751;AAH01579;AAH09487;AAH32503;ABM81778;ABM84933;BAA92644;BAG57788;BAG58931;EAW88361;NP_037498;Q9UJX6 Hs.533262 1680713;1851107;2109889 RH75093;RH78795;SSNA1_7924 APC2;RP11-350O14.5 OTTHUMP00000022692;anaphase-promoting complex subunit 2;cyclosome subunit 2 APPROVED protein-coding ENSG00000176248 HGNC:19989 07367 606946 REVIEWED 1344930 ANAPC7 anaphase promoting complex subunit 7 This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 12 12 12 q24.11 110436800 110468040 - 110810705 110841535 - 110372900 110403737 - 1580863;6480464;6907045 10318877;10477750;10500174;10548110;10793135;10922056;11076961;11285280;11340163;11535616;11742988;12070128;12477932;12956947;14593737;14657031;14702039;15029244;15489334;15743504;16196087;16319895;16344560;16364912;16861917;16921029;17942546;18162579;18485873;18685082;18789487;18997788;19091741;19454010;19471022;19531213;19615732;19826003;19826416;20080579;20360068;21043528;21139048;21145461;21241890;21549307;21596315;21693764;21890473;21906983;21926987;21963094;21987572;22053931;22193957;22505724;22792066;22797925;22939629;22990118;23000965;23007861;23022380;23078409;23160376;23314748;23383273;23443559;23667531;23979597;24250222;24816145;25043029;8619474;9110174;9469815 51434 H0YIW2;H0YIX7;Q4KMX6;Q69YV3;Q9UJX3 ABBA01005098;ABBA01005099;ABBA01005100;ABBA01005101;ABBA01005102;ABBA01005103;AC144548;AF191340;AK021809;AL137586;AL157481;AMYH02027182;AMYH02027183;AMYH02027184;AY007104;BC002941;BC009498;BC017316;BC040130;BC098264;BC098295;BC098362;BC099732;BC111798;BC141848;BC148236;BG105587;CH471054;DB003237;NM_001137664;NM_016238;XM_005253903;XM_006719450;XR_243015 AAF05754;AAH02941;AAH09498;AAH17316;AAH98264;AAH98295;AAH98362;AAH99732;AAI11799;AAI41849;AAI48237;BAG51054;CAB70828;CAH10690;EAW97909;EAW97910;EAW97911;NP_001131136;NP_057322;Q9UJX3;XP_005253960;XP_006719513 Hs.719935 1673197;1740021;2122754;2133430;2152078;5017433 D12S1570;D12S2011;NIB1273;RH78491;STS-T76997;WI-12246 APC7 OTTHUMP00000211290;OTTHUMP00000211291;anaphase-promoting complex subunit 7;cyclosome subunit 7 APPROVED protein-coding ENSG00000196510 HGNC:17380 16233 606949 REVIEWED 1353092 ANCR Angelman syndrome chromosome region ASSOCIATED WITH Angelman Syndrome (inferred) 7240710 282 HGNC:482 105830 1314558 ANAPC5 anaphase promoting complex subunit 5 This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008] 12 12 12 q24.31 121383688 121428561 - 121746048 121792012 - 121308245 121354209 - 6480464;6907045 10318877;10500174;10548110;10793135;10922056;11076961;11285280;11340163;11401522;11535616;11742988;12070128;12477932;12956947;14593737;14657031;14702039;15029244;15082755;15302935;15489334;15761153;16169070;16319895;16364912;16861917;16921029;17827148;18162579;18485873;19531213;19826416;20080579;20360068;20686030;21043528;21139048;21145461;21241890;21549307;21596315;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22193957;22505724;22580462;22792066;22939629;22990118;23007861;23022380;23078409;23160376;23667531;23979597;24163370;24255178;25015289;25043029;7566098;9469815 51433 B4DFK4;F5GY68;F5GZ05;F5H0F9;F5H0N1;F5H3S5;H0YFB5;Q9UJX4 AA349724;ABBA01020157;ABBA01020158;ABBA01020159;ABBA01020160;AC048337;AC069209;AF191339;AI879332;AK025614;AK054779;AK294139;AK301197;AK315451;AMYH02027393;BC001081;BC001950;BC003095;BC006301;BC034243;BC045686;BX381618;BX537687;CH471054;NM_001137559;NM_016237;XM_005253900;XM_006719449 AAF05753;AAH01081;AAH01950;AAH06301;AAH34243;AAH45686;BAG51422;BAG57465;BAH13429;CAD97812;EAW98259;EAW98260;EAW98261;NP_001131031;NP_057321;Q9UJX4;XP_005253957;XP_006719512 Hs.7101 1653567;1707940;1746323;1746447;1848161;1848163;5125284 A001Z45;G19833;G64569;G64617;HSC2OG072;SHGC-34758;SHGC-82223 APC5 OTTHUMP00000240249;OTTHUMP00000240250;OTTHUMP00000240251;anaphase-promoting complex subunit 5;cyclosome subunit 5 APPROVED protein-coding ENSG00000089053 HGNC:15713 10453 606948 REVIEWED 1314740 ANGEL1 angel homolog 1 (Drosophila) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; atrazine; disodium selenite 14 14 14 q24.3 57292199 57317888 - 77248076 77292606 - 76787243 76826263 - 6480464;8554872 11943475;12477932;12508121;18029348;21906983;9872452 23357 G3V414;G3V437;G3V5C4;Q9UNK9 AB018302;ABBA01030670;ABBA01030671;AF111169;AF275805;AK025609;AK301069;AK301589;AL137268;AMYH02029554;AMYH02029555;AMYH02029556;BC028714;CH471061;DB452865;HG506397;NM_015305;XR_429300;XR_429301;XR_429302 AAD44362;AAH28714;BAA34479;BAG62676;BAG63079;CAB70667;EAW81261;EAW81262;EAW81263;NP_056120;Q9UNK9 Hs.497448 1666535;1673697;1740123;2174436 D14S905;G35980;RH44775;WI-14582 Ccr4e;FLJ60172;KIAA0759;RP11-488C13.5 OTTHUMP00000246196;protein angel homolog 1 protein-coding ENSG00000013523 HGNC:19961 13815 VALIDATED 1349500 ANG angiogenin, ribonuclease, RNase A family, 5 The protein encoded by this gene is an exceedingly potent mediator of new blood vessel formation. It hydrolyzes cellular tRNAs resulting in decreased protein synthesis and is similar to pancreatic ribonuclease. In addition, the mature peptide has antimicrobial activity against some bacteria and fungi, including S. pneumoniae and C. albicans. Alternative splicing results in two transcript variants encoding the same protein. This gene and the gene that encodes ribonuclease, RNase A family, 4 share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Aug 2014] 14 14 14 q11.1-q11.2 1013208 1023217 + 21152336 21162345 + 20684177 20694186 + 1580863;2325699;2325702;2325704;2325712;2325717;2325697;2325700;2325708;2317659;2325707;2325714;2317660;2325716;2325719;2325706;2325705;2325710;6480464;6892712;6892721;6892714;6892716;6892705;6892708;6892719;6892723;6892707;6892713;6892724;6892710;6892722;6892709;6771318;2307061;6892711;6892718;7240710;8554872;8699517 10421268;11299848;11948474;12653852;12705339;14748845;15236995;15329320;15776477;15912517;16478840;16501576;17462671;17823536;18462761;18808740;18978347;19177252;19178538;19276260;19666176;20629092;21091473;21848603;21916917;22190368;22331014;22449478;22748184;8665497;9119882;9166545;9539780;9748135 10103013;10413501;10648935;10649442;10999833;11374889;11438326;11468363;11751393;11752456;11782452;11847008;11851402;11919285;11984825;12168899;12209593;12477932;12515546;12548285;12770725;12842050;1400510;14593238;14671622;14756559;15064314;15067362;15128420;15166501;15182336;15489334;15557516;15558023;15735021;15737636;15979542;16169070;16322296;16461950;16490744;16567967;16712791;16937522;17113198;17125737;17207965;17703939;17886298;17900154;17991437;18087731;18636464;18852347;18936943;18955785;19158252;19160530;19253715;19262607;19287993;19332886;19363631;19423182;19625371;19631914;1978563;20045391;20105109;20137109;20174961;20301623;20452482;20472325;20484129;20577002;20673868;20838751;20923443;20952631;20955379;21085671;21103661;21154263;21209106;21364907;21375772;21439815;21528671;21539846;21621297;21711968;21778318;21800332;21808991;21919032;21988832;22148849;22194915;22266868;22292798;22292843;22372545;22384259;22438557;22526325;22633874;22694909;2276743;22940420;23229115;23231972;23351638;23379493;23409128;23665167;23851444;23977052;23989187;24122807;2424496;24337645;24356419;2440105;2457905;24659782;2479414;2646638;2730651;2742853;2866794;2866795;3470787;3619929;3663649;7679494;7945327;8127865;8159679;8448182;9122172;9245697;9311977;9461294;9707554;9918722 283 P03950;W0UV28 ABBA01061234;AF449647;AF449648;AF449649;AF449650;AF449651;AK313989;AL163636;AMYH02028826;AV646929;BC020704;BC054880;BC062698;BQ773604;CB157060;CB963791;CH471078;CR407633;FJ236304;HG328835;M11567;NG_008717;NG_033053;NM_001097577;NM_001145 AAA51678;AAH20704;AAH54880;AAH62698;AAL67710;AAL67711;AAL67712;AAL67713;AAL67714;ACI45236;ADQ32136;BAG36701;CAG28561;CDG31911;EAW66450;EAW66451;NP_001091046;NP_001136;P03950 Hs.283749 1668881;1741145;2185370 D14S1338;GDB:178381;RH1630 ALS9;HEL168;MGC22466;MGC71966;RAA1;RNASE4;RNASE5 OTTHUMP00000164019;OTTHUMP00000164020;OTTHUMP00000164021;RNase 5;angiogenin;epididymis luminal protein 168;ribonuclease 5;ribonuclease A A1 APPROVED protein-coding ENSG00000214274 HGNC:483 00105 105850;611895 REVIEWED 1601837 ANGEL2 angel homolog 2 (Drosophila) INTERACTS WITH copper(2+) sulfate; methotrexate; valproic acid 1 1 1 q32.3 186387057 186410696 - 213165524 213189168 - 212992182 213015826 - 6480464 11943475;12477932;14702039;19322201;21139048;21906983;21963094;24163370;24250222;24654937;24778252 90806 B7Z5T0;Q5VTE6;Q96AL9 ABBA01048159;ABBA01048160;AF510741;AI658922;AK022855;AK093947;AK294479;AK295116;AK299208;AK299365;AK310946;AK311276;AL079275;AL592449;AMYH02002652;AMYH02002653;AY468376;BC016966;BC047469;BX103687;CH471100;DA718585;DC395916;NM_001300753;NM_001300755;NM_001300757;NM_001300758;NM_144567;NR_125333;XM_005273344;XM_005273345;XM_005273346;XM_005273347;XM_005273349;XM_006711616;XR_247045 AAH16966;AAH47469;AAM44053;BAH11783;BAH11980;BAH12969;BAH13016;EAW93365;EAW93366;EAW93367;EAW93368;EAW93369;EAW93370;NP_001287682;NP_001287684;NP_001287686;NP_001287687;NP_653168;Q5VTE6;XP_005273401;XP_005273402;XP_005273403;XP_005273404;XP_005273406;XP_006711679 Hs.157078 1644382;1679275;1700014;1734230;1769377;2179428;5015861;5015879;5020948;5024761;7185938 D10S16;D1S1747;G35510;GDB:314949;RH103619;RH36905;RH94312;SHGC-76304;SHGC-76315;WI-14782 Ccr4d;FLJ12793;KIAA0759L OTTHUMP00000035020;OTTHUMP00000035021;protein angel homolog 2 protein-coding ENSG00000174606 HGNC:30534 14279 VALIDATED 733136 ANGPT1 angiopoietin 1 Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010] 8 8 8 q23.1 104448513 104696524 - 108261710 108510254 - 107249482 107498026 - 704373;1580863;1578337;704403;1578345;1578336;1626164;1643339;1643335;1643336;1601496;1643338;1643340;1626162;1626163;1626167;1626168;1626157;2313818;2293864;2293863;2293883;2313817;2293852;2316067;2316068;2316069;2316041;6480464;6907045;8554872 10780674;11326698;11549276;11822892;12000720;12138242;12768384;14759414;15047628;15364619;15459484;15517881;15714275;15754349;16389943;16626513;16942942;17294737;17295646;17356562;17505508;17637706;17935226;18073453;18285514;18344375;19885826 10051567;10218485;10343124;10514510;10706866;10766762;10854239;10944458;11165944;11729102;11776343;11827452;11856872;11870550;11891175;11967990;12168954;12213874;12239588;12243755;12402160;12427764;12477932;12612904;12649156;12717391;12810673;12816861;12890486;12958144;12958167;14561809;14597243;14665640;14672554;14715662;14749497;14978158;14991531;15001532;15019820;15094228;15161644;15198927;15213103;15242771;15284220;15381091;15453096;15498854;15542434;15562207;15692086;15694363;15746084;15769741;15781448;15823283;15851516;15892598;16000309;16020388;16049136;16229183;16354591;16547766;16614513;16645159;16690881;16723371;16803467;16830384;16917117;16956819;17039426;17168735;17322632;17341311;17466926;17525262;17558601;17562701;17603084;17724803;17728252;17785951;17803352;17943167;18035072;18080866;18092380;18199826;18269030;18310225;18326231;18330951;18382887;18425120;18664247;18675456;18807212;18823985;18991494;18996102;19010534;19028450;19082480;19082594;19086654;19127216;19148554;19199708;19223473;19297368;19300530;19301945;19322669;19339077;19351722;19424712;19460752;19476937;19478794;19487284;19543148;19567053;19615361;19674970;19689429;19733541;19815705;19875484;19916173;19919521;19922791;19954476;20036815;20056911;20072144;20098680;20099495;20185425;20208992;20346360;20378606;20471887;20554518;20602615;20629092;20696814;20863203;21042788;21140268;21168819;21179479;21212269;21273558;21300047;21380565;21400522;21660578;21672190;21710361;21778249;21849906;21858121;21878936;21884468;21885850;21905000;21905955;21906428;21948244;21963094;22000910;22015631;22033412;22095586;22143796;22205728;22229541;22235284;22334788;22391155;22449617;22483377;22496856;22583143;22642477;22867989;22901561;22949515;23024612;23099117;23123737;23190105;23232696;23288163;23302768;23382691;23504320;23592718;23652985;23686433;23770419;23785018;23835996;23840065;23989887;24010773;24126820;24315451;24569814;7584026;7584028;7642106;8980223;8980224;9204896;9525952;9545648;9560344;9660821;9723709 284 B4DTQ9;E5RFF4;E7ERK4;Q15389 AB084454;ABBA01037696;AC091010;AK300319;AK304717;AL700429;AMYH02018582;AMYH02018583;AP000428;AP003480;AW069541;AY055342;AY121504;AY124380;BC029406;BC152411;BC152419;BX648814;CH471060;CX867178;D13628;NG_029405;NM_001146;NM_001199859;U83508 AAB50557;AAH29406;AAI52412;AAI52420;AAI66662;AAL59669;AAM81745;AAM92271;ACE86690;ACE87374;BAA02793;BAB91325;BAG62071;BAG65481;CAI45984;EAW91909;EAW91910;EAW91911;EAW91912;NP_001137;NP_001186788;Q15389 Hs.369675 1342148;1672825;1712699;1848002;2218990;5015619;5094713 ANGPT1__4215;Angpt1;D11S3114;D8S383;RH121046;RH17369;RH25244 AGP1;AGPT;ANG-1;ANG1 OTTHUMP00000227592;OTTHUMP00000227599;OTTHUMP00000227600;OTTHUMP00000227626;angiopoietin-1 APPROVED protein-coding ENSG00000154188 HGNC:484 03392 601667 REVIEWED 730844 ANGPT2 angiopoietin 2 The protein encoded by this gene is an antagonist of angiopoietin 1 (ANGPT1) and endothelial TEK tyrosine kinase (TIE-2, TEK). The encoded protein disrupts the vascular remodeling ability of ANGPT1 and may induce endothelial cell apoptosis. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 6334650 6398296 - 6357172 6420784 - 6499651 6563263 - 1580863;1300283;2313815;2313934;2314171;2314177;2314180;2314189;2314193;2314210;1601505;1601496;2314294;2293853;2314178;2314185;2314207;2314239;2314205;2314216;2314174;2314204;2314206;1601493;2314213;2313816;2314233;2314184;2313817;1626166;2293852;6480464 10373119;12737621;12768384;12861074;15047628;15135347;15209761;15637314;15643138;15705099;15823283;16520919;16628643;16714360;16750245;17065527;17295646;17494864;17692314;17849463;18272601;18615861;18692629;18751736;18929864;18929866;18978178;19070926;19672036;19712575 10051567;10343124;10514510;10766762;10964717;11447223;11578860;11856872;11861279;12138242;12176040;12213874;12427764;12477932;12612904;12717391;12810677;14507641;14556828;14568550;14702352;14726409;14767538;14768007;14976056;14991531;15002056;15003510;15094228;15112366;15127326;15161644;15198927;15213103;15284088;15284220;15375511;15489334;15498854;15542434;15562207;15642468;15694966;15734895;15743799;15769741;15893672;16009172;16020388;16129411;16182107;16229183;16242072;16290311;16338068;16344560;16417407;16424009;16458662;16465407;16525658;16538528;16614513;16629644;16690881;16714355;16723371;16790091;16803467;16830384;16877277;16956819;16978237;16978614;17003480;17030814;17141400;17167981;17200776;17258205;17287278;17322632;17341311;17361220;17395886;17409768;17505039;17513791;17558601;17601353;17630849;17673702;17704802;17724803;17785951;17828495;17904634;17928052;17931370;17943167;18006475;18092380;18182823;18269030;18310225;18382887;18483397;18516587;18541195;18564921;18568888;18644593;18664247;18675456;18720385;18727515;18791490;18807212;18952457;18957536;18991494;18996102;19010534;19018553;19082594;19086654;19102939;19112163;19164323;19223473;19226440;19228739;19271210;19300530;19339208;19341361;19351722;19403561;19435449;19438587;19476937;19478794;19499513;19502452;19539650;19543148;19551369;19567053;19616847;19728062;19815705;19875484;19913849;19922791;19954476;20067780;20068079;20072144;20088942;20099495;20179005;20208992;20213583;20348331;20359117;20379614;20382847;20452482;20482750;20501615;20519501;20562294;20583134;20599737;20629092;20670479;20673868;20696814;20806109;20863203;21042788;21081932;21119365;21131273;21143700;21149250;21163858;21168819;21179479;21248670;21257790;21269615;21300047;21337734;21368233;21380565;21400522;21439064;21450636;21565611;21575447;21576085;21603628;21643812;21672190;21680733;21685330;21750433;21762624;21778249;21809353;21849906;21851472;21858121;21884204;21884468;21900206;21948244;21956768;21963094;22000910;22015631;22095586;22142364;22182412;22229541;22279570;22289349;22311497;22327175;22342979;22449617;22483260;22483377;22585576;22640261;22642477;22659681;22728324;22730375;22750392;22770562;22777681;22949515;22972016;22989097;22995870;23024612;23099117;23123737;23149917;23174599;23190105;23190218;23232696;23284823;23302768;23305976;23409162;23419030;23421785;23467610;23503679;23536671;23587231;23649549;23652985;23758184;23785018;23786639;23803577;23826161;23835996;23839000;23899926;23912396;23982687;23989887;24097873;24102428;24106271;24126820;24355874;24373251;24403060;24416201;24421076;24483146;24511140;8125298;9204896;9545648;9660821;9723709;9927494 285 E7EVQ3;O15123 AB009865;ABBA01007058;AC018398;AF004327;AF187858;AF218015;AJ289780;AJ289781;AK075219;AK225698;AK290070;AK310171;AK312541;AMYH02017287;AMYH02017288;AY563557;BC022490;BC126200;BC126202;BC143902;CH471153;CS322905;DA829327;NG_016619;NG_029483;NM_001118887;NM_001118888;NM_001147 AAB63190;AAF76526;AAG17257;AAI26201;AAI26203;AAI43903;AAT69979;ADR83012;BAA95590;BAF82759;BAG35440;CAC08179;CAC08180;CAK96154;EAW80472;EAW80473;EAW80474;NP_001112359;NP_001112360;NP_001138;O15123 Hs.583870 1676612;1707412;1721979;1765359;2140366;2149054;2187306;5020948;5022578;5037552 D1S1423;D8S2279;G35510;G59875;RH47768;RH48380;RH93262;SHGC-148851;SHGC-84494;STS-AA011655 AGPT2;ANG-2;ANG2 OTTHUMP00000115423;OTTHUMP00000224502;OTTHUMP00000224503;Tie2-ligand;angiopoietin-2;angiopoietin-2B;angiopoietin-2a APPROVED protein-coding ENSG00000091879 HGNC:485 03563 601922 REVIEWED 1347249 ANGPTL1 angiopoietin-like 1 Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008] 1 1 1 q25.2 151927509 151949057 - 178818670 178840215 - 178849535 178871236 - 1580863;6480464;8554872 10025962;10051567;10318855;10473614;12477932;12624729;15284220;15489334;15542434;15940350;15950186;16303743;16710414;18182823;18644593;19199708;20819778;23434592;24097068;8125298;8889548;9286704 9068 O95841 AB056476;ABBA01027826;AF086266;AF107253;AK223467;AK300218;AL355520;AMYH02002223;AMYH02002224;AY358278;BC047670;BC050640;BM710120;BX499002;CD356427;CH471067;NM_004673;XM_005245577;XR_241102 AAD19608;AAH50640;AAQ88645;BAB40691;BAD97187;BAG61986;EAW91032;EAW91033;NP_004664;O95841;XP_005245634 Hs.591474 1699170;1774355;1797278;2156716 ANGPTL1_2107;RH103165;SHGC-57465;SHGC-75984 ANG-3;ANG3;ANGPT3;ARP1;AngY;KIAA0351;UNQ162;dJ595C2.2 OTTHUMP00000033048;OTTHUMP00000038514;angioarrestin;angiopoietin 3;angiopoietin Y1;angiopoietin-3;angiopoietin-like protein 1;angiopoietin-related protein 1;dJ595C2.2 (angiopoietin Y1) APPROVED protein-coding ENSG00000116194 HGNC:489 04851 603874 REVIEWED 1316792 ANGPT4 angiopoietin 4 Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The mechanism by which they contribute to angiogenesis is thought to involve regulation of endothelial cell interactions with supporting perivascular cells. The protein encoded by this gene functions as an agonist and is an angiopoietin. [provided by RefSeq, Jul 2008] 20 20 20 p13 949565 993228 - 852763 896977 - 872120 916334 - 1580863;6480464;8554872 10025962;10051567;10218486;10343124;11076863;11780052;11856872;12477932;12624729;12958144;15198927;15284220;15489334;15542434;15851516;16790085;17724803;19204726;19913121;20596041;20628086;20819778;20823154;21603628;22267746;24760148 51378 Q9Y264 ABBA01053760;ABBA01053761;AF074332;AF113708;AK304756;AL050325;AL161939;AMYH02036562;BC111976;BC111978;CH471133;CS322907;CS322909;KF456786;KF456787;NM_015985;XM_005260720;XM_006723567 AAD21587;AAD31728;AAI11923;AAI11977;AAI11979;AAI18496;BAG65511;CAK96135;CAK96155;EAX10654;NP_057069;Q9Y264;XP_005260777;XP_006723630 Hs.278973 2109035 ANGPT4_9713 AGP4;ANG-3;ANG-4;ANG4;MGC138181;MGC138183 OTTHUMP00000029947;angiopoietin-3;angiopoietin-4;dJ824F16.2 (angiopoietin 4) APPROVED protein-coding HGNC:487 04747 603705 REVIEWED 733949 ANGPTL2 angiopoietin-like 2 Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008] 9 9 9 q34 100504236 100539652 - 129849628 129885044 - 127087349 127122794 - 1580863;6480464 10473614;12477932;12624729;12975309;15164053;15489334;16303743;17207965;17347581;18593905;19056867;19723494;20304962;21983347;22281496;22345152;22556334;22966088;23333801;23469106;23602322;23739531;24448647;24465594;24526691;8619474;9110174 23452 Q8NCH7;Q9UKU9 ABBA01043824;AF007150;AF125175;AK074726;AK075026;AK312876;AL356862;AL598400;AMYH02021676;AY358274;BC012368;CH471090;NM_012098;XM_006717030 AAD55357;AAH12368;AAQ88641;ADQ32778;BAC11164;BAC11358;BAG35727;EAW87649;EAW87650;EAW87651;EAW87652;NP_036230;Q9UKU9;XP_006717093 Hs.653262 1763143;1795356;2117154;5017845;5111056 ANGPTL2;ANGPTL2_1565;RH12756;RH66020;SHGC-146875 ARP2;HARP;MGC8889 OTTHUMP00000022159;OTTHUMP00000022160;angiopoietin-like protein 2;angiopoietin-related protein 2 APPROVED protein-coding ENSG00000136859 HGNC:490 05415 605001 REVIEWED 1346260 ANGPTL3 angiopoietin-like 3 This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metablism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Feb 2013] 1 1 1 p31.3 61352392 61360385 + 63063158 63071976 + 62597487 62606305 + 1580863;1578347;1578346;2314234;6480464;7240710;8554872;8699517 12672813;12909640;15094378 10644446;11877390;12477932;12518032;12565906;12975309;15340161;15489334;16335952;16505486;16531751;17110602;17207965;17681148;18063851;18193043;18193044;18279878;18535744;18596051;18804459;19028676;19060906;19075393;19148283;19282754;19318355;19474742;19487539;19540497;19542565;19656773;19826106;19890028;19936222;20139978;20160193;20360639;20570916;20571754;20595410;20679960;20686565;20714348;20837471;20855565;20864672;20942659;20972250;21691831;21983347;22062970;22095935;22155345;22247256;22286219;22659251;22732211;22896670;22916037;23314748;23661675;23839332;23978712;24097068;24626437;24768220 27329 Q9Y5C1 ABBA01074595;AF152562;AK289426;AK315304;AL138847;AMYH02001143;AY358273;AY569015;BC007059;BC058287;BG562555;BG562798;BG564770;CH471059;FJ515851;NG_028169;NG_033073;NM_014495 AAD34156;AAH07059;AAH58287;AAQ88640;AAS66984;ACS13743;ADQ32112;BAF82115;BAG37708;EAX06583;NP_055310;Q9Y5C1 Hs.209153 1337745;1670676;1797280;2166475 ANGPTL3_2597;D1S3572;D3S2407;RH46994 ANG-5;ANGPT5;ANL3;FHBL2 OTTHUMP00000010719;angiopoietin 5;angiopoietin-5;angiopoietin-like protein 3;angiopoietin-related protein 3 APPROVED protein-coding ENSG00000132855 HGNC:491 10381 604774;605019 REVIEWED 1351491 ANGPTL5 angiopoietin-like 5 FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene; silicon dioxide 11 11 11 q22.1 98922208 98948056 - 101761405 101787253 - 101890674 101916522 - 737633;6480464 12477932 12624729;12975309;15489334;21559522 253935 E9PKF7;Q86XS5 ABBA01039954;AK291523;AMYH02025471;AMYH02025472;AP003383;AY169281;AY358827;BC049170;BC053957;CH471065;NM_178127;XM_006718808 AAH49170;AAO38749;AAQ89186;BAF84212;EAW67006;NP_835228;Q86XS5;XP_006718871 Hs.318370 1681991;1718497 RH122451;RH93179 OTTHUMP00000235685;angiopoietin-like protein 5;angiopoietin-related protein 5;fibrinogen-like protein-coding ENSG00000187151 HGNC:19705 09638 607666 VALIDATED 1344384 ANGPTL4 angiopoietin-like 4 This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013] 19 19 19 p13.3 8285662 8295909 + 8429011 8439257 + 8364127 8374375 + 1625353;1625354;1580863;1578349;1578348;6480464;7240710 12401877;15837923;15863837;17210919 10698685;10866690;11953136;12015030;12438262;12477932;12707035;12975309;14570927;14583458;15190076;15284220;15292369;15489334;15579652;15870027;16049480;16081640;16272564;16303743;16531751;17049073;17068295;17088546;17130448;17207965;17322881;18029348;18340008;18394990;18433990;18442626;18599063;18634015;18728224;18809343;18940399;18974381;19019854;19028676;19060906;19074989;19246456;19270337;19318355;19342599;19542565;19628874;19775228;19826106;19878569;19890028;19913121;20025870;20162021;20454689;20595396;20628086;20660728;20664963;20667978;20686565;20729546;20829508;20927337;20972945;21109191;21151138;21212665;21217681;21308352;21397862;21398697;21421336;21489049;21518214;21596930;21674552;21709421;21714923;21841165;21860410;21937683;21966511;22078753;22086875;22307217;22458843;22462789;22549372;22573825;22639947;22661548;22729570;22732211;22773878;22791755;22820186;22972030;23056264;23183503;23208498;23283507;23319744;23339868;23387337;23518684;23617883;23640487;23925665;23959876;23960078;24097068;24114199;24317117;24324678;24505142;24591600;24626437;8125298 51129 M0QZ51;M0R0N8;M0R2X8;M0R369;M0R3A2;Q9BY76 AB056477;ABBA01010849;AC136469;AF153606;AF169312;AF202636;AK222489;AK222524;AK303269;AMYH02035442;AW954426;AY358275;BC023647;BG424907;BP397348;CH471139;NG_012169;NM_001039667;NM_139314;NR_104213;XM_005272484;XM_005272485 AAD41088;AAF62868;AAG22490;AAH23647;AAQ88642;ADQ32223;BAB40692;BAD96209;BAD96244;BAG64351;EAW68930;EAW68931;NP_001034756;NP_647475;Q9BY76;XP_005272541;XP_005272542 Hs.9613 1681464;1754013;1794942;1797282;2118272;2126971;5019681 ANGPTL4_1969;D19S1090;G32455;PMC85983P1;RH11623;RH67144;SHGC-132057 ANGPTL2;ARP4;FIAF;HARP;HFARP;NL2;PGAR;TGQTL;UNQ171;pp1158 PPARG angiopoietin related protein;angiopoietin-like protein 4;angiopoietin-related protein 4;fasting-induced adipose factor;hepatic angiopoietin-related protein;hepatic fibrinogen/angiopoietin-related protein;peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein APPROVED protein-coding ENSG00000167772 HGNC:16039 16173 605910;615881 REVIEWED 1322443 ANGPTL6 angiopoietin-like 6 INVOLVED IN angiogenesis (inferred); cell differentiation (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 19 19 19 p13.2 10098503 10108914 - 10203013 10215710 - 10092337 10102888 - 6480464 12477932;12871997;12975309;14764539;15231747;16335952;16806062;18464913;19447061;20673930;21460784;22406517;23070965;23400010;23718665;23905605;24250222 83854 K7EKF6;Q8NI99 AB054064;ABBA01029947;ABBA01029948;AC020931;AF230330;AMYH02035484;AY358276;BC142632;CH471106;NM_031917;XM_005260091 AAI42633;AAK06404;AAQ88643;BAB91248;EAW84071;EAW84072;NP_114123;Q8NI99;XP_005260148 Hs.712850 1650218;1777662;2218724 ANGPTL6__4301;D19S1125;RH11710 AGF;ARP5 angiopoietin-like protein 6;angiopoietin-related growth factor;angiopoietin-related protein 5;angiopoietin-related protein 6 protein-coding ENSG00000130812 HGNC:23140 12453 609336 VALIDATED 1350833 ANGPTL7 angiopoietin-like 7 INVOLVED IN response to oxidative stress (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH aflatoxin B1; raloxifene; tert-butyl hydroperoxide 1 1 1 p36 10361738 10368376 + 11249346 11256038 + 11189289 11195981 + 1580863;6480464 11426320;11682471;12107410;12477932;12975309;15340161;15489334;16710414;17695521;18421092;21199193;21697133;21832049;8026862;8144038;9727400 10218 O43827 AB593026;AB593027;ABBA01003045;AJ300188;AK313716;AL049653;AL391561;AMYH02000285;AY358301;BC001881;BT009802;CA391009;CH471130;DQ012507;NG_033239;NM_021146;Y16132 AAH01881;AAP88804;AAQ88668;AAY22173;ABM83481;ABM86692;BAG36459;BAJ83980;BAJ83981;CAA76078;CAC15571;EAW71685;NP_066969;O43827 Hs.146559 2130327 SHGC-74210 AngX;CDT6;RP4-647M16.2;dJ647M16.1 OTTHUMP00000001986;angiopoietin-like factor (CDT6);angiopoietin-like protein 7;angiopoietin-related protein 7;cornea-derived transcript 6 protein protein-coding ENSG00000171819 HGNC:24078 10818 VALIDATED 6483645 ANHX anomalous homeobox ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 12 12 12 q24.33 133495083 133512684 - 133794898 133812422 - 133218312 133236220 - 11181995;14702039;16344560 647589 E9PGG2 ABBA01042527;AC226150;AK057223;AMYH02027598;CH471218;DB032853;KF455743;NM_001191054;XM_006719743 BAB71386;E9PGG2;EAW54785;NP_001177983;XP_006719806 Hs.703008 1341842;1683074;1766153 D12S2341;RH99248;SHGC-149528 anomalous homeobox protein;hCG2007354;uncharacterized protein LOC647589 protein-coding ENSG00000227059 HGNC:40024 VALIDATED 1320055 ANK1 ankyrin 1, erythrocytic Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008] 8 8 8 p11.1 40459268 40702528 - 41510744 41754280 - 41653225 41896762 - 1599109;1599110;1578350;1580863;6480464;7240710;8554872;8699517 8640229;9202331;9378703 10893266;10910934;11222639;11372755;11427698;12019270;12130521;12409278;12444090;12456646;12477932;12527750;12543979;12631729;12719424;15040428;15051494;15489334;15929114;16580865;16597699;16718373;16762928;1689849;16962094;17128827;17207965;17520478;17716929;17720975;1833445;18768923;18987618;20379614;20479128;20858683;21071415;21099109;21177872;2137557;2141335;21493712;22348230;22424883;22456796;22573887;22968456;23013433;23457408;24654937;2968981;2970468;2971657;379653;492324;6449514;7505012;8125298;8159688;8227202;8385102;8681137;8703812;9024692;9235914;9430667;9519902;9587054;9628825;9804856 286 B3KX39;C9JN86;H0YAY8;H0YBS0;P16157;Q6PK32 AA404587;AB209418;ABBA01021136;ABBA01021137;ABBA01021138;AC027702;AC113133;AI167814;AI684839;AK126647;AK129864;AK223578;AMYH02017883;BC007930;BC014467;BC030957;BC117121;BX647936;CH471080;F28948;KF495800;KF511071;M28880;N63745;NG_012820;NM_000037;NM_001142445;NM_001142446;NM_020475;NM_020476;NM_020477;NM_020478;NM_020480;S82671;U49691;U50092;U50133;X16609;XM_005273476 AAA51732;AAB46776;AAB47804;AAB47805;AAH07930;AAH30957;AAI17122;AAI56402;ADQ32237;BAD92655;BAD97298;BAG54351;CAA34610;CAA34611;EAW63241;EAW63242;EAW63243;EAW63244;EAW63245;EAW63246;EAW63247;EAW63248;EAW63249;EAW63250;NP_000028;NP_001135917;NP_001135918;NP_065208;NP_065209;NP_065210;NP_065211;NP_065213;P16157;XP_005273533 Hs.654438;Hs.667377;Hs.708861 1666738;1670319;1675017;1681187;1689067;1694670;1716737;1721389;1730791;1754039;1761021;1855025;1855260;2115674;2126501;2150605;2152733;2156708;2165580;2180189;7184748 D8S2039;D8S2070;D8S2329;D8S311;D8S329;G19345;G43516;G59696;GDB:178523;RH121660;RH45454;RH46517;RH69660;RH79857;RH91316;SHGC-12309;SHGC-132081;SHGC-144984;STS-W88737;WI-11722 ANK;ANK-1;SPH1;SPH2 OTTHUMP00000196860;OTTHUMP00000196861;OTTHUMP00000196862;OTTHUMP00000196863;OTTHUMP00000196864;OTTHUMP00000225819;OTTHUMP00000225820;OTTHUMP00000225822;ankyrin-1;ankyrin-R;erythrocyte ankyrin APPROVED protein-coding ENSG00000029534 HGNC:492 01693 182900;612641 REVIEWED 2301773 ANKDD1B ankyrin repeat and death domain containing 1B INVOLVED IN signal transduction (inferred) 5 5 5 q13.3 70800866 70858526 + 74907301 74967671 + 75611476 75671846 + 15372022;20379614 728780 A6NHY2 ABBA01061945;ABBA01061946;AC010245;AK307154;AMYH02011590;AMYH02011591;AMYH02011592;CH471084;KC877026;NM_001276713 A6NHY2;EAW95766;NP_001263642 Hs.370455 1728963;1773239 D13Gor3;RH46462 OTTHUMP00000231493;ankyrin repeat and death domain-containing protein 1B;ankyrin repeat and death domain-containing protein ENSP00000345065 protein-coding ENSG00000189045 HGNC:32525 VALIDATED 1317291 ANK2 ankyrin 2, neuronal This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011] 4 4 4 q25-q27 111031065 111596545 + 113739239 114304896 + 112818083 113383740 + 1599109;1599110;734572;1599114;1599116;6480464;6767284;7240710;8554872;8699517 12571597;12949909;15178757;21859974;9202331;9378703 10579720;11149946;11449000;11781319;12477932;12527750;14593108;14657231;14702039;15075330;15146197;15262991;15310273;15611082;15647482;15851119;16253912;16292983;16597699;16864073;17043677;17081983;17161064;17178715;17242276;17456239;17474147;17940615;18052691;18275062;1830053;18303017;1833308;18782775;18790697;18832177;19098452;19109891;19913121;20031550;20080650;20195357;20332099;20379614;20471030;20573981;20628086;20682791;21139048;21890473;22219177;22778271;22861190;23142288;23569209;23720494;24315451;2968981;7485162;8253844;8619474;9110174;9832558 287 B7Z651;D6R9U4;D6RHC5;D6RHE1;D6RIY9;E9PCH6;E9PHW9;H0Y8X8;H0Y8Y2;H0Y931;H0Y933;H0YAG3;I6L894;Q01484 ABBA01063822;ABBA01063823;ABBA01063824;ABBA01063825;ABBA01063826;ABBA01063827;ABBA01063828;ABBA01063829;ABBA01063830;ABBA01063831;ABBA01063832;AC004057;AC017007;AC093617;AC093879;AC093900;AC108042;AF131823;AK021894;AK095596;AK128049;AK294720;AK299767;AK299815;AK299893;AK307601;AL706912;AMYH02009941;AMYH02009942;AMYH02009943;AMYH02009944;AMYH02009945;AMYH02009946;AMYH02009947;AMYH02009948;AMYH02009949;BC017986;BC047498;BC125235;BC125236;BQ716903;BQ890406;BX537758;BX538132;BX538239;CH471057;CN259048;DQ925692;DQ925693;M37123;NG_009006;NM_001127493;NM_001148;NM_020977;X56957;X56958;XM_005262942;XM_005262945;XM_005262948;XM_006714187;XM_006714188;XM_006714189;XM_006714190;XM_006714191;XM_006714192;XM_006714193;XM_006714194;Z26634 AAA62828;AAI25236;AAI25237;ABL59919;ABL59920;BAH11860;BAH13122;BAH13137;BAH13164;CAA40278;CAA40279;CAB42644;CAD97827;CAD98033;CAD98077;EAX06287;EAX06288;EAX06289;EAX06290;EAX06291;EAX06292;NP_001120965;NP_001139;NP_066187;Q01484;XP_005262999;XP_005263002;XP_005263005;XP_006714250;XP_006714251;XP_006714252;XP_006714253;XP_006714254;XP_006714255;XP_006714256;XP_006714257 Hs.620557 1339569;1649045;1652819;1656649;1660795;1661781;1668588;1674549;1677342;1678983;1696046;1704590;1705846;1707732;1708502;1710846;1714523;1754333;1765237;1775651;1777565;1858070;2136983;2177103;2217010;5022200;5022651 AFM186xb4;ANK2_3170;D11S2921;D4S2309;D4S2542E;L18426;NIB1562;RH119774;SHGC-11962;SHGC-132360;SHGC-14389;SHGC-148725;SHGC-23852;SHGC-23907;SHGC-24748;SHGC-50779;SHGC-59287;SHGC-59553;SHGC-67324;SHGC-79494;SHGC-81181;SHGC-82082;SHGC-83104;SHGC-83197;SHGC-84192;WI-19148;WIAF-2193 ANK-2;DKFZp686M09125;DKFZp686P0948;FLJ11832;FLJ38277;FLJ46169;LQT4;brank-2 OTTHUMP00000163833;OTTHUMP00000163834;OTTHUMP00000220392;OTTHUMP00000220393;OTTHUMP00000220397;OTTHUMP00000220398;OTTHUMP00000231464;ankyrin B;ankyrin, brain;ankyrin, nonerythroid;ankyrin-2;ankyrin-2, nonerythrocytic;brain ankyrin;non-erythroid ankyrin APPROVED protein-coding ENSG00000145362 HGNC:493 00110 106410;600919 REVIEWED 1318779 ANK3 ankyrin 3, node of Ranvier (ankyrin G) Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] 10 10 10 q21 55053717 55415045 - 61786056 62493284 - 60026298 60733526 - 734573;1580863;6480464;6767288;6767290;6767305;8699517;7240710;8554872 10915577;19306853;7665168 10893266;10907644;11781319;11807096;11950515;11997395;12036953;12507143;12805291;14694156;14702039;14757759;14761957;15231748;15342556;15611082;15823567;15931389;16377635;16385451;16775201;17033732;17074766;17370265;17373700;17620337;18163421;18180363;18635543;18711365;18768923;19088739;20185149;20351715;20379614;20386566;20636642;20877300;20936779;21037240;21139048;21304963;21395576;21438140;21676128;21702894;21767209;21893642;21926972;21926974;21972176;22118674;22180603;22182935;22328486;22498896;22647524;22688190;22688191;22850628;22865819;22986903;23109352;23129772;23390136;23453885;23715300;23796624;23898208;24108394;24457600;24529757;7836469;8666667 288 B1AQT1;D6RBY7;D6RF31;D6RFK6;D6RHY3;H0Y3A4;H0Y8Z4;H0Y951;H0Y9E9;H0YA66;H0YAH5;Q12955;Q8NAK2 AB209308;ABBA01019458;ABBA01019459;ABBA01019460;ABBA01019461;ABBA01019462;ABBA01019463;ABBA01019464;AC022390;AC023904;AK092361;AK092527;AK124230;AK126851;AK128784;AK292927;AK295661;AL136710;AL359267;AL359377;AL391707;AL592430;AL607065;AMYH02023173;AMYH02023174;AMYH02023175;AMYH02023176;AW451432;BG427669;BP216034;BP245303;BX537917;BX648574;CH471083;EF139851;NG_029917;NM_001149;NM_001204403;NM_001204404;NM_020987;U13616;XM_005269715;XM_005269716;XM_006717782;XM_006717783;XM_006717784;XM_006717785;XM_006717786;XM_006717787;XM_006717788;XM_006717789;XM_006717790;XM_006717791;XM_006717792;XM_006717793;XM_006717794;XM_006717795;XM_006717796;XM_006717797;XM_006717798;XM_006717799;XM_006717800;XM_006717801;XM_006717802;XM_006717803 AAA64834;ACE86862;ACE87550;BAC03910;BAC86721;BAD92545;BAF85616;BAG52538;BAG54022;BAG58523;CAB66645;CAD97900;CAI56716;EAW54199;EAW54200;EAW54201;EAW54202;NP_001140;NP_001191332;NP_001191333;NP_066267;Q12955;XP_005269772;XP_005269773;XP_006717845;XP_006717846;XP_006717847;XP_006717848;XP_006717849;XP_006717850;XP_006717851;XP_006717852;XP_006717853;XP_006717854;XP_006717855;XP_006717856;XP_006717857;XP_006717858;XP_006717859;XP_006717860;XP_006717861;XP_006717862;XP_006717863;XP_006717864;XP_006717865;XP_006717866 Hs.499725 1653049;1666446;1687572;1700520;1727541;1771653;1781878;1787518;1795358;1850045;2110881;2116790;2118990;2141123;2144123;2150169;2156712;2177184;2180377;2184186;2190501;5019679;5024761;5491936 A009D23;ANK3;ANK3_1373;D10S250E;EST12B1;G15868;G17407;G32447;G63028;RH103881;RH15705;RH15734;RH36905;RH64832;RH67964;RH93542;SHGC-105138;SHGC-12959;SHGC-155440;SHGC-2729;SHGC-30886;SHGC-34120;WI-11051;WI-15992 ANK-3;FLJ45464;MRT37 ANKYRIN-G;OTTHUMP00000019653;OTTHUMP00000019656;OTTHUMP00000217458;OTTHUMP00000217575;ankyrin G119;ankyrin-3;ankyrin-3, node of Ranvier APPROVED protein-coding ENSG00000151150 HGNC:494 02715 600465;615493 REVIEWED 1604469 ANKDD1A ankyrin repeat and death domain containing 1A INVOLVED IN signal transduction (inferred); INTERACTS WITH (-)-demecolcine; 5-aza-2'-deoxycytidine; benzene 15 15 15 q22.31 42082165 42129108 + 65204095 65251042 + 64911902 64958700 + 6480464 12477932;22139419 348094 D6RD28;E9PHA0;Q495B1;Q6PI29;Q8TAJ8 ABBA01038865;AC069368;AC103691;AK075298;AK098736;AK307698;AMYH02030616;AMYH02030617;BC027350;BC042002;BC047571;BC047607;BC101273;BC101274;BC101275;BC101276;BC110610;CH471082;DR004550;NM_182703 AAH27350;AAH47607;AAI01274;AAI01275;AAI01276;AAI01277;BAC05399;BAC11532;EAW77702;EAW77703;NP_874362;Q495B1 Hs.207157 1673870;1673872;1738961;1767629;2133937;5020948;5109281 A008V12;D15S553;D15S859;D1S1425;G35510;RH44574;SHGC-33583 FLJ18078;FLJ25870;MGC120305;MGC120306;MGC120307 OTTHUMP00000164083;OTTHUMP00000164131;OTTHUMP00000220561;ankyrin repeat and death domain-containing protein 1A protein-coding ENSG00000166839 HGNC:28002 14178 VALIDATED 1603564 ANKAR ankyrin and armadillo repeat containing ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH melphalan; potassium dichromate (ortholog) 2 2 2 q32.2 184135616 184206285 + 190539018 190625919 + 189674292 189761193 + 6480464;8554872 12477932;14702039;15110750;21565611;23251661 150709 E7EWS1;Q70AK8;Q7Z5J8 ABBA01062379;ABBA01062380;AC012488;AC013468;AJ549812;AJ605761;AK027836;AK058144;AK098551;AK126073;AK307328;AMYH02005428;AMYH02005429;BC037215;BC044907;BC047413;CH471058;NM_144708;XR_241296;XR_427074 AAH44907;AAH47413;BAB71684;BAC05330;BAC86425;CAD71147;CAE53955;EAX10895;EAX10897;NP_653309;Q7Z5J8 Hs.60772;Hs.655700 1645415;1685864;1856971 RH11855;RH92442;SHGC-52566 FLJ25415 OTTHUMP00000205603;OTTHUMP00000205619;ankyrin and armadillo repeat-containing protein protein-coding ENSG00000151687 HGNC:26350 609803 VALIDATED 1312470 ANKEF1 ankyrin repeat and EF-hand domain containing 1 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; copper(2+) sulfate 20 20 20 p12.2 10085809 10107527 + 10015697 10037407 + 10035049 10056759 + 1580863;6480464;8554872 11780052;12477932;14702039;17142250;20211142;21906983;23455924 63926 Q8TCA8;Q9NU02 ABBA01053932;AK025322;AK074463;AK097689;AL109754;AMYH02036694;BC011591;BC022878;BC028189;BI562273;BI826033;CH471133;HI573924;HI573926;NM_022096;NM_198798;XM_005260792 AAH22878;ABM81831;ABM84984;BAB15111;BAG53512;CBX47451;CBX47452;EAX10355;NP_071379;NP_942093;Q9NU02;XP_005260849 Hs.70903 1339840;1754073;2114026;2115015 AB072772;D20S162;RH47929;SHGC-132109 ANKRD5;FLJ21669;dJ839B4.6 OTTHUMP00000030262;OTTHUMP00000030263;ankyrin repeat and EF-hand domain-containing protein 1;ankyrin repeat domain 5;ankyrin repeat domain-containing protein 5 APPROVED protein-coding HGNC:15803 10652 VALIDATED 1320021 ANKFY1 ankyrin repeat and FYVE domain containing 1 This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012] 17 17 17 p13.3 4078241 4178752 - 4066665 4167274 - 4163371 4263979 - 6480464;8554872 10092534;10574462;10940552;12168954;12477932;14702039;15328530;16344560;17273843;17897319;18029348;18976975;19056867;19615732;20562859;21139048;21145461;21628590;21890473;22053931;22284051;22505724;22863883;22952844;23000965;23184937;24039173;24102721;24457600;24816145;8125298 51479 B3KPZ0;I3L1Z9;I3L3P8;K7EPT2;Q9P2R3 AB033081;AB037360;AB073897;ABBA01054755;ABBA01054756;ABBA01054757;ABBA01054758;ABBA01054759;AC087292;AC087742;AK025483;AK025717;AK025960;AK057047;AK074324;AK091008;AK225170;AK292930;AK302712;AL706226;AMYH02032817;AMYH02032818;AMYH02032819;BC052308;BC060812;CH471108;CR933717;DA856905;KF510424;NM_001257999;NM_016376;NR_047571;XM_005256679;XM_006721544;XR_429815 AAH52308;AAI48356;AAI52992;BAA86569;BAA90300;BAF85619;BAG51852;BAG63933;CAI46247;EAW90448;EAW90449;EAW90450;NP_001244928;NP_057460;Q9P2R3;XP_005256736;XP_006721607 Hs.696087 1671472;1673031;1699004;1708520;1724973;1733392;5019591;5092432;5092444;5092462 D14S567;G54287;G54294;G54297;G54313;RH103073;RH118775;SHGC-36655;SHGC-85035;WI-12317 ANKHZN;BTBD23;DKFZp686M19106;KIAA1255;ZFYVE14 Rabankyrin-5;ankyrin repeat and FYVE domain-containing protein 1;ankyrin repeat hooked to zinc finger motif;ankyrin repeats hooked to a zinc finger motif APPROVED protein-coding ENSG00000185722 HGNC:20763 09717 607927 REVIEWED 1604222 ANKFN1 ankyrin-repeat and fibronectin type III domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH ethyl methanesulfonate; hydralazine; methyl methanesulfonate 17 17 17 q22 50692552 51021724 + 54230836 54560007 + 56153475 56511558 + 6480464;8554872 14702039;18391950;20379614;21668797;23936387 162282 H3BM45;I3L0N6;Q8N957 ABBA01041297;ABBA01041298;ABBA01041299;ABBA01041300;ABBA01041301;ABBA01041302;AC006600;AC006925;AC015724;AK095654;AMYH02033660;AMYH02033661;CH471109;NM_153228;XM_006721728 BAC04599;EAW94530;EAW94531;EAW94532;NP_694960;Q8N957;XP_006721791 Hs.673040 1335357;1708118;1713481;1753935;2135784 D17S669;D17S913;RH120224;SHGC-108145;SHGC-81459 FLJ38335 OTTHUMP00000207114;ankyrin repeat and fibronectin type-III domain-containing protein 1 protein-coding ENSG00000153930 HGNC:26766 08238 VALIDATED 734405 ANKH ANKH inorganic pyrophosphate transport regulator This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008] 5 5 5 p15.1 14728867 14895594 - 14704909 14871887 - 14704800 14871778 - 734569;734571;734570;634632;734964;1580863;6480464;7240710;8554872;8699517 10894769;11326272;11326338;12297987;12861042 10610710;10997877;12185249;12297989;12477932;12632434;12707589;12975309;13130483;14558096;14702039;15461680;15474385;15489334;15780964;15818664;16344560;16724232;17147692;17186460;17403715;17563703;17950726;18299954;18821330;19369455;19419319;19449425;19888898;20231843;20301634;20358596;20379614;20646567;20943778;21149338;21163940;21811784;21906983;21963094;21988832;22003394;22089454;22150416;22437419;22647861;23421944;23612078;23726953;23769559;24204828;24293574;8125298;8528213;9382103;9915952 56172 D6RGI5;Q9HCJ1 AB046801;ABBA01020638;ABBA01020639;ABBA01020640;AC010491;AC016575;AC025456;AF274753;AK001799;AK054966;AK130676;AK222631;AK315012;AMYH02010901;AMYH02010902;AMYH02010903;AY358503;BC009835;BC014526;BQ008340;BU193060;CH471102;DA126651;NG_008273;NM_054027;XM_006714483 AAF88039;AAH09835;AAH14526;AAQ88867;ABM83514;ABM86732;BAB13407;BAD96351;BAG37504;BAG50976;EAX08034;EAX08035;NP_473368;Q9HCJ1;XP_006714546 Hs.156727 1651183;1664833;1700546;1701356;1719281;1735532;1768585;2129384;2148542;2154843;2155027;2168550;2170606;5015861;5092986;7185938 A004S29;A009D34;D10S16;D5S1665E;D5S2663;G32452;IB363;RH103894;RH104308;RH123363;RH12671;RH16357;SHGC-35145;WI-15017;WI-18203 ANK;CCAL2;CMDJ;CPPDD;FLJ27166;HANK;MANK OTTHUMP00000115641;ankylosis, progressive homolog;progressive ankylosis;progressive ankylosis protein homolog APPROVED protein-coding ENSG00000154122 HGNC:15492 05509 118600;123000;605145 REVIEWED 1606539 ANKHD1 ankyrin repeat and KH domain containing 1 This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010] 5 5 5 q31.3 135858059 135996193 + 139781399 139919441 + 140401814 140539856 + 6480464;8554872 10470851;11230166;12477932;12812986;14557257;14702039;14743216;16098192;16169070;16297570;16344560;16713569;16956752;18029348;21145461;21890473;21903422;21988832;22190034;22505724;22586326;23142581;23383273;24726915;24778252;24816145 54882 D6RHC4;E9PDP5;H0Y472;H0Y4P6;H0Y785;H0Y7Y3;H3BLS9;H7C2E1;H7C2F5;Q8IWZ3 ABBA01026426;ABBA01026427;ABBA01026428;ABBA01026429;ABBA01026430;ABBA01026431;ABBA01026432;ABBA01026433;AC008438;AC011399;AF217646;AF258557;AF521882;AI675547;AI870943;AK000295;AK000904;AK022041;AK022433;AK024056;AK024189;AK074173;AK098574;AL136943;AMYH02012333;AMYH02012334;AMYH02012335;AMYH02012336;AMYH02012337;AMYH02012338;AMYH02012339;AY070436;BC004457;BC009420;BC009909;BC040231;BC117677;BC117678;BC127127;BC150486;CH471062;DA509209;NM_001197030;NM_017747;NM_017978;NM_024668 AAG23760;AAG41779;AAH04457;AAH09420;AAH09909;AAH40231;AAI17678;AAI17679;AAI27128;AAI50487;AAI72415;AAL65263;AAO14943;ADZ16059;BAA91063;BAA91417;BAB13958;BAB14849;BAB84999;CAB66877;EAW62057;EAW62058;EAW62059;NP_001183959;NP_060217;NP_060448;NP_078944;Q8IWZ3 Hs.594084 1337863;1666798;1682904;1698632;1780274;2120754;2138242;2173232;5014039;5015404;5016478;5022463;5037552;5106862;7184920 D22S1584;D3S1673;D5S2116;D8S2279;GDB:434012;L17705;RH102873;RH66185;RH67791;RH67899;RH69856;RH93300;SHGC-150281;STS-AA019993 MASK;PP2500;VBARP;hMASK HIV-1 Vpr-binding ankyrin repeat protein;OTTHUMP00000159882;OTTHUMP00000159883;OTTHUMP00000174758;OTTHUMP00000174759;OTTHUMP00000174760;VPR-binding ankyrin repeat protein;ankyrin repeat and KH domain-containing protein 1;multiple ankyrin repeats single KH domain;multiple ankyrin repeats, single KH-domain homolog APPROVED protein-coding ENSG00000131503 HGNC:24714 16489 610500 REVIEWED 1353837 ANKL1 ankyrin-like 1 65976 HGNC:14588 1602794 ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 readthrough The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009] 5 5 5 q31.3 135858059 136005914 + 139781399 139929163 + 140401814 140549578 + 6480464;8554872 10470851;12477932;14557257;14743216;16297570;16344560;18029348;20936779;20967262;21890473;22505724 404734 H7C0V5;Q8IWZ3 AB029008;ABBA01026426;ABBA01026427;ABBA01026428;ABBA01026429;ABBA01026430;ABBA01026431;ABBA01026432;ABBA01026433;AC008438;AC011399;AF521883;AK125734;AMYH02012333;AMYH02012334;AMYH02012335;AMYH02012336;AMYH02012337;AMYH02012338;AMYH02012339;BC144623;CH471062;DA859680;NM_020690 AAI72416;AAO14944;BAA83037;EAW62055;NP_065741 Hs.594084 1337863;1651430;1666798;1682904;1698632;1735456;1773378;1773380;1780274;1792176;2107035;2120754;2138242;2161727;2173232;5106862;7184920 A001T37;D5S1582E;D5S2116;EIF4EBP3_7925;G19635;PMC138568P1;RH102873;RH66185;RH67791;RH67899;RH69856;RH78625;RH93300;SHGC-150281;STS-AA019993;WI-14182 MASK-BP3;MASK-BP3arf MASK-4E-BP3 alternate reading frame;OTTHUMP00000159882;OTTHUMP00000174758;OTTHUMP00000232174 APPROVED protein-coding ENSG00000131503;ENSG00000254996 HGNC:33530 17468 REVIEWED 1316285 ANKIB1 ankyrin repeat and IBR domain containing 1 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; all-trans-retinoic acid 7 7 7 q21.2 86580099 86735226 + 91875530 92030698 + 92246216 92401384 + 1580863;6480464;8554872 10718198;12477932;14702039;15489334;16196087;17081983;19240029;20195357;20379614;21139048;21906983;21988832;23443559 54467 C9JZ63;H7C0S0;H7C2L9;H7C2V2;Q9P2G1 AB037807;ABBA01045804;ABBA01045805;AC000118;AC000120;AC004539;AC007566;AK001179;AK025475;AK057685;AL137349;AMYH02016261;AMYH02016262;AMYH02016263;AMYH02016264;BC031483;BC041643;BC063861;BC073893;BC094865;CH236949;CH471091;KF458511;KF458513;KF458515;NM_019004;XM_005250457;XM_005250458 AAH31483;AAH63861;AAH73893;AAH94865;BAA91537;BAA92624;CAB70704;EAW76852;NP_061877;Q9P2G1;XP_005250514;XP_005250515 Hs.83293 1649333;1686234;1698980;1735712;1775519;2122061;2125158;2133714;2142494;2156927;2179153 D7S2094E;D7S2167E;D7S2796;D7S2921;D7S548E;G17116;G31812;RH103059;RH80670;SHGC-56136;SHGC-56138 DKFZp434A0225;FLJ33123;KIAA1386 OTTHUMP00000208793;ankyrin repeat and IBR domain-containing protein 1 protein-coding ENSG00000001629 HGNC:22215 VALIDATED 1313623 ANKK1 ankyrin repeat and kinase domain containing 1 The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009] 11 11 11 q23.2 110411445 110424071 + 113258513 113271140 + 113387791 113400418 + 1580863;6480464;8554872 12151753;12471243;12555236;12605103;12762588;14741327;15146457;15542731;15545020;15812318;15939106;16026865;16032443;16869231;17069991;17085484;17120049;17189962;17446975;17453061;17669630;17671965;17761687;17767146;17850642;18037170;18058343;18058350;18063936;18075468;18259088;18354387;18669994;18690118;18698520;18828801;18926547;18927395;19025655;19046929;19283474;19291230;19321766;19339270;19373123;19512960;19692168;19717274;19897017;19900188;19914044;20133381;20138949;20180986;20199723;20410875;20577142;20734064;20845092;21041608;21070510;21168125;21261454;21352928;21510979;21540761;21936764;22232965;22382052;22698582;22728571;22875483;22893251;22967772;22970887;23118020;23153044;23203481;23302056;23303482;23383291;23443985;23558112;23590110;23691092;23840506;23947671;24247049 255239 H0YH32;Q8NFD2 ABBA01039789;AF487542;AF525298;AJ541797;AMYH02025593;AP002840;CH471065;EF444946;NG_012976;NM_178510;XM_006718809;XM_006718810 AAI56147;AAI72460;AAM91924;AAQ09005;ACA05931;CAD62569;EAW67216;EAW67217;NP_848605;Q8NFD2;XP_006718872;XP_006718873 Hs.448473 PKK2;sgK288 OTTHUMP00000236610;X-kinase;ankyrin repeat and protein kinase domain-containing protein 1;protein kinase PKK2;sugen kinase 288 APPROVED protein-coding ENSG00000170209 HGNC:21027 10580 608774 REVIEWED 1314392 ANKMY2 ankyrin repeat and MYND domain containing 2 ENCODES a protein that exhibits metal ion binding (inferred); FOUND IN cilium (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 5-aza-2'-deoxycytidine 7 7 7 p21 16619158 16665198 - 16639401 16685442 - 16599776 16645817 - 737633;1580863;6480464 12477932 12690205;14702039;15489334;16344560;21044950;21906983;22863883;24816145;25036637;8889548 57037 F8WB95;G3V0G5;Q8IV38 ABBA01056630;ABBA01056631;ABBA01056632;AC005014;AC073201;AK001389;AK001740;AK023704;AL050390;AMYH02015304;AMYH02015305;BC015453;BC035353;BU674794;CH236948;CH471073;DA210027;NM_020319 AAH15453;AAH35353;ACE86972;ACE87662;BAG50900;BAG51218;CAH56419;EAL24286;EAW93671;EAW93672;EAW93673;EAW93674;NP_064715;Q8IV38 Hs.157378 1700910;2123953;2141831 D7S2088E;RH104082;SHGC-17250 DKFZp564O043;ZMYND20 OTTHUMP00000116019;OTTHUMP00000201684;ankyrin repeat and MYND domain-containing protein 2 protein-coding ENSG00000106524 HGNC:25370 12454 VALIDATED 1345862 ANKMY1 ankyrin repeat and MYND domain containing 1 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenite(3-); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); pirinixic acid (ortholog) 2 2 2 q37.3 235090758 235169607 - 241418839 241500472 - 240479422 240561068 - 1580863;6480464;8554872 12477932;14702039;15489334;20379614;22139419;8125298 51281 B5MBY4;C9J176;C9J5V7;C9JGS7;C9JZ56;H7BYI0;H7BYZ8;H7C254;J3KPY5;J3KQ07;J3KQ21;Q6GPI0;Q9P2S6 AB034636;ABBA01048871;ABBA01048872;ABBA01048873;AC124862;AK000506;AK056511;AK124879;AK125881;AK225534;AK296714;AK314534;AL136618;AL833866;AMYH02006098;BC033495;BC036111;BC041887;BC073146;CH471063;CR936600;CR936759;NM_001282771;NM_001282780;NM_001282781;NM_016552;NM_017844;XM_005247020;XM_006712567;XM_006712568;XM_006712569;XM_006712570;XM_006712571;XM_006712572 AAH33495;AAH73146;AAX88942;ACE86856;ACE86879;ACE87543;BAA91213;BAA92844;BAC85977;BAG37125;BAH12418;CAB66553;CAD38724;CAI56748;EAW71187;EAW71188;EAW71189;EAW71190;EAW71191;NP_001269700;NP_001269709;NP_001269710;NP_057636;NP_060314;Q9P2S6;XP_005247077;XP_006712630;XP_006712631;XP_006712632;XP_006712633;XP_006712634;XP_006712635 Hs.656615 1781322;1781324;2185056;5015861;5037552;5109281;7185938 D10S16;D1S1425;D2S1378;D8S2279;G31178;G31179 DKFZp686D20155;DKFZp686L21237;FLJ20499;ZMYND13 OTTHUMP00000164505;OTTHUMP00000164506;OTTHUMP00000201484;OTTHUMP00000201487;OTTHUMP00000201488;OTTHUMP00000201489;ankyrin repeat and MYND domain-containing protein 1;testis specific ankyrin-like protein 1;testis-specific ankyrin-like protein 1;zinc finger MYND domain-containing protein 13 protein-coding ENSG00000144504 HGNC:20987 10646 VALIDATED 1347651 ANKRA2 ankyrin repeat, family A (RFXANK-like), 2 ENCODES a protein that exhibits low-density lipoprotein particle binding; FOUND IN cytosol; membrane; INTERACTS WITH (-)-demecolcine; 2-methylcholine; aflatoxin B1 5 5 5 q12-q13 68743316 68756798 - 72848025 72861521 - 73552200 73565696 - 1580863;6480464 10965114;11095640;12477932;14702039;15280358;15489334;15964851;17949687;20873783;21832049;22649097 57763 D6RBK8;Q9H9E1 ABBA01061920;AC010279;AF251051;AF314032;AK022876;AL558295;AMYH02011562;BC012917;CH471084;DB543368;NM_023039;XM_005248560;XR_241786;XR_241787;XR_427716 AAH12917;AAK01621;AAK34941;ABM82477;ABM85664;BAB14288;EAW95729;EAW95730;NP_075526;Q9H9E1;XP_005248617 Hs.239154 1655844;1797070;2122679;2219774 ANKRA2;ANKRA2__4305;RH46202;RH78606 ANKRA;OTTHUMP00000128195;RFXANK-like protein 2;ankyrin repeat family A protein 2 protein-coding ENSG00000164331 HGNC:13208 12044 605787 VALIDATED 1605878 ANKLE1 ankyrin repeat and LEM domain containing 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenite(3-); diazinon; trichostatin A 19 19 19 p13.11 17294193 17300193 + 17392454 17398455 + 17281645 17287646 + 6480464;8554872 12477932;14702039;15565891;16344560;17549794;20237496;20852631;20852633;21890473;21906983;22399800;22976474;24325915 126549 B4DSY8;B4E124;J3KPY6;M0QX15;M0R002;Q8NAG6 ABBA01051191;AC010463;AK092706;AK096688;AK299977;AK303628;AMYH02035701;BC119015;BC125274;CH471106;DA900798;DC410789;EU184013;NM_001278443;NM_001278444;NM_001278445;NM_152363;NR_103530 AAI25275;ABW73565;BAC03953;BAC04840;BAG61800;BAG64636;EAW84586;EAW84587;EAW84588;NP_001265372;NP_001265373;NP_001265374;NP_689576;Q8NAG6 Hs.721610 1339866;5023733;5024761;5127905 AU048745;D19S410;RH36905;SHGC-152141 ANKRD41;FLJ39369;LEM3;LEMD6 LEM domain containing 6;LEM-domain containing 3;LEM-domain containing protein 3;OTTHUMP00000198604;OTTHUMP00000198605;OTTHUMP00000201269;ankyrin repeat and LEM domain-containing protein 1;ankyrin repeat domain 41;ankyrin repeat domain-containing protein 41 protein-coding ENSG00000160117 HGNC:26812 08801 VALIDATED 1604388 ANKLE2 ankyrin repeat and LEM domain containing 2 This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014] 12 12 12 q24.33 133002795 133037583 - 133302254 133338451 - 132725668 132761865 - 6480464;8554872 12477932;14702039;15231748;15489334;16344560;16964243;17081983;18029348;18624398;19156129;19946888;21906983;22542470;22770216;23443559;24816145;9734811 23141 F5H1D4;F5H6J0;Q86XL3 AB014592;ABBA01012370;ABBA01012371;ABBA01012372;ABBA01042548;ABBA01042549;ABBA01042550;ABBA01042551;AC135586;AC136467;AK024061;AK025933;AK093451;AK293028;AMYH02027591;AMYH02027592;BC001530;BC025347;BC043157;BC062373;BC082962;DA757330;DB451935;DB453975;NG_034022;NM_015114;R59085;XM_005266159;XM_005266160;XM_005266161;XM_006719735 AAH01530;AAH25347;AAH43157;AAH62373;AAH82962;BAA31667;BAF85717;BAG51259;BAG52720;NP_055929;Q86XL3;XP_005266216;XP_005266217;XP_005266218;XP_006719798 Hs.654628 1340726;1722945;2119242;2173388;2173390;2178195 A005X42;D12S1638;G20583;G60570;RH44489;RH78044 FLJ22280;FLJ36132;KIAA0692;LEMD7;Lem4 LEM domain containing 7;LEM domain-containing protein 4;OTTHUMP00000237681;OTTHUMP00000237682;ankyrin repeat and LEM domain-containing protein 2 protein-coding ENSG00000176915 HGNC:29101 REVIEWED 1348352 ANKRD1 ankyrin repeat domain 1 (cardiac muscle) The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008] 10 10 10 q23.31 86418314 86427472 - 92671857 92681032 - 90912100 90921275 - 1578370;1580863;1578366;5133280;5133277;5133278;5133279;5133276;6480464 10904011;14516314;15632022;17610582;19299913;19525294;19608031 11139470;11309420;12054667;12477932;12524226;12679596;14583192;15164054;15489334;15698842;15805281;16344560;16450059;17239933;18157088;18273862;18656235;18976975;18980987;19359327;19589340;19608030;20164196;20301486;20599664;20602615;20628624;20860623;21139048;22085644;22185618;22892129;23572067;25015289;7730328 27063 Q05DQ9;Q15327 ABBA01021930;ABBA01021931;AF131884;AK290960;AL590622;AMYH02023518;AU139209;AY903446;BC005191;BC018667;CH471066;NG_023227;NM_014391;X83703 AAH05191;AAH18667;AAX23581;ABM83778;ABM87098;BAF83649;CAA58676;EAW50116;NP_055206;Q15327 Hs.448589 1690438;2109039;2123017;2159094;5491938;5492365 ANKRD1-1;ANKRD1_9516;Ankrd1;RH98636;SHGC-35401;STS-X83703 ALRP;C-193;CARP;CVARP;MCARP;bA320F15.2 OTTHUMP00000020084;ankyrin repeat domain-containing protein 1;cardiac ankyrin repeat protein;cytokine-inducible gene C-193 protein;cytokine-inducible nuclear protein;liver ankyrin repeat domain 1 APPROVED protein-coding ENSG00000148677 HGNC:15819 10647 609599 REVIEWED 5130813 ANKRD10-IT1 ANKRD10 intronic transcript 1 (non-protein coding) 13 13 92397340 92399786 - 111551120 111554449 - 12477932;14702039 100505494 AK124233;BC034813;XR_109155;XR_111397;XR_172017 Hs.655994 1667786;1667788;5015619 A005X01;D11S3114;G20562 FLJ42239 ncrna HGNC:39891 1606740 ANKRD13B ankyrin repeat domain 13B FOUND IN endosome (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; atrazine; valproic acid 17 17 17 q11.2 24781393 24802648 + 27920527 27941779 + 29589769 29614761 + 6480464 12477932;14702039;15489334;16169070;16344560;20881960;21139048;21890473;21963094;22298428 124930 B3KS27;K7EKP0;K7ENT0;Q86YJ7 ABBA01015012;ABBA01015013;AC104564;AK000425;AK092673;AK097716;AK098421;AMYH02033253;AMYH02033254;BC032554;BC062597;BG029526;CH471159;DA445860;NM_152345;XM_005257920;XM_006721693 AAH32554;AAH62597;BAC05148;BAC05304;BAG52589;EAW51199;EAW51200;EAW51201;EAW51202;EAW51203;NP_689558;Q86YJ7;XP_005257977;XP_006721756 Hs.662164 1736694;2174115 D17S1512E;RH46400 FLJ20418;FLJ25555 OTTHUMP00000163607;OTTHUMP00000163608;ankyrin repeat domain-containing protein 13B protein-coding ENSG00000198720 HGNC:26363 08694 615124 VALIDATED 1321439 ANKRD10 ankyrin repeat domain 10 INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine 13 13 13 q34 92377096 92413637 - 111530887 111567454 - 110878540 110915107 - 6480464 12477932;12938929;14702039;16344560;19322201;8889548 55608 Q8IUW1;Q9NXR5;S4R3R2 ABBA01026990;AK000100;AK000111;AK026017;AK094222;AK095763;AK096083;AK123341;AK125100;AL157875;AL442128;AMYH02028714;BC001727;BC039715;BX354283;BX641022;BX648721;CB242465;CH471085;DA961131;NM_001286721;NM_017664;NR_104586;NR_104587 AAH01727;AAH39715;BAA90945;BAA90951;BAB15323;BAG53125;BAG53208;BAG53891;BAG54142;CAH56123;EAX09134;EAX09135;EAX09136;NP_001273650;NP_060134;Q9NXR5 Hs.525163 1651795;1667786;1738435;1753941;1852825;1857264;2110957;2119676;2131607;2178229;2183709;2187036 D13S229E;D13S851E;G20562;RH45174;RH71139;SGC30179;SHGC-34204;SHGC-89345;STS-AA007174;STS-N30312;UniSTS:153217;WI-22180 DKFZp686B07190;FLJ20093 OTTHUMP00000018708;ankyrin repeat domain-containing protein 10 protein-coding ENSG00000088448 HGNC:20265 12455 VALIDATED 1318431 ANKRD13A ankyrin repeat domain 13A FOUND IN plasma membrane; INTERACTS WITH atrazine; methyl methanesulfonate; paracetamol 12 12 12 q24.11 110061469 110101471 + 110436974 110477237 + 109999169 110039432 + 6480464 10508479;12477932;14702039;15231748;15489334;16196087;19322201;20639865;21139048;21890473;21903422;21906983;21963094;21987572;22053931;22190034;22298428;22505724;23000965;23319000;23620728;23940030;23956138;24816145 88455 B3KMT9;B3KT78;F8W150;H0YIN8;Q3ZTS7;Q8IZ07;Q9Y5A3;S4R3D2;S4R3U2 ABBA01005084;ABBA01005085;AC007546;AC084876;AF064604;AF155103;AK022658;AK025261;AK095130;AK130522;AK293232;AK302535;AK308923;AMYH02027176;AY364251;BC032833;BC057817;CH471054;NM_033121;XM_005253980;XM_005253981;XM_005253982;XM_005253984 AAC17109;AAD42869;AAH32833;AAQ76810;BAG51101;BAG52990;BAG56771;BAG63807;EAW97891;EAW97892;EAW97893;NP_149112;Q8IZ07;XP_005254037;XP_005254038;XP_005254039;XP_005254041 Hs.528703 1645417;1645775;2146324;2169768;2181302;5014019;5024761 D5S2354;RH36905;RH44722;SGC30598;SGC33766;SHGC-53833;WI-20847 ANKRD13;NY-REN-25 NY-REN-25 antigen;OTTHUMP00000240752;ankyrin repeat domain 13;ankyrin repeat domain-containing protein 13A protein-coding ENSG00000076513 HGNC:21268 12458 615123 VALIDATED 1315433 ANKRD11 ankyrin repeat domain 11 This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012] 16 16 16 q24.3 74399601 74619674 - 89334029 89556969 - 89267619 89490561 - 6480464;8699517;7240710;8554872 11483580;12477932;14702039;15184363;15489334;16344560;17081983;17521611;18840648;19920853;21139048;21654729;21782149;22538187;23184435;23494856;23502783;23752268;24722188 29123 H0Y2U4;H0Y3E3;H3BNU4;H3BVB8;Q6UB99 AB209186;ABBA01014150;ABBA01014151;ABBA01014152;ABBA01014153;ABBA01014154;ABBA01014155;ABBA01014156;AC092120;AC092123;AC137932;AF121775;AF130076;AK025964;AK057803;AK093762;AK125549;AK290994;AMYH02032661;AMYH02032662;AMYH02032663;AMYH02032664;AMYH02032665;AMYH02032666;AY131227;AY373756;AY533563;AY726574;BC007975;BC017437;BC025283;BC031340;BC041059;BC041585;BC052290;BC058001;BC069013;BQ957747;CH471184;DA172996;KF456220;KJ534770;NG_032003;NM_001256182;NM_001256183;NM_013275;NR_045839;XM_006721181;XM_006721182;XM_006721183;XM_006721184 AAF24125;AAH41585;AAH58001;AAH69013;AAN07913;AAR25661;AAS45544;AHW56410;BAD92423;BAF83683;EAW66731;EAW66732;EAW66733;EAW66734;NP_001243111;NP_001243112;NP_037407;Q6UB99;XP_006721244;XP_006721245;XP_006721246;XP_006721247 Hs.335003;Hs.740440 1336575;1339964;1660633;1668203;1673048;1679325;1699382;1720567;1754325;1761807;1762643;1764745;1766629;2109037;2157314;2172433;2185581 ANKRD11_9583;D16S3026;D16S3121;G59238;HSC05E102;RH103278;RH65545;RH69658;RH80169;SHGC-132354;SHGC-145765;SHGC-146447;SHGC-148326;SHGC-149926;SHGC-60547;SHGC-60644;SHGC-64125 ANCO-1;ANCO1;KBGS;LZ16;T13 ankyrin repeat domain-containing protein 11;ankyrin repeat-containing cofactor 1;ankyrin repeat-containing protein 11;nasopharyngeal carcinoma susceptibility protein APPROVED protein-coding ENSG00000167522 HGNC:21316 12456 148050;611192 REVIEWED 1320836 ANKRD12 ankyrin repeat domain 12 This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] 18 18 18 p11.22 9066843 9169731 + 9136751 9285983 + 9136753 9285985 + 6480464 10048485;12477932;14702039;15184363;15342556;16582619;18029348;18377363;20379614;21145461;21963094;22094256;23752268 23253 B5MEA4;F5GYX2;J3KS53;J3KSU9;J3QRX3;Q6UB98 AB020681;AB073645;AB075493;ABBA01049947;ABBA01049948;ABBA01049949;AF147338;AF317425;AK000060;AK021430;AK024808;AK092124;AL834204;AMYH02034286;AMYH02034287;AP001033;AP005263;AY373757;AY533564;BC057225;BC070234;BM992146;BP230422;BP255733;CH471113;NM_001083625;NM_001204056;NM_015208;X80821;XM_005258092;XM_005258093;XM_005258094;XM_005258095;XM_005258096;XM_006722317 AAG38609;AAH57225;AAH70234;AAI56481;AAI72538;AAR25662;AAS45545;BAA74897;BAA90917;BAB15014;BAE45749;CAA56787;CAH56382;EAX01609;EAX01610;NP_001077094;NP_001190985;NP_056023;Q6UB98;XP_005258149;XP_005258150;XP_005258151;XP_005258152;XP_005258153;XP_006722380 Hs.464585 1675335;1683325;1685169;1691202;1694846;1696962;1698384;1700484;1707746;1708384;1711984;1739229;1756995;1779088;2124969;2179822;2186547;5021872;5022200;5022578 D18S1016;D18S1236;D1S1423;G44291;L18426;RH101953;RH102733;RH103863;RH118445;RH16223;RH75135;RH79631;RH94073;RH99046;SHGC-144352;SHGC-56504;SHGC-58356;SHGC-82089;SHGC-82874;sY3084 ANCO-2;ANCO1;FLJ20053;GAC-1;KIAA0874;Nbla00144 OTTHUMP00000162350;ankyrin repeat domain-containing protein 12;ankyrin repeat-containing cofactor 2;putative protein product of Nbla00144 APPROVED protein-coding ENSG00000101745 HGNC:29135 12457 610616 REVIEWED 1604586 ANKRD13C ankyrin repeat domain 13C ENCODES a protein that exhibits receptor binding; INVOLVED IN protein retention in ER lumen; regulation of anoikis; regulation of receptor biosynthetic process; FOUND IN endoplasmic reticulum; perinuclear region of cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; benzo[a]pyrene diol epoxide I 1 1 1 p32.3-p31.3 69014622 69110347 - 70724685 70820471 - 70259002 70354788 - 6480464 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16381901;16710414;20959461;21906983;23762421;8889548 81573 Q8N6S4 ABBA01074483;ABBA01074484;ABBA01074485;ABBA01074486;ABBA01074487;AK074187;AL136717;AL158839;AL353771;AL354721;AMYH02001238;AMYH02001239;AMYH02001240;AMYH02001241;BC016937;BC028840;BU622247;CD000035;CH471059;CK299538;NM_030816;XM_005271234;XM_005271235;XM_006710929;XM_006710930;XR_426628 AAH16937;AAH28840;BAG51959;CAB66651;CAL37790;CAL38346;EAX06456;EAX06457;NP_110443;Q8N6S4;XP_005271291;XP_005271292;XP_006710992;XP_006710993 Hs.744989 1654662;1676956;1682457;1692284;1698546;1715355;1770609;2151996;2181652;2185674 AL009311;AL033802;RH102825;RH120509;RH48351;RH92420;RH92699;SHGC-52664;WI-14729;WI-21498 DKFZp566D1346;FLJ14998;RP4-677H15.5;dJ677H15.3 OTTHUMP00000010939;OTTHUMP00000010940;ankyrin repeat domain-containing protein 13C protein-coding ENSG00000118454 HGNC:25374 13176 615125 VALIDATED 1349121 ANKRD14 ankyrin repeat domain 14 445575 HGNC:23431 1605234 ANKRD13D ankyrin repeat domain 13 family, member D ASSOCIATED WITH Melanoma (inferred); FOUND IN endosome (inferred); plasma membrane (inferred); INTERACTS WITH 2-methylcholine; pirinixic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q13.2 64368966 64402594 + 67056762 67069955 + 67289291 67302484 + 6480464;8554872 12477932;14702039;15489334;16344560;16713569;17081983;19913121;19953087;20628086;21139048;21832049;21890473;21963094;21987572;22298428;24250222 338692 Q6ZTN6 ABBA01024041;AK027313;AK057566;AK057681;AK091614;AK096277;AK124721;AK126438;AMYH02024991;AP001885;BC044239;BC110419;BC121024;BC121025;CH471076;DA870287;DB460018;NM_207354;NR_030767;XM_006718531;XR_428913 AAH44239;AAI10420;AAI21025;AAI21026;BAC85932;BAC86550;BAG51301;BAG51952;EAW74583;EAW74584;EAW74585;EAW74586;NP_997237;Q6ZTN6;XP_006718594 Hs.438673 2113958;2155198;2156868;2177282;2191167;5014051;5015861;5016478;5020946;5022576;5022578;5022651;5024039;5024272;5037552;5492139;7185938 ADRBK1;D10S16;D11S2921;D16S325;D1S1361;D1S1423;D2S1254;D8S2278;D8S2279;GDB:434012;L17971;MARC_15697-15698:1013523581:1;RH45377;STS-W92216;WI-15244;adrbk1sts1 MGC50828 OTTHUMP00000222934;OTTHUMP00000222935;OTTHUMP00000236816;ankyrin repeat domain-containing protein 13D protein-coding ENSG00000172932 HGNC:27880 17349 615126 VALIDATED 5684153 ANKRD18CP ankyrin repeat domain 18C, pseudogene 9 9 9 q22.33 70433103 70514310 - 99942170 99983523 - 97188583 97221235 - 12477932 100287922 ABBA01042937;AK098764;AK309476;AL590705;AMYH02021304;CD644713;CD709196;XR_426432;XR_428576;XR_432474 Hs.638367;Hs.648180 1679874;1682057;1685496;1709398;5037552 D8S2279;RH45881;RH65315;RH69285;SHGC-81723 FLJ25898;FLJ99517 pseudo HGNC:43601 MODEL 6480412 ANKRD18EP ankyrin repeat domain 18E, pseudogene 6 6 6 p21.2 40630588 40634828 + 39078100 39080695 + 39110324 39112919 + 100131031 ABBA01038308;AL035690;AMYH02013586;CH471081;NG_028818 EAX03978 uncharacterized protein LOC100131031 pseudo HGNC:43609 INFERRED 1607057 ANKRD17 ankyrin repeat domain 17 This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 q13.3 71296572 71480590 - 73940502 74124858 - 73074785 73259141 - 6480464;8554872 11165478;11740861;12477932;12747765;14557257;14702039;15302935;17609381;18029348;19460752;19615732;19815555;19946888;20200953;20379614;20682791;20936779;21139048;21890473;21988832;22190034;22328336;22558309;22586326;22623428;23443559;23535732;23711367;24816145;8889548;9734811 26057 H0YLQ3;H0YM23;O75179 AB014597;ABBA01022984;ABBA01022985;ABBA01022986;ABBA01022987;AC053527;AC095053;AC105757;AF308285;AI680274;AK025859;AK055209;AK096518;AK299046;AK300302;AK307581;AL831903;AL833287;AMYH02009457;AMYH02009458;AMYH02009459;AMYH02009460;AMYH02009461;BC004173;BC004891;BC007747;BC009043;BC019963;BC029935;BC043394;BU608983;BU687888;BX648035;CA310544;CD690889;CH471057;DC335632;NM_001286771;NM_032217;NM_198889;XM_005265667;XM_005265671;XM_005265672;XM_005265673 AAG48253;AAH04173;AAH07747;AAH19963;AAH43394;AAI46383;BAA31672;BAB15260;BAG53312;BAG61120;BAG62055;CAD38571;EAX05654;EAX05655;EAX05656;EAX05657;EAX05658;NP_001273700;NP_115593;NP_942592;O75179;XP_005265724;XP_005265728;XP_005265729;XP_005265730 Hs.601206;Hs.743705 1660062;1672565;1774202;1788736;1847496;1853526;2117397;2125412;2130392;2134043;2143450;2155019;2174201;2187098;5096751 D4S2838;D4S844;D4S872;G34305;G34416;G34499;RH127459;RH35831;SGC33720;SGC38257;SHGC-24711;SHGC-67820;SHGC4-1565;WI-11060;WI-16604 FLJ22206;GTAR;KIAA0697;NY-BR-16 OTTHUMP00000219059;OTTHUMP00000219060;OTTHUMP00000219061;ankyrin repeat domain-containing protein 17;gene trap ankyrin repeat protein;serologically defined breast cancer antigen NY-BR-16 APPROVED protein-coding ENSG00000132466 HGNC:23575 10648 615929 REVIEWED 1351862 ANKRD18B ankyrin repeat domain 18B INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 9 9 9 p13.3 33454000 33502434 + 33524347 33602658 + 33524349 33575725 + 6480464 12477932;21906983 441459 A2A2Z9;A2A300;R4GNB3;S4R3H1 ABBA01065047;ABBA01065048;AL139008;AMYH02019423;BC009440;BF103989;DB512460;DW421358;DW441346;NM_001244752;XM_006716769;XM_006716770;XM_006716771;XM_006716772 A2A2Z9;NP_001231681;XP_006716832;XP_006716833;XP_006716834;XP_006716835 Hs.493710 bA255A11.3;bA255A11.5 OTTHUMP00000195020;ankyrin repeat domain-containing protein 18B protein-coding ENSG00000230453 HGNC:23644 18466 INFERRED 1352126 ANKRD18A ankyrin repeat domain 18A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; coumestrol; resveratrol 9 9 9 p13.1 38507268 38556673 - 38543190 38620626 - 38568767 38620539 - 6480464;8554872 12477932;14702039;16344560;20618440;21906983;23131552 253650 H3BPE5;H3BTJ1;Q6QA70;Q8IVF6;Q8NA88;R4GN29 AB095935;ABBA01050374;ABBA01050375;AK093059;AL390726;AL591543;AL834388;AMYH02019511;AY550933;BC056266;BC131497;BC152434;BQ787286;BX280525;DB066861;NM_147195;XM_006716749 AAH56266;AAI52435;AAS57859;BAC04038;BAC23111;NP_671728;Q8IVF6;XP_006716812 Hs.644630 2162134 RH12064 FLJ35740;FLJ40632;KIAA2015;MGC176674 OTTHUMP00000021402;ankyrin repeat domain-containing protein 18A protein-coding ENSG00000180071 HGNC:23643 13419 VALIDATED 1322851 ANKRD16 ankyrin repeat domain 16 INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; genistein 10 10 10 p15.1 5834082 5862252 - 5903593 5931860 - 5861726 5889897 - 6480464 12477932;14702039;15164054;15489334;17207965;20453838;23251661 54522 Q6P6B7 AA431197;ABBA01034770;ABBA01034771;AI738771;AK093489;AK094497;AK129672;AL137186;AL137614;AL596094;AMYH02022050;AMYH02022051;AW470888;AW630443;BC017324;BC062346;BC067892;CH471072;NM_001009941;NM_001009943;NM_019046 AAH62346;ADQ32142;CAB70843;EAW86429;NP_001009941;NP_001009943;NP_061919;Q6P6B7 Hs.289828 1675911;1722107;1780080;1850956;2218992;5015619;5022578;5022651;5037552 ANKRD16__4307;D10S1596;D11S2921;D11S3114;D1S1423;D8S2279;G60095;RH92268;SHGC-154401 OTTHUMP00000019019;OTTHUMP00000019020;OTTHUMP00000216165;ankyrin repeat domain-containing protein 16 protein-coding ENSG00000134461 HGNC:23471 12459 VALIDATED 1605802 ANKRD18DP ankyrin repeat domain 18D, pseudogene 3 3 3 q29 196399188 196422329 - 197784402 197807542 - 198057531 198080671 - 12477932;21906983 348840 ABBA01007556;AC073135;AK125940;AMYH02008528;AMYH02008529;BC042518;BC053879;CH471252;NR_003291 EAW92257;EAW92258 Hs.512227 1722837 G60360 APPROVED pseudo ENSG00000226435 HGNC:28016 14181 PROVISIONAL 1343235 ANKRD20A1 ankyrin repeat domain 20 family, member A1 FOUND IN plasma membrane; INTERACTS WITH 17beta-estradiol; progesterone; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q13 2600 2914 + 67926761 67969840 + 67859315 67902394 + 6480464 11076863;11230166;11256614;15164053;15489336;16381901 84210 Q5TYW2 ABBA01033776;ABBA01033777;ABBA01033778;ABBA01033779;AL136793;AMYH02020826;AMYH02020827;AMYH02020828;AMYH02020829;BX649567;NM_032250;XM_005272532 AAI46682;CAB66727;CAL38009;NP_115626;Q5TYW2;XP_005272589 Hs.632671 ANKRD20A;DKFZp434A171 OTTHUMP00000032570;ankyrin repeat domain 20A;ankyrin repeat domain-containing protein 20A1 protein-coding ENSG00000260691 HGNC:23665 10649 PROVISIONAL 6480383 ANKRD20A14P ankyrin repeat domain 20 family, member A14, pseudogene 1 1 142823386 142827232 + 42364 46210 + 100533719 BX572084;NG_028834 pseudo HGNC:43605 INFERRED 1604746 ANKRD19P ankyrin repeat domain 19, pseudogene FOUND IN extracellular vesicular exosome; INTERACTS WITH arsenite(3-); benzene-1,2,4-triol; ammonium chloride (ortholog) 9 9 9 q22.31 66013959 66042818 + 95571893 95600739 + 92809611 92838457 + 6480464 12477932;14702039;15164053;15489334 138649 Q9H560 ABBA01018596;AK093497;AK292218;AL136981;AMYH02021226;AMYH02021227;BC028712;BC038951;BC117367;BC171729;CH471089;DB449690;NR_026868 AAH38951;AAI17368;AAI71729;BAF84907;EAW62830;EAW62831;EAW62832;EAW62833 Hs.643597 1771686;2181135 RH48561;RH78225 ANKRD19;FLJ36178;bA526D8.2 APPROVED pseudo ENSG00000187984 HGNC:22567 16490 VALIDATED 6480411 ANKRD20A13P ankyrin repeat domain 20 family, member A13, pseudogene 1 1 q21.1 115379033 115385224 + 143209382 143213259 - 100132733 AMYH02001842;BX571672;NG_029281 1758537 SHGC-148652 pseudo HGNC:43604 INFERRED 5129379 ANKRD20A10P ankyrin repeat domain 20 family, member A10, pseudogene 13 13 13 6389169 6389736 - 25325904 25326471 - 24751766 24752333 - 100421422 ABBA01007894;AL391560;AMYH02027709;NG_024841 1730215;7184676 D13S179E ANKRD20A4P1 APPROVED pseudo HGNC:39707 INFERRED 6480384 ANKRD20A15P ankyrin repeat domain 20 family, member A15, pseudogene 1 143375107 143378961 + 100533720 BX004987;NG_028835 pseudo HGNC:43606 INFERRED 1344304 ANKRD20A11P ankyrin repeat domain 20 family, member A11, pseudogene INTERACTS WITH atrazine; fonofos; parathion 21 21 21 q11.2 323 1103 - 15316090 15352765 - 13943769 13980444 - 6480464 12036297;12477932 391267 ABBA01057071;AF426257;AP001466;AP001634;BC036580;BC043199;BC063278;NR_027270 AAM53513 Hs.364456 C21orf81;MGC44241 APPROVED pseudo ENSG00000215559 HGNC:42024 VALIDATED 6480986 ANKRD20A12P ankyrin repeat domain 20 family, member A12, pseudogene 1 4 142697421 142713605 - 161987 178171 - 12477932;14702039;16710414;21906983 100874392 Q8NF67 AK090412;AL583842;AMYH02001840;BC022380;KF455032;NR_046228 BAC03393;Q8NF67 Hs.648245 FLJ00310 pseudo HGNC:43603 VALIDATED 6480404 ANKRD20A16P ankyrin repeat domain 20 family, member A16, pseudogene 21 21 9765961 9769809 + 8877128 8880976 + 100421427 AMYH02037502;CR381670;NG_025049 pseudo HGNC:43607 INFERRED 1312939 ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle) This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] 10 10 10 q23 93069552 93080944 + 99332256 99343641 + 97572499 97583884 + 1580863;6480464 10873377;11444853;11453652;11972353;12004005;1204005;12477932;12679596;14583192;14702039;15136035;15164054;15489334;15677738;16021567;16344560;16385451;17206105;18029348;20211142;21737686;22016770;22185618;23811403;24434510 26287 Q5T457;Q9GZV1 AB058599;ABBA01021800;AJ249975;AJ304804;AJ304805;AJ346356;AJ583444;AK056990;AK314763;AL355315;AL359388;AMYH02023611;BC020817;BC107759;CH471066;DA893829;NG_034079;NM_001129981;NM_001291218;NM_001291219;NM_020349 AAH20817;AAI07760;BAB60958;BAG37301;CAB99416;CAC19411;CAC19412;CAE47432;EAW49916;EAW49917;NP_001123453;NP_001278147;NP_001278148;NP_065082;Q9GZV1 Hs.73708 1684526;2137905;2153196;2220490 RH41894;RH48677;RH99032;UniSTS:483548 ARPP;MGC104314;hArpp OTTHUMP00000020219;OTTHUMP00000020220;ankyrin repeat domain-containing protein 2;ankyrin-repeat protein;skeletal muscle ankyrin repeat protein APPROVED protein-coding ENSG00000165887 HGNC:495 12460 610734 REVIEWED 1625837 ANKRD20A4 ankyrin repeat domain 20 family, member A4 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 2 9 9 q21.11 89830250 89873428 - 69381981 69425109 + 64369563 64412691 + 6480464 15164053;16751776 728747 Q4UJ75 AC244112;AK307323;CR769776;DQ576528;NM_001098805 NP_001092275;Q4UJ75 Hs.645502 OTTHUMP00000069774;ankyrin repeat domain-containing protein 20A4 protein-coding ENSG00000172014 HGNC:31982 PROVISIONAL 1625836 ANKRD20A20P ankyrin repeat domain 20 family, member A20, pseudogene INTERACTS WITH (+)-catechin 2 9 9 q21.11 89806317 89829686 - 69423200 69448577 + 64410782 64436159 + 728788 CR769776;NG_016332 CCDC29 APPROVED pseudo HGNC:32319 INFERRED 6480405 ANKRD20A17P ankyrin repeat domain 20 family, member A17, pseudogene 4 4 49504165 49508042 - 49502148 49506025 - 100421363 AC119751;AMYH02009186;NG_025102 pseudo HGNC:43608 INFERRED 1343328 ANKRD20A18P ankyrin repeat domain 20 family, member A18, pseudogene 21 21 21 q11.2 593740 598609 + 15436540 15441409 + 14064219 14069088 + 391269 ABBA01057078;AC246819;AP001347;NG_009314 C21orf126 APPROVED pseudo HGNC:23756 INFERRED 2304149 ANKRD20A5P ankyrin repeat domain 20 family, member A5, pseudogene 18 18 18 p11.21 14058762 14106133 + 14179096 14227049 + 14179097 14227050 + 12477932;15342556;15489334 440482 A0PJZ0 ABBA01074044;AMYH02034357;AP001004;BC022023;BC127726;BP201899;CH471113;DB446908;NR_040113 A0PJZ0;AAH22023;AAI27727;EAX01494;EAX01495;EAX01496 Hs.632352 2155495 RH36536 ANKRD20A5;MGC26718 Putative ankyrin repeat domain-containing protein 20A-like protein MGC26718;ankyrin repeat domain 20 family, member A5;ankyrin repeat domain-containing protein 20A-like protein MGC26718;putative ankyrin repeat domain-containing protein 20A5 APPROVED pseudo HGNC:33833 VALIDATED 1604144 ANKRD20A19P ankyrin repeat domain 20 family, member A19, pseudogene 13 13 13 q12.12 5578100 5584790 - 24481423 24523454 - 23907284 23949315 - 19851299 400110 ABBA01007883;AK127292;AK128225;AL445985;AMYH02027697;AMYH02027698;CH471075;NR_073430 BAC86920;BAC87336;EAX08330 Hs.744780 5022649 D11S2875 FLJ46358 hypothetical protein LOC400110;putative uncharacterized protein FLJ46358 APPROVED pseudo HGNC:42737 13533 VALIDATED 1604892 ANKRD20A3 ankyrin repeat domain 20 family, member A3 INTERACTS WITH cadmium atom 2 9 9 p12 89829797 89873428 - 43089972 43133732 - 66109394 66153154 - 6480464 12477932;15164053 441425 B2RTT7;K7EJ15;Q5VUR7 AL513478;AMYH02020128;AMYH02020129;AMYH02020130;AMYH02020131;AMYH02020132;AMYH02020133;AMYH02020134;AMYH02020135;AMYH02020136;AMYH02020137;AMYH02020138;BC140809;BC171793;NM_001012419;XM_005272525 AAI40810;AAI67832;AAI71793;NP_001012419;Q5VUR7;XP_005272582 Hs.632663 MGC176486;MGC198508 OTTHUMP00000015360;ankyrin repeat domain 20A-related;ankyrin repeat domain-containing protein 20A3 protein-coding ENSG00000276203 HGNC:31981 17405 PROVISIONAL 1604891 ANKRD20A2 ankyrin repeat domain 20 family, member A2 INTERACTS WITH 8-bromo-3',5'-cyclic AMP; benzo[a]pyrene; copper(2+) sulfate 2 9 9 p12 89830250 89873428 - 42368303 42411410 + 40223285 40266392 + 6480464 12477932;15164053 441430 Q5SQ80 AL773545;AMYH02020043;AMYH02020044;AMYH02020045;AMYH02020046;AMYH02020047;AMYH02020048;AMYH02020049;AMYH02020050;BX664727;NM_001012421;XM_005272519 NP_001012421;Q5SQ80;XP_005272576 Hs.632663 MGC176486 OTTHUMP00000064580;ankyrin repeat domain-containing protein 20A2 protein-coding ENSG00000183148 HGNC:31979 18652 VALIDATED 3539631 ANKRD20A6P ankyrin repeat domain 20 family, member A6, pseudogene Y Y q11.1 13329294 13330115 + 11173618 11174439 + 728157 ABBA01008618;AC134878;NG_022981 pseudo HGNC:37714 INFERRED 4144668 ANKRD20A7P ankyrin repeat domain 20 family, member A7, pseudogene 9 9 p11.2 44075380 44118556 - 42852563 42895739 + 653436 AMYH02020194;CR848007;NG_012726 pseudo HGNC:31980 INFERRED 5133096 ANKRD20A9P ankyrin repeat domain 20 family, member A9, pseudogene INTERACTS WITH aflatoxin B1 13 13 q11 19408543 19446109 - 18834403 18871969 - 6480464 10737800;8889548 284232 ABBA01068539;AC203639;AC245149;AL355516;AL391382;BJ991373;DW423875;NR_027995 Hs.679496;Hs.694496;Hs.742626 1701216;1748423;2155495 G64223;RH104236;RH36536 pseudo HGNC:42023 PROVISIONAL 1351764 ANKRD20A8P ankyrin repeat domain 20 family, member A8, pseudogene INTERACTS WITH cadmium atom; 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 2 2 2 q11.1 89777074 89873221 - 95426673 95522820 - 94760928 94857075 - 6480464 729171 Q5CZ79 ABBA01003581;ABBA01003582;ABBA01003583;ABBA01003584;ABBA01003585;ABBA01003586;ABBA01003587;ABBA01003588;AC073464;AC097374;AMYH02004297;CR936649;NR_003366 CAI56787;Q5CZ79 Hs.456852 ANKRD20B;DKFZp686H1631 APPROVED pseudo HGNC:23666 VALIDATED 1322819 ANKRD24 ankyrin repeat domain 24 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; 17alpha-ethynylestradiol (ortholog) 19 19 19 p13.3 4122806 4164282 + 4182665 4224811 + 4182668 4224814 + 6480464 11853319;12477932;15146197;16169070;20467438;20936779 170961 M0QZ18;M0R0N9;Q8TF21 AB075861;ABBA01056081;ABBA01056082;ABBA01056083;AC005578;AC006930;AMYH02035277;AMYH02035278;AMYH02035279;AMYH02035280;BC028236;BI914435;BX117359;BX359277;CN286920;NM_133475;XM_005259510;XM_006722674;XM_006722675;XM_006722676;XM_006722677;XM_006722678 AAC33490;AAD15479;BAB85567;NP_597732;Q8TF21;XP_005259567;XP_006722737;XP_006722738;XP_006722739;XP_006722740;XP_006722741 Hs.197872 KIAA1981 ankyrin repeat domain-containing protein 24 protein-coding ENSG00000089847 HGNC:29424 PROVISIONAL 1602441 ANKRD26P1 ankyrin repeat domain 26 pseudogene 1 16 16 16 q11.2 31011416 31111174 - 46503249 46603009 - 46469337 46569097 - 11181995;12477932 124149 Q6NSI1;Q6ZU59 ABBA01013774;ABBA01013775;ABBA01013776;AC092368;AC106819;AK125968;AMYH02031962;AMYH02031963;AMYH02031964;AMYH02031965;BC070117;BX648636;CD000265;CH471092;CR749347;FP885539;NR_026556 BAC86367;CAH18200;EAW82764;Q6NSI1 Hs.97414 1681636;1753325 RH92015;SHGC-68819 DKFZp781D1722;FLJ43980;MGC87661 pseudo HGNC:32955 13482 VALIDATED 5129398 ANKRD26P2 ankyrin repeat domain 26 pseudogene 2 13 13 13 q13.3 20537488 20564271 - 39483365 39510341 - 38909228 38936204 - 646929 ABBA01021319;AL354819;AL445590;AL607149;AMYH02027893;NG_006568 1339884;1759775;1764029;1764033;1771620;1782954 AFMa130xc9;D13S1288;SHGC-147683;SHGC-147695;SHGC-150887;SHGC-156230 KIAA1074 pseudo HGNC:39687 INFERRED 1317302 ANKRD22 ankyrin repeat domain 22 INTERACTS WITH 17beta-estradiol; calcitriol; gadodiamide hydrate 10 10 10 q23.31 84326476 84358565 - 90579656 90611732 - 88819899 88851975 - 737633;6480464 12477932 15164054;15489334;16341674;16344560;16385451;17207965;20211142;20379614;8889549 118932 Q5VYY1 ABBA01021953;AK313969;AL157394;AL353113;AMYH02023504;AMYH02023505;BC021671;BM785517;CH471066;CS300545;DA672161;N95187;NM_144590 AAH21671;ADQ33206;BAG36684;CAK32209;EAW50159;NP_653191;Q5VYY1 Hs.217484 1665889;1670713;1710446;1740635;2130296 D20S990;RH47202;SHGC-32791;SHGC-57024;SHGC-82521 MGC22805 OTTHUMP00000020041;ankyrin repeat domain-containing protein 22 protein-coding HGNC:28321 12461 VALIDATED 1314711 ANKRD26 ankyrin repeat domain 26 This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 p12.1 27009534 27105923 - 27284054 27389427 - 26995118 27100498 - 6480464;7240710;8699517;8554872 10470851;12477932;14702039;15164054;15203218;15489334;16344560;17081983;20877624;21211618;21282530;21467542;22118674;22990118;23223974;23869080;24030261;24250222;24255178;24430186 22852 E7ESJ3;H0Y4T9;Q9UPS8 AB028997;ABBA01034403;ABBA01034404;AK001137;AK128577;AL137351;AL162063;AL162272;AMYH02022507;AMYH02022508;BC110646;BC130453;CD626319;CH471072;DA712092;DB228067;NG_031973;NM_001256053;NM_014915;XM_006717423;XM_006717424;XM_006717425;XM_006717426;XM_006717427;XM_006717428;XM_006717429;XM_006717430;XM_006717431;XM_006717432 AAI10647;AAI30454;BAA83026;BAA91516;BAC87508;CAB70706;CAB82401;EAW86073;NP_001242982;NP_055730;Q9UPS8;XP_006717486;XP_006717487;XP_006717488;XP_006717489;XP_006717490;XP_006717491;XP_006717492;XP_006717493;XP_006717494;XP_006717495 Hs.361041 1735990;2125290;2183690 D10S1279E;RH70636;WI-16405 KIAA1074;MGC163325;THC2;bA145E8.1 OTTHUMP00000019356;ankyrin repeat domain-containing protein 26;thrombocytopenia 2 (autosomal dominant) APPROVED protein-coding ENSG00000107890 HGNC:29186 16491 188000;610855 REVIEWED 5129292 ANKRD26P3 ankyrin repeat domain 26 pseudogene 3 13 13 13 q12.11 898817 980968 - 19836940 19919113 - 19262800 19344973 - 11181995;12477932 100101938 ABBA01068552;ABBA01068553;ABBA01068554;AL139327;AL356259;AMYH02027612;AMYH02027613;BC036210;CH471075;KF454905;KF454927;KF455739;KF459786;KF459787;KF459788;KF459789;KF459790;KF459791;KF459792;KF495667;NR_027248 EAX08214 Hs.129283 1758509 SHGC-148527 KIAA1074;LINC00414 pseudo HGNC:39689 VALIDATED 1321281 ANKRD23 ankyrin repeat domain 23 This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 91943786 91949893 - 97488599 97509758 - 96837914 96844021 - 1580863;2314858;2314859;6480464 12456686;15238456 10737800;12477932;14583192;14702039;15489334;15815621;18029348 200539 Q86SG2;Q96MF3 ABBA01036575;AC092636;AF492401;AJ315766;AK057011;AK092564;AMYH02004336;AMYH02004337;AY196212;BC038584;BC107056;BF827606;CH471207;NM_144994 AAI07057;AAO24067;AAO40750;AAY14965;BAB71342;BAC03915;CAC86120;EAW71331;EAW71332;EAW71333;NP_659431;Q86SG2 Hs.643430 1853247;2119172;2182517 RH41816;RH46431;SHGC-56804 DARP;FLJ32449;MARP3;MGC129593 OTTHUMP00000161094;OTTHUMP00000207608;OTTHUMP00000207609;ankyrin repeat domain-containing protein 23;diabetes related ankyrin repeat protein;diabetes-related ankyrin repeat protein;muscle ankyrin repeat protein 3 APPROVED protein-coding ENSG00000163126 HGNC:24470 12462 610736 REVIEWED 1350593 ANKRD30A ankyrin repeat domain 30A ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH bisphenol A; cyclosporin A; genistein 10 10 10 p11.21 37180898 37292246 + 37414785 37521495 + 37125742 37235820 + 1580863;6480464;8554872 11280766;15164054;15342556;16335914;16385451;16675566;17330232;17536312;17903294;18029348;18041742;18187620;18464913;18976975;19043545;21906983;22699663;23314748;23731661 91074 Q5W026;Q9BXX3;R4GNA2 ABBA01033304;ABBA01033305;AC067744;AF269087;AL157387;AL357148;AMYH02022648;AMYH02022649;AMYH02022650;AMYH02022651;AMYH02022652;AMYH02022653;BP312910;CH471072;DN831985;NM_052997;XM_006717527 AAI72447;AAK27325;EAW85904;NP_443723;Q9BXX3;XP_006717590 Hs.373787 1703484 SHGC-82599 NY-BR-1;RP11-20F24.1 OTTHUMP00000019457;OTTHUMP00000019458;ankyrin repeat domain-containing protein 30A;breast cancer antigen NY-BR-1;serologically defined breast cancer antigen NY-BR-1 protein-coding ENSG00000148513 HGNC:17234 10125 610856 VALIDATED 6481446 ANKRD26P4 ankyrin repeat domain 26 pseudogene 4 13 13 31885422 31887065 + 31311285 31312928 + 100873882 ABBA01010123;AL138965;AMYH02027812;NG_032348 pseudo HGNC:39690 INFERRED 7206963 ANKRD30BP3 ankyrin repeat domain 30B pseudogene 3 10 10 10 q11.21 41653310 41684694 + 45650110 45681489 + 45154662 45186041 + 12477932 338579 ABBA01050025;AK098688;AL358394;AL512324;AMYH02022733;BC031237;BC043208;NR_033891 AAH31237;BAC05379 Hs.666134 1782120;5020881;5037552 D8S2279;L17709;SHGC-155154 pseudo HGNC:27873 VALIDATED 1344415 ANKRD30BP2 ankyrin repeat domain 30B pseudogene 2 INTERACTS WITH cadmium atom 18 21 21 q11.2 15126362 15128242 + 14410487 14490572 + 13038166 13118251 + 6480464 12036297;12477932;15489334;17114284 149992 AF427490;AJ239321;AMYH02037511;AP001464;BC036510;BC126176;BC126178;DQ179138;DQ179139;DQ179140;DQ179141;NR_026916 AAM53529;ABB05089 Hs.558645;Hs.579474 5037552 D8S2279 C21orf99;CT85;CTSP-1;CTSP1 APPROVED pseudo HGNC:16620 10779 PROVISIONAL 2303829 ANKRD30BL ankyrin repeat domain 30B-like INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 2 2 2 q21.2 126625218 126734890 - 132905164 133015542 - 132147591 132257969 - 6480464 12477932;15197164;17114284 554226 A7E2S9 ABBA01028222;ABBA01028223;ABBA01028224;AC097532;AC098826;AMYH02004813;AMYH02004814;BC029821;BC045801;BC057764;BC150521;BG719107;CF272540;CH471058;CR747466;NR_027019;NR_027020 A7E2S9;EAX11681 Hs.380689 1711454;1793006 G47279;PMC18377P1 ANKRD30BP3;NCRNA00164 APPROVED pseudo ENSG00000163046 HGNC:35167 VALIDATED 1343361 ANKRD28 ankyrin repeat domain 28 FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; all-trans-retinoic acid; benzo[a]pyrene 3 3 3 p25.1 15646877 15840010 - 15708743 15901053 - 15667236 15859546 - 6480464 12168954;12477932;14702039;14743216;15146197;15231748;16564677;17023142;17928403;18186651;19118547;19380743;19596235;19615732;21139048;21187329;21890473;21963094;21988832;22268729;22586326;22863883;22990118;23000965;24255178;24654937;24816145;9205841 23243 B4DIW9;F8WDU2;O15084 AB002377;ABBA01025136;ABBA01025137;AC090945;AC090950;AI565587;AK126888;AK293770;AK295813;AK299540;AMYH02006333;AMYH02006334;AMYH02006335;AMYH02006336;AY367056;BC035170;BC048975;BC064513;BC080522;BC106948;BC113868;BC114476;BQ423818;CH471055;CN313636;NM_001195098;NM_001195099;NM_015199;XM_005264996;XM_005264997;XM_005264998;XM_006713074;XM_006713075;XM_006713076 AAI06949;AAI13869;AAI14477;AAI66612;AAQ72374;BAA20833;BAC86737;BAG57186;BAG58631;BAG61487;EAW64257;EAW64258;EAW64259;EAW64260;EAW64261;EAW64262;EAW64263;EAW64264;EAW64265;NP_001182027;NP_001182028;NP_056014;O15084;XP_005265053;XP_005265054;XP_005265055;XP_006713137;XP_006713138;XP_006713139 Hs.335239 1336766;1754161;1779014;2140679;2160571;2218220;5014051;5019219;7185155 ANKRD28__4312;D3S1286;D8S2278;DXS7953;SGC30737;SHGC-132190;SHGC-14778;SHGC-76750 KIAA0379;PITK;PPP1R65 OTTHUMP00000207863;OTTHUMP00000207865;OTTHUMP00000208043;PP6-ARS-A;ankyrin repeat domain-containing protein 28;phosphatase interactor targeting K protein;phosphatase interactor targeting protein hnRNP K;protein phosphatase 1, regulatory subunit 65;protein phosphatase 6 ankyrin repeat subunit A;serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A;serine/threonine-protein phosphatase 6 regulatory subunit ARS-A protein-coding ENSG00000206560 HGNC:29024 10651 611122 VALIDATED 1350728 ANKRD30BP1 ankyrin repeat domain 30B pseudogene 1 21 21 21 q11.2 22904 45940 - 14756163 14800096 - 13383842 13427775 - 642460 ABBA01030838;AL050302;AMYH02037512;NG_009612 1695616;1729604;1730632;1731337;1759837;1857640 D21S215;D21S308;D21S369;G48498;SHGC-170076;SHGC-51833 ANKRD30BP;C21orf110;PRED4 APPROVED pseudo HGNC:19722 INFERRED 1316102 ANKRD27 ankyrin repeat domain 27 (VPS9 domain) ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity; INVOLVED IN early endosome to late endosome transport; positive regulation of GTPase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; early endosome; lysosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; cycloheximide 19 19 19 q13.11 29781556 29859734 - 33087907 33166102 - 32597001 32675200 - 737633;1580863;6480464;8554872 12477932 11076863;11230166;11256614;14702039;15231748;15489334;15489336;15498874;16381901;16525121;18477474;19745841;19913121;19946888;20628086;21139048;21906983;23104059;23377640;24816145 84079 K7EIH4;K7EIN0;K7ELM1;K7ENE0;K7EPM2;Q96NW4;V9GYL8 AA903176;ABBA01039596;ABBA01039597;ABBA01039598;ABBA01039599;AC008474;AF447882;AK054561;AL136784;AL834335;AMYH02035920;BC015552;BC045605;BC050529;BI462844;NM_032139;XM_005259310;XM_006723412;XM_006723413 AAH50529;AAQ04657;BAB70755;CAB66718;CAD39003;CAL38738;NP_115515;Q96NW4;XP_005259367;XP_006723475;XP_006723476 Hs.59236 1734658;1767560 D19S607;D19S661E DKFZP434L0718;FLJ00040;PP12899;VARP VPS9 domain-containing protein;VPS9-ankyrin-repeat protein;Vps9 domain and ankyrin-repeat-containing protein;ankyrin repeat domain-containing protein 27 protein-coding ENSG00000105186 HGNC:25310 10650 VALIDATED 1317259 ANKRD29 ankyrin repeat domain 29 INTERACTS WITH 17beta-estradiol; arsenous acid; benzo[a]pyrene diol epoxide I 18 18 18 q11.2 17996135 18059022 - 21179977 21242849 - 23600013 23662885 - 737633;6480464 12477932 14702039;15489334;17207965;24256812;8889548 147463 K7EL63;K7EQM1;Q8N6D5;V9GYT2 ABBA01022627;ABBA01022628;ABBA01022629;ABBA01022630;ABBA01022631;ABBA01022632;AC010853;AK057782;AK123197;AK313667;AMYH02034418;BC030622;BM680506;CH471088;NM_173505 AAH30622;ADQ31854;BAB71569;BAC85555;BAG36419;EAX01159;EAX01160;NP_775776;Q8N6D5 Hs.374774 1672868;1672903;1731737;2151545;2171454 D18S511;G22474;HSCZUA082;RH11997;WI-14696 FLJ25053 OTTHUMP00000162701;ankyrin repeat domain-containing protein 29 protein-coding HGNC:27110 12464 VALIDATED 1354207 ANKRD30B ankyrin repeat domain 30B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; 3-methylcholanthrene; 5-aza-2'-deoxycytidine 21 18 18 p11.21 383 101344 - 14748239 14852737 + 14748240 14852738 + 6480464;8554872 11280766;12477932 374860 Q9BXX2 AADB02020312;AADB02020314;AADB02020315;AADB02020317;ABBA01074081;AF269088;AK294693;AMYH02034359;AMYH02034360;AMYH02034361;AP005121;AP006507;AP006564;AP006565;BC028407;CH471277;NM_001145029;XM_006722325 AAK27326;BAG57852;EAW53959;NP_001138501;Q9BXX2;XP_006722388 Hs.567889 1695616;1729604;1731337;1759837;5022578 D1S1423;D21S215;D21S369;G48498;SHGC-170076 NY-BR-1.1 ankyrin repeat domain-containing protein 30B;breast cancer antigen NY-BR-1.1;serologically defined breast cancer antigen NY-BR-1.1 protein-coding ENSG00000180777 HGNC:24165 VALIDATED 6481081 ANKRD33B-AS1 ANKRD33B antisense RNA 1 p15.2 100874247 AC106760;BG775433 APPROVED ncrna HGNC:41298 6480966 ANKRD33B-IT1 ANKRD33B intronic transcript 1 (non-protein coding) 100874376 AC106760 miscrna HGNC:41506 1344617 ANKRD33 ankyrin repeat domain 33 INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); negative regulation of transcription regulatory region DNA binding (inferred); skeletal muscle cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); nucleus (inferred); INTERACTS WITH paracetamol (ortholog) 12 12 12 q13.13 51083930 51087642 + 52281745 52285505 + 51888009 51891721 + 6480464;8554872 12477932;14702039;16541075;20026326;21107309 341405 F8VTQ6;Q0VAA8;Q5K617;Q7Z3H0 ABBA01031619;AC025259;AF517108;AF517109;AF517110;AF517111;AF517112;AF517113;AF517114;AF517115;AF517116;AF517117;AF517118;AF517119;AF517120;AK125517;AMYH02026495;BC121152;BC121153;BX537908;BX640656;BX647684;BX649168;CH471111;NM_001130015;NM_182608;XM_005268833;XM_005268834;XM_006719371 AAI21153;AAI21154;AAQ07989;AAQ07990;AAQ07991;AAQ07992;AAQ07993;AAQ07994;AAQ07995;AAQ07996;AAQ07997;AAQ07998;BAC86190;CAD97893;CAE45798;EAW58207;EAW58208;EAW58209;EAW58210;NP_001123487;NP_872414;Q7Z3H0;XP_005268890;XP_005268891;XP_006719434 Hs.433492 2184069;5107125 G65568;SHGC-32462 C12orf7;DKFZp686O1689 OTTHUMP00000241374;OTTHUMP00000241376;PANKY;ankyrin repeat domain-containing protein 33 protein-coding ENSG00000167612 HGNC:13788 12465 VALIDATED 1312535 ANKRD32 ankyrin repeat domain 32 FOUND IN centrosome (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; aflatoxin B1 5 5 5 q15 89816284 89893469 + 93953086 94033326 + 94617386 94697621 + 6480464 11230166;12477932;15632077;21139048;21693764;21963094;22036607 84250 B4DMG4;D6RED9;H0YBU1;I6L9F1;Q9BQI6 ABBA01069268;AC008534;AC025766;AK297452;AK299080;AK309859;AL050298;AL136560;AMYH02011812;AMYH02011813;AMYH02011814;BC015315;BC054885;BC063674;BC070332;BC107571;BU431750;CH471084;CR533539;CR936768;DR001089;KC877045;NM_032290;XM_005272113;XM_006714720 AAH54885;AAH63674;AAH70332;AAI07572;ACE86937;ACE87625;BAG59876;BAG61145;CAB43397;CAB66495;CAG38570;EAW96026;EAW96027;EAW96028;EAW96029;NP_115666;Q9BQI6;XP_005272170;XP_006714783 Hs.657315 1647531;1656655;1847111 A006Q05;R58928;RH12463 BRCTD1;BRCTx;DKFZp564C0469;DKFZp761C121 BRCT domain containing 1;BRCT domain-containing protein 1;OTTHUMP00000149936;ankyrin repeat domain-containing protein 32 protein-coding ENSG00000133302 HGNC:25408 08538 VALIDATED 1347090 ANKRD34A ankyrin repeat domain 34A FOUND IN cytoplasm; INTERACTS WITH arsenite(3-); melphalan; choline (ortholog) 1 1 1 q21.1 119673860 119679002 + 145470508 145475647 + 145959441 145964582 - 6480464 14702039;16344560;18029348;8889548 284615 Q69YU3 ABBA01005743;ABBA01005744;AC243547;AK094282;AK128050;AL160282;AL359622;BM723295;DA081864;NM_001039888;XM_005277391;XM_006711279 BAG52855;BAG54622;CAH10676;NP_001034977;Q69YU3;XP_005277448;XP_006711342 Hs.620591 1658744 SHGC-3211 ANKRD34;DKFZp761F202 OTTHUMP00000015577;ankyrin repeat domain 34;ankyrin repeat domain-containing protein 34A protein-coding ENSG00000272031 HGNC:27639 VALIDATED 1354086 ANKRD31 ankyrin repeat domain 31 ASSOCIATED WITH Lung Neoplasms (inferred) 5 5 5 q13.3 70258290 70426854 - 74364122 74532703 - 75068297 75236878 - 6480464;8554872 14702039;22952603;24250222 256006 D6RJB7;Q8N7Z5 ABBA01061941;ABBA01061942;AC008769;AC093259;AK097510;AMYH02011582;AMYH02011583;NM_001164443 BAC05081;NP_001157915;Q8N7Z5 Hs.482533 1338742;1339587;1690570;1699120;1779202;1780180;1857253;2144805;2175013 AFMa106we5;D5S1351;D5S2003;D5S2643;RH103136;RH75379;SHGC-150778;SHGC-154551;STS-AA010697 FLJ40191 ankyrin repeat domain-containing protein 31;putative ankyrin repeat domain-containing protein 31 protein-coding ENSG00000145700 HGNC:26853 INFERRED 2307384 ANKRD33B ankyrin repeat domain 33B ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-demecolcine; paracetamol; valproic acid 5 5 5 p15.2 10602518 10695071 + 10564435 10657928 + 10564323 10657816 + 6480464;8554872 14702039;15372022 651746 A6NCL7;D6R912 ABBA01020604;ABBA01020605;AC106760;AC112200;AF056441;AK023999;AMYH02010852;AMYH02010853;BC018597;HG497769;NM_001164440;XM_005248343;XM_005248344 A6NCL7;NP_001157912;XP_005248400;XP_005248401 Hs.26039 1763237;2174939 A006S19;SHGC-146966 RP11-215G15.5 Ankyrin repeat domain-containing protein LOC651746;OTTHUMP00000221154;ankyrin repeat domain-containing protein 33B protein-coding HGNC:35240 VALIDATED 1604706 ANKRD34B ankyrin repeat domain 34B FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 1,3-dinitrobenzene (ortholog); 2,2',5,5'-tetrachlorobiphenyl (ortholog); choline (ortholog) 5 5 5 q14.1 75753876 75767603 - 79852574 79866304 - 80556755 80570485 - 6480464 12477932;15358210 340120 A5PLL1;D6RH12 ABBA01062043;AC008434;AC018764;AMYH02011669;AMYH02011670;AMYH02011671;BC137441;BC137442;BC142957;CH471084;CR749535;NM_001004441;XM_006714599 A5PLL1;AAI37442;AAI37443;AAI42958;AAI43088;AAI43089;ACE86934;CAH18341;EAW95857;EAW95858;NP_001004441;XP_006714662 Hs.519404 DP58 OTTHUMP00000222288;OTTHUMP00000222289;ankyrin repeat domain-containing protein 34B;cytosolic phosphoprotein DP58;dendritic phosphoprotein 58 kDa protein-coding ENSG00000189127 HGNC:33736 13246 VALIDATED 4144543 ANKRD36BP2 ankyrin repeat domain 36B pseudogene 2 2 2 2 p11.2 87683191 87723878 - 89065419 89106110 + 88765902 88806596 + 12477932;14702039 645784 ABBA01018821;ABBA01018822;ABBA01018823;AC096579;AC244205;AK097649;AL137717;BC031698;BX537549;BX648045;NR_015424 Hs.105323 1686590;2174363 RH66284;STS-M78662 DKFZp434J1630;DKFZp686E1246;DKFZp686O04183;FLJ40330 pseudo ENSG00000230006 HGNC:33607 PREDICTED 2291762 ANKRD34C ankyrin repeat domain 34C ASSOCIATED WITH Melanoma (inferred) 15 15 15 q25.1 56511721 56527148 + 79575146 79590581 + 79282804 79298239 + 8554872 14702039 390616 P0C6C1 ABBA01060605;AC011797;AK090665;AK127037;AL109678;AMYH02030876;NM_001146341 NP_001139813;P0C6C1 Hs.531231 1646250;1783186 SHGC-142380;WI-15561 FLJ33346;FLJ45093 ankyrin repeat domain-containing protein 34C protein-coding HGNC:33888 VALIDATED 1352290 ANKRD35 ankyrin repeat domain 35 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; pirinixic acid; progesterone 1 1 1 q21.1 119752581 119771890 + 145549209 145568526 + 145866560 145885866 - 6480464;8554872 12107411;12477932;14702039;15489334;16344560;16710414;19471022;21900206 148741 B4DFX6;B4DL62;Q8N283 ABBA01005742;AC243547;AK057853;AK091120;AK294308;AK296861;AL160282;AW245831;BC101618;BC101620;BQ636616;CH471244;DA399526;HY327286;NM_001280799;NM_144698 AAI01619;AAI01621;BAB71597;BAC03587;BAG57587;BAG59424;EAW71426;EAW71427;NP_001267728;NP_653299;Q8N283 Hs.710624 2135574 AL009334 FLJ25124;MGC126667;MGC126669 OTTHUMP00000015579;ankyrin repeat domain-containing protein 35 protein-coding ENSG00000198483 HGNC:26323 08050 VALIDATED 1342961 ANKRD36 ankyrin repeat domain 36 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-fluorouracil; methyl methanesulfonate 2 2 2 q11.2 537 4472 + 97778923 97930258 + 97113186 97264521 + 737633;6480464;8554872 12477932 10997877;12975309;14702039;15489334;15815621;16344560;17207965;8889548 375248 A6QL64 AB046861;ABBA01010977;ABBA01036558;ABBA01036559;ABBA01036560;ABBA01036561;AC018892;AC160020;AF543495;AK090926;AK304740;AK307629;AK316541;AMYH02004340;AMYH02004341;AMYH02004342;AMYH02004343;AMYH02004344;AMYH02004345;AY358571;BC046186;BC128262;BC128517;BC146835;BX647769;CH471207;DA952980;DB516113;DW413497;NM_001164315;XM_005263937;XM_005263938;XM_006712514;XM_006712515;XM_006712516;XM_006712517;XR_427086 A6QL64;AAH46186;AAI28263;AAI28518;AAI46836;AAN40505;AAQ88934;AAY14642;ADQ33052;BAB13467;BAG65500;BAH14912;EAW71306;EAW71307;NP_001157787;XP_005263994;XP_005263995;XP_006712577;XP_006712578;XP_006712579;XP_006712580 Hs.541894 1690938;2185484 G04101;RH92495 FLJ33607;KIAA1641;MGC167812;UNQ2430 OTTHUMP00000207832;ankyrin repeat domain-containing protein 36;ankyrin repeat domain-containing protein 36A;ankyrin-related protein-coding ENSG00000135976 HGNC:24079 16492 PROVISIONAL 2303683 ANKRD36BP1 ankyrin repeat domain 36B pseudogene 1 INTERACTS WITH copper(2+) sulfate; disodium selenite (ortholog); flutamide (ortholog) 1 1 1 q24.2 141323828 141325693 - 168214803 168216668 - 168245565 168247430 - 6480464 12477932;16189514;16344560;21832049 84832 Q96IX9 ABBA01047231;AL009051;AMYH02002102;BC007072;DA219755;DA246884;DB229590;NR_026844 Q96IX9 Hs.537067 1671868;1676606;2174363 D1S279E;RH64481;STS-M78662 ANKRD26L1;ANKRD36BL1;MGC12538 APPROVED pseudo ENSG00000214262 HGNC:28169 VALIDATED 1604164 ANKRD37 ankyrin repeat domain 37 FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-demecolcine; 1,10-phenanthroline; 17beta-estradiol 4 4 4 q35.1 183644030 183647577 + 186317840 186321529 + 185396686 185400375 + 6480464 12477932;15489334;15809689;19491311;21890473;24250222 353322 B4E066;D6RCL4;D6RFF5;Q7Z713 ABBA01070532;AC106897;AK303243;AMYH02010662;AY296056;BC088376;CH471056;NM_181726;XM_005262981 AAH88376;AAP50252;BAG64328;EAX04647;EAX04648;NP_859077;Q7Z713;XP_005263038 Hs.508154 1649687;1666840;2128602 SHGC-67400;SHGC-68105;WI-14754 Lrp2bp;MGC111507 OTTHUMP00000218248;ankyrin repeat domain-containing protein 37;hLrp2bp;low density lipoprotein receptor-related protein binding protein;low-density lipoprotein receptor-related protein 2-binding protein protein-coding ENSG00000186352 HGNC:29593 17461 PROVISIONAL 1602616 ANKRD36C ankyrin repeat domain 36C INTERACTS WITH cytarabine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 2 2 2 q11.1 91015332 91035982 - 96516914 96658068 - 95828730 95992320 - 6480464 14702039;22505724;8608414 400986 E9PJI0;H0YDI7;H7BXK8;Q5JPF3 ABBA01030072;ABBA01030073;ABBA01030074;ABBA01030075;ABBA01030076;ABBA01030077;ABBA01030078;ABBA01030079;AC008268;AC013272;AC073995;AK123626;AK124101;AK302433;AL832836;AL832977;AMYH02004320;AMYH02004321;U28831;XM_003960295;XM_005276211;XM_005276212;XM_005276213;XM_006710134;XM_006710135;XM_006710136;XM_006710137;XM_006712888;XM_006712889;XM_006712890;XM_006712891;XM_006712892;XM_006712893;XM_006726394;XM_006726395;XM_006726396;XR_251121;XR_251122;XR_251123;XR_251124;XR_251125;XR_251126;XR_251127;XR_251128;XR_425435;XR_425436;XR_425437;XR_427131;XR_427132;XR_427133;XR_427134;XR_427135;XR_427136;XR_427137;XR_431454;XR_431455 AAB02177;BAG63735;CAH56324;CAI46156;Q5JPF3;XP_003960344;XP_005276268;XP_005276269;XP_005276270;XP_006710197;XP_006710198;XP_006710199;XP_006710200;XP_006712951;XP_006712952;XP_006712953;XP_006712954;XP_006712955;XP_006712956;XP_006726457;XP_006726458;XP_006726459 Hs.646318 2174363 STS-M78662 FLJ42107;HEM1 OTTHUMP00000207419;ankyrin repeat domain-containing protein 36C;protein immuno-reactive with anti-PTH polyclonal antibodies APPROVED protein-coding HGNC:32946 17388 MODEL 1602991 ANKRD40 ankyrin repeat domain 40 INTERACTS WITH atrazine; bisphenol A; hydrogen peroxide 17 17 17 q21.33 45231886 45246618 - 48770551 48785270 - 50693190 50707909 - 6480464 12477932;15489334;17207965;19322201;19913121;20628086;21139048;21906983;21942715;22863883;23443559;24816145 91369 A8IK34;K7ERW4;Q6AI12 ABBA01041244;AC005921;AK314010;AMYH02033597;BC005853;BC012978;CH471109;CR627413;EU164539;NM_052855 AAH12978;ABW05020;ADQ32683;BAG36721;CAH10502;EAW94589;NP_443087;Q6AI12 Hs.463426 5016478 GDB:434012 DKFZp451K241;MGC15396 OTTHUMP00000221729;ankyrin repeat domain-containing protein 40 protein-coding ENSG00000154945 HGNC:28233 17502 VALIDATED 1605233 ANKRD42 ankyrin repeat domain 42 ENCODES a protein that exhibits NF-kappaB binding (inferred); structural constituent of ribosome (inferred); INVOLVED IN positive regulation of cytokine production involved in inflammatory response (inferred); positive regulation of NF-kappaB transcription factor activity (inferred); translation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); ribosome (inferred); INTERACTS WITH all-trans-retinoic acid; 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q14.1 80214956 80269666 + 82904754 82967719 + 83193712 83260270 + 6480464;8554872 12477932;14702039;15489334;17123353;21382349;21906983;22118674 338699 E9PIL2;E9PKE2;E9PP91;E9PR10;F8W6I9;H0YE80;Q8N9B4 ABBA01017362;AK095193;AK310765;AMYH02025191;AP000873;BC045621;BC062729;BC171752;BU674837;BX648690;CA447533;CH471076;DQ508815;DQ508934;EF041819;NM_001300972;NM_001300973;NM_001300975;NM_001300976;NM_001300977;NM_182603;NR_125355;XM_005273971;XM_005273972;XM_006718532 AAH45621;AAH62729;ABF57994;ABF60230;ABL09300;BAC04496;EAW75086;EAW75087;NP_001287901;NP_001287902;NP_001287904;NP_001287905;NP_001287906;NP_872409;Q8N9B4;XP_005274028;XP_005274029;XP_006718595 Hs.503438;Hs.657164 1700012;1737643;2174205;5016679 A004Q14;D11S3248;RH103618;RH70808 FLJ37874;PPP1R79;SARP OTTHUMP00000235034;OTTHUMP00000235036;OTTHUMP00000235037;OTTHUMP00000235038;ankyrin repeat domain-containing protein 42;several ankyrin repeat protein protein-coding ENSG00000137494 HGNC:26752 08230 VALIDATED 3378225 ANKRD36P1 ankyrin repeat domain 36 pseudogene 1 Y Y Y q11.23 9481640 9502237 + 28555667 28585150 + 26409520 26439003 + 9847074 100132420 ABBA01015501;ABBA01015502;ABBA01015503;ABBA01015504;ABBA01015505;ABBA01015506;AC013734;NG_029080 5116742 sY3159 pseudo HGNC:37759 INFERRED 1352925 ANKRD36B ankyrin repeat domain 36B INTERACTS WITH 5-fluorouracil; copper(2+) sulfate; crotonaldehyde 2 2 2 q11.2 16405 32510 + 98109009 98206708 - 97492663 97590245 - 737633;6480464 12477932 10997877;12107410;14702039;15489334;16344560 57730 Q8N2N9;Q8TDH5 ABBA01073644;ABBA01073645;ABBA01073646;ABBA01160606;AC017099;AC073995;AC159540;AF432208;AF432209;AK024934;AK056042;AK074570;AMYH02004373;AMYH02004374;AMYH02004375;BC017427;BC031883;BC038460;BC044844;BC071771;BC125132;BC125133;BM511319;CA394381;CH878726;CR741521;DB105321;DB353103;DR001190;NM_025190;XM_005263995;XM_006712661;XM_006712662;XM_006712663;XM_006712664;XM_006712665;XM_006712666;XM_006712667;XM_006712668;XM_006712669;XM_006712670;XR_244894 AAH31883;AAH44844;AAI25133;AAI25134;AAL99915;AAL99916;AAY24080;BAB15039;BAB71081;BAC11066;EAW53903;EAW53904;EAW53905;EAW53906;EAW53907;EAW53908;NP_079466;Q8N2N9;XP_005264052;XP_006712724;XP_006712725;XP_006712726;XP_006712727;XP_006712728;XP_006712729;XP_006712730;XP_006712731;XP_006712732;XP_006712733 Hs.532921 1690938;5020948;5022578;5022651 D11S2921;D1S1423;G35510;RH92495 FLJ21281;FLJ90089;KIAA1641;MGC149864;MGC149865;MGC167812 CLL-associated antigen KW-1;OTTHUMP00000161108;ankyrin repeat domain-containing protein 36B;melanoma-associated antigen protein-coding ENSG00000196912 HGNC:29333 10027 PROVISIONAL 6481072 ANKRD44-IT1 ANKRD44 intronic transcript 1 (non-protein coding) 2 2 q33.1 198115585 198167243 - 197250858 197302519 - 12477932;9847074 101927547 ABBA01062468;ABBA01062469;ABBA01062470;AC010746;AC074092;AMYH02005518;BC042827;HG495096;NR_046837 Hs.687027 AC010746.2 ncrna HGNC:41477 VALIDATED 1602717 ANKRD39 ankyrin repeat domain 39 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 2-methylcholine; benzo[a]pyrene 2 2 2 q11.2 91953885 91963918 - 97513722 97523756 - 96847985 96858019 - 6480464;8554872 11042152;12477932;15489334;15592455;15815621;16344560;17207965;21145461;21832049;21906983;23824909 51239 Q53RE8 ABBA01036574;AC092636;AF151034;AK312193;AMYH02004337;BC031303;BU626151;BX091421;CH471207;DA769410;NM_016466 AAF36120;AAH31303;AAY14966;ADQ32451;BAG35126;EAW71328;EAW71329;EAW71330;NP_057550;Q53RE8 Hs.709507 1848143;1851835 D2S2834;RH78004 MGC41816 OTTHUMP00000161089;OTTHUMP00000207740;ankyrin repeat domain-containing protein 39 protein-coding ENSG00000213337 HGNC:28640 14614 VALIDATED 1605602 ANKRD44 ankyrin repeat domain 44 INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; arsenite(3-) 2 2 2 q33.1 191615131 191818640 - 197831741 198175521 - 196967017 197310797 - 6480464 12477932;14702039;15489334;16555005;18186651;19240061;19596235;20379614;21187329;22990118;24255178 91526 B7Z6Z7;C9JY51;F8WBW3;H7C209;H7C3P1;H7C4A0;J3KN93;Q8N8A2 ABBA01062465;ABBA01062466;ABBA01062467;ABBA01062468;AC010746;AC013264;AC017035;AC074092;AI439698;AK021632;AK097086;AK124039;AK301209;AL133087;AMYH02005517;AMYH02005518;BC016985;BC050586;BC063622;CH471063;NM_001195144;NM_153697;XM_005246945;XM_005246946;XM_005246947;XM_005246948;XM_006712838 AAH16985;AAH50586;AAH63622;AAX93155;AAY15060;BAC04946;BAH13433;CAB61404;EAW70141;EAW70142;NP_001182073;NP_710181;Q8N8A2;XP_005247002;XP_005247003;XP_005247004;XP_005247005;XP_006712901 Hs.432706 1652267;1658405;1666191;1677925;1679389;1700264;1734958;1754445;1778775;2165524;2178505;5022450;5037552 A008Y34;AFMa121yh1;D10S275;D2S1710E;D2S2651;D2S2667;D8S2279;RH103749;RH93013;RH94357;SHGC-132573;SHGC-17220;SHGC-36159 FLJ11570;MGC21968;MGC70444;PP6-ARS-B OTTHUMP00000205625;OTTHUMP00000205626;OTTHUMP00000205627;OTTHUMP00000205628;ankyrin repeat domain-containing protein 44;protein phosphatase 6 ankyrin repeat subunit B;serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B;serine/threonine-protein phosphatase 6 regulatory subunit ARS-B protein-coding ENSG00000065413 HGNC:25259 14284 VALIDATED 1606551 ANKRD49 ankyrin repeat domain 49 INVOLVED IN positive regulation of transcription, DNA-templated; FOUND IN nucleus (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q21 91514963 91520554 + 94227153 94232744 + 94493987 94499578 + 6480464 11162141;11371508;12477932;14702039;15489334;16131492;17207965;19773279;25036637 54851 F5GWD9;F5H227;F5H3B3;F5H7L0;F6R851;Q8WVL7 ABBA01040029;AF025354;AK000196;AK000448;AK057696;AL833977;AMYH02025373;AP000786;AP000943;BC017798;BG025192;CH471065;NM_017704 AAH17798;AAK60412;ACE86482;ACE87163;ADQ32155;BAA91003;CAD38821;EAW66935;EAW66936;NP_060174;Q8WVL7 Hs.29052 1689682;1772028;1788090;1788100;2156266 G67220;G67298;RH68924;SHGC-35949;STS-R70005 FGIF;FLJ20189;FLJ20441;GBIF OTTHUMP00000236878;OTTHUMP00000236884;OTTHUMP00000236885;ankyrin repeat domain-containing protein 49;fetal globin-inducing factor protein-coding ENSG00000168876 HGNC:25970 16893 VALIDATED 1603620 ANKRD50 ankyrin repeat domain 50 INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; cobalt dichloride 4 4 4 q28.1 122965825 123014509 - 125585203 125633887 - 124664048 124712732 - 6480464 10574462;12477932;14702039;21832049 57182 Q8TB46;Q9ULJ7 AA628892;AB033049;ABBA01044769;AC105421;AF075020;AK091516;AK127496;AK291068;AK295135;AL110131;AMYH02010035;BC024725;BE887185;BX508307;BX640674;CD359799;CH471056;CX871714;NM_001167882;NM_020337 AAH24725;ADZ15484;BAA86537;BAC87007;BAF83757;BAG58158;CAE45806;EAX05206;NP_001161354;NP_065070;Q9ULJ7 Hs.480694 1645736;1687672;1772216;2147810;2175273;2180036 D4S3303;G09526;RH99075;SHGC-36222;SHGC-50186;STS-R72441 KIAA1223 OTTHUMP00000220148;OTTHUMP00000220149;ankyrin repeat domain-containing protein 50 protein-coding ENSG00000151458 HGNC:29223 13843 VALIDATED 1606443 ANKRD46 ankyrin repeat domain 46 This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 8 8 8 q22.2 97718378 97757379 - 101521980 101572014 - 100509752 100559786 - 6480464;8554872 11297942;12477932;14702039;15152081;15489334;16344560;17176038;19322201;21041692;21139048;21219636;21890473;21906983;21963094;22053931;22559327;23000965;8619474;9110174 157567 B3KT99;E5RFM7;E5RHV2;E5RI04;E5RI20;J3KP26;Q86W74 AB077205;ABBA01037578;AK095235;AL832842;AMYH02018505;AP000424;BC015811;BC035087;BC050396;BC060843;CH471060;DA503253;KC877291;NM_001270377;NM_001270378;NM_001270379;NM_198401;U79297;XM_006716509 AAH50396;AAH60843;BAD23947;BAG53011;CAI46169;EAW91808;EAW91809;EAW91810;EAW91811;NP_001257306;NP_001257307;NP_001257308;NP_940683;Q86W74;XP_006716572 Hs.530199 1646744;1690097;1773853;1773939;1848284;2154363;2154365;5094908 A005E22;A005P20;ANKRD46;D8S2126;G20396;HSCZOG032;RH15880;RH93372 ANK-S;GENX-115279 OTTHUMP00000227299;OTTHUMP00000227300;OTTHUMP00000227301;OTTHUMP00000227302;OTTHUMP00000227304;ankyrin repeat domain-containing protein 46;ankyrin repeat small protein APPROVED protein-coding ENSG00000186106 HGNC:27229 14103 REVIEWED 1605877 ANKRD54 ankyrin repeat domain 54 ENCODES a protein that exhibits protein complex binding (inferred); protein kinase regulator activity (inferred); INVOLVED IN positive regulation of erythrocyte differentiation (ortholog); regulation of intracellular signal transduction (ortholog); FOUND IN cytoplasm (ortholog); midbody (ortholog); nucleus (ortholog); INTERACTS WITH 2-methylcholine; copper(2+) sulfate; methyl methanesulfonate 22 22 22 q13.1 22028653 22042127 - 38226862 38240353 - 37830854 37848693 - 6480464 10591208;12477932;14702039;15461802;15489334;22527282;23503679 129138 B5MCX7;C9JU48;C9JX82;D3YTC9;F8WB76;H7BZV9;H7C3L3;Q6NXT1;V9GYU2 ABBA01055489;ABBA01055490;AK127583;AMYH02038341;AMYH02038342;BC014641;BC066909;BX401122;CD300696;CH471095;CR456471;NM_138797;NR_036556;XM_006724135;XM_006724136;XM_006724137;XM_006724138;Z97630 AAH14641;AAH66909;BAC87043;CAG30357;EAW60192;EAW60193;EAW60194;NP_620152;Q6NXT1;XP_006724198;XP_006724199;XP_006724200;XP_006724201 Hs.135259 2173725;2175739;2181145 A006R14;G28411;HSC1OE012 LIAR OTTHUMP00000198179;OTTHUMP00000198181;OTTHUMP00000198182;OTTHUMP00000198183;OTTHUMP00000198184;OTTHUMP00000198186;ankyrin repeat domain-containing protein 54;lyn-interacting ankyrin repeat protein protein-coding ENSG00000100124 HGNC:25185 14042 613383 VALIDATED 1601705 ANKRD52 ankyrin repeat domain 52 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4'-tetrachlorobiphenyl (ortholog); aflatoxin B1 (ortholog) 12 12 12 q13.3 56284485 56305031 - 56631591 56652143 - 56237807 56258359 - 6480464;8554872 12477932;12975309;14702039;16541075;16964243;18186651;19596235;19615732;19913121;20628086;21187329;21963094;22505724;22586326;24255178 283373 B3KWN0;Q8NB46 AB190990;ABBA01008412;ABBA01008413;ABBA01008414;AC073896;AK056831;AK125379;AK126893;AMYH02026563;AY358160;BC024309;BC042070;CH471054;DR002390;NM_173595 AAQ88527;BAG16262;BAG54192;EAW96919;NP_775866;Q8NB46 Hs.524506 1644667;1686054 RH98394;SGC34394 ANKRD33;FLJ34236 CVWG5837;OTTHUMP00000243511;PP6-ARS-C;ankyrin repeat domain 33;ankyrin repeat domain-containing protein 52;protein phosphatase 6 ankyrin repeat subunit C;serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C;serine/threonine-protein phosphatase 6 regulatory subunit ARS-C protein-coding ENSG00000139645 HGNC:26614 VALIDATED 1606657 ANKRD45 ankyrin repeat domain 45 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q25.1 146686889 146748471 - 173577475 173639001 - 173608336 173669862 - 8554872 12477932;14702039;16710414;21832049 339416 Q5TZF3 ABBA01027902;ABBA01027903;AK127170;AL139142;AMYH02002156;BC029866;BC126353;BC126355;BX248409;CH471067;NM_198493 AAI26354;AAI26356;ADR82913;BAC86865;EAW90950;NP_940895;Q5TZF3 Hs.130054 1648097;1704218;5037552 D8S2279;GDB:1317994;SHGC-83129 CT117;FLJ45235;MGC161631;MGC161633;RP3-436N22.4 OTTHUMP00000038346;ankyrin repeat domain-containing protein 45;cancer/testis antigen 117 protein-coding HGNC:24786 13501 VALIDATED 1605952 ANKRD55 ankyrin repeat domain 55 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; progesterone; silicon dioxide 5 5 5 q11.2 52349365 52481877 - 55395507 55529186 - 56099675 56233359 - 6480464;8554872 12477932;14702039;15372022;15489334;16344560;20080650;20211142;20453842;20686565;21383967;22130326;23128233;23263486;23315543;23382691;23457408;23535033;24390342 79722 D6R9N4;D6RBD3;Q3KP44 ABBA01015761;ABBA01015762;AC016585;AC016638;AK021857;AK123389;AMYH02011325;AMYH02011326;AMYH02011327;AMYH02011328;AW269928;BC106914;BC106915;CH471123;DA292581;KC876981;KF457925;NM_024669;XM_005248599;XM_006714691 AAI06915;AAI06916;BAB13916;BAG53900;EAW54941;EAW54942;NP_078945;Q3KP44;XP_005248656;XP_006714754 Hs.436214 1340434;1652121;1654241;1659837;1680042;1681708;1729654;1767769;2128625;2166710;2179445 A006Y08;D5S1547;D5S1739;D5S1966;D5S354;G16892;G19195;RH64979;RH80632;SGC30290;WI-13498 FLJ11795;MGC126013;MGC126014 OTTHUMP00000221878;OTTHUMP00000221879;ankyrin repeat domain-containing protein 55 protein-coding ENSG00000164512 HGNC:25681 07758 615189 VALIDATED 1605329 ANKRD53 ankyrin repeat domain 53 INTERACTS WITH benzo[a]pyrene; choline (ortholog); folic acid (ortholog) 2 2 2 p13.3 71056255 71063308 + 71205172 71212629 + 70978028 70985499 + 6480464 12477932;14702039;15489334;16344560;20211142 79998 C9JQK2;C9JZ61;Q8N9V6 ABBA01075545;AC007040;AK022118;AK093479;AMYH02004048;BC035234;CH471053;DB036445;NM_001115116;NM_024933;XM_005264569 AAH35234;BAC04181;EAW99786;EAW99787;EAW99788;EAW99789;NP_001108588;NP_079209;Q8N9V6;XP_005264626 Hs.512744 1649349;1789242;5022322;5037552 D11S2560;D8S2279;G65621;RH47589 FLJ12056;FLJ36160 OTTHUMP00000160126;OTTHUMP00000203459;OTTHUMP00000203460;OTTHUMP00000203461;ankyrin repeat domain-containing protein 53 protein-coding ENSG00000144031 HGNC:25691 07762 VALIDATED 3476309 ANKRD57P1 ankyrin repeat domain 57 pseudogene 1 Y Y q11.1 13323668 13324836 - 11167992 11169160 - 100131984 ABBA01017939;AC134878;NG_022994 2111288 D17S837 pseudo HGNC:37984 INFERRED 4889255 ANKRD54P1 ankyrin repeat domain 54 pseudogene 1 10 10 10 41650079 41650804 - 45646888 45647613 - 45151440 45152165 - 100419962 ABBA01050025;AL358394;AMYH02022733;NG_025432 pseudo HGNC:39214 INFERRED 2302254 ANKRD62 ankyrin repeat domain 62 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 18 18 18 p11.21 11976190 12012264 + 12093848 12129763 + 12093849 12129764 + 6480464;8554872 342850 A6NC57 ABBA01074010;AMYH02034323;AMYH02034324;AP002414;BX648696;BX649021;CH471113;DW010010;DW010011;EG328348;NM_001277333;XM_003959949 A6NC57;EAX01556;EAX01557;NP_001264262;XP_003959998 Hs.448906 1786048;5014051;5037552 D8S2278;D8S2279;SHGC-155539 DKFZp686E2239;DKFZp779B1634 ankyrin repeat domain-containing protein 62 protein-coding HGNC:35241 VALIDATED 1315900 ANKRD60 ankyrin repeat domain 60 INTERACTS WITH benzo[a]pyrene; cadmium dichloride; paracetamol (ortholog) 20 20 20 q13.32 53533993 53544127 - 56793510 56804039 - 58218454 58223281 - 6480464 11780052;19893584;19913121;20628086 140731 Q9BZ19 ABBA01005981;AL354776;AMYH02037361;CH471077;XM_006710087;XM_006723895;XM_006726793 EAW75502;Q9BZ19;XP_006710150;XP_006723958;XP_006726856 1683499 RH45766 C20orf86;bA196N14.3 OTTHUMP00000031385;ankyrin repeat domain-containing protein 60;chromosome 20 open reading frame 86 protein-coding HGNC:16217 12788 MODEL 7111868 ANKRD61 ankyrin repeat domain 61 7 7 p22 6071007 6076183 + 6031376 6036552 + 12853948 100310846 A6NGH8 ABBA01029368;AC005995;AI221268;AMYH02015164;NM_001271700 A6NGH8;NP_001258629 Hs.744468 ankyrin repeat domain-containing protein 61 protein-coding ENSG00000157999 HGNC:22467 INFERRED 5508531 ANKRD65 ankyrin repeat domain 65 INTERACTS WITH aflatoxin B1; benzo[a]pyrene; indole-3-methanol (ortholog) 1 1 1 p36.33 1224608 1227458 + 1353800 1356824 - 1418420 1421444 - 6480464 11181995;12477932;2302192;24163370 441869 E5RJM6 ABBA01016038;ABBA01016039;AI094806;AI522076;AL391244;AMYH02000097;BC018095;BC063445;BC073150;BC094869;CH471183;M32220;NM_001145210;NM_001243535;NM_001243536;XM_005244752;XM_006710647 ACE86612;ACE87293;E5RJM6;EAW56204;EAW56205;NP_001138682;NP_001230464;NP_001230465;XP_005244809;XP_006710710 Hs.381222 ankyrin repeat domain-containing protein 65;hypothetical protein LOC441869;uncharacterized protein LOC441869 protein-coding ENSG00000235098 HGNC:42950 VALIDATED 7204990 ANKRD66 ankyrin repeat domain 66 6 6 6 p12.3 48267156 48279399 + 46714654 46726955 + 46746917 46759218 + 8889548 100287718 B4E2M5;H3BTF0 ABBA01050614;AK304342;AL161618;AL451143;AMYH02013688;BU608132;DC417416;NM_001162435 B4E2M5;BAG65187;NP_001155907 Hs.736491 ankyrin repeat domain-containing protein 66;hypothetical protein LOC100287718 protein-coding HGNC:44669 VALIDATED 1317569 ANKRD6 ankyrin repeat domain 6 INVOLVED IN negative regulation of canonical Wnt signaling pathway (inferred); positive regulation of Wnt signaling pathway, planar cell polarity pathway (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene; tert-butyl hydroperoxide; trichostatin A 6 6 6 q14.2-q16.1 90561418 90762379 + 90142897 90343553 + 89433178 89633834 + 6480464 10231032;12183362;12203740;12477932;14574404;14702039;17370265;17592114;18187620;19379695;19591803;20736409;21810271;22580979;23934736;8889548 22881 B7Z3D2;E5RH98;E5RIJ4;E5RIN9;E5RIS1;E5RJ05;E5RJ45;E5RJR9;H0YBG4;H0YBH4;H0YBW6;Q9Y2G4 AB023174;ABBA01040530;ABBA01040531;ABBA01040532;ABBA01040533;AK021550;AK022699;AK074189;AK092235;AK096867;AK295731;AK307792;AL096678;AL117504;AL136971;AL138717;AL159174;AMYH02014083;AMYH02014084;AMYH02014085;AMYH02014086;BC001078;BC042173;BM974140;CH471051;DC317010;DN999929;GU727626;NM_001242809;NM_001242811;NM_001242813;NM_001242814;NM_014942;XM_005248679;XM_005248680;XM_005248681;XM_005248682;XM_005248683;XM_005248684;XM_006715381;XM_006715382 AAH01078;AAH42173;ADU87628;BAA76801;BAG52502;BAG53385;BAH12168;CAB55968;EAW48550;EAW48551;EAW48552;EAW48553;NP_001229738;NP_001229740;NP_001229742;NP_001229743;NP_055757;Q9Y2G4;XP_005248736;XP_005248737;XP_005248738;XP_005248739;XP_005248740;XP_005248741;XP_006715444;XP_006715445 Hs.702213 1660803;1669043;1670718;1673271;1674763;1682395;1694544;1700988;1710704;1720013;1853622;2124222;2132657;2164580 A007K15;D6S1132E;D6S2078;D6S2196;G43165;RH104121;RH123984;RH46665;RH46749;RH46755;SHGC-79641;STS-AA025624;STS-N40186;WI-13908 FLJ12637;FLJ34916 OTTHUMP00000016855;OTTHUMP00000016856;OTTHUMP00000225479;OTTHUMP00000225480;OTTHUMP00000225481;ankyrin repeat domain-containing protein 6;diversin protein-coding ENSG00000135299 HGNC:17280 09798 610583 VALIDATED 1353885 ANKRD62P1-PARP4P3 ANKRD62P1-PARP4P3 readthrough, transcribed pseudogene 22 22 22 q11.1 756842 780228 - 17134598 17156430 - 16653708 16675540 - 10591208;16461635;18701435;20218899;20496165;20574454 23783 ABBA01001463;ABBA01001464;AMYH02037980;AMYH02037981;AP000365;DN918251;DV080440;NR_040115 Hs.627452 ADPRTL4;PARP4P3 APPROVED pseudo HGNC:42393 VALIDATED 5132170 ANKRD63 ankyrin repeat domain 63 15 15 15 q15.1 17339637 17340779 - 40573645 40574787 - 40281444 40282586 - 100131244 C9JTQ0 ABBA01038455;AC020658;AMYH02030235;BF940541;NM_001190479 C9JTQ0;NP_001177408 Hs.711376 ankyrin repeat domain-containing protein 63 protein-coding ENSG00000230778 HGNC:40027 PROVISIONAL 1316983 ANKRD9 ankyrin repeat domain 9 INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q32.31 83027430 83030360 - 102973179 102976128 - 102506842 102509791 - 6480464 12477932;12508121;15489334;18187620 122416 H0YM08;H0YNN1;Q96BM1 ABBA01048474;ABBA01048475;AK291868;AL136293;AMYH02029900;BC015422;BC027479;BX161460;CH471061;NM_152326;XM_005267310;XM_005267311 AAH15422;AAH27479;ABM82613;ABM85797;BAF84557;CAD61921;EAW81791;EAW81792;NP_689539;Q96BM1;XP_005267367;XP_005267368 Hs.432945 1671983;2117256;2135190;2138959;2156786;2175544;5019819 A003P27;A004S19;A009Y10;Bdab1d07;G27983;G32972;RH15690 MGC21990 OTTHUMP00000246829;ankyrin repeat domain-containing protein 9 protein-coding ENSG00000156381 HGNC:20096 12467 PROVISIONAL 1352130 ANKRD7 ankyrin repeat domain 7 INVOLVED IN male gonad development (inferred); FOUND IN nucleus (inferred); INTERACTS WITH fonofos; parathion; terbufos 7 7 7 q31 112674150 112692226 + 117864493 117882785 + 118224658 118242731 + 1580863;6480464 12477932;12853948;15342556;15489334;16169070;22613542;8812458;9847074 56311 C9J2M7;C9JIJ7;Q92527 AA435914;ABBA01057789;ABBA01057790;AC004029;AC006389;AC007874;AI126287;AI149744;AK302407;AMYH02016642;AMYH02016643;AMYH02016644;BC007020;BC032799;BP369869;CH236947;CH471070;D78334;DB442002;DB447815;NM_019644 AAB97503;AAF19231;AAH07020;AAH32799;BAA11348;BAG63717;EAW83538;EAW83539;NP_062618;Q92527 Hs.729340 2162142 AFMa073zb9 TSA806 OTTHUMP00000211148;OTTHUMP00000211149;OTTHUMP00000211150;ankyrin repeat domain-containing protein 7;testis-specific ankyrin motif containing protein;testis-specific protein TSA806 protein-coding ENSG00000106013 HGNC:18588 610731 VALIDATED 1602104 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 12 q23.1 98793966 100043704 - 99128569 100378512 - 98734791 99984735 - 6480464;8554872 10490826;12415113;12477932;12508107;12700034;12837293;15004329;15342556;15347684;15862129;16273093;16344560;16386788;16537434;16769578;17875921;19666031;19721433;19851462;19913121;20100865;20161521;20205790;20379614;20578947;20628086;20966902;21107309;21832049;22959728;23251661;23319000;23453885;23799029;24479813;24816145 56899 B1VKB5;B7Z9I9;F8VR14;F8VVQ4;H0YI72;H0YJZ1;J3QSU0;Q6V0K8;Q7Z6G8;R4GMN5;R4GMQ4;R4GMS8;R4GN07;R4GN70;R4GN73;R4GN78;R4GNJ0 ABBA01053268;ABBA01053269;ABBA01053270;ABBA01053271;ABBA01053272;ABBA01053273;ABBA01053274;ABBA01053275;ABBA01053276;ABBA01053277;ABBA01053278;ABBA01053279;ABBA01053280;ABBA01053281;AC008126;AC011248;AC021653;AC048330;AC069437;AC078916;AC079954;AC084374;AC117377;AC126616;AC141554;AC141555;AC141556;AF145204;AF164792;AK124453;AK289768;AK294191;AK294994;AK295988;AK315954;AM980945;AMYH02027041;AMYH02027042;AMYH02027043;AMYH02027044;AMYH02027045;AMYH02027046;AMYH02027047;AMYH02027048;AMYH02027049;AMYH02027050;AY281131;AY281132;AY283057;AY356353;AY620824;AY753193;BC026313;BC068451;BC091512;BC142669;BC150204;BG338019;BP193713;BQ614098;BU568171;D80328;DA183756;DA690060;DA783474;DB475766;KF455700;NG_029860;NM_001204065;NM_001204066;NM_001204067;NM_001204068;NM_001204069;NM_001204070;NM_001204079;NM_001204080;NM_001204081;NM_020140;NM_152788;NM_181670;XM_005269028;XM_005269029;XM_005269032;XM_006719504;XM_006719505;XM_006719506;XM_006719507;XM_006719508;XM_006719509;XM_006719510;XM_006719511;XM_006719512;XM_006719513;XM_006719514;XM_006719515 AAD33951;AAF80756;AAH26313;AAH68451;AAI42670;AAI50205;AAI60005;AAP37612;AAP37613;AAP38184;AAQ56189;AAT39519;AAV28691;BAF82457;BAG57507;BAG58059;BAG58763;BAH14325;CAQ37746;NP_001190994;NP_001190995;NP_001190996;NP_001190997;NP_001190998;NP_001190999;NP_001191008;NP_001191009;NP_001191010;NP_064525;NP_690001;NP_858056;Q7Z6G8;XP_005269085;XP_005269086;XP_005269089;XP_006719567;XP_006719568;XP_006719569;XP_006719570;XP_006719571;XP_006719572;XP_006719573;XP_006719574;XP_006719575;XP_006719576;XP_006719577;XP_006719578 Hs.506458 1337135;1338191;1339926;1341845;1649052;1651345;1652104;1665911;1704332;1714549;1722867;1732705;1736260;1739131;1761105;1774124;2106951;2125687;2125689;2128287;2129565;2144268;2157925;2175223;2187253;5092004;5095038;7183696 APAF1_7746;D12S1058;D12S1059;D12S1082;D12S1098;D12S1099;D12S1100;D12S1218E;D12S1355;D12S1600;D12S346;D12S58;D12S836;D5S1886;G17651;G60526;RH119788;RH46329;RH47349;RH47351;RH69665;SHGC-145114;SHGC-78121;SHGC-78132;STS-D51799;TKY831;WI-21542 AIDA;AIDA-1;ANKS2;EB-1;EB1;MGC26087;cajalin-2 E2a-Pbx1-associated protein;OTTHUMP00000243457;OTTHUMP00000243458;OTTHUMP00000243459;OTTHUMP00000243460;OTTHUMP00000243461;OTTHUMP00000243462;OTTHUMP00000243463;OTTHUMP00000243464;OTTHUMP00000243466;OTTHUMP00000243467;OTTHUMP00000243468;amyloid-beta precursor protein intracellular domain associated protein 1;amyloid-beta protein intracellular domain-associated protein 1;ankyrin repeat and sterile alpha motif domain-containing protein 1B;cajalin 2 APPROVED protein-coding ENSG00000185046 HGNC:24600 07426 607815 REVIEWED 1348688 ANKUB1 ankyrin repeat and ubiquitin domain containing 1 3 3 3 q25.1 147892237 147923960 - 149478887 149510610 - 149761100 149792823 - 12477932;14702039;8889548 389161 A6NFN9;B4E2N8;C9JND2;E9PHT4 ABBA01058939;AC069216;AK027233;AK098078;AK304359;AMYH02007886;BC171805;BU686654;NM_001144960 A6NFN9;BAG53578;BAG65200;NP_001138432 Hs.665988 1715549;2175886 D3S2401;RH120916 C3orf16;FLJ40759 OTTHUMP00000216004;ankyrin repeat and ubiquitin domain-containing 1;hypothetical protein LOC389161 APPROVED protein-coding ENSG00000206199 HGNC:29642 PROVISIONAL 1319381 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A ENCODES a protein that exhibits ephrin receptor binding (inferred); INVOLVED IN ephrin receptor signaling pathway (ortholog); neuron remodeling (ortholog); substrate-dependent cell migration (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; nucleus; neuron projection (ortholog); INTERACTS WITH 2-methylcholine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 6 6 6 p21.31 36411475 36613603 + 34857038 35085802 + 34889261 35091413 + 6480464;8554872 10958799;12439753;12477932;14574404;15302935;15324660;15345747;15489334;15500253;15778465;16273093;17353931;17452356;18029348;18391951;19913121;20100865;20379614;20546612;20628086;20659327;21378990;21529783;22291991;22332920;22863883;23144319;23239578;23251661;23563607;23740937;23824909;23825523;24255178;24262325;24816145;8889548;9039502 23294 Q05CP0;Q92625 ABBA01038214;ABBA01038215;ABBA01038216;ABBA01038217;ABBA01038218;AK025381;AK298987;AL033520;AL138721;AL591002;AMYH02013530;AMYH02013531;AMYH02013532;AMYH02013533;BC022396;BC031934;BC049213;BC132832;BC144341;BF592042;BQ216321;BU676295;BX094969;CH471081;D86982;EF491787;NM_015245;XM_005248964;XM_006715033;XM_006715034;XM_006715035;XM_006715036;XM_006715037;XM_006715038 AAH22396;AAH31934;AAI32833;BAA13218;BAG61080;EAX03800;EAX03801;EAX03802;EAX03803;EAX03804;NP_056060;Q92625;XP_005249021;XP_006715096;XP_006715097;XP_006715098;XP_006715099;XP_006715100;XP_006715101 Hs.656492 1644953;1651165;1680811;1724585;1774793;1858319;2118283;2166924;2181903;2183616;2191307 MARC_17239-17240:1023900206:1;RH121289;RH25435;RH36210;RH36455;RH40967;RH45580;SHGC-34024;STS-N22435;STS-R07970;WIAF-1586 ANKS1;KIAA0229;MGC42354;Odin OTTHUMP00000016243;ankyrin repeat and SAM domain containing 1;ankyrin repeat and SAM domain-containing protein 1A protein-coding ENSG00000064999 HGNC:20961 10610 608994 VALIDATED 1604545 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 INTERACTS WITH atrazine; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p13.3 4955291 4992944 - 4746500 4784378 - 4696510 4734377 - 6480464 11853319;12477932;14702039;16713569;16964243;17081983 124401 D3DUE4;K7EJS9;K7EJX3;K7EJY2;K7EKD2;K7ELP3;K7ELU8;K7EM53;K7EPL7;K7EPP4;K7EPY5;K7EQE0;K7ERF3;K7ERR7;K7ERY3;Q6ZW76;Q6ZWA7 AB075857;ABBA01026783;ABBA01026784;AC020663;AC023830;AI560632;AK056907;AK057329;AK123371;AK123496;AK301683;AMYH02031327;AMYH02031328;BC031350;BC032314;BC050387;BM545219;BX333650;CH471112;DR004376;NM_001242929;NM_133450;NR_040252;XM_005255119;XM_005255121;XM_006720845 AAH50387;BAB85563;BAC85597;BAC85629;BAG51903;BAG63156;EAW85269;EAW85270;EAW85271;EAW85272;EAW85273;EAW85274;EAW85275;NP_001229858;NP_597707;Q6ZW76;XP_005255176;XP_005255178;XP_006720908 Hs.654859 5037552 D8S2279 FLJ32345;FLJ32767;KIAA1977 OTTHUMP00000159853;ankyrin repeat and SAM domain-containing protein 3 protein-coding ENSG00000168096 HGNC:29422 13909 VALIDATED 6481331 ANO1-AS1 ANO1 antisense RNA 1 100873981 AP000879 APPROVED ncrna HGNC:40016 1319654 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 ENCODES a protein that exhibits protein homodimerization activity (inferred); ASSOCIATED WITH Aortic valve stenosis (inferred); Autosomal recessive inheritance (inferred); Cholestasis (inferred); FOUND IN cilium (inferred); cytoplasm (inferred); INTERACTS WITH all-trans-retinoic acid; copper atom; copper(0) 9 9 9 q22.33 72008186 72066777 - 101494291 101558794 - 98732009 98796512 - 6480464;8699517;7240710;8554872 12477932;14702039;15164053;15489334;18029348;18434273;18978678;20301743;21832049;23793029 203286 B3KXP1;H7C163;Q68DC2 ABBA01042909;ABBA01042910;ABBA01042911;AK074328;AK094247;AK126614;AK127702;AL353782;AL807776;AMYH02021326;BC012981;BC064367;CH471105;CR749467;CR749472;DQ309777;DQ309778;DQ309779;DQ309780;DQ309781;DQ309782;DQ309783;DQ309784;DQ309785;DQ309786;DQ309787;DQ309788;DQ309789;DQ309790;DQ309791;NM_173551;XM_005251793;XM_005251794;XM_006716998;XM_006716999;XR_242576;XR_428520 AAH64367;ABC48694;BAC04317;BAG54553;CAH18298;CAH18302;EAW58892;EAW58893;EAW58894;EAW58895;NP_775822;Q68DC2;XP_005251850;XP_005251851;XP_006717061;XP_006717062 Hs.406890 1664012;2114056;2127692;2162649 AB046634;D9S2093;RH15962;SHGC-4650 ANKRD14;DKFZp686D24121;DKFZp781I0117;MGC70366;NPHP16;PKDR1;SAMD6 OTTHUMP00000021780;OTTHUMP00000179114;SAM domain-containing protein 6;ankyrin repeat and SAM domain-containing protein 6;ankyrin repeat domain 14;ankyrin repeat domain-containing protein 14;samCystin;sterile alpha motif domain containing 6;sterile alpha motif domain-containing protein 6 protein-coding ENSG00000165138 HGNC:26724 18012 615370;615382 PROVISIONAL 1321890 ANO1 anoctamin 1, calcium activated chloride channel ENCODES a protein that exhibits calcium activated cation channel activity; intracellular calcium activated chloride channel activity; INVOLVED IN cation transmembrane transport; cation transport; chloride transport; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; plasma membrane; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; arsane 11 11 11 q13.3 67191110 67302276 + 69924408 70035651 + 69985875 70189545 + 737633;6480464;8554872 12477932 12739008;14702039;15067359;18648740;18724360;18772398;19011564;19015192;19199708;19372102;19606013;19654323;19687122;19773279;19819874;19823864;19913121;20628086;20716167;20716168;21041307;21084298;21092923;21295818;21349842;21350101;21358619;21585622;21645494;21756825;21906983;21940901;21965629;22178883;22197035;22335248;22351639;22399613;22415075;22460810;22495382;22526416;22564524;22571292;22685202;22699056;22912841;22946562;22946960;22973054;22988141;23034390;23038686;23104560;23218903;23431153;23570556;23576565;23576756;23722018;23862765;23866066;23994600;23997176;24080196;24167264;24243583;24379641;24401903;24478309;24509911;24599954;24692353;24825187 55107 E9PNA7;E9PP68;E9PS90;H0YDD9;Q5XXA6;Q9NW72 AB845669;ABBA01010299;ABBA01010300;AI694083;AK001123;AK097619;AK293088;AK303971;AL833582;AMYH02025045;AMYH02025046;AP000879;AP003555;AY728143;BC027590;BC033036;CF593428;CH471076;DB445158;DB450993;HQ418153;NM_018043;NR_030691;XM_006718593;XM_006718594;XM_006718595;XM_006718596;XM_006718597;XM_006718598;XM_006718599;XM_006718600;XM_006718601;XM_006718602;XM_006718603;XM_006718604;XM_006718605 AAH27590;AAH33036;AAU82085;ADP09411;BAA91513;BAC05123;BAF85777;BAH14087;BAO49755;EAW74757;EAW74758;EAW74759;NP_060513;Q5XXA6;XP_006718656;XP_006718657;XP_006718658;XP_006718659;XP_006718660;XP_006718661;XP_006718662;XP_006718663;XP_006718664;XP_006718665;XP_006718666;XP_006718667;XP_006718668 Hs.503074 1681572;2109975;2166265 RH48109;RH92087;TMEM16A_9873 DOG1;FLJ10261;ORAOV2;TAOS2;TMEM16A Ca2+-activated Cl- channel;OTTHUMP00000235453;OTTHUMP00000235456;OTTHUMP00000235457;anoctamin-1;discovered on gastrointestinal stromal tumors protein 1;oral cancer overexpressed 2;oral cancer overexpressed protein 2;transmembrane protein 16A (eight membrane-spanning domains);tumor amplified and overexpressed sequence 2;tumor-amplified and overexpressed sequence 2 protein-coding ENSG00000131620 HGNC:21625 18202 610108 VALIDATED 1606413 ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B INVOLVED IN response to endoplasmic reticulum stress (inferred); FOUND IN endoplasmic reticulum membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; quercetin 16 16 16 p12.2 20559328 20578058 + 21245016 21263750 + 21233695 21252429 + 6480464 12477932;12588794;14702039;15461667;21832049 257629 Q8N8V4 ABBA01028294;AF001550;AK096138;AMYH02031676;BC111784;BC112368;CH471228;NM_145865 AAI60087;BAC04707;EAW66861;NP_665872;Q8N8V4 Hs.115959 1738683;5015861;7185938 D10S16;D16S2797 FLJ38819;HARP;MGC133380;MGC133381 ankyrin repeat and SAM domain-containing protein 4B;harmonin-interacting ankyrin repeat-containing protein;harmonin-interacting ankyrin-repeat containing protein protein-coding HGNC:26795 08794 609901 VALIDATED 1602704 ANKZF1 ankyrin repeat and zinc finger domain containing 1 ENCODES a protein that exhibits metal ion binding (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cobalt dichloride; copper(2+) sulfate 2 2 2 q35 213864186 213871098 + 220094479 220101391 + 219229757 219236669 + 6480464 12477932;14702039;15489334;16169070;16344560;16964243;17081983;19946888;20211142;21832049;21896481;21900206;21914798;8125298 55139 B8ZZS4;C9J5H7;C9JQZ3;C9JS61;C9K022;F8WD44;Q9H8Y5 AA482007;ABBA01023845;ABBA01023846;AC068946;AF364318;AK001277;AK023206;AK056060;AK095304;AK098282;AK225275;AK225309;AK303077;AK303537;AMYH02005819;BC000238;BC008948;BC028334;CH471063;DA226194;DA899467;DQ412564;NM_001042410;NM_001282792;NM_018089;XM_005246663;XR_427096;XR_427097 AAH00238;AAH08948;ABD65410;BAA91596;BAB14462;BAG64193;BAG64563;EAW70708;EAW70709;EAW70710;NP_001035869;NP_001269721;NP_060559;Q9H8Y5;XP_005246720 Hs.437647 1655278;1663635;2142422;2183384;5015619;5016478;5022200;5037552 D11S3114;D2S1807;D8S2279;GDB:434012;L18426;RH12093;SHGC-32531;WI-15771 FLJ10415;FLJ13144;ZNF744 OTTHUMP00000205941;OTTHUMP00000205942;OTTHUMP00000205943;ankyrin repeat and zinc finger domain-containing protein 1;zinc finger protein 744 protein-coding ENSG00000163516 HGNC:25527 07673 VALIDATED 1605667 ANO10 anoctamin 10 The transmembrane protein encoded by this gene is a member of a family of calcium-activated chloride channels. Defects in this gene may be a cause of autosomal recessive spinocerebellar ataxia-10. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 3 3 3 p22.1 43345314 43601240 - 43407818 43663560 - 43366326 43622068 - 6480464;8699517;8554872;7240710 12477932;14702039;19015192;19946888;21890473;21906983;21963094;21987572;22008874;22527681;23251661;24275721;24692353 55129 C9IYD3;C9IZD0;C9J670;C9JA49;C9JH90;C9JJS5;C9JPY2;C9JQC9;H7C3N6;Q9NW15 AA252209;ABBA01024758;ABBA01024759;AC097638;AC104184;AC105903;AC135852;AK096302;AK131223;AK292368;AK295969;AK297949;AL832508;AMYH02006634;AMYH02006635;AMYH02006636;AMYH02006637;AMYH02006638;AMYH02006639;AMYH02006640;BC038855;CH471055;NG_028216;NM_001204831;NM_001204832;NM_001204833;NM_001204834;NM_018075;XM_005265265 AAI56279;AAI57062;BAF85057;BAG53253;BAG54755;BAG58745;BAG60264;EAW64695;EAW64696;EAW64697;EAW64698;NP_001191760;NP_001191761;NP_001191762;NP_001191763;NP_060545;Q9NW15;XP_005265322 Hs.656657 1336139;1342348;1661414;1707298;1712727;1716951;1739763;1759739;1777274;2147712 D3S3475E;D3S3647;D3S3678;HSC12B032;RH121060;RH121855;SHGC-150987;SHGC-76857;SHGC-79253;STS-R48504 FLJ10375;MGC47890;SCAR10;TMEM16K OTTHUMP00000164038;OTTHUMP00000164039;OTTHUMP00000209958;OTTHUMP00000209959;OTTHUMP00000209960;anoctamin-10;transmembrane protein 16K APPROVED protein-coding ENSG00000160746 HGNC:25519 07667 613726;613728 REVIEWED 1352763 ANO2 anoctamin 2, calcium activated chloride channel ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011] 12 12 12 p13.3 7292577 7675047 - 5671817 6055398 - 5562651 5946232 - 1580863;6480464;8554872 12739008;14702039;15067359;16344560;17371490;18029348;19015192;19165232;19474308;19561302;20379614;21697133;21906983;23251661;23382691;23570556;24692353;8889548 57101 F1T0L7;F5GXT3;F5H806;Q9NQ90 AB593159;ABBA01017624;ABBA01017625;ABBA01017626;ABBA01017627;AC006431;AC006560;AC137627;AJ272204;AK024010;AL137419;AMYH02025937;AMYH02025938;AMYH02025939;BE645295;BM710588;BQ025064;CH471116;DB071682;FJ384095;NG_033827;NM_001278596;NM_001278597;XM_006718988;XM_006718989;XM_006718990;XM_006718991 AAI52769;ACL36050;BAB14773;BAJ84091;CAC01125;CAH10704;EAW88819;EAW88820;EAW88821;NP_001265525;NP_001265526;Q9NQ90;XP_006719051;XP_006719052;XP_006719053;XP_006719054 Hs.148970 1335356;1335608;1656729;1672953;1705088;1705516;1707608;1711386;1722751;1736856;1736872;1777959;1782542;2123202;2131735;2140767;2176876;2179628;2218838;5014053;5107135;5109549 AFMb052yg5;D12S1262;D12S1265;D12S1673;D12S374;D1S3693;D21S1698;G41269;G41792;G42175;G60314;G65694;RH47566;RH66488;SHGC-10475;SHGC-10476;SHGC-106968;SHGC-31150;SHGC-78069;SHGC-83855;SHGC-84619;TMEM16B__5279 C12orf3;DKFZp434P102;TMEM16B OTTHUMP00000238430;anoctamin-2;transmembrane protein 16B (eight membrane-spanning domains) APPROVED protein-coding ENSG00000047617 HGNC:1183 11634 610109 VALIDATED 1320339 ANLN anillin, actin binding protein This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] 7 7 7 p15-p14 36413989 36477971 + 36429415 36493400 + 36389806 36453791 + 1580863;6480464;8554872 10931866;12477932;12479805;12637748;14702039;15302935;15489334;15496454;15616196;15635413;15800069;16040610;16129829;16203764;16357138;16964243;17081983;17643375;18158243;19531213;19596686;19995712;20360068;21109967;21139048;21849473;22412018;22423143;22514687;22939629;23547718;23708000;23717429;24088567;24250222;24676636;24809965;24816145;25223638 54443 A8K5D9;C9J0G4;C9JJT6;H7C0Y6;H7C167;H7C1C2;H7C1K5;H7C3R2;H7C3S1;Q9NQW6 ABBA01056905;AC006960;AF273437;AK001468;AK001472;AK023208;AK094574;AK291254;AK299803;AMYH02015527;AMYH02015528;AMYH02015529;BC034692;BC070066;BE885510;BQ434804;BU630923;CH236951;CH471073;CR936650;CS401486;NM_001284301;NM_001284302;NM_018685;XM_006715746;XM_006715747 AAF75796;AAH34692;AAH70066;BAA91710;BAA91711;BAB14463;BAF83943;BAG61678;CAI56788;CAL40337;EAW94067;EAW94068;EAW94069;EAW94070;EAW94071;EAW94072;NP_001271230;NP_001271231;NP_061155;Q9NQW6;XP_006715809;XP_006715810 Hs.62180 1657004;1675931;1688887;1707808;1775133;2167894;2186918;5022681 ANLN;GDB:1317748;GDB:1318228;RH80333;RH91404;SHGC-36429;SHGC-82130;WI-15514 DKFZp779A055;FSFS8;FSGS8;Scraps;scra OTTHUMP00000126965;OTTHUMP00000206987;actin-binding protein anillin protein-coding ENSG00000011426 HGNC:14082 09799 616027;616032 REVIEWED 3436177 ANO1-AS2 ANO1 antisense RNA 2 (head to head) 11 11 11 q13.3 67185224 67188225 - 69918540 69921701 - 70072434 70075348 - 100009613 ABBA01010299;AMYH02025045;AP003555;AW592641;EF419887;HG503934;HG503935;HY053628;NR_103835 Hs.131238;Hs.743025 C11orf78;NCRNA00224;RP11-626H12.4 APPROVED ncrna HGNC:33275 VALIDATED 1342534 ANO5 anoctamin 5 This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] 11 11 11 p14.3 22346769 22437966 + 22214199 22304913 + 22192667 22283367 + 6480464;7240710;8554872;8699517 14702039;15067359;15124103;15457408;17008331;19015192;20096397;20301582;20692837;21186264;21906983;22336395;22402862;22499103;22742934;22980764;23041008;23047743;23055322;23193613;23453885;23606453;23607914;23663589;23670307;23843187;24232312;24639367;24692353;8889548 203859 Q75V66 AB125267;ABBA01061015;AC104009;AC107886;AK092680;AK125046;AL832374;AL833271;AMYH02024429;BU742779;CH471064;N89918;NG_015844;NM_001142649;NM_213599;XM_005252820;XM_005252821;XM_005252822;XM_005252823 AAI56326;AAI72489;BAD17859;EAW68325;NP_001136121;NP_998764;Q75V66;XP_005252877;XP_005252878;XP_005252879;XP_005252880 Hs.154329 1676314;1697114;1749229;1856446;2143812 D11S1120;RH102041;RH66694;RH91889;SHGC-110910 GDD1;LGMD2L;TMEM16E OTTHUMP00000231795;anoctamin-5;gnathodiaphyseal dysplasia 1 protein;integral membrane protein GDD1;limb girdle muscular dystrophy 2L (autosomal recessive);transmembrane protein 16E APPROVED protein-coding ENSG00000171714 HGNC:27337 10558 166260;608662;611307;613319 REVIEWED 1318896 ANO3 anoctamin 3 ENCODES a protein that exhibits phospholipid scramblase activity (inferred); INVOLVED IN calcium activated galactosylceramide scrambling (inferred); calcium activated phosphatidylcholine scrambling (inferred); ion transmembrane transport (inferred); ASSOCIATED WITH Autosomal dominant inheritance (inferred); Blepharospasm (inferred); DYSTONIA 24 (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; daunorubicin 11 11 11 p14.2 26498680 26830111 + 26210458 26684836 + 26332131 26663289 + 1580863;6480464;8699517;7240710;8554872 12739008;15067359;16344560;19015192;19553259;20379614;22657408;23200863;24094724;24151159;24692353 63982 B7Z3F5;E9PKW2;E9PQ79;Q9BYT9 ABBA01060980;ABBA01060981;ABBA01060982;AC021698;AC036114;AC079064;AC083755;AJ300461;AK295143;AK295658;AK295816;AK302659;AK304781;AK316018;AMYH02024490;AMYH02024491;AMYH02024492;AMYH02024493;AMYH02024494;AMYH02024495;AMYH02024496;AMYH02024497;BQ430769;CH471064;DA247850;NM_031418;X81896 AAI72396;BAH11989;BAH12144;BAH12191;BAH13772;BAH14255;BAH14389;CAC32454;EAW68296;NP_113606;Q9BYT9 Hs.91791 1340365;1660766;1668872;1697210;1701100;1720019;1721669;1721747;1732169;1737125;1755633;1769744;1772162;1772958;2113970;2127562;2133135;2141072;2142451;2166356;2167132;2171297;2178114;2218840;7186472 A004R23;AB048919;D11S1568;D11S2279E;D11S2364;D11S2373;D11S2949;D11S3990;D11S4348;D11S904;G02339;G30236;G59741;G59845;RH102097;RH104178;RH123987;RH16157;RH16467;RH35938;RH78143;SGC34286;SHGC-142486;TMEM16C__5280 C11orf25;DYT23;DYT24;GENX-3947;TMEM16C OTTHUMP00000231884;OTTHUMP00000231886;OTTHUMP00000232233;anoctamin-3;transmembrane protein 16C (eight membrane-spanning domains) protein-coding ENSG00000134343 HGNC:14004 15526 610110;615034 VALIDATED 1321043 ANO4 anoctamin 4 ENCODES a protein that exhibits intracellular calcium activated chloride channel activity; INVOLVED IN chloride transmembrane transport; chloride transport; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN plasma membrane; intracellular (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenite(3-); benzo[a]pyrene diol epoxide I 12 12 12 q23.1 100853681 101187742 + 101133841 101522419 + 100794596 101128641 + 6480464;8554872 12477932;12739008;14702039;15067359;16344560;19015192;23535033;24692353 121601 B7Z9Z0;F8VUH1;F8VW62;Q32M45 ABBA01053247;ABBA01053248;ABBA01053249;AC063947;AC079953;AC125628;AC127893;AC138360;AC225709;AI140598;AK091540;AK091591;AK092596;AK293810;AK302962;AK316105;AMYH02027061;AMYH02027062;AMYH02027063;AMYH02027064;AMYH02027065;BC109308;CH471054;DA213819;DA811418;DC325277;KF570266;NM_001286615;NM_001286616;NM_178826;XM_006719240 AAI09309;BAC03688;BAC03704;BAC03924;BAH11602;BAH13859;BAH14476;EAW97645;EAW97646;EAW97647;NP_001273544;NP_001273545;NP_849148;Q32M45;XP_006719303 Hs.58785 1338184;1682455;1752941;1768399;1773288;1779564;1853232;2115749;2159218;2174969;2179929;5017493 D12S1041;D12S1083;D12S1101;D12S1835;G17618;RH99125;SHGC-106784;SHGC-153536;SHGC-33403;SHGC-64282;TKY933;WI-15132 FLJ34221;FLJ34272;FLJ35277;MGC130026;TMEM16D OTTHUMP00000243883;OTTHUMP00000243884;anoctamin-4;transmembrane protein 16D protein-coding ENSG00000151572 HGNC:23837 15527 610111 VALIDATED 1602957 ANO7P1 anoctamin 7 pseudogene 1 1 1 1 p36.13 15022766 15034829 - 16551343 16553528 - 16218417 16227033 - 101927546 AL109627;AMYH02000379;HY036626;XM_006711098;XM_006726335 XP_006711161;XP_006726398 Hs.742924 1855472;1855474;2112364 D1S3633;SHGC-74265;WI-14689 ANO7L1;C1orf224;FLJ33962;TMEM16M anoctamin 7-like 1;anoctamin-4-like;chromosome 1 open reading frame 224;transmembrane protein 16M APPROVED protein-coding HGNC:32248 MODEL 1312398 ANO6 anoctamin 6 This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 12 12 12 q12 44413462 44637876 + 45609770 45834187 + 45215987 45440404 + 6480464;7240710;8699517;8554872 12477932;14702039;15067359;15489334;19015192;19056867;19322201;19581412;19946888;20379614;21107324;21139048;21511967;21890473;21906983;21963094;22138694;22256604;23000965;23308121;23426967;23618909;24478309;24692353;24816145;7566098 196527 B3KX12;F8VX71;Q4KMQ2 AA332109;ABBA01031441;AC009248;AC009778;AC063924;AK095979;AK126409;AK302819;AK303996;AK310641;AL832340;AL833405;AMYH02026398;AMYH02026399;AMYH02026400;AMYH02026401;BC042383;BC063576;BC073891;BC098410;BC136445;NG_028220;NM_001025356;NM_001142678;NM_001142679;NM_001204803;XM_005268706;XM_005268707;XM_006719271 AAH98410;AAI36446;BAG54324;BAG64017;BAG64913;CAD38638;NP_001020527;NP_001136150;NP_001136151;NP_001191732;Q4KMQ2;XP_005268763;XP_005268764;XP_006719334 Hs.505339 1662702;1669180;1698346;1701350;1717841;1736190;1746765;1760085;1764465;1851414;5022200;5022578 D12S1135E;D12S1320;D1S1423;G64798;L18426;RH102714;RH104305;RH121832;SHGC-107762;SHGC-148070;SHGC-33633;STS-N36984 BDPLT7;MGC104751;SCTS;TMEM16F OTTHUMP00000241548;OTTHUMP00000241549;OTTHUMP00000241551;OTTHUMP00000241552;SCAN channel;anoctamin-6;small-conductance calcium-activated nonselective cation channel;transmembrane protein 16F APPROVED protein-coding ENSG00000177119 HGNC:25240 18746 262890;608663 REVIEWED 1342993 ANOP1 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) ASSOCIATED WITH Microphthalmia, Syndromic 4 (inferred) 7240710 1679229 289 HGNC:498 301590 1351029 ANO7 anoctamin 7 This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011] 2 2 2 q37.3 235798107 235834087 + 242127924 242164791 + 241188509 241225376 + 1303974;6480464 14981236 10613842;12477932;14702039;15375614;15761874;18676855;19015192;19495750;23535732;23955683;24692353 50636 H7C220;Q6IWH7 ABBA01006040;ABBA01006041;ABBA01006042;ABBA01006043;AC005237;AC104841;AC111201;AK057322;AMYH02006110;AMYH02006111;AY617079;AY617080;BC028162;BC038852;BC047903;CD672346;KF456776;NG_029845;NM_001001666;NM_001001891;XM_006712558 AAH28162;AAI56325;AAI57070;AAT40139;AAT40140;NP_001001666;NP_001001891;Q6IWH7;XP_006712621 Hs.163909 1776448;1852973;2137759;2150981 G42012;G42022;RH68737;SHGC-35108 D-TMPP;DTMPP;IPCA-5;IPCA5;NGEP;PCANAP5;PCANAP5L;TMEM16G Dresden-transmembrane protein of the prostate;OTTHUMP00000200376;OTTHUMP00000200377;OTTHUMP00000200379;anoctamin-7;dresden transmembrane protein of the prostate;new gene expressed in prostate;prostate cancer associated protein 5;prostate cancer-associated gene 5;prostate cancer-associated protein 5;transmembrane protein 16G APPROVED protein-coding ENSG00000146205 HGNC:31677 16090 605096 REVIEWED 1345920 ANO9 anoctamin 9 ENCODES a protein that exhibits intracellular calcium activated chloride channel activity; INVOLVED IN chloride transmembrane transport; chloride transport; negative regulation of intracellular calcium activated chloride channel activity; FOUND IN plasma membrane; INTERACTS WITH acetylsalicylic acid; mono(2-ethylhexyl) phthalate (ortholog); progesterone (ortholog) 11 11 11 p15.5 476822 501215 - 417930 442011 - 417930 442011 - 6480464 12477932;14702039;15202010;16344560;19015192;20379614;22223854;24692353;9305847 338440 A1A5B4 ABBA01015182;ABBA01015183;ABBA01015184;AC138230;AI986229;AK026923;AK074088;AK096874;AK303642;AK316479;AL832289;AMYH02024139;AMYH02024140;BC047946;BC128557;BC144415;CH471158;CQ834410;CQ834594;DB140066;KC877377;NM_001012302;U33271;XM_005252886;XM_006718219;XM_006718220;XR_242799;XR_428842;XR_428843;XR_428844 A1A5B4;AAI28558;BAB84914;BAG53386;BAG64646;BAH14850;CAH05420;CAH05512;EAX02326;NP_001012302;XP_005252943;XP_006718282;XP_006718283 Hs.501622 PIG5;TMEM16J;TP53I5 OTTHUMP00000229781;anoctamin-9;p53-induced gene 5 protein;transmembrane protein 16J;tumor protein p53 inducible protein 5;tumor protein p53-inducible protein 5 protein-coding ENSG00000185101 HGNC:20679 18214 VALIDATED 1349559 ANO8 anoctamin 8 INVOLVED IN chloride transmembrane transport; chloride transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; INTERACTS WITH cytarabine 19 19 19 p13.11 17335762 17347370 - 17434032 17445638 - 17323223 17334829 - 6480464;8554872 10997877;12477932;15647853;16169070;19015192;24390342;24692353 57719 M0QYD2;Q9HCE9 AB046843;ABBA01051192;AC010463;AI860149;AMYH02035702;BC037307;CH471106;NM_020959 BAB13449;EAW84595;EAW84596;NP_066010;Q9HCE9 Hs.590990 1673784;1689245 RH93609;STS-W45157 KIAA1623;TMEM16H anoctamin-8;transmembrane protein 16H protein-coding ENSG00000074855 HGNC:29329 17223 610216 VALIDATED 5490864 ANP32AP1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 INTERACTS WITH cyclosporin A 15 15 15 q14 12288802 12289539 + 35529527 35530264 + 35237326 35238063 + 6480464 21906983 723972 Q1AHP8 ABBA01038506;AC107992;AMYH02030189;DQ083510;NR_003144 AAZ31261 Hs.631698 1684419;1688130 RH46906;RH70903 pseudo ENSG00000259516 HGNC:42949 PROVISIONAL 2947095 ANP32BP1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1 15 15 15 q24.2 52540558 52541291 - 75614117 75614850 - 75321776 75322509 - 646791 ABBA01060520;AC068338;AMYH02030813;NG_022900 1794340 PMC311040P1 pseudo HGNC:24267 INFERRED 1343834 ANP32A-IT1 ANP32A intronic transcript 1 (non-protein coding) INTERACTS WITH copper(2+) sulfate; valproic acid 15 15 15 q23 45985330 45988610 - 69096160 69099440 - 68803821 68807101 - 6480464 12477932;14702039 80035 ABBA01038773;AC087639;AK021784;AMYH02030692;BC132845;BC136847;CH471082;NR_026808 EAW77826 Hs.662150 5037552 D8S2279 C15orf28;FLJ11722;HsT18971;MGC168461;NCRNA00321 APPROVED ncrna HGNC:25672 VALIDATED 6484654 ANP32BP3 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 3 15 15 81409595 81410681 - 81117254 81118340 - 100652899 ABBA01060635;AC068870;AMYH02030893;NG_032808 pseudo HGNC:44089 INFERRED 731659 ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B ENCODES a protein that exhibits histone binding; RNA polymerase binding; INVOLVED IN activation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of cell differentiation; nucleosome assembly; FOUND IN cytoplasm; extracellular vesicular exosome; nucleolus; INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; busulfan 9 9 9 q22.32 71259753 71292490 + 100745479 100780860 + 97983207 98015943 + 1580863;6480464 11018049;11729309;12477932;12522243;15164053;15489334;15895553;16094384;16212417;17081983;17178712;17643375;18039846;19130553;19322201;19471022;19738201;20015864;20195357;20538007;21139048;21209461;21415862;21693764;21800051;21832049;21890473;21988832;22113938;22174317;22623428;22705300;22863883;23000965;23463506;23667531;8125298;9285060;9473664 10541 Q5T6W8;Q92688 ABBA01042921;ABBA01042922;ABBA01042923;AK223454;AK313733;AL354726;AMYH02021314;AMYH02021315;AW296974;BC013003;BC019658;BP395780;CH471105;NM_006401;U70439;Y07569;Y07570;Y07969 AAB37579;AAH13003;AAH19658;BAD97174;BAG36474;CAA68855;CAA68856;CAA69265;EAW58864;EAW58865;NP_006392;Q92688 Hs.730654 1794340;2151570;2218994 ANP32B__4313;PMC311040P1;RH70770 PHAPI2;SSP29 APRIL;OTTHUMP00000021759;OTTHUMP00000021760;acidic leucine-rich nuclear phosphoprotein 32 family member B;acidic protein rich in leucines;putative HLA-DR-associated protein I-2;silver-stainable protein SSP29 protein-coding ENSG00000136938 HGNC:16677 09803 VALIDATED 1352374 ANTP2 adenine nucleotide translocator pseudogene 2 (clone 7) 2157297 295 HGNC:508 1317675 ANP32C acidic (leucine-rich) nuclear phosphoprotein 32 family, member C Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is divergent between PP32 and the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008] 4 4 4 q32.3 162450710 162451414 - 165118159 165118863 - 164197007 164197711 - 6480464;8554872 10086381;10400610;10471270;11360199;11678310;12524539;15146458;15895553;22174317;23403278;24398589 23520 O43423 ABBA01070279;AC079240;AC105250;AF008216;AMYH02010424;CH471056;NM_012403 AAD12746;AAI72312;AAY40978;EAX04832;NP_036535;O43423 Hs.661161 PP32R1 acidic leucine-rich nuclear phosphoprotein 32 family member C;phosphoprotein 32-related protein 1;pp32 related 1;tumorigenic protein pp32r1 APPROVED protein-coding HGNC:16675 06045 606877 REVIEWED 2947013 ANP32BP2 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 2 22 22 22 q13.31 28959635 28960342 + 45047715 45048422 + 44651835 44652542 + 100130708 ABBA01017860;AMYH02038494;NG_022880;Z98743 1711792;2152101 AL008644;G49421 pseudo HGNC:38552 INFERRED 737099 ANPEP alanyl (membrane) aminopeptidase Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008] 15 15 15 q25-q26 66730914 66760859 - 90328126 90358119 - 89784895 89814879 - 1580863;1581742;1300048;1300284;6480464;6907045;8554872 1350662;15638741 10605003;10676659;10734069;11140838;11384645;11559807;11774469;11999577;12406907;12443882;12473585;12477932;12551991;12634402;12675232;14507917;14767532;15084671;15166647;15234325;15280478;15308636;15326289;15489334;15758076;15812828;15840518;15883031;15916720;16216591;16335952;16466852;16469741;16502470;16533817;16572171;16685268;1675638;16778789;16818694;1705556;17192395;17329256;17363734;17363739;17636545;17655775;17662271;17888402;17897319;17897790;17953966;17999179;18008160;18085638;18366676;18431797;18495788;18605079;18677709;18794057;19236378;19330903;19373777;19562339;19597336;1977688;19908113;20064928;20360068;20379614;20689807;21048031;21376765;21611838;21879266;21881118;22040956;22065384;22079983;22307972;22544935;22932899;23206754;23322201;23488598;23500679;23643324;23677132;24063007;2428842;24627994;2564851;2901990;2903074;6149934;7576235;7902291;8102610;8105105;8887485;9056417;9367365;9634079 290 H0YKT6;H0YLZ8;H0YM04;H0YMC1;P15144;Q59E93 AB209918;ABBA01053024;ABBA01053025;ABBA01053026;AC018988;AC079075;AF527789;AJ426050;AJ426067;AJ427985;AK298134;AK298242;AK298339;AK300946;AMYH02031027;AMYH02031028;BC058928;BQ879097;CH471101;JC231878;KF510413;M22324;M55522;NM_001150;X13276;XM_005254892 AAA51719;AAA83399;AAH58928;AAQ09003;BAD93155;BAG60413;BAG60508;BAG60587;BAG62575;CAA31640;CAD19802;CAD19822;CAD20931;CDM22281;EAX02067;EAX02068;NP_001141;P15144;XP_005254949 Hs.1239 1775628;1795360;2125204;2127680;2183227;2189373 ANPEP_1718;D15S1186;D15S1289;D2S2822;MARC_3220-3221:991936916:1;STS-F04048 AP-M;AP-N;APN;CD13;GP150;LAP1;P150;PEPN;hAPN OTTHUMP00000194690;alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150);alanyl aminopeptidase;aminopeptidase M;aminopeptidase N;microsomal aminopeptidase;myeloid plasma membrane glycoprotein CD13 APPROVED protein-coding ENSG00000166825 HGNC:500 01055 151530 REVIEWED 1606331 ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN nucleocytoplasmic transport; FOUND IN cytoplasm; endoplasmic reticulum; nucleus; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 15 15 15 q23 45960069 46002437 - 69070874 69113261 - 68778535 68820922 - 6480464 10086381;10400610;11018049;11163245;11360199;11555662;11729309;11830591;11909973;12477932;12522243;12524539;12565890;12807913;15100215;15136563;15247276;15308690;15489334;15642345;15895553;16009334;16169070;16341127;16344560;1655467;16713569;17142970;17266954;17557114;17643375;17962813;18410380;18439902;19121999;19565487;19805454;19913121;20558741;20628086;20683644;21139048;21152064;21209461;21317927;21325029;21642993;21693764;21890473;21906983;21963094;21988832;22174317;22863883;23000965;23667531;23839903;24816145;8125298;8192856;8530098;8619474;8679524;8970164;9110174;9144194;9353121 8125 H0YN26;H7BZ09;P39687 ABBA01038772;ABBA01038773;ABBA01038774;AC087639;AC090734;AF025684;AK127498;AK223280;AK312703;AMYH02030692;AW383928;AY007110;AY349171;BC000608;BC007200;BC064969;BC106719;BC125143;BT007436;CH471082;DA825897;KF456083;NM_006305;U60823;U73477;X75090;XM_006720707 AAB39706;AAB91548;AAC50570;AAH00608;AAH07200;AAI06720;AAI25144;AAP36104;AAQ79832;ABM84220;ABM87728;BAD97000;BAG35581;CAA52981;EAW77824;EAW77825;NP_006296;P39687;XP_006720770 Hs.458747 1684419;1688130;2114455;2144213;2148022;2178054;2220348;5021894;5492885 D15S1181;D15S1277;D9S2077;RH46906;RH70903;SGC30863;UniSTS:480453;UniSTS:483159;ha2356 C15orf1;HPPCn;I1PP2A;LANP;MAPM;MGC119787;MGC150373;PHAP1;PP32 OTTHUMP00000205820;PHAPI;acidic leucine-rich nuclear phosphoprotein 32 family member A;acidic nuclear phosphoprotein pp32;cerebellar leucine rich acidic nuclear protein;hepatopoietin Cn;inhibitor-1 of protein phosphatase-2A;leucine-rich acidic nuclear protein;mapmodulin;potent heat-stable protein phosphatase 2A inhibitor I1PP2A;putative HLA-DR-associated protein I;putative human HLA class II associated protein I protein-coding ENSG00000140350 HGNC:13233 09014 600832 VALIDATED 1343739 ANTP3 adenine nucleotide translocator pseudogene 3 (clone 13) 2157297 296 HGNC:509 1351063 ANP32D acidic (leucine-rich) nuclear phosphoprotein 32 family, member D Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47662478 47662873 + 48866448 48866843 + 48472665 48473060 + 6480464 10086381;10400610;10471270;11360199;11678310;12477932;15489334;15895553;21890473;22219177 23519 O95626 ABBA01031481;AC089987;AMYH02026422;BC069122;CH471111;NM_012404;U71084 AAD13667;AAH69122;EAW57983;NP_036536;O95626 Hs.532658 1688342;2220348 RH80847;UniSTS:480453 PP32R2 OTTHUMP00000222520;acidic leucine-rich nuclear phosphoprotein 32 family member D;acidic nuclear phosphoprotein 32D;phosphoprotein 32-related protein 2;pp32 related 2;tumorigenic protein pp32r2 APPROVED protein-coding HGNC:16676 06046 606878 REVIEWED 1348379 ANTP4 adenine nucleotide translocator pseudogene 4 (clone 9) 2157297 297 HGNC:510 1321615 ANP32E acidic (leucine-rich) nuclear phosphoprotein 32 family, member E ENCODES a protein that exhibits histone binding; phosphatase inhibitor activity (ortholog); INVOLVED IN histone exchange; negative regulation of catalytic activity (ortholog); FOUND IN nucleus; Swr1 complex; cytoplasmic membrane-bounded vesicle (ortholog); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 3,4-dichloroaniline 1 1 1 q21.2 123306449 123324235 - 150190717 150208504 - 150218417 150236156 - 1580863;6480464 11076863;11230166;11256614;12438741;12477932;14702039;15489334;15489336;15635413;15895553;16226712;16344560;16381901;16712791;17643375;18685789;19471022;19836239;20195357;21139048;21693764;21800051;21890473;21906983;21963094;21987572;22053931;22174317;22505724;22863883;22939629;22944692;23000965;23667531;24463511;24816145;8125298;8889548 81611 B4E0D5;E9PI45;E9PLC4;E9PPH5;H0YCE2;Q5TB19;Q5TB25;Q9BTT0 ABBA01049326;ABBA01049327;AC242988;AK025624;AK092672;AK095228;AK223469;AK303333;AK303392;AL138795;AL832664;AL832674;AL833660;AY057381;BC003380;BM974388;CB123292;CH471121;DA379137;NM_001136478;NM_001136479;NM_001280559;NM_001280560;NM_030920;XM_005245513;XM_005245514;XR_426799;XR_426800 AAH03380;AAL25814;BAC03942;BAC04505;BAD97189;BAG64397;BAG64448;CAI22806;CAI22807;CAI22808;CAI22809;CAL37954;EAW53575;EAW53576;EAW53577;EAW53578;EAW53579;NP_001129950;NP_001129951;NP_001267488;NP_001267489;NP_112182;Q9BTT0;XP_005245570;XP_005245571 Hs.656466 1686218;1697178;2179397;2218222 AL009464;ANP32E__4315;RH102078;RH93887 LANP-L;LANPL;MGC5350 LANP-like protein;OTTHUMP00000014533;OTTHUMP00000014534;OTTHUMP00000037718;OTTHUMP00000231932;acidic leucine-rich nuclear phosphoprotein 32 family member E;leucine-rich acidic nuclear protein like protein-coding ENSG00000143401 HGNC:16673 16493 609611 VALIDATED 7206882 ANTXRLP1 anthrax toxin receptor-like pseudogene 1 10 10 q11.22 47590261 47640844 - 46219025 46269608 - 10737800 100996567 ABBA01033529;AL450388;AMYH02022869;BE775052;BX091290;BX280825;HY015468;HY092480;NR_103827;NR_103828 Hs.546758 pseudo HGNC:45004 VALIDATED 1346318 ANTXR2 anthrax toxin receptor 2 This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 4 4 4 q21.21 78122440 78287976 - 80822771 80994626 - 79901617 80073472 - 1599125;1599126;1580863;6480464;7240710;8554872;8699517 14508707;17054395 11683410;12477932;12551953;12700348;12973667;14702039;15044490;15079089;15231748;15243628;15326297;15337774;15489334;15725249;16344560;16401723;16473908;16564009;17183731;19191226;19240061;19858192;20062062;20080640;20301698;20331448;20652271;21041274;21139048;21328543;21743469;21890473;21906983;22118297;22315420;22383261;22855243;23000965;24380801;24639526;24641616;24667935;24739539;24742682;9847074 118429 A4FUA5;J3KPY9;P58335;Q32Q26 AB209913;ABBA01063399;ABBA01063400;AC097711;AC109518;AC114773;AK023450;AK055636;AL110207;AL831848;AL832851;AMYH02009556;AMYH02009557;AMYH02009558;AMYH02009559;AMYH02009560;AMYH02009561;AMYH02009562;AMYH02009563;AMYH02009564;AY040326;AY233452;BC034001;BC042596;BC047345;BC107876;BC114374;BG235895;BM989747;BQ432519;CH471057;DA194583;DA989889;DB280658;DB283536;NG_015987;NM_001145794;NM_001286780;NM_001286781;NM_058172 AAH34001;AAI07877;AAI14375;AAK77222;AAP04016;AAY40907;BAB70976;BAD93150;CAI46157;EAX05848;EAX05849;EAX05850;NP_001139266;NP_001273709;NP_001273710;NP_477520;P58335 Hs.162963 1642896;1652146;1662841;1670802;1770846;1775760;1851420;1852217;1857418;2149646;2153751;2163978;2167035;2173560;2176941;5092790;5111272 A006E32;AFM358tf9;D4S2435;D4S3243;D4S3348;G16717;G32331;G34526;NIB450;RH17514;SHGC-25128;SHGC-25175;SHGC-59243;SHGC-59835;SHGC-60119;SHGC-8625;WI-8895 CMG-2;CMG2;FLJ31074;HFS;ISH;JHF;MGC111533;MGC45856 OTTHUMP00000200884;OTTHUMP00000200885;OTTHUMP00000200886;OTTHUMP00000200887;capillary morphogenesis gene 2 protein;capillary morphogenesis protein 2 APPROVED protein-coding ENSG00000163297 HGNC:21732 07452 228600;608041 REVIEWED 1316162 ANTXR1 anthrax toxin receptor 1 This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008] 2 2 2 p13.1 69091094 69326525 + 69240276 69476459 + 69013144 69249327 + 6480464;7240710;8699517;8554872 10545197;10947988;11559528;11574549;11700562;11709713;12477932;12700348;14507921;14702039;14755251;14759258;15489334;15689409;15777794;15993844;16141341;16401723;16564009;16762926;17081983;17207965;19322201;19440709;19581412;19817382;19834535;20221438;20360068;20585457;21079738;21129411;21139048;21206026;21573768;21829615;21890473;21906983;21963094;21965755;21987572;21998595;22085271;22303962;22340594;22912819;23000965;23602711;23607659;23832666;24060446;24742682;8125298;8889548 84168 H0YC24;Q53FL1;Q96EC6;Q9H6X2 ABBA01075491;ABBA01075492;ABBA01075493;ABBA01075494;ABBA01075495;AC112230;AC114802;AF090095;AF279145;AF421380;AK001463;AK002160;AK025429;AK126783;AK223273;AK292113;AK309553;AMYH02004016;AMYH02004017;BC012074;BC012475;BU687536;CF126791;CH471053;CS430823;DC360415;DC361072;JX424838;JX424839;NG_012649;NM_018153;NM_032208;NM_053034 AAH12074;AAH12475;AAK52094;AAL26496;AAX88860;AAY24067;ACE87019;ACE87706;ADQ31687;AFQ94038;AFQ94039;BAA91707;BAB15128;BAD96993;BAF84802;CAL60148;EAW99855;EAW99856;EAW99857;EAW99858;NP_060623;NP_115584;NP_444262;Q9H6X2 Hs.165859 1644440;1645693;1660068;1661118;1673344;1673997;1683511;1716939;1720033;1734968;1753949;1755673;1846725;1848977;2164447;2185111 A004S16;D2S1716E;G29341;RH121849;RH123811;RH46382;RH48247;RH69248;RH69279;RH91771;SHGC-142518;SHGC-35027;SHGC-57423;SHGC-89350;WI-16379;WI-18140 ATR;FLJ10601;FLJ11298;FLJ21776;GAPO;TEM8 2310008J16Rik;2810405N18Rik;OTTHUMP00000159975;OTTHUMP00000202140;OTTHUMP00000202171;tumor endothelial marker 8 APPROVED protein-coding ENSG00000169604 HGNC:21014 05913 230740;602089;606410 REVIEWED 1318989 ANXA10 annexin A10 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 4 4 4 q33 166343539 166438757 + 169013688 169108893 + 168081299 168187742 + 1580863;6480464;8554872 10458909;12000734;12477932;15489334;16341674;16712791;18029348;19582876;20664964;21175800;21906983;21979422;23029062;23073794;23715859;23824909;24024557;24625416;25027693 11199 Q9UJ72 ABBA01070325;ABBA01070326;AC068989;AC095051;AC116634;AF196478;AJ238979;AMYH02010470;AMYH02010471;AY626137;BC007320;BM768053;CB163976;CH471056;KF457832;NM_007193;XM_006714073 AAF06672;AAH07320;AAT42216;ABW03531;CAB51917;EAX04810;NP_009124;Q9UJ72;XP_006714136 Hs.188401 1719885;2107833 ANXA10_7997;RH123635 ANX14 OTTHUMP00000219959;annexin 14;annexin-10;annexin-14 APPROVED protein-coding ENSG00000109511 HGNC:534 09724 608008 REVIEWED 730873 ANXA1 annexin A1 Annexin I belongs to a family of Ca(2+)-dependent phospholipid binding proteins which have a molecular weight of approximately 35,000 to 40,000 and are preferentially located on the cytosolic face of the plasma membrane. Annexin I protein has an apparent relative molecular mass of 40 kDa, with phospholipase A2 inhibitory activity. Since phospholipase A2 is required for the biosynthesis of the potent mediators of inflammation, prostaglandins and leukotrienes, annexin I may have potential anti-inflammatory activity. [provided by RefSeq, Jul 2008] 9 9 9 q21.13 46339417 46357944 + 75766721 75785309 + 73151865 73170391 + 734574;1580863;734965;2306888;2306896;2306907;2306939;2306898;2306914;2306928;2306942;2306950;2306952;2306954;2306889;2306948;2306920;2306905;2306910;2306891;1599668;2325722;2325723;6480464;7421536;7421655;7421656;7421565;7421570;7421660;7421562;7421535;7421563;7421564;7421553;7421566;7421567;7421555;7421583;7421585;7421662;7421587;7421580;7483559;7421560;7421657;7421556;7421558;7421540;7421541;7421575;8552898;7421559;7421573;7421537;7421538;7421539;8554872 10331485;10403283;10489933;10603033;11005211;11423489;11641252;12368905;1385581;14587099;15784654;16034371;16109804;16316942;17653046;17917587;17974280;17994624;1830327;18761105;18776816;19003866;19171478;19173988;20133820;20308542;20353277;20549082;20701627;20821804;20953576;20970165;21633711;21990306;22092555;22101490;22279949;22323911;22617647;22740770;22782996;22924634;22964301;23201116;23236538;23267026;23645879;2530899;8755646;8919037;9022675;9222544;9269316;9472682;9514092 10512675;10882119;10908733;11468004;11574426;11759108;12165536;12236584;12477932;12645011;12679902;12689596;12859969;1374236;14506282;14633604;14733945;15047060;15064349;15157173;15161933;15168732;15187149;15226301;15447985;15476183;15485879;15489334;15526283;15581623;15592455;15883023;15944914;16014420;1602151;16100712;16130169;16226712;16324197;16460738;16530434;16627980;16675446;1670773;16741918;16883066;16899607;16949910;16973129;16984915;17008549;17019707;17023068;17081983;17215481;17255364;17317721;17340616;17353931;17372018;17626739;17676665;17681950;17873281;17932043;17971499;18029348;18164291;18297688;1832554;18396684;18566442;18577758;18594025;18652761;18663355;18673418;18706208;18767904;18794547;18850631;19056867;19076685;19101730;19104500;19190083;19204938;19208747;19289595;19351789;19394292;19428102;19596235;19615732;19738201;19767728;19850308;19913121;20007579;20025479;20061392;20163912;20237496;20359522;20398702;20558817;20562859;20602103;20628086;20665809;20679535;20713499;20872967;20924191;20930115;20962261;21122411;21127395;21132403;21139048;21145461;21195640;21254404;21319273;21365324;2138016;21383699;21398608;21412170;21420379;21800051;21836070;21890473;21900206;21903368;21906983;21963094;22056994;22116825;22164217;22304920;22378018;22505724;22586326;22610094;22613333;22623428;22640735;22701020;22723974;22736399;22773844;22777765;22792315;22909323;22929401;22939629;23000965;23017499;23029153;23154128;23241962;23277546;23341933;23376147;23403091;23413360;23431236;23638088;23674846;23727357;23754495;23786757;23824909;23862649;23958797;23991102;24130820;24156336;24163370;24282368;24300781;24525704;24550385;2457390;24654937;24657165;24816145;25027693;2532504;2936963;2967291;2969496;2971450;3303336;8425544;8453382;8557678;8587144;8955167;9459484;9915835 301 P04083;Q5T3N0;Q5T3N1;Q5TZZ9 AB451274;AB451401;ABBA01033867;AK074480;AK296808;AL359997;AMYH02020984;AMYH02020985;BC001275;BC018683;BC034157;BC035993;BT019896;BT019916;BT019917;CH471089;CR407684;GU997628;NM_000700;U25414;X05908 AAH01275;AAH34157;AAH35993;AAV38699;AAV38719;AAV38720;ABM82099;ABM85264;ADZ76495;BAG59381;BAG70088;BAG70215;CAA29338;CAG28612;EAW62545;EAW62546;EAW62547;EAW62548;EAW62549;EAW62550;NP_000691;P04083 Hs.494173 1645301;1649029;1652664;1667382;2123198;2177746;5017961;5093836 A009X30;ANXA1;G32952;RH68409;SHGC-12349;SHGC-13051;STS-H67867;STS-U25414 ANX1;LPC1;p35 OTTHUMP00000021474;OTTHUMP00000021475;annexin I (lipocortin I);annexin-1;calpactin II;calpactin-2;chromobindin-9;lipocortin I;phospholipase A2 inhibitory protein APPROVED protein-coding ENSG00000135046 HGNC:533 01060 151690 REVIEWED 1602061 ANTXRL anthrax toxin receptor-like ENCODES a protein that exhibits metal ion binding (inferred); receptor activity (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH paracetamol (ortholog); phenobarbital (ortholog); pirinixic acid (ortholog) 10 10 10 q11.22 42590783 42634004 - 47658233 47701443 + 46286997 46330266 + 6480464 14702039;15164054;16344560 195977 A6NF34 ABBA01033527;ABBA01033528;ABBA01033529;AC244230;AK057316;AL450388;AL603965;AMYH02022869;DB133812;NM_001278688;XM_006717684 A6NF34;NP_001265617;XP_006717747 Hs.538515 1718759;2115405;5022322 D11S2560;G16010;RH123069 protein-coding ENSG00000274209 HGNC:27277 PROVISIONAL 1344486 ANXA2P3 annexin A2 pseudogene 3 INTERACTS WITH 17beta-estradiol; arsenous acid; bucladesine 10 10 10 q21.3 59854487 59855837 + 66585285 66586634 + 64825528 64826877 + 6480464 20339536;2174397 305 ABBA01019520;AC069020;AMYH02023213;M62895;NR_001446 Hs.591361 ANX2L3;ANX2P3;LIP2;LPC2C pseudo HGNC:540 PROVISIONAL 1320510 ANXA11 annexin A11 This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain the calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, May 2013] 10 10 10 q23 75905819 75956262 - 81914880 81965433 - 80155124 80205677 - 1580863;6480464 10037139;11013079;11883939;12445460;12477932;12577318;12601007;12805373;1299619;14702039;15197175;15489334;1602151;16169070;16189514;16344560;16385451;17081065;17255364;18256029;19056867;19165924;19345290;19484149;19724273;19946888;20093723;20093729;20458337;20691033;20805159;21139048;21145461;21562576;21890473;21906983;22053931;22586326;22936702;22939629;23000965;23144326;23151485;23579219;23824909;24032725;24583282;24816145;7508441;8125298;8639854;9188810;9268363;9503022 311 H0Y6E1;P50995;Q5T0G7;Q5T0G8;Q5T0G9 AB209770;ABBA01003806;ABBA01003807;ABBA01003808;ABBA01003809;AJ278463;AJ278464;AJ278465;AK000567;AK056107;AK126287;AK222918;AK298362;AK300509;AK301047;AL356095;AL357617;AL513174;AMYH02023415;BC007564;BT019934;CH471142;CR450323;DA558997;L19605;NM_001157;NM_001278407;NM_001278408;NM_001278409;NM_145868;NM_145869;XM_005269741;XM_005269742;XM_006717813;XM_006717814 AAA19734;AAH07564;AAV38737;ABM84429;ABM87480;BAD93007;BAD96638;BAG51628;BAG54303;BAG60604;BAG62659;BAH13296;CAB94995;CAB94996;CAB94997;CAG29319;EAW80399;EAW80400;EAW80401;EAW80402;EAW80403;EAW80404;EAW80405;NP_001148;NP_001265336;NP_001265337;NP_001265338;NP_665875;NP_665876;P50995;XP_005269798;XP_005269799;XP_006717876;XP_006717877 Hs.530291 1797284;2128279;2136356;5122071;5491940 ANXA11;ANXA11_1921;D10S2353;STS-N35254;WI-17317 ANX11;CAP-50;CAP50 56 kDa autoantigen;OTTHUMP00000019955;OTTHUMP00000019956;OTTHUMP00000019957;OTTHUMP00000019958;annexin XI;annexin-11;autoantigen, 56-kD;calcyclin-associated annexin 50 APPROVED protein-coding ENSG00000122359 HGNC:535 03983 602572 REVIEWED 736099 ANXA2 annexin A2 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q22.2 37527343 37578364 - 60639350 60690185 - 60347151 60397986 - 1578382;1580863;1300285;2306888;2325731;2325728;2317307;6480464;7421570;7421560;7421559;8554872 11423489;14587099;14702107;15784727;16450333;19171478;19260470;20493868;20970165 10077593;10213612;10409742;10512675;10777578;10809787;11106497;11108961;11295233;11781322;11790298;11866539;11978811;12045186;12171929;12468550;12477932;12628297;12629510;12660155;12699894;12730231;12938929;13679511;14504107;14506282;14522961;14613585;14672933;14699089;14702039;14741744;14991775;14995994;15009185;15047060;15051937;15064349;15070701;15161933;15166316;15211578;15226301;15226372;15257287;15302870;1531641;15388255;15471954;15489334;15526283;15554585;15567461;15574370;15635413;15788416;15849182;15881658;15940368;15944914;15951569;15952740;16009940;1602151;16051665;16100712;16177123;16226712;16230353;16289162;16331566;16493010;16501079;16524621;16526095;16565220;16643892;16709165;16797773;16882661;16940516;16963080;16984913;16989986;17065584;17081065;17081983;17239928;17244347;17254974;17255364;17353931;17361185;17441315;17513451;17581860;17620599;17626749;17709546;17711622;17824845;17971878;17999956;18008140;18084608;18160415;18164291;18172692;18174463;18211896;1825830;18262347;18289715;18332131;18384219;18389276;18434302;18494762;18502476;18565825;18636554;18712570;18767904;18799458;18850631;18924133;18990701;19016789;19020748;19022301;19056867;19176991;19190083;19289089;19325895;19339807;19380152;19380743;19471022;19513064;19549357;19556289;19585213;19596686;19605586;19642359;19656851;19724273;19738201;19764771;19805454;19823170;19885616;19912576;19913121;19946888;19951950;19954599;1999197;20000738;20015551;20018898;20047591;20079732;20093721;20093722;20121258;20225235;20229030;20335258;20379614;20407807;20540360;20561442;20628086;20702651;20706999;20826156;20847146;20849852;20947498;21033036;21044950;21110914;21122411;21132403;21139048;21145461;21146216;21150319;21182205;21193750;21237296;21319273;21330046;21372205;2138016;2148288;21491466;21565611;21572519;21603851;21645192;2174397;21809360;21817168;21832049;21841072;21849434;21886777;21890473;21900167;21906983;21908427;21918681;21928315;21963094;21976520;21987572;22004035;22044461;22053931;22141411;22223826;22230505;22235123;22266860;22301157;22452176;22452352;22493182;22587461;22623428;22645245;22679123;22681645;22705595;22792315;22822523;22830395;22848640;22859294;22863883;22879587;22913982;22917188;22936677;22939629;22939813;22940583;22957061;23000965;23091277;23091278;23131771;23139605;23148505;23174572;23188673;23226323;23254330;23275167;23334362;23383273;23391921;23402259;23494179;23522334;23529818;23558678;23572070;23637395;23696646;23713052;23721211;23741361;23757730;23792445;23824909;23840117;23861394;23886630;23950866;23994525;24019232;24111848;24239898;24244333;24332808;24337577;24550385;2456953;24583282;24654937;24719459;24808179;24816145;25027693;2946940;2969496;3013422;7510700;7518469;7821789;7851890;7961821;8110754;8117306;8125298;8449982;8636985;8692841;8834809;8898866;8955167;9184228;9315650;9515022;9886297 302 H0YKL9;H0YKN4;H0YKS4;H0YKV8;H0YKX9;H0YKZ7;H0YL33;H0YLE2;H0YLV6;H0YM50;H0YMD0;H0YMD9;H0YMM1;H0YMT9;H0YMU9;H0YMW4;H0YN28;H0YN42;H0YN52;H0YNA0;H0YNB8;H0YNP5;P07355 AA661718;ABBA01038951;ABBA01038952;AC087385;AK092006;AK124427;AK222542;AK297923;AK309356;AMYH02030553;AMYH02030554;AW087150;BC001388;BC001748;BC009564;BC013843;BC015834;BC016774;BC021114;BC023990;BC052558;BC052567;BC066955;BC068065;BC093056;BT007432;BX640598;CH471082;CQ878716;D00017;D28364;FJ224302;NM_001002857;NM_001002858;NM_001136015;NM_004039 AAH01388;AAH09564;AAH15834;AAH16774;AAH21114;AAH23990;AAH52558;AAH52567;AAH66955;AAH68065;AAH93056;AAP36100;ABM81934;ABM85113;ACI45994;BAA00013;BAA05730;BAG52463;BAG60240;CAE45704;CAH59520;EAW77582;EAW77583;EAW77584;EAW77585;EAW77586;EAW77587;NP_001002857;NP_001002858;NP_001129487;NP_004030;P07355 Hs.511605 1644802;1687860;1688955;1745631;1792528;2138525;5016781 D15S1185;D15S1292;GDB:626485;PMC152906P1;RH15753;RH66139;SHGC-67307 ANX2;ANX2L4;CAL1H;HEL-S-270;LIP2;LPC2;LPC2D;P36;PAP-IV OTTHUMP00000163650;annexin II;annexin-2;calpactin I heavy chain;calpactin I heavy polypeptide;calpactin-1 heavy chain;chromobindin 8;chromobindin-8;epididymis secretory protein Li 270;lipocortin II;placental anticoagulant protein IV;protein I APPROVED protein-coding ENSG00000182718 HGNC:537 01061 151740 REVIEWED 1316801 ANXA13 annexin A13 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 8 8 8 q24.13 120881263 120937857 - 124693034 124749647 - 123680794 123737407 - 1580863;6480464;8554872 10737800;10871286;11581287;11961095;12477932;14718574;1530946;15813707;18029348;19056867;20701074;21139048;21184583;22219177;8125298;9503022 312 E5RIN3;P27216 ABBA01037883;AC011134;AC135166;AJ306450;AK057781;AK223374;AK290281;AMYH02018709;AW296908;AW854063;BC125158;BG823061;CH471060;CR541838;NM_001003954;NM_004306;Z11502 AAI25159;BAD97094;BAF82970;CAA77578;CAC34622;CAG46637;EAW92046;EAW92047;EAW92048;NP_001003954;NP_004297;P27216 Hs.181107 1703414;1750865;2114426;2131330 D8S1979;D8S2044;SHGC-104642;SHGC-68785 ANX13;ISA;MGC150460 OTTHUMP00000228108;OTTHUMP00000228109;annexin XIII;annexin, intestine-specific;annexin-13;intestine-specific annexin APPROVED protein-coding ENSG00000104537 HGNC:536 03984 602573 REVIEWED 1347050 ANXA2P2 annexin A2 pseudogene 2 ENCODES a protein that exhibits calcium ion binding (inferred); calcium-dependent phospholipid binding (inferred); cytoskeletal protein binding (inferred); INVOLVED IN negative regulation of catalytic activity (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; arsenous acid; cadmium atom 9 9 9 p13 33556028 33557326 + 33624223 33625532 + 33624225 33625534 + 6480464 19615732;20000738;21145461;21555518;2174397;21906983;23184937;24332808;24816145;2969496 304 A6NMY6 ABBA01065043;AL139008;AMYH02019423;M62898;NG_001337;NR_003573 A6NMY6 Hs.534301 1687860;1745631;1792528 GDB:626485;PMC152906P1;RH66139 ANX2L2;ANX2P2;LPC2B pseudo HGNC:539 VALIDATED 735865 ANXA3 annexin A3 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008] 4 4 4 q21.21 76768779 76827650 + 79472742 79531605 + 78551588 78610451 + 1580863;6480464;2289160;8554872 18055803 10391209;10662590;12477932;12665801;15226301;15489334;16009940;16130169;16169070;16236264;17205602;17207965;18029348;1830024;19056867;20103635;20167856;21055154;21132403;21137070;2138016;2138632;21435174;2159184;21890473;21906983;22189913;22304920;22446963;22558069;22939629;23000965;23011854;23464856;23631820;24529757;24824926;2968983;2975506;7526843;8276419;8626524;8639653;8889548;9497492;9550422 306 D6RA82;D6RAZ8;D6RCA8;D6RFG5;D6RFJ9;P12429 AB209868;ABBA01063381;ABBA01063382;ABBA01063383;AC104808;AK313945;AMYH02009543;BC000871;BU674495;BX336217;CH471057;CR407648;L20591;M20560;M63310;NM_005139;XM_005262973 AAA16713;AAA52284;AAA59496;AAH00871;ADQ32626;BAD93105;BAG36663;CAG28576;EAX05822;EAX05823;EAX05824;NP_005130;P12429;XP_005263030 Hs.480042 1658258;1683529;1687095;1690994;1743023;1771450;2114544;2116409;2128299;2171653 D4S3345;D4S451;GDB:249615;RH10990;SHGC-24222;SHGC-59531;SHGC-59532;SHGC-67306;SHGC-67856;SHGC4-147 ANX3 35-alpha calcimedin;Annexin III (lipocortin III);OTTHUMP00000160701;OTTHUMP00000219237;OTTHUMP00000219238;PAP-III;annexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha);annexin-3;calcimedin 35-alpha;inositol 1,2-cyclic phosphate 2-phosphohydrolase;lipocortin III;placental anticoagulant protein III APPROVED protein-coding ENSG00000138772 HGNC:541 00111 106490 REVIEWED 735938 ANXA4 annexin A4 Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. [provided by RefSeq, Jul 2008] 2 2 2 p13 69820355 69904776 + 69947946 70053596 + 69720796 69826464 + 1580863;6480464 10708762;10883672;10949146;10978337;12324456;12477932;1346776;15145526;15226301;15489334;15952740;16021519;16130169;16687573;16954445;17363042;17676665;18029348;18164291;18781797;19056867;19471022;19598262;19913121;19955935;20000738;20237821;20360068;20379614;20602103;20628086;20648654;21044950;21139048;21348943;2138016;2143074;2148260;21800051;21890473;21900206;21906983;22053931;22056994;2254922;22847161;22883517;22939629;22970268;23000965;23290009;23362303;24150977;24223161;24457600;24816145;2530088;2970257;2974032;2975506;8002935;8631806;8798684;8882729;8889548;9084877;9720986 307 P09525;Q6LES2;Q6P452 AB209457;ABBA01075512;ABBA01075513;ABBA01075514;AC019206;AC092431;AC112787;AK058017;AK293177;AK293396;AK293406;AK303960;AK315511;AMYH02004026;AMYH02004027;AMYH02004028;AMYH02004029;AY453398;BC000182;BC011659;BC063672;BE886769;BX641114;CB305705;CH471053;CR407681;D78152;FJ224287;M19383;M82809;NM_001153;XM_006712000 AAA51740;AAC41689;AAH00182;AAH11659;AAH63672;AAS47515;AAY14864;ABM83780;ABM87100;ACI45979;BAA11227;BAD92694;BAG37892;BAG56720;BAG56905;BAG56913;BAG64884;CAE46052;CAG28609;EAW99844;NP_001144;P09525;XP_006712063 Hs.422986 1710230;1768411;1797286;2120994;2144581;2170185;2186319;5020274;5024761 ANXA4_2332;D2S2560;D2S2862;L18441;RH1484;RH36905;RH65876;SHGC-15259;SHGC-83751 ANX4;DKFZp686H02120;HEL-S-274;MGC75105;P32.5;PAP-II;PIG28;PP4-X;ZAP36 35-beta calcimedin;OTTHUMP00000160052;OTTHUMP00000202207;annexin IV (placental anticoagulant protein II);annexin-4;carbohydrate-binding protein p33/p41;chromobindin-4;endonexin I;epididymis secretory protein Li 274;lipocortin IV;placental anticoagulant protein II;proliferation-inducing gene 28;proliferation-inducing protein 28;protein II;zap 36/annexin iv APPROVED protein-coding ENSG00000196975 HGNC:542 00112 106491 REVIEWED 1605501 ANXA2R annexin A2 receptor INTERACTS WITH (+)-catechin 5 5 5 p12 42928300 42929565 - 43039182 43040447 - 43039080 43040345 - 10359570;12477932;15146197;16895901;18636554;19322201;22223826;23640736 389289 Q3ZCQ2 ABBA01024244;AC025171;AMYH02011231;AY032883;BC067873;BQ670161;CH471119;CN261477;NM_001014279 AAH67873;AAK52335;EAW56037;EAW56038;NP_001014301;Q3ZCQ2 Hs.529385 1668102 RH41910 AX2R;AXIIR;C5orf39 annexin II receptor;annexin-2 receptor APPROVED protein-coding ENSG00000177721 HGNC:33463 18393 611296 VALIDATED 733718 ANXA6 annexin A6 Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010] 5 5 5 q33.1 146561624 146618767 - 150480267 150537443 - 151100706 151157882 - 1580863;6480464 10571081;10618640;11696438;12140262;12477932;12534274;12885247;1420329;14530271;14702039;15047060;15226301;15242332;15355961;15489334;15576473;16153422;16169070;16605264;16674946;16944923;17081065;17255364;17822395;17824845;17893145;18164291;18245088;1831222;18781797;18786929;19056867;19322030;19345290;19386597;19900398;19946888;20000738;20363475;20706999;20888375;21119665;21139048;21145461;21185831;21216236;2138016;2139657;21672540;21890473;21906983;21963094;21990038;22053931;22399299;22505724;22586326;22797061;22863883;23000965;23341998;23349634;23360953;23541940;23683957;24194536;24354805;24583282;24816145;2528541;2731935;2963335;3258820;7698768;7753047;8146179;8709144;8798684;8834809;9195978;9480874;9515022;9883272 309 E5RFF0;E5RI05;E5RIU8;E5RJF5;E5RJR0;E5RK63;E5RK69;E7EMC6;H0YC77;P08133 ABBA01026265;ABBA01026266;ABBA01026267;ABBA01026268;AC008641;AI566871;AK126836;AK130077;AK290672;AK298582;AK303078;AMYH02012464;BC017046;BM904172;BQ924484;CH471062;D00510;DC411634;J03578;NM_001155;NM_001193544;X77673;XM_005268432;Y00097 AAA35656;AAH17046;ABM82536;ABW03390;BAA00400;BAC85290;BAC86715;BAF83361;BAH12818;BAH13893;CAA68286;EAW61684;EAW61685;EAW61686;EAW61687;NP_001146;NP_001180473;P08133;XP_005268489 Hs.412117 1744153;1757987;1758117;1758529;1772377;1781006;2136362;2145830;2147016;2217014;5491794 ANXA6;ANXA6_2739;GDB:392715;RH44551;RH47466;SGC34325;SHGC-147039;SHGC-147435;SHGC-148636;STS-AA031316;bac5670S ANX6;CBP68;CPB-II;p68;p70 67 kDa calelectrin;OTTHUMP00000226119;OTTHUMP00000226120;OTTHUMP00000226122;annexin VI (p68);annexin-6;calcium-binding protein p68;calelectrin;calphobindin II;calphobindin-II;chromobindin-20;lipocortin VI APPROVED protein-coding ENSG00000197043 HGNC:544 00231 114070 REVIEWED 1346050 ANXA2P1 annexin A2 pseudogene 1 INTERACTS WITH arsenous acid; cadmium atom; cobalt dichloride 4 4 4 q31.3 151553153 151554495 - 154228621 154229963 - 153307469 153308811 - 6480464 1611909;2174397 303 ABBA01070135;AC013477;AMYH02010317;M62896;NR_001562 Hs.546235 1687860;2138525 D15S1185;RH66139 ANX2L1;ANX2P1;LPC2A pseudo HGNC:538 VALIDATED 1317074 ANXA8 annexin A8 This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008] 10 10 10 q11.22 1 3160 + 48255204 48271369 + 47467993 47991772 - 1580863;2325733;2325735;6480464;8554872 18223320;19376120 11917092;12477932;1313714;1364010;15644210;15928709;16203777;16638567;17113583;18923148;20360068;21344395;21800051;21832049;23001853;2530088;8895530 653145 B4DTB3;P13928;Q5T2P8 AC245041;AK296573;AK296976;AK298761;AK300139;AK300158;AL591684;AL603922;BC004376;BC073755;BX547991;BX547994;BX649215;CB270161;DC339657;DR980366;FO681492;M81844;NM_001040084;NM_001271702;NM_001271703;XM_006717951;XR_246202;XR_428714;Z36830 AAB46383;AAH04376;AAH73755;ABM87774;BAG59193;BAG59518;BAG60903;BAG61925;BAG61941;NP_001035173;NP_001258631;NP_001258632;P13928;XP_006718014 Hs.535306;Hs.744068 5096416 SHGC-12720 ANX8;FLJ32754;VAC beta VAC-beta;annexin VIII;annexin-8;vascular anticoagulant-beta protein-coding ENSG00000265190 HGNC:546 602396 REVIEWED 734268 ANXA5 annexin A5 The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq, Jul 2008] 4 4 4 q27 119974664 120003661 - 122589152 122618147 - 121667997 121696992 - 1578384;1580863;2317541;2317543;2317538;2317542;6480464;7241853;7241858;7242028;7242029;7242031;7242030 11271515;12200370;16025836;16501019;17999093;19488907;20648654;21124692;21918686;8056721;8814351 10329451;10903505;11076863;11256614;11773704;12102261;12477932;12689596;12732504;12769841;12798778;12871462;1310621;1311770;1397263;14710359;14764526;15173196;15242332;15242878;15280367;15286043;15381697;15489334;15489336;15526283;15634283;15692104;15952740;16009940;1602151;16130169;16169070;16381901;16389029;16449315;16579937;16670301;16704958;16785226;1683830;16916647;17053060;17137622;17339269;17363042;17408414;17540176;17676665;17681182;17766279;17869070;17893975;18164291;18384219;18462735;18703851;18773956;18781797;18951241;18976975;18977990;19056482;19056867;19234085;19238444;19345290;19372761;19461527;19471022;19578796;19596686;19620076;19639233;19639585;19652881;19799864;19810772;19846818;19946888;20000738;20174767;20360068;20532885;20542876;20643388;20705065;20805002;21044950;21067452;21078669;21139048;21185149;21289001;21298269;21319273;2138016;21426764;21450308;2147412;2148156;21563266;21685187;21693764;21741441;21832049;21890473;21906983;21963094;21988832;22053931;22174207;22266906;22304920;22341596;22425772;22452176;22463102;22536838;22624674;22635237;22728018;22804929;22807456;22879587;22939629;23000965;23284897;23383273;23443559;23498654;23529182;23724626;23824909;23850300;23899942;23981755;23984545;24021657;24140079;24152411;24250222;24304966;24318879;24337577;24423325;24466757;2455636;24600987;24816145;24872142;25080795;2532007;2957692;2960376;2963810;2964863;2967291;2967495;2968983;2974032;7519374;7958998;8034319;8045287;8495746;8667030;8834809;9398511;9435213;9584197 308 D6RBE9;D6RBL5;D6RCN3;E9PHT9;P08758;V9HWE0 ABBA01044728;ABBA01044729;AC096730;AK297909;AK312644;AMYH02010012;AY577779;BC001429;BC004993;BC012804;BC012822;BC018671;BC032093;CH471056;CR536522;CR541842;D00172;EU794590;J03745;M18366;M19384;M21731;NG_032042;NM_001154;U01681;U01691;U05770;X12454 AAA35570;AAA36166;AAA52386;AAB40047;AAB59545;AAB60648;AAH01429;AAH04993;AAH12804;AAH12822;AAH18671;AAY40954;ABM82870;ABW03461;ABW03769;ACJ13644;BAA00122;BAG35528;BAG60228;CAA30985;CAG38759;CAG46640;CAL38022;EAX05256;EAX05257;EAX05258;EAX05259;EAX05260;NP_001145;P08758 Hs.480653 1657939;1684010;1725703;1739051;1770139;1775143;2131277;2170965;2217012;5124144;7187404 ANXA5_3263;D4S2700;D4S3274;G62114;SHGC-50259;SHGC-59736;SHGC-67991;SHGC-8558;SHGC4-1011;WI-18730 ANX5;CBP-I;ENX2;HEL-S-7;PAP-I;PP4;RPRGL3;VAC-alpha OTTHUMP00000164026;OTTHUMP00000219982;OTTHUMP00000219983;OTTHUMP00000219985;anchorin CII;annexin 5;annexin V;annexin-5;calphobindin I;endonexin II;epididymis secretory protein Li 7;lipocortin V;placental anticoagulant protein 4;placental anticoagulant protein I;thromboplastin inhibitor;vascular anticoagulant-alpha APPROVED protein-coding ENSG00000164111 HGNC:543 00568 131230;614391 REVIEWED 1350124 ANXA8L2 annexin A8-like 2 This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008] 10 q11.22 47746816 47763041 + 6480464 11917092;12477932;1364010;14702039;15164054;15489334;15928709;16344560;18223320;20360068;21044950;21800051;21988832;2530088;8018923;8045287;8125298 244;414306 ABBA01007935;AC245513;AL603965;DA698972;NM_001630 ABM84356;CAH70574;CAH70575;NP_001621;Q5VT79 Hs.705389 5096416 SHGC-12720 ANXA8;bA145E20.2 annexin A8-like protein 2;annexin A8L2 protein-coding ENSG00000186807 HGNC:23335 03866 REVIEWED 1352405 ANXA9 annexin A9 The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008] 1 1 1 q21 124070194 124083809 + 150954499 150968114 + 150982023 150995638 + 1580863;6480464;8554872 10899159;12477932;12832069;15302935;15489334;16169070;16710414;19953087;20383146;21832049;21926416;21983785;22841549;23585552;24097068;9165068;9742942;9931420 8416 O76027 ABBA01049364;ABBA01049365;AF230929;AJ009985;AK314926;AL590133;AMYH02001869;BC005830;BJ993162;CH471121;CR536481;JB025796;NM_003568;XM_005245539 AAG16780;AAH05830;ABM83945;ABM87263;CAA08933;CAG38720;CCV20016;EAW53496;NP_003559;O76027;XP_005245596 Hs.3346 1768131;2217016 ANXA9_2947;SHGC-107 ANX31 OTTHUMP00000033027;annexin 31;annexin XXXI;annexin-31;annexin-9;pemphaxin APPROVED protein-coding ENSG00000143412 HGNC:547 603319 VALIDATED 1352932 AOAH acyloxyacyl hydrolase (neutrophil) This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010] 7 7 7 p14-p12 36537055 36748659 - 36552549 36764154 - 36512941 36724549 - 1580863;6480464;8554872 12477932;15342556;15489334;16344560;16815140;1883828;1987068;20205591;20237496;20379614;22723975;23251661;8088847;8089145;8125298;8613354 313 B7Z598;C9JJA7;F8WCP9;P28039 ABBA01056907;ABBA01056908;ABBA01056909;ABBA01056910;AC083876;AC087069;AK223476;AK297016;AK298644;AK308215;AMYH02015533;AMYH02015534;BC025698;BP310596;CH236951;CH471073;CR748867;DA469735;DC314135;KF454909;KF458438;KF511026;M62840;NM_001177506;NM_001177507;NM_001637 AAA35506;AAH25698;ABM81866;ABM85026;BAD97196;BAH12476;BAH12834;EAL23977;EAW94073;NP_001170977;NP_001170978;NP_001628;P28039 Hs.488007 1645411;1668566;1754535;1755325;1779914;1779980;1786198;1790567;2126054;2145683;2159245;2162966;2175072 AOAH;D7S2717;D7S781;HSC202_(7Gr362mb);RH17719;SHGC-106107;SHGC-132818;SHGC-142211;SHGC-154159;SHGC-154227;SHGC-33300;SHGC-52591;WI-9088 OTTHUMP00000128208;OTTHUMP00000206984;acyloxyacyl hydrolase APPROVED protein-coding ENSG00000136250 HGNC:548 00027 102593 REVIEWED 6481095 AOAH-IT1 AOAH intronic transcript 1 (non-protein coding) 7 7 36637440 36639726 - 36597834 36600120 - 100874264 ABBA01056908;AC087069;AMYH02015534;HG500189;NR_046764 Hs.690994 AC087069.1 ncrna HGNC:41307 PREDICTED 731625 ANXA7 annexin A7 Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008] 10 10 10 q22.2 68420787 68459438 - 75135189 75173841 - 73375431 73414083 - 734966;1580863;2292654;2292656;2292655;6480464;8554872 10570150;11287641;15073110;17708571 10672515;11278415;11338180;11839755;11994295;12445460;12477932;14519201;1533123;15489334;16385451;17018618;17112522;17255364;1825209;18256029;18449914;19056867;19322201;19602687;19946888;20093729;20190808;20195357;20691033;20858460;20936779;21139048;21145461;21432772;21531385;21586441;21800051;21900206;21906983;21963094;22053931;22939629;23000965;23383273;23437197;23582794;23651924;24007983;24188284;24816145;24865424;2542947;7515686;7738119;8053909;8125298;9268363 310 B2R657;B4DT77;B9ZVT2;P20073 AB062429;ABBA01020326;ABBA01020327;AK222552;AK295319;AK300086;AK301681;AK307772;AK309141;AK312447;AK313024;AL353731;AL512656;AMYH02023333;AMYH02023334;AW518993;BC001322;BC002632;BT007187;CH471083;CR407686;DC367313;J04543;M64272;NM_001156;NM_004034;XM_005269738;XM_005269739 AAA36616;AAH02632;AAP35851;BAB93492;BAD96272;BAG35354;BAG35859;BAG58296;BAG61889;BAG63154;CAG28614;EAW54493;EAW54494;NP_001147;NP_004025;P20073;XP_005269795;XP_005269796 Hs.631827 1654451;1797288;2116359;2117833;2175712;5120676;5120678;5120680 ANXA7_2109;GDB:369091;GDB:369094;GDB:369097;RH17592;RH47719;SHGC-12519;WI-11929 ANX7;SNX OTTHUMP00000019812;OTTHUMP00000019813;SYNEXIN;annexin VII;annexin-7 APPROVED protein-coding ENSG00000138279 HGNC:545 01720 186360 REVIEWED 1354199 ANXA8L1 annexin A8-like 1 This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Apr 2014] 10 10 10 q11.22 119 6073 - 47157983 47174180 - 46375590 46391784 + 6480464 11917092;12477932;1364010;14702039;15164054;15489334;15928709;16344560;18223320;20360068;21044950;21800051;21988832;2530088;8018923;8045287;8125298 728113 B4DTF2;P13928;Q5T2P7;Q5VT79 AC244230;AK223149;AK300191;AK307182;AK313626;AL391137;AL603965;BC008813;DA698972;DC381265;NM_001098845;NM_001278923;NM_001278924;NM_001630;X16662 AAH08813;ABM84356;BAD96869;BAG36386;BAG61964;CAA34650;CAH70574;CAH70575;CAI12203;CAI12204;NP_001092315;NP_001265852;NP_001265853;NP_001621;Q5T2P8 Hs.705389 5096416 SHGC-12720 ANXA8;ANXA8L2;VAC-beta;bA145E20.2;bA301J7.3 OTTHUMP00000019521;OTTHUMP00000019522;annexin A8-like protein 1;annexin A8-like protein 2;annexin A8L2;annexin VIII;annexin-8;vascular anticoagulant-beta protein-coding ENSG00000264230 HGNC:23334 VALIDATED 1343174 AOM arthroophthalmopathy, progressive (Stickler syndrome) 315 HGNC:551 732341 AOC1 amine oxidase, copper containing 1 This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] 7 7 7 q36.1 145106596 145115402 + 150524336 150558379 + 150824627 150861291 + 1298636;1580863;1300048;2315591;2312809;6480464;6907045;8554872 1632778;16895983;8182053 10660106;11603849;11855874;12072962;12419186;12477932;12690205;12755416;12913069;1356107;14702039;15489334;15928835;16489678;16846222;17651147;17700358;17985251;1898707;19670078;19701972;19764817;20062061;20124708;20602615;21040557;21225906;21488903;2217167;2227949;22433290;23099198;24097068;7626074;7806511;8144586;8195119;8396495;8595053;8645981;8829374;9399025 26 C9J0G8;C9J2J4;P19801 AACC02000108;ABBA01035175;AC006343;AC006479;AK092514;AK296638;AK307278;AK314806;AMYH02017064;AY948960;BC014093;BX648159;CH471173;M55602;NM_001091;NM_001272072;U11862;U11863;X78212;XM_005249967;XM_006715918 AAA58358;AAB60381;AAC50270;AAH14093;AAX81409;ADZ15523;BAG52564;BAG59239;CAA55046;EAL24490;EAW54081;EAW54082;EAW54083;EAW54084;EAW54085;EAW54086;EAW54087;NP_001082;NP_001259001;P19801;XP_005250024;XP_006715981 Hs.647097;Hs.733889 1767349;1852615;2128737;5014051;5016478;5017433;5020740;5022651;5037552 ABP1;D11S2921;D7S2745;D8S2278;D8S2279;GDB:434012;L17809;RH71199;STS-T76997 ABP;ABP1;DAO;DAO1;KAO OTTHUMP00000212758;OTTHUMP00000212759;OTTHUMP00000212762;OTTHUMP00000212763;OTTHUMP00000212764;amiloride binding protein 1;amiloride binding protein 1 (amine oxidase (copper-containing));amiloride-binding protein 1;amiloride-binding protein-1;amiloride-sensitive amine oxidase;amiloride-sensitive amine oxidase [copper-containing];amine oxidase copper domain-containing protein 1;diamine oxidase;histaminase;kidney amine oxidase APPROVED protein-coding ENSG00000002726 HGNC:80 00088 104610 REVIEWED 1344698 AOC2 amine oxidase, copper containing 2 (retina-specific) Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 17 17 17 q21 37652664 37658779 + 40996609 41002724 + 42844592 42850707 + 1580863;6480464;6907045;8554872 12477932;14585497;15146197;19588076;9119395;9722954 314 O75106 AB012943;ABBA01006405;AC016889;AF081363;AMYH02033441;BC142641;CA425343;CH471152;CN355968;D88213;DQ060035;NM_001158;NM_009590 AAD39345;AAI42642;AAY43129;BAA19001;BAA32589;BAA32590;EAW60895;EAW60896;NP_001149;NP_033720;O75106 Hs.143102 1648289;1657648;1769215;1770053 RH16239;RH47258;RH68315;STS-U11292 DAO2;RAO;SSAO retina-specific copper amine oxidase;semicarbazide-sensitive amine oxidase APPROVED protein-coding ENSG00000131480 HGNC:549 11889 602268 REVIEWED 7247040 AOC4P amine oxidase, copper containing 4, pseudogene 17 17 17 q21.31 37675234 37677306 + 41019162 41021234 + 42867145 42869217 + 14585497;17385066;20013028;9767118 90586 ABBA01006404;AC016889;AF047485;AF047486;AMYH02033441;NR_002773 Hs.367781 1658515 WI-17817 AOC4 pseudo ENSG00000260105 HGNC:48869 PROVISIONAL 1347849 AOC3 amine oxidase, copper containing 3 This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 17 17 17 q21 37659256 37666196 + 41003201 41010147 + 42851184 42858130 + 1580863;2313821;2313823;2313824;2313825;2313919;2313912;2313915;2313925;2313928;2313820;2313822;2313908;2313827;2313914;2313916;2313819;2313826;2313828;6480464;6907045;8554872 11052858;11522499;12466139;12606817;12663473;14656718;16339390;16397885;16947396;17393059;17977742;17993604;18032635;18312104;18436961;19336232;19635478;2218072 12097405;12477932;12700900;1375396;14585497;14715500;14726375;14755492;15057044;15242332;15489334;15830186;15919838;16046623;16335952;16344560;16361866;16507887;16511016;16556889;16806498;17006978;17255364;17256751;17393062;17400359;17431736;17490641;18005095;18029348;18644360;18853098;18991279;19361461;19761765;19764817;19789505;19861682;20063021;20512991;21114364;21139198;21282368;21512782;21585208;21819380;21821708;21988832;22133888;22150439;22354146;22618595;22714978;22753196;23062326;23120772;23349812;23769096;24379274;8619474;8972912;9110174;9653080 8639 K7EIK5;K7EL47;K7EQZ5;Q16853;Q9UEU7 AB050502;ABBA01006405;AC016889;AF054985;AF067406;AK025727;AK315129;AMYH02033441;BC036368;BC050549;CH471152;DA592022;DB250074;DQ143944;JX020506;NM_001277731;NM_001277732;NM_003734;NR_102422;U39447 AAC09346;AAC25170;AAC50919;AAH50549;AAZ38716;AGB67480;BAB18866;BAG37582;EAW60897;NP_001264660;NP_001264661;NP_003725;Q16853 Hs.198241 1663429;1663431;1675473;1770053;1795362 AOC3_83;RH11943;RH68315;RH81032;WI-20493 HPAO;SSAO;VAP-1;VAP1 amine oxidase, copper containing 3 (vascular adhesion protein 1);copper amine oxidase;membrane primary amine oxidase;placenta copper monamine oxidase;semicarbazide-sensitive amine oxidase;vascular adhesion protein 1;vascular adhesion protein 1 splice variant 2, VAP-1A3 APPROVED protein-coding ENSG00000131471 HGNC:550 04770 603735 REVIEWED 1347570 AP1AR adaptor-related protein complex 1 associated regulatory protein ENCODES a protein that exhibits AP-1 adaptor complex binding; kinesin binding; INVOLVED IN negative regulation of receptor recycling; negative regulation of substrate adhesion-dependent cell spreading; vesicle targeting, trans-Golgi to endosome; FOUND IN cytoplasm; Golgi apparatus; nucleolus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; clofibrate (ortholog) 4 4 4 q25 110446973 110485290 + 113152893 113191211 + 112231737 112270055 + 737633;6480464 12477932 11076863;11230166;11256614;15144186;15489334;15489336;15775984;15815621;16344560;16381901;18029348;19322201;19706427;19965873;20332099;21139048;21525240;21890473;8889548 55435 H0Y8Y4;Q63HQ0 ABBA01063814;AC109347;AF116612;AI273122;AK310787;AK315299;AL136628;AMYH02009932;BC009485;BM974015;BX647702;CH471057;DA463845;NM_001128426;NM_018569;XM_005263116 AAF71037;AAH09485;AAY40962;ACE86577;ACE87260;BAG37704;CAB66563;CAH56145;CAL37652;CAL37924;CAL38032;CAL38480;CAL38584;EAX06268;EAX06269;EAX06270;EAX06271;EAX06272;NP_001121898;NP_061039;Q63HQ0;XP_005263173 Hs.435991;Hs.606210 1711074;1717343 RH122162;SHGC-86173 2C18;C4orf16;GBAR;PRO0971;gamma-BAR AP-1 complex-associated regulatory protein;OTTHUMP00000163749;OTTHUMP00000219661;adapter-related protein complex 1-associated regulatory protein;gadkin;gamma-1-adaptin brefeldin A resistance protein;gamma-A1-adaptin and kinesin interactor;gamma1-adaptin brefeldin A resistance protein, gamma-BAR APPROVED protein-coding ENSG00000138660 HGNC:28808 12824 610851 VALIDATED 733539 AOX1 aldehyde oxidase 1 Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008] 2 2 2 q33 195205613 195291094 + 201450731 201536218 + 200586008 200671495 + 734575;1580863;1300048;6480464;6907045;8554872 7570184 11302742;12054535;12477932;16712791;17992631;18029348;19056867;19500084;19741035;19898482;20379614;20800603;21988832;22031625;22279051;22495427;22522748;23263164;23857892;23918943;8043023;8248161;8889548 316 B4DNI5;C9J244;H7BXF7;H7C3Q1;Q06278 AB046692;ABBA01062516;ABBA01062517;AC007163;AC080164;AF010260;AF017060;AK297930;AK301052;AK307738;AL079797;AMYH02005538;AMYH02005539;AMYH02005540;BC117179;BC117181;BM681054;CB153864;CH471063;FB789700;FB794625;FB798872;FB811643;FB848178;FB866440;FB885306;FB890693;FB896453;GN364811;HB659759;HB664684;HB668931;HB681702;HB718237;HB736499;HB755365;HB760752;HB766512;L11005;NM_001159 AAA96650;AAB83966;AAB83968;AAI17180;AAI17182;AAX93285;AAY24265;BAB40305;BAG60247;BAG62663;CAW36666;CAW39000;CAW41181;CAW47197;CAW63617;CAW71847;CAW80339;CAW82831;CAW86206;CAY77140;CBC02619;CBC04872;CBC06832;CBC12951;CBC45781;CBC62201;CBC79136;CBC84084;CBC89038;EAW70208;EAW70209;NP_001150;Q06278 Hs.406238 1772530;1772557;2160368 G31889;RH11649;WI-9291 AO;AOH1 OTTHUMP00000205961;aldehyde oxidase;azaheterocycle hydroxylase APPROVED protein-coding ENSG00000138356 HGNC:553 07537 602841 REVIEWED 1350470 AP1B1 adaptor-related protein complex 1, beta 1 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 22 22 22 q12.2 13523525 13584427 - 29723669 29784754 - 29327680 29388583 - 734576;1580863;6480464;6484113;8554872 7987321 10097102;10535737;10608806;10737800;10747088;10931822;10966473;11031247;11106728;11222723;11252894;11409905;11451993;11463741;11694590;11877451;11926829;12070169;12419313;12429846;12477932;12486136;12538641;12836198;15063762;15231748;15461802;15569716;15681409;15752756;15862967;16009131;16196087;16253302;16344560;17290217;18336259;18614564;19149577;19380743;20009918;20594957;21139048;21145461;21319273;21444685;21762802;21890473;21906983;21987572;21988832;22103831;22360420;22586326;22863883;22939629;22990118;23000965;23077317;23205726;23383273;23678182;23705972;24255178;24332808;24797263;24816145;7593184;8812422;8975699;9280305;9707615;9733768;9736718;9811606;9811611;9882340 162 C9J1E7;H7C034;Q10567 ABBA01055261;AC002059;AI084003;AK294406;AK296567;AK299613;AMYH02038199;AU139022;BC046242;BG999878;BM909530;BX537680;CD364485;CH471095;CT841508;HB900728;HC958137;KF457400;L13939;NM_001127;NM_001166019;NM_145730;U36267;U36268;Y07848 AAC50684;AAC98702;AAH46242;BAG57658;BAG59187;BAG61541;CAD97809;CAJ86438;CAK54367;CAK54666;CBF79614;CBU99115;EAW59798;EAW59799;EAW59800;NP_001118;NP_001159491;NP_663782;Q10567 Hs.368794 1685524;1705854;1717655;1816194;2011526;2011556;2135244;2218224;5117042 AP1B1__4319;ECD09137;GDB:386099;REN76685;REN76702;RH122132;RH17619;RH27786;SHGC-81187 ADTB1;AP105A;BAM22;CLAPB2 AP-1 complex subunit beta-1;Golgi adaptor HA1/AP1 adaptin beta subunit;OTTHUMP00000199165;OTTHUMP00000199166;OTTHUMP00000199168;adapter-related protein complex 1 subunit beta-1;adaptor protein complex AP-1 subunit beta-1;adaptor-related protein complex 1 subunit beta-1;beta-1-adaptin;beta-adaptin 1;beta-prime-adaptin;beta1-adaptin;clathrin assembly protein complex 1 beta large chain;plasma membrane adaptor HA2/AP2 adaptor beta subunit APPROVED protein-coding ENSG00000100280 HGNC:554 02541 600157 REVIEWED 1603491 AOX2P aldehyde oxidase 2 pseudogene INTERACTS WITH (+)-catechin 2 2 2 q33.1 195315326 195413857 + 201560446 201658946 + 200695723 200794223 + 6480464 11562361;16344560;20210993;20800603;22760553;23263164;8889549 344454 ABBA01062519;AC007163;AMYH02005541;AY245868;DB346520;JX431285;JX431286;NR_001557 Hs.148269 1696052;1780076;1784174;1847244 G31882;SHGC-154326;SHGC-155145;SHGC-83201 AOH2;AOX2 pseudo HGNC:18450 PROVISIONAL 1347850 AP1B1P1 adaptor-related protein complex 1, beta 1 subunit pseudogene 1 22 22 22 q12.3 16328763 16328953 + 32517964 32529456 + 32121977 32133469 + 10591208 23782 ABBA01055364;AMYH02038263;BM554504;NR_040114;Z83839 Hs.581098 1802840;1824170;2011508;2011510;2011512;2011514;2011516;2011518;2011520;2011522;2011524;2011526;2011528;2011534;2098330;2098332 ECD02308;ECD13181;REN76676;REN76677;REN76678;REN76679;REN76680;REN76681;REN76682;REN76683;REN76684;REN76685;REN76686;REN76689;stSG602548;stSG602549 ADTB1L1;dJ127L4.2 APPROVED pseudo ENSG00000234479 HGNC:297 VALIDATED 1350660 AP1B1P2 adaptor-related protein complex 1, beta 1 subunit pseudogene 2 22 22 22 q12.3 16330473 16330574 + 32530015 32530116 + 32134028 32134129 + 10591208 23781 ABBA01055364;AMYH02038263;NG_002624;Z83839 1831154;2011522;2011524;2011526;2011528;2011530;2011532;2011534;2011536;2011538;2011540;2011542;2011544;2011546;2098332;2098334 ECD16713;REN76683;REN76684;REN76685;REN76686;REN76687;REN76688;REN76689;REN76690;REN76691;REN76692;REN76693;REN76694;REN76695;stSG602549;stSG602550 ADTB1L2;dJ127L4.3 APPROVED pseudo HGNC:298 INFERRED 1346195 AP1G1 adaptor-related protein complex 1, gamma 1 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q23 56079081 56139681 - 71762903 71843006 - 71729000 71809073 - 1580863;6480464 10477754;10535737;10747088;10814529;11031247;11106728;11222723;11252894;11331585;11387476;11409905;11418592;11451993;11694590;11872161;11926829;11950833;12042876;12429846;12477932;12486136;12498786;12505986;12536145;12538641;12773381;14665628;14702039;15143060;15231748;15469849;15569716;15681409;15775984;16162817;16253302;16867982;17052248;17538020;17581864;18073204;18336259;19149577;19841138;19895210;19946888;20299515;20379614;20594957;21139048;21543478;21762802;21906983;22345475;22863883;22939629;23077317;23678182;23705972;23956138;24006255;24337577;24778252;24797263;24816145;7593184;8125298;9653655;9733768;9882340 164 B3KNW1;B3KXW5;B4DGE1;H3BN71;H3BN75;H3BNN2;H3BNR4;H3BPN9;H3BR36;H3BRM7;H3BS13;H3BUN9;H3BV30;O43747;Q8IY97 AB015317;ABBA01016782;ABBA01016783;ABBA01016784;ABBA01016785;AC009097;AC010653;AJ224112;AJ224113;AJ224114;AK025020;AK055122;AK128078;AK225906;AK293233;AK294546;AK299630;AK314484;AL110198;AMYH02032324;AMYH02032325;AMYH02032326;BC003414;BC036283;BC051747;BU902252;CH471166;NM_001030007;NM_001128;Y12226 AAH03414;AAH36283;ACE86968;ACE87658;BAA33389;BAG51473;BAG54627;BAG56772;BAG57752;BAG61558;CAA11832;CAA72902;CAB53673;EAW59222;EAW59223;EAW59224;NP_001025178;NP_001119;O43747 Hs.461253 1680801;1684764;1691172;2111394;2142453;2148206;2175481 D16S2532E;D16S3294;RH48231;RH65105;RH65224;SHGC-60759;SHGC-61470 ADTG;CLAPG1;MGC18255 AP-1 complex subunit gamma-1;adapter-related protein complex 1 subunit gamma-1;adaptor protein complex AP-1 subunit gamma-1;adaptor-related protein complex 1 subunit gamma-1;clathrin assembly protein complex 1 gamma large chain;clathrin assembly protein complex 1 gamma-1 large chain;clathrin-associated/assembly/adaptor protein, large, gamma 1;gamma adaptin;gamma1-adaptin;golgi adaptor HA1/AP1 adaptin gamma subunit;golgi adaptor HA1/AP1 adaptin subunit gamma-1 APPROVED protein-coding ENSG00000166747 HGNC:555 04637 603533 REVIEWED 1313902 AP1G2 adaptor-related protein complex 1, gamma 2 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is compsed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. Several alternatively spliced transcript variants of this gene exist, but their full-length nature is not known. [provided by RefSeq, Aug 2013] 14 14 14 q11.2 3891447 3899947 - 24028777 24038754 - 23559563 23569545 - 1580863;6480464 10477754;10814529;11222723;11333915;11463741;12477932;12486136;12505986;12836198;14665628;14702039;15231747;15681409;16253302;16713569;17553870;18029348;18336259;18772139;18854154;19149577;20594957;20708039;21139048;21658281;21762802;21890473;21906983;22103831;22345475;22505724;23000965;23077317;23455924;23678182;23705972;23956138;24250222;24654937;9733768;9736718;9762922;9811606;9811611;9882340 8906 G3V2V9;G3V3Z2;G3V532;H0YJ08;H0YJ47;O75843;Q86U03;Q86V28 AB015318;ABBA01061322;AF068706;AI497879;AK096034;AK123354;AK226158;AK304682;AK307696;AK309103;AK310451;AL135999;AMYH02028870;AW451370;BC051833;BG701521;BI918958;BQ073124;BX161425;BX247963;CH471078;H41406;NG_011937;NM_001282474;NM_001282475;NM_003917;XM_005268166;XM_005268167;XM_005268168;XM_005268169;XM_005268170;XM_005268171;XM_005268172;XM_005268173;XM_005268174;XM_005268175;XM_005268176;XM_005268177;XM_005268178;XM_005268179;XM_005268180;XM_005268181;XM_005268182;XM_006720301;XR_245729;XR_245730 AAC67390;AAH51833;BAA33390;BAG65453;CAD61898;CAD62302;EAW66132;EAW66134;EAW66138;NP_001269403;NP_001269404;NP_003908;O75843;XP_005268223;XP_005268224;XP_005268225;XP_005268226;XP_005268227;XP_005268228;XP_005268229;XP_005268230;XP_005268231;XP_005268232;XP_005268233;XP_005268234;XP_005268235;XP_005268236;XP_005268237;XP_005268238;XP_005268239;XP_006720364 Hs.343244;Hs.569375 1651525;1675005;2120685;2125461;2140713;2150164;2160768;2191125;7186288 A005Y33;D14S104E;D14S671E;HSC22E052;MARC_14914-14915:1012936331:1;RH15730;RH64872;SHGC-24169;STS-AA004314 G2AD AP-1 complex subunit gamma-like 2;OTTHUMP00000164599;OTTHUMP00000164600;clathrin-associated/assembly/adaptor protein, large, gamma-2;gamma2-adaptin APPROVED protein-coding ENSG00000213983 HGNC:556 04638 603534 REVIEWED 1348501 AP1S2 adaptor-related protein complex 1, sigma 2 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] X X X p22.2 19961411 19990500 - 15843929 15873137 - 15825806 15855014 - 1580863;6480464;7240710;8554872;8699517 10398241;10966473;11031247;11222723;11252894;11463741;11694590;12215646;12477932;12486136;12836198;15489334;15569716;15681409;16253302;17186471;17617514;18336259;18428203;19149577;19322201;2040623;20594957;21139048;21762802;21890473;22103831;22939629;23077317;23678182;23705972;23756445;24797263;9733768;9736718;9811606;9811611;9882340 8905 A6NH01;B7Z3M9;H0Y673;H7BZG6;P56377;Q549M9 AB015320;ABBA01071359;ABBA01071360;ABBA01071361;AC004106;AF087876;AF091077;AF251295;AK130075;AK296135;AK299921;AK302908;AK312594;AMYH02038920;BC001117;BC071867;BI462192;BT006738;BX537780;CH471074;DC401898;KF458988;NG_009274;NM_001272071;NM_003916;XM_005274612;XM_005274614;XR_247289;XR_247290;XR_247291 AAC72946;AAG44595;AAH01117;AAH71867;AAP35384;AAP97176;ABM81631;ABM84815;BAA33392;BAG61756;BAH12265;BAH13839;CAD97839;EAW98903;EAW98904;EAW98905;EAW98906;EAW98907;EAW98908;NP_001259000;NP_003907;P56377;XP_005274669;XP_005274671 Hs.121592 1683843;1685295;1694720;1701480;2132226;2139708;2153372;2174053;2179443;2218226 AP1S2__4320;G43551;RH104372;RH16361;RH17799;RH26746;RH47344;RH47350;RH66697;RH91863 DC22;MGC:1902;MRX59;MRXS21;MRXS5;MRXSF;PGS;SIGMA1B AP-1 complex subunit sigma-2;OTTHUMP00000022979;OTTHUMP00000022980;OTTHUMP00000022981;OTTHUMP00000022982;Pettigrew X-linked mental retardation syndrome;adapter-related protein complex 1 sigma-1B subunit;adapter-related protein complex 1 subunit sigma-1B;adaptor protein complex AP-1 sigma-1B subunit;adaptor protein complex AP-1 subunit sigma-1B;adaptor-related protein complex 1 subunit sigma-1B;clathrin adaptor complex AP1 sigma 1B subunit;clathrin assembly protein complex 1 sigma-1B small chain;clathrin-associated/assembly/adaptor protein small 1-like;golgi adaptor HA1/AP1 adaptin sigma 1B subunit;golgi adaptor HA1/AP1 adaptin sigma-1B subunit;mental retardation, X-linked, syndromic 5;sigma 1B subunit of AP-1 clathrin;sigma-adaptin 1B;sigma1B-adaptin APPROVED protein-coding ENSG00000182287 HGNC:560 04636 300629;304340 REVIEWED 1314769 AP2A1 adaptor-related protein complex 2, alpha 1 subunit This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 47139637 47179822 + 50270180 50310369 + 49766923 49807112 + 1580863;6480464;6484113;6907045;8554872 10336464;10436022;10551776;10567358;10764745;10953014;10966473;11157096;11170396;11230166;11302736;11331585;11423532;11447109;11517213;11532990;11598180;11723124;12036598;12057195;12364336;12429846;12477932;12577067;12595566;12646615;12775724;12942088;14517991;14702039;15020715;15057824;15231748;15489334;15862967;16055064;16055720;16103193;16139856;16169070;16497223;16696976;16709866;17108326;17560945;17581864;17620599;18032517;18178234;18524831;18781797;19116314;19129443;19380743;19738201;19802344;19946888;20012524;2014052;20360068;20594957;21139048;21762802;21880590;21890473;21906983;22262466;22323290;22360420;22623428;22678362;22939629;22952844;23077317;23151229;23305486;23705972;23751493;23874206;23956138;24255178;24332808;24797263;24816145;25027693;2564002;7593184;7791877;8617812;8662627;9049247;9182529;9259551;9280305;9651214;9723620;9882340 160 M0R2D9;O95782 ABBA01032909;AC006942;AC011495;AC098783;AF289221;AK094317;AK124343;AK302005;AL136925;AMYH02036331;AMYH02036332;BC014214;CH471177;NM_014203;NM_130787 AAD15564;AAH14214;AAL11039;AAL11040;ABM83179;ABM86380;BAC04329;BAG63408;CAB66859;EAW52535;EAW52536;EAW52537;NP_055018;NP_570603;O95782 Hs.467125 1687868;1697464;1728923;2109043;2126116;2191055;2191447 AP2A1__4334;Ap2a1;MARC_13831-13832:1006881711:1;MARC_23449-23450:1027106382:1;RH102233;RH75669;STS-AA031950 AP2-ALPHA;CLAPA1 100 kDa coated vesicle protein A;ADTAA;AP-2 complex subunit alpha-1;adapter-related protein complex 2 alpha-1 subunit;adapter-related protein complex 2 subunit alpha-1;adaptin, alpha A;adaptor protein complex AP-2 subunit alpha-1;adaptor-related protein complex 2 subunit alpha-1;alpha-adaptin A;alpha1-adaptin;clathrin assembly protein complex 2 alpha-A large chain;clathrin-associated/assembly/adaptor protein, large, alpha 1;plasma membrane adaptor HA2/AP2 adaptin alpha A subunit APPROVED protein-coding ENSG00000196961 HGNC:561 03016 601026 REVIEWED 1354372 AP1M2 adaptor-related protein complex 1, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 19 19 19 p13.2 10578090 10592733 - 10683347 10697991 - 10572671 10587315 - 1580863;6480464;8554872 10338135;10535737;10640811;10887964;11031247;11157985;11222723;11252894;11573956;11694590;12010461;12086608;12134076;12477932;14702039;15182197;15489334;15569716;16189514;16343431;16574660;17145811;17207965;17220478;17261850;17381423;18356317;21048031;21139048;21163940;21762802;21890473;21906983;23000965;23077317;23705972;23956138;7569928;8125298;8810314;9714795;9794796;9882340 10053 K7EJJ1;K7EK69;K7EL08;K7EMG5;K7EPI9;K7EPR4;K7ERH5;Q9Y6Q5 ABBA01029910;ABBA01029911;ABBA01029912;AC011475;AF020797;AK023863;AK222946;AK315689;AMYH02035499;AW370781;BC003387;BC003612;BC005021;BE044092;CH471106;NM_001300887;NM_005498;XM_005259701 AAD25870;AAH03387;AAH03612;AAH05021;ADQ31755;BAD96666;BAG38052;BAG51230;EAW84124;EAW84125;NP_001287816;NP_005489;Q9Y6Q5;XP_005259758 Hs.18894 1653301;1699356;2109041;2181521 AP1M2_9035;D18S389;RH103265;STS-R00451 AP1-mu2;HSMU1B;MU-1B;MU1B;mu2 AP-1 complex subunit mu-2;AP-mu chain family member mu1B;HA1 47 kDa subunit 2;adaptor protein complex AP-1 mu-2 subunit;adaptor protein complex AP-1 subunit mu-2;adaptor-related protein complex 1 mu-2 subunit;adaptor-related protein complex 1 subunit mu-2;clathrin assembly protein complex 1 medium chain 2;clathrin assembly protein complex 1 mu-2 medium chain 2;clathrin coat assembly protein AP47 2;clathrin coat associated protein AP47 2;clathrin-associated adaptor medium chain mu2;golgi adaptor AP-1 47 kDa protein;golgi adaptor HA1/AP1 adaptin mu-2 subunit;mu-adaptin 2;mu1B-adaptin APPROVED protein-coding ENSG00000129354 HGNC:558 06296 607309 REVIEWED 1323403 AP1S3 adaptor-related protein complex 1, sigma 3 subunit This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 2 2 2 q36.1 218385952 218468228 - 224616403 224702319 - 223755330 223837602 - 1580863;6480464;8554872 11031247;11222723;11252894;11463741;11598180;11694590;12477932;12486136;12836198;15489334;15569716;15681409;16253302;20379614;2040623;21762802;21906983;21988832;23077317;23575750;23678182;23705972;24791904;9736718;9811606;9811611;9882340 130340 B8ZZZ1;C9JZK4;F8W8K9;G5E966;Q96PC3 ABBA01023786;ABBA01023787;ABBA01023788;ABBA01023789;ABBA01023790;ABBA01023791;ABBA01023792;AC012512;AC093884;AF393369;AK025338;AK299026;AMYH02005878;BC009606;BC021898;BE856458;BG177582;BG340480;CH471063;NG_034017;NM_001039569;NR_110905;NR_110906 AAH09606;AAH21898;AAL09586;AAY24166;AAY24244;BAG61103;EAW70813;EAW70814;EAW70815;EAW70816;NP_001034658;Q96PC3 Hs.632555 1337160;1337768;1659300;1759557;5015861;5015961;5016478;5020881;5020946;5022322;5022578;5037552;5109362;7185938 D10S16;D11S2560;D15S1477;D17S1239;D1S1423;D2S133;D2S2228;D8S2279;G16350;GDB:434012;L17709;L17971;SHGC-150747 AP-1 complex subunit sigma-3;OTTHUMP00000164217;OTTHUMP00000213995;OTTHUMP00000229293;adapter-related protein complex 1 sigma-1C subunit;adapter-related protein complex 1 subunit sigma-1C;adaptor protein complex AP-1 sigma-1C subunit;adaptor protein complex AP-1 subunit sigma-1C;adaptor-related protein complex 1 subunit sigma-1C;clathrin assembly protein complex 1 sigma-1C small chain;golgi adaptor HA1/AP1 adaptin sigma-1C subunit;sigma 1C adaptin;sigma 1C subunit of AP-1 clathrin;sigma-adaptin 1C;sigma1C-adaptin protein-coding HGNC:18971 16495 615781 REVIEWED 1316969 AP1M1 adaptor-related protein complex 1, mu 1 subunit The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 16210670 16249248 + 16308665 16346156 + 16197854 16235345 + 1580863;6480464;6484113 10535737;10747088;10809756;10814565;10887964;11031247;11106728;11157985;11208076;11222723;11247301;11252894;11463741;11583591;11591131;11598115;11694590;12010461;12477932;12486136;12836198;14608369;14691137;14702039;15174051;15182197;15254094;15489334;15569716;15681409;16189514;16253302;17538020;17581864;17988225;18057255;18073204;18336259;19056867;19060904;19149577;19841138;19946888;20012524;20020046;20594957;20833140;21139048;21762802;21841072;21890473;21906983;21917951;22004035;22103831;22190034;22301137;22505724;22705789;22767237;22797925;22863883;22939629;23000965;23077317;23478262;23678182;23705972;23956138;24250222;24778252;24797263;24816145;25027693;7569928;7593184;8810314;8889548;9052838;9314527;9400603;9564030;9586638;9653655;9736718;9811606;9811611;9812899;9882340 8907 B3KNH5;B4DDG7;E7ENJ6;K7EJL1;K7ENA7;K7EPJ8;K7EQ90;K7EQX3;K7ER75;Q59EK3;Q9BXS5 AB209808;ABBA01051134;ABBA01051135;ABBA01051136;AC020911;AF290613;AK027528;AK293188;AK297824;AMYH02035673;AMYH02035674;AMYH02035675;BC017469;BQ014582;BU729646;CH471106;DC386056;DQ059565;NM_001130524;NM_032493 AAH17469;AAK28024;AAY54246;BAD93045;BAG51337;BAG56728;BAG60161;EAW84539;EAW84540;NP_001123996;NP_115882;Q9BXS5 Hs.71040 2144367;2144597;5093170 A009I07;G32561;RH15920 AP47;CLAPM2;CLTNM;MU-1A AP-1 complex subunit mu-1;AP-mu chain family member mu1A;HA1 47 kDa subunit;adapter-related protein complex 1 subunit mu-1;adaptor protein complex AP-1 mu-1 subunit;adaptor protein complex AP-1 subunit mu-1;adaptor-related protein complex 1 mu-1 subunit;adaptor-related protein complex 1 subunit mu-1;clathrin adaptor protein AP47;clathrin assembly protein complex 1 medium chain 1;clathrin assembly protein complex 1 mu-1 medium chain 1;clathrin assembly protein complex 1, medium chain;clathrin assembly protein complex AP1, mu subunit;clathrin coat assembly protein AP47;clathrin coat-associated protein AP47;golgi adaptor AP-1 47 kDa protein;golgi adaptor HA1/AP1 adaptin mu-1 subunit;mu-adaptin 1;mu1A-adaptin APPROVED protein-coding ENSG00000072958 HGNC:13667 04639 603535 REVIEWED 735567 AP2A2 adaptor-related protein complex 2, alpha 2 subunit ENCODES a protein that exhibits protein kinase binding (ortholog); INVOLVED IN antigen processing and presentation of exogenous peptide antigen via MHC class II (inferred); axon guidance (inferred); endocytosis (inferred); PARTICIPATES IN endocytosis pathway; Huntington disease pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN clathrin adaptor complex (inferred); clathrin-coated endocytic vesicle membrane (inferred); coated pit (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; diazinon; elemental selenium 11 11 11 p15.5 993301 1080635 + 925809 1012245 + 925809 1012245 + 1580863;6480464;6907045;8554872 10048485;10430869;10477754;10567358;10608806;10748223;10809762;10910768;10966473;11157096;11247302;11470803;11707398;12036598;12057195;12086608;12168954;12477932;14530274;14702039;15020715;15231748;15489334;16055064;16103193;16139856;16902404;17052248;17108326;17203073;17210199;17581864;17620599;18032517;18362181;19129443;19359243;19380743;19738201;19802344;20012524;2014052;20594957;20811636;20965945;21139048;21762802;21832049;21890473;21906983;21963094;22103831;22323290;22360420;22939629;22952844;23077317;23383273;23398456;23705972;23956138;24162737;24255178;24332808;24797263;24816145;25027693;2564002;8125298;8552632;8617812;8662627;8889548;9049247;9195986;9280305;9700202;9723620;9882340 161 E9PNC4;E9PPY8;E9PPZ3;E9PQP4;E9PR62;E9PS94;H0YDE9;H0YEG0;O94973 AB020706;AB209422;ABBA01015215;ABBA01015216;ABBA01015217;ABBA01015218;AC208587;AC226006;AC239872;AF049527;AK001986;AK027640;AK027891;AK075497;AK094496;AK095725;AK223558;AK293763;AK299364;AL117614;AMYH02024155;AMYH02024156;AMYH02024157;AP006477;AP006623;BC006155;BG705558;BI462785;BU735076;CH471158;DB461570;NM_001242837;NM_012305;XM_006718159;XM_006718160;XR_242779 AAC27505;AAH06155;ABM84367;ABM87778;BAA74922;BAB55435;BAC11653;BAD92659;BAD97278;BAG50999;BAH11590;BAH13015;CAB56015;EAX02416;EAX02417;EAX02418;EAX02419;NP_001229766;NP_036437;O94973;XP_006718222;XP_006718223 Hs.19121 1648133;1671317;1709554;2161069;5014051;5022200;5022651;5024039;5037552 D11S2921;D16S325;D8S2278;D8S2279;G09846;L18426;RH48949;SHGC-81865;STS-W67158 CLAPA2;FLJ37177;HIP-9;HIP9;HYPJ 100 kDa coated vesicle protein C;ADTAB;AP-2 complex subunit alpha-2;Huntingtin interacting protein J;OTTHUMP00000230509;OTTHUMP00000230600;OTTHUMP00000230602;adapter-related protein complex 2 alpha-2 subunit;adapter-related protein complex 2 subunit alpha-2;adaptin, alpha B;adaptor protein complex AP-2 subunit alpha-2;adaptor protein complex ap-2, alpha 2 subunit;adaptor-related protein complex 2 subunit alpha-2;alpha-adaptin C;alpha2-adaptin;clathrin assembly protein complex 2 alpha-C large chain;clathrin-associated/assembly/adaptor protein, large, alpha 2;huntingtin yeast partner J;huntingtin-interacting protein 9;huntingtin-interacting protein J;plasma membrane adaptor HA2/AP2 adaptin alpha C subunit protein-coding ENSG00000183020 HGNC:562 06256 607242 VALIDATED 732482 AP2S1 adaptor-related protein complex 2, sigma 1 subunit One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 19 19 19 q13.2-q13.3 44145679 44158458 - 47341423 47354203 - 46838166 46850946 - 1580863;737778;6480464;6907045;7240710;8554872;8699517 9466969 10567358;10753805;11157096;12086608;12477932;12577067;15020715;15489334;16055064;16103193;16139856;17108326;17210199;17353931;19380743;19738201;20012524;2014052;2040623;21139048;21762802;21890473;21906983;21963094;21987572;21988832;22505724;22623428;23000965;23077317;23151229;23222959;23751493;23874206;24423332;24708097;24731014;24797263;24816145;2495531;7593184;9040778;9767099;9882340 1175 M0QYZ2;M0QZ21;M0R0N4;M0R1S0;P53680;X6R390 ABBA01040989;ABBA01040990;AC008622;AC008895;AC098794;AI139089;AJ010148;AJ010149;AJ713543;AK312003;AMYH02036237;BC006337;BF970609;BG282225;BI561502;BQ221562;BQ684675;BU564736;CA454481;CB108423;CH471126;DB472500;H46780;NG_033136;NM_001301076;NM_001301078;NM_001301081;NM_004069;NM_021575;X97074;XM_005258499;XM_005258500;XM_006723004 AAH06337;ADZ15785;BAG34941;CAA09018;CAA09019;CAA65782;EAW57448;EAW57449;NP_001288005;NP_001288007;NP_001288010;NP_004060;NP_067586;P53680;XP_005258556;XP_005258557;XP_006723067 Hs.119591 1653053;1685874;1725569;1847336 G62010;RH47043;RH80522;STS-X97074 AP17;AP17-DELTA;CLAPS2;FBH3;FBHOk;HHC3 AP-2 complex subunit sigma;HA2 17 kDa subunit;adapter-related protein complex 2 sigma subunit;adapter-related protein complex 2 subunit sigma;adaptor protein complex AP-2 subunit sigma;adaptor-related protein complex 2 subunit sigma;clathrin assembly protein 2 sigma small chain;clathrin assembly protein 2 small chain;clathrin coat assembly protein AP17;clathrin coat-associated protein AP17;clathrin-associated/assembly/adaptor protein, small 2 (17kD);hypocalciuric hypercalcemia 3 (Oklahoma type);plasma membrane adaptor AP-2 17 kDa protein;sigma2-adaptin APPROVED protein-coding ENSG00000042753 HGNC:565 03762 600740;602242 REVIEWED 1350921 AP2M1 adaptor-related protein complex 2, mu 1 subunit This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q28 182334345 182343591 + 183892634 183901879 + 184174846 184184091 + 6480464;6484113;6907045 10567358;10593987;10747088;10814565;10887964;10910768;11031247;11157096;11222723;11247302;11285224;11454741;11583591;11591131;11742978;12010461;12032142;12057195;12086608;12421765;12477932;12577067;12621057;12644451;12646615;12952941;15020715;15182197;15254094;15489334;15604093;15611114;15647482;15778375;15911768;15916959;16055064;16103193;16116206;16139856;16189514;16263766;16498080;16501101;16713569;16723738;16880396;16902404;17108326;17108328;17210199;17220478;17267500;17289840;17290396;17666399;17984062;18032517;18056411;18187620;18474601;18523139;18524831;18596106;19056867;19380743;19419997;19478868;19578796;19581412;19738201;19895210;19903820;20012524;20029029;2014052;20186120;20360068;20368287;20485680;20639872;20965945;21078624;21139048;21145461;21182205;21762802;21890473;21906983;21963094;21987572;21988832;22004035;22082156;22103831;22323290;22363329;22472876;22623428;22797925;22916011;23000965;23077317;23125841;23529131;23751493;23864651;23874206;23891661;23956138;24040105;24250222;24797263;24816145;7569928;7593184;7788527;7989329;8257432;8491205;8595912;9013859;9200449;9256472;9400603;9571248;9651214;9812899;9882340 1173 C9JGT8;C9JJ47;C9JJD3;C9JPV8;C9JTK4;E9PFW3;H7C4C3;Q96CW1 ABBA01058455;AC131235;AK057883;AK294159;AK295999;AK297578;AK297849;AK300228;AK304510;AK310409;AMYH02008301;BC004996;BC013796;BC014030;BI461415;BT007308;CH471052;D63475;FB336127;HH767466;NM_001025205;NM_004068;U36188 AAA93254;AAH04996;AAH13796;AAH14030;AAP35972;ABM83802;ABM86841;BAA09762;BAG57482;BAG58773;BAG60181;BAG61996;BAG65316;BAH12618;CAR81017;CBX84495;EAW78290;EAW78291;EAW78292;NP_001020376;NP_004059;Q96CW1 Hs.518460 1670513;1673534;1676212;1735168;1775349;1776302;1858134;2107837;2115021;2116456;2191019 AP2M1_8258;D3S2818E;IB1255;IB397;MARC_13450-13451:1002298269:1;RH92621;SHGC-7485;SHGC-77602;SHGC-77604;STS-R80399;UTR-04950 AP50;CLAPM1;mu2 AP-2 complex subunit mu;AP-2 mu 2 chain;AP-2 mu chain;HA2 50 kDA subunit;OTTHUMP00000210694;OTTHUMP00000210695;OTTHUMP00000210696;OTTHUMP00000210697;OTTHUMP00000210701;adapter-related protein complex 2 mu subunit;adapter-related protein complex 2 subunit mu;adaptin-mu2;adaptor protein complex AP-2 subunit mu;adaptor-related protein complex 2 subunit mu;clathrin adaptor complex AP2, mu subunit;clathrin assembly protein complex 2 medium chain;clathrin assembly protein complex 2 mu medium chain;clathrin coat adaptor protein AP50;clathrin coat assembly protein AP50;clathrin coat-associated protein AP50;clathrin-associated/assembly/adaptor protein, medium 1;plasma membrane adaptor AP-2 50 kDa protein;plasma membrane adaptor AP-2 50kDA protein APPROVED protein-coding ENSG00000161203 HGNC:564 03014 601024 REVIEWED 1319021 AP3B2 adaptor-related protein complex 3, beta 2 subunit Adaptor protein-3 (AP3) is a heterotetrameric vesicle-coat protein complex. Some AP3 subunits are ubiquitously expressed, whereas others are expressed exclusively in neurons. The neuron-specific AP3 complex, which includes AP3B2, is thought to serve neuron-specific functions such as neurotransmitter release (Grabner et al., 2006 [PubMed 16788073]).[supplied by OMIM, Mar 2008] 15 15 15 q 61202181 61252080 + 83328033 83378660 - 82659281 82709908 - 1580863;6480464 10930456;11877451;12477932;12565890;14702039;15489334;16788073;17453999;17620599;18029348;18076669;1851215;19481122;20467438;20531441;23118302;23305486;24816145;7671305;9118953;9545220;9707615 8120 F5GWU4;F5GYB0;H0YH30;Q13367 ABBA01029418;ABBA01029419;ABBA01029420;ABBA01029421;ABBA01029422;ABBA01029423;AC105339;AF022152;AK097827;AK294331;AMYH02030910;AMYH02030911;AMYH02030912;AMYH02030913;BC008350;BC026700;BC035640;BC093739;BC143342;BC143346;BI914720;BQ777385;CH471188;CR749860;DQ092369;FJ695193;NM_001278511;NM_001278512;NM_004644;U37673;XM_006720704;XM_006720705;XM_006720706 AAB71894;AAC50219;AAH93739;AAI43343;AAI43347;AAZ38147;BAG53536;BAG57603;CAH18704;EAW62447;NP_001265440;NP_001265441;NP_004635;Q13367;XP_006720767;XP_006720768;XP_006720769 Hs.199593 1768258;1846633;2139561 RH66690;WI-21100;WI-22674 DKFZp686D17136;NAPTB AP-3 complex subunit beta-2;Neuronal adaptin-like protein, beta-subunit;OTTHUMP00000237554;OTTHUMP00000237555;OTTHUMP00000237556;adapter-related protein complex 3 subunit beta-2;adaptor protein complex AP-3 subunit beta-2;adaptor-related protein complex 3 subunit beta-2;beta-3B-adaptin;clathrin assembly protein complex 3 beta-2 large chain;neuron-specific vesicle coat protein beta-NAP APPROVED protein-coding ENSG00000103723 HGNC:567 03699 602166 VALIDATED 734047 AP2B1 adaptor-related protein complex 2, beta 1 subunit The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q11.2-q12 30824398 30963574 + 33913918 34053436 + 35586899 35726417 + 6480464;6907045 10097102;10567358;10748223;10944104;10966473;11157096;11170396;11285224;11463741;11777907;12070169;12086608;12221107;12419313;12429842;12429846;12477932;12577067;12732633;12900408;14530274;15020715;15489334;15533940;15592455;15761153;15897975;16055064;16103193;16139856;16189514;16314522;16581796;16903783;17052248;17108326;17210199;17267500;17290217;17353931;17620599;18654987;18781797;18843039;19149577;19380743;19469909;19509056;19615732;1969413;19738201;19802344;19903820;19946888;20012524;2014052;20360068;20594957;20936779;20965945;21118812;21139048;21145461;21252943;21762802;21890473;21906983;21963094;21987572;22103831;22139419;22323290;22360420;22558309;22586326;22623428;22632162;22678362;22863883;23000965;23077317;23705972;23751493;23862649;23874206;23956138;24332808;24654937;24722188;24797263;24816145;25027693;25061211;8262066;8595912;9341158;9384576;9651214;9707615;9811611;9882340 163 K7EJ01;K7EJX1;K7EKZ5;K7EMN7;K7EN71;K7ERB2;P63010;Q96EL6 ABBA01011230;ABBA01011231;ABBA01011232;ABBA01011233;ABBA01011234;AC004134;AC006237;AC015911;AI691147;AK289528;AK292531;AK295667;AK301522;AK304126;AMYH02033350;AMYH02033351;AY341427;BC006201;BC012150;BQ421703;BX643620;CH471147;CR749392;KF456264;KF456265;M34175;NM_001030006;NM_001282;XM_005257937;XM_005257938;XM_005257941 AAA35583;AAH06201;AAH12150;AAQ20044;ABM84208;ABM87612;BAF82217;BAF85220;BAG58527;BAG63026;BAG65023;CAH18240;EAW80133;EAW80134;EAW80135;EAW80136;EAW80137;EAW80138;EAW80139;EAW80140;EAW80141;EAW80142;NP_001025177;NP_001273;P63010;XP_005257994;XP_005257995;XP_005257998 Hs.514819 1654301;1657567;1674652;1721585;1729233;2118925;2128032;2129493;2144472;2170233;2180156;2186017;2190777;2191675;5127569;5491942 AP2B1-1;CLAPB1;D17S1669;D17S1690;D17S2061;G59802;G62209;IB756;MARC_4629-4630:966894533:1;RH12574;RH47464;SGC44707;SHGC-52481;SHGC-57242;STS-W92018;WI-18136 ADTB2;AP105B;AP2-BETA;CLAPB1;DKFZp781K0743 AP-2 complex subunit beta;adapter-related protein complex 2 beta subunit;adapter-related protein complex 2 subunit beta;adaptin, beta 2 (beta);adaptor protein complex AP-2 subunit beta;adaptor-related protein complex 2 subunit beta;beta-2-adaptin;beta-adaptin;clathrin assembly protein complex 2 beta large chain;clathrin-associated/assembly/adaptor protein, large, beta 1;plasma membrane adaptor HA2/AP2 adaptin beta subunit APPROVED protein-coding ENSG00000006125 HGNC:563 03015 601025 REVIEWED 1314226 AP1S1 adaptor-related protein complex 1, sigma 1 subunit The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 95806042 95812913 + 100797685 100804557 + 101154405 101161276 + 6480464;7240710;8699517;8554872 10535737;10747088;10966473;11031247;11222723;11252894;11463741;11694590;11707398;12215646;12477932;12486136;12836198;12853948;15469849;15489334;15569716;15681409;16253302;16548883;17353931;18336259;18781797;19057675;19149577;19895210;19946888;2040623;20594957;21139048;21762802;21906983;21963094;21987572;22103831;22939629;23000965;23077317;23423674;23678182;23956138;24250222;24797263;7593184;9653655;9733768;9736718;9811606;9811611;9847074;9882340 1174 H7C1E4;P61966 AB015319;ABBA01011349;AC004876;AK312151;AMYH02016400;BC003561;BI597121;BI598615;BI857465;BT006779;CH471197;NG_033082;NM_001283 AAD45829;AAH03561;AAP35425;BAA33391;BAG35085;EAW50198;EAW50199;EAW50200;NP_001274;P61966 Hs.489365 2127513 RH71410 AP19;CLAPS1;EKV3;FLJ92436;SIGMA1A;WUGSC:H_DJ0747G18.2 AP-1 complex subunit sigma-1A;HA1 19 kDa subunit;MEDNIK;OTTHUMP00000211467;OTTHUMP00000211468;OTTHUMP00000211469;adapter-related protein complex 1 sigma-1A subunit;adapter-related protein complex 1 subunit sigma-1A;adaptor protein complex AP-1 sigma-1A subunit;adaptor protein complex AP-1 subunit sigma-1A;adaptor-related protein complex 1 subunit sigma-1A;clathrin assembly protein complex 1 sigma-1A small chain;clathrin coat assembly protein AP19;clathrin-associated/assembly/adaptor protein, small 1 (19kD);erythrokeratodermia variabilis 3 (Kamouraska type);golgi adaptor HA1/AP1 adaptin sigma-1A subunit;sigma 1a subunit of AP-1 clathrin;sigma-adaptin 1A;sigma1A subunit of AP-1 clathrin adaptor complex;sigma1A-adaptin APPROVED protein-coding ENSG00000106367 HGNC:559 04635 603531;609313 REVIEWED 1318559 AP3D1 adaptor-related protein complex 3, delta 1 subunit The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 19 19 19 p13.3 2035746 2085826 - 2100987 2151556 - 2100988 2151620 - 1580863;6480464 10559961;10814565;11331585;11926829;12477932;12486136;12853575;12967569;14657250;14702039;15057824;15469849;15489334;15681409;15766529;16162817;16457822;17081983;17210199;17349999;17620599;17897319;18034776;18076669;18775314;19481122;19851296;19946888;20012524;20198315;20379614;20594957;21139048;21841072;21890473;21963094;22004035;22103831;22363329;22705971;22833563;22863883;22875976;22939629;22952844;23125841;23305486;24797263;24816145;25027693;8889548;9151686;9182526;9303295;9482728;9697856 8943 K7ELX8;K7ERW8;O14617 AB208804;ABBA01002710;AC005257;AC005328;AC005545;AF002163;AF130042;AK094460;AK128692;AK310099;AK315899;AMYH02035184;AY954498;BC005142;BC010065;BC022837;BM982261;BQ227203;CH471139;NM_001261826;NM_003938;U91930;XM_006722932 AAC25623;AAC27670;AAC34212;AAC34214;AAC51761;AAD03777;AAG35473;AAH05142;AAH10065;ADZ15549;BAD92041;BAF98790;BAG52868;EAW69412;EAW69416;NP_001248755;NP_003929;O14617;XP_006722995 Hs.512815 1676744;1683805;1789358;2131775;2186790;2186792 A002D02;G19943;G67894;RH93528;SHGC-23975;WI-19632 ADTD;hBLVR AP-3 complex delta subunit, partial CDS;AP-3 complex subunit delta;AP-3 complex subunit delta-1;adapter-related protein complex 3 subunit delta-1;adaptin, delta;adaptor-related protein complex 3 subunit delta-1;delta adaptin;delta-adaptin, partial CDS;subunit of putative vesicle coat adaptor complex AP-3 APPROVED protein-coding ENSG00000065000 HGNC:568 06260 607246 VALIDATED 734238 AP3M1 adaptor-related protein complex 3, mu 1 subunit The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 10 10 10 q22.2 69165286 69196141 - 75880015 75910826 - 74120257 74151068 - 1580863;6480464 10024875;10737800;10814565;11071902;11463741;11742978;11827452;12477932;12853575;14702039;15254094;15342556;15489334;15681409;16385451;17897319;18076669;19116314;19481122;19615732;20012524;20594957;21139048;21890473;21963094;22103831;22797925;22833563;22863883;22875976;22952844;23000965;23305486;23404500;23704328;24797263;8889548;9182526;9482728;9714600;9794796 26985 B4DRN6;Q8NDP0;Q9Y2T2 ABBA01020295;AC012046;AC022026;AC022540;AC091699;AF092092;AI610802;AK001565;AK026983;AK299352;AK315597;AL133610;AL357037;AL731576;AL833820;AMYH02023344;AMYH02023345;AV722897;AW069033;BC026232;BC067127;BE706537;BM463185;BP230128;BU172918;BU430175;BU679701;CH471083;FB336129;HH767468;NM_012095;NM_207012;XM_006717763;XM_006717764 AAD20446;AAH26232;AAH67127;ABM84038;ABM87385;ABW03569;BAB15614;BAG61348;CAD38682;CAR81018;CBX84496;EAW54552;EAW54553;EAW54554;NP_036227;NP_996895;Q9Y2T2;XP_006717826;XP_006717827 Hs.500104 2166027;2173597;5015961;5037552 D10S2342;D15S1477;D8S2279;WI-11846 MGC22164;RP11-178G16.4 AP-3 adapter complex mu3A subunit;AP-3 adaptor complex mu3A subunit;AP-3 complex subunit mu-1;OTTHUMP00000019859;OTTHUMP00000019860;adapter-related protein complex 3 mu-1 subunit;adapter-related protein complex 3 subunit mu-1;adaptor-related protein complex 3 subunit mu-1;adaptor-related protein complex ap-3, mu 1 subunit;clathrin adaptor complex AP3, mu-3A subunit;mu-adaptin 3A;mu3A-adaptin APPROVED protein-coding ENSG00000185009 HGNC:569 16496 610366 REVIEWED 1321051 AP3B1 adaptor-related protein complex 3, beta 1 subunit This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012] 5 5 5 q14.1 73192009 73483332 - 77298150 77590579 - 78002326 78294755 - 1580863;1578409;6480464;7240710;8554872;8699517 12125811 10024875;11809908;11877451;11926829;12062430;12419313;12477932;14657250;15489334;16112646;16344560;16537806;16551969;17081983;17353931;17569884;17622474;17897319;17975119;18000860;18076669;18410487;18781797;19023099;19246570;19320733;19481122;19679886;19841138;19913121;19934039;19946888;20133826;20301464;20379614;20628086;21139048;21890473;21901158;21906983;22863883;22875976;22939629;22952844;23000965;23144738;24250222;24816145;8125298;8413179;9151686;9182526;9545220;9931340 8546 H0YBD0;O00203 ABBA01061990;ABBA01061991;ABBA01061992;ABBA01061993;ABBA01061994;AC024568;AC024578;AC104108;AC112197;AF247736;AK225908;AK291201;AK303300;AL708147;AMYH02011625;AMYH02011626;AMYH02011627;AY623424;BC020230;BC038444;BX538041;CH471084;DA889915;NG_007268;NM_001271769;NM_003664;U81504;U91931;XM_005248618;XM_005248619 AAB61638;AAD03778;AAG01739;AAH38444;AAT49048;ABM85841;ABW03740;BAF83890;BAG64374;CAD97982;EAW95811;EAW95812;EAW95813;NP_001258698;NP_003655;O00203;XP_005248675;XP_005248676 Hs.532091 1646877;1654848;1705370;1709526;1728085;1785706;2109045;2146083;5122050 1842;A002S29;AP3B1_8826;G63314;L31442;RH16414;SHGC-79370;SHGC-81837;SHGC-83541 ADTB3;ADTB3A;HPS;HPS2;PE AP-3 complex beta-3A subunit;AP-3 complex subunit beta-1;OTTHUMP00000133884;OTTHUMP00000222448;adapter-related protein complex 3 subunit beta-1;adaptor protein complex AP-3 subunit beta-1;adaptor-related protein complex 3 subunit beta-1;beta-3A-adaptin;beta3A-adaptin;clathrin assembly protein complex 3 beta-1 large chain APPROVED protein-coding ENSG00000132842 HGNC:566 04551 603401;608233 REVIEWED 1350010 AP3S2 adaptor-related protein complex 3, sigma 2 subunit ENCODES a protein that exhibits protein transporter activity (inferred); INVOLVED IN anterograde axon cargo transport (ortholog); anterograde synaptic vesicle transport (ortholog); FOUND IN AP-3 adaptor complex; INTERACTS WITH copper(2+) sulfate; isotretinoin; pirinixic acid 15 15 15 q26.1 66776618 66840633 - 90373831 90437617 - 89830599 89894385 - 1580863;6480464 11907283;11926829;12019270;12477932;12967569;14702039;15469849;15489334;16344560;18076669;20012524;20966410;21139048;21874001;21906983;21963094;21987572;21988832;22505724;23945395;8125298;9118953;9182526 10239 H0YKM3;H0YLI7;H0YLX6;H0YN38;H0YNI6;P59780 ABBA01053027;ABBA01053028;ABBA01053029;AC018988;AC027176;AK222698;AK294712;AK312467;AL109702;AL110108;AMYH02031028;AMYH02031029;AW402906;BC002785;BC007773;BC010020;BC010615;BX098014;CH471101;DA268327;DA337392;DA464242;DA752479;DA777624;DB322370;DC340463;DC410373;DR158459;NM_005829;NR_023361;NR_037582;X99459 AAH02785;AAH07773;AAH10020;ABM83908;ABM87229;BAD96418;BAG35374;BAG57864;CAA67824;EAX02071;EAX02072;EAX02073;EAX02074;EAX02075;NP_005820;P59780 Hs.632161 1336932;1767579;2112970;2161595;2165051;2183352;5016851;5022200;5022578;5022651;5037552 D11S2921;D15S1443E;D15S526;D1S1423;D8S2279;G17841;L18426;RH11326;RH80031;WI-15468;WI-20835 AP3S3;FLJ35955;sigma3b AP-3 complex sigma-3B subunit;AP-3 complex subunit sigma-2;AP-3 complex subunit sigma-3B;OTTHUMP00000194687;adapter-related protein complex 3 sigma-2 subunit;adapter-related protein complex 3 subunit sigma-2;adaptor complex sigma3B;adaptor-related protein complex 3 subunit sigma-2;clathrin-associated/assembly/adaptor protein, small 4, 22-kD;sigma-3B-adaptin;sigma-adaptin 3b;sigma3B-adaptin protein-coding ENSG00000157823 HGNC:571 03880 602416 VALIDATED 1321485 AP4B1 adaptor-related protein complex 4, beta 1 subunit This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 1 p13.2 112666893 112676965 - 114437370 114447741 - 113894748 113905119 - 1580863;6480464;8699517;7240710;8554872 10066790;10436028;11409905;12419313;12477932;14702039;15489334;16710414;17353931;20301682;21139048;21906983;21963094;22290197;22797925;23251661;23535729 10717 B1ALD0;B1ALD1;B1ALD2;B1ALD3;B4DTG3;Q9Y6B7 AB209817;ABBA01068458;AF092094;AK001045;AK057567;AK093740;AK298037;AK300204;AK314641;AL137856;AMYH02001778;AW072594;BC014146;BG718098;CH471122;DC299853;DC367373;DC390197;NG_031901;NM_001253852;NM_001253853;NM_006594;XM_005270381;XM_005270382;XR_246227;XR_246228 AAD20448;AAH14146;ADZ15510;BAD93054;BAG37203;BAG52756;BAG61975;BAH12709;EAW56578;EAW56579;EAW56580;EAW56581;NP_001240781;NP_001240782;NP_006585;Q9Y6B7;XP_005270438;XP_005270439 Hs.515048 1645401;2218996;5037552 AP4B1__4336;D8S2279;SHGC-75343 BETA-4;CPSQ5;SPG47 AP-4 adapter complex subunit beta;AP-4 adaptor complex subunit beta;AP-4 complex subunit beta-1;OTTHUMP00000013725;OTTHUMP00000013726;OTTHUMP00000013730;adapter-related protein complex 4 subunit beta-1;adaptor-related protein complex 4 subunit beta-1;beta 4 subunit of AP-4;beta subunit of AP-4;beta4-adaptin;spastic paraplegia 47 APPROVED protein-coding ENSG00000134262 HGNC:572 06259 607245;614066 REVIEWED 1322400 AP3S1 adaptor-related protein complex 3, sigma 1 subunit ENCODES a protein that exhibits protein transporter activity (inferred); INVOLVED IN anterograde axon cargo transport (ortholog); anterograde synaptic vesicle transport (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN AP-3 adaptor complex; INTERACTS WITH (+)-catechin; 5-fluorouracil; arsenous acid 5 5 5 q22 111126032 111198189 + 115177303 115249778 + 115841606 115914081 + 1580863;6480464;8554872 12370188;12477932;12967569;14657250;14702039;15469849;15489334;16162817;18076669;19322201;20379614;20512086;21139048;21890473;21906983;21963094;22505724;22863883;22875976;22939629;22990118;23000965;23125841;24797263;8697810;9118953;9151686;9792713 1176 F5H459;Q92572 ABBA01069029;AC010282;AC026449;AK124911;AK126876;AK311843;AMYH02012009;AMYH02012010;BC000804;BC012614;BI600357;BT009833;BX647735;CH471086;CR450341;D63643;KC877080;NM_001284;U91932;X99458;XM_005271872 AAD03779;AAH00804;AAP88835;ABM82124;ABM85307;BAA09798;BAG34785;CAA67823;CAG29337;EAW48952;EAW48953;NP_001275;Q92572;XP_005271929 Hs.406191 1719661;1780868;1780910;1792860;5106465 PMC166143P2;RH123522;WI-11812;bac53103T;bac53227T CLAPS3;Sigma3A AP-3 complex sigma-3A subunit;AP-3 complex subunit sigma-1;AP-3 complex subunit sigma-3A;OTTHUMP00000159125;OTTHUMP00000236881;adapter-related protein complex 3 sigma-1 subunit;adapter-related protein complex 3 subunit sigma-1;adaptor-related protein complex 3 subunit sigma-1;clathrin-associated/assembly/adapter protein, small 3;clathrin-associated/assembly/adaptor protein, small 3 (22kD);sigma-3A-adaptin;sigma-adaptin 3a;sigma3A-adaptin protein-coding HGNC:2013 03298 601507 VALIDATED 1343936 AP4E1 adaptor-related protein complex 4, epsilon 1 subunit This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 15 15 15 q21.2 28093991 28191516 + 51200780 51298097 + 50908625 51005900 + 1580863;6480464;8699517;7240710;8554872 10066790;10436028;11409905;11707398;12477932;15174051;15489334;19322201;20301682;20972249;21620353;24816145 23431 B4DM48;H0YK94;H0YK95;H0YL95;Q9UPM8 AB030653;ABBA01039089;ABBA01039090;ABBA01039091;ABBA01039092;AC021752;AC022407;AC073964;AF155156;AI143020;AK297290;AK308644;AL355694;AMYH02030424;AMYH02030425;AMYH02030426;BC015224;BC040044;BC040045;BC126308;BC130466;BC144025;BC144030;CH471082;CR627314;CR749604;NG_031875;NM_001252127;NM_007347;XM_005254264;XM_006720447 AAD43326;AAI26309;AAI30467;ADR83286;BAA82969;BAG59760;CAH18399;EAW77411;NP_001239056;NP_031373;Q9UPM8;XP_005254321;XP_006720510 Hs.413366 1656274;1687964;1755951;2106425;2118711;5015961 AP4E1__4337;D15S1477;G41300;RH93797;SHGC-142770;STS-AA018409 CPSQ4;DKFZp686L12167;SPG51 AP-4 adapter complex subunit epsilon;AP-4 adaptor complex subunit epsilon;AP-4 complex subunit epsilon-1;AP-4-EPSILON;adapter-related protein complex 4 subunit epsilon-1;adaptor-related protein complex 4 subunit epsilon-1;adaptor-related protein complex AP-4 epsilon;epsilon subunit of AP-4;epsilon-adaptin APPROVED protein-coding ENSG00000081014 HGNC:573 06258 607244;613744 REVIEWED 6767156 AP4B1-AS1 AP4B1 antisense RNA 1 ASSOCIATED WITH Arthritis, Rheumatoid (inferred); Lupus Erythematosus, Systemic (inferred); Melanoma (inferred) 1 1 1 p13.2 112628485 112673083 + 114399257 114443859 + 113814387 113869962 + 8554872 14702039;16344560 100287722 ABBA01068458;AK123199;AL137856;AMYH02001776;AMYH02001777;AMYH02001778;DB028504;DB074478;HG492456;HG492459;HY043352;NR_037864;NR_125965;XR_425203;XR_425204;XR_426744;XR_426745;XR_431221;XR_431222 Hs.664669 1645401;1685399;5022322;5037552 D11S2560;D8S2279;RH98904;SHGC-75343 RP5-1073O3.5 APPROVED ncrna ENSG00000226167 HGNC:44114 VALIDATED 735940 AP3M2 adaptor-related protein complex 3, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008] 8 8 8 p11.2 40959278 40977658 + 42010464 42028701 + 42152946 42171183 + 1580863;6480464;8554872 12477932;15489334;1602151;17293072;18076669;19481122;20012524;21890473;22952844;23000965;7601449;8076832;9400603 10947 E5RGF3;E5RI83;E5RJ52;E7ER80;H0YAY4;H0YBA0;H0YBM0;P53677 AA854640;ABBA01021151;AC103724;AK315228;AMYH02017889;BC021966;BC056257;BC056398;BI461390;BX648354;BX648390;CH471080;D38293;FB336135;HH767474;NM_001134296;NM_006803;XM_006716276 AAH56257;AAH56398;ACE86863;ACE87551;BAA07415;BAG37657;CAR81021;CBX84499;EAW63236;EAW63237;EAW63238;NP_001127768;NP_006794;P53677;XP_006716339 Hs.654529 1645500;2130069;2138880 A004G41;SGC30244;SHGC-31558 AP47B;CLA20;P47B AP-3 complex subunit mu-2;HA1 47 kDa subunit homolog 2;HA1 47kDA subunit homolog 2;OTTHUMP00000225723;OTTHUMP00000225725;OTTHUMP00000225726;OTTHUMP00000229134;adapter-related protein complex 3 mu-2 subunit;adapter-related protein complex 3 subunit mu-2;adaptor-related protein complex 3 subunit mu-2;clathrin assembly protein assembly protein complex 1 medium chain homolog 2;clathrin assembly protein assembly protein complex 3 mu-2 medium chain;clathrin coat assembly protein AP47 homolog 2;clathrin coat-associated protein AP47 homolog 2;clathrin-associated protein AP47 homolog 2;golgi adaptor AP-1 47 kDA protein homolog 2;mu3B-adaptin APPROVED protein-coding ENSG00000070718 HGNC:570 09801 610469 REVIEWED 1348189 AP4S1 adaptor-related protein complex 4, sigma 1 subunit This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011] 14 14 14 q12 11360171 11428127 + 31494312 31565656 + 31025106 31096450 + 1580863;6480464;8699517;7240710;8554872 10066790;10436028;12477932;14702039;16196087;18624398;20301682;21139048;21620353;21832049;21988832;24250222;24816145 11154 G3V3X7;G3V4P7;G3V5J6;H0YJI3;J3KNK4;Q9Y587 AB030654;ABBA01061408;ABBA01061409;ABBA01061410;ABBA01061411;ABBA01061412;AF155159;AI570549;AK056928;AK098330;AK304115;AK316517;AL049830;AL121808;AMYH02028946;AMYH02028947;AMYH02028948;AMYH02028949;BC001259;BC035622;BF671561;BG702035;BT006701;BX247969;BX388185;CH471078;CR457100;NG_031913;NM_001128126;NM_001254726;NM_001254727;NM_001254728;NM_001254729;NM_007077;R46468;XM_005267293 AAD43329;AAH01259;AAP35347;ABM81633;ABM84817;BAA82970;BAG65016;BAH14888;CAD62307;CAG33381;EAW65953;EAW65954;EAW65955;EAW65956;EAW65957;EAW65958;NP_001121598;NP_001241655;NP_001241656;NP_001241657;NP_001241658;NP_009008;Q9Y587;XP_005267350 Hs.293411 1341096;1677798;1681496;1685754;1772573;1775174;1855191;2124438;2140044;2141448;2167588;2173517;2183929;5016478;5020946;5022651;5024413;5037552;5092638;5109281;5109362 D11S2921;D14S54;D14S911;D14S918;D17S1239;D1S1425;D8S2279;G32231;G35467;G35637;G35699;G35807;G35832;GDB:434012;L17877;L17971;RH66892;RH68330;RH69503;RH99157;SHGC-56780 AP47B;CLA20;CLAPS4;CPSQ6;FLJ32366;FLJ41011;SPG52 AP-4 adapter complex subunit sigma-1;AP-4 adaptor complex subunit sigma-1;AP-4 complex subunit sigma-1;OTTHUMP00000178784;OTTHUMP00000244083;OTTHUMP00000244084;OTTHUMP00000244086;OTTHUMP00000244087;OTTHUMP00000244088;adapter-related protein complex 4 subunit sigma-1;adaptor-related protein complex 4 subunit sigma-1;clathrin-associated/assembly/adaptor protein, sigma 4;sigma-1 subunit of AP-4;sigma-4-adaptin;sigma4-adaptin APPROVED protein-coding ENSG00000100478 HGNC:575 06257 607243;614067 REVIEWED 1345016 AP5S1 adaptor-related protein complex 5, sigma 1 subunit INVOLVED IN double-strand break repair via homologous recombination; endosomal transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN AP-type membrane coat adaptor complex; cytoplasm; late endosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; potassium chromate 20 20 20 p13 3863077 3867828 + 3801171 3805954 + 3820524 3825307 + 6480464;8554872 11780052;12477932;14702039;15489334;16344560;22022230;24250222 55317 A2A2L4;Q5JX74;Q9NUS5 ABBA01053834;AI338486;AK002030;AK093332;AL109804;AMYH02036607;AX878040;BC011985;BC043344;CH471133;CS300639;DA129391;DA253969;DB190907;NM_001204446;NM_001204447;NM_018347 AAH43344;BAA92045;BAG52692;CAE89984;CAK32303;EAX10483;EAX10484;EAX10485;EAX10486;NP_001191375;NP_001191376;NP_060817;Q9NUS5 Hs.104806 1715103 RH119504 C20orf29;FLJ11168;sigma5 AP-5 complex subunit sigma-1;OTTHUMP00000030129;OTTHUMP00000030130;OTTHUMP00000030131;OTTHUMP00000161028;adapter-related protein complex 5 sigma subunit;adaptor-related protein complex 5 sigma subunit;hypothetical protein LOC55317 APPROVED protein-coding ENSG00000125843 HGNC:15875 16649 614824 VALIDATED 1321015 AP4M1 adaptor-related protein complex 4, mu 1 subunit This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 94433789 94439462 + 99699130 99704803 + 100101490 100107180 + 1580863;6480464;7240710;8554872;8699517 10066790;10436028;11139587;11707398;11802162;12477932;12690205;14572453;14702039;15254094;17207965;18341993;19056867;19559397;20301682;21620353;21890473;21906983;21963094;21988832;9013859;9794796 9179 C9IZL5;C9JC87;C9JMG3;C9JWL4;F8WCC5;F8WCR6;F8WDR3;H0Y6K1;H7BZV3;H7C0A0;O00189 ABBA01013238;AC073842;AF020796;AF155158;AK055686;AK293590;AK296651;AK304489;AK315782;AMYH02016371;BC012023;BC018705;BX640759;CH236956;CH471091;DC413622;NG_016312;NM_004722;XM_005250689;XM_005250690;XM_005250691;XM_006716175;Y08387 AAD25869;AAD43328;AAH18705;ADQ32212;BAG57057;BAG59249;BAG65298;CAA69667;CAE45865;EAL23854;EAW76594;EAW76595;EAW76596;EAW76597;NP_004713;O00189;XP_005250746;XP_005250747;XP_005250748;XP_006716238 Hs.632317 1668168;1757283;2141173 RH68321;SHGC-144694;STS-F01487 CPSQ3;MU-4;MU-ARP2;SPG50;mu4 AP-4 adaptor complex mu subunit;AP-4 complex subunit mu-1;OTTHUMP00000206506;OTTHUMP00000206588;OTTHUMP00000206591;OTTHUMP00000206630;OTTHUMP00000206943;OTTHUMP00000206944;adapter-related protein complex 4 mu-1 subunit;adapter-related protein complex 4 subunit mu-1;adaptor-related protein complex 4 subunit mu-1;adaptor-related protein complex AP-4 mu4 subunit;mu subunit of AP-4;mu-adaptin-related protein 2;mu-adaptin-related protein-2;mu4-adaptin APPROVED protein-coding ENSG00000221838 HGNC:574 03803 602296;612936 REVIEWED 1317656 AP5M1 adaptor-related protein complex 5, mu 1 subunit INVOLVED IN endosomal transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN AP-type membrane coat adaptor complex; cytosol; late endosome; INTERACTS WITH 17beta-estradiol; atrazine; benzo[a]pyrene diol epoxide I 14 14 14 q22.3 37785692 37806883 + 57735606 57756797 + 57268888 57290079 + 6480464;8554872 11230166;12477932;14702039;15146197;15489334;16344560;18395520;23665015;24816145;8125298 55745 E7EQ45;G3V3L4;G3V573;H0YIY0;Q9H0R1;S4R311 ABBA01018237;ABBA01018238;AF094583;AK001675;AK172824;AK225345;AK303999;AL136685;AL139195;AL355834;AMYH02029257;BC013174;BQ000414;CH471061;CN352262;DB204683;NM_018229;NR_026895;XM_006720196 AAC78130;AAH13174;BAA91828;BAD18791;BAG64916;CAB66620;EAW80700;EAW80701;EAW80702;EAW80703;NP_060699;Q9H0R1;XP_006720259 Hs.597349 1686366;2141222 RH11331;RH44205 C14orf108;FLJ10813;Mu5;MuD AP-5 complex subunit mu;AP-5 complex subunit mu-1;MHD domain-containing death-inducing protein;MU-2/AP1M2 domain containing, death-inducing;MUDENG;Mu-2 related death-inducing;OTTHUMP00000179018;OTTHUMP00000245791;adapter-related protein complex 5 mu subunit;adapter-related protein complex 5 subunit mu-1;adaptor-related protein complex 5 subunit mu-1;mu-2-related death-inducing protein;putative HIV-1 infection-related protein APPROVED protein-coding HGNC:20192 12630 614368 VALIDATED 1606994 AP5B1 adaptor-related protein complex 5, beta 1 subunit INVOLVED IN endosomal transport; FOUND IN AP-type membrane coat adaptor complex; lysosomal membrane 11 11 11 q13.1 62868693 62872853 - 65541369 65548062 - 65773898 65780591 - 12477932;15146197;16189514;17897319;21139048;21890473;21906983;21963094;21987572;22022230;23825025 91056 Q2VPB7 ABBA01024102;AF193040;AL834269;AMYH02024963;AP001266;BC004895;BC017264;BC109109;BC109110;BC126905;BC128056;BM927404;CH471076;CN290077;JQ313135;NM_138368 AAG22468;AAH04895;AAI09110;AAI09111;AAI26906;AAI28057;AFA36464;CAD38944;EAW74437;EAW74438;NP_612377;Q2VPB7 Hs.591957 1769076;5020274;5020946;5037552 D8S2279;L17971;L18441;WI-17527 AP-5;DKFZp761E198;PP1030;beta-5;beta5 AP-5 complex subunit beta;AP-5 complex subunit beta-1;adapter-related protein complex 5 beta subunit;adaptor protein 5;adaptor-related protein complex 5;adaptor-related protein complex 5 beta subunit;hypothetical protein LOC91056;uncharacterized DKFZp761E198;uncharacterized protein DKFZp761E198 APPROVED protein-coding HGNC:25104 13223 614367 VALIDATED 733293 APAF1 apoptotic peptidase activating factor 1 This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 12 12 12 q23 98703974 98794106 + 99039078 99129211 + 98645228 98735433 + 1580863;704404;2313998;2325742;2325748;2325750;2325739;2325745;2292105;2325751;6480464;6907045 11567033;11753565;14973070;17029665;17224646;17640469;18205898;18931364 10206961;10322433;10364241;10376594;10383829;10393175;10441496;10486928;10543941;10578182;10702682;10722681;10764728;10934467;10949025;11113115;11230124;11242052;11389439;11457460;11550094;11864614;12021264;12147322;12149244;12168954;12477932;12549820;12615903;12637514;12804598;12963020;14566819;14747474;14993223;15001356;15009102;15026369;15033720;15103018;15262985;15305193;15378005;15590702;15649154;15692060;15703181;15735003;15829969;15832174;15832175;15863166;15972851;16046141;16098052;16231040;16232302;16331630;16420245;16595687;16951219;16979168;17081983;17133271;17274640;17348858;17361096;17418785;17534194;17541304;17603079;17876870;17882496;17885667;18029348;18042457;18093951;18309324;18373966;18439902;18587251;18676680;18719738;18834886;19056867;19058789;19074885;19141860;19170196;19238172;19322201;19455599;19603830;19625176;19662370;19675677;19692168;19698783;19801675;19809088;19913121;20345447;20379614;20453000;20628086;20959405;20977544;21104989;21139048;21297999;21528061;21659556;21890473;21906983;21922274;22101335;22143029;22246185;22335196;22632162;22996741;23085065;23207240;23326121;23521171;23822711;24038028;24142530;24416260;24424093;24816145;9267021;9390557;9455477;9488720;9539746;9651578;9753320;9829980;9837928;9878060;9922454 317 C9JLV4;F8VNZ0;O14727 AB007873;AB070829;AB103079;ABBA01053281;ABBA01053282;AC011248;AC013283;AF013263;AF134397;AF149794;AF248734;AJ133643;AJ133644;AJ133645;AJ243003;AJ243004;AJ243005;AJ243006;AJ243007;AJ243008;AJ243009;AJ243010;AJ243011;AJ243048;AJ243107;AK307509;AMYH02027040;AMYH02027041;BC136531;BC136532;BC150255;CH471054;EF560718;NG_029094;NM_001160;NM_013229;NM_181861;NM_181868;NM_181869;XR_429095 AAC51678;AAD34016;AAD38344;AAI36532;AAI36533;AAI50256;AAK28401;ABQ59028;BAA24843;BAC77343;CAB55579;CAB55580;CAB55581;CAB55582;CAB55583;CAB55584;CAB55585;CAB55586;CAB55587;CAB55588;CAB56462;CAB65085;CAB65086;CAB65087;EAW97603;EAW97604;EAW97605;EAW97606;EAW97607;EAW97608;EAW97609;EAW97610;EAW97611;NP_001151;NP_037361;NP_863651;NP_863658;NP_863659;O14727 Hs.552567 1704172;1704188;1704192;1774124;1794152;2106951;2151720;5014467;5016478;5020885;5022651;5037552;5093142 A009H22;APAF1_7746;D11S2921;D8S2279;G32545;GDB:313557;GDB:434012;L17791;PMC310794P40;RH69665;SHGC-79800;SHGC-79820;SHGC-79823 APAF-1;CED4;DKFZp781B1145 OTTHUMP00000243255;OTTHUMP00000243256;OTTHUMP00000243258;OTTHUMP00000243259;OTTHUMP00000243260;OTTHUMP00000243261;apoptotic protease activating factor 1;apoptotic protease-activating factor 1 APPROVED protein-coding ENSG00000120868 HGNC:576 03755 602233 REVIEWED 732461 APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008] 9 9 9 q13-q21.1 42632969 42877657 - 72042448 72287275 - 69427532 69672359 - 1300048;704404;1580863;6480464 10455105;11010978;11036064;11083918;11115513;12006486;12016213;12093160;12177192;12196555;12514209;12849748;12970358;14756819;14960569;14970211;15024025;15164053;15563604;15699037;16344560;16413130;18836734;1968060;19720620;20016085;20160714;20379614;20468060;20531236;21178287;21763699;22355143;23737971;24742670;7545337;7678331;7719031;8887653;9321393;9395480;9585438;9614075;9753324;9822620;9952408 320 Q02410 ABBA01033809;ABBA01033810;ABBA01033811;AC208386;AF029106;AF047347;AL162412;AL162421;AL353693;AL355140;AL713639;AMYH02020937;AMYH02020938;AMYH02020939;AMYH02020940;AMYH02020941;AMYH02020942;AMYH02020943;BF435835;BQ269294;CH471089;DA179202;DA313538;L04953;NM_001163;XM_005251967;XM_005251968;XM_006717093;Z32676 AAA61307;AAC05304;AAC39766;AAI56048;AAI57031;EAW62486;EAW62487;NP_001154;Q02410;XP_005252024;XP_005252025;XP_006717156 Hs.171939;Hs.592974 1667539;1686806;1696038;1731136;1732093;1739881;1754957;1764697;1856744;2114046;2116962;2138398;2156496;2165193;2181622;2218228;7184762;7184858 AB047613;APBA1__4338;D9S1154;D9S1754;D9S2022;D9S327;D9S411E;G15857;RH17597;RH48024;RH93021;SHGC-141873;SHGC-148287;SHGC-83193;WI-16198;WI-17743 D9S411E;LIN10;MINT1;X11;X11A;X11ALPHA;mint-1 OTTHUMP00000021438;adapter protein X11alpha;adaptor protein X11alpha;amyloid beta (A4) precursor protein-binding, family A, member 1 (X11);amyloid beta A4 precursor protein-binding family A member 1;neuron-specific X11 protein;neuronal munc18-1-interacting protein 1;phosphotyrosine-binding/-interacting domain (PTB)-bearing protein APPROVED protein-coding ENSG00000107282 HGNC:578 03879 602414 REVIEWED 1312445 APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein INVOLVED IN blood coagulation (inferred); platelet activation (inferred); signal transduction (inferred); PARTICIPATES IN integrin mediated signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cell junction (inferred); cell projection (inferred); cytoskeleton (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 10 10 10 p12.1 26439007 26568370 + 26727253 26856732 + 26438337 26567803 + 1580863;2300340;6480464;8554872 18363565 12477932;14530287;15164054;15469846;15489334;15642358;16005629;16055720;16385451;16581250;17373700;19041431;19098287;19952372;20379614;21454517;21890473;22228203;22566498;22946047;23045549;23420480;24722188;8631894;9407065 54518 B4E100;Q7Z5R6;Q9NWJ6 AB085852;ABBA01034417;ABBA01034418;ABBA01034419;ABBA01034420;ABBA01034421;AK000812;AK303597;AK308916;AL160287;AL355798;AMYH02022496;AMYH02022497;AY152730;BC035636;BC054516;BM150270;BM556115;CH471072;NM_019043;XM_006717451 AAH35636;AAH54516;AAN75525;BAA91384;BAC41256;BAG64612;EAW86095;EAW86096;EAW86097;EAW86098;EAW86099;NP_061916;Q7Z5R6;XP_006717514 Hs.310421 1338804;1770611;1781910;2145615 D10S111;D10S1197;D10S1417;SHGC-106955 INAG1;PREL-1;PREL1;RARP-1;RARP1;RIAM APBB1-interacting protein 1;OTTHUMP00000019344;Rap1-GTP-interacting adaptor molecule;Rap1-interacting adaptor molecule;amyloid beta A4 precursor protein-binding family B member 1-interacting protein;proline rich EVH1 ligand 1;proline-rich EVH1 ligand 1;proline-rich protein 73;rap1-GTP-interacting adapter molecule;retinoic acid-responsive proline-rich protein 1 protein-coding ENSG00000077420 HGNC:17379 16420 609036 VALIDATED 1626268 AP5Z1 adaptor-related protein complex 5, zeta 1 subunit This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011] 7 7 7 p22.2 4774915 4791050 + 4815262 4834026 + 4775631 4794395 + 6480464;7240710;8699517 12107412;12477932;12690205;12853948;14702039;15489334;16189514;18029348;20301682;20613862;21139048;21903422;21906983;21963094;21987572;22022230;22505724;9455477 9907 O43299 AB007875;ABBA01039430;AC092610;AK092068;AMYH02015121;BC008841;BC014240;BC037399;BI766915;BQ228738;CD671081;CH236953;CH471144;NG_028111;NM_014855;XR_242109 AAH08841;AAH37399;BAA24845;EAL23965;EAW87294;EAW87295;EAW87296;EAW87297;EAW87298;EAW87299;NP_055670;O43299 Hs.558440 2127194 RH48634 KIAA0415;SPG48;zeta;zeta5 AP-5 complex subunit zeta-1;OTTHUMP00000200469;adapter-related protein complex 5 zeta subunit;adaptor-related protein complex 5 zeta subunit;hypothetical protein LOC9907 APPROVED protein-coding HGNC:22197 613647;613653 REVIEWED 733396 APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q11-q12 6851376 7048205 + 29211570 29410518 + 28919367 29118315 + 704404;1580863;6480464;8554872 10336668;10777610;10827173;10833507;11036064;11083918;12196555;12477932;12720574;12780348;12972431;14970211;15037614;15345747;15563604;15699037;17332754;17989066;19197363;19222704;19615732;19736351;19744962;20015385;20016085;20029827;20379614;21900206;22222501;22832960;23076970;24009623;24385013;24742670;7545337;8619474;8889548;8955346;9110174;9395480;9585438;9614075;9822620;9860131;9890987 321 H0YL28;H0YMS0;H0YNE8;H0YNG7;Q59G28;Q99767 AB014719;AB209281;ABBA01010382;ABBA01010383;ABBA01010384;AC024474;AC127522;AC243901;AF029108;AF047348;AK124794;AK310413;BC007794;BC082986;BM665057;BX332225;CH471205;KF456028;NM_001130414;NM_005503;U79255;XM_005254331;XM_006720480;XM_006720481;XM_006725543 AAB50203;AAC05306;AAC39767;AAH82986;BAA34734;BAC85951;BAD92518;EAW51516;NP_001123886;NP_005494;Q99767;XP_005254388;XP_006720543;XP_006720544;XP_006725606 Hs.618112;Hs.721380 1719847;1724853;1728315;1728925;1792666;1792668;1792670;1792672;1792674;1792676;1792678;1792680;1792682;1792684;1792686;1792688;1792690;2178280;5109281 Apba2;D1S1425;G63439;PMC156605P1;PMC156605P10;PMC156605P11;PMC156605P12;PMC156605P13;PMC156605P2;PMC156605P3;PMC156605P4;PMC156605P5;PMC156605P6;PMC156605P7;PMC156605P8;PMC156605P9;RH119189;RH123618;WI-14097 D15S1518E;HsT16821;LIN-10;MGC99508;MGC:14091;MINT2;X11-BETA;X11L;mint-2 OTTHUMP00000159568;X11-like protein;adapter protein X11beta;amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like);amyloid beta A4 precursor protein-binding family A member 2;neuron-specific X11L protein;neuronal munc18-1-interacting protein 2;phosphotyrosine-binding/-interacting domain (PTB)-bearing protein APPROVED protein-coding ENSG00000034053 HGNC:579 04090 602712 REVIEWED 733384 APBB3 amyloid beta (A4) precursor protein-binding, family B, member 3 The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q31 136014603 136020939 - 139937853 139944189 - 140558268 140564604 - 6480464;8554872 10081969;10329396;12153398;12477932;14527950;14702039;15489334;16169070;16273093;18029348;20205790;24250222;9407065 10307 D6RBA1;D6RJB2;E7EX91;O95704;Q59EH2;Q96DX9 AB018247;AB024745;AB049618;AB061224;AB079687;AB094990;AB209839;ABBA01026426;AC005214;AC011399;AF224708;AF224709;AF224710;AF224711;AK074885;AK075280;AK125244;AK304824;AK307170;AMYH02012339;BC013158;BC125187;BF448559;CH471062;CQ783896;NM_006051;NM_133172;NM_133173;NM_133174 AAF65172;AAF65173;AAF65174;AAF65175;AAH13158;AAI25188;BAA35188;BAA78674;BAB40806;BAB71767;BAC22578;BAC56948;BAD93076;BAG52024;BAG52101;BAG54172;BAG65572;CAF86913;EAW62041;EAW62042;EAW62043;EAW62044;EAW62045;EAW62046;EAW62047;EAW62048;EAW62049;EAW62050;NP_006042;NP_573418;NP_573419;NP_573420;O95704 Hs.529449 1740445;2107839;2149648;2153349 A007D18;APBB3_9088;D5S2251E;RH16024 FE65L2;MGC150555;MGC87674;SRA FE65-like protein 2;OTTHUMP00000159886;OTTHUMP00000159887;OTTHUMP00000159888;OTTHUMP00000223852;OTTHUMP00000223853;amyloid beta A4 precursor protein-binding family B member 3;amyloid precursor interacting protein;protein Fe65-like 2 APPROVED protein-coding ENSG00000113108 HGNC:20708 04089 602711 REVIEWED 737449 APBA3 amyloid beta (A4) precursor protein-binding, family A, member 3 The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3688414 3699318 - 3750771 3761673 - 3750771 3761698 - 1580863;6480464 10049767;10574372;11440799;11831025;12196555;12477932;14990567;15057824;15489334;15494376;16273093;17959829;18544638;19726677;20016085;20677014;21178287;21903422;23965993;24250222;24742670;24778252;8889548;9860131 9546 O96018;Q9UPY9 AB021638;AB023431;AB024411;AB209603;ABBA01002841;AC005954;AF029110;AMYH02035262;BC008338;BC086306;BG938716;BI910038;BM977984;BQ707748;CH471139;NM_004886;XM_006722950;XM_006722951 AAC17979;AAC72275;AAH86306;BAA74430;BAA83094;BAA83517;BAD92840;EAW69290;EAW69291;NP_004877;O96018;XP_006723013;XP_006723014 Hs.25527;Hs.465607 1652853;1676486;1698940;2109047;5014003;5015879;5020242 APBA3_8956;D11S2612;D17S1136;GDB:314949;RH103039;RH78751;RH79570 MGC:15815;X11L2;mint-3;mint3 X11-like 2 protein;adapter protein X11gamma;amyloid beta (A4) precursor protein-binding, family A, member 3 (X11-like 2);amyloid beta A4 precursor protein-binding family A member 3;neuron-specific X11L2 protein;neuronal munc18-1-interacting protein 3;phosphotyrosine-binding/-interacting domain (PTB)-bearing protein APPROVED protein-coding ENSG00000011132 HGNC:580 05038 604262 REVIEWED 1342475 APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 p13 41255358 41659952 - 40812044 41218731 - 40810027 41216714 - 1580863;6480464;7240710;8554872 12089154;12477932;14527950;15489334;15714520;15761153;16083851;16273093;16344560;17567906;18852029;19542221;20301340;20677014;21139048;21890473;23000965;23259602;23384821;24143882;24250222;8855266;8955346;9585438 323 B4DJ88;B4E2F2;D6RAE0;D6RAJ4;D6RB00;D6RB55;D6RD19;D6RDY3;D6RGD4;G5E9Y1;H0Y943;H0Y9U9;H0YA92;H0YAJ5;Q92870 ABBA01014258;ABBA01014259;ABBA01014260;ABBA01014261;AC093804;AC096712;AC108937;AC131953;AK024871;AK226179;AK289838;AK295974;AK299800;AK304247;AL080130;AL596608;AL600779;AMYH02009085;AMYH02009086;AMYH02009087;AMYH02009088;AMYH02009089;AMYH02009090;AMYH02009091;AMYH02009092;AMYH02009093;BC027946;BC088372;BM546260;BU184203;BX440903;CF552608;CH471069;CX782504;DA603009;DB236935;DC372060;DC377357;DC377693;DC400218;NG_013337;NM_001166050;NM_001166051;NM_001166052;NM_001166053;NM_001166054;NM_004307;NM_173075;XM_005248101;XM_006714005;XM_006714006;XM_006714007;XM_006714008;XM_006714009;XM_006714010;XM_006714011;XM_006714012 AAH27946;AAH88372;ABM82479;ABM85666;BAF82527;BAG58750;BAG61676;BAG65114;EAW92975;EAW92976;EAW92977;NP_001159522;NP_001159523;NP_001159524;NP_001159525;NP_001159526;NP_004298;NP_775098;Q92870;XP_005248158;XP_006714068;XP_006714069;XP_006714070;XP_006714071;XP_006714072;XP_006714073;XP_006714074;XP_006714075 Hs.479602 1336656;1339155;1645720;1646810;1648722;1650684;1651304;1654493;1660287;1665100;1668510;1696362;1697066;1705066;1712042;1719261;1728435;1735400;1753981;1755275;1764445;1766405;1774623;1775351;1850183;1851416;1853184;2110259;2119153;2134941;2140800;2143722;2150534;2151909;2160926;2162931;2165961;2173525;2174975;2175061;2178924;2183025;5015861;5491459;7185938 1862;APBB2_8203;D10S16;D4S1333;D4S174;D4S2536E;D4S2546E;D4S2573E;D4S2651;D4S2919;D4S303;D4S308;D4S3222;D4S3272;D4S999;G33670;G34298;G41963;G63652;MARC_13889-13890:1007561323:1;RH102013;RH118718;RH123352;SHGC-132009;SHGC-142169;SHGC-148037;SHGC-149747;SHGC-50280;SHGC-51476;SHGC-51743;SHGC-53076;SHGC-53092;SHGC-59600;SHGC-59621;SHGC-59693;SHGC-59844;SHGC-67216;SHGC-67240;SHGC-68079;SHGC-77808;SHGC-78054;STS-N27935;STS-R35307;WI-16758 DKFZp434E033;FE65L;FE65L1;Fe65-like 1;MGC35575 OTTHUMP00000218167;OTTHUMP00000218168;OTTHUMP00000218169;OTTHUMP00000218170;OTTHUMP00000218869;OTTHUMP00000218871;OTTHUMP00000218876;OTTHUMP00000218877;OTTHUMP00000218879;amyloid beta A4 precursor protein-binding family B member 2 APPROVED protein-coding ENSG00000163697 HGNC:582 04088 104300;602710 REVIEWED 1349313 APBB1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012] 11 11 11 p15 6535423 6559715 - 6416355 6440644 - 6395124 6419613 - 1580863;2301212;2301208;6480464;6907045;8554872 12707777;9799084 10075692;10081969;10561691;10945997;11029529;11065130;11085987;11095528;11099823;11115513;11279131;11436125;11441186;11517249;11606623;11741599;11854179;12089154;12150997;12477932;12653567;12727304;12779321;12843239;12888553;12972431;14569203;14572442;14699153;15037614;15044485;15146195;15331662;15489334;15592452;15647266;15816856;16049941;16055720;16223726;16273093;16332686;16713569;17332754;17368826;17512906;17590240;17686488;17854420;17855370;18096514;18468999;18480379;18550529;18777128;18800165;18833287;18922798;19234442;19343227;19381069;19913121;20091743;20133016;20205790;20405578;20568118;20628086;21139048;21145461;21650223;21824145;21890473;21900206;21968187;22199353;22902274;23000965;23572515;23663107;24056087;24284412;24619425;8855266;8887653;8894693;8955346;9045663;9407065;9461550;9585438;9685356;9738440;9837937 322 B7Z2A2;B7Z3G1;B7Z4M9;J3KPL8;O00213;V9GY97;V9GYD5;V9GYR7 ABBA01028667;AC068733;AC084337;AF029233;AF029234;AF047835;AF394214;AK293452;AK293550;AK293554;AK293613;AK293643;AK293711;AK294495;AK295241;AK295425;AK295837;AK297542;AK297544;AK297550;AK308559;AK308782;AK309000;AK309434;AK309445;AK311091;AK311101;AK311141;AK311149;AK311413;AK311725;AK315965;AMYH02024269;BC010854;BG333769;BG699532;BM145723;BX538185;CH471064;DC303314;DC306210;DC316489;DC319935;EF103274;HY118301;HY138432;HY145957;L77864;NG_029615;NM_001164;NM_001257319;NM_001257320;NM_001257321;NM_001257323;NM_001257325;NM_001257326;NM_145689;NR_047512;XM_006718209;XM_006718210;XM_006718211;XM_006718212;XM_006718213;XM_006718214;XM_006718215;XM_006718216 AAB93631;AAC79942;AAH10854;AAL79526;ABL07489;ABM81923;ABM85101;BAH11511;BAH11531;BAH11532;BAH11546;BAH11554;BAH11576;BAH11788;BAH12016;BAH12063;BAH12197;BAH12610;BAH12612;BAH12615;BAH14336;CAD98057;EAW68722;EAW68723;EAW68724;EAW68725;NP_001155;NP_001244248;NP_001244249;NP_001244250;NP_001244252;NP_001244254;NP_001244255;NP_663722;O00213;XP_006718272;XP_006718273;XP_006718274;XP_006718275;XP_006718276;XP_006718277;XP_006718278;XP_006718279 Hs.372840 1728499;1742579;1850059;2152808 A002D29;G63687;GDB:197904;SMPD1 FE65;MGC:9072;RIR OTTHUMP00000229838;OTTHUMP00000229839;OTTHUMP00000230717;adaptor protein FE65a2;amyloid beta A4 precursor protein-binding family B member 1;amyloid beta A4 precursor protein-binding, family B, member 1;stat-like protein APPROVED protein-coding ENSG00000166313 HGNC:581 04087 602709 REVIEWED 6892856 APCDD1L-AS1 APCDD1L antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 20 20 20 q13.32 53830892 53935401 + 57090435 57194948 + 58515379 58619892 + 8554872 14702039;20838585;24483146 149773 ABBA01005976;ABBA01005977;AI077602;AK054637;AK090612;AK091704;AL050327;AL118513;AMYH02037366;AMYH02037367;NR_034147 Hs.685214;Hs.729646 1784338 SHGC-101667 APPROVED ncrna ENSG00000231290 HGNC:27152 VALIDATED 736624 APC adenomatous polyposis coli This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] 5 5 5 q21-q22 107988802 108127503 + 112043202 112181936 + 112707505 112846239 + 734579;1331525;1580863;2293188;2317199;2317202;2317200;2317207;2317191;2317198;2317208;2317205;2317206;6480464;6484523;6484525;6484212;6484113;1601201;6907045;7240710;7242056;7242057;7242060;7242059;7242058;8554872;8699517 10212000;10426194;11547943;11677205;11891193;1423316;15118671;15203750;15447999;15467712;16116480;1651563;16959882;17238184;17360473;17596282;18432252;21599969;7478622;8090754;9369932 10074433;10092233;10188731;10228155;10330181;10330403;10470088;10545404;10656683;10666372;10698523;10749862;10773885;10782927;10811618;10926498;10947987;10951583;10966653;10982189;11029657;11035805;11050185;11076863;11129339;11136974;11157977;11159880;11166179;11221825;11241320;11241666;11251183;11283619;11297546;11348595;11354631;11389840;11409872;11466700;11470413;11483640;11487538;11487578;11533658;11535846;11584047;11585828;11606402;11668620;11696170;11707392;11712088;11720476;11741105;11748858;11751382;11754114;11768389;11768390;11809680;11809682;11856748;11868006;11912492;11920497;11921277;11933206;11943150;11955436;11956815;11972058;12000790;12034871;12045208;12057910;12070164;12072559;12093899;12124804;12136240;12163385;12173026;12173321;12374230;12378616;12387883;12388762;12439748;12477932;12485844;12504226;12508668;12537656;12538344;12575848;12581900;12584179;12606575;12628243;12647217;12655564;12737446;12800081;12800196;12820959;12856637;12901799;12907646;12952940;12955080;1310068;1338691;1338764;1338904;14514668;14520463;14573780;14574158;14578136;14578138;14579148;14624392;14662741;14672538;14679305;14691304;14728717;14729851;14871261;14961559;14991743;15020226;15040027;15108288;15122587;15123239;15133491;15161933;15190067;15251938;15257316;15266213;15273719;15294866;15326380;15327768;15327769;15331612;15342556;15355978;15375803;15446460;15459959;15507235;15520370;15523694;15525529;15540296;15542524;15548520;15561772;15572129;15591320;15639864;15640937;15689459;15733272;15754020;15755874;15761860;15768050;15778465;15821699;15824157;15832580;15833136;15929773;15943410;15951963;15952110;15959913;15981102;16007220;16030254;16088911;16142311;16163548;16184469;16188939;16196087;16199882;16201232;16212417;16228836;16293619;16322291;16329837;16344560;16356174;16382042;16407829;16411234;16423286;16426911;16433700;16450383;16461775;16510874;16510875;1651562;16525027;16537703;16545110;16569251;16611247;16619216;16650078;16680592;16699180;16699861;16710723;16753179;16763565;1678319;16798748;16804979;16820884;16843107;16855398;16951153;16964243;16981189;17028196;17039269;17080006;17081983;17110338;17116713;17119068;17126424;17135276;17143298;17143620;17176113;17189293;17192415;17218255;17221838;17222366;17227893;17252231;17255093;17297457;17360132;17368237;17410430;17411426;17418091;17437043;17454753;17486639;17489848;17505512;17506007;17556698;17558858;17562260;17562262;17569124;17570218;17572842;17588722;17620292;17653897;17665205;17704924;17854661;17882487;17905526;17910481;17920230;17927853;17947477;17952864;17954272;17960617;17963004;17964080;17968317;17973119;18026870;18027849;18058812;18063416;18066497;18070451;18091433;18160396;18166348;18199528;18224684;18265644;18281465;18321998;18337602;18343606;18369740;18375958;18384130;18387968;18393237;18393246;18403596;18406876;18418860;18433509;18451217;18454178;18474248;18477604;18483325;18485586;18486530;18498351;18502210;18519734;18612690;18617334;18629513;18630182;18632633;18632657;18632876;18632987;18646694;18662704;18662849;18676680;18708403;18770064;18774639;18807072;18841156;18844223;18847451;18854359;18955873;18977219;18982352;18987576;18992263;18992635;19013464;19026650;19029688;19035518;19036155;19061640;19064572;19110823;19111562;19124205;19151759;19164452;19169759;19170196;19196998;19240029;19261806;19307944;19309276;19337631;19351817;19378335;19426738;19444466;19448414;19450512;19453261;19470943;19474113;19506903;19515250;19525225;19527492;19527921;19531215;19543899;19571702;19576224;19584833;19593690;19606680;19615284;19615732;19617769;19625176;19632184;19654215;19672874;19679059;19692168;19694001;19701947;19703905;19728755;19768578;19773381;19777185;19793053;19845967;19888426;19889076;19900189;19900451;19912361;19913121;19928347;19928349;19928352;19928354;19945765;19966865;20007843;20027139;20033212;20056645;20063100;20092957;20128690;20149637;20208994;20229069;20237496;20301519;20333795;20352275;20360068;20371677;20434453;20437058;20453000;20473645;20510605;20513532;20519433;20544848;20564245;20570909;20613673;20628086;20649969;20658693;20685668;20696638;20696710;20696900;20723290;20800603;20840677;20844082;20844743;20850014;20887112;20924072;20935450;20936779;20971552;20978149;20978327;21057000;21078161;21110124;21139048;21199875;21207416;21225915;21279955;21302450;21309064;21311754;21315632;21359685;21404461;21442240;21484796;21538028;21573497;21598003;21643010;21664290;21665989;21680534;21737640;21779980;21788986;21807601;21857949;21858148;21859464;21865138;21871439;21900494;21901162;21902576;21904137;21909382;21915313;21948542;21949247;21995949;22000517;22073196;22077694;22081130;22103048;22184111;22262720;22277732;22294772;22324744;22372443;22380946;22431159;22434720;22469663;22496417;22509309;22528324;22669205;22682247;22704062;22719865;22740476;22741528;22761442;22787431;22795047;22796397;22825279;22851115;22864938;22884971;22886683;22893084;22898821;22907428;22976915;22987206;23011394;23055343;23085758;23087084;23131390;23159080;23159591;23244118;23277359;23291410;23299921;23302090;23326336;23334997;23382461;23393221;23405266;23443559;23469016;23504555;23525311;23555190;23561487;23602568;23646120;23788249;23796566;23840886;23846443;23871111;23874531;23896379;23970361;23983135;24005794;24078348;24130866;24139208;24197976;24250222;24255178;24296361;24309598;24320611;24390805;24416237;24590585;24667635;24735542;24736394;24931405;2797819;3789010;7606712;7651399;7661930;7744883;7833149;7833931;7890674;8074697;8111410;8252630;8259518;8259519;8383094;8389242;8521819;8619474;8638125;8638126;8889548;8940264;8990002;9110174;9188857;9286858;9298899;9326658;9375853;9419979;9482734;9601641;9637688;9660858;9707618;9724771;9731522;9731533;9734785;9811605;9950360;9973276 324 B7Z2B6;D6RFL6;E7EMH9;E9PFT7;P25054;Q4LE70;R4GMU6 AB210001;ABBA01069052;ABBA01069053;ABBA01069054;AC008575;AC136500;AF038181;AI492038;AK289567;AK294544;AK309033;AMYH02011976;AMYH02011977;AMYH02011978;AY682982;AY900441;AY925197;BC034955;BC056268;BE047584;BF112110;BG548363;BM271918;BM713901;BM975470;BP230350;CA313732;DA777787;DA795663;M73548;M74088;NG_008481;NM_000038;NM_001127510;NM_001127511;S56365;S67787;S67788;S78214 AAA03586;AAA60353;AAA60354;AAB21145;AAD13997;AAD13998;AAD14918;AAH56268;AAI11463;AAI11592;AAI11931;AAT81590;AAW82777;AAX07544;BAE06083;BAF82256;BAH11802;NP_000029;NP_001120982;NP_001120983;P25054 Hs.158932 1654104;1667557;1668879;1673300;1675349;1679165;1728927;1735542;1741905;1741907;1743019;1743021;1743845;1743847;1743849;1744219;1744483;1744731;1765631;1771080;1771176;1791708;1791710;1791714;1791716;1791718;2119638;2144728;2152868;2173023;2218230;5092614;5119887 A005A37;APC__4217;Apc;D5S1670E;G32214;GDB:186686;GDB:186687;GDB:186862;GDB:249461;GDB:249465;GDB:374804;GDB:374809;GDB:374815;GDB:437971;GDB:456137;GDB:555538;PMC122454P1;PMC122454P2;PMC122454P4;PMC122454P7;PMC122454P8;RH48628;RH65746;RH66045;RH81025;RH94067;SGC32298;SHGC-149076;SHGC-31463;SHGC-36883;STS-R39438;WI-20484;humapc3 BTPS2;DP2;DP2.5;DP3;GS;PPP1R46 OTTHUMP00000159019;OTTHUMP00000222839;OTTHUMP00000222841;OTTHUMP00000222842;adenomatosis polyposis coli;adenomatosis polyposis coli tumor suppressor;adenomatous polyposis coli protein;deleted in polyposis 2.5;protein phosphatase 1, regulatory subunit 46 APPROVED protein-coding ENSG00000134982 HGNC:583 01439 114500;114550;135290;175100;611731;613659 REVIEWED 1351282 APCDD1 adenomatosis polyposis coli down-regulated 1 This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010] 18 18 18 p11.22 10337906 10371983 + 10454625 10488698 + 10454628 10488701 + 1580863;6480464;7240710;8554872;8699517 10878665;12384519;12477932;15489334;15498874;20200978;20379614;20393562;21152411;21866343;22512811;23934736;23999434 147495 J3KTQ6;J3KTR1;J3QSE3;Q8J025;V9GY82;X6RH63 AB056722;AB104887;ABBA01049968;ABBA01049969;ABBA01049970;AF461902;AK300743;AK303076;AL110199;AMYH02034296;AP001099;BC053324;CH471113;CQ756578;NG_027685;NM_153000 AAH53324;AAQ04816;BAC15563;BAC65165;BAG62412;BAG64192;CAF32599;EAX01585;EAX01586;NP_694545;Q8J025 Hs.293274 1340412;1341022;1656203;1658432;1671498 D18S1376;D18S453;D18S53;D18S986;WI-11680 B7323;DRAPC1;FP7019;HHS;HTS;HYPT1 OTTHUMP00000162404;adenomatosis polyposis coli down-regulated 1 protein;hypoptrichosis simplex APPROVED protein-coding HGNC:15718 09595 605389;607479 REVIEWED 1317926 APC2 adenomatosis polyposis coli 2 ENCODES a protein that exhibits beta-catenin binding; INVOLVED IN negative regulation of canonical Wnt signaling pathway; negative regulation of catenin import into nucleus; PARTICIPATES IN basal cell carcinoma pathway; colorectal cancer pathway; endometrial cancer pathway; FOUND IN actin filament; catenin complex; cytoplasm; INTERACTS WITH arsane; arsenic atom; carmustine 19 19 19 p13.3 1384145 1407242 + 1446269 1473243 + 1446270 1473244 + 1580863;6480464;6907045 10021369;10074433;10330403;10644998;10646860;10922056;11691822;12477932;12956947;16510875;17267499;18157572;19913121;20237496;20628086;20826619;21396940;22513088;23840886;24250222;9823329 10297 B5MDS5;K7ELQ3;K7EN62;O95996 AB012162;AB022529;ABBA01002646;AC027307;AF110334;AF110335;AF110337;AF110338;AF128222;AJ012652;AJ131187;AL078616;AMYH02035151;AMYH02035152;BC020381;BC032573;CH471139;NM_005883;XM_005259475;XM_006722607;XM_006722608;XM_006722609;XM_006722610 AAD28183;AAD29273;AAD29274;AAD29275;AAF01784;AAH32573;BAA34611;BAA75469;CAA10317;CAB61207;EAW69496;EAW69497;EAW69498;NP_005874;O95996;XP_005259532;XP_006722670;XP_006722671;XP_006722672;XP_006722673 Hs.446376 1688400;1739943;2132089;2154576;2154638;5093566 A009Q48;D2S2123;G32795;RH36570;RH39051;WI-14332 APCL APC-like;adenomatous polyposis coli like;adenomatous polyposis coli protein 2;adenomatous polyposis coli protein-like protein-coding ENSG00000115266 HGNC:24036 09802 612034 VALIDATED 7870140 APELA apelin receptor early endogenous ligand ENCODES a protein that exhibits apelin receptor binding (ortholog); hormone activity (ortholog); INVOLVED IN apelin receptor signaling pathway (ortholog); cell migration involved in mesendoderm migration (ortholog); endoderm development (ortholog); FOUND IN extracellular region; INTERACTS WITH clofibrate (ortholog); paracetamol (ortholog) 4 4 4 q32 163130354 163150890 + 165798156 165818676 + 164877004 164897524 + 6480464 14702039;20153842;24316148;24407481 100506013 P0DMC3 ABBA01070285;AC104620;AC106872;AK092578;AMYH02010432;EF565119;KJ158076;NM_001297550;NR_038825 AHW47894;NP_001284479;P0DMC3 Hs.105196 ELA;Ende;tdl ELABELA;toddler protein-coding ENSG00000248329 HGNC:48925 615594 VALIDATED 1605849 APCDD1L adenomatosis polyposis coli down-regulated 1-like ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; fonofos 20 20 20 q13.32 53774879 53830407 - 57033503 57090405 - 58459370 58514893 - 6480464;8554872 11780052;12477932;14702039;15465500;15489334;16303743;20379614;20838585 164284 A2A2P3;Q8NCL9 ABBA01005977;ABBA01005978;AK074647;AK293299;AL118513;AMYH02037366;BC101758;BC101760;CH471077;CQ782621;KF456963;NM_153360 AAI01759;AAI01761;BAC11111;BAG56820;CAF85886;EAW75491;EAW75492;NP_699191;Q8NCL9 Hs.119286 1340914;1644481;1688594 D20S164;RH47951;RH75624 FLJ90166;MGC126807;MGC126809;RP4-685L9.2 OTTHUMP00000031398;adenomatosis polyposis coli down-regulated 1 protein-like;protein APCDD1-like protein-coding ENSG00000198768 HGNC:26892 08294 PROVISIONAL 68444 APCS amyloid P component, serum The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008] 1 1 1 q21-q23 132627015 132628060 + 159557616 159558661 + 159587826 159588871 + 1300286;1580863;6480464;8554872 12015594 10631319;10812074;10972085;11359830;11441067;11984001;12100475;12126626;12432394;12477932;12528126;12767937;14500533;14519527;14607961;14718574;1477104;15031287;15174148;15489334;15649951;15837583;1602151;16335952;16380821;16643876;16710414;16784490;17138933;17530641;17630380;17676666;18174230;18624398;19011614;19052452;19056867;19948975;20189569;20237496;20300636;20930309;20932823;21044893;21106539;21223953;21278351;21360619;21900206;21988832;22205573;22396542;22493081;22867744;22939635;23385359;23390551;23423137;23527487;23544079;23600950;23966633;23992930;2987268;3029048;3172210;3211159;3759147;3915434;4055725;7592941;8114934;8144569;81686;8202534;8417122;8662978;8999915;9217261 325 P02743;V9HWP0 ABBA01016619;AL445528;AMYH02002013;BC007039;BC007058;BC070178;BT006750;CH471121;CR450313;D00097;FJ460512;HC250941;HC311130;M10944;NM_001639;X04608 AAA60302;AAH07039;AAH07058;AAH70178;AAP35396;ACS44649;BAA00060;CAA28275;CAG29309;CBJ05768;CBJ21220;EAW52781;NP_001630;P02743 Hs.507080 1649553;1666462;1669000;1683864;2107841 APCS_8204;D1S2412;D1S3199;RH11639;RH93185 HEL-S-92n;MGC88159;PTX2;SAP 9.5S alpha-1-glycoprotein;OTTHUMP00000024355;epididymis secretory sperm binding protein Li 92n;pentaxin-related;serum amyloid P-component APPROVED protein-coding ENSG00000132703 HGNC:584 00101 104770 REVIEWED 735668 APEH acylaminoacyl-peptide hydrolase This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 49676127 49685626 + 49711427 49720936 + 49673994 49683504 + 1580863;6480464;8554872 10395453;10407158;10719179;11921441;12000146;12477932;1521574;15489334;15862967;16169070;16189514;17241160;1740429;18029348;1861871;18781797;2006156;20307617;20529763;21139048;21297633;21890473;21906983;21931648;21963094;21987572;22505724;22863883;22939629;23000965;2392324;24816145;2565880;8411161;8724851 327 C9JIF9;C9JLK2;F8WBC4;F8WEH5;H0YFE5;H7C1U0;H7C273;H7C393;P13798 ABBA01024577;AC099668;AF141383;AK314962;AMYH02006756;BC000362;BC001499;BC001826;CH471055;D38441;NG_011438;NM_001640;XM_005265097;XM_005265098 AAF37321;AAH00362;AAH01499;AAH01826;ABM82344;ABM85518;BAA07476;EAW64994;EAW64995;EAW64996;EAW64997;EAW64998;NP_001631;P13798;XP_005265154;XP_005265155 Hs.517969 1648120;1741429;1744543;1790319 APEH;GDB:181206;GDB:512856;WI-16108 AARE;ACPH;APH;D3F15S2;D3S48E;DNF15S2;MGC2178;OPH N-acylaminoacyl-peptide hydrolase;OTTHUMP00000210907;OTTHUMP00000210908;acyl-peptide hydrolase;acylamino-acid-releasing enzyme;acylaminoacyl-peptidase;oxidized protein hydrolase APPROVED protein-coding ENSG00000164062 HGNC:586 00034 102645 REVIEWED 2302585 API5P1 API5 pseudogene 1 INTERACTS WITH cyclosporin A X X X q24 115898909 115903038 + 115235619 115239750 - 116104366 116108497 - 6480464 10393420 642812 AL732602;AMYH02040296;NG_009200 1671808 RH65627 API5L1 APPROVED pseudo HGNC:595 INFERRED 1350631 APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012] X X X p11.21 58861923 58869355 + 55026756 55034306 + 55000323 55007873 + 1580863;6480464;6907045 11376153;11866537;12477932;12650714;15342556;15489334;15772651;16189514;16341674;16687656;19165527;19443450;19953087;20522537;20843780;21139048;21832049;21890473;22505724;22939629;23000965;24250222 27301 B4DWI9;B7ZA71;E5KN95;Q9UBZ4 AB021260;AB049211;ABBA01069569;AF119046;AJ011311;AK301555;AK316186;AL020991;AMYH02039495;AY884244;BC002959;BI837686;BM795632;BP363514;CH471154;HQ205186;HQ205187;HQ205188;HQ205189;HQ205190;HQ205191;HQ205192;HQ205193;HQ205194;HQ205195;HQ205196;HQ205197;HQ205198;HQ205199;HQ205200;HQ205201;HQ205202;HQ205204;HQ205205;HQ205206;HQ205207;HQ205208;HQ205209;HQ205210;HQ205211;HQ205212;HQ205213;HQ205214;HQ205215;HQ205216;HQ205217;HQ205218;HQ205219;HQ205221;HQ205222;HQ205223;HQ205224;HQ205225;NG_012568;NM_001271748;NM_014481 AAD43041;AAH02959;AAW56941;ABM84595;ABM86482;ADP90654;ADP90655;ADP90656;ADP90657;ADP90658;ADP90659;ADP90660;ADP90661;ADP90662;ADP90663;ADP90664;ADP90665;ADP90666;ADP90667;ADP90668;ADP90669;ADP90670;ADP90672;ADP90673;ADP90674;ADP90675;ADP90676;ADP90677;ADP90678;ADP90679;ADP90680;ADP90681;ADP90682;ADP90683;ADP90684;ADP90685;ADP90686;ADP90687;ADP90689;ADP90690;ADP90691;ADP90692;ADP90693;BAA78422;BAB13764;BAG63051;BAH14557;CAB45242;EAW93208;EAW93209;EAW93210;NP_001258677;NP_055296;Q9UBZ4 Hs.659558 1795364;2191735 APEX2_705;MARC_5951-5952:997299472:1 APE2;APEXL2;XTH2;ZGRF2 AP endonuclease 2;AP endonuclease XTH2;APEX nuclease 2;APEX nuclease-like 2;DNA-(apurinic or apyrimidinic site) lyase 2;DNA-apurinic or apyrimidinic site lyase 2;OTTHUMP00000023390;apurinic-apyrimidinic endonuclease 2;apurinic/apyrimidinic endonuclease-like 2;zinc finger, GRF-type containing 2 APPROVED protein-coding HGNC:17889 06442 300773 REVIEWED 1606343 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 784440 787076 + 20923290 20925931 + 20455131 20457772 + 2315676;2315657;2315665;2315666;2315662;2315686;2315670;2315671;2315672;2315673;2315675;2315878;2315663;2315667;2315656;2315660;2315661;2302852;1599366;2315691;6480464;6484113;6907045 11309329;11465542;11748448;11852039;15344903;15854596;15887293;16406883;17280489;17602955;17974506;18373555;18503157;18637713;18701435;19041121;19202550;19292061;19787261;9030714 10023679;10559261;10585464;10594042;10629618;10667800;10805771;10946230;11073998;11084372;11092888;11096142;11118054;11133992;11182545;11250913;11286553;11452037;11478795;11601988;11705870;11707423;11809897;11832948;11846302;11866537;11895912;12058277;12110916;12161506;12200445;12230304;12231548;12237116;12242029;12384995;12477932;12480540;12519758;12524539;12547389;12555094;12569263;12624104;12628186;12842873;1284593;12857737;12860125;12933815;12966083;1371347;1380454;1380694;1383925;14521941;14581338;14594818;14599768;14625810;14630715;14633989;14643949;14704345;14730972;14767913;15044328;15084314;15107486;15113441;15210853;15247342;15316562;15333465;15362040;15380100;15459284;15472121;15489334;15518571;15592455;15635413;15644200;15674341;15694346;15706084;15731342;15735682;15746160;15816625;15824325;15824742;15831793;15878096;15942031;16000577;16147991;16195237;16221808;1627644;16284386;16356936;16425270;16481227;16481390;16492928;16537925;16554306;16609022;16621887;16712791;16844323;16889694;16956909;16962936;16966185;16973282;16978929;16982113;17008916;17028303;17034901;17040931;17126083;17148573;17177211;1719477;17197435;17203305;17218168;17222938;1722334;17230526;17272283;17283177;17324338;17332344;17355977;17374727;17403694;17479230;17515960;17531525;17555083;17567600;17567611;17599408;17614107;17630376;17685223;17855454;17898541;17922186;17938202;17949784;17984110;17991492;18025089;18029348;18042731;18053222;18061304;18091433;18179823;18206643;18208837;18263880;18324520;18353858;18357393;18393760;18436236;18439621;18466396;18478337;18482781;18505345;18515104;18627000;18627350;18669164;18672023;18676680;18712175;18776186;18779313;18781797;18805789;18809583;18823566;18830263;18850631;18946634;18958420;18971960;18983843;18990748;19029194;19038866;19052983;19064572;19073198;19074850;19097035;19116388;19124499;19124501;19147860;19170196;19181704;19188437;19188445;19219073;19237606;19242824;19324449;19339270;19351502;19367277;19369898;19376732;19393248;19401441;19414392;19449863;19460860;19470598;19471022;19484131;19492297;19505873;19524065;19528510;19536092;19541747;19592152;19625176;19631633;19643912;19692168;19711438;19762350;19764832;19782121;19789190;19846872;19896490;19902366;19934257;20010699;20032196;20061190;20087352;20133634;20150366;20211142;20218738;20218899;20223788;20226869;20231292;20232390;20332233;20354815;20377204;20391347;20403997;20453000;20493910;20496165;20498636;20522537;20530453;20534262;20540786;20574454;20577654;20601096;20606276;20633698;20634891;20644561;20679741;20696907;20699270;20720310;20731661;20808930;20817763;20852942;20856196;20919954;20929586;20955519;21030352;21037106;21044950;21110914;21132382;21139048;21198260;21323960;21420246;21429202;21451252;21467074;21479902;21538578;21561390;21615620;21722819;21727086;21756546;21769563;21778470;21832049;21865600;21900206;21906983;21912662;21933813;21935361;21987080;22024594;22148505;22174317;22176746;22193858;22205985;22224629;22243137;22306120;22329793;22362780;22371940;22379092;22384055;22493391;22580151;22652909;22688662;22713458;22863883;22918947;22939629;23038158;23065211;23074184;23094050;23110144;23143180;23268706;23272074;23315699;23355472;23369758;23382073;23408843;23418439;23430444;23479135;23485469;23505922;23544830;23581410;23602568;23643942;23665318;23669291;23749940;23776569;23781133;23831574;23834463;23846616;23871947;23874636;23874853;23879289;23898172;23934858;23994194;24023291;24076439;24079850;24127576;24209961;24213673;24254302;24257553;24284961;24297337;24310503;24311596;24329908;24332808;24349526;24375045;24381055;24385289;24400589;24414702;24515769;24523018;24703901;24705777;24816145;24848015;7961715;8086453;8619474;8621488;8932375;8942627;9108029;9110174;9119221;9207062;9351835;9361024;9560228;9870152 328 G3V2D9;G3V359;G3V3C7;G3V3M6;G3V3Y6;G3V574;G3V5D9;G3V5M0;G3V5Q1;H7C4A8;P27695;Q5TZP7 ABBA01061230;AF488551;AI554786;AK098588;AK291100;AL355075;AMYH02028824;BC002338;BC004979;BC008145;BC019291;BC095428;BT007236;BT020133;BX161454;CB139337;CH471078;D13370;D90373;M80261;M81955;M92444;M99703;NG_008718;NM_001244249;NM_001641;NM_080648;NM_080649;S43127;U79268;X59764;X66133;XM_005267581;XM_005267582 AAA58371;AAA58372;AAA58373;AAA58629;AAB22977;AAB50212;AAH02338;AAH04979;AAH08145;AAH19291;AAH95428;AAL86909;AAP35900;AAV38935;ABM82740;ABM85924;BAA02633;BAA14381;BAF83789;CAA42437;CAA46925;CAD61917;EAW66463;EAW66464;EAW66465;EAW66466;EAW66467;EAW66468;NP_001231178;NP_001632;NP_542379;NP_542380;P27695;XP_005267638;XP_005267639 Hs.73722 1744369;1797290;2113864;2170932;2174947;2186296 APEX;APEX1_1488.2;D2S2636;GDB:451907;SHGC-36712;WI-18729 APE;APE1;APEN;APEX;APX;HAP1;REF1 AP endonuclease 1;AP endonuclease class I;AP lyase;DNA-(apurinic or apyrimidinic site) lyase;OTTHUMP00000163988;OTTHUMP00000163989;OTTHUMP00000244791;OTTHUMP00000244792;OTTHUMP00000244793;OTTHUMP00000244795;OTTHUMP00000244796;OTTHUMP00000244798;OTTHUMP00000244800;OTTHUMP00000244801;apurinic-apyrimidinic endonuclease 1;apurinic/apyrimidinic (abasic) endonuclease;apurinic/apyrimidinic exonuclease;deoxyribonuclease (apurinic or apyrimidinic);multifunctional DNA repair enzyme;protein REF-1;redox factor 1;redox factor-1 APPROVED protein-coding ENSG00000100823 HGNC:587 00136 107748 REVIEWED 1603043 APIP APAF1 interacting protein APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008] 11 11 11 p13 35051185 35085276 - 34903842 34937939 - 34882295 34916411 - 6480464;6907045 10810093;12477932;15262985;15489334;16189514;16344560;17207965;19060904;19322201;20800603;21139048;21382349;21602797;22407486;22837397;23144326;23192037;23285211;24367089;24654937;8125298 51074 Q96GX9;S4R3D6 ABBA01060863;AC107928;AF088034;AF132963;AK225249;AK226157;AK292648;AK302225;AMYH02024591;BC008440;BC009077;BC017594;BP200131;CH471064;DA729016;NM_015957 AAD27738;AAH08440;AAH09077;AAH17594;ADQ32639;BAF85337;BAG63579;EAW68161;NP_057041;Q96GX9 Hs.447794 1659304;1707728;5015961;5022322;5109281 D11S2560;D15S1477;D1S1425;SHGC-82079;WI-20739 APIP2;CGI-29;CGI29;MMRP19;dJ179L10.2 APAF1-interacting protein;MTRu-1-P dehydratase;OTTHUMP00000232946;hAPIP;methylthioribulose-1-phosphate dehydratase;probable methylthioribulose-1-phosphate dehydratase APPROVED protein-coding ENSG00000149089 HGNC:17581 14725 612491 VALIDATED 1349695 APH1A APH1A gamma secretase subunit This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011] 1 1 1 p36.13-q31.3 123353530 123357263 - 150237799 150241609 - 150265399 150269209 - 2302204;6480464;6484113;6907045 17761886 10810093;12110170;12297508;12471034;12477932;12522139;12679784;12740439;12763021;12787561;12843241;12857757;12917438;12972157;12975309;14572442;14593096;14627705;14702039;15210705;15257293;15274632;15286082;15322084;15322109;15474363;15489334;15629423;15721744;16303743;16344560;16630834;16641999;16757808;17059559;17207965;17986144;18801744;19028695;19322201;19368855;19369254;19946888;20145246;20299451;20379614;20674680;21123562;21443683;21890473;21988832;22771797;23253155;23291095;23864651 51107 B4DUG7;Q5TB21;Q96BI3 ABBA01049330;AC242988;AF151835;AF508787;AK027879;AK075295;AK075452;AK125685;AK297680;AK298832;AK298876;AK300640;AK307358;AK314490;AL138795;AX775955;AX775957;AY113698;AY113699;AY358951;BC001230;BC008732;BC009501;BC015568;BC017699;BC020590;BC068606;BI760743;CH471121;CQ783433;DA589586;DC365601;NG_029952;NM_001077628;NM_001243771;NM_001243772;NM_016022;NR_045033;NR_045034;NR_045035;XM_006711362 AAD34072;AAH01230;AAH08732;AAH09501;AAH15568;AAH17699;AAH20590;AAM61955;AAM61956;AAN63816;AAQ89310;ADQ31632;ADZ15886;ADZ16087;BAC11529;BAG51389;BAG52142;BAG60040;BAG60962;BAG60993;BAG62329;CAE11677;CAE11678;CAF86638;CAI22811;CAI22812;CAI22813;EAW53565;EAW53566;EAW53567;NP_001071096;NP_001230700;NP_001230701;NP_057106;Q96BI3;XP_006711425 Hs.108408;Hs.735911 1652765;1655085;1671882;2150844;2218232;5491270 A004F41;APH-1A__4340;D13S1659;MARC_7139-7140:992008251:1;SGC31751;SHGC-32182 6530402N02Rik;APH-1;APH-1A;CGI-78 OTTHUMP00000014528;OTTHUMP00000014529;OTTHUMP00000037716;anterior pharynx defective 1 homolog A;aph-1alpha;gamma-secretase subunit APH-1A;presenilin-stabilization factor APPROVED protein-coding ENSG00000117362 HGNC:29509 607629 REVIEWED 1320288 API5 apoptosis inhibitor 5 This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 11 p11.2 43480519 43513094 + 43333505 43366080 + 43311955 43344530 + 1643340;6480464 10780674 10393420;11075807;11555636;12477932;12703993;14702039;15489334;15635413;16083285;16344560;17081983;17112319;18029348;18319255;19322201;19387494;19661379;19734545;19821157;19946888;20671611;21110914;21139048;21145461;21890473;22145905;22334682;22863883;22939629;23000965;23824909;23940755;24457600;24785373;24816145;9307294 8539 B4DDR3;B4E283;E9PQK6;G3V1C3;H0YER7;Q9BZZ5 ABBA01060781;AC087276;AF229253;AF229254;AK021649;AK293303;AK294724;AK299288;AK304157;AMYH02024673;AY265973;AY311389;BC015898;BC017709;BF115210;BM193468;BT007093;CH471064;CK904611;DA104687;DC334531;NG_029841;NM_001142930;NM_001142931;NM_001243747;NM_006595;NR_024625;U83857;XM_006718359;Y15906 AAB86528;AAH17709;AAK00737;AAK00738;AAO89077;AAP35756;AAQ76714;ABM81597;ABM84778;BAG56824;BAG57871;BAG61304;BAG65045;CAA75867;EAW68098;EAW68099;NP_001136402;NP_001136403;NP_001230676;NP_006586;Q9BZZ5;XP_006718422 Hs.435771 1671808;1702552;1748667;5016963;5023279;5124005 GDB:451846;RH11873;RH36898;RH65627;RH69526;SHGC-110333 AAC-11;AAC11;API-5;FIF;FLJ11587 OTTHUMP00000232785;OTTHUMP00000232786;OTTHUMP00000232787;OTTHUMP00000232791;OTTHUMP00000232792;antiapoptosis clone 11 protein;cell migration-inducing gene 8 protein;fibroblast growth factor 2-interacting factor 2;migration-inducing protein MIG8 APPROVED protein-coding ENSG00000166181 HGNC:594 16500 609774 REVIEWED 5013857 APITD1-CORT APITD1-CORT readthrough This locus represents naturally occurring read-through transcription between the neighboring APITD1 (apoptosis-inducing, TAF9-like domain 1) and CORT (cortistatin) genes. Alternative splicing results in multiple transcript variants, two of which encode fusion proteins that share sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2011] 1 1 p 10490159 10512060 + 10430102 10452003 + 6480464 11181995;15328517;20967262;24250222;8889548 100526739 Q8N2Z9;R4GMN7 AA858169;ABBA01035603;AF516753;AF521016;AL139424;AL354956;AMYH02000267;AMYH02000268;CF127457;CF128105;CH471130;HY054077;NM_001243768;NM_001270517;NM_198544;NM_199006;NR_037187 AAM61954;AAM70482;CAI19200;CAI19201;EAW71649;EAW71651;EAW71653;NP_001230697;NP_001257446;NP_940946;NP_950171 Hs.412311 KIAA0591 APITD1-CORT read-through;OTTHUMP00000065120;OTTHUMP00000222023 APPROVED protein-coding ENSG00000175279;ENSG00000251503 HGNC:38843 REVIEWED 4144507 API5P2 API5 pseudogene 2 2 2 2 q31.2 172462384 172466442 - 178859544 178863604 - 177994817 177998877 - 728664 ABBA01062241;AC011998;AMYH02005322;NG_009199;NG_012168 1702552 GDB:451846 pseudo HGNC:39070 INFERRED 1344589 APH1B APH1B gamma secretase subunit This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011] 15 15 15 q22.2 40448497 40480071 + 63569749 63601325 + 63277550 63309126 + 2302204;6480464;6484113 17761886 11076863;11230166;11256614;12110170;12297508;12471034;12477932;12740439;12763021;12787561;12843241;12857757;12975309;14702039;15286082;15474363;15489334;15489336;15591316;15629423;15721744;15823552;16344560;16381901;16630834;16757808;17466415;17986144;18987747;19774691;21890473;21906983;21963094;23665252 83464 H0YKZ9;H0YLT0;H0YM95;Q4R1J8;Q8WW43 AA808355;AB189172;AB197122;ABBA01038913;AC016207;AF508794;AI693802;AK057677;AK291204;AK307456;AK307725;AK310843;AL136671;AMYH02030584;AY358698;BC020905;BI825203;CH471082;DA397427;NM_001145646;NM_031301 AAH20905;AAN63817;AAQ89061;ABM82327;BAD95573;BAE02660;BAF83893;CAB66606;CAL37602;CAL37756;EAW77644;EAW77645;NP_001139118;NP_112591;Q8WW43 Hs.511703 1664853;1715165;1736534;1779062;2180977 A007E02;D15S734E;RH119833;STS-N31710;WI-10749 APH-1B;DKFZp564D0372;FLJ33115;PRO1328;PSFL;TAAV688 OTTHUMP00000163761;anterior pharynx defective 1 homolog B;anterior pharynx defective 1B-like;aph-1beta;gamma-secretase subunit APH-1B;presenilin stabilization factor-like;presenilin-stabilization factor-like APPROVED protein-coding ENSG00000138613 HGNC:24080 06361 607630 VALIDATED 733537 APLNR apelin receptor This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009] 11 11 11 q12 54360003 54363879 - 57001051 57004927 - 57233577 57237453 - 1580863;1304466;2313945;6480464;8554872 14645236;17692936 10737800;11004481;11040134;11250876;12477932;12603839;12667811;14622440;14675627;14702039;15087458;15489334;15664671;16303743;17128405;17309882;17412318;17826642;18240029;18401529;18577758;19069168;19123778;19307984;19527631;19680269;19926159;20055692;20099713;20125035;20220056;20224560;20353754;20485192;20675385;20921899;21233449;21412239;21450694;22037214;22109355;22112232;22611158;22842622;22995518;23226564;23438363;23844873;8294032;8889548;8971794;9653051;9736741;9792798 187 B2RDH3;B3KQN4;P35414 ABBA01021468;AK074514;AK075252;AK097232;AK315542;AL548962;AL553350;AMYH02024839;AP001786;BC032688;BI004477;BM698661;BX439288;CH471076;NM_005161;NR_027991;U03642;X89271 AAA18954;AAH32688;ABM81770;ABW03307;BAC11032;BAG37920;BAG52096;BAG53437;CAA61546;EAW73730;NP_005152;P35414 Hs.438311 1651306;1732784;1754009;1772585;1791432;2113962;2151727 A004D04;AGTRL1;D11S1946E;D11S4599;PMC110125P1;RH70528;SHGC-132053 AGTRL1;APJ;APJR;FLJ90771;FLJ96609;HG11;MGC45246 APJ (apelin) receptor;APJ receptor;G protein-coupled receptor APJ;G-protein coupled receptor APJ;G-protein coupled receptor HG11;HG11 orphan receptor;angiotensin II receptor-like 1;angiotensin receptor-like 1 APPROVED protein-coding ENSG00000134817 HGNC:339 02503 600052 REVIEWED 736696 APLP1 amyloid beta (A4) precursor-like protein 1 This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 33073585 33084883 + 36358806 36370699 + 35868499 35879797 + 734581;1580863;6480464;8554872 8432545 10081969;10460257;10578233;11247302;12135352;12228233;12477932;12779321;14563850;14597230;14699153;14702039;14970212;14983046;15146195;15208260;15383276;15489334;16169070;16193067;16344553;16531006;17620599;17709753;18272596;18430897;19126676;19401174;20049724;21178287;21574595;21900206;21952790;22178872;23864651;23874953;7494461;7929392;8894693;9428684;9521588;9729270;9890987 333 B7Z4G8;F5GZ08;K7ELK0;K7EMN4;K7EMS1;K7EQJ4;P51693;S4R3U6 ABBA01018771;ABBA01018772;AD000864;AK092376;AK126907;AK297339;AK297640;AK312292;AMYH02035992;BC012889;BC013850;BC032983;BQ219233;EF036503;NM_001024807;NM_005166;U48437 AAB50173;AAB96331;AAH12889;ABM82267;ABM85449;ABO65089;BAG35219;BAH12554;BAH12638;NP_001019978;NP_005157;P51693 Hs.74565 1654648;1730237;2111113;2160136;2174267;5015861;5020242;5020948;5022651;5037552;7185938;7187020 D10S16;D11S2612;D11S2921;D19S237E;D1S357E;D8S2279;G35510;HSC0VF102;RH66352;SHGC-4198 APLP;APLP-1 amyloid precursor-like protein 1;amyloid-like protein 1 APPROVED protein-coding ENSG00000105290 HGNC:597 00102 104775 REVIEWED 1318897 APMAP adipocyte plasma membrane associated protein ENCODES a protein that exhibits arylesterase activity; INVOLVED IN biosynthetic process (inferred); FOUND IN cell surface; extracellular vesicular exosome; membrane; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2,3,7,8-tetrachlorodibenzodioxine; disodium selenite 20 20 20 p11.2 25017384 25047231 - 24943566 24973610 - 24962930 24992974 - 6480464 10945474;11583587;11780052;12477932;12754519;12975309;14702039;15489334;16169070;16335952;17207965;18513186;20552250;21139048;21890473;21906983;21988832;22267596;22268729;22304920;22797925;23000965;24583282;24654937;24816145;8889548 57136 H0Y512;Q9HDC9 AB033767;ABBA01048732;AK025834;AK026866;AK291129;AK301959;AL035661;AMYH02036843;AY359076;BC003501;BG773501;CF131759;CH471133;KF456874;NM_020531;XM_005260763 AAH03501;AAQ89435;ADQ31753;BAB11885;BAB15253;BAB15578;BAF83818;BAG63373;EAX10113;EAX10114;NP_065392;Q9HDC9;XP_005260820 Hs.472330 1682672;1683337;1685437;1687373;1688271;1688382;1689223;1712066;1735010;1774757;2120624 A002G20;Bda02b03;D20S566E;G54080;IB2318;RH1693;RH39021;RH39025;RH45409;RH71149;RH76356 BSCv;C20orf3 OTTHUMP00000030464;OTTHUMP00000164236;adipocyte plasma membrane-associated protein APPROVED protein-coding ENSG00000101474 HGNC:13238 09840 615884 VALIDATED 1344091 APLF aprataxin and PNKP like factor C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008] 2 2 2 p13.3 68544671 68657741 + 68694691 68839361 + 68467559 68580162 + 6480464;8662352;9068945;8554872 20192759;23288364 12477932;14702039;15489334;15815621;16344560;17353262;17396150;17507382;18077224;18172500;18474613;19155274;19661379;20098424;21211721;21211722;21414327;21832049;21885877;22190364;23178593;23689425;23926104;23940030;24250222 200558 E9PRH6;F8WET0;Q8IW19 ABBA01075486;ABBA01075487;ABBA01075488;ABBA01075489;ABBA01075490;AC105054;AC127383;AC130709;AK290841;AK308186;AMYH02004015;BC030711;BC041144;CH471053;DA641644;NM_173545 AAH41144;AAY14945;AAY24008;AAY24113;BAF83530;EAW99871;EAW99872;NP_775816;Q8IW19 Hs.720369 1668923;2182731 D2S2874;RH17523 APFL;C2orf13;FLJ16593;MGC47799;PALF;Xip1;ZCCHH1 OTTHUMP00000159966;PNK and APTX-like FHA domain-containing protein;PNK and APTX-like FHA protein;XRCC1-interacting protein 1;aprataxin and PNK-like factor;aprataxin- and PNK-like factor;apurinic-apyrimidinic endonuclease APLF;zinc finger, CX5CX6HX5H motif containing 1 APPROVED protein-coding ENSG00000169621 HGNC:28724 09848 611035 VALIDATED 1602808 APITD1 apoptosis-inducing, TAF9-like domain 1 This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2010] 1 1 1 p36.22 9601550 9623464 + 10489944 10510239 + 10430102 10442815 + 6480464 11329013;12477932;15328517;15740626;16622419;16622420;17207965;17962439;19620631;19913121;20347429;20628086;21832049;21890473;22510687;22705371;23000965;23886707;24250222;24256282;24522885;24816145;8889548 378708 K7ESB0;Q8N2Z9 ABBA01035603;AL354956;AMYH02000267;AMYH02000268;BC029430;BE858209;BG213105;BG546364;BM905996;BU902753;CA311915;CH471130;NM_199294;NR_036462 AAH29430;ADQ32275;CAI19199;EAW71654;NP_954988;Q8N2Z9 Hs.412311 2218416 CORT_4621 CENP-S;CENPS;FAAP16;MGC32686;MHF1 FANCM-interacting histone fold protein 1;Fanconi anemia-associated polypeptide of 16 kDa;OTTHUMP00000065118;OTTHUMP00000065120;OTTHUMP00000222023;apoptosis-inducing TAF9-like domain-containing protein 1;centromere protein S APPROVED protein-coding HGNC:23163 609130 REVIEWED 1351986 APLN apelin This gene encodes a peptide that functions as an endogenous ligand for the G protein coupled receptor APJ. The encoded protein is synthesized as a prepropeptide that is processed into biologically active C-terminal fragments. The peptide fragments activate different tissue specific signaling pathways that regulate diverse biological functions including fluid homeostasis, cardiovascular function and insulin secretion. This protein also functions as a coreceptor for the human immunodeficiency virus 1.[provided by RefSeq, Feb 2010] X X X q25 129165798 129175495 - 128779236 128788933 - 129645259 129654956 - 632245;632246;1304466;1580863;1626175;1626176;1626170;1626174;1626186;1626173;1626171;1600932;1626177;2313938;2313942;2313944;6480464 10525157;14645236;15664402;15970339;16263185;16278229;16674982;17055480;17119870;17391779;17594060;18484561;19015606;19756893;9792798 10617103;11040134;11090199;12477932;12603839;12798955;12914775;12963638;12975309;14702039;15231996;15489334;15664671;15677759;15772651;16115460;16563531;16723381;17060400;17128405;17177135;17412318;17823846;17826642;17906101;18240029;18272843;18401529;18505110;18577758;18617693;18772060;18816630;18845302;19060904;19100414;19123778;19307984;19344973;19527631;19567136;19597036;19643928;19766342;19804703;19913121;19926159;19940213;20045153;20055692;20099713;20220056;20224560;20382684;20485192;20495838;20504125;20580037;20581707;20610231;20628086;20652246;20662349;20669343;20675385;20676956;20813143;20843995;20864562;20943064;21158215;21233449;21264801;21358603;21412239;21448846;21521329;21575945;21609753;21631898;21775567;21821917;21864607;22007137;22037214;22200678;22203468;22209991;22285858;22360921;22505607;22533552;22611158;22676366;22699819;22780711;22884920;22895257;22927708;22944040;22995518;23226564;23227256;23227848;23296045;23314958;23316219;23318714;23406471;23422767;23429279;23437347;23476106;23484462;23515451;23557907;23577111;23817469;23844873;23950038;23973863;24032577;24089668;24362107;24433492;24736484 8862 B2R550;Q9ULZ1 AB023493;ABBA01047827;AF086248;AF179680;AK001855;AK312061;AL022162;AMYH02040464;AY358657;BC021104;BM992527;CH471107;DB481574;NG_016718;NM_017413 AAF25815;AAH21104;AAQ89020;ABM83051;ABM86244;BAA84975;BAG34997;EAX11828;EAX11829;NP_059109;Q9ULZ1 Hs.303084 1689851;2114763;2217018 APLN_3269;RH18197;RH91453 APEL;XNPEP2 AGTRL1 ligand;APJ endogenous ligand APPROVED protein-coding HGNC:16665 02246 300297 REVIEWED 731852 APLP2 amyloid beta (A4) precursor-like protein 2 This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 11 q24 127107986 127182408 + 129939716 130014706 + 130069821 130144811 + 1580863;734582;6480464 8086458 10081969;10460257;10490823;10702673;11247302;11443060;11746496;12228233;12372026;12477932;12499552;12595709;12917434;14597230;14699153;14702039;14970212;14983046;15146195;15208260;15231748;15489334;15584916;15778465;16193067;16279945;16622416;16645641;17371289;17405931;17452623;17709753;18452037;18641335;19019082;19126676;19184004;19199708;19322201;19808674;19946888;20195357;20379614;20732423;20936779;21081666;21103663;21139048;21178287;21459473;21522131;21695060;21826533;21875946;21890473;21906983;21952790;21963094;21987572;21988832;22641691;22797723;23000965;23430252;25015289;25027693;7539437;7702756;7929392;8020984;8125298;8220435;8485127;8855266;8894693;9109675;9461550;9556595 334 B4E3I5;E9PK76;E9PPD0;E9PQS3;E9PSC7;Q06481;Q9UED0 AB015751;ABBA01023029;ABBA01023030;AF168956;AK056883;AK122834;AK124457;AK128162;AK225283;AK296765;AK300378;AK304736;AK308248;AK308932;AMYH02025784;AMYH02025785;AMYH02025786;AP001183;AP003041;BC000373;BC004371;BM992563;BX647107;CH471065;DC336210;L09209;L19597;L23113;L23114;L27631;NG_029770;NM_001142276;NM_001142277;NM_001142278;NM_001243299;NM_001642;NR_024515;NR_024516;S60099;Z22572 AAA35526;AAA35601;AAA36032;AAA36130;AAC41701;AAC60589;AAD47291;AAH00373;AAH04371;ABW03428;ABW03750;BAA34958;BAG54641;BAG59345;BAG62113;BAG65497;CAA80295;EAW67768;EAW67769;EAW67770;EAW67771;EAW67772;EAW67773;EAW67774;NP_001135748;NP_001135749;NP_001135750;NP_001230228;NP_001633;Q06481 Hs.370247 1682559;1732782;1767910;1774254;1782384;2164644;2175794;2181926;5014051;5037552 D11S1945E;D11S3981;D8S2278;D8S2279;RH11795;RH27778;SGC44685;SHGC-153998;SHGC-30035;SHGC-52431 APLP-2;APPH;APPL2;CDEBP CDEI box-binding protein;OTTHUMP00000230926;OTTHUMP00000230927;OTTHUMP00000230928;OTTHUMP00000230929;OTTHUMP00000230930;amyloid precursor protein homolog HSD-2;amyloid protein homolog;amyloid-like protein 2 APPROVED protein-coding ENSG00000084234 HGNC:598 00103 104776 REVIEWED 737360 APOA2 apolipoprotein A-II This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008] 1 1 1 q23.3 134259238 134260561 - 161192083 161193418 - 161222293 161223628 - 1599158;1599161;1300287;1601191;1601190;1580863;1578416;2313955;2313956;2313960;2313961;2313962;2313957;2313959;2313958;6480464;7240710;8554872 11126402;11246886;12738753;1466661;16011471;17923573;19817643;2123716;9002300;9489233;9578960;9649952;9829487;9933608 10722751;10764676;11162594;11551871;11591715;11714842;11971944;11991719;12032642;12116231;12116266;12136239;12136402;12269810;12458630;12477932;12522687;12562854;12576517;12642785;12690114;12692552;12959642;14650352;14718574;14967812;14988251;15174051;15247216;15388641;15489334;15833935;15922294;1606170;16254078;16368749;16407233;16682745;16710414;16990646;17264082;17446329;17652309;17709437;17786215;18179799;18269685;18636124;18652418;18660489;18676680;18766253;19056867;19069164;1908160;19170196;19193611;19216768;19285487;19336475;19423540;19618959;19625176;19635584;19651918;19692168;19778946;19878569;19901143;19910634;19913121;19948975;20022911;20031551;20331378;20406964;20430392;20438785;20602615;20628086;20679960;20855565;20975728;210174;2107739;21103663;21300819;21386805;21501035;218942;22235130;22723940;23025327;23241412;23620136;23631828;23883582;24012775;24089247;24108135;24116940;2414299;2415515;2989800;2995928;3088392;3104518;3136074;3935800;4338591;4344225;4345202;6089788;6090207;6315718;6328445;6407957;6428397;6433912;6438100;6789904;6816269;7518568;7918467;8106353;8245722;8636092;8640403;9469594;9651324 336 D3DVG8;P02652;Q76EI7;V9GYC1;V9GYE3;V9GYG9;V9GYM3;V9GYS1 AB106565;ABBA01016596;AC243898;AK312034;AL590714;AY100524;BC005282;BT006786;CH471121;M29882;NG_012043;NM_001643;X00955;X02619;X02905;X04898 AAA51701;AAH05282;AAM49807;AAP35432;ABM83419;ABM86631;BAD05173;BAG34971;CAA25467;CAA26474;CAA26665;CAA28583;EAW52618;EAW52619;EAW52620;EAW52621;EAW52622;NP_001634;P02652 Hs.237658 1682866;2140058;2149301;2156650 APOA2;SHGC-17;SHGC-2468;SHGC-32683 Apo-AII;ApoA-II;apoAII OTTHUMP00000032244;apolipoprotein A2 1643243;2314798;2314801;2315058;2315765;2315816;2316879 BW132_H;GLUCO117_H;GLUCO120_H;GLUCO133_H;GLUCO149_H;GLUCO177_H;GLUCO304_H APPROVED protein-coding ENSG00000158874 HGNC:601 00129 107670;143890 REVIEWED 736126 APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. [provided by RefSeq, Jul 2008] 12 12 12 p13.1 9377416 9393928 - 7801996 7823195 - 7649400 7670599 - 1580863;1626277;1626278;625559;1578416;6480464;8554872 11116209;12020819;16011471;8781289 10669759;10781591;11134005;11352648;11577082;11584023;11698249;11727199;11815617;12477932;12683974;12881431;12896982;14559896;15516966;15659357;15979078;16999936;17696929;18051367;18971252;19911124;19913121;19932086;19965785;20331378;20348446;20628086;7698776;7736571;8078915;8208612;8692961;8999813;8999814;9186903;9479499 339 P41238;Q4VB33 AB009426;ABBA01012203;ABBA01012204;AC006927;AI862416;AMYH02025968;AMYH02025969;AMYH02025970;BC096158;BC096159;BC096160;BC096161;BC101404;BC101405;BC101972;BC101973;BC144708;CH471116;L25877;L26234;NM_001644;U72890;U72891;U78720;XM_005253355;XM_005253356 AAA64230;AAA86766;AAD00185;AAD09567;AAD10701;AAH96158;AAI01973;AAI01974;AAI72305;BAA23882;EAW88660;EAW88661;NP_001635;P41238;XP_005253412;XP_005253413 Hs.560 APOBEC-1;BEDP;CDAR1;HEPR C->U-editing enzyme APOBEC-1;OTTHUMP00000180598;apolipoprotein B mRNA editing enzyme complex-1;apolipoprotein B mRNA-editing enzyme 1 APPROVED protein-coding ENSG00000111701 HGNC:604 02531 600130 REVIEWED 737553 APOA4 apolipoprotein A-IV Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008] 11 11 11 q23 113849234 113851827 - 116691418 116694011 - 116820702 116823295 - 1578411;1331525;1580863;1578416;1578442;5685680;5685681;5685682;5685641;5685646;5685649;5685660;5685638;5685661;5685691;5685637;5147768;5685642;5685665;5685692;5685679;5685648;5685659;5685662;5685673;5685694;5685702;2311210;6480464;5685683;5685688;5128563;5685667;5685672;5685678;5685658;8699517 10428310;10559562;10892728;11555832;12676816;12836058;15118671;15254593;16011471;16013913;16372267;16815451;17206692;18061280;18343991;19081814;19379511;19383442;19589605;20367977;2050689;20580919;20810159;21078314;2120218;21297956;21356380;21569504;2167514;22146476;226830;7958503;9013087;9272683 10069372;10391210;11108737;11162594;11181750;11254757;11472750;11583715;11592042;11841825;11940599;11941585;11952809;12082592;12116231;12121350;12220435;12417525;12477932;12495081;12556235;12664082;12691171;12692552;12697303;12777472;12860258;12962772;1349197;14718574;14751811;1487136;15108119;15174051;15175360;15252864;15258202;15304365;15311933;15359534;15488874;15489334;15559160;15649902;15721024;15764642;15806598;15823278;15864114;15868628;15910632;15928313;15962178;16030523;16105043;16120654;16159879;16321685;16326171;16338932;16602826;16651467;16710093;16763159;16770585;1677358;16781717;16788210;16929032;16945374;17130180;17154273;17261136;1737067;17378725;17457002;17654446;17712726;17825930;17855807;17964293;18029348;18193043;18193044;18430727;18513389;18636124;18660489;18664021;18676680;18678879;18789138;18948973;18996102;19057464;19060906;19060911;19074352;19131662;19166692;19170196;19263529;19336370;19336475;19336561;1935934;19403283;19433068;19592705;19625176;19689828;19692168;19701693;19732897;1973689;19878569;19913121;19948975;20031551;20117098;20139978;20164363;20430392;20554794;20602615;20609189;20628086;2065039;20674306;20686565;20714348;20864672;21127258;21324458;21378990;21407247;21712729;21767760;21909109;2216752;22286219;22916037;2307668;23096082;23132909;23288849;2331673;23338533;23505323;2351649;24211975;24311788;24386095;24425874;24606699;2930771;3036793;3080432;3095477;3095836;3611972;3755616;3931073;4345202;6706947;7728150;8688083;8956036;9988739 337 P06727;Q13784 ABBA01039746;AL531739;AMYH02025622;AP006216;AY422950;AY555191;BC074764;BC113594;BC113596;CH471065;J02758;M10373;M13654;M14566;M14642;NG_012044;NM_000482;X13629 AAA51744;AAA51745;AAA51748;AAA96731;AAB59516;AAH74764;AAI13595;AAI13597;AAQ91809;AAS68228;ADR82972;ADR83153;CAA31955;EAW67271;NP_000473;P06727 Hs.1247 1694944;1741807;1741955;1744729;1816102;1816280;1817652;1822700;1837992;2004154;2004156;2004158;2004160;2004162;2004164;2004166;2004168;2004170;2004172;2004174;2004176;2004178;2004180;2004182;2004184;2096962;2096964;2096966;2159678 ECD09091;ECD09182;ECD09878;ECD12438;ECD20167;G44371;GDB:185195;GDB:187004;GDB:555472;REN72989;REN72990;REN72991;REN72992;REN72993;REN72994;REN72995;REN72996;REN72997;REN72998;REN72999;REN73000;REN73001;REN73002;REN73003;REN73004;WI-19503;stSG601802;stSG601803;stSG601804 MGC142154;MGC142156 OTTHUMP00000043267;apo-AIV;apoA-IV;apolipoprotein A4 2289454 BW298_H APPROVED protein-coding ENSG00000110244 HGNC:602 00130 107690 REVIEWED 736192 APOA5 apolipoprotein A-V The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009] 11 11 11 q23 113815476 113818526 - 116660086 116663136 - 116789367 116792420 - 631983;70662;1578411;1578414;1331525;1578412;1578416;2313317;2313314;2313328;2313315;2313318;2313319;2313321;2313322;1601661;6480464;7240710;8554872;8699517 11577099;11588264;12676816;12818421;15118671;15177130;15306190;15941710;16011471;16039297;16238453;17087641;17548321;18468520;18789138;19107359 12417270;12417524;12417525;12436249;12477932;12615678;12637506;12671030;12697303;12709436;12747596;12752569;12810715;12899628;12915450;12920097;12937897;12951359;12975309;14613578;14729863;14732475;14959997;14984471;15046561;15108119;15117734;15131258;15135251;15151505;15157276;15178420;15300628;15317819;15342688;15369751;15447887;15489334;15528295;15542401;15591215;15604515;15636639;15649902;15684402;15781255;15790933;15841042;15857156;15877284;15878877;15924804;15941721;15952115;15996212;16006256;16046221;16051671;16054149;16143024;16192625;16258166;16311097;16321685;16325772;16344560;16375582;16386723;16386743;16401313;16410456;16448983;16474174;16510431;16531747;16636175;16670016;16682041;16687148;16710093;16763159;16769999;16777114;16781717;16806135;16806226;16861622;16887900;16917759;16943456;16954607;17032446;17142127;17157483;17183147;17197160;17211608;17222847;17326667;17356049;17378725;17431185;17457003;17460328;17485571;17493548;17495607;17548323;17635078;17693622;17700364;17705673;17717288;17722232;17726453;17766366;17768309;17855807;17922054;17922432;17936576;17957227;17964293;17997385;18056685;18078817;18087544;18159097;18179892;18193043;18193044;18193158;18206649;18263854;18274205;18274806;18302531;18395529;18424353;18441017;18537870;18543217;18549811;18572192;18577813;18579034;18596051;18601597;18601598;18603531;18607181;18635818;18658049;18660489;18678879;18779834;18801202;18946207;18974842;19018513;19034316;19055447;19056482;19056598;19057464;19060906;19060911;19074352;19121291;19141870;19148283;19150068;19159622;19185284;19185864;19187029;19207029;19253837;19336370;19336475;19343127;19344899;19362162;19403283;19410254;19447388;19530961;19534808;19567162;19578796;19592705;19629056;19656773;19665689;19692219;19701693;19732897;19765959;19825998;19828688;19847674;19878569;19910639;19913121;19915960;19932084;19948975;20031591;20047745;20054229;20059973;20134407;20137539;20139978;20160193;20170397;20303129;20304614;20331378;20392444;20395964;20400780;20413122;20429872;20430392;20442857;20452521;20469899;20480398;20490738;20571505;20604726;20628086;20634891;20657596;20674306;20679960;20686565;20688329;20696075;20708914;20714348;20802161;20838585;20855565;20864672;20869952;20883102;20966404;21033077;21054477;21130994;21132386;21143013;21209257;21238903;21287515;21324458;21347282;21375366;21378990;21386085;21423763;21438666;21463987;21473680;21489765;21505768;21518542;21548985;21643755;21646779;21707471;21729881;21854571;21889769;21909109;21914952;21988832;21993410;22008704;22171074;22239554;22286219;22350263;22359512;22425169;22437554;22517333;22576629;22675253;22688093;22718631;22796346;22809445;22905904;22914552;22914599;22916037;22924697;22955952;23000161;23009782;23065249;23129316;23150946;23248205;23251661;23266809;23307945;23312054;23329134;23415427;23452379;23468858;23479152;23499587;23505323;23509746;23656756;23919616;23957007;23970179;24023260;24097068;24161374;24178511;24386095;24387992;24618354;24768220;25034063 116519 C9JZZ0;Q6Q788 ABBA01039747;AF202889;AF202890;AK292739;AK308047;AK315229;AMYH02025621;AP006216;AX061634;AX704795;AY358749;AY422949;AY555191;BC101787;BC101789;CH471065;DA641693;DB184692;EF444949;NG_015894;NM_001166598;NM_052968;XM_006718761 AAF25661;AAF25662;AAI01788;AAI01790;AAQ89109;AAQ91808;AAS68229;ACA05937;ACA05938;BAF85428;BAG37658;CAC24995;CAD88066;EAW67269;EAW67270;NP_001160070;NP_443200;Q6Q788;XP_006718824 Hs.283923 1803866;1804686;1805656;1805704;1811518;2004356;2004358;2004360;2004362;2004364;2004366;2004368;2004370;2004372;2004374;2004376;2004378;2004380;2004382;2004384;2004386;2004388;2004390;2004392;2004394;2004396;2004398;2096916;2096918;2096920 ECD02845;ECD03275;ECD03778;ECD03802;ECD06759;REN73090;REN73091;REN73092;REN73093;REN73094;REN73095;REN73096;REN73097;REN73098;REN73099;REN73100;REN73101;REN73102;REN73103;REN73104;REN73105;REN73106;REN73107;REN73108;REN73109;REN73110;REN73111;stSG601776;stSG601777;stSG601778 APOA-V;FLJ97995;MGC126836;MGC126838;RAP3;apo-AV APOAV;OTTHUMP00000043271;OTTHUMP00000069351;apolipoprotein A5;regeneration-associated protein 3 APPROVED protein-coding ENSG00000110243 HGNC:17288 06966 144650;145750;606368 REVIEWED 1312295 APOA1BP apolipoprotein A-I binding protein The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008] 1 1 1 q21 129632348 129634881 + 156561554 156564091 + 156591766 156594299 + 6480464 11991719;12477932;17521614;17533573;20000738;20634891;20855565;20877624;21139048;21890473;21900206;22360420;23719382;23793025;24250222 128240 Q5T3I3;Q5T3I4;Q8NCW5 ABBA01016653;AJ315849;AK294835;AK298222;AL365181;AMYH02001976;BC056917;BC100931;BC100932;BC100933;BC100934;BG723681;BQ430064;CH471121;NM_144772 AAH56917;AAI00932;AAI00933;AAI00934;AAI00935;BAG57944;BAG60492;CAC86580;EAW52941;EAW52942;EAW52943;NP_658985;Q8NCW5 Hs.528320 1666869;1677172;1722569;1730245;2140887;2184095 D5S449E;G60215;RH15878;RH83;WI-13531;WIAF-2182 AI-BP;AIBP;MGC119143;MGC119144;MGC119145;YJEFN1;yjeF_N1 NAD(P)H-hydrate epimerase;NAD(P)HX epimerase;OTTHUMP00000031989;OTTHUMP00000031990;OTTHUMP00000031991;apoA-I binding protein;apolipoprotein A-I-binding protein;yjeF N-terminal domain-containing protein 1 APPROVED protein-coding ENSG00000163382 HGNC:18453 16397 608862 REVIEWED 735962 APOA1 apolipoprotein A-I This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The protein promotes cholesterol efflux from tissues to the liver for excretion, and it is a cofactor for lecithin cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. [provided by RefSeq, Jul 2008] 11 11 11 q23-q24 113864272 113866141 - 116706467 116708338 - 116835751 116837622 - 1578410;1599158;1599161;1600654;1331525;1601185;1601187;1601183;1601186;1601188;1580863;1578416;734583;1601184;1578442;2313959;2313960;2313961;2313962;2325756;2325757;2325758;2325759;2325183;5128563;5508213;5508214;5508218;5508219;5508212;5508215;5508216;5508222;5508220;5508221;6480464;6484113;6907045;7240710;7241209;7241214;7241571;7241572;7241573;7241574;7241575;7241576;7241577;7241852;7241863;7241864;2313652;7241867;7241868;7241869;7241855;7241207;7241208;7495790;8554872;8699517 10428310;12725089;1466661;15118671;16011471;16258026;16309370;17217166;17312459;17332923;17488882;17517342;18079481;18287885;18535924;18593575;18614621;19399409;19486127;19561306;19637234;19863188;20085559;20131231;20176799;20350318;20463180;20482780;20488818;20580919;20639628;20739292;20847045;2123716;2128269;21410987;21496341;21726101;21730889;22495291;22515595;22659101;23078847;23227448;23401751;2493483;3142462;7910586;9578960;9649952;9699897;9829487;9931341;9933608 10026251;10085035;10191289;10198255;10222237;10487826;10559507;10627502;10722751;1076467;10764676;10801839;10828089;10858436;11055796;11063469;11162594;11171287;11181747;11223438;11254757;11264435;11297421;11472750;11507973;11572515;11718686;11737222;11744719;11756058;11773045;11776109;11805090;11836686;11854286;11860752;11866037;11866932;11878923;11879189;11903341;11907138;11916081;11929608;11931574;11963567;11991719;12000358;12011770;12030900;12044583;12048121;12050338;12084722;12116231;12123106;12145244;12167653;12173940;12177172;12270762;12369845;12421824;12458630;12462973;12468059;12473160;12477932;12509922;12511593;12515395;12531890;12544508;12556235;12562854;12573451;12576517;12588323;12608057;12642784;12651854;12665801;12690114;12692252;12692552;12709430;12722515;12724319;12732844;12742997;12754494;12754559;12782148;12791946;12798568;12801612;12810715;12818417;12871600;12875674;12928428;12952980;12962772;12964943;12966036;12974138;14510906;14559902;14563824;14567398;14580163;14592845;14609337;14630798;14660648;14665416;14666619;14701824;14703508;14718538;14718574;14729861;14734645;14741338;14746139;14747463;14967052;14967812;14986172;14988232;15001567;15020600;1502149;15036610;15051721;15060083;15066991;15108119;15115711;15174051;15177130;15188057;15218078;15242863;15258834;15280376;15292375;15297675;15304365;15314690;15334687;15358760;15359539;15362856;15464323;15474503;15476409;15488874;15489334;15498766;15533931;15540281;15574409;15584908;15585206;15649902;15654128;15654758;15657615;15694942;15695525;15723520;15751988;15766290;15782489;15805548;15823278;15849246;15868628;1587806;15882068;15900219;15910632;15922294;15925353;15952766;15961173;15962178;15972827;15982502;15994327;16005361;16005451;16005460;16009332;1602151;16023124;16053196;16060677;16091367;16126721;16128586;16130094;16136540;16169070;16197951;16204232;16236546;16259956;16285990;16326978;16342934;16368749;16380821;16403951;16407233;16417409;16418537;16443932;164450;1644835;16452169;16455106;16475830;16495141;16497665;16502470;16520487;16542392;16545386;16574896;16671566;16682745;16698792;16705465;16710093;16763159;16770077;16781717;16801176;16895799;16931800;16939214;16968945;17020879;17071967;17075859;17076584;17113061;17142127;17154273;17165100;17204472;17216278;1723385;17255364;17261136;17272829;17298957;17303779;17378725;17447731;17457002;17474718;17475009;17478755;17510466;17526499;17530370;17530866;17563120;17580958;17600344;17604270;17615385;17654446;17655203;17683612;17693625;17696931;17698072;17727676;17761633;17786215;17825930;17845074;17853951;17855807;17868679;17919884;17938634;17950741;17964293;17967773;17991432;18063807;18073484;1808634;18179799;18179892;18193043;18193044;18193046;18202432;18206649;18218626;18252847;18257091;18280807;18316036;18322452;18378026;18385134;18387362;18388068;18398670;18406360;18506369;18515783;18562802;18565099;18566298;18583707;18594986;18597093;18617649;18621920;18622028;18624398;18660489;18678879;18682504;18688016;18695102;18719109;18719128;18774540;18776170;18801202;18805838;18823627;18824596;18831538;18848320;18927546;1898657;18988890;18988892;19013290;190223;19022789;19023195;19035465;19048603;19056867;19057464;19060906;19060911;19066833;19074352;19105467;19116237;19122170;19124125;19155782;19164805;19170766;19171400;19191080;19207029;19208510;19217440;19218819;19237735;19239199;19242900;19258317;19285487;19304335;19318685;19324878;19324996;19327233;19336370;19336475;19339807;19372457;19408098;19433579;19473658;19481824;19528336;19551315;19558216;19578796;19592705;19618959;19635584;19636829;19651918;19667106;19701693;19729689;19732897;19740687;19762782;19765778;19766218;19786567;19802338;19805625;19878569;19911804;19913121;19917453;19932694;19948731;19948975;19956635;19965585;20008415;20031551;20059975;20064972;20080084;20083572;20110571;20133843;20139978;20143106;20164363;20167577;20182709;20195290;20197510;20211930;20213498;20215705;20331378;20349521;20360068;20368199;20376577;20378541;20382384;20385548;20394740;20399916;20413122;20421239;20430392;204308;20442857;20452482;20459474;20480398;20524691;20534134;20538481;20539018;20571754;20578904;20599735;20602615;20622162;20628086;20634891;20642861;20656001;20660328;20673868;20674306;20683626;20686565;20693280;20714348;20727869;20800056;20801516;20805508;20826588;20835684;20842444;20855565;20864672;20869895;20884842;210174;21033077;21040803;21047795;21069432;2107878;2108924;21103663;2111322;21115733;21117950;21122686;21122859;21129746;21138461;21141907;21145806;21156318;21209084;2123470;21292766;21296086;21329368;21330603;21339300;21354994;21355296;21367423;21378990;21394531;21399642;21399863;21416664;21420943;21443680;21452855;21458433;21504968;21549099;21571275;21576418;21631938;21640348;21676393;21677994;21734188;21749932;21755356;21761133;21767760;21800051;21800421;21801720;21804189;21811627;21820994;21832049;21835924;21840419;21846716;21854571;21868729;21870882;21875686;21900206;21909109;21914797;21944998;21988832;22056562;22105741;22119776;22211563;22219194;22229410;22235130;22245143;22271762;22282358;22286219;22287661;22295944;22297598;22320308;22389325;22407494;22418575;22441101;22471842;22483015;22619369;22674204;22675253;22750655;22889670;22916037;22924697;22952757;22986928;23037322;23066790;23067370;23088652;23096223;23119086;23121297;23125458;23152129;23154241;23183508;23209431;23219399;23233540;23233678;23322769;23359805;23364307;23385359;23409054;23410546;23420675;23425306;23438152;23447138;23454085;23457133;23479152;23505323;23543682;23564081;23568022;23580759;23631828;23650622;23668303;23690001;23697869;23701995;23730806;23740387;23758329;23786280;23806608;23829168;23883582;23889245;23902290;23936200;23969698;23973688;23984834;23989729;23994331;24008390;24015188;24028463;24038215;24038317;24081495;24089247;24097068;24120703;24148653;24201377;24209603;24262325;24285582;24304668;24308268;24316228;24357674;24386095;24407029;24464187;24523407;24558038;24661883;24926085;2506176;2506184;2512329;2673706;2687158;2995392;3005308;3047170;3104518;3119665;3120314;3129297;3142880;3931073;4335615;4345202;6198645;6207999;6294659;6304641;6308458;6328445;6401735;6402711;6404278;6405383;6406984;6409108;6412234;6413973;6432779;6439535;6457647;6489332;6816269;7592581;7638166;7895732;7918609;8049247;8240372;8282791;8663389;8664326;8675681;8740847;9003180;9200714;9211901;9305883;9325276;9356442;9469594;9514407;9593801;9651324;9829992;9916936 335 F8W696;P02647 A14829;A15879;ABBA01039746;AF148963;AF485255;AK292231;AMYH02025623;AP006216;AY422952;AY555191;BC005380;BC110286;CH471065;EF444948;J00098;J04066;M11791;M27875;M29068;NG_012021;NM_000039;X00566;X01038;X02162;X07496;XM_005271539;XM_005271540 AAA35545;AAA51746;AAA51747;AAA62829;AAB59514;AAD34604;AAH05380;AAI10287;AAL92035;AAQ91811;AAS68227;ABM83999;ABM87329;ACA05932;ACA05933;ACA05934;ACA05935;ACA05936;BAF84920;CAA01198;CAA01253;CAA25232;CAA25519;CAA26097;CAA30377;EAW67274;EAW67275;EAW67276;EAW67277;NP_000030;P02647;XP_005271596;XP_005271597 Hs.93194 1682900;1694932;1741747;1743823;1744175;1802234;1802782;1804332;2004042;2004044;2004046;2004048;2004050;2004052;2004054;2004056;2004058;2004060;2004062;2004064;2004066;2004068;2004070;2004072;2004074;2004076;2096984;2096986;2155693 ECD02000;ECD02278;ECD03090;G44357;GDB:182584;GDB:374151;GDB:434790;REN72933;REN72934;REN72935;REN72936;REN72937;REN72938;REN72939;REN72940;REN72941;REN72942;REN72943;REN72944;REN72945;REN72946;REN72947;REN72948;REN72949;REN72950;RH11465;RH1581;stSG601816;stSG601817 MGC117399;apo-AI;apoA-I OTTHUMP00000043268;OTTHUMP00000069346;OTTHUMP00000069347;OTTHUMP00000069348 APPROVED protein-coding ENSG00000118137 HGNC:600 02517 105200;107680;604091 REVIEWED 6906997 APOBEC3A_B APOBEC3A and APOBEC3B deletion hybrid This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. The protein encoded by this gene is the same as that encoded by APOBEC3A; however, this gene is a hybrid gene that results from the deletion of approximately 29.5 kb of sequence between the APOBEC3A gene and the adjacent gene APOBEC3B. The breakpoints of the deletion are within the two genes, so the deletion hybrid is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. [provided by RefSeq, Jul 2012] 22 22 q13 alternate reference locus 68458 78546 + 68458 78546 + 16407327;16527742;17447845;17727729;17977970;18403710;19461882;19788695;20062055;20178977;20615867;21123384;21460793;21957290;22272271 100913187 P31941 AC192820;GL383583;NM_001193289;XM_005276959;XM_005276960 NP_001180218;XP_005277016;XP_005277017 Hs.226307 1658634 STS-T64880 probable DNA dC->dU-editing enzyme APOBEC-3A protein-coding HGNC:44196 REVIEWED 735787 APOB apolipoprotein B This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008] 2 2 2 p24-p23 21063779 21106429 - 21224301 21266945 - 21001429 21044073 - 1578415;1578417;1578418;1578419;1578425;1599164;1599165;1580998;1331525;1601202;1601197;1601200;1580863;1578416;1601198;1601203;1626106;2313974;2313976;2313977;2312763;2313981;2313973;2313979;2313980;2313972;1642185;2325763;2325764;2325770;2325761;2317550;1599167;6480464;6484113;7240710;8699517;8554872 11903341;12730697;15118671;1579407;16011471;16581047;16719989;16728468;16752182;16797745;16828905;17045270;17203948;17292734;1732399;17380167;17696941;18076041;18296645;18945923;19171731;19260948;19324028;19412820;19448981;19592617;20082485;2352345;3473077;7627691;9585673;9603795 10330424;10513896;10574922;10679026;11074075;11170229;11171287;11208426;11333259;11341749;11358959;11359065;11359462;11428473;11459425;11471883;11568510;11575217;11714857;11727199;11737238;11748351;11781700;11833852;11840804;11857554;11869298;11882317;11898622;11940084;11940087;11947895;12011770;12031600;12038793;12044583;12070165;12082592;12124991;12177061;12206678;12208478;12235173;12235182;12368141;12373055;12397072;12397634;12417285;12477932;12492446;12505152;12529498;12535758;12544508;12547700;12551903;12561593;12576514;12582154;12640502;12670940;12691171;12692552;12713147;12736910;12752570;12760338;12760590;12774037;12778454;12818419;12850958;12872264;12895336;12901521;12942366;12964943;13130121;14498830;14550622;14567398;14618390;14706682;14718574;14726411;14732481;14746139;14760718;14763605;14967814;14967820;15028112;15047470;15076187;15102883;15111985;15133863;15135245;15135251;15135253;15186963;15207528;15223114;15242863;15254032;15256516;15258202;15308631;15321837;15321838;15321839;15355439;15358600;15453913;15469418;15477777;15489541;15504742;15543563;15561934;15585207;15591776;15614026;15616123;15618547;15630279;15630635;15637307;15653747;15699916;15701167;15790761;15795421;15797858;15823278;15823288;15830122;15856946;15867268;15890894;15904989;15918022;16007035;16015283;16030169;16136540;16152798;16156669;16159606;16201717;16203724;16233946;16316917;16335952;16386541;16389549;16412386;16419488;16455106;16525840;16544732;16545386;16548883;16596945;16614317;16620782;16634094;16704977;16758614;16776623;16792510;16801176;16854991;16895799;16920700;16925469;16963757;16978902;16981218;16989840;17029200;17032131;17038630;17043676;17046772;17071710;17109403;17111197;17129575;17137217;17142622;17158591;17160438;17194460;17214991;17233885;17244792;17264219;17277381;17277465;17288985;17299378;17337758;17347910;17349073;17350490;17367707;17393087;17393220;17444660;17457002;17462654;17463246;17484618;17502298;17530370;17539906;17548929;17566095;17588943;17595251;17601988;17633563;17640344;17647275;17659091;17672218;17690102;17698027;17698072;17784784;17823116;17855807;17884995;17890784;17964958;18027103;18028451;18031309;18067093;18078817;18160469;18187430;18193043;18193044;18193581;18222178;18254714;18258526;18262040;18279815;18322245;18354102;18387362;18388068;18393233;18473452;18492086;18496130;18512131;18513389;18550891;18566298;18590467;18597093;18599996;18632179;18636124;18658047;18660489;18665040;18684539;18696186;18701171;18710658;18720163;18725409;18728123;18774540;18848826;18925970;18927546;18940289;18948618;18976975;19007590;19020660;19022789;19034549;19056372;19056482;19060906;19060910;19060911;19064256;19072566;19083997;19084451;19098283;19105467;19114110;19122170;19124125;19131662;19148283;19150065;19155782;19156195;19164805;19170196;1917954;19191080;19200542;19200547;19257963;19263529;19282863;19305020;19318025;19319977;19336370;19336475;19342510;19344897;19408349;19409916;19449275;19450572;19479237;19494537;19501493;19513531;19551315;19578130;19592048;19625176;19632678;19642912;19646550;19656773;19667110;19680556;19689828;19692168;19713274;19713673;19729411;19729601;19729689;19766218;19772655;19773416;1979313;19797257;19802338;19841959;19843101;19860767;19888660;19906129;19913121;19915960;19923980;19932694;19934556;19936222;19948975;19956635;19965785;20019594;20031551;20032471;20059992;20080084;20099167;20110441;20133978;20145306;20150556;20160193;20167577;20167655;20181985;20197510;20213498;20236128;20339536;20353182;20368199;20370913;20379614;20382384;20383777;20403997;20407020;20413671;20425806;20452482;20459474;20466372;20503456;20506408;20536507;20538126;20538481;20539018;20565774;20570668;20602615;20609357;20628086;20634891;20635694;20657596;20663853;20673868;20679960;20686565;20691427;20691829;20724655;20816677;20837003;20855565;20858904;20864672;20872969;20930716;20932654;20972250;21039385;21059979;21078674;21122858;21122859;21129357;21129746;21138461;21139048;2115173;21310214;21356116;21357823;21393584;21394531;21402897;21404224;21418831;21421992;21460103;21497351;21502677;21640348;21641598;21693764;21722902;21800051;21801720;21868729;21906983;21943158;21946533;21952877;21958700;21960651;21988832;22041135;22074108;22095935;22105741;22128163;22145905;2216805;221835;22190736;22211563;22223728;22238364;22247256;22268108;22301884;22321874;22341868;22353362;22399527;22407494;22408029;22437562;22441101;22443280;22471842;22507620;22546827;22581286;22607125;22674204;22717515;22751103;22760866;22762727;22786447;22826357;22827961;22897442;22905400;22906437;22913027;22916037;22964994;22985435;23043354;23053881;23067240;23068583;23118302;23121297;23171143;23247145;23320904;23359805;23360385;23391187;23410546;23444115;23446247;23457133;23588940;23593297;23631828;23637837;23669246;23683938;23685141;23685223;23697869;23701995;23723369;23726366;23775634;23788249;23827315;23973688;24001780;24069429;24092915;24097068;24100140;24106285;24173238;24254975;24265415;24362231;24404629;24418085;24447298;2445342;2450346;24515109;24797048;2495826;2563166;2567736;2883086;2932736;2994225;3001697;3012797;3022788;3024665;3030729;3087360;3095664;3284790;3346254;3426612;3455779;3461454;3464946;3513177;3522585;3621347;3652907;3659919;3676265;3680528;3759943;3763409;3773997;3841204;3841481;3860811;3860836;3903660;4345202;4363408;6099394;6373369;7126555;7592581;7853698;7883971;8245722;8300609;8889592;9012650;9252351;9259199;9490296;9548923;9565615;9685400;9694898;9765244;9915855 338 A8MUN2;P04114;Q59HB3;Q7Z7Q0 AB208846;ABBA01045079;AC010872;AC115619;AJ399514;AK290844;AMYH02003376;AY324608;BC051278;CH471053;HM487065;J02610;J04838;K03175;KF456638;M10374;M12413;M12480;M12681;M14081;M14162;M15053;M15421;M17367;M17779;M18036;M18471;M19734;M19828;M31030;M36676;NG_011793;NM_000384;X03045;X03324;X03325;X03326;X04506;X04714;X04867;X04868;X04869;X04870 AAA35541;AAA35544;AAA35548;AAA35549;AAA51741;AAA51742;AAA51750;AAA51751;AAA51752;AAA51753;AAA51754;AAA51755;AAA51756;AAA51758;AAA51759;AAA53373;AAA53374;AAB00481;AAB04636;AAB60718;AAH51278;AAP72970;AAX88848;AAX93246;ACX32319;ADN03360;BAD92083;BAF83533;CAA26850;CAA27043;CAA27044;CAA27045;CAA28191;CAA28420;CAA28558;CAA28559;CAA28560;CAA28561;EAX00801;EAX00802;EAX00803;NP_000375;P04114 Hs.120759 1657961;1684632;1694908;1740901;1740971;1740977;1740987;1741237;1741475;1741703;1741819;1741821;1741825;1741827;1742179;1745693;1776910;1795366;1856098;2147554;2147620;2157000;2163752;2164408;2167245;2173718;2177995;2181174;2184063;2184513;5020956;5118067;5119673;5119823 APOB;APOB_711;D2S2580;D2S2589;G44341;GDB:171933;GDB:177076;GDB:177093;GDB:177207;GDB:178354;GDB:179436;GDB:181235;GDB:182191;GDB:182192;GDB:185253;GDB:185254;GDB:185282;GDB:185295;GDB:193044;GDB:631915;GDB:681390;RH45452;RH68521;RH68973;RH69077;RH69778;RH70147;RH70400;RH80663;SGC34589;SHGC-33615;SHGC-33670;SHGC-34591;SHGC-56579 FLDB;LDLCQ4 OTTHUMP00000115994;apo B-100;apoB-100;apoB-48;apolipoprotein B (including Ag(x) antigen);apolipoprotein B-100;apolipoprotein B48;mutant Apo B 100 1643262;1643271 BW207_H;BW214_H APPROVED protein-coding ENSG00000084674 HGNC:603 00133 107730;144010;615558 REVIEWED 1351728 APOBEC3A apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 22 22 22 q13.1-q13.2 23155562 23161219 + 39348755 39359189 + 38957522 38963183 + 1580863;6480464 10469298;10591208;10737800;11863358;12477932;12539042;12683974;12859895;1286667;15461802;15489334;16344560;16407327;16527742;17447845;17727729;17977970;18403710;19008196;19038776;19461882;19788695;19911124;20012521;20062055;20178977;20615867;20972438;21123384;21279453;21460793;21906983;21957290;21963094;21995620;22272271;22457529;22798497;22822074;22948384;22977230;23000965;23640892;23695684;23840298;23979356;24163103;24163127;24227842;24728294 200315 B7ZLZ1;P31941 ABBA01055544;AL022318;AMYH02038370;BC126416;BC144146;BI029063;CH471095;CR456393;DB322320;NM_001270406;NM_145699;U03891 AAA03706;AAI26417;AAI44147;ADR82854;CAG30279;CAK54381;CAK54680;EAW60278;NP_001257335;NP_663745;P31941 Hs.226307 1658634;5015881;5021872;5022651;5037552 D11S2921;D8S2279;GDB:335751;STS-T64880;sY3084 A3A;ARP3;PHRBN;bK150C2.1 DNA dC->dU-editing enzyme APOBEC-3A;OTTHUMP00000198910;phorbolin 1;phorbolin-1;probable DNA dC->dU-editing enzyme APOBEC-3A APPROVED protein-coding ENSG00000128383 HGNC:17343 06168 607109 REVIEWED 1318670 APOBEC2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 ENCODES a protein that exhibits cytidine deaminase activity (inferred); RNA binding (inferred); zinc ion binding (inferred); INVOLVED IN DNA demethylation; INTERACTS WITH hydrogen peroxide; 17beta-estradiol (ortholog); benzo[a]pyrene (ortholog) 6 6 6 p21 42573621 42585311 + 41020940 41032630 + 41053201 41064891 + 1580863;6480464 10403781;11698249;12477932;12683974;14574404;15489334;17187054;18974842;19911124;20138841;21469143;8078915;8125298;8999814 10930 B4DUL0;Q9Y235 ABBA01050760;ABBA01050761;AF086496;AF161698;AI096570;AK223461;AK300689;AK308197;AK310006;AK313288;AL031778;AMYH02013601;BC047767;BC069688;BC069764;BI438931;CB051273;CH471081;NM_006789 AAD45360;AAH47767;AAH69688;AAH69764;BAD97181;BAG36096;BAG62372;EAX04009;NP_006780;Q9Y235 Hs.555915 1700362;2109051 APOBEC2_9198;RH103801 ARCD1;ARP1 OTTHUMP00000016367;apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2;probable C->U-editing enzyme APOBEC-2 protein-coding HGNC:605 07268 604797 VALIDATED 1344652 APOBEC3E apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene q13.1-q13.2 11863358 140565 AL022318 pseudo HGNC:17355 6480861 APOBEC3B-AS1 APOBEC3B antisense RNA 1 22 q13.1 38991559 38998220 - 100874530 ABBA01055544;ABBA01147319;AL022318;AMYH02038370;CX754295;HG512304;NR_104187 Hs.626951 APPROVED ncrna ENSG00000249310 HGNC:43836 VALIDATED 1317202 APOBEC3C apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23212300 23216878 + 39410265 39414843 + 39014260 39018838 + 6480464 10469298;10591208;11863358;12477932;12683974;12859895;14702039;15461802;15466872;15489334;15809227;15862967;15956565;16060832;16414984;16527742;16735504;17078485;17353931;17371941;17582006;17625792;17672864;17967058;17977970;18032489;18304004;18391217;18419775;18420796;18495196;18555089;18577210;18702815;18806783;18846074;19088851;19109396;19322201;19369234;19390611;19535450;19581596;19738201;19911124;20012521;20096141;20174454;20926562;20943965;21139048;21279453;21368204;21430060;21746770;21890473;21906983;21988832;22145963;22205746;22379088;22678362;22912627;22915799;22948384;23000965;23001005;23043103;23602568;23715497;23787464;24101588;24227842 27350 F8WB92;Q9NRW3 AB208979;ABBA01055545;ABBA01055546;AF165520;AK094570;AK313272;AL022318;AMYH02038370;BC011739;BC021080;CH471095;CQ834178;CR456394;KC329528;NM_014508 AAF86650;AAH11739;AGI04216;BAD92216;BAG36081;CAG30280;CAH05304;CAK54383;CAK54682;EAW60283;EAW60284;NP_055323;Q9NRW3 Hs.441124 2218234;5123219 APOBEC3C__4342;STS-N58010 A3C;APOBEC1L;ARDC2;ARDC4;ARP5;FLJ37251;MGC19485;PBI;bK150C2.3 APOBEC1-like;DNA dC->dU-editing enzyme APOBEC-3C;OTTHUMP00000199092;apolipoprotein B editing enzyme catalytic polypeptide-like 3C;phorbolin I;probable DNA dC->dU-editing enzyme APOBEC-3C APPROVED protein-coding HGNC:17353 09671 607750 REVIEWED 1604731 APOBEC3H apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 22 22 22 q13.1 23295267 23302100 + 39493229 39500072 + 39097224 39104067 + 6480464 12477932;12683974;15461802;16571802;18299330;18403710;18420796;18779051;18827027;18945781;19344514;19649317;19694548;19726537;19828612;19939923;20096141;20174454;20308164;20519393;20519396;21167246;21270145;21653666;21835787;22013041;22023594;22203821;22205746;22457529;22720156;22859935;22912627;22915799;23043100;23043103;23097438;23202519;23217182;23388464;23430691;23469063;23755966;23787464;23825473;24139399;24189052;24227842;24361275;24942576;25053361 164668 B7TQM3;B7TQM9;Q6NTF7 ABBA01055549;ABBA01055550;AL031846;AMYH02038371;AMYH02038372;BC069023;BQ052182;BQ054330;BU585251;CH471095;CR456481;FJ376611;FJ376612;FJ376613;FJ376614;FJ376615;FJ376616;FJ376617;KC329529;KF457460;NM_001166002;NM_001166003;NM_001166004;NM_181773 AAH69023;ACK77772;ACK77773;ACK77774;ACK77775;ACK77776;ACK77777;ACK77778;AGI04217;CAG30367;EAW60294;EAW60295;EAW60296;NP_001159474;NP_001159475;NP_001159476;NP_861438;Q6NTF7 Hs.440515 1771297 D22S1134 A3H;ARP-10;ARP10;dJ742C19.2 APOBEC-related protein 10;DNA dC->dU-editing enzyme APOBEC-3H;OTTHUMP00000199085;OTTHUMP00000199086;apolipoprotein B editing enzyme catalytic polypeptide-like 3H;apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3H APPROVED protein-coding ENSG00000100298 HGNC:24100 16508 610976 REVIEWED 1347030 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 22 22 22 q13.1-q13.2 23180435 23190818 + 39378352 39388784 + 38982399 38992779 + 1580863;6480464 10469298;10591208;11337467;11863358;12477932;12683974;12859895;15269786;15296758;15461802;15466872;15489334;16060832;16407327;16414984;16527742;16648136;16699599;17020885;17067930;17083721;17303427;17447845;17977970;18024895;18304004;18403710;18577210;19008196;19038776;19698078;19911124;20104108;20174454;20684727;21139048;21715505;21878639;21906983;21963094;21995620;22108670;22446380;22457529;22720156;22912627;22915799;23000965;23043103;23150777;23213177;23389445;23542011;23598277;23852168;24010642;24153179;24154874;24227842;24457600;24728294 9582 B0QYD3;Q9UH17 ABBA01055544;AK024854;AL022318;AMYH02038370;AU098564;AY743217;BC031803;BC053859;BX114955;CH471095;CT841510;KF651167;NM_001270411;NM_004900;U61083;U61084 AAD00089;AAD00090;AAH53859;AAW31743;AHF72554;CAJ86440;CAK54382;CAK54462;CAK54681;CAK54761;EAW60279;EAW60280;EAW60281;EAW60282;NP_001257340;NP_004891;Q9UH17 Hs.226307;Hs.658626 1658634 STS-T64880 A3B;APOBEC1L;ARCD3;ARP4;DJ742C19.2;FLJ21201;PHRBNL;bK150C2.2 DNA dC->dU-editing enzyme APOBEC-3B;OTTHUMP00000199088;OTTHUMP00000199089;OTTHUMP00000199090;apolipoprotein B mRNA editing enzyme catalytic polypeptide-like 3B;cytidine deaminase;phorbolin 2;phorbolin 3;phorbolin-1-related protein;phorbolin-2/3;probable DNA dC->dU-editing enzyme APOBEC-3B APPROVED protein-coding ENSG00000179750 HGNC:17352 06169 607110 REVIEWED 1345786 APOBEC3F apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23238709 23254010 + 39436609 39451977 + 39040604 39055972 + 1580863;6480464 10591208;11863358;12167863;12477932;12683974;12808465;12808466;12809610;12859895;12970355;14527406;14528300;14528301;14557052;14557625;14565218;14702039;15031497;15054139;15141007;15152192;15296757;15461802;15489334;15647250;16014920;16344560;16378963;16460778;16501124;16527742;16641889;16648136;16699599;16767679;16940537;17020885;17038330;17067930;17121840;17142455;17145955;17303427;17428847;17459442;17522216;17609216;17977970;18067920;18262674;18304004;18367521;18448538;18541215;18577210;18603011;18604271;18619467;18806783;18846074;18976920;19008196;19036809;19038776;19088851;19109396;19149995;19169351;19344514;19487726;19535447;19535450;19561087;19587057;19649317;19669862;19826902;19837465;19939923;19944180;20012521;20096141;20153011;20174454;20219927;20299747;20335268;20538015;20592068;20592083;20610708;20624919;20686027;20702622;20844042;20943965;20971849;21044950;21139048;21279453;21396348;21573951;21741003;21835787;21897871;21994560;21994586;21994608;22013041;22203821;22205746;22286874;22315404;22379088;22451677;22647704;22695298;22720156;22807680;22855686;22912627;22915799;23001005;23028129;23043100;23043103;23080486;23097438;23202519;23318957;23330719;23430691;23536679;23685212;23787464;23825473;23926332;23971925;24227842;24390320;24457600;24503066;24623435;8570611;8889548 200316 Q8IUX4 ABBA01055546;ABBA01055547;AK294810;AL022318;AMYH02038371;BC038808;BE888653;BE892372;BG280786;BG744406;BG758984;BM681311;BQ056344;BQ182066;BQ941658;BX367450;CH471095;CR456395;CX165430;DA221480;DQ146365;JF262037;KC329530;NM_001006666;NM_145298;U38435;XR_244357 AAH38808;AAZ38720;AEA39617;AGI04218;BAG57929;CAG30281;CAK54384;CAK54683;EAW60288;EAW60289;NP_001006667;NP_660341;Q8IUX4 Hs.659809 2144544;5015879;5016478;5017227;5017266;5020414;5022200;5022578;5037552;5118444 D11S3316;D1S1423;D8S2279;G18167;G38154;GDB:314949;GDB:434012;L17688;L18426;L18506 A3F;ARP8;BK150C2.4.MRNA;KA6;MGC74891 DNA dC->dU-editing enzyme APOBEC-3F;OTTHUMP00000199082;OTTHUMP00000199083;apolipoprotein B editing enzyme catalytic polypeptide-like 3F;apolipoprotein B mRNA editing enzyme cytidine deaminase;apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3F;induced upon T-cell activation APPROVED protein-coding HGNC:17356 16415 608993 REVIEWED 1345381 APOBER1 apolipoprotein B mRNA editing enzyme regulator 340 HGNC:606 1349209 APOBEC3D apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23219153 23231291 + 39417118 39435686 + 39021113 39039681 + 1580863;6480464 10591208;10737800;11863358;12477932;12683974;12859895;15269786;15461802;15496550;15516966;16344560;16648136;16920826;18304004;18577210;19008196;19038776;19088851;19344514;19535450;19649317;19738201;20012521;20096141;20174454;20943965;21835787;22203821;22205746;22505724;22720156;22807680;22912627;22915799;23001005;23043100;23043103;23097438;23755966;24227842 140564 B2CML4;Q6ICH2;Q96AK3 ABBA01055546;AL022318;AMYH02038371;BC017022;BE888971;BF832090;BM917407;BX340829;CH471095;CR456396;DA287097;DB121958;EU527884;NM_152426;XM_005261335;XM_005261337;XM_006724139 AAI48620;AAI53186;ACB32248;CAG30282;CAK54385;CAK54684;EAW60285;EAW60286;NP_689639;Q96AK3;XP_005261392;XP_005261394;XP_006724202 Hs.629775;Hs.658626 2144544;2162869;5015619;5037552 D11S3114;D8S2279;G18167;RH65953 A3D;APOBEC3DE;APOBEC3E;ARP6 DNA dC->dU-editing enzyme APOBEC-3D;OTTHUMP00000199087;apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative);apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene;probable DNA dC->dU-editing enzyme APOBEC-3D APPROVED protein-coding ENSG00000243811 HGNC:17354 16501 609900 REVIEWED 1349849 APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. The protein encoded by this gene has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. [provided by RefSeq, Jul 2008] 22 22 22 q13.1-q13.2 23275044 23285782 + 39473010 39483748 + 39077005 39087743 + 1580863;6480464;8554872 10591208;11863358;12167863;12477932;12683974;12719574;12750511;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14557052;14557625;14564014;14565218;14614829;14672928;14702039;14747572;14966139;14978281;14999100;15031497;15054139;15080177;15098018;15116720;15152192;15156567;15159405;15168739;15177194;15210704;15215254;15245742;15269786;15286366;15297452;15353294;15358144;15373943;15383144;15452227;15461802;15464836;15479826;15479846;15489334;15537645;15574592;15574593;15578976;15581898;15609224;15611076;15613310;15647250;15674295;15721369;15781449;15823539;15943885;16000409;16169070;16250885;16303161;16344560;16354571;16378963;16414984;16418394;16426578;16460778;16501124;16527742;16530799;16571802;16622407;16631224;16641260;16641889;16678488;16699599;16710452;16731938;16822376;16874860;16887808;16940537;16971427;16988524;17020885;17023652;17030807;17036163;17049578;17052331;17064466;17065315;17067930;17079095;17079235;17083721;17121840;17126871;17135358;17142455;17145955;17161027;17166910;17212712;17237417;17251560;17259974;17267497;17272283;17291161;17303427;17314171;17331040;17338854;17344295;17374143;17428847;17440614;17459442;17517765;17522211;17522216;17586316;17609216;17631688;17670826;17727729;17824250;17825339;17848567;17849022;17855362;17869248;17869271;17881443;17886715;17892323;17898068;17916373;17928335;17942420;17959647;18023836;18029348;18036235;18077705;18165230;18184715;18262674;18272764;18288108;18298807;18304004;18308358;18326044;18338854;18362149;18366335;18367521;18391217;18414671;18414697;18420796;18448538;18456846;18480459;18495196;18499212;18501607;18541215;18572219;18577210;18597676;18603011;18604271;18619467;18639915;18647522;18652534;18667511;18675436;18680593;18684817;18789977;18806783;18809921;18819469;18827027;18836454;18842592;18843993;18846074;18849968;18851679;18971252;18976462;18976920;18987139;19004939;19004943;19008196;19020832;19027180;19036809;19038776;19050398;19057663;19088851;19109396;19128510;19136562;19149577;19149995;19153609;19169351;19197360;19211937;19216784;19254362;19266078;19297501;19300495;19304304;19324886;19343218;19344514;19345973;19357165;19371434;19389408;19401538;19487726;19494012;19497112;19535442;19535447;19535450;19560422;19561087;19585516;19587057;19649317;19669862;19694548;19717177;19776130;19826902;19837465;19841153;19886996;19887642;19910370;19939923;19944180;19996938;20012521;20012529;20015971;20018238;20023216;20038599;20096141;20104108;20128960;20147392;20152150;20153011;20174454;20212048;20219919;20219927;20299747;20335268;20338830;20363737;20463065;20463074;20463080;20510315;20523896;20538015;20571604;2059206;20592083;20610708;20624919;20636339;20638642;20642434;20668078;20668529;20833716;20844042;20874421;20939174;21071676;21078663;21123176;21147461;21147467;21149631;21152581;21182427;21217078;21228271;21239176;21279453;21300806;21345952;21370050;21393191;21396348;21480314;21489586;21571098;21573951;21659520;21698207;21734563;21737457;21741003;21752914;21763507;21784078;21832049;21856286;21874023;21890473;21897871;21934670;21935481;21972557;21985787;21994586;21994608;22013041;22017399;22152111;22190036;22190037;22203821;22205746;22218868;22272271;22274659;22301159;22315404;22339232;22346743;22347227;22362763;22369580;22379088;22509177;22553496;22555953;22579353;22645179;22647704;22695298;22725134;22728817;22787460;22791714;22807680;22809226;22828015;22855686;22894923;22912627;22970171;22999946;23043100;23080486;23097438;23128233;23138837;23152537;23175372;23189135;23202519;23255806;23271983;23300442;23316055;23318957;23411593;23430691;23432984;23536679;23545135;23555255;23576497;23596292;23598277;23621690;23640893;23696735;23707381;23717565;23724012;23760237;23787464;23831493;23890083;23926332;23986590;23988114;24010642;24055458;24089548;24098115;24098356;24146808;24185281;24198285;24227842;24345943;24422669;24522927;24623435;9811770;9846577 60489 Q05JX5;Q9HC16 AB266487;ABBA01055548;AF182420;AK022802;AK092614;AK093635;AK310279;AK315650;AL022318;AL078641;AMYH02038371;BC009683;BC024268;BC061914;CH471095;CR456472;DA457434;DQ147772;JF262036;JX915801;KC329531;NM_021822;XM_006724290 AAG14956;AAH24268;AAH61914;AAZ38722;AEA39616;AGI04219;AGS14892;BAF34652;BAG38016;CAG30358;CAK54453;CAK54752;EAW60292;NP_068594;Q9HC16;XP_006724353 Hs.660143 1729197;5020988;5022578;5037552;5122683 D1S1423;D1S2481;D22S958;D8S2279;UniSTS:146584 A3G;ARCD;ARP-9;ARP9;CEM-15;CEM15;FLJ12740;MDS019;bK150C2.7;dJ494G10.1 APOBEC-related cytidine deaminase;APOBEC-related protein 9;DNA dC->dU editing enzyme;DNA dC->dU-editing enzyme APOBEC-3G;OTTHUMP00000199084;apolipoprotein B editing enzyme catalytic polypeptide-like 3G;apolipoprotein B mRNA editing enzyme cytidine deaminase;apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3G;deoxycytidine deaminase;phorbolin-like protein MDS019 APPROVED protein-coding ENSG00000239713 HGNC:17357 06172 607113 REVIEWED 1606067 APOBEC4 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. [provided by RefSeq, Jul 2008] 1 1 1 q25.3 156726442 156733480 - 183615410 183622448 - 183646275 183653313 - 6480464 12477932;14702039;15489334;16082223;16710414;19911124;23273568 403314 Q8WW27 ABBA01027746;AI961390;AK098557;AL137800;AMYH02002284;BC021711;CH471067;NM_203454 AAH21711;ADZ15918;BAC05332;EAW91169;NP_982279;Q8WW27 Hs.97335 C1orf169;MGC26594 OTTHUMP00000033512;apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 4;putative C->U-editing enzyme APOBEC-4 APPROVED protein-coding ENSG00000173627 HGNC:32152 17522 609908 REVIEWED 1342905 APOC1P1 apolipoprotein C-I pseudogene 1 19 19 19 q13.2 42234383 42238966 + 45430060 45434643 + 44926803 44931386 + 6480464 11752456;16344560;16712791;20209111;22359512;2835369 342 ABBA01040895;ABBA01040896;AC011481;AMYH02036184;AV645786;CB162526;DA636997;DA638554;EF553526;M20903;NR_028412;NR_028413;NR_028414 Hs.110675;Hs.729930 1660896;1792822 PMC164795P2;STS-M20903 DKFZp781C1677 pseudo ENSG00000214855 HGNC:608 VALIDATED 735472 APOC1 apolipoprotein C-I The protein encoded by this gene is a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 42222238 42226929 + 45417577 45422606 + 44914320 44919349 + 1578472;1578471;1580863;1578426;2313951;2313950;2313953;2313948;2325793;6480464 10073946;11714102;11723061;11825674;12753304;15876873;17310220;3757210 10391210;10520737;10978346;11054415;11076863;11162594;11256614;11702052;11991719;12032151;12044170;12113906;12220441;12429068;12477932;12678662;12705839;12736801;12805445;12860251;12962909;14523051;14705977;14746139;15077570;15174051;15339254;15364690;15489334;15489336;15576844;15767578;15769335;15777558;15793777;15840864;15900219;16159884;16381901;16459141;16478678;16544732;16608402;16631424;166984;16763159;16935938;16981907;17053273;17254710;17339654;17341095;17463246;17474819;17667986;17761674;17936795;17975299;17998437;18037960;18049452;18160739;18193043;18193044;182536;18262040;18667498;18802019;18835943;18976728;18984910;18992221;19014618;19060906;19062221;1917954;19197348;19252179;19336475;19336575;19368908;19417222;19494537;19567438;19761869;19785722;19808960;19812053;19913121;19936222;20145290;20209111;20308432;20331378;20339536;20430392;20442857;20498921;20571754;20580041;20628086;20686565;20691829;20714348;20838585;20864672;20880607;20972250;21103663;21187063;21196492;21267442;21300955;21533863;21740922;21900206;21909108;21943158;22003152;22005931;22022282;22054870;22264166;22286219;22404376;22474067;22710912;22832961;22916037;22995522;2302419;23031429;23118302;23383108;23419831;23455636;23555584;23620136;23670531;23726366;24023261;24097068;24121499;2835369;2897845;2985493;3013172;3017837;4020294;4369340;6328444;6789904;7471419;7779782;8125298;8432525;8804993;9300485 341 K7EJI9;K7EKP1;K7ELM9;K7ELU7;K7EPF9;K7EPR9;K7ERI9;P02654 ABBA01040892;ABBA01040893;ABBA01040894;AC011481;AF050154;AF308154;AI310334;AI885116;AK225971;AK312036;AMYH02036184;AY422954;BC009698;BC055093;BT007142;CH471126;CR456907;FJ525874;M20843;M20902;M27359;NG_012859;NM_001645;X00570;XM_005258855 AAA51762;AAA51763;AAA88018;AAD02506;AAG49499;AAH09698;AAH55093;AAP35806;AAQ91813;ACN81312;ACT64518;ACT64519;BAG34973;CAA25235;CAG33188;CAL37605;EAW57307;EAW57308;NP_001636;P02654;XP_005258912 Hs.110675;Hs.737668 1792822 PMC164795P2 apo-CIB;apoC-IB;apolipoprotein C-I variant I;apolipoprotein C1 1643251 BW139_H APPROVED protein-coding ENSG00000130208 HGNC:607 00131 107710 REVIEWED 7379003 APOC4-APOC2 APOC4-APOC2 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring apolipoprotein C-IV (APOC4) and apolipoprotein C-II (APOC2) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011] 19 19 q 45445495 45452822 + 44942238 44949565 + 6480464;8554872 14702039;20967262;8530039 100533990 K7ER74 ABBA01040897;ABBA01040898;AC011481;AK126257;AMYH02036185;NG_008837;NR_037932 BAG54298 Hs.731599 1677400;2166636 RH18398;RH91449 ncrna HGNC:44426 VALIDATED 1352001 APOC2 apolipoprotein C-II This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011] 19 19 19 q13.2 42253565 42257132 + 45449239 45452822 + 44945982 44949565 + 1599175;1358408;1358409;1601191;1601207;1601205;1601212;1601206;1601208;1580863;1578471;1601204;1601214;2313970;2313973;2313966;2313953;2313968;6480464;7240710;8554872;8699517 10073946;10335523;12450397;12733353;1468157;16153625;1782747;2242096;2352345;3757210;3944267;7590197;7923858;8139482;8366982;8490626;9002300 10391210;10727238;11162594;11310852;11579204;11751863;11752456;11930616;12032151;12220441;12477932;12590574;12682050;12782148;12783430;14718574;14746139;15031287;15174051;15489334;1555583;15778093;15878877;16432277;16459141;16682745;16763159;16968945;17018885;17174330;17222387;17336988;17429947;17717288;17855807;18005990;18193044;18206908;182536;18660489;18802019;18852267;19014618;19034041;19060906;1917954;19197348;19336370;19336475;194244;19534808;1971748;19878569;19913121;19948975;20031551;20042600;20331378;20430392;20498921;20571754;20628086;20634891;20686565;20714348;20864672;20972250;21146539;21321243;21476595;21943158;21985034;2209608;22239554;22244853;22286219;22808166;23159935;23631828;2415514;2477392;3014272;3030808;3192518;3263393;3467353;3474626;3525527;3558370;3680515;3944271;4020294;4345202;6328445;6328478;6546757;6593704;6706938;7815420;8112221;8245722;8323539;8530039 344 P02655;Q6P163;V9GYJ8;V9GZ01 AA883870;ABBA01040898;AC011481;AF113884;AMYH02036185;AV694494;AY422955;BC005348;BC065270;BT006708;BU596546;CH471126;FJ525875;J02698;M10612;M29844;NG_008837;NM_000483;X00568;X05151 AAA51743;AAA98743;AAB59380;AAD28193;AAH05348;AAH65270;AAP35354;AAQ91814;ACE87064;ACE87745;ACN81313;CAA25234;CAA28798;EAW57311;EAW57312;EAW57313;NP_000474;P02655 Hs.75615 1677400;1740885;1740893;1741251;1741607;2127069;2166636;2175931;2217020 APOC2_2725;GDB:171122;GDB:171136;GDB:179875;GDB:181560;RH18398;RH36305;RH46551;RH91449 APO-CII;APOC-II;MGC75082 apolipoprotein C2 1643251 BW139_H APPROVED protein-coding ENSG00000224916 HGNC:609 07457 207750;608083 REVIEWED 1342697 APOEL1 apolipoprotein E-like 1 1505951 349 HGNC:614 1607021 APOBR apolipoprotein B receptor Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008] 16 16 16 p11 27693485 27697774 - 28505970 28510291 + 28494649 28498970 + 6480464;8554872 10852956;12477932;15591219;15830122;19946888;21367954;22190030;23519644 55911 Q0VD83 ABBA01043652;AC138894;AF141332;AF141333;AF141334;AK025123;AK075085;AMYH02031790;BC119786;BC119788;CH471279;NM_018690 AAF76255;AAF76256;AAF78765;AAI19787;AAI19789;EAW52278;EAW52279;EAW52280;NP_061160;Q0VD83 Hs.200333 1743451 GDB:335745 APOB100R;APOB48R apoB-48R;apolipoprotein B-100 receptor;apolipoprotein B-48 receptor;apolipoprotein B100 receptor;apolipoprotein B48 receptor APPROVED protein-coding ENSG00000184730 HGNC:24087 05561 605220 REVIEWED 737460 APOD apolipoprotein D This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008] 3 3 3 q29 193705274 193720781 - 195295573 195311076 - 195568702 195584205 - 1580863;2311203;2311202;2311209;2311178;2311179;2311196;2311182;2311177;2311180;6480464;8554872 10372566;10501208;11444882;15369805;17851453;6828336;7895459;7913935;9751198 10391209;11058760;11344130;11744388;12052480;12363390;12477932;12497622;12837283;12873803;14500696;14551159;14596852;14718574;14760718;15192024;15316799;15489334;15862967;15916898;16169070;16335952;16344560;16402085;16437381;16502470;16966838;17353931;17601350;17885669;18330697;18419796;18458334;18671953;18842892;18977241;18979643;19056867;19176353;19330472;19519777;19723339;19878569;19913121;19944460;20430392;20493910;20628086;2083249;20855565;21145461;21182205;21319273;21429623;21526344;21705670;2244881;22479522;23296401;23602568;23690001;23715769;23777559;23895740;24167586;2439269;2891117;3104518;3453108;6774335;7613477;7918467;8549691;8692868;8889548;9278274 347 C9JF17;C9JX71;F8WBT9;P05090 ABBA01001604;AC069213;AK294523;AK312090;AMYH02008473;BC007402;BQ008672;BT019860;BT019861;BU195270;BU727194;CH471052;CR456838;CR541773;DA892855;J02611;M16648;M16649;M16695;M16696;NM_001647;S80440 AAA51764;AAB35919;AAB59517;AAH07402;AAV38663;AAV38664;ABM83594;ABM87123;BAG35026;BAG57734;CAG33119;CAG46572;EAW78023;EAW78024;NP_001638;P05090 Hs.522555 1337811;1741421;1858414;2131129;2135362;2151167;7186881;7187888;7187893 D3S1305;GDB:181196;RH69430;STS-J02611;STS-W81076;WI-18936 apo-D OTTHUMP00000208785;OTTHUMP00000208787;OTTHUMP00000208788 1643508 BW262_H APPROVED protein-coding ENSG00000189058 HGNC:612 00134 107740 REVIEWED 1321637 APOH apolipoprotein H (beta-2-glycoprotein I) Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 60780183 60797591 - 64208147 64225556 - 66212029 66229438 - 1578489;1580863;2313984;2313985;2313986;2313988;2313989;2313990;2313992;2313982;2313983;2313991;6480464 11302005;11795690;14595478;15322656;15507263;16126948;17626983;18695102;6613192;9377806;9472678 10508150;10562535;10809787;11434778;11686326;11816715;11953211;12031135;12038453;12124280;12139935;12235181;12362233;12371681;12428105;12440522;12441378;12471146;12477932;12495080;12495081;12562869;12571857;12590955;12605674;12648080;12673579;12807892;12887738;12918732;12970918;1339416;1426288;14601646;14644075;14707422;14718574;14719180;14726399;14760718;14768953;15025925;15084671;15094940;15252864;15486070;15488942;15489334;15507264;15522884;15534879;15641049;15653437;15821830;1582254;15916797;15956288;1602135;16038107;16159595;16199891;16335952;16480936;1650181;1655523;16603439;16625500;16686261;16724168;16740002;16855163;16879209;16905548;16938165;16960938;17053060;17057945;17096706;17200780;17255364;17469158;1748314;17603016;17662972;17715943;17726161;1777418;17872974;18029348;18029906;18034767;18073216;18093092;18205270;18328538;18383370;18452581;18495556;18521522;18624398;18676959;18777117;18822289;18996102;19002041;19052923;19069167;19132787;19248095;19275896;19350132;19578796;19676115;19694946;19706343;19706887;19715922;19758193;19805618;19851667;19878946;19913121;19965629;20004024;20026018;20029801;20089041;20140737;20204408;20237496;20440842;20539917;20581778;20601596;20602615;20628086;20629942;20665665;20874780;20979592;21240499;21454452;21478209;21498672;21501325;21535391;21602492;21618459;21899894;21999151;22056596;22246055;222615;22358146;22394675;22399073;22427365;22635228;22635233;22940059;22956423;22964479;23214196;23279374;23467542;2349221;23578283;23692565;23713583;23954892;24097068;24165912;24315780;25015289;3361230;4052628;6403535;6587378;7078428;7417307;8099061;8139027;8460120;8989432;9058203;9063752;9155091;9225969;9269765;9352386;9596664;9727058;9914524 350 J3KS17;J3QLI0;J3QRN2;P02749 ABBA01029032;ABBA01029033;ABBA01029034;AC006120;AK298416;AK313838;AMYH02033815;AY322156;BC020703;BC026283;BG566874;BM005736;CH471099;HM212425;M62839;NG_012045;NM_000042;S80305;X53595;X57847;X58100;Y11493;Y17754 AAA51766;AAB21330;AAH20703;AAH26283;AAP72014;ABM82288;ABM85468;ADJ96598;BAG36570;BAG60642;CAA37664;CAA40977;CAA41113;CAA72279;CAA76845;EAW89012;EAW89013;NP_000033;P02749 Hs.445358 1659327;1668814;1742779;2125541;5111925 G43003;GDB:206667;RH11628;RH47133;RH66220 B2G1;B2GP1;B2GPI;BG;apo-H APC inhibitor;activated protein C-binding protein;anticardiolipin cofactor;beta(2)GPI;beta-2-glycoprotein 1 APPROVED protein-coding ENSG00000091583 HGNC:616 00728 138700 REVIEWED 736043 APOC4 apolipoprotein C-IV This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene. [provided by RefSeq, Mar 2011] 19 19 19 q13.2 42249817 42253073 + 45445495 45448753 + 44942238 44945496 + 1580863;6480464 10996355;11752456;12032151;12477932;12700345;15489334;16335952;16344560;16763159;17154273;18193043;18193044;18802019;18809223;19060906;19197348;19336475;19913121;20331378;20430392;20498921;20571754;20602615;20628086;20714348;20855565;20864672;20972250;21103663;21943158;8530039;8827523;8910501 346 K7EMC3;P55056 ABBA01040897;ABBA01040898;AC011481;AMYH02036185;AV690709;AY422953;BC020723;CH471126;DB185657;EF371378;HC250943;HC311132;NG_008837;NM_001646;U32576 AAA91653;AAH20723;AAQ91812;ABQ40075;CBJ05769;CBJ21221;EAW57310;NP_001637;P55056 Hs.731599 2127069;2166636 RH18398;RH46551 APO-CIV;APOC-IV apolipoprotein C4 1643251 BW139_H APPROVED protein-coding ENSG00000267467 HGNC:611 02848 600745 REVIEWED 737569 APOC3 apolipoprotein C-III Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 113858439 113861589 + 116700624 116703787 + 116829908 116833071 + 1578443;1331525;1601191;1601223;1601226;1601224;1599190;1580863;1578471;1578441;1578447;1578444;1601225;1578442;1626412;2313970;2313973;2306767;2306754;2306768;2306771;2306765;2306755;2306766;2313968;2313972;5685674;6480464;5685676;7207220;7240710;7207208;7207209;7207210;7207211;7207212;7207205;7207207;8699517;8554872 10073946;10428310;10822722;11959336;14709372;15059615;15118671;15642486;15715433;15734841;1579407;15863838;16298371;16321685;16505251;16813599;17416293;17654446;17957542;18805913;20797315;21297177;21613792;21670290;21829457;22160518;2352345;2879788;7705829;8139482;8366982;8429259;9002300;9062353;9812922 10870325;11060345;11116069;11126401;11152845;11162594;11171287;11181747;11193221;11270684;11282888;11284423;11341749;11359462;11427182;11443500;11472750;11500189;11512679;11533368;11572515;11575217;11605014;11714857;11737222;11740190;11837227;11839757;11840804;11893778;11903304;12048121;12048138;12052247;12082170;12082592;12116231;12118856;12176399;12189450;12235176;12401896;12417525;12477932;12514935;12556235;12588953;12600077;12676816;12691171;12692252;12697301;12732844;12754559;12782148;12962772;12964943;14517726;14563827;14569462;14612212;14650351;14718574;15019539;15039125;15076187;15108119;15117734;15124908;15151505;15161788;15174051;15175273;15292332;15304365;15364160;15375785;15488874;15489334;15542401;15549499;15576429;15576844;15585206;15598690;15649902;15657615;15764642;15778093;15809899;15823278;15862889;15864534;15868628;15910632;15924804;15949705;15962178;15983323;16015281;16030523;16136540;16192625;16205020;16276364;16326171;16343038;16410456;16417409;16430904;16443932;16495512;16602826;16682041;16702309;16705465;16710093;16763159;16769999;16781717;16861622;16864937;16917759;16935699;16968945;16973241;17016614;17020471;17032446;17038637;17142127;17154273;17197160;17261136;17283453;17314277;17318300;17336988;17342071;17367769;17378725;17438339;17457002;17615573;17672999;17700364;17726453;17825930;17853951;17855807;17885207;17919884;17964293;17996965;18020971;18034366;18096054;18179892;18187430;18188530;18193043;18193044;18206649;18240956;182536;18274205;18289550;18399797;18408013;18509206;18513389;18541587;18556566;18560672;18566295;18635818;18660489;18678879;18753860;18767813;18789138;18801202;18823627;18835943;19000312;19034316;19056482;19057464;19060906;19060911;19074352;19131662;19166692;1917954;19207029;19263529;19322776;19336370;19336475;19403283;19424489;19479237;19501493;19502413;19534808;19578796;19592705;19622837;19656773;19689828;19701693;19732897;19785722;19850743;19878569;19910636;19913121;19932084;19948975;20002542;20031551;20071361;20097930;20139978;2022742;20303494;20331378;20335584;20368524;20452482;20517165;20536507;20602615;20628086;20673868;20674306;20686565;20714348;20716347;20727869;20855565;20864672;21033077;21080234;21103663;21183731;21185820;21267442;21274868;21321243;21373834;21378990;21421846;21499891;21603779;21646779;21663607;21676879;21767760;21777557;21829161;21854571;21909109;21939545;21986282;21988832;22004016;22023023;22054125;22101237;22141340;22197810;22211242;22286219;22301884;22675253;22848358;22916037;22924697;23173569;23377670;23505323;23512881;23527852;23631828;23804528;23808989;24121499;24211975;24242684;24343240;24386095;24941081;24941082;2989400;3095836;3123586;3931073;3931677;3935800;3949020;3973011;4020294;4066713;4345202;4846755;6308458;6328445;6404278;6439535;6548954;8099442;8245722;9254056 345 A3KPE2;B0YIW2;C9J2Q0;P02656 ABBA01039746;AMYH02025623;AP006216;AY422951;AY555191;BC027977;BC121081;BC134419;CH471065;CQ924609;EF444950;J00098;JC185289;M28613;M28614;M33043;NG_008949;NM_000040;V01513;X00567;X01388;X01392;X03120 AAA51760;AAA51761;AAB59372;AAB59515;AAH27977;AAI21082;AAI34420;AAQ91810;AAS68230;ABM82970;ABM86164;ACA05940;ACA05941;ACA05942;CAA24757;CAA25233;CAA25644;CAA25648;CAA26895;CAI23899;CDM21968;EAW67272;EAW67273;NP_000031;P02656 Hs.73849 1669174;1669176;1695008;1740967;1741177;1741341;1745789;1806236;1808162;1824550;1825184;1840054;1842180;1845252;1849414;2004090;2004092;2004094;2004096;2004098;2004100;2004102;2004104;2004106;2004108;2004110;2004112;2004114;2004116;2004118;2004120;2004122;2004124;2004126;2004128;2096972;2096974;2096976;2107843;2147419 APOC3;APOC3_7748;D11S4370;D11S4435;ECD04073;ECD05062;ECD13373;ECD13693;ECD21211;ECD22293;ECD23843;G44717;GDB:176981;GDB:178433;GDB:180740;GDB:636456;REN72957;REN72958;REN72959;REN72960;REN72961;REN72962;REN72963;REN72964;REN72965;REN72966;REN72967;REN72968;REN72969;REN72970;REN72971;REN72972;REN72973;REN72974;REN72975;REN72976;RH66448;stSG601810;stSG601811;stSG601812 APOCIII;HALP2;MGC150353 OTTHUMP00000043270;OTTHUMP00000069353;apo-CIII;apoC-III;apolipoprotein C3 APPROVED protein-coding ENSG00000110245 HGNC:610 00132 107720;614028 REVIEWED 1320008 APOL2 apolipoprotein L, 2 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12 20424825 20438568 - 36622255 36636000 - 36226209 36239954 - 1580863;6480464;7240710 10591208;11290834;11374903;11944986;12477932;14702039;15107424;15489334;15949655;18632255;19946888;20602615;20665705;21890473;21906983;21987572;22505724;23000965;7566098 23780 B0QYK8;E9PM95;J3KQL8;Q9BQE5 AB208990;ABBA01055436;AF305225;AF305429;AF324223;AF324224;AF324230;AK056938;AK303978;AL031426;AMYH02038314;BC004395;CH471095;KF457434;NG_023229;NM_030882;NM_145637;XM_006724217;XM_006724218;Z82215;Z95114 AAH04395;AAK11592;AAK11593;AAK11598;AAK20211;AAL09359;ABM84357;ABM87743;BAB71315;BAD92227;BAG64897;EAW60087;EAW60088;EAW60089;NP_112092;NP_663612;Q9BQE5;XP_006724280;XP_006724281 Hs.474740 1338963;1677500;1733244;1795368;1795370;1858345;2130419;2159350 AL021679;APOL2_299.2;APOL3_301;D22S1173;D22S541;D22S592;D22S924;RH80142 APOL-II;APOL3 OTTHUMP00000198078;OTTHUMP00000198079;OTTHUMP00000198080;OTTHUMP00000235928;apolipoprotein L-II;apolipoprotein L2 APPROVED protein-coding ENSG00000128335 HGNC:619 06263 181500;607252 REVIEWED 1344329 APOF apolipoprotein F The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 56407715 56409943 - 56754355 56756583 - 56360571 56362799 - 1580863;6480464;8554872 12477932;12907677;14718574;15172102;15489334;17207965;17901467;18369235;19878569;20331378;204339;20602615;20691829;20855565;21937674;24144296;24211198;6816269;8093033;9880564 319 Q13790 ABBA01008424;AC025574;AK314892;AMYH02026568;BC026257;CH471054;CR936663;L27050;NM_001638 AAA65642;AAH26257;ADQ32134;BAG37406;EAW96938;NP_001629;Q13790 Hs.534302 1660175 STS-L27050 Apo-F;DKFZp781G18150;LTIP;MGC22520 OTTHUMP00000244253;lipid transfer inhibitor protein APPROVED protein-coding ENSG00000175336 HGNC:615 00137 107760 REVIEWED 1348736 APOL1 apolipoprotein L, 1 This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 22 22 22 q13.1 20451685 20466145 + 36649117 36663577 + 36253071 36267531 + 1580863;6480464;6907045;7240710;8554872;8699517 10591208;10946010;11290834;11374903;11944986;12477932;12621437;12837283;14718574;15489334;15500911;15604524;15949655;16020735;16335952;16344560;17154273;17192540;17360487;17845074;18505729;18632255;18850207;18927493;19239905;19324878;19913121;20483474;20602615;20628086;20635188;20647424;20668430;20805508;20855565;21080072;21486385;21537348;21698141;21910715;21931123;21968148;21997392;21997394;21997396;21997397;21997398;22119407;22135313;22239288;22357707;22487534;22495294;22569246;22691369;22695330;22832513;22878977;22956460;23082501;23107266;23300552;23438974;23520206;23677244;23715117;23766536;23768513;23860441;24011553;24119848;24173214;24206458;24231663;24379297;24504811;24518129;24731740;24808134;24899058;9325276 8542 B1AH94;B1AH95;B1AH96;F8WB77;F8WCH3;O14791;Q2KHQ6 ABBA01055436;ABBA01055437;AF019225;AF305224;AF305428;AF323540;AF323548;AK296099;AK298053;AK300454;AK303919;AK309143;AK313752;AMYH02038315;BC017331;BC112943;BC113867;BC114475;BC127186;BC141823;BC142720;BC143038;BC143039;BG419709;CH471095;DA375861;DC340792;DC367266;NG_023228;NM_001136540;NM_001136541;NM_003661;NM_145343;XM_005261795;XM_005261796;Z82215 AAB81218;AAG53690;AAI12944;AAI13868;AAI14476;AAI27187;AAI41824;AAI42721;AAI43039;AAI43040;AAK11591;AAK20210;AAL09358;BAG36492;BAG58852;BAG60347;BAG62174;BAG64847;EAW60090;EAW60091;EAW60092;EAW60093;EAW60094;NP_001130012;NP_001130013;NP_003652;NP_663318;O14791;XP_005261852;XP_005261853 Hs.114309 1677500;1729195;1733232;1733244;1795368;1846818;2130419;5014051;5016700;5021872;5022200;5022578;5037552;5109281 APOL2_299.2;D1S1423;D1S1425;D22S541;D22S549;D22S550;D22S592;D8S2278;D8S2279;L18426;RH79802;RH80142;UniSTS:146582;sY3084 APO-L;APOL;APOL-I;FSGS4 OTTHUMP00000028705;OTTHUMP00000197952;OTTHUMP00000197984;OTTHUMP00000197985;OTTHUMP00000197986;OTTHUMP00000197987;OTTHUMP00000198062;apolipoprotein L-I;apolipoprotein L1 2314778 GLUCO97_H APPROVED protein-coding ENSG00000100342 HGNC:618 04774 603743;612551 REVIEWED 1343358 APOL4 apolipoprotein L, 4 The protein encoded by this gene is a member of the apolipoprotein L family and may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Two transcript variants encoding two different isoforms have been found for this gene. Only one of the isoforms appears to be a secreted protein. [provided by RefSeq, Jul 2008] 22 22 22 q11.2-q13.2 20387749 20403452 - 36585176 36600879 - 36189128 36204833 - 1580863;6480464;7240710 11290834;11374903;11944986;12477932;15461802;15949655;16344560;18632255;8125298 80832 B1AHJ0;B1AHJ2;E9PS31;F5H1P9;J3KNR9;Q9BPW4;Q9BRG6 ABBA01055436;AF305226;AK225696;AK290466;AK290777;AK311506;AK312716;AK313637;AMYH02038314;AW627682;AY014913;AY014914;AY014915;BC004150;BC006276;BC010131;BC017313;CH471095;CR456380;DA865632;KF459718;NG_023437;NM_030643;NM_145660;Z95114 AAG50350;AAG50351;AAG50352;AAG50353;AAH06276;AAI56832;AAK20212;ACE86467;ACE87148;BAF83155;BAF83466;BAG35591;CAG30266;CAK54369;CAK54668;EAW60084;EAW60085;EAW60086;NP_085146;NP_663693;Q9BPW4 Hs.115099 1689763;1795372;5108114;5124355 APOL4_713;DXS429;RH80419;RH91879 APOL-IV;APOLIV OTTHUMP00000198064;OTTHUMP00000198065;OTTHUMP00000198067;OTTHUMP00000198068;OTTHUMP00000198069;OTTHUMP00000232518;apolipoprotein L-IV;apolipoprotein L4 2314778 GLUCO97_H APPROVED protein-coding ENSG00000100336 HGNC:14867 16237 181500;607254 REVIEWED 1604585 APOLD1 apolipoprotein L domain containing 1 APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008] 12 12 12 p13.1 18027373 18093110 + 12878851 12944400 + 12725917 12791466 + 6480464 11076863;11230166;12477932;14702039;15102925;15489334;15489336;16344560;16381901;19738201;19913121;20628086;24250222;8125298 81575 A0AVN6;F5GX34;Q96LR9 ABBA01067848;ABBA01067849;ABBA01067850;ABBA01067851;AC007215;AC008115;AK024963;AK225176;AK314392;AL136783;AMYH02026064;AMYH02026065;AX665378;BC042478;BC126433;BC126435;CH471094;DA405367;DC413327;NM_001130415;NM_030817 AAH42478;AAI26434;AAI26436;BAG37017;CAB66717;CAD82870;CAL38261;EAW96278;EAW96279;NP_001123887;NP_110444;Q96LR9 Hs.23388;Hs.719938 1697084;1733594;2117357;2124779;5037552 BCD2161;D12S927;D8S2279;RH102024;SHGC-32548 DKFZp434F0318;FLJ25138;FLJ95166 OTTHUMP00000204109;OTTHUMP00000204110;VERGE;apolipoprotein L domain-containing protein 1;vascular early response gene protein APPROVED protein-coding ENSG00000178878 HGNC:25268 13153 612456 VALIDATED 1353798 APOL6 apolipoprotein L, 6 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008] 22 22 22 q12.3 19847673 19867704 + 36044424 36064456 + 35648377 35668409 + 1580863;6480464 10591208;11374903;12477932;12975309;14702039;15461802;15489334;15671246;18571626;19299565;21646352;22505724;22632162;23000965;23911300;8889548;9828130 80830 B3KTP4;Q9BWW8 ABBA01055424;AJ227900;AK074645;AK095881;AK097266;AL049747;AL834420;AMYH02038307;AY014879;AY358210;BC038950;BC047864;BM023524;BM982940;BU585026;CH471095;CR456381;FJ177991;NM_030641;Z79996 AAH38950;AAH47864;AAK07724;AAQ88577;ACN51253;BAC11109;BAG53156;CAG30267;CAH56356;CAK54370;CAK54669;EAW60069;NP_085144;Q9BWW8 Hs.257352 1674363;1735048;1795374;5022450 APOL6_715;D10S275;D22S977E;WI-19821 APOL-VI;DKFZp667M075;FLJ38562;FLJ90164;MGC57495 APOLVI;OTTHUMP00000197934;apolipoprotein L-VI;apolipoprotein L6 APPROVED protein-coding ENSG00000221963 HGNC:14870 06266 607256 REVIEWED 1315120 APOL3 apolipoprotein L, 3 This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 6. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 22 22 22 q13.1 20338943 20364799 - 36536371 36562225 - 36140323 36166177 - 1580863;6480464 10233894;10591208;11290834;11374903;11930015;11944986;12477932;12761501;15461802;16344560;16806233;19946888;20237496;20379614;20602615;20631155;23648065 80833 F2Z2M3;H0YCT0;H0YD32;H0YDH5;H0YDW3;H0YEJ6;H0YEQ0;H7BYQ5;O95236 ABBA01055436;AF070675;AF305227;AF324238;AK025349;AMYH02038313;AY014902;AY014903;AY014904;AY014905;AY014906;AY014907;BC038352;BC042918;BC050596;BF797347;CH471095;CR456379;DA878288;NM_145640;NM_145641;NM_145642;NR_027833;NR_027834;NR_027835;XM_006724322;XM_006724323;XM_006724324;XM_006724325;Z95114 AAC83233;AAG50344;AAG50345;AAG50346;AAG50347;AAG50348;AAG50349;AAH42918;AAH50596;AAK20213;AAK26527;AAK26528;AAK26529;CAG30265;CAK54368;CAK54667;EAW60080;EAW60081;EAW60082;EAW60083;NP_663615;NP_663616;NP_663617;O95236;XP_006724385;XP_006724386;XP_006724387;XP_006724388 Hs.474737 1653343;1692226;1795370 A008R30;AL033769;APOL3_301 APOLIII;CG121;CG12_1;apoL-III OTTHUMP00000198071;OTTHUMP00000198072;OTTHUMP00000198073;TNF-inducible protein CG12-1;apolipoprotein L-III;apolipoprotein L3 APPROVED protein-coding ENSG00000128284 HGNC:14868 06264 607253 REVIEWED 1347333 APOL5 apolipoprotein L, 5 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008] 22 22 q12.3 36113919 36125530 + 35713631 35729530 + 1580863;6480464 10591208;11374903;17474147;20602615;20691427;24348519 80831 Q9BWW9 ABBA01055424;AC239364;AL049748;AMYH02038309;AY014878;NM_030642;XM_006724321;XM_006725403 AAI56796;AAK07723;NP_085145;Q9BWW9;XP_006724384;XP_006725466 Hs.326561 APOL-V APOLV;OTTHUMP00000197877;apolipoprotein L-V;apolipoprotein L5 APPROVED protein-coding ENSG00000128313 HGNC:14869 06265 607255 REVIEWED 1603962 APOO apolipoprotein O This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and 16.[provided by RefSeq, Sep 2009] X X X p22.11 27970217 28043546 - 23851465 23926057 - 23833348 23907940 - 6480464;8554872 12477932;12975309;15489334;16956892;18029348;19204726;19913121;20628086;20877300;21319273;22693255;24341743;24743151 79135 G3V1B6;H7C1U8;Q9BUR5 AA410995;ABBA01072242;ABBA01072243;ABBA01072244;ABBA01072245;ABBA01072246;ABBA01072247;ABBA01072248;ABBA01072249;ABBA01072250;ABBA01072251;ABBA01072252;ABBA01072253;ABBA01072254;ABBA01072255;ABBA01072256;ABBA01072257;ABBA01072258;AC079376;AC131011;AF061264;AK311865;AMYH02039035;AY359114;BC002333;BC010102;BC016814;BX099786;CH471074;DB466960;EL951748;NG_013219;NM_024122;NR_026545;XM_006724516;XM_006724517 AAG43139;AAH02333;AAH10102;AAH16814;AAQ89472;BAG34806;EAW99001;EAW99002;EAW99003;EAW99004;NP_077027;Q9BUR5;XP_006724579;XP_006724580 Hs.495851 FAM121B;MGC4825;MYO25;My025 OTTHUMP00000023072;OTTHUMP00000023073;brain my025;family with sequence similarity 121B APPROVED protein-coding ENSG00000184831 HGNC:28727 06657 300753 REVIEWED 736378 APOE apolipoprotein E Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 42213361 42216972 + 45409039 45412650 + 44905782 44909393 + 1300048;1578483;1578449;1578479;1331525;1601191;1601227;1601238;1601231;1601235;1601230;1599198;1580863;1578416;1578481;1578485;1601229;1601237;1601240;1578426;1626412;2317552;2317556;2317548;2317550;6480464;6903197;6903199;6903285;6903288;6903840;6903910;6904145;6903287;6903854;6903926;6903200;6903201;6903202;6903906;6902935;6903856;6904141;6903838;6903233;5509868;6903247;734968;6903286;6907045;6904207;6904217;6904214;6904216;6906874;6906875;7240710;7771594;7771597;7495765;7495761;7771587;7495788;7771554;7771556;7771557;7771549;7495760;7495790;7495762;7495763;7495764;7495789;7771591;7495786;7771550;7771553;7495800;7771552;7771592;7771596;7771598;7775015;7771551;7771593;7771595;7495797;7495787;7771555;8554872;8699517 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348 E7ERP7;E9PEV4;H0Y7L5;P02649 AB035149;ABBA01040892;AC011481;AF050154;AF261279;AK314898;AMYH02036183;AY077451;BC003557;BU848796;CH471126;FJ525876;K00396;M10065;M12529;NG_007084;NM_000041;X00199;X92000;XM_005258867;Z70760 AAB59397;AAB59518;AAB59546;AAD02505;AAG27089;AAH03557;AAL82810;ABM83474;ABM86685;ACN81314;BAA96080;BAG37412;CAA25017;CAA63051;CAA94806;EAW57306;NP_000032;P02649;XP_005258924 Hs.654439 1341236;1658651;1740879;1740895;1741019;1741151;1741655;1741669;1742423;1744161;1744223;1791614;1794296;1794298;1794300;1794302;1795160;2131438;2176691 D19S571;GDB:169570;GDB:171177;GDB:177380;GDB:178385;GDB:181631;GDB:181693;GDB:196979;GDB:433407;GDB:438097;PMC117303P1;PMC310963P1;PMC310963P2;PMC310963P3;PMC310963P4;PMC99927P2;RH11470;STS-K00396;STS-N29699 AD2;LDLCQ5;LPG;MGC1571;apo-E OTTHUMP00000159143;OTTHUMP00000197075;OTTHUMP00000197076;OTTHUMP00000197077;apolipoprotein E3 1643251 BW139_H APPROVED protein-coding ENSG00000130203 HGNC:613 00135 104310;107741;269600;603075;611771 REVIEWED 1351827 APOOL apolipoprotein O-like This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [provided by RefSeq, Sep 2011] X X X q21.1 84498355 84587725 + 84258897 84348323 + 85003891 85093317 + 6480464 10737800;12477932;12975309;14702039;15489334;15772651;18029348;22118674;23704930;24457600 139322 Q6UXV4 ABBA01051632;ABBA01051633;ABBA01051634;ABBA01051635;ABBA01051636;ABBA01051637;ABBA01051638;ABBA01051639;ABBA01051640;ABBA01051641;ABBA01051642;AK096909;AK130506;AMYH02039887;AMYH02039888;AMYH02039889;AY358193;BC107095;BC107096;BE328646;BI038188;CH471104;CR749250;NG_021245;NM_198450;XM_005262080;Z83820;Z99571 AAI07097;AAQ88560;CAH18106;EAW98568;NP_940852;Q6UXV4;XP_005262137 Hs.512181;Hs.729014 1702296;1847583;1858566;2138884;2142960;2146703;2184770;5015961 A006S21;AL022453;D15S1477;DXS326;DXS6994E;DXS8341;SHGC-33825;SHGC-63599 CXorf33;FAM121A;MGC129748;UNQ8193 AAIR8193;OTTHUMP00000023621;chromosome x open reading frame 33;family with sequence similarity 121A APPROVED protein-coding ENSG00000155008 HGNC:24009 16775 REVIEWED 1351807 APOM apolipoprotein M The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [provided by RefSeq, Jan 2012] 6 6 6 p21.33 33221892 33224208 + 31620187 31625987 + 31652410 31658210 + 1580863;2314236;2314238;2314241;2314248;2314249;6480464 16516154;17674965;19539616 10531326;11418126;11944906;12477932;12666989;14574404;14633861;14656967;15146197;15147633;15172102;15489334;15542348;15793583;15904876;16169070;16335952;16572495;16682745;17022639;17112825;17154273;17207965;17525477;17557255;17973931;17977826;18006500;18054359;18279674;18338076;18381283;18460466;18490703;18652652;18835879;18978787;19007767;19100249;19200746;19654303;19733574;19767535;19796793;19836008;19913121;19932694;19932739;20080084;20602615;20628086;20660599;20828695;20846402;20872094;21122852;21390319;21454713;21606363;21844665;21875437;21944699;22204862;22516753;22826357;22877565;23086303;23190940;23652568;23660425;23664237;24040766;24318881;24341666;24508264;8812450 55937 O95445;Q5SRP5 AA476324;AA846749;ABBA01038084;AF118393;AF129756;AF161454;AJ245434;AL662801;AL670886;AL805934;AMYH02013452;BA000025;BC020683;BF344944;BG564719;BX511262;CB054016;CH471081;CN428415;CR354443;CR753842;CR759761;CS185541;NM_001256169;NM_019101;NR_045828;XM_006715150;XM_006725493;XM_006725707;XM_006725824;XM_006725916;XM_006726009;XM_006726104 AAD11443;AAD18084;AAF29014;AAH20683;ADQ32214;BAB63389;CAB51604;CAJ42722;EAX03461;EAX03462;EAX03463;EAX03464;NP_001243098;NP_061974;O95445;XP_006715213;XP_006725556;XP_006725770;XP_006725887;XP_006725979;XP_006726072;XP_006726167 Hs.534468 1686830;1717479;2175166 A007I39;RH122245;RH92454 G3a;HSPC336;MGC22400;NG20;apo-M NG20-like protein;OTTHUMP00000029364;OTTHUMP00000029365;OTTHUMP00000029366;alternative name: G3a, NG20 APPROVED protein-coding ENSG00000204444 HGNC:13916 06068 606907 REVIEWED 7246281 APOOP2 apolipoprotein O pseudogene 2 3 3 3 p11.2 88397161 88397739 + 87643956 87644534 + 87594806 87595384 + 100129005 ABBA01004630;AC116546;AMYH02007214;NG_012899 pseudo HGNC:48740 INFERRED 7246228 APOOP1 apolipoprotein O pseudogene 1 5 5 5 q33.3 152376818 152377732 + 156351101 156352014 + 156924090 156925003 + 100286948 ABBA01044278;AC008491;AMYH02012541;NG_029196 pseudo HGNC:48739 INFERRED 7246214 APOOP3 apolipoprotein O pseudogene 3 12 12 12 q14.3 65193936 65194835 + 65528441 65529340 + 65134661 65135560 + 100131528 ABBA01026592;AC026124;AMYH02026671;NG_012898 pseudo HGNC:48741 INFERRED 7246270 APOOP5 apolipoprotein O pseudogene 5 16 16 16 q21 44288742 44289801 - 59788036 59789095 - 59754132 59755191 - 644649 ABBA01025325;AC026457;AI016649;AMYH02032146;BX108667;NR_028471 Hs.250392;Hs.729577 pseudo HGNC:48743 PROVISIONAL 1312327 APOPT1 apoptogenic 1, mitochondrial INVOLVED IN intrinsic apoptotic signaling pathway (inferred); positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (inferred); positive regulation of release of cytochrome c from mitochondria (inferred); ASSOCIATED WITH Cytochrome-c Oxidase Deficiency (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; diazinon 14 14 14 q32.33 84083545 84111477 + 104029299 104057236 + 103562962 103590899 + 6480464 12477932;15342556;15489334;16782708;18977203;20877624;21906983;23824909;8125298 84334 G3V4L6;H0YJ38;H0YJK3;H0YJM4;H7BZ67;H7C2Z1;Q96IL0 ABBA01048419;ABBA01048420;ABBA01048421;ABBA01048422;AK223092;AK223103;AL139300;AMYH02029927;AMYH02029928;BC007412;BP317962;CA443899;CH471061;NM_032374 AAH07412;BAD96812;BAD96823;EAW81829;EAW81830;EAW81831;NP_115750;Q96IL0 Hs.598441 1672526;1673896;1683769;2119433;2120543;2158846;2161128;2180864;5016478;5020274;5020946;5020948;5022463;5022578;5022651 D11S2921;D1S1423;D3S1673;G35465;G35510;G35514;G36164;G36166;GDB:434012;L17971;L18441;RH41848;RH48201;RH69467;RH94158 APOP;APOP1;C14orf153;MGC2562 OTTHUMP00000204662;UPF0671 protein C14orf153;apoptogenic 1;apoptogenic protein 1;apoptogenic protein 1, mitochondrial;chromosome 14 open reading frame 153;hypothetical protein LOC84334 APPROVED protein-coding HGNC:20492 12637 220110;616003 VALIDATED 7246620 APOOP4 apolipoprotein O pseudogene 4 4 4 4 q13.2 66629257 66630021 - 69169920 69170684 - 68304202 68304966 - 9847074 100128725 ABBA01022909;AC074378;AC098799;AC247056;AMYH02009388;NG_012897 pseudo HGNC:48742 INFERRED 6767468 APTR Alu-mediated CDKN1A/p21 transcriptional regulator (non-protein coding) 7 7 7 71987595 72027556 - 77313168 77326662 - 77683851 77697345 - 24748121 100505854 ABBA01058014;ABBA01058015;ABBA01058016;AC004955;AC090421;AF290475;AMYH02016104;HG500346;NR_038361 Hs.72451 1697122;1735676;2115756 D7S2136E;RH102045;SHGC-56104 AC090421.1;RSBN1L-AS1 APPROVED ncrna HGNC:44173 616048 VALIDATED 1607055 APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008] 3 3 3 p21.1-p14.3 57227340 57273073 + 57261765 57307499 + 57227737 57273471 + 6480464;6907045;8554872 10490823;10718198;12011067;12168954;12477932;12621049;15016378;15070827;15196694;15302935;15345747;15489334;16189514;16273093;16622416;16751776;17030088;17287464;17490420;17502098;17581628;17848569;18034774;18307981;18581887;18632660;19056867;19060904;19322201;19433865;19520843;19686092;20095645;20412119;20484574;20600589;20639865;20814572;20875820;20978232;21139048;21285318;21291857;21320486;21562756;21645192;21835890;21890473;21906983;21926268;21963094;21988832;22037462;22053931;22340213;22379109;22505724;22685300;22685329;22863883;23055524;23246927;23291133;23383273;23752268;23762377;23891720;23909487;23977033;23986476;24816145 26060 C9JAB0;C9K0C4;Q9UKG1 AB037849;ABBA01024422;ABBA01024423;ABBA01024424;AC093928;AF169797;AF424738;AK299008;AK310716;AMYH02006863;BC010911;BC028599;CH471055;NM_012096 AAF04012;AAH28599;AAL17835;ADZ15518;BAA92666;BAG61090;EAW65335;EAW65336;NP_036228;Q9UKG1 Hs.476415 APPL;DIP13alpha AKT2 interactor;DCC-interacting protein 13-alpha;OTTHUMP00000165214;adapter protein containing PH domain, PTB domain and leucine zipper motif 1;adaptor protein containing pH domain, PTB domain and leucine zipper motif 1;dip13-alpha;signaling adaptor protein DIP13alpha APPROVED protein-coding ENSG00000157500 HGNC:24035 05053 604299 REVIEWED 1605653 APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011] 12 12 12 q24.1 105231366 105294273 - 105567075 105630008 - 105173297 105236230 - 6480464 11431708;12477932;14702039;15016378;15489334;16189514;16622416;17030088;18034774;19056867;19433865;20814572;21044950;21645192;22340213;22462604;22863883;22989406;23055524;23455924;23891720;23977033 55198 F8VR68;F8VS86;F8VWV2;F8VXB0;F8W124;H0YH86;Q8NEU8 ABBA01053186;AC016257;AC078874;AK001521;AK290562;AK293783;AK296610;AK297100;AK310377;AMYH02027109;AMYH02027110;AY113704;BC028008;BC033731;CH471054;DN993818;KF455707;NG_030419;NM_001251904;NM_001251905;NM_018171;XM_005269001;XM_006719472 AAH33731;AAM55530;ABM83033;ABM86227;BAF83251;BAG50931;BAH11594;BAH12397;BAH12496;EAW97762;EAW97763;EAW97764;NP_001238833;NP_001238834;NP_060641;Q8NEU8;XP_005269058;XP_006719535 Hs.506603 1340494;1644974;1690302;2124799 D12S317;RH44961;SHGC-3540;STS-R77239 DIP13B;FLJ10659 DCC-interacting protein 13-beta;DIP13 beta;OTTHUMP00000242288;OTTHUMP00000242289;OTTHUMP00000242290;adapter protein containing PH domain, PTB domain and leucine zipper motif 2;adaptor protein containing PH domain, PTB domain and leucine zipper motif 2;dip13-beta APPROVED protein-coding ENSG00000136044 HGNC:18242 06945 606231 REVIEWED 1315134 APPBP2 amyloid beta precursor protein (cytoplasmic tail) binding protein 2 The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 17 17 17 q23.2 57621010 57704071 - 58520520 58603580 - 60443149 60526240 - 1580863;6480464 11034067;11331760;11742091;12477932;12915535;14729952;15342556;15489334;16189514;16196087;18187417;19060904;19176879;19570594;21118134;21139048;21145461;21890473;21906983;23000965;9039502;9843960 10513 K7EIZ9;K7EN61;K7ENN3;Q92624 ABBA01035408;AC011921;AC037475;AF017782;AK292227;AK307666;AL157428;AMYH02033723;BC018121;BP222365;CH471179;D86981;NM_001282476;NM_006380;XM_006721639 AAC83973;AAH18121;BAA13217;BAF84916;EAW51406;EAW51407;NP_001269405;NP_006371;Q92624;XP_006721702 Hs.84084 1705024;1774237;1794294;2126791;2155789;2218236;5015867;5022450;5022578;5022588;5109281 APPBP2__4343;D10S275;D1S1423;D1S1425;D5S1597E;GDB:312714;PMC310943P1;RH12422;RH25434;RH45824;SHGC-78028 APP-BP2;HS.84084;KIAA0228;PAT1 amyloid beta precursor protein-binding protein 2;amyloid protein-binding protein 2;protein interacting with APP tail 1 APPROVED protein-coding ENSG00000062725 HGNC:622 05616 605324 REVIEWED 736021 APP amyloid beta (A4) precursor protein This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014] 21 21 21 q21.3 12436275 12726567 - 27252861 27543446 - 25880550 26171128 - 1300048;1599199;6480464;6484113;6907045;7240710;8554872;8699517 16369530 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351 B4DGD0;B4DJT9;E9PG40;H7C0V9;H7C2L2;P05067 A02759;AB066441;ABBA01057213;ABBA01057214;AF282245;AK294534;AK295373;AK295621;AK296229;AK297229;AK297412;AK298861;AK311717;AK312326;AMYH02037653;AMYH02037654;AMYH02037655;AMYH02037656;AMYH02037657;AMYH02037658;AMYH02037659;AP001439;AP001440;AP001441;AP001442;AP001443;AY011354;AY919674;BC004369;BC065523;BC065529;BE907745;BI559391;BM172428;BM876312;CB854706;CH471079;CS275872;CS365133;CS448142;CS448144;CS448146;CS448164;CS448166;CS448168;D87675;DC336035;KC877827;KC877829;KC877830;KC877833;KC877835;KC877836;KC877837;KC877838;KC877840;KC877846;KC877849;KF454891;KF457122;KF457123;KF457130;KF457131;KF457132;KF457133;KF457134;KF457140;KF510514;KF510515;KF510516;KF510517;KF510518;KF510519;KF510520;KF510521;KF510523;KF510525;KF510526;KF511359;KF511362;KF511363;KF511364;M15532;M15533;M16765;M18734;M24546;M28373;M29270;M33112;M34862;M34863;M34864;M34865;M34866;M34867;M34868;M34869;M34870;M34871;M34872;M34873;M34874;M34875;M34876;M34877;M34878;M34879;M35675;M37896;NG_007376;NM_000484;NM_001136016;NM_001136129;NM_001136130;NM_001136131;NM_001204301;NM_001204302;NM_001204303;NM_201413;NM_201414;S41243;S45136;S60317;S60721;S61380;S61383;X06981;X06982;X06989;X13466;Y00264 AAA35540;AAA51564;AAA51722;AAA51726;AAA51727;AAA51768;AAA58727;AAA60163;AAB23646;AAB26263;AAB26264;AAB26265;AAB59501;AAB59502;AAC13654;AAC60601;AAG47389;AAH04369;AAH65529;AAQ14327;AAW82435;ACE87808;ACT64482;BAA22264;BAB71958;BAG35248;BAG57741;BAG58500;BAG58951;BAG59712;BAG59847;BAG60983;BAH12049;CAA00268;CAA30041;CAA30042;CAA30050;CAA31830;CAA68374;CAJ84410;CAL33835;CAL69791;CAL69792;CAL69795;CAL69796;CAL69831;CAL69838;EAX09957;EAX09958;EAX09959;EAX09960;EAX09961;EAX09962;EAX09963;EAX09964;EAX09965;EAX09966;NP_000475;NP_001129488;NP_001129601;NP_001129602;NP_001129603;NP_001191230;NP_001191231;NP_001191232;NP_958816;NP_958817;P05067 Hs.434980 1336950;1337535;1649514;1652599;1661001;1661622;1664158;1668576;1696304;1696470;1706634;1709202;1718237;1722475;1735040;1741331;1741769;1741771;1743209;1768358;1770220;1784470;1784472;1791324;1795376;2113700;2116162;2118152;2122353;2129618;2153841;2155185;2157100;2158874;2163359;2166282;2175501;2181117;5117600;5120041;7183785 APP;APP_48;D21S1253;D21S1443;D21S1732E;D21S1857;D21S1968;D2S2243;G09932;G34719;G34787;G60161;GDB:180723;GDB:185158;GDB:185159;GDB:192308;GDB:303952;GDB:585471;PMC102624P1;RH122888;RH67934;RH77727;SHGC-170150;SHGC-170152;SHGC-51936;SHGC-51938;SHGC-51939;SHGC-51941;SHGC-51942;SHGC-51944;SHGC-51945;SHGC-52109;SHGC-52131;SHGC-58300;SHGC-77728;SHGC-79795;SHGC-82798;SHGC-85780;WI-18826;WIAF-1682 AAA;ABPP;AD1;APPI;CTFgamma;CVAP;PN-II;PN2;preA4 ABETA;OTTHUMP00000096095;OTTHUMP00000096096;OTTHUMP00000096097;OTTHUMP00000096098;OTTHUMP00000225525;alzheimer disease amyloid protein;amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease);amyloid beta A4 protein;beta-amyloid peptide;beta-amyloid peptide(1-40);beta-amyloid peptide(1-42);cerebral vascular amyloid peptide;peptidase nexin-II;protease nexin-II APPROVED protein-coding ENSG00000142192 HGNC:620 00100 104300;104760;605714 REVIEWED 1606553 APTX aprataxin This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010] 9 9 9 p13.3 32903909 32932925 - 32972604 33001639 - 32972606 33001641 - 6480464;7240710;8662352;8554872;8699517 20192759 11170899;11586299;11586300;12119013;12196655;12477932;12629250;14506070;14534929;14702039;14755728;15044383;15164053;15164193;15276230;15365154;15367657;15380105;15489334;15555565;15596775;15699391;15719174;15790557;15852392;16344560;16439205;16547001;16713569;16777843;16964241;17049295;17240329;17276982;17485165;17519253;17572444;18202221;18836178;19103743;19561170;19643912;19759913;19861517;19953284;19960345;20301317;20301629;20371676;20399152;21412945;21465257;21486904;21502511;21984210;24362567;24654937;24816145;3239952;7782601;7891378 54840 C9J8U3;C9JZ40;E7EUY4;E7EVB7;F8W6G5;F8WBD6;F8WBM3;Q6JV79;Q7Z2E3 AA494365;AB603741;ABBA01065073;ABBA01065074;ABBA01065075;AJ565850;AJ565851;AJ565852;AJ565853;AJ565854;AJ565855;AJ575566;AK000164;AK055672;AK131046;AL162590;AL353717;AMYH02019413;AX716699;AY040777;AY208829;AY208830;AY208831;AY208832;AY208833;AY208834;AY208835;AY208836;AY208837;AY208838;AY208839;AY208840;AY208841;AY208842;AY302067;AY302068;AY302069;AY302070;AY302071;AY302072;AY302073;AY302074;BC001628;BC032650;BC068107;BC104881;BQ957536;BX538161;CA429601;CH471071;CS185575;DA664623;DB042208;NG_012821;NM_001195248;NM_001195249;NM_001195250;NM_001195251;NM_001195252;NM_001195254;NM_175069;NM_175073;NR_036576;NR_036577;NR_036578;NR_036579;XM_006716791;XM_006716792;XR_428423 AAH01628;AAH32650;AAI04882;AAK91768;AAP86319;AAP86320;AAP86321;AAP86322;AAP86323;AAP86324;AAP86325;AAP86326;AAP86327;AAP86328;AAP86329;AAP86330;AAP86331;AAP86332;AAQ74130;AAQ74131;AAQ74132;AAQ74133;AAQ74134;AAQ74135;AAQ74136;AAQ74137;ADZ15765;BAA90985;BAG51552;BAK31015;CAD88901;CAD92454;CAD92455;CAD92456;CAD92457;CAD92458;CAD92459;CAD98041;CAE01427;CAJ42756;EAW58528;EAW58529;EAW58530;EAW58531;EAW58532;EAW58533;EAW58534;EAW58535;NP_001182177;NP_001182178;NP_001182179;NP_001182180;NP_001182181;NP_001182183;NP_778239;NP_778243;Q7Z2E3;XP_006716854;XP_006716855 Hs.20158 1765209;1846773;2121424;2163437;2174527;2174529;5020753;5093580 A005Z44;A009S13;G20636;G32803;RH16252;RH46890;SHGC-148705;SHGC-34030 AOA;AOA1;AXA1;EAOH;FHA-HIT;FLJ20157;MGC1072 EOAHA;OTTHUMP00000021189;OTTHUMP00000021190;OTTHUMP00000215291;OTTHUMP00000215292;OTTHUMP00000215296;OTTHUMP00000215302;OTTHUMP00000215305;OTTHUMP00000215306;OTTHUMP00000215307;OTTHUMP00000215310;forkhead-associated domain histidine triad-like protein APPROVED protein-coding ENSG00000137074 HGNC:15984 05892 208920;606350 REVIEWED 70369 AQP1 aquaporin 1 (Colton blood group) Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 7 7 7 p14 30940621 30954337 + 30951415 30965131 + 30911800 30925516 + 734971;2307072;2312795;2307071;2316076;2316077;2316078;5148011;5148031;5148033;5148029;5148013;6480464;5490120;6907045;8554872;8696006 18248364;18988797;19096774;19596320;19619613;19748503;20156423;20383338;21092735;21135737;21487926;21560328;24252214;9468475 10559675;10839360;10872456;10873606;11034202;11097616;11171962;11408278;11532455;11780053;11884383;11909995;11914159;11922632;12002613;12027013;12051745;12137754;12172703;12237771;12399631;12477932;12498798;12522663;12690205;12745312;12766090;12781664;12801959;12853948;1373524;14514735;14561230;14592814;14675051;14701836;14753493;14753494;15024704;15135660;15326289;15489334;15502805;15563082;15667881;15727941;15783300;15809704;15847654;16133142;16189514;16300893;16344560;16481371;16515633;16534779;16565507;16574458;16682607;16698771;16711029;16814974;16871401;17012249;17077939;17219999;1722319;17273788;17408468;17409744;17511167;17545093;17549682;17632520;17636236;17645239;17854859;17890385;17894331;17898873;18052958;18067501;18080132;18202181;18247144;18275976;18280225;18282122;18313673;18349152;18392839;18509662;18510579;18538351;18544259;18563339;18575775;18617525;18665841;18841368;19060904;19080511;19253825;19268465;19273840;19306058;19424603;19447967;19472194;19522191;19545896;19584911;19619954;19670620;19726340;19772916;19787701;19913121;20063900;2007592;20101282;20137115;20149606;20360993;20409716;20424473;20431033;20461409;20578142;20628061;20628086;20739606;20795314;20806077;20828513;20965731;20969805;21063116;21107133;21237499;21244858;21252246;21271497;21360438;21373963;21395179;21538271;21551254;21612401;21760919;21784068;21793635;21839760;21896312;22006723;22093331;22269467;22310126;22334691;22348807;22372348;22396660;22472942;22901156;22901921;22964306;23029502;23219802;23220481;23268390;23276695;23313295;23317544;23332061;23361277;23393355;23450058;23549977;23928039;24014128;24086369;24169407;24493792;3049610;3166547;7491270;7507481;7514605;7517253;7517546;7518771;7521540;7521882;7532004;7540589;7544358;7677994;7693713;8340403;8576117;8584435;8703970;9013443;9096382;9177353;9321919 358 B4DPF5;B4E220;B4E3E3;P29972 AACC02000087;AB451275;AB451402;ABBA01056814;AC004691;AC005155;AF480415;AK298091;AK298313;AK300995;AK301351;AK304684;AK309608;AK309688;AK309691;AK312656;AMYH02015460;AU122128;AY312580;AY312581;AY953319;BC022486;BC141905;BI837828;CH471073;DA197236;DA712111;M77829;NG_007475;NM_001185060;NM_001185061;NM_001185062;NM_198098;S73482;U41517;U41518 AAA58425;AAB31193;AAC16481;AAC23788;AAC50648;AAC50649;AAH22486;AAL87136;AAR16185;AAR16186;AAX24129;ABM83292;ABM86501;BAG35539;BAG60376;BAG60567;BAG62614;BAG62897;BAG65455;BAG70089;BAG70216;EAL24446;EAW93971;EAW93972;NP_001171989;NP_001171990;NP_001171991;NP_932766;P29972 Hs.76152 1646166;1660423;1666089;1745047;1789542;1789544;1789546;1856857;2125487;2142236;2143454;2152787 A007C48;AQP1;D7S2041E;D7S2065E;D7S2755;G68146;G68147;G68149;GDB:593256;STS-M77829;T03581;WI-9113 AQP-1;AQP-CHIP;CHIP28;CO;MGC26324 Colton blood group;OTTHUMP00000123398;OTTHUMP00000202461;OTTHUMP00000202462;aquaporin 1;aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group);aquaporin 1aquaporin 1 (Colton blood group);aquaporin-1;aquaporin-CHIP;channel-like integral membrane protein, 28-kDa;urine water channel;water channel protein for red blood cells and kidney proximal tubule APPROVED protein-coding ENSG00000240583 HGNC:633 00140 107776;110450 REVIEWED 1352752 AQP12B aquaporin 12B ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH zinc atom; zinc(0); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q37.3 235289033 235295664 - 241615835 241622317 - 240676418 240682900 - 6480464 12477932 653437 A6NM10;F2Z3N0;Q8IUS6 ABBA01048879;ABBA01048880;AC011298;AMYH02006099;BC041460;BC139748;BC157895;BC171912;NM_001102467 A6NM10;AAH41460;AAI39749;AAI57896;AAI71912;NP_001095937 Hs.437167 INSSA3;MGC149473 AQP-12B;OTTHUMP00000201388;aquaporin-12B;insulin synthesis associated 3 protein-coding ENSG00000185176 HGNC:6096 VALIDATED 736750 AQP11 aquaporin 11 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN endosomal lumen acidification (inferred); protein homooligomerization (inferred); proximal tubule development (inferred); FOUND IN cell surface; INTERACTS WITH aflatoxin B1; arsenite(3-); copper atom 11 11 11 q14.1 74608361 74629072 + 77300680 77321401 + 77589635 77610356 + 1580863;6480464 12477932;15489334;16107722;16303743;16650285;17207965;21118806;21988832;23359558;23643386;24250222 282679 Q8NBQ7 AB028147;ABBA01017426;AK075346;AK311096;AMYH02025136;AP000609;AP002789;BC040443;BJ994586;CH471076;CS051419;CX867790;NM_173039;XM_005273917 AAH40443;ADQ32983;BAC11558;BAC45004;CAI72204;EAW75030;EAW75031;NP_766627;Q8NBQ7;XP_005273974 Hs.503345 1680206;1723375;1726683;2151136;2174097 G62578;RH123239;RH92330;SHGC-1207;SHGC-31328 AQP-11;AQPX1 OTTHUMP00000228846;aquaporin-11 protein-coding ENSG00000178301 HGNC:19940 16503 609914 VALIDATED 1317133 APRT adenine phosphoribosyltransferase Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q24 73944514 73946979 - 88875877 88878342 - 88809469 88811934 - 1599204;1580863;1599201;5135035;6480464;6907045;7240710;8699517;8554872 15571218;2451510;6327016 10369268;10479485;10481956;10937693;11243733;116697;12477932;12665801;1353080;14674717;15196008;15489334;16130169;17126311;17353931;1746557;18029348;18399692;18781797;19056867;19399589;19738201;1985452;20098747;2067530;20706999;21139048;2135300;21635362;21832049;21890473;21906983;21963094;21987572;22053931;2227951;22505724;22623428;22934314;22939629;23000965;24250222;24816145;2502918;3343350;3531209;3554238;3680503;3684585;457664;7660991;7685481;7915931;8455250;869896;8882882;8889579;9298830;9521589 353 H3BQB1;H3BQF1;H3BQZ9;H3BSW3;P07741 ABBA01013586;AC092384;AMYH02032647;AY306126;BC106894;BC106895;BC107151;BM423481;BM550173;BU507629;CH471184;CR749423;HH961760;M16446;NG_008013;NM_000485;NM_001030018;U09817;Y00486 AAA51769;AAB84304;AAI07152;AAP45051;CAA68543;CAH18261;CBX51353;EAW66760;EAW66761;NP_000476;NP_001025189;P07741 Hs.28914 1741351;1778214;2120281 GDB:180915;RH68125;RH70957 AMP;APRTD;DKFZp686D13177;MGC125856;MGC125857;MGC129961 AMP diphosphorylase;AMP pyrophosphorylase;transphosphoribosidase APPROVED protein-coding ENSG00000198931 HGNC:626 00029 102600;614723 REVIEWED 70370 AQP2 aquaporin 2 (collecting duct) This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008] 12 12 12 q12-q13 49140628 49148768 + 50344524 50352664 + 49950741 49958881 + 734596;1580863;1601243;2314280;2314281;2314283;2314303;2314306;2314325;2314292;2314293;2314326;2314343;2314296;2314310;2314282;2314347;2312654;2314344;2314345;2312795;2314279;2313211;2314285;1303982;2312656;6480464;6907045;7240710;8699517;8554872 11035038;11380083;12021537;12191971;12218327;15037626;15579502;15705184;16434568;16582573;16641094;16845277;16968783;17229678;18296634;18431594;18971210;19096774;19147915;19293543;19458121;19461158;19585583;19701945 10372737;10710543;11076974;11297561;11456273;11509828;11536078;11929850;12050236;12051765;12194985;12208541;12477932;12566732;12631357;12787389;12819016;14514735;14593099;14662748;14702039;15012730;15100362;15155571;15326289;15458431;15489334;15703994;15922355;15956775;16049696;16159898;16221200;16288724;16449354;16483614;16563128;16580609;16825342;16902321;16928804;16979638;17192724;17550212;17636261;17763164;17957381;17965877;18040725;18066585;18247144;18389276;18515885;18519086;18678705;19138132;19923410;20301356;20379614;20390303;20403973;20416077;20452482;20673868;20722976;20724536;21063116;21209006;21237499;21252246;21715543;21824900;22403735;22644838;22732097;22778181;22889921;23078817;23150186;23326416;23364801;23409988;23852332;24733887;7510718;7512890;7522228;7524315;7525161;7532304;8125298;8140421;8584435;8882880;9048343;9268644;9302264;9321919;9402087;9550615;9649557;9745427 359 F8VPL3;F8W0S2;P41181 ABBA01031544;AC025154;AC067739;AF147093;AI792401;AK055824;AK225940;AMYH02026451;BC042496;CH471111;CR542024;D31846;NG_008913;NM_000486;S73196;S73197;Z29491 AAB31998;AAB31999;AAD38692;AAH42496;BAA06632;CAA82627;CAG46821;EAW58109;NP_000477;P41181 Hs.130730 2141900 STS-D31846 AQP-2;AQP-CD;MGC34501;WCH-CD ADH water channel;OTTHUMP00000241925;OTTHUMP00000241926;OTTHUMP00000242769;aquaporin 2;aquaporin-2;aquaporin-CD;collecting duct water channel protein;water channel protein for renal collecting duct;water-channel aquaporin 2 APPROVED protein-coding ENSG00000167580 HGNC:634 00141 107777;125800 REVIEWED 1346803 AQP12A aquaporin 12A ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q37.3 235289033 235295670 - 241631262 241637900 + 240691845 240698483 + 1580863;6480464 15809071;23359558 375318 C9J6F6;Q8IXF9 AB040748;ABBA01048880;AC011298;AMYH02006099;CH471063;NM_198998 AAI72337;BAC45006;EAW71211;NP_945349;Q8IXF9 Hs.534650 AQP-12;AQP12;AQPX2 OTTHUMP00000164503;OTTHUMP00000201387;aquaporin 12;aquaporin X2;aquaporin-12A protein-coding ENSG00000184945 HGNC:19941 16504 609789 VALIDATED 70371 AQP5 aquaporin 5 Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008] 12 12 12 q13 49151383 49155562 + 50355279 50359465 + 49961496 49965682 + 727251;1580863;2312795;70240;5490152;6480464;6484113;7240710;8554872;8699517 11773623;19096774;19616516 10476940;11245621;11408278;12477932;12522663;12565800;12801959;15342556;15489334;16189514;16341674;16500622;16537379;17043812;17553491;17640479;18042467;18215141;18280225;18305162;18449356;18478076;18583321;18612408;18768791;18846354;18853286;19060904;19166033;19199708;19273840;19340551;19652646;19664333;20106632;20360993;20362698;20669661;20806077;21151978;21244858;21251364;21315850;21427539;21455588;21524183;21950762;21973049;21988832;22048942;22145049;22470085;22472942;22576684;22732097;23160677;23176748;23203809;23313152;23326416;23352976;23382834;23392848;23436048;23473857;23797770;23830519;23842530;23867895;24224160;24752576;8621489;9268644 362 P55064 ABBA01031544;ABBA01031545;ABBA01031546;AC025154;AMYH02026451;BC032946;BP272197;BQ083334;BX095029;CH471111;CR541989;CR542022;NG_033883;NM_001651;U46566;U46567;U46568;U46569;XM_005268838 AAC50474;AAH32946;ABM82149;ABM85332;CAG46786;CAG46819;EAW58110;NP_001642;P55064;XP_005268895 Hs.298023 AQP-5;PPKB OTTHUMP00000241927;aquaporin-5 APPROVED protein-coding HGNC:638 02706 600231;600442 REVIEWED 735519 AQP4 aquaporin 4 This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. The encoded protein is the predominant aquaporin found in brain. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 18 18 18 q11.2-q12.1 21242174 21255883 - 24432007 24445735 - 26852043 26865752 - 730277;1580863;2312795;5490116;5148010;5148027;5148028;5148037;5490117;5148011;5148023;5148026;5148029;5490122;5148016;5148022;5148035;5148036;5148014;5148025;2316076;5490126;5148024;5490118;5490153;5148012;5490120;5148006;5148030;5490154;2326035;5148033;5148020;5148013;5148032;5490129;5490152;5148008;5148015;5148031;5148034;6480464;5684013;6907045;8698660;734598;8547867;8695999;8695955;8695957;8696034;8695953;8662893;8698661;8696005;8698664;8696030;8696028;8698645;8696022;8698651;8695993;8696026;8696032;8696033;8696023;8696024;8695996;8696006;8696036 11406631;15695511;16087714;16219025;17454447;17468440;17702782;18420727;18836575;19070604;19089902;19096774;19616516;19660138;19748503;19806476;19864112;20047900;20111877;20156423;20216911;20383338;20451280;20461409;20483026;20517941;20541575;20680099;20680636;20720509;20728226;20815926;20851747;20886625;20924629;20938728;20979759;21056916;21063116;21083433;21092735;21107133;21135737;21157915;21187412;21255222;21280976;21487926;21488209;21560328;21718723;21724913;21771203;21904632;22271321;22361023;22449442;22943863;22987392;23024849;23116879;23707078;23890015;23995423;23999580;24252214;7528931 11245621;11408278;11717465;11742978;11890849;12107411;12137754;12477932;12715185;14627352;14753493;15200272;15489334;16103109;16133546;16194264;16778375;16814974;16831965;16871401;17207965;17335082;17549682;17645239;17890008;17899684;17984171;18019416;18071147;18095136;18280225;18309154;18392839;18435417;18437047;18462810;18474738;18510734;18511455;18516975;18641458;18854171;19000426;19028829;19112001;19140826;19153045;19209385;19266146;19366470;19383790;19445480;19465451;19487655;19752303;19761816;19764565;19772916;19938104;19965522;20007705;20013023;20028711;20106632;20109536;20131265;20138100;20141731;20227773;20232212;20339523;20351659;20463974;20467785;20577926;20628061;20685122;20934410;20953960;20965731;21107126;21212277;21241398;21252246;21262839;21300735;21303170;21321193;21333492;21424125;21454592;21491501;21524183;21548930;21621278;21689527;21784068;21813785;21896312;21900637;21908481;21909659;21914143;21952128;21965418;21968684;21981006;22069320;22083667;22248725;22291033;22307776;22334710;22360420;22372348;22378467;22393049;22394609;22507888;22540328;22554469;22608667;22628234;22679274;22714714;22718347;22732097;22773464;22777185;22802001;22808259;22817997;22829325;22886979;22906356;22925751;22987438;23008451;23054238;23232103;23270503;23378324;23456674;23658379;23664693;23673145;23677744;23746426;23915916;23928039;23950863;23973312;23997151;24014171;24182872;24260168;24289379;24356448;24361961;24388217;24415568;24727946;24733266;7559426;8125298;8601457;8617713;8855281;9676432;9824541 361 F1DSG4;H0Y3H5;J3KRM4;P55087 AB128929;AB209156;ABBA01022569;AC018371;AK026728;AK222684;AK295069;AL119338;AL138136;AMYH02034460;AV725241;BC022286;BC030745;BC045780;BI596912;BI667387;BI917845;BQ638704;CD105892;CH471088;CK001094;D63412;HQ901095;KF055862;N50070;NG_029560;NM_001650;NM_004028;R35726;U34845;U63613;U63622;U63623 AAB26957;AAB26958;AAC50284;AAG17964;AAH22286;ADQ32133;ADZ13511;AGX27825;BAA09715;BAD22823;BAD92393;BAD96404;BAG58116;EAX01228;EAX01229;NP_001641;NP_004019;P55087 Hs.315369 1648568;1649960;1666233;1669551;1674628;1678671;1712663;1734586;1795378;2143535;2148688;2164624;7186708 A002Q03;A006W40;AQP4_717;D18S1195;D18S1223;D18S941E;RH121996;RH18229;RH25921;SHGC-36589;WI-13598;WI-21214 AQP-4;HMIWC2;MGC22454;MIWC;WCH4 OTTHUMP00000162792;aquaporin 4 isoform delta4;aquaporin type4;aquaporin-4;mercurial-insensitive water channel APPROVED protein-coding ENSG00000171885 HGNC:637 02631 600308 REVIEWED 737143 AQP6 aquaporin 6, kidney specific The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008] 12 12 12 q13 49162741 49167043 + 50360874 50370922 + 49967090 49977139 + 1580863;2312795;6480464 19096774 12177001;12477932;12522663;19680475;20461409;8812490;9268644 363 F8VW87;Q13520 ABBA01031546;AC025154;AL137716;AMYH02026451;BC065275;CH471111;NM_001652;U48408;U48409;XM_006719375;XR_245925 AAB41566;AAB41567;AAI56044;AAI56930;CAB70889;EAW58111;NP_001643;Q13520;XP_006719438 Hs.54505 1689999;1690838;5037552 D8S2279;RH98744;RH98915 AQP-6;AQP2L;KID;hKID OTTHUMP00000164830;aquaporin 2-like, kidney specific;aquaporin 6;aquaporin-2-like;aquaporin-6;aquaporin-6, kidney specific;kidney-specific aquaporin APPROVED protein-coding ENSG00000086159 HGNC:639 03226 601383 REVIEWED 1344809 AQP10 aquaporin 10 This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 127365303 127369516 + 154293592 154297801 + 154321116 154325325 + 1580863;2312795;6480464 19096774 11573934;12084581;12477932;15489334;15898950;17207965;17575980;17975119;18678926;19023099;19204726;19913121;20628086;21691092;21733844;23382902 89872 Q96PS8 AB066105;ABBA01049481;AF159174;AK314993;AL162591;AL354980;AMYH02001921;BC069607;BC074896;BC074897;CH471121;NM_080429 AAH69607;AAH74896;AAH74897;AAL25998;ADQ32883;BAB91223;BAG37489;EAW53209;EAW53210;EAW53211;NP_536354;Q96PS8 Hs.259048 AQP-10;AQPA_HUMAN OTTHUMP00000034195;OTTHUMP00000034196;aquaglyceroporin-10;aquaporin-10;small intestine aquaporin APPROVED protein-coding ENSG00000143595 HGNC:16029 07361 606578 REVIEWED 1347753 AQP4-AS1 AQP4 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 18 18 18 q11.2 21255439 21326075 + 24444555 24770662 + 26865308 26935946 + 8554872 12477932;14702039;15489334 147429 ABBA01022568;ABBA01022569;AC010854;AC018371;AK055069;AMYH02034460;BC043377;BC105127;BC112070;CH471088;HG509870;HG509871;HG509872;KF456359;NR_026908 BAB70850;EAX01231 Hs.559280 1649427;1681090;1712663;5014051;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;G31028;L18426;RH121996;RH92179 C18orf16;CHST9-AS1;FLJ30507;MGC138275 APPROVED ncrna ENSG00000260372 HGNC:26399 08510 PREDICTED 68638 AQP3 aquaporin 3 (Gill blood group) This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. [provided by RefSeq, Aug 2011] 9 9 9 p13 33371265 33377697 - 33441152 33447631 - 33441154 33447633 - 704374;704407;1580863;2312795;5490152;6480464;6484113;6907045 12517734;12595491;19096774;19616516 11751877;11918716;12234316;12239222;12477932;12522663;12769265;12773542;14514735;14521551;14675200;14702039;15164053;15375592;15489334;15703994;16043462;16344560;16596446;16638588;16672223;16918518;17056099;17471492;17545093;17943189;17968524;18036046;18197497;18247144;18280225;18435676;18543247;18601899;18678926;18718702;19184071;19322201;19393693;19545896;19619514;19913121;20106632;20141731;20364107;20428189;20485009;20546216;20596606;20628086;21063116;21135872;21191421;21237499;21252246;21276418;21401805;21457357;21538271;21907710;22197473;22211241;22535323;22576684;22624030;22808259;22814259;22901156;23017148;23041062;23043286;23152856;23165320;23463292;23797770;24224160;24260356;24338365;24418925;24452376;24887009;7543093;7558005;8641135;9525951;9558461 360 Q92482 AB001325;ABBA01065052;AJ493597;AK095363;AK292208;AK303206;AK315760;AL356218;AMYH02019421;BC012988;BC013566;BF437236;BT007199;CH471071;CR541991;CR542025;D50486;DA976040;DQ083949;JA738585;NG_007476;NM_004925 AAH13566;AAP35863;AAY68214;BAA09077;BAA19237;BAF84897;BAG38113;BAG64296;CAD38526;CAG46788;CAG46822;CCF76945;EAW58500;EAW58501;EAW58502;EAW58503;EAW58504;NP_004916;Q92482 Hs.234642 1663111;1773868;1797292;2145055;5113609;5491306 AQP3_2497;Aqp3;RH46411;RH46932;SGC34487;SHGC-34032 AQP-3;GIL Gill blood group;OTTHUMP00000021206;aquaglyceroporin-3;aquaporin 3;aquaporin 3 (GIL blood group);aquaporin-3 APPROVED protein-coding ENSG00000165272 HGNC:636 08970 600170;607457 REVIEWED 736375 AQP7 aquaporin 7 Aquaporins/major intrinsic protein (MIP) are a family of water-selective membrane channels. Aquaporin 7 has greater sequence similarity with AQP3 and AQP9 and they may be a subfamily. Aquaporin 7 and AQP3 are at the same chromosomal location suggesting that 9p13 may be a site of an aquaporin cluster. Aquaporin 7 facilitates water, glycerol and urea transport. It may play an important role in sperm function. [provided by RefSeq, Jul 2008] 9 9 9 p13 33315070 33332637 - 33384948 33402643 - 33384950 33402645 - 69753;1580863;1626292;1626289;2312795;6480464 15338270;17566090;19096774;9252401 11952783;12477932;14702039;15164053;15252450;16325777;17351148;17562358;18401671;18718702;19615702;20463097;21609198;22206455;22425521;22899094;23001483;23235401;23290745;9405233;9714739;9824541;9931374 364 B7Z4U2;B7Z7F6;O14520;Q5T5L3;Q5T5L4;Q5T5L5;Q5T5M0;Q5T5M1;Q6P5T0 AB006190;AB052626;ABBA01065057;ABBA01065058;ABBA01065059;ABBA01065060;AK055744;AK294028;AK297860;AK297885;AK300716;AK301949;AK310456;AK315879;AL356218;AMYH02019420;BC062701;BC119672;BC119673;CH471071;DQ786216;NG_027764;NM_001170;XM_005251453;XM_005251454;XM_006716765 AAH62701;AAI19673;AAI19674;BAA21745;BAC05693;BAF98770;BAH11653;BAH12678;BAH12686;BAH13332;BAH13592;EAW58505;EAW58506;NP_001161;O14520;XP_005251510;XP_005251511;XP_006716828 Hs.455323 5022578;5111959;5124703 D1S1423;G43491;RH64915 AQP-7;AQP7L;AQP9;GLYCQTL;MGC149555;MGC149556 AQPap;OTTHUMP00000021216;OTTHUMP00000021220;aquaglyceroporin-7;aquaporin adipose;aquaporin-7;aquaporin-7-like APPROVED protein-coding ENSG00000165269 HGNC:640 04277 602974;614411 REVIEWED 1603335 AQP7P1 aquaporin 7 pseudogene 1 INTERACTS WITH cadmium atom 2 9 9 q13 89603292 89622593 + 67270215 67289492 - 63315243 63334520 - 6480464 11952783;12477932 375719 AB052627;AB052630;ABBA01017695;ABBA01017696;AK128231;AL845321;BC070322;BC071803;NR_002817;XR_426389 Hs.658215 5111959;5124703 G43491;RH64915 bA251O17.3 pseudo HGNC:32048 PROVISIONAL 1604890 AQP7P3 aquaporin 7 pseudogene 3 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); FOUND IN extracellular vesicular exosome 2 9 9 p12 89603533 89636019 + 42858152 42893138 + 65877574 65912560 + 6480464 11952783;12477932 441432 A6NL99 AC129778;AMYH02020798;BC052332;NR_026558 A6NL99 Hs.743215 AQPap-3 pseudo HGNC:31976 17406 PROVISIONAL 737411 AQP8 aquaporin 8 Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008] 16 16 16 p12 24008196 24020163 + 25228285 25240253 + 25216964 25228932 + 1580863;6480464;5490152;6907045 19616516 10393433;11231887;11329013;11717661;12477932;12712100;12801959;15489334;17207965;17461471;17545093;17636236;18788571;18948439;19087520;19563057;20144166;20424473;20732771;22192778;22901156;23595390;23679281;23953589;24055034;24440277;8125298;9325099;9806845 343 O94778;Q53GF6 AB013456;ABBA01017123;AC008741;AF067797;AK222964;AK222975;AMYH02031742;BC040630;BG221545;CH471145;NM_001169 AAF19050;AAH40630;ADQ33080;BAA34223;BAD96684;BAD96695;EAW55769;EAW55770;NP_001160;O94778 Hs.176658 AQP-8 OTTHUMP00000122504;aquaporin-8 APPROVED protein-coding ENSG00000103375 HGNC:642 04778 603750 REVIEWED 735505 AQP9 aquaporin 9 The aquaporins are a family of water-selective membrane channels. The protein encoded by this gene allows passage of a wide variety of noncharged solutes. It stimulates urea transport and osmotic water permeability; there are contradicting reports about its role in providing glycerol permeability. The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. [provided by RefSeq, Jul 2008] 15 15 15 q 35319964 35368212 + 58430374 58478110 + 58138209 58185911 + 1580863;2312795;2326035;6480464;6907045;7240710 19096774;20216911 10564231;11466204;11597198;12477932;12681500;15336539;15489334;15592307;16480766;17081983;17346701;17525633;17545093;17636236;18197497;18401671;18652774;18718702;18762715;19100828;19481256;19615702;19629726;19772916;19802720;19916714;19953087;20220109;20378617;20379614;20424473;20587318;20732771;20960106;21873454;21945491;22262958;22319637;22425521;22916037;23238960;23383108;23448163;23563754;23573219;23612070;23866971;24086629;9514918;9733774 366 H0YK62;O43315 AB008775;ABBA01038985;ABBA01038986;AC025431;AC066616;AF016495;AF102870;AK300055;AK313214;AMYH02030522;BC026258;BE042553;CB528930;CH471082;CR542027;DC410284;HC250945;HC311134;NG_011975;NM_020980 AAF16677;AAF27983;AAH26258;BAA24864;BAG36029;BAG61864;CAG46824;CBJ05770;CBJ21222;EAW77532;EAW77533;EAW77534;NP_066190;O43315 Hs.104624 1339044;1676188;1681999;1724907;1759003;1767355;1794866;1795220;1849119;2181789 AQP9_51;ATC-P10583;D15S1283;D15S198;PMC61180P1;RH119218;RH1645;RH98507;SHGC-150628;SHGC-2193 AQP-9;HsT17287;SSC1 OTTHUMP00000163469;aquaglyceroporin-9;aquaporin-9;small solute channel 1 APPROVED protein-coding ENSG00000103569 HGNC:643 04223 602914 REVIEWED 1601913 AQP7P2 aquaporin 7 pseudogene 2 INTERACTS WITH aflatoxin B1; benzo[a]pyrene 2 9 9 q21.11 89603418 89621393 + 69633922 69651282 - 64621504 64638864 - 6480464 11952783;12477932 389756 AL445665;AMYH02020865;NG_023409 pseudo HGNC:32049 INFERRED 1314717 AQR aquarius intron-binding spliceosomal factor ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA splicing, via spliceosome (inferred); PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN catalytic step 2 spliceosome; membrane; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 15 15 15 q14 11907907 12021336 - 35148552 35261995 - 34856351 34969794 - 6480464;6907045;8554872 11991638;12477932;14702039;15489334;16949364;18854154;19615732;19946888;20360068;20379614;20588308;21139048;21890473;21906983;22365833;22446626;22586326;23000965;23084401;24457600;24639526;24816145;9626505;9628581 9716 H0YH15;H0YLN9;O60306 AB011132;ABBA01038515;ABBA01038516;ABBA01038517;AC018868;AK001173;AK291615;AK315815;AL703893;AMYH02030179;AMYH02030180;AMYH02030181;BC027452;BC036913;BC070379;BC108262;BC127111;BC127112;BX647820;BX648611;CH471125;EF553519;NM_014691 AAH36913;AAH70379;AAI08263;AAI27112;AAI27113;ABQ66265;BAA25486;BAF84304;BAF98706;EAW92319;EAW92320;EAW92321;NP_055506;O60306 Hs.510958 1671577;2109053;2144276;2191387 AQR_8983;MARC_21173-21174:1027090229:1;WI-14003;WI-16389 DKFZp686B23123;IBP160;KIAA0560;fSAP164 aquarius homolog;functional spliceosome-associated protein 164;intron-binding protein aquarius;intron-binding protein of 160 kDa APPROVED protein-coding HGNC:29513 12468 610548 VALIDATED 1348364 ARAF A-Raf proto-oncogene, serine/threonine kinase This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2012] X X X p11.4-p11.2 51615774 51626577 + 47420499 47431320 + 47561100 47571921 + 5686410;6480464;6907045;8554872 22177953 10848612;10967104;11812000;11909642;11952167;11969417;12477932;1262038;12620389;14684750;14688025;15324660;15489334;15736953;15763428;15772651;15778465;16189514;16344560;16964243;16980614;17081983;17353931;17380122;17535970;17603482;17979178;18662992;19608861;19667065;20145135;20706999;20936779;21139048;21903422;21988832;22268729;22926515;22939624;23352452;23591895;23602568;24114843;24250222;24255178;24447338;24457600;24652991;24816145;25036637;2717185;3029685;3529082;7731720;8020955;8157000;8394352;8619474;8621729;9042965;9110174 369 B4DMG5;B4DV85;P10398;Q96II5 AB158254;AB208831;ABBA01052378;ABBA01052379;AF052136;AK130043;AK297453;AK300975;AK307747;AMYH02039288;BC002466;BC007514;BT019864;CA424869;CH471164;DA264472;DC362427;KF459100;L24038;M13829;NG_016339;NM_001256196;NM_001256197;NM_001654;U01337;X04790;XM_006724529;Z84466 AAA65219;AAB03517;AAB08754;AAH02466;AAH07514;AAV38667;ABM83582;ABM86822;BAD92068;BAE66645;BAG59877;BAG62597;CAA28476;EAW59310;EAW59311;EAW59312;NP_001243125;NP_001243126;NP_001645;P10398;XP_006724592 Hs.446641 1657346;1658844;1678731;1685431;1689961;1702190;1793066;1850481;2150920;2218238 ARAF1__4348;G23742;GDB:182582;PMC193924P5;RH79745;RH79877;RH93525;SGC30176;STS-M13829;WI-6972 A-RAF;ARAF1;PKS2;RAFA1 A-Raf proto-oncogene serine/threonine-protein kinase;OTTHUMP00000023212;Oncogene ARAF1;Ras-binding protein DA-Raf;proto-oncogene A-Raf;proto-oncogene A-Raf-1;proto-oncogene Pks;serine/threonine-protein kinase A-Raf;v-raf murine sarcoma 3611 viral oncogene homolog 1 APPROVED protein-coding ENSG00000078061 HGNC:646 02405 311010 REVIEWED 3277469 AQP7P4 aquaporin 7 pseudogene 4 9 9 q13 67038569 67048428 + 63133597 63143456 + 100132938 AL591379;AMYH02020782;NG_021659 pseudo HGNC:32056 INFERRED 8663374 ARAFP1 ARAF pseudogene 1 7 7 7 57117117 57117732 - 63398281 63398896 - 63937903 63938518 - 100421741 ABBA01027968;AC092634;AMYH02015847;NG_026477 pseudo HGNC:50824 INFERRED 1604505 AQPEP laeverin ENCODES a protein that exhibits metallopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); cyclosporin A 5 5 5 q23.1 111246534 111311673 + 115298151 115363303 + 115962454 116027606 + 6480464;8554872 12477932;14702039;14706636;15489334;15897020;16804865;17525158;19578876;19819873;20379614;21212512;22402206 206338 Q0P5U8;Q6Q4G3 ABBA01069029;AC010282;AC034236;AK027809;AK075131;AK291655;AMYH02012011;AY560010;BC036440;BC045809;BC060869;BC068560;BC070028;BC094716;BC109022;BC109023;BX096521;CH471086;KF457980;NM_173800;XM_005271919;XM_006714571;XR_427708 AAH60869;AAH68560;AAI09023;AAI09024;AAS66719;BAC11422;BAF84344;EAW48946;EAW48947;EAW48948;EAW48949;EAW48950;NP_776161;Q6Q4G3;XP_005271976;XP_006714634 Hs.98288 1335267;1655033;1678963;1685265;1712965;1759731;1766983 D5S2055;RH120572;RH66556;RH98415;RH98999;SHGC-151261;SHGC-152535 AP-Q;APQ;FLJ90650;LVRN;MGC125378;MGC125379 CHL2 antigen;OTTHUMP00000159130;OTTHUMP00000222937;aminopeptidase Q APPROVED protein-coding ENSG00000172901 07118 610046 VALIDATED 6481281 ARAP1-AS1 ARAP1 antisense RNA 1 100874075 AP003065 APPROVED ncrna HGNC:39993 2306588 ARAFP3 ARAF pseudogene 3 7 7 7 q11.21 59675983 59676957 - 62803095 62804112 + 63342717 63343734 + 1505215;9847074 285893 ABBA01018529;AC006455;NG_003157 1667105 ARAF2 ARAF3P;ARAFPS2 APPROVED pseudo HGNC:35474 INFERRED 5131395 ARAP1-AS2 ARAP1 antisense RNA 2 11 11 q13.4 69716083 69721727 + 72411519 72416889 + 100506020 AK125753;XR_110891;XR_111206;XR_171905 Hs.503165 1782472 SHGC-156281 FLJ43765 APPROVED ncrna HGNC:39994 1606341 ARAFP2 ARAF pseudogene 2 7 7 7 q11.21 59675988 59676957 - 62864760 62865776 - 63404382 63405398 - 12477932;1505215;2717185;8020955;9847074 644000 AC073188;AMYH02015830;BC033982;L24037;NG_008381 1667105 ARAF2 ARAF2;ARAF2P;PKS1 ARAFPS APPROVED pseudo HGNC:647 INFERRED 735652 AR androgen receptor The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. 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367 E7EVX6;E9PEG3;F1D8N5;F5GZG9;P10275 ABBA01067242;ABBA01067243;ABBA01067244;ABBA01067245;ABBA01067246;ABBA01067247;ABBA01067248;ABBA01067249;ABBA01067250;ABBA01067251;ABBA01067252;ABBA01067253;ABBA01067254;ABBA01067255;ABBA01067256;ABBA01067257;ABBA01067258;ABBA01067259;ABBA01067260;ABBA01067261;AF162704;AF321914;AF321915;AF321916;AF321917;AI352339;AL049564;AL158016;AL356358;AMYH02039638;AX453758;BC132975;CH471132;FJ235919;FJ235920;GU208210;HQ692823;JB048765;KF720403;KF720404;KF720405;KJ534771;L29496;M20132;M20260;M21748;M23263;M27430;M34233;M35851;M58158;M73069;NG_009014;NM_000044;NM_001011645;S79366;S79368;U16371 AAA51729;AAA51735;AAA51770;AAA51771;AAA51772;AAA51774;AAA51775;AAA51778;AAA51780;AAA51886;AAB21256;AAB21257;AAB60346;AAD45921;AAI32976;AAK09423;AAK09424;AAK09425;AAK09426;ACN39562;ACN39563;ACZ81436;ADZ17334;AHC70786;AHC70787;AHC70788;AHW56411;CCV20035;EAX05380;NP_000035;NP_001011645;P10275 Hs.76704 1662767;1667291;1677790;1702308;1702966;1703046;1729259;1729269;1729273;1729277;1729279;1740911;1740915;1740917;1740919;1740931;1740933;1740935;1740937;1740939;1740941;1740943;1741845;1742003;1742277;1742377;1744515;1745941;1792150;1793336;1793338;1793340;1797302;1854524;2119949;2122463;2124270;2137901;2154697;2190489;5117446;7185477 AF020219;AR;AR_1980;D19S216;DXS1397;DXS7498;DXS7751;DXS9736;G64112;G64113;G64114;G64115;G64116;G64286;GDB:176283;GDB:176286;GDB:176287;GDB:176288;GDB:176322;GDB:176323;GDB:176324;GDB:176326;GDB:176327;GDB:176328;GDB:176329;GDB:185508;GDB:188670;GDB:194743;GDB:196546;GDB:197027;GDB:511610;GDB:555517;GDB:600694;PMC137585P1;PMC20963P1;PMC20963P2;PMC20963P3;RH11082;RH99038;STS-M20132;STS-N64522;WI-20403 AIS;DHTR;HYSP1;KD;NR3C4;SBMA;SMAX1;TFM HUMARA;Kennedy disease;OTTHUMP00000023450;OTTHUMP00000217211;androgen nuclear receptor variant 2;dihydrotestosterone receptor;nuclear receptor subfamily 3 group C member 4;spinal and bulbar muscular atrophy;testicular feminization APPROVED protein-coding ENSG00000169083 HGNC:644 02437 176807;300068;300633;312300;313200;313700 REVIEWED 1344946 ARCN2 archain 2 371 HGNC:650 1315077 ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008] 4 4 4 p14 36507143 36685553 - 36067620 36245979 - 36065998 36244357 - 1580863;6480464;6907045;8554872 11804589;11804590;12477932;15815621;17077126;17081983;18615156;20467438;20823205;22959728;23251661;23295182;9628581;9847074 116984 A7E2A5;D6RAD6;D6RC39;Q8WZ64 AB011152;ABBA01074291;AC098827;AC104078;AC108033;AC109818;AC116623;AF411982;AF439781;AK126864;AMYH02009018;AW274408;AY049733;BC105089;BC105091;BC150258;BX104334;CH471069;NM_015230;XM_005262638;XM_005262640;XM_005262642;XM_005262643;XM_006713991 AAI05090;AAI05092;AAI50259;AAI60097;AAL04166;AAL12170;AAL32459;AAY40927;BAA25506;EAW92870;EAW92871;EAW92872;NP_056045;Q8WZ64;XP_005262695;XP_005262697;XP_005262699;XP_005262700;XP_006714054 Hs.479451 1357240;1716405;1728087;1739053;1848845;1848847;2218370;7184810 CENTD1_4556;D21S1261;D4S2701;G63315;RH121383;SHGC-24738;SHGC-50521 CENTD1;FLJ13675;FLJ44916;KIAA0580;PARX;cnt-d1 Arf and Rho GAP adapter protein 2;OTTHUMP00000123468;arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2;centaurin, delta 1;centaurin-delta-1 APPROVED protein-coding ENSG00000047365 HGNC:16924 09439 606645 REVIEWED 1321262 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 11 11 11 q13.4 69700678 69768000 - 72396114 72463465 - 72685069 72752389 - 2316188;6480464;6484113;6907045;8554872 14559250 11804589;11804590;12168954;12477932;15489334;15607035;16169070;16344560;17081983;18003747;18165900;18764928;18939958;19380743;19531213;19666464;19738201;20360068;20554524;20581827;20889853;21139048;21267535;21275903;21832049;21873549;21890473;21900206;22357923;22446963;22573888;22581228;24439111;9872452 116985 E7EU13;F5GWN4;F5GWQ2;F8WBT0;H0YGD1;Q96P48 AB018325;ABBA01017533;ABBA01017534;AF411983;AJ621557;AJ706973;AK160383;AMYH02025079;AP003065;AY049732;AY553630;BC008315;BC021244;BC056401;BC140792;BC144562;BQ921498;CD251362;CH471076;DA186424;NM_001040118;NM_001135190;NM_015242 AAH08315;AAH56401;AAI40793;AAI44563;AAL04167;AAL12169;AAT36325;BAA34502;BAD18726;CAF21317;EAW74863;EAW74864;EAW74865;EAW74866;NP_001035207;NP_001128662;NP_056057;Q96P48 Hs.503165 1765247;1782472;1788420;2175645;2183536;2218372 A006F43;CENTD2_4557;D11S1002;SHGC-148738;SHGC-156281;fb93h06.x1 CENTD2;KIAA0782;cnt-d2 ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin homology domains-containing protein 1;OTTHUMP00000211458;OTTHUMP00000211459;OTTHUMP00000211460;OTTHUMP00000211461;OTTHUMP00000211462;OTTHUMP00000211463;arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1;centaurin, delta 2;centaurin-delta-2 APPROVED protein-coding ENSG00000186635 HGNC:16925 09440 606646 REVIEWED 1344658 ARCN1 archain 1 This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 115603886 115634520 + 118443078 118473748 + 118572363 118603033 + 1580863;6480464 10921873;11031247;12388752;12477932;14729954;15489334;16196087;16344560;16956762;1898986;19615732;19946888;20360068;21139048;21832049;21890473;21906983;21963094;22053931;22505724;22623428;22750876;22863883;22939629;23000965;23300798;24457600;24816145;25015289;25036637;7782067;8355790;8533093;8599108;8854871;8858162;8940050;9482852;9751720 372 B0YIW5;B0YIW6;E9PK34;P48444 AA856562;ABBA01039702;ABBA01039703;AK304019;AK312298;AMYH02025644;AMYH02025645;AP000941;AU125652;BC064936;BC080638;BC093636;BC093638;BI560739;BQ018687;BX640860;CH471065;CR988766;DB216489;EF444951;NM_001142281;NM_001655;X81197;XM_005271542 AAH64936;AAH93636;AAH93638;ACA05943;ACA05944;BAG35225;BAG64934;CAA57071;CAE45922;EAW67397;EAW67398;EAW67399;NP_001135753;NP_001646;P48444;XP_005271599 Hs.33642 1654587;1706252;1725761;2131558;2191203;5022578;5037552 D1S1423;D8S2279;G62126;HSC26A042;MARC_16122-16123:1018032385:1;SHGC-80669;WI-12394 COPD OTTHUMP00000232677;OTTHUMP00000232678;OTTHUMP00000232680;archain vesicle transport protein 1;coatomer delta subunit;coatomer protein complex, subunit delta;coatomer protein delta-COP;coatomer subunit delta;delta-COP;delta-coat protein APPROVED protein-coding ENSG00000095139 HGNC:649 02893 600820 REVIEWED 730952 ARC activity-regulated cytoskeleton-associated protein INVOLVED IN cell migration; cytoskeleton organization; regulation of cell morphogenesis; ASSOCIATED WITH Hearing Loss; Hearing Loss, Noise-Induced (ortholog); Musculoskeletal Abnormalities (ortholog); FOUND IN cytoplasm; plasma membrane; INTERACTS WITH (S)-nicotine; all-trans-retinoic acid; amiodarone 8 8 8 q24.3 140003980 140007899 - 143692405 143695833 - 142611044 142614472 - 734603;6480464;8655538;8655559;8655535;7240710 10196175;17275194;18524887;18607918 10970730;11117363;12477932;15103018;15489334;16189514;17120280;17466953;21834987;21906983;22036569;22302811;22584581;22622366;23671107;24945773;9039502 23237 Q7LC44 ABBA01029411;ABBA01029412;AC139676;AF193421;AF248637;AI096899;AMYH02018925;AP006547;BC012321;BC075802;BI752734;CH471162;D87468;HI574238;NM_015193 AAF07185;AAG33705;AAH12321;AAH75802;ABM84592;ABM86706;BAA19667;CBX47608;EAW82320;EAW82321;NP_056008;Q7LC44 Hs.40888;Hs.743662 1795380;2147450 ARC_303;SGC31190 Arg3.1;KIAA0278 ARC/ARG3.1;OTTHUMP00000165993;activity-regulated gene 3.1 protein homolog protein-coding ENSG00000198576 HGNC:648 12469 612461;614937 VALIDATED 1345760 AREG amphiregulin The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014] 4 4 4 q13.3 72671109 72680980 + 75310853 75320726 + 74445136 74455009 + 1578719;1578721;1580863;1578718;2289950;2292662;2292664;2292660;2292661;2292663;2289980;2292658;2292659;2292665;2292668;2317963;6480464;6484113;6907045 10225449;11133810;11507076;11523048;12370739;14716741;15509566;15955087;15982853;16438846;16469638;16962163;18421211;8543395;8621257 10085134;10389762;10424781;10490105;11038170;11469683;11494130;11719440;11859273;11942969;12356750;12477932;12568494;12711607;12743035;1333777;14633617;14702039;15186320;15254267;15284208;15474502;15489334;15685553;15696081;15696083;15735670;15767261;16088955;16207795;16213893;16336275;16470170;16641105;16713569;16888076;17035230;17321672;17525275;17548638;17659070;17942395;17960400;17962208;18045238;18325497;18398673;18437539;18470483;18560449;18811692;18835871;18946024;18955794;19003995;19070973;19337692;19344731;19494503;19587163;19609315;19735466;19740107;19825997;19895983;19915156;19935651;20103632;2017164;20237496;20428186;20567134;20628624;20651071;20651357;20719813;20726858;20811902;20856199;21036386;21161326;21245963;21258428;21298020;21302279;21377153;21439861;21454516;21514161;21653755;21658434;21742971;21832049;21906983;21917092;2234093;22395988;22425981;22438584;22445895;22570239;22581387;22641668;22747683;22825057;22967896;2325643;23263765;23285165;23333304;23430747;23594797;23624749;23625463;23844004;23851501;23885463;23975434;24092824;24196392;24463227;2466334;3413110;7698025;7749138;9410906 374 D6RFX5;P15514 ABBA01022994;AC021180;AC149643;AK023449;AMYH02009483;AW014754;AY442340;BC009799;BC146953;BC146967;BT019866;CH471057;HY047499;M30698;M30699;M30700;M30701;M30702;M30703;M30704;NM_001657 AAA51773;AAA51781;AAH09799;AAI46954;AAI46968;AAR05438;AAV38669;ABM83816;ABM87136;EAX05710;NP_001648;P15514 Hs.270833;Hs.645475 1670005;1742203;2144341;2165455;2174153 D4S3138;GDB:193666;SHGC-50815;SHGC-59491;SHGC-59548 AR;CRDGF;MGC13647;SDGF AREGB;OTTHUMP00000160473;OTTHUMP00000219184;amphiregulin B;colorectum cell-derived growth factor;schwannoma-derived growth factor APPROVED protein-coding ENSG00000109321 HGNC:651 00093 104640 REVIEWED 5130823 ARF1P2 ADP-ribosylation factor 1 pseudogene 2 12 12 12 120916794 120917329 - 121282915 121283450 - 120845112 120845647 - 100420012 ABBA01020139;AC069214;AMYH02027385;NG_024047 2116297;2165705 D12S2073;D4S2372 pseudo HGNC:39883 INFERRED 1347923 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2008] 5 5 5 q31.3 137109696 137138526 - 141032968 141061800 - 141653401 141682233 - 1580863;6480464;6484113;6907045;8554872 11804589;12015138;12477932;12832619;14702039;15090612;15546919;15569923;17314030;19786092;21076469;21139048;21963094;21987572;22750419;23180820;23239578 64411 G5E9Y3;Q05CH1;Q8WWN8;Q9H7C1 ABBA01026404;ABBA01026405;AC022420;AJ310567;AK001579;AK024718;AK091385;AK290052;AK295768;AMYH02012347;BC009968;BC025757;BC027880;BX489939;CH471062;NM_022481;XM_005268497;XM_005268498;XM_005268499;XM_005268500;XM_006714791;XM_006714792;XM_006714793 AAH09968;AAH25757;AAH27880;BAB14973;BAF82741;BAG50942;BAG58593;CAC83946;EAW61904;EAW61905;EAW61906;EAW61907;NP_071926;Q8WWN8;XP_005268554;XP_005268555;XP_005268556;XP_005268557;XP_006714854;XP_006714855;XP_006714856 Hs.726187 1340382;1656696;1656698;1675072;1854122;2218998 A004M29;AF022188;AF052687;ARAP3__4349;D5S2010;WI-11093 CENTD3;DRAG1;FLJ21065;cnt-d3 ARF-GAP, RHO-GAP, ankyrin repeat and plekstrin homology domains-containing protein 3;Arf and Rho GAP adapter protein 3;OTTHUMP00000160010;OTTHUMP00000224030;OTTHUMP00000224031;PtdIns(3,4,5)P3-binding protein;arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3;centaurin, delta 3;centaurin-delta-3;phosphoinositide binding protein APPROVED protein-coding ENSG00000120318 HGNC:24097 09441 606647 REVIEWED 2299190 AREGB amphiregulin B ENCODES a protein that exhibits cytokine activity (inferred); epidermal growth factor receptor binding (inferred); growth factor activity (inferred); INVOLVED IN epidermal growth factor receptor signaling pathway; G-protein coupled receptor signaling pathway; positive regulation of DNA replication; PARTICIPATES IN epidermal growth factor/neuregulin signaling pathway; FOUND IN cell surface; extracellular space 4 q13.3 75480627 75490485 + 6480464;6484113 12743035;19740107;22747683;2466334 727738 AC149643;XM_001125684 P15514;XP_001125684 1670005;1742203;2144341;2165455;2174153 D4S3138;GDB:193666;SHGC-50815;SHGC-59491;SHGC-59548 OTTHUMP00000219196 protein-coding ENSG00000205595 HGNC:34509 1345639 ARF2 ADP-ribosylation factor 2 376 HGNC:653 1353880 ARF1 ADP-ribosylation factor 1 ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42 201460593 201477145 + 228270361 228286913 + 228082660 228099212 + 6480464;6484113;6907045 10022920;10102276;10198630;10212218;10318838;10402461;10589680;10623590;10720466;10747089;10747863;10749932;10801846;10828067;10858454;10921873;11031247;11076863;11252894;11278939;11297540;11301005;11373276;11694590;11703931;11707398;11726511;11914273;11926829;12477932;12509462;12519790;12636914;12799371;14636574;14654833;14654841;14665636;14676827;14690595;15107860;15143060;15202998;15308674;15336557;15489334;15489336;15581351;15680326;15684379;1577740;15781476;15793564;15814706;15876864;15944734;16169070;16196087;16223492;16308272;16341674;16381901;16545942;16669702;16710414;1680566;16912072;16956762;17112341;17347647;17451557;17555535;17693410;17981261;18187620;18439901;18551169;18597672;18689681;18693248;18781797;18990689;1899243;19141284;19149577;19199708;19359423;19596022;19738201;20089835;20164217;20214751;20228810;20360068;20457610;20529868;20861011;20881058;2105501;21068255;21139048;21319273;21454700;21478909;21789191;21844371;21853274;21890473;21893600;21906983;21917951;21963094;21988832;22025613;22053931;22158626;22268729;22291037;22304920;22348287;22359663;22573888;22573891;22623428;22678362;22761998;22797925;22907437;22939629;22952844;22962618;22971977;23000965;23255605;23415225;23707487;23783033;23804711;24196838;24250222;24407288;2474826;25015289;7552752;7898460;7990146;7990966;8288610;8529647;8533093;8599108;8619474;8661066;8861955;9038142;9110174;9197239;9417041;9653114;9688545;9733781;9756891;9819391 375 P84077 ABBA01005829;ABBA01005830;AF052179;AF055002;AF493881;AK000620;AK057838;AK057875;AK130737;AK293553;AK296020;AK297792;AL136379;AMYH02002837;BC009247;BC010415;BC010429;BC011358;BF337061;BG421840;BM353046;BM844480;BQ935470;BQ949763;BT007393;CH471098;M36340;M84326;M84327;M84332;NM_001024226;NM_001024227;NM_001024228;NM_001658 AAA35511;AAA35512;AAA35552;AAC09356;AAC28623;AAH09247;AAH10429;AAH11358;AAM12595;AAP36057;BAG57030;BAG58790;BAG60132;CAL38139;CAL38339;CAL38472;CAL38588;EAW69831;EAW69832;EAW69833;EAW69834;EAW69835;EAW69836;NP_001019397;NP_001019398;NP_001019399;NP_001649;P84077 Hs.286221 1660877;1677110;1677112;1686678;1795382 ARF1_1579;D1S3252;RH64921;RH79647;RH80951 OTTHUMP00000035715 APPROVED protein-coding ENSG00000143761 HGNC:652 00054 103180 REVIEWED 1354397 ARF3 ADP-ribosylation factor 3 ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns. [provided by RefSeq, Jul 2008] 12 12 12 q13 48124473 48145734 - 49329987 49351309 - 48931264 48957526 - 6480464;8554872 10413101;10506747;10623590;10749927;10828067;11124697;12090300;12135740;12221117;12477932;1447192;14690499;15489334;1577740;16396496;16713569;1744102;18781797;19135240;19322201;19913121;20357002;20360068;20628086;2105501;21139048;21890473;21906983;21963094;22053931;22505724;22586326;22623428;22678362;22939629;22971977;23000965;23464991;23783033;2474826;8355790;8473323;8491770;8661066;8947846;9038142 377 B7ZB63;F5H0C7;F5H1V1;F5H423;F5H6T5;P61204 ABBA01031494;ABBA01031495;AC073610;AF493882;AK291633;AK303726;AK316528;AMYH02026429;BC007647;BC007762;BC017565;BC028402;BM966960;BT006670;CH471111;M74491;M74492;M74493;NM_001659;XM_005268856;XM_006719391 AAA58359;AAB59425;AAH07647;AAH07762;AAH17565;AAH28402;AAM12596;AAP35316;ACE87829;ACT64578;BAF84322;BAG64702;BAH14899;EAW58025;EAW58026;EAW58027;NP_001650;P61204;XP_005268913;XP_006719454 Hs.119177 1645937;1795384;1797294;2118763;2177219;2178572;2182576 ARF3_53;ARF3_53.2;G10609;RH46941;SGC30712;STS-M79003;WI-7107 OTTHUMP00000165241;OTTHUMP00000237838;OTTHUMP00000237839;OTTHUMP00000237840;small GTP binding protein APPROVED protein-coding ENSG00000134287 HGNC:654 00056 103190 REVIEWED 5130838 ARF1P3 ADP-ribosylation factor 1 pseudogene 3 8 8 8 q24.13 121352276 121352788 + 125164165 125164677 + 124151924 124152436 + 442396 ABBA01037890;AC090192;AC090921;AC100871;AMYH02018712;NG_022434 1703516;1749877 SHGC-111604;SHGC-82647 pseudo HGNC:39884 INFERRED 1316884 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN negative regulation of apoptotic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; INTERACTS WITH benzene-1,2,4-triol; paracetamol; pentachlorophenol (ortholog) 14 14 14 q24.3 55166339 55218171 - 75127955 75179807 - 74661252 74713115 - 1580863;6480464;8554872 12477932;12508121;15489334;20379614;21139048;22939624;23479728;9205841 9870 G3V245;G3V2B5;G3V506;G3V5P7;H0YJ67;H0YJ69;H0YJF1;H0YJK5;O15033 AB002315;ABBA01030714;AC007956;AK296912;AK304217;AMYH02029521;AMYH02029522;BC032944;BI459956;BX248747;CH471061;KF455947;KF455950;NM_001039479;XM_005268244;XM_006720344 AAF61276;AAH32944;BAA20775;BAG59467;BAG65089;CAD66554;EAW81186;NP_001034568;O15033;XP_005268301;XP_006720407 Hs.497417 1649547;1677032;1679906;1682966;2180775 D14S1302;RH80624;RH91392;RH91897;WI-11347 KIAA0317 OTTHUMP00000205819;OTTHUMP00000246138;apoptosis-resistant E3 ubiquitin protein ligase 1;hypothetical protein LOC9870 APPROVED protein-coding ENSG00000119682 HGNC:20363 13794 615380 VALIDATED 1606063 ARF1P1 ADP-ribosylation factor 1 pseudogene 1 INTERACTS WITH isotretinoin 7 7 7 q21.3 89161313 89163790 + 94463139 94465616 + 94833827 94836304 + 6480464 442334 ABBA01045781;AL157375;AMYH02016286;CH236949;NG_005537 ARF1 pseudo HGNC:22500 INFERRED 1602801 ARF4P3 ADP-ribosylation factor 4 pseudogene 3 13 13 13 q32.3 82251832 82253602 - 101407646 101409416 - 100755392 100757162 - 390423 ABBA01027085;AL356732;AMYH02028612;CH471085;NG_008359 EAX09044 1658200 D3S3904 pseudo HGNC:32380 INFERRED 1352328 ARF4 ADP-ribosylation factor 4 This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p21.2-p21.1 57570930 57583662 - 57557090 57583215 - 57571363 57597488 - 1580863;6480464 10099884;10524252;10593962;10828067;11481332;12446727;12477932;1447192;15049518;15231747;15489334;16344560;17314511;18781797;1899243;19041174;19167051;19322201;19615732;19946888;20360068;20881058;2105501;2107548;21139048;21145461;21319273;21853274;21890473;21906983;21963094;21988832;22004728;22105072;22185782;22268729;22304920;22952844;23125841;23464991;23783033;24163370;24185178;24250222;24337577;24561123;7956370;8355790;8491770;9180902 378 C9J6P1;C9JAK5;C9JPM4;F8WDB3;P18085;U3KQF2 ABBA01024413;ABBA01024414;AC092418;AC114480;AF104238;AF493883;AK313008;AMYH02006872;BC003364;BC008753;BC016325;BC022866;CH471055;DA259855;M36341;NM_001660;U91920;U91921 AAA53081;AAD54674;AAH03364;AAH08753;AAH16325;AAH22866;AAM12597;ABM85008;ABW03653;BAG35844;EAW65344;NP_001651;P18085 Hs.652183 1658200;1740229;1740235;1788756;1795386;2112606;2135882;2151080;7186210 ARF4_55;D3S1623;D3S1637;D3S3904;D3S4365;HUMD2F08NC;RH129652;RH69960 ARF2 ADP-ribosylation factor 2;OTTHUMP00000213140;OTTHUMP00000213142;OTTHUMP00000213211 APPROVED protein-coding ENSG00000168374 HGNC:655 03107 601177 REVIEWED 1348063 ARF4P1 ADP-ribosylation factor 4 pseudogene 1 9 9 9 q34 107491974 107493090 + 136943753 136944869 + 134078631 134079747 + 2107548 380 ABBA01021992;AC000387;AL591386;AMYH02021846;M31889;NG_001075 ARF4P APPROVED pseudo HGNC:657 INFERRED 2792834 ARF4P5 ADP-ribosylation factor 4 pseudogene 5 1 1 1 p31.1 82289299 82290194 + 84038401 84039296 + 83572718 83573613 + 100316867 ABBA01045664;AC098654;AMYH02001371;NG_016179 pseudo HGNC:37629 INFERRED 732462 ARF5 ADP-ribosylation factor 5 This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010] 7 7 7 q31.3 122032245 122035480 + 127228406 127231759 + 127588352 127591705 + 6480464;6484113 10022920;10589680;10593962;10749932;10828067;11478794;11535061;11926829;12477932;12690205;1447192;15146197;15489334;16148947;16396496;17030804;17567994;18685082;19322201;1993656;2105501;21139048;21853274;21890473;21906983;21963094;22105072;22185782;22360420;22573888;22623428;22815487;23125841;23464991;23532257;24816145;8355790;8491770;9038142;9169151 381 A4D0Z3;C9J1Z8;P84085 ABBA01057684;AC000357;AF493884;AK297026;AK307297;AK308548;AK312107;AMYH02016707;BC003043;BC033104;BT007087;CH236947;CH471070;CN259625;M57567;NM_001662;U73002 AAA90927;AAC51299;AAH03043;AAH33104;AAM12598;AAP35750;BAG35043;BAG59555;EAL24320;EAW83630;EAW83631;NP_001653;P84085 Hs.653202 1661510;1801082;1814786;1816142;1822734;1824976;1825998;1831878;2088786;2088788;2088790;2088792;2088794;2088796;2088798;2088800;2088802;2088804;2088806;2088808;2088810;2088812;2088814;2088816;2088818;2088820;2088822;2088824;2088826;2088828;2088830;2088832;2118210;2122371;2196926;2196928;2196930;5095122;5491615 ARF5;D7S2378;D7S2779;ECD01410;ECD08424;ECD09111;ECD12455;ECD13587;ECD14108;ECD17077;MARC_26030-26031:1032381284:1;REN115652;REN115653;REN115654;REN115655;REN115656;REN115657;REN115658;REN115659;REN115660;REN115661;REN115662;REN115663;REN115664;REN115665;REN115666;REN115667;REN115668;REN115669;REN115670;REN115671;REN115672;REN115673;REN115674;REN115675;RH69260;stSG613722;stSG613724;stSG613725 OTTHUMP00000024864;OTTHUMP00000196795 APPROVED protein-coding ENSG00000004059 HGNC:658 00055 103188 REVIEWED 2798791 ARF4P4 ADP-ribosylation factor 4 pseudogene 4 13 13 13 q31.1 62357503 62364825 + 81455698 81463020 + 80881563 80888885 + 100129023 ABBA01021709;AL590807;AMYH02028357;NG_016164 pseudo HGNC:37628 INFERRED 1351076 ARF4P2 ADP-ribosylation factor 4 pseudogene 2 20 20 20 q13.33 58179363 58180664 - 61503331 61504632 - 62871979 62873280 - 170485 ABBA01021375;AL035669;AMYH02037442;NG_001031 dJ885L7.7 pseudo HGNC:16599 INFERRED 1352175 ARFGAP1 ADP-ribosylation factor GTPase activating protein 1 The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 q13.33 58581641 58598618 + 61904137 61921145 + 63272785 63289793 + 1580863;6480464;6484113;6907045 10704287;11031247;11210549;11703931;11780052;12181329;12379802;12477932;14702039;15246431;15302935;15489334;15790807;16169070;16316994;16571680;16956762;16964243;17207965;18029348;18541532;19015319;19055691;19299515;19338310;21139048;21499258;21832049;21900206;21906983;21963094;21988832;22363216;22423108;22863883;24623438;24816145;7969419;8125298;8533093;9405360;9476900;9733781 55738 E5RGL6;E5RHC5;E5RHH7;E5RHT6;E5RIU2;F8VWB3;F8VWH9;F8W1U7;H0YIQ0;Q53F62;Q8N6T3 AA565406;AB015340;ABBA01021393;AK001629;AK027268;AK027441;AK095048;AK123367;AK223427;AK296351;AK303454;AK308161;AL121827;AL137744;AMYH02037452;AMYH02037453;AY927573;BC000786;BC006085;BC011876;BC028233;BC127893;BQ717837;CH471077;DC300118;DC404137;NM_001281482;NM_001281483;NM_001281484;NM_018209;NM_175609;NR_104022;NR_104023;XM_006723823;XM_006723824;XR_430304 AAH00786;AAH06085;AAH11876;AAH28233;ADQ31806;BAA88117;BAA91796;BAB55009;BAB55113;BAD97147;BAH12326;BAH13964;CAB70901;EAW75290;EAW75291;EAW75292;EAW75293;EAW75294;EAW75295;EAW75296;NP_001268411;NP_001268412;NP_001268413;NP_060679;NP_783202;Q8N6T3;XP_006723886;XP_006723887 Hs.25584 2219000 ARFGAP1__4350 ARF1GAP;HRIHFB2281;MGC39924 ADP-ribosylation factor 1 GTPase activating protein;ADP-ribosylation factor 1 GTPase-activating protein;ADP-ribosylation factor GTPase-activating protein 1;ARF GAP 1;ARF1 GAP;ARF1-directed GTPase-activating protein;GAP protein;OTTHUMP00000031551;OTTHUMP00000196668;OTTHUMP00000196669;OTTHUMP00000226307;OTTHUMP00000226309;OTTHUMP00000226310;OTTHUMP00000243517 APPROVED protein-coding ENSG00000101199 HGNC:15852 06443 608377 REVIEWED 734181 ARF6 ADP-ribosylation factor 6 This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [provided by RefSeq, Jul 2008] 14 14 14 q21.3 30226871 30230907 + 50359736 50363772 + 49893018 49897054 + 6480464;6484113;6907045 10022920;10036235;10343114;10480924;10589680;10749932;10913182;11042152;11266366;11278939;11478794;11533043;11535061;11867621;11926829;12016212;12032069;12379803;12477932;12509462;12526811;12799371;12847086;12860984;12902467;14607973;14617802;14625293;14659046;14662749;14675422;14978216;15087504;15210957;15231847;15465916;15489334;15509780;15590645;15638726;15802264;15817676;15897187;16099990;16148947;16213822;16341674;16344560;16415858;16461286;16484220;16527809;16545942;16650966;16669702;16737952;17030804;17077126;17122362;17157409;17353931;17398095;17461797;17560945;17623778;17628206;17640372;17643375;17719203;17846866;18000860;18084281;18094045;18199687;18326492;18511905;18597672;18685082;18814847;19033387;19149577;19155310;19211056;19264606;19276089;19327867;19359423;19365558;19642173;19644450;19666113;19738201;19855388;1993656;19946888;19948740;20018626;20029029;20089652;20385769;20462959;20510928;20525696;20601426;20622010;20709080;20713492;20727515;20848231;20945365;2105501;21139048;21148312;21346189;21438025;21439824;21634118;21790911;21795701;21832049;21853274;21858086;21890473;21906983;21917951;21963094;22053287;22085542;22170068;22188517;22219378;22226746;22522702;22523074;22558309;22580824;22659138;22666423;22701712;22781129;22907437;22916275;22931251;22962618;23000965;23095975;23125841;23264734;23295182;23383273;23462101;23555901;23603394;23752192;23950892;24085844;24139303;24250222;24392021;24407288;24526684;24637612;24797263;24835390;24902879;7589240;7855600;7898460;7990966;8355790;8491770;8702973;9312003;9417041;9461590;9653160 382 P62330 ABBA01018124;AF047432;AF493885;AK313790;AL117621;AL121163;AL627171;AMYH02029158;AY296206;BC002952;BC008918;BC030291;BM838197;BT019868;CH471078;CR541939;CR541964;DA217686;M57763;NM_001663 AAA90928;AAC39877;AAH08918;AAM12599;AAP50257;AAV38671;BAG36527;CAG46737;CAG46762;EAW65740;NP_001654;P62330 Hs.525330;Hs.719973 1738943;1769645;1795388;2152210;2182960;5124381 ARF6_719;D14S793;RH80260;SHGC-2638;SHGC-64115;SHGC-64342 DKFZp564M0264 OTTHUMP00000178980 APPROVED protein-coding ENSG00000165527 HGNC:659 02714 600464 REVIEWED 736641 ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008] 20 20 20 q13.13 44242891 44357843 + 47538250 47653230 + 48921713 49036693 + 1300288;1580863;6480464;7240710;8554872;8699517 14647276 10212200;10716990;11013081;11665623;11777925;11780052;12051703;12477932;12571360;12606707;14702039;15198677;15231748;15302935;15385626;15705715;16320251;16477018;16866877;17081983;17276987;17360629;18003980;18203920;18417613;18625701;18832381;19384555;20360857;21139048;21309479;21789191;21890473;22190034;22623531;22863883;22908276;23383273;23386609;23755938;23812912;23918382;24489884;24816145 10564 Q59FR3;Q86TH5;Q9Y6D5 AB209397;ABBA01052729;ABBA01052730;AF084521;AK022623;AK074303;AK302526;AL049537;AL121903;AMYH02037199;AMYH02037200;AMYH02037201;BC050449;BC144625;BC144626;CH471077;KF456932;NG_011490;NM_006420;XM_005260252;XM_006723683 AAD38428;AAH50449;BAD92634;BAG51099;BAG63799;EAW75680;EAW75681;NP_006411;Q9Y6D5;XP_005260309;XP_006723746 Hs.62578 1645537;1655985;1660323;1671139;2148054;2177431;2184527;5022200;5022578 AL030970;AL031485;D1S1423;G18085;L18426;SHGC-52869;SHGC-64065;STS-R64296;WI-17563 BIG2;FLJ23723;PVNH2;dJ1164I10.1 OTTHUMP00000031231;brefeldin A-inhibited GEP 2;brefeldin A-inhibited guanine nucleotide-exchange protein 2 APPROVED protein-coding ENSG00000124198 HGNC:15853 09250 605371;608097 REVIEWED 1344539 ARFGAP3 ADP-ribosylation factor GTPase activating protein 3 The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008] 22 22 22 q13.2 27103053 27163910 - 43192530 43253408 - 42796524 42857402 - 1580863;6480464;6907045 10591208;10704287;11172815;12477932;12529303;14702039;15461802;15489334;15761153;17081983;17760859;18029348;19015319;19299515;19946888;20379614;21139048;21647875;21832049;21890473;21988832;23000965;24076238;24250222;24816145;8076819 26286 B0QYV8;B0QYV9;H0Y6A0;Q9NP61 ABBA01017923;ABBA01017924;AF111847;AK002083;AK022768;AK127525;AK297635;AK300531;AK307967;AK315720;AL049757;AL049758;AL137598;AL159143;AMYH02038469;BC005122;BC041383;BI547713;BQ019944;CA431867;CH471138;CR456382;DB458974;NM_001142293;NM_014570;XM_005261525 AAF40310;AAH05122;ABM83933;ABM87252;BAA92076;BAB14236;BAH12636;BAH13298;CAB70834;CAB76901;CAG30268;CAK54371;CAK54670;EAW73275;EAW73276;NP_001135765;NP_055385;Q9NP61;XP_005261582 Hs.685225 1657911;1687518;2142428;2142832;2219002;5019643;5022322;5022651;5037552;5109281 A006B18;ARFGAP3__4351;D11S2560;D11S2921;D1S1425;D8S2279;G06276;G29271;G32316;RH91173 ARFGAP1;FLJ45618 ADP-ribosylation factor GTPase activating protein 1;ADP-ribosylation factor GTPase-activating protein 3;ARF GAP 3;OTTHUMP00000198439;OTTHUMP00000221483 APPROVED protein-coding ENSG00000242247 HGNC:661 06444 612439 REVIEWED 732355 ARFRP1 ADP-ribosylation factor related protein 1 The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012] 20 20 20 q13.3 59014256 59023609 - 62329995 62339365 - 63698642 63708013 - 727256;1580863;6480464;8554872 8530503 10092663;10655513;11438518;11780052;12477932;14702039;15077113;15489334;15761153;16129887;17127620;19224922;22505585;23535732;23864651 10139 B7ZKY8;Q13795;V9GYH4 ABBA01021416;AF217796;AK095962;AL121845;AL522492;AL533893;AL833084;AMYH02037467;AMYH02037468;AW139294;BC021023;BC092480;BC093967;BC143447;BC143448;BC143467;BC143472;BC143477;BI524032;BI711667;BI819763;BM546222;BM549361;BP384879;BT019624;BT019663;BU526941;BX342690;BX342805;BX463457;CA489361;CH471077;CR456752;KF511326;NM_001134758;NM_001267544;NM_001267545;NM_001267546;NM_001267547;NM_001267548;NM_001267549;NM_003224;NR_051954;NR_051955;NR_051956;NR_051957;NR_051958;X91504 AAF35246;AAH92480;AAH93967;AAI43448;AAI43449;AAI43468;AAV38430;AAV38469;BAG53176;CAA62804;CAG33033;EAW75230;EAW75231;EAW75232;EAW75233;EAW75234;EAW75235;EAW75236;EAW75237;NP_001128230;NP_001254473;NP_001254474;NP_001254475;NP_001254476;NP_001254477;NP_001254478;NP_003215;Q13795 Hs.389277 2108587;2144442 SHGC-64071;TNFRSF6B_2708 ARL18;ARP;Arp1 ADP-ribosylation factor-related protein 1;ARF-related protein 1;OTTHUMP00000031584;SCG10 like-protein;helicase-like protein NHL APPROVED protein-coding ENSG00000101246 HGNC:662 05264 604699 REVIEWED 1349532 ARFIP2 ADP-ribosylation factor interacting protein 2 ENCODES a protein that exhibits GTP-dependent protein binding; phosphatidylinositol-4-phosphate binding; INVOLVED IN actin cytoskeleton organization; PARTICIPATES IN Arf family mediated signaling pathway; FOUND IN cell cortex; ruffle; trans-Golgi network membrane; INTERACTS WITH cyclosporin A; elemental selenium; hydroquinone O-beta-D-glucopyranoside 11 11 11 p15 6615970 6621655 - 6495913 6502709 - 6474683 6481479 - 1580863;6480464;6484113 11346801;11478794;11792819;11854752;12477932;12972563;15489334;15809304;16189514;16344560;21139048;21832049;21988832;22558309;22679020;22863883;23638170;23695357;8670882;9038142;9312003 23647 B4DUZ3;B4DXH2;E9PPY7;E9PRV8;P53365 ABBA01028669;AC084337;AK026390;AK300855;AK301856;AK301972;AK304512;AK309198;AK310267;AK310833;AK311004;AK311086;AK311655;AMYH02024270;AW612115;BC000392;BG745048;BM928413;BU627585;CH471064;DB099222;NM_001242854;NM_001242855;NM_001242856;NM_012402;U52522;X97567;XM_005252840 AAA97924;AAH00392;ABM82893;ABM86082;BAG62505;BAG63298;BAG63384;BAG65318;CAA66179;EAW68707;EAW68708;NP_001229783;NP_001229784;NP_001229785;NP_036534;P53365;XP_005252897 Hs.732203;Hs.75139 1667454;1699180;2114624;2126269;2152826;5022200;5022651 D11S2921;IB2126;L18426;RH103170;RH11646;STS-Z40796;WI-22461 FLJ18046;FLJ18697;FLJ99239;POR1 ADP-ribosylation factor-interacting protein 2;OTTHUMP00000164590;OTTHUMP00000231513;arfaptin 2;arfaptin-2;partner of RAC1 (arfaptin 2) protein-coding ENSG00000132254 HGNC:17160 07209 601638 VALIDATED 732329 ARG2 arginase 2 Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq, Jul 2008] 14 14 14 q24.1 48145655 48177498 + 68086579 68118437 + 67619862 67651720 + 734607;1580863;1300048;1626297;1626296;1626298;4143269;631989;4143187;4144054;4142834;4143274;4144088;4143282;4110828;5129207;5129205;4143278;6480464;6902923;6907045 11931836;12371970;12813022;12841630;16387594;16809898;17223136;18475148;18552509;19764983;20039818;20124949;20699748;21926276;9635249;9686347;9688940 11370664;11849441;12477932;12859189;15364894;15489334;15955070;16128822;16675494;16720041;17353439;18202758;18348861;18528866;19281908;19284655;19508396;19636440;19684035;19789190;19801451;20071203;20107769;20542107;20711410;20853600;20861464;20877624;21039601;21130456;21139048;22008221;22157935;22391327;22447968;22712848;22815199;23122700;23260169;23424623;23740519;23832324;23950140;24223914;24442486;24833798;24879052;8898077;8954792;9144563;9256072 384 P78540 ABBA01023707;AK312484;AL049779;AL132640;AL135439;AMYH02029401;AMYH02029402;AMYH02029403;AY074489;BC001350;BC008464;BC029050;CH471061;CR536550;D86724;HI574250;NG_011964;NM_001172;U75667;U82256 AAB39855;AAC51664;AAH01350;AAH08464;AAH29050;AAL71548;BAA13158;BAG35387;CAG38787;CBX47614;EAW80943;EAW80944;NP_001163;P78540 Hs.226007 1651497;1660435;1661399;1736444;1736472;1754183;1777644;1851799;2115946;2133381;2149917 A007B39;D14S1294;D14S707E;D14S721E;G35422;G36051;RH44731;RH68231;SHGC-132208;WI-18578;WI-19297 L-arginine amidinohydrolase;L-arginine ureahydrolase;OTTHUMP00000246880;arginase, type II;arginase-2, mitochondrial;kidney arginase;kidney-type arginase;non-hepatic arginase;nonhepatic arginase;type II arginase APPROVED protein-coding ENSG00000081181 HGNC:664 00143 107830 REVIEWED 732747 ARFIP1 ADP-ribosylation factor interacting protein 1 ENCODES a protein that exhibits phosphatidylinositol-4-phosphate binding; INVOLVED IN intracellular protein transport; regulation of protein secretion; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; Golgi membrane; trans-Golgi network membrane; INTERACTS WITH 1-nitropyrene; arsenous acid; benzo[a]pyrene diol epoxide I 4 4 4 q31.3 151025104 151157752 + 153701091 153833064 + 152779937 152911912 + 1580863;6480464;8554872 10413101;11337467;12477932;12606037;14702039;15146197;15489334;16344560;16396496;16712791;21110914;21890473;21906983;22118674;22863883;23000965;23695357;9038142;9694811 27236 B4DS69;B4E273;P53367;Q8N8M9 ABBA01070127;ABBA01070128;AC099339;AC106882;AC113155;AF124489;AI634366;AK096509;AK290472;AK299600;AK304141;AK316125;AMYH02010313;AMYH02010314;AU099007;AU139844;BC103759;BC105114;BC105116;BC143675;BC143676;CB127228;CH471056;CN305403;DA452239;DC346238;NM_001025593;NM_001025595;NM_001287431;NM_001287432;NM_001287433;NM_014447;U52521 AAA97923;AAD29390;AAI03760;AAI05115;AAI05117;AAI43676;AAI43677;BAC04806;BAF83161;BAG61531;BAG65035;BAH14496;EAX04968;EAX04969;EAX04970;EAX04971;EAX04972;NP_001020764;NP_001020766;NP_001274360;NP_001274361;NP_001274362;NP_055262;P53367 Hs.416089 1339232;1686104;1687285;1848936;7186915 D4S1058;D4S1588;RH98783;SHGC-67318 HSU52521;MGC117369 ADP-ribosylation factor-interacting protein 1;OTTHUMP00000220280;OTTHUMP00000220282;OTTHUMP00000220283;arfaptin 1;arfaptin-1 protein-coding ENSG00000164144 HGNC:21496 09331 605928 VALIDATED 1314646 ARFGAP2 ADP-ribosylation factor GTPase activating protein 2 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 cytoplasm; Golgi apparatus; nucleolus; INTERACTS WITH 2-methylcholine; atrazine; benzene 11 11 11 p11.2-p11.12 47325090 47337647 - 47185849 47199054 - 47164298 47177503 - 1580863;6480464;6907045 11278321;12477932;12880961;14690497;14702039;15489334;16341674;16903783;17760859;18029348;19015319;19299515;20858901;21139048;21182205;21890473;22375848;23383273;24816145 84364 E9PIY6;E9PJT7;E9PK28;E9PM18;E9PM63;E9PMR9;E9PMU9;E9PN48;E9PNY8;E9PQP3;G5E9L0;H0YCA3;H0YCL1;H0YDN9;H0YDX1;H0YF45;Q8N6H7 AB073358;ABBA01060721;AC090589;AK027482;AK098324;AK129511;AK300347;AK301785;AK304541;AK315992;AL834337;AMYH02024723;AMYH02024724;AMYH02024725;BC030148;BC036823;BM827445;CD366084;CH471064;NM_001242832;NM_032389;XM_005253166;XM_005253167;XM_005253168;XM_006718346 AAH30148;ACE86922;ACE87609;BAB55144;BAE45716;BAG53612;BAG63241;BAG65339;BAH13265;BAH14363;CAD39004;EAW67963;EAW67964;EAW67965;EAW67966;EAW67967;EAW67968;NP_001229761;NP_115765;Q8N6H7;XP_005253223;XP_005253224;XP_005253225;XP_006718409 Hs.436204 1650971;1679706;1686570;2134341;2161404;2191007;5114561;5491407 D11S3969;D11S4059;G09831;MARC_10267-10268:998918113:1;MARC_12871-12872:1000494470:1;RH10546;RH98304;T03584 FLJ14576;FLJ26000;IRZ;Nbla10535;ZNF289;Zfp289 ADP-ribosylation factor GTPase-activating protein 2;ARF GAP 2;GTPase-activating protein ZNF289;OTTHUMP00000234176;OTTHUMP00000234226;putative protein product of Nbla10535;zinc finger protein 289, ID1 regulated protein-coding ENSG00000149182 HGNC:13504 06069 606908 VALIDATED 1348298 ARFGEF1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011] 8 8 8 q13 64103297 64249319 - 68085746 68255912 - 67173511 67343687 - 1580863;6480464;8554872 10212200;10393931;10716990;11013081;12571360;12606707;14702039;14973189;15644318;16417406;16467138;17079330;17081983;17227842;17360629;18003980;18029348;18203920;18292223;18417613;18832381;19020088;19651892;20379614;20668708;20818722;21139048;21871176;21890473;22084092;22190034;23000965;23220274;23386609;23918382;23956138;24816145;8889548;8917509 10565 E5RHL7;E5RHZ1;E5RIF2;E5RJB2;E5RJN9;Q9Y6D6 AB209324;ABBA01041894;ABBA01041895;ABBA01041896;ABBA01041897;ABBA01041898;AC021321;AC087359;AF084520;AF111162;AI523655;AI692863;AI797683;AK001788;AK022557;AK025637;AK123660;AK127799;AL117446;AMYH02018126;AMYH02018127;AMYH02018128;AMYH02018129;AMYH02018130;AMYH02018131;AMYH02018132;AMYH02018133;AMYH02018134;BE048435;CA314908;CH471068;NM_006421;XM_005251134;XM_005251135;XM_005251136;XM_006716418 AAD38427;AAD43651;AAI72243;BAA91912;BAD92561;BAG51091;CAB55931;EAW86935;EAW86936;NP_006412;Q9Y6D6;XP_005251191;XP_005251192;XP_005251193;XP_006716481 Hs.656902 1657544;1667989;1683317;1689035;1722041;1724981;1735772;2108697;2128723;2154165;2171510;2187237;5092888 A009B39;ARFGEF1_9142;D8S1378E;G06218;G17212;G32393;G59907;L17871;RH118724;RH36443;RH91158;RH93991;WIAF-2084 ARFGEP1;BIG1;D730028O18Rik;DKFZP434L057;P200 ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited);OTTHUMP00000227052;OTTHUMP00000227095;brefeldin A-inhibited GEP 1;brefeldin A-inhibited guanine nucleotide-exchange protein 1;p200 ARF guanine nucleotide exchange factor;p200 ARF-GEP1 APPROVED protein-coding ENSG00000066777 HGNC:15772 09163 604141 REVIEWED 1353986 ARG1 arginase 1 Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 6 6 6 q23 132641003 132652108 + 131894344 131905472 + 131573204 131584332 + 1580863;1599208;1599211;2300098;4143185;4143230;4142795;4143187;631755;70249;4143282;4142796;634666;4144054;4144044;4142834;4142848;4143279;631989;1626298;4140476;4143368;1626296;5129205;5129207;6480464;6484113;6907045;7240710;8554872;8699517 11779202;11931836;12069499;12371970;12470967;12654563;12813022;15916970;16387594;16872590;17023552;17210712;17223136;17365572;17967788;18475148;18552509;19666777;20124949;20593143;20697209;4062872;7649538;9688940 10502833;10542097;11224628;11329013;11750286;11849441;12083807;12115381;12139964;12477932;14574404;1463019;14702039;15489334;1598908;15998894;16709958;16720041;17113085;17119118;17255300;17347269;17369504;17469833;17703412;17934065;18478052;18617639;18957279;19052914;19101531;19253371;19258923;19281908;19282757;19286931;19293328;19303401;19431148;19508396;19615732;19636440;19684035;19687346;19713467;19789190;19801451;19896478;19913121;19936428;20032293;20153713;20200399;20301338;20301396;20473875;20503287;20562859;20628086;20661013;20711410;20851928;20942574;21039601;21139048;21182205;21206033;21217072;21330347;21533769;21552555;21704615;21800051;21870783;21945700;21988832;22118674;22145905;22189190;22298472;2241902;22582175;22827286;22869115;22959135;23061982;23111165;23327293;23348905;23454751;23505904;2365823;23740519;23850196;23859858;24005081;24060156;24281232;24332808;24457600;24715304;2913054;3174433;3540966;3658675;3752085;9686347 383 P05089 ABBA01025891;AK128314;AL121575;AMYH02014494;AW236349;AY074488;BC005321;BC020653;BG217880;BG542163;BT006741;CH471051;M14502;NG_007086;NG_031860;NM_000045;NM_001244438;X12662 AAA51776;AAH05321;AAH20653;AAL71547;AAP35387;ABM82965;ABM86156;CAA31188;EAW48053;EAW48054;EAW48055;EAW48056;NP_000036;NP_001231367;P05089 Hs.440934 1668724;1674328;1742075;1742431;1852440;2140260 GDB:190876;GDB:196989;RH46810;SGC38314;SHGC-16174;STS-M14502 OTTHUMP00000017209;OTTHUMP00000017210;OTTHUMP00000017211;arginase, liver;arginase-1;liver-type arginase;type I arginase APPROVED protein-coding ENSG00000118520 HGNC:663 01947 207800;608313 REVIEWED 1605759 ARGFX arginine-fifty homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008] 3 3 3 q13.33 119696469 119719151 + 121281269 121309469 + 121562422 121590622 + 6480464;8554872 17005330;20565723 503582 A6NJG6 ABBA01016481;AC069239;AMYH02007527;AMYH02007528;BX282631;NM_001012659;XM_005247505 A6NJG6;NP_001012677;XP_005247562 Hs.224976 5015404;5015619;5015861;5020946;5021228;5021872;5022578;5024413;5037552;5117897;5118444;5118800;5120437;7185938 D10S16;D11S3114;D11S3316;D11S3663;D1S1423;D8S2279;GDB:312794;GDB:315881;GDB:631813;L17705;L17877;L17971;sY3084 OTTHUMP00000215153 APPROVED protein-coding HGNC:30146 18525 611164 VALIDATED 1602609 ARGFXP2 arginine-fifty homeobox pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 27388246 27389460 - 30477376 30478590 - 32150357 32151571 - 17005330 503640 AA613199;ABBA01000704;AC116407;AMYH02033313;NR_002222 Hs.631752 APPROVED pseudo HGNC:23977 PROVISIONAL 1605758 ARGFXP1 arginine-fifty homeobox pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008] 5 5 5 q23.2 117966257 117971118 + 122011395 122016233 + 122675700 122680538 + 17005330 503583 ABBA01068951;AC093267;AMYH02012094;NG_004853 1644390 D5S2313 APPROVED pseudo HGNC:17252 INFERRED 1350534 ARHGAP11B Rho GTPase activating protein 11B ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); small GTPase mediated signal transduction (inferred); FOUND IN cytosol (inferred); INTERACTS WITH calcitriol; dimethyl sulfoxide; lucanthone 15 15 15 q13.2 9717343 9722650 + 30918879 30931013 + 30626676 30638810 + 6480464 11829490;12477932;23962720;8889549 89839 Q3KRB8 ABBA01038317;ABBA01038318;AC091057;AC243687;AK310319;BC071990;BC105788;NM_001039841 AAI05789;NP_001034930;Q3KRB8 Hs.659621 1653367;1688124;1699844;1716483;1765371;1847117;2143742;2161823;2162498;2163842 D3S3152;G17839;G17845;RH103529;RH121527;RH77819;RH78987;SHGC-148860;SHGC-37549;STS-N90222 B'-T;D-X;FAM7B1;MGC104367 GAP (1-8);family with sequence similarity 7, member B1;rho GTPase-activating protein 11B;rho-type GTPase-activating protein 11B protein-coding ENSG00000187951 HGNC:15782 PROVISIONAL 1605984 ARGLU1 arginine and glutamate rich 1 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN mitochondrion; nucleus; INTERACTS WITH (+)-catechin; (-)-demecolcine; (S)-nicotine 13 13 13 q33.3 88039892 88064742 - 107195662 107220514 - 106542130 106568166 - 6480464 12477932;14702039;15302935;17207965;17332742;18187620;19322201;20098747;21139048;21319273;21454576;21832049;22365833;23602568;24457600;24816145 55082 Q5T256;Q9NWB6;X6R9F1 AA445997;ABBA01027048;AI623424;AK001016;AL442127;AMYH02028665;AMYH02028666;BC030508;BC050434;BC071587;CH471085;CR936748;DB482545;NM_018011;XR_243043;XR_429268;XR_429269 AAH50434;AAH71587;ADQ33089;BAA91467;EAX09086;EAX09087;NP_060481;Q9NWB6 Hs.508644 1707586;1849599;5022578;5022588 D1S1423;D5S1597E;RH44738;SHGC-84605 DKFZp686O08106;FLJ10154;RP11-297I6.1 OTTHUMP00000018683;arginine and glutamate-rich protein 1 protein-coding HGNC:25482 07648 614046 VALIDATED 1602334 ARHGAP11A Rho GTPase activating protein 11A ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); intracellular (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 15 15 15 q13.2 9717343 9733551 + 32906720 32931868 + 32613733 32614927 + 6480464;8554872 11829490;12477932;15489334;15778465;15782160;16565220;17207965;19471022;23000965;23251661;7584026;7584028 9824 H3BQ41;H3BR51;Q6P4F7 ABBA01038563;AC123768;AC243655;AK303025;AK316437;BC039563;BC050545;BC063444;CH471125;D87717;HG506843;NM_001286479;NM_001286480;NM_014783;NM_199357;XM_005254808;XM_006720788;XM_006725564;XM_006725565;XR_429508 AAH39563;AAH63444;ACT64423;ACT64424;ADQ31984;BAA13442;BAG64151;BAH14808;EAW92260;NP_001273408;NP_001273409;NP_055598;NP_955389;Q6P4F7;XP_005254865;XP_006720851;XP_006725627;XP_006725628 Hs.591130 1653367;1687003;2106431;2161823;2162498;2164846;2181650;5022651;5037552 ARHGAP11A__4355;D11S2921;D8S2279;RH17370;RH25252;RH78987;SHGC-35411;SHGC-37549;STS-N90222 GAP (1-12);KIAA0013;MGC70740 OTTHUMP00000159622;rho GTPase-activating protein 11A;rho-type GTPase-activating protein 11A protein-coding ENSG00000198826 HGNC:15783 10656 610589 VALIDATED 1314470 ARHGAP1 Rho GTPase activating protein 1 This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012] 11 11 11 p11.2 46846844 46870551 - 46698625 46722215 - 46677075 46700665 - 1580863;6480464 10551883;10555980;10684602;10799524;10843989;10954711;11311150;11523996;11741952;11927263;12477932;12501193;12901880;12944407;14697242;14702039;14718574;14724572;15169898;15262974;15282546;15489334;15588985;15596440;15652341;16189514;16331259;16380373;17222083;17611651;18029348;18060510;18331715;18579725;18619034;1903516;19056867;1905930;19066281;19103606;19302816;19801982;19911011;20660160;21051874;21139048;21169361;21890473;21906983;21988832;22504420;23000965;23175628;23200924;23667531;23684608;24086303;24654937;24797263;8253717;8288572;8805223;9009196;9034330;9262406;9268338;9338791;9407060;9427749;9535855;9548756;9599009;9799731;9846874 392 E9PNR6;H0YE29;Q07960 ABBA01060733;AC115088;AI640658;AK126404;AK298562;AK307296;AK310605;AMYH02024711;BC018118;CH471064;HY004921;NM_004308;U02570;U62794;Z23024 AAA16142;AAB66594;AAH18118;ABM85071;BAG60756;CAA80560;EAW67982;EAW67983;EAW67984;NP_004299;Q07960 Hs.138860 1651947;5024761;5037552 D8S2279;RH36905;RH79109 CDC42GAP;RHOGAP1;p50-RhoGAP;p50rhoGAP CDC42 GTPase-activating protein;GTPase-activating protein rhoGAP;GTPase-activating protein rhoOGAP;GTPase-activating protein, Rho, 1;OTTHUMP00000233485;OTTHUMP00000233486;RHOGAP;rho GTPase-activating protein 1;rho-related small GTPase protein activator;rho-type GTPase-activating protein 1 APPROVED protein-coding ENSG00000175220 HGNC:673 04108 602732 REVIEWED 1351374 ARHGAP16P Rho GTPase activating protein 16 pseudogene 14 14 14 q21.2 23924849 23925629 + 44064658 44065438 + 43595455 43596235 + 319102 ABBA01018029;AL358913;AMYH02029089;NG_002492 ARHGAP15P pseudo HGNC:19921 INFERRED 1322908 ARHGAP10 Rho GTPase activating protein 10 ENCODES a protein that exhibits Rho GTPase activator activity (inferred); INVOLVED IN apoptotic process (inferred); cytoskeleton organization (inferred); negative regulation of apoptotic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); intracellular (inferred); plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; calcitriol 4 4 4 q31.23 145974548 146315244 + 148653214 148993927 + 147732063 148072778 + 737633;6480464;8554872 12477932 11432776;15161933;15471851;19911011;20031603;20158304;20332263;20379614;21906983;22610502;8288572 79658 A1A4S6;H0Y8W5 AB050785;ABBA01070059;ABBA01070060;ABBA01070061;ABBA01070062;ABBA01070063;AC093678;AC093835;AC115621;AC125241;AK024549;AK123034;AK123785;AK130998;AK304458;AL834360;AMYH02010276;AMYH02010277;AMYH02010278;AMYH02010279;AMYH02010280;BC011920;BC047914;BC106018;BC109029;BC109030;BC126899;BC128055;BX647727;CH471056;CR457328;NM_024605;XM_005263214;XM_005263215;XM_005263216;XM_005263217 A1A4S6;AAH11920;AAH47914;AAI06019;AAI09030;AAI09031;AAI26900;AAI28056;BAB14924;BAB61771;BAG53857;BAG65274;CAD39024;CAG33609;EAX05009;EAX05010;NP_078881;XP_005263271;XP_005263272;XP_005263273;XP_005263274 Hs.368631 1339556;1341617;1643602;1650373;1651685;1666511;1668280;1727695;1763447;1763449;1851390;2123986;2125463;2153594;2177763 D4S3014;D4S3031;D4S3218;G33906;G34307;G63261;RH48780;SHGC-147160;SHGC-147161;SHGC-25164;SHGC-57571;SHGC-59314;SHGC-8151;SHGC4-1567;STS-R60782 FLJ20896;FLJ41791;GRAF2;PS-GAP;PSGAP GTPase regulator associated with focal adhesion kinase 2;OTTHUMP00000220267;graf-related protein 2;rho GTPase-activating protein 10;rho-type GTPase-activating protein 10 protein-coding ENSG00000071205 HGNC:26099 07949 609746 VALIDATED 7243277 ARHGAP19-SLIT1 ARHGAP19-SLIT1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring Rho GTPase activating protein 19 (ARHGAP19) and slit homolog 1 (SLIT1) genes on chromosome 10. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 10 10 q 98912799 99052430 - 97153042 97292673 - 6480464 20967262 100533184 C9IZI4 AA431797;ABBA01021814;ABBA01021815;ABBA01021816;ABBA01021817;ABBA01021818;ABBA01021819;AL359385;AL512424;AMYH02023603;AMYH02023604;AMYH02023605;AMYH02023606;AY336750;NR_037909 AAR02412 Hs.80305 1683271 RH92281 ncrna HGNC:48348 VALIDATED 1351019 ARHGAP19 Rho GTPase activating protein 19 Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008] 10 10 10 q24.1 92723490 92790901 - 98981930 99052430 - 97222173 97292673 - 6480464 12477932;12693554;14702039;15164054;15489334;16344560;16385451;16713569;17454002;19322201;21139048;22939629;23503679;8619474;9110174 84986 Q14CB8;R4GMS4;R4GNI4 AA427792;ABBA01021814;ABBA01021815;ABBA01021816;ABBA01021817;ABBA01021818;AK074122;AK090447;AK093316;AK093441;AK303055;AL359385;AMYH02023603;AMYH02023604;AMYH02023605;AMYH02023606;BC007848;BC082250;BC103749;BC113888;BC114490;BI830638;BX648189;BX648194;CD743029;CH471066;CR749412;DB069205;DQ338460;NM_001204300;NM_001256423;NM_032900;U79256 AAI13889;AAI14491;ABC69298;BAB84948;BAC03428;BAC04130;BAC04165;BAG64173;CAH18254;EAW49952;EAW49953;EAW49954;EAW49955;NP_001191229;NP_001243352;NP_116289;Q14CB8 Hs.80305 1646108;1698392;2113088;2219004 ARHGAP19__4358;D10S2453;RH102738;STS-F10974 DKFZp313K217;MGC138804;MGC138805;MGC14258 OTTHUMP00000020188;OTTHUMP00000020189;putative RhoGAP protein;rho GTPase-activating protein 19;rho-type GTPase-activating protein 19 APPROVED protein-coding ENSG00000213390 HGNC:23724 12475 611587 VALIDATED 1348610 ARHGAP15 Rho GTPase activating protein 15 RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).[supplied by OMIM, Mar 2008] 2 2 2 q22.2-q22.3 137599271 138238118 + 143886899 144525921 + 143129330 143768352 + 6480464;8554872 11042152;12477932;12650940;15342556;15459234;15761153;18482256;18541383;19197348;20379614;20468071;21297076;22505724;23455924;23760270;24816145;8125298 55843 B8ZZK0;H7BZM0;Q53QZ3 ABBA01028062;ABBA01028063;ABBA01028064;ABBA01028065;ABBA01028066;ABBA01028067;ABBA01028068;ABBA01028069;ABBA01028070;AC013437;AC079584;AC079793;AC092652;AC096558;AC098857;AC109639;AF212222;AF217507;AF217522;AK226014;AK303490;AK308219;AMYH02004913;AMYH02004914;AMYH02004915;AMYH02004916;AY219338;BC016701;BC038976;BP299206;CH471058;NM_018460;XM_005263714;XM_006712632 AAF67618;AAF67633;AAF87324;AAH16701;AAH38976;AAO34684;AAX82009;AAX93158;AAX93160;AAX93245;AAY14811;AAY24215;BAG64525;EAX11587;EAX11588;EAX11589;EAX11590;NP_060930;Q53QZ3;XP_005263771;XP_006712695 Hs.171011 1336624;1647184;1661231;1681145;1682447;1712975;1713533;1724035;1750501;1753591;1777094;1858235;1956008;2114820;2162961;2169742;2183522 D2S122;D2S1308;D2S1738;REN48866;RH119028;RH120252;RH120577;RH35973;RH79251;RH92102;RH93106;SHGC-107502;SHGC-111811;SHGC-23090;SHGC-23101;SHGC-64284;STS-AA040807 BM046 OTTHUMP00000162669;rho GTPase-activating protein 15;rho-type GTPase-activating protein 15 APPROVED protein-coding ENSG00000075884 HGNC:21030 06447 610578 VALIDATED 1312852 ARHGAP18 Rho GTPase activating protein 18 ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010] 6 6 6 q22.33 130644627 130777755 - 129897290 130031370 - 129576145 129710225 - 1580863;5686816;6480464;8554872 19065146 12477932;14574404;14702039;15231747;15489334;16712791;18987618;20664062;21865595;22808956;23648065;24144296;24347629 93663 Q8N392 AB053293;ABBA01025911;ABBA01025912;AI337078;AK002195;AK098594;AK307796;AL450310;AL834511;AMYH02014470;AMYH02014471;AY643712;BC017223;BC039611;BC052295;BC062417;BC073143;BC101708;BC107416;BC111940;BC143531;BM557223;CB149638;CH471051;NM_033515;XM_005267212;XM_005267213;Z97352 AAH17223;AAH39611;AAH62417;AAI01709;AAI07417;AAI11941;AAT64914;BAB61887;CAD39167;EAW48076;EAW48077;EAW48078;NP_277050;Q8N392;XP_005267269;XP_005267270 Hs.486458 1339019;1650246;1703596;1709616;1709770;1717969;1785824;2132339;2218244 ARHGAP18_4357;D6S1470;D6S1620;RH122811;SHGC-106102;SHGC-64754;SHGC-84700;SHGC-85169;STS-N22224 FLJ25728;MGC126757;MGC138145;bA307O14.2 MacGAP;OTTHUMP00000017190;SENEX;rho GTPase-activating protein 18;rho-type GTPase-activating protein 18 APPROVED protein-coding ENSG00000146376 HGNC:21035 12474 613351 VALIDATED 6480346 ARHGAP22-IT1 ARHGAP22 intronic transcript 1 (non-protein coding) q11.22 14702039 100689073 AK093071;CR737578 Hs.667964;Hs.738880 ncrna HGNC:42944 1320676 ARHGAP12 Rho GTPase activating protein 12 This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 10 10 10 p11.22 31860349 31982898 - 32094326 32217804 - 31805398 31928876 - 6480464;8554872 11854031;12297274;12477932;14702039;15144186;15345747;15489334;15492870;16344560;16385451;18504429;18984674;21706016;21906983;23602568;8619474;8889548;9110174 94134 H0Y5D8;Q1RLN5;Q8IWW6 ABBA01033395;ABBA01033396;AF131804;AK000744;AK001833;AK025438;AK091182;AK127611;AK315066;AL137485;AL390715;AL834250;AMYH02022576;AY033594;AY033595;BC051811;BC094719;BC115362;BC115363;BM693575;BX641115;CH471072;CR936681;DB062438;NM_001270695;NM_001270696;NM_001270697;NM_001270698;NM_001270699;NM_018287;XM_005252644;XM_006717540;XM_006717541 AAH51811;AAH94719;AAI15363;AAI15364;AAK52311;AAK52312;BAA91932;BAB15131;BAG52300;CAB70766;CAD38926;CAE46053;EAW85979;EAW85980;EAW85981;EAW85982;EAW85983;EAW85984;EAW85985;NP_001257624;NP_001257625;NP_001257626;NP_001257627;NP_001257628;NP_060757;Q8IWW6;XP_005252701;XP_006717603;XP_006717604 Hs.499264;Hs.741991 1648932;1685730;1695756;1850175;2123813;2218242 ARHGAP12_4356;D10S2484;RH27478;RH44894;SHGC-64280;SHGC-82680 DKFZp779N2050;FLJ10971;FLJ20737;FLJ21785;FLJ45709 OTTHUMP00000019407;OTTHUMP00000019409;OTTHUMP00000019410;rho GTPase-activating protein 12;rho-type GTPase-activating protein 12 APPROVED protein-coding ENSG00000165322 HGNC:16348 06446 610577 REVIEWED 1343283 ARHGAP17 Rho GTPase activating protein 17 RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004] 16 16 16 p12.1 23711720 23807687 - 24930710 25026695 - 24919384 25015601 - 633422;1580863;6480464 10967100 11181995;11285285;11431473;12477932;14702039;15489334;16678097;17620599;18654987;19531213;20379614;20936779;21832049;23182705;23383273;24816145 55114 C9IZD3;I3L1S9;I3L3P1;I3L460;I3L4P0;I3L4P6;I3L4Y5;Q68EM7 ABBA01017107;ABBA01017108;ABBA01017109;ABBA01017110;ABBA01017111;AC008731;AC010545;AF113218;AF163257;AF173885;AF258560;AF258580;AJ306731;AJ306732;AK001170;AK023281;AK027567;AK094886;AK125358;AK291691;AK301055;AK301500;AL833975;AMYH02031732;AMYH02031733;BC001241;BC080195;BI906519;BU187683;CH471145;NM_001006634;NM_018054;XM_005255413;XM_005255414;XM_006721057;XM_006721058;XM_006721059;XM_006721060 AAG23763;AAG23783;AAG39289;AAH01241;AAH80195;AAQ13586;AAQ13632;BAB14506;BAB55203;BAC86144;BAF84380;BAG62665;BAG63011;CAC37948;CAC37949;CAD38819;EAW55778;EAW55779;EAW55780;NP_001006635;NP_060524;Q68EM7;XP_005255470;XP_005255471;XP_006721120;XP_006721121;XP_006721122;XP_006721123 Hs.373793 1663010;1691024;1772907;5022651;5109663 D11S2921;D7S2067E;RH64964;RH70317;STS-W92992 DKFZp564A1363;FLJ37567;FLJ43368;MGC87805;MST066;MST110;MSTP038;MSTP066;MSTP110;PP367;PP4534;RICH-1;RICH1;RICH1B;WBP15 NADRIN;RhoGAP interacting with CIP4 homologs 1;neuron-associated developmentally regulated protein;rho GTPase-activating protein 17;rho-type GTPase-activating protein 17;rhoGAP interacting with CIP4 homologs protein 1 APPROVED protein-coding ENSG00000140750 HGNC:18239 12207 608293 VALIDATED 7491995 ARHGAP23P1 Rho GTPase activating protein 23 pseudogene 1 16 p11.2 33905444 33936913 - 102577425 AC140658;AMYH02031940;NG_033847 pseudo HGNC:45039 INFERRED 1316310 ARHGAP22 Rho GTPase activating protein 22 This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 q11.22 43239986 43398967 - 49654068 49864310 - 48446025 48656265 - 737633;1580863;6480464;8554872 12477932 14702039;15254788;15489334;16344560;16385451;20379614;20585324;21078624;21310492;21926414;21969604;22952583;23593239;8619474 58504 A6NHM7;A6NJ38;D6R9V6;D6RBJ8;Q7Z5H3 ABBA01047222;ABBA01047223;ABBA01047224;ABBA01047225;ABBA01047226;ABBA01047227;AC016397;AC016399;AC068898;AK055037;AK055937;AK127586;AK293579;AMYH02022974;AMYH02022975;AMYH02022976;AMYH02022977;AMYH02022978;AMYH02022979;AY324801;BC047096;BC126444;BC136319;CH471187;DB338179;DC391765;EF560749;KF455234;KF510336;KF510338;NM_001256024;NM_001256025;NM_001256026;NM_021226;NR_045675;U90908;XM_005270014;XM_006717934 AAB51057;AAI26445;AAI36320;AAP85632;ABQ59059;ADR83111;BAC87044;BAG51453;BAG57049;EAW93125;EAW93126;EAW93127;NP_001242953;NP_001242954;NP_001242955;NP_067049;Q7Z5H3;XP_005270071;XP_006717997 Hs.655672 1782214;2176351 SHGC-173293;WI-15769 RhoGAP2;RhoGap22 OTTHUMP00000019561;OTTHUMP00000217290;OTTHUMP00000217291;OTTHUMP00000217292;OTTHUMP00000217296;rho GTPase-activating protein 22;rho-type GTPase-activating protein 22 APPROVED protein-coding ENSG00000128805 HGNC:30320 12476 610585 VALIDATED 1350363 ARHGAP20 Rho GTPase activating protein 20 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 11 11 11 q23.1 107601250 107736673 - 110447759 110583912 - 110577035 110713189 - 6480464;8554872 10718198;12477932;14532992;15234003;15489334;15543602;16014623;20379614;20811636;21500311;22044751;23291589;23535033 57569 Q9P2F6 AB037812;ABBA01039829;ABBA01039830;ABBA01039831;AI936560;AK292290;AK307602;AMYH02025567;AMYH02025568;AP001883;AP001980;AP003460;AY496263;AY496264;AY496265;AY496266;AY496267;BC039340;BQ003257;CH471065;EF444953;KF511116;NM_001258415;NM_001258416;NM_001258417;NM_001258418;NM_020809;XM_005271628;XM_006718893 AAH39340;AAS45466;AAS45467;AAS45468;AAS45469;AAS45470;ACA05945;ACA05946;ADZ15624;BAA92629;BAF84979;EAW67133;EAW67134;NP_001245344;NP_001245345;NP_001245346;NP_001245347;NP_065860;Q9P2F6;XP_005271685;XP_006718956 Hs.6136 1656354;1682800;1704564;1767985;1771749;2152141;2168376 D11S4275;RH18243;RH68495;SHGC-83088;WI-13375;WI-18672;WIAF-1688 KIAA1391 OTTHUMP00000233638;OTTHUMP00000233639;OTTHUMP00000233640;OTTHUMP00000233641;OTTHUMP00000233642;RA and RhoGAP domain containing protein;RARHOGAP;rho GTPase activating protein 20 variant 2;rho GTPase-activating protein 20;rho-type GTPase-activating protein 20 protein-coding ENSG00000137727 HGNC:18357 10657 609568 VALIDATED 6480967 ARHGAP26-IT1 ARHGAP26 intronic transcript 1 (non-protein coding) 5 q31.3 143192345 143194166 + 100874372 ABBA01026364;AC004782;AI027230;AMYH02012375;XR_425917;XR_425918;XR_427793;XR_431934 Hs.666717 ncrna HGNC:41429 MODEL 1315415 ARHGAP24 Rho GTPase activating protein 24 ARHGAPs, such as ARHGAP24, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008] 4 4 4 q22.1 83686557 84212966 + 86068860 86923823 + 85147742 86002670 + 1580863;6480464;8554872 11230166;11256614;12477932;12601173;14702039;15254788;15302923;15489334;15611138;16344560;16862148;18029348;19144823;19293932;20062060;20062063;20379614;20670164;21823009;21832049;21911940;21926999;23097497;23139255;23251661;23382691;24526684;9847074 83478 D6RBC2;D6RCP5;D6RHH1;Q8N264 ABBA01063489;ABBA01063490;ABBA01063491;ABBA01063492;ABBA01063493;ABBA01063494;ABBA01063495;AC093877;AC097108;AC097488;AC098870;AC104059;AC104810;AC115620;AC131947;AC139716;AK091196;AK098193;AK130576;AK307423;AK308019;AL136646;AMYH02009640;AMYH02009641;AMYH02009642;AMYH02009643;AMYH02009644;AMYH02009645;AMYH02009646;AMYH02009647;AMYH02009648;AMYH02009649;AMYH02009650;AMYH02009651;AY211925;BC047918;BC098580;CH471057;DA546029;DA815489;DB109452;NM_001025616;NM_001042669;NM_001287805;NM_031305;XM_005263263 AAH47918;AAH98580;AAO65178;BAC03606;BAC85384;BAG53589;CAB66581;EAX05959;EAX05960;EAX05961;NP_001020787;NP_001036134;NP_001274734;NP_112595;Q8N264;XP_005263320 Hs.444229 1336699;1657656;1666474;1666707;1671858;1672628;1690420;1696076;1711270;1713891;1759973;2122886;2128655;2132567;2154948;2159772 D4S2340;D4S2356;D4S2409;D4S785;G09481;RH103371;RH119376;SHGC-112308;SHGC-37426;SHGC-50463;SHGC-50498;SHGC-50682;SHGC-58303;SHGC-79102;SHGC-89267;STS-N20263 DKFZp564B1162;FLJ33877;RC-GAP72;RCGAP72;p73;p73RhoGAP FILGAP;OTTHUMP00000160982;OTTHUMP00000160983;OTTHUMP00000218766;OTTHUMP00000218767;RAC1- and CDC42-specific GTPase-activating protein of 72 kDa;filamin-A-associated RhoGAP;rho GTPase-activating protein 24;rho-type GTPase-activating protein 24;rhoGAP of 73 kDa;sarcoma antigen NY-SAR-88 APPROVED protein-coding ENSG00000138639 HGNC:25361 09804 610586 VALIDATED 1322263 ARHGAP21 Rho GTPase activating protein 21 ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008] 10 10 10 p12.1 24564446 24712895 - 24872538 25012597 - 24583609 24723668 - 6480464;8554872 10718198;11238453;12056806;12477932;14702039;15778465;15793564;16385451;17347647;17620599;19268501;20195357;21173159;22318733;22922005;23235160;7829101 57584 E7ESW5;F8W9U9;H0Y468;H0Y5T2;Q5JSD8;Q5T5U3 AB037845;ABBA01034447;ABBA01034448;AF480466;AK074589;AK090642;AK295649;AK297278;AK307604;AL355979;AL392104;AL834495;AMYH02022473;AMYH02022474;AMYH02022475;AMYH02022476;AV709499;AV709848;BC022931;BC118915;BI491305;BQ026288;BX537570;CH471072;NM_020824;XM_005252542;XM_005252543;XM_005252544;XM_005252546;XM_005252547;XM_006717487;XM_006717488;XM_006717489;XR_242701 AAH22931;AAI18916;AAM22955;BAA92662;BAG59749;BAH12139;CAD39153;CAD97787;EAW86122;NP_065875;Q5T5U3;XP_005252599;XP_005252600;XP_005252601;XP_005252603;XP_005252604;XP_006717550;XP_006717551;XP_006717552 Hs.524195 1675395;1683607;1781980;2153569;2183526;5021996;5022450;5105769;5124137 D10S275;D10Ulb1;RH37461;RH45030;RH65067;RH66951;RH68400;SHGC-144197;SHGC-146218 ARHGAP10;DKFZp761L0424;FLJ33323;FLJ90108 OTTHUMP00000019319;OTTHUMP00000019321;Rho-GTPase activating protein 10;rho GTPase-activating protein 10;rho GTPase-activating protein 21;rho-type GTPase-activating protein 21 APPROVED protein-coding ENSG00000107863 HGNC:23725 06445 609870 VALIDATED 1351716 ARHGAP25 Rho GTPase activating protein 25 ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008] 2 2 2 p13.3 68812361 68904457 + 68961913 69053965 + 68734781 68826833 + 737633;1580863;6480464;8554872 12477932 15254788;15489334;19911011;21890473;24159190;7584044 9938 B7Z8K7;C9JB56;F8WAV9;F8WDF6;H7C4P1;P42331;V9HWC8 ABBA01075491;AC097495;AC105054;AC112700;AK290396;AK297056;AK297157;AK298669;AK303591;AK310742;AK311669;AMYH02004015;BC032222;BC039591;BX443252;CD695161;CH471053;D29642;EU794656;NM_001007231;NM_001166276;NM_001166277;NM_014882;XM_005264675;XM_005264676 AAH39591;AAY15074;AAY24006;ACJ13710;BAA06125;BAF83085;BAH12484;BAH12510;BAH12841;BAH13993;EAW99866;EAW99867;EAW99868;NP_001007232;NP_001159748;NP_001159749;NP_055697;P42331;XP_005264732;XP_005264733 Hs.531807 1684485;1686058;1787610;2131539;2155926;2218246 ARHGAP25_4361;D2S2611;RH17432;RH25288;RH91480;SHGC-155934 HEL-S-308;KAIA0053 OTTHUMP00000202079;OTTHUMP00000202080;OTTHUMP00000202081;OTTHUMP00000214416;OTTHUMP00000214419;OTTHUMP00000214420;OTTHUMP00000214421;epididymis secretory protein Li 308;rho GTPase-activating protein 25;rho-type GTPase-activating protein 25 APPROVED protein-coding ENSG00000163219 HGNC:28951 09805 610587 VALIDATED 1320244 ARHGAP23 Rho GTPase activating protein 23 The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008] 17 17 17 q12 33274219 33329461 + 36584720 36668628 + 38419286 38512392 + 6480464 10819331;12477932;15146197;15254754;16368877;16625196;17643375;19199708;21906983;21963094;23444366;23535730 57636 Q9P227 AB040934;ABBA01031919;ABBA01031920;ABBA01031921;ABBA01031922;AC115090;AC244153;BC039190;BM548592;BY795315;CN429246;CN429249;CN429251;CR746382;DN831435;EG328307;NM_001199417;R42869;XM_006721991;XM_006721992;XM_006721993;XM_006721994;XM_006725330;XM_006725331;XM_006725332;XM_006725333;XR_429908;XR_429909;XR_430785 BAA96025;NP_001186346;Q9P227;XP_006722054;XP_006722055;XP_006722056;XP_006722057;XP_006725393;XP_006725394;XP_006725395;XP_006725396 Hs.374446 1337023;1683431;1734408;2138310 A004B30;D17S1381E;D17S1836;RH91175 KIAA1501 OTTHUMP00000242673;rho GTPase-activating protein 23;rho-type GTPase-activating protein 23 APPROVED protein-coding ENSG00000275832 HGNC:29293 610590 VALIDATED 6481189 ARHGAP26-AS1 ARHGAP26 antisense RNA 1 5 5 142239169 142248475 - 142859604 142868910 - 100874239 ABBA01026366;AC008533;AMYH02012371;BC039527;HG498566;HG498567;HG498568;NR_046680 Hs.570896 AC008533.1 APPROVED ncrna ENSG00000226272 HGNC:40792 PREDICTED 6481080 ARHGAP31-AS1 ARHGAP31 antisense RNA 1 q13.33 16344560 100874246 AC092981;DA269443;NR_046748 Hs.607097 APPROVED ncrna HGNC:41235 VALIDATED 1346833 ARHGAP27 Rho GTPase activating protein 27 This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013] 17 17 17 q21.31 40180571 40212381 - 43471268 43510282 - 45393902 45432991 - 1302833;6480464;8554872 15147912 11181995;12107413;12297274;12477932;14702039;15492870;20070850;21890473 201176 E9PIR1;E9PK18;E9PNT2;E9PNX6;Q6ZUM4;Q8N2Y9 ABBA01028314;ABBA01028315;ABBA01028316;AC003070;AC091132;AC217778;AC244207;AF258593;AK092891;AK125535;AK290650;AK300880;BC029634;BC067345;BC101388;BC101389;BC101390;BC101391;BX386761;CD675139;CH471178;NM_001282290;NM_174919;NM_199282;XM_005257127;XM_005257128;XM_005275641;XM_005275642;XM_006721745;XM_006721746;XM_006721747;XM_006721748;XM_006721749;XM_006721750;XM_006725259;XM_006725260;XM_006725261;XM_006725262;XM_006725608;XM_006725609;XM_006725610;XM_006725611;XM_006725612;XM_006725613;XM_006725614;XM_006725615;XR_429873;XR_429874;XR_429875;XR_429876;XR_430745;XR_430746;XR_430747;XR_430898;XR_430899;XR_430900;XR_430901 AAG23796;AAH29634;AAH67345;AAI01389;AAI01390;AAI01391;AAI01392;BAC86196;BAF83339;BAH13366;EAW51527;EAW51528;NP_001269219;NP_777579;NP_954976;Q6ZUM4;XP_005257184;XP_005257185;XP_005275698;XP_005275699;XP_006721808;XP_006721809;XP_006721810;XP_006721811;XP_006721812;XP_006721813;XP_006725322;XP_006725323;XP_006725324;XP_006725325;XP_006725671;XP_006725672;XP_006725673;XP_006725674;XP_006725675;XP_006725676;XP_006725677;XP_006725678 Hs.205326 1337603;1660562;1775837;2182292;5020948;5037552;5109281;7185410 D17S1406E;D17S810;D1S1425;D8S2279;G35510;RH78841;SGC30868 CAMGAP1;FLJ35572;FLJ43547;FLJ76025;MGC120624;MGC78393;PP905;SH3D20;SH3P20 CIN85-associated multi-domain-containing Rho GTPase-activating protein 1;OTTHUMP00000234646;OTTHUMP00000234647;OTTHUMP00000234648;OTTHUMP00000234651;OTTHUMP00000234652;SH3 domain containing 20;SH3 domain-containing protein 20;rho GTPase-activating protein 27;rho-type GTPase-activating protein 27 APPROVED protein-coding ENSG00000159314 HGNC:31813 12477 610591 VALIDATED 1606326 ARHGAP29 Rho GTPase activating protein 29 ENCODES a protein that exhibits PDZ domain binding; INVOLVED IN intracellular signal transduction (inferred); positive regulation of Rho GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); intracellular (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 1 1 1 p22.1 92888168 92957024 - 94634463 94713251 - 94168907 94237751 - 6480464;8554872 12477932;14749388;15752761;16189514;17488656;19343720;19911011;21139048;21502573;21906983;23000965;23008150;23400010;23455924;23798437;7566098;8889548;9305890 9411 F8VWZ8;Q52LW3 AA326126;AB208873;ABBA01045512;ABBA01045513;ABBA01045514;AK307733;AK310491;AL162735;AL833445;AMYH02001507;AW295796;BC022483;BC037337;BC067839;BC093741;BC093767;BF115799;BI548487;BU507990;BX508890;CA454270;CB852768;CH471097;NM_004815;U90920;XM_006711048 AAB81012;AAH22483;AAH67839;AAH93741;AAH93767;BAD92110;EAW73051;EAW73052;NP_004806;Q52LW3;XP_006711111 Hs.483238 1652685;1665014;1734522;1776558;1857145;2108339;2137302;2149897;2151163;2162713;2162715;2182717;5022578;5093466 A002A12;A009P20;D1S1423;D1S1765E;G19844;G32735;PARG1_7946;RH47971;RH64646;RH64657;RH64671;SHGC-32946;SHGC-75174;SHGC-75176 PARG1;RP11-255E17.1 OTTHUMP00000012383;OTTHUMP00000243160;PTPL1-associated RhoGAP 1 (PARG1);PTPL1-associated RhoGAP protein 1;rho GTPase-activating protein 29;rho-type GTPase-activating protein 29 protein-coding HGNC:30207 06674 610496 VALIDATED 1347841 ARHGAP28 Rho GTPase activating protein 28 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); FOUND IN cell junction; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1 18 18 18 p11.31 6719871 6801101 + 6729717 6915715 + 6729718 6915716 + 737633;6480464 12477932 10718198;14702039;15489334;16177791;18029348;23251661 79822 B4DXL2;E9PL26;E9PMX7;J3KT69;J3KTC0;J3QKM0;J3QLR3;J3QRC2;Q9P2N2 AB037735;ABBA01049899;ABBA01049900;AI435330;AK001174;AK024298;AK130670;AK289791;AK302026;AK308259;AMYH02034259;AP005205;AP005210;BC033668;BC065274;BG720645;BX648684;CH471113;DC401238;NM_001010000;XM_005258144;XM_005258145;XM_005258146 AAH33668;AAH65274;BAA91533;BAA92552;BAF82480;BAG63424;EAX01633;EAX01634;EAX01635;NP_001010000;Q9P2N2;XP_005258201;XP_005258202;XP_005258203 Hs.183114 1680216;1686923;1689011;1699534;1751907;2114130;5022578;5109281;5120437 AB072742;D1S1423;D1S1425;GDB:315881;RH103364;RH92850;RH93818;RH93927;SHGC-105816 DKFZp686A2038;FLJ10312;FLJ27160 OTTHUMP00000236529;OTTHUMP00000236530;OTTHUMP00000236531;OTTHUMP00000236532;rho GTPase-activating protein 28;rho-type GTPase-activating protein 28 protein-coding ENSG00000088756 HGNC:25509 10961 610592 VALIDATED 1604190 ARHGAP30 Rho GTPase activating protein 30 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular membrane-bounded organelle; INTERACTS WITH cadmium atom; curcumin; lead(0) 1 1 1 q23.3 134083996 134106943 - 161016731 161039760 - 161046942 161069970 - 6480464;8554872 12477932;15144186;15489334;16344560;16710414;21565175;23128233;24816145 257106 E9PAN4;E9PLA4;E9PLT5;Q7Z6I6 AA835836;ABBA01016600;ABBA01016601;ABBA01016602;AK126116;AK126163;AK160366;AL591806;AL832852;AL833477;AMYH02002031;BC025732;BC043387;BC053688;BX537846;CH471121;DA814767;NM_001025598;NM_001287600;NM_001287602;NM_181720;XM_005245070;XM_005245071;XM_005245073 AAH43387;AAH53688;BAC86447;BAD18709;CAD97855;EAW52667;EAW52668;EAW52669;EAW52670;EAW52671;EAW52672;EAW52673;EAW52674;NP_001020769;NP_001274529;NP_001274531;NP_859071;Q7Z6I6;XP_005245127;XP_005245128;XP_005245130 Hs.389374 1730167;2129450;2177510;7185482 D1S273E;RH36021;STS-W72330 FLJ00267;FLJ44128;RP11-544M22.6 OTTHUMP00000029703;OTTHUMP00000029705;OTTHUMP00000228976;rho GTPase-activating protein 30;rho-type GTPase-activating protein 30 protein-coding ENSG00000186517 HGNC:27414 11250 614264 VALIDATED 1605412 ARHGAP32 Rho GTPase activating protein 32 RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008] 11 11 11 q24.3 126003454 126230572 - 128834955 129062093 - 128965060 129192198 - 6480464;8554872 10737800;12421765;12446789;12454018;12477392;12477932;12531901;12788081;12819203;12857875;14702039;15778465;16713569;17620599;17663722;18187620;18451111;18477472;18577589;20308060;20936779;22530067;23226367;23319000;9872452 9743 A7KAX9;E9PRH3;G3V174;Q86T64 AB018255;AB079856;AB088416;ABBA01023015;ABBA01023016;ABBA01023017;AK001257;AK023715;AK025237;AL833062;AMYH02025767;AMYH02025768;AMYH02025769;AMYH02025770;AP000747;AP000751;AP002886;AY194287;BC000277;BC023644;BC051236;BC054488;BC065371;BC104898;BC113429;BQ319051;CH471065;CK823137;EF127492;KF455566;NM_001142685;NM_014715;XM_005271736;XM_006718947 A7KAX9;AAH00277;AAH51236;AAH65371;AAI04899;AAI13430;AAO43677;ABO33171;BAA34432;BAC24802;BAM34446;CAD89974;EAW67732;EAW67733;EAW67734;EAW67735;EAW67736;EAW67737;EAW67738;EAW67739;EAW67740;EAW67741;EAW67742;NP_001136157;NP_055530;XP_005271793;XP_006719010 Hs.440379 1654475;1668170;1677490;1698878;1707790;1737255;2127872;2157956;5110027 D11S2097;D11S2896;D11S3120;D11S4354;G27495;RH103006;SHGC-82118;STS-M79191;WI-11842 GC-GAP;GRIT;KIAA0712;MGC1892;PX-RICS;RICS;p200RhoGAP;p250GAP GAB-associated CDC42;GAB-associated Cdc42/Rac GTPase-activating protein;GTPase regulator interacting with TrkA;GTPase-activating protein for Cdc42 and Rac1;OTTHUMP00000230948;OTTHUMP00000230996;OTTHUMP00000230997;OTTHUMP00000230998;RhoGAP involved in the -catenin-N-cadherin and NMDA receptor signaling;brain-specific Rho GTP-ase-activating protein;brain-specific Rho GTPase-activating protein;rac GTPase activating protein;rho GTPase-activating protein 32;rho-type GTPase-activating protein 32;rho/Cdc42/Rac GTPase-activating protein RICS;rhoGAP involved in the beta-catenin-N-cadherin and NMDA receptor signaling APPROVED protein-coding ENSG00000134909 HGNC:17399 12257 608541 VALIDATED 1318751 ARHGAP33 Rho GTPase activating protein 33 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] 19 19 19 q13.12 32979892 32993199 + 36266417 36279724 + 35775515 35788822 + 1580863;8554872 11441184;11485546;11736640;12297274;12461558;12477932;12773384;14702039;15057824;15489334;16777849;17664338;18660489;20873783;20936779 115703 A1A5D2;K7EK14;K7EMC2;K7EQI6;O14559 ABBA01018765;AC002398;AK096338;AK127255;AL137579;AMYH02035990;AY044864;BC014084;BC128586;HI574102;NM_001172630;NM_052948;XM_005258487;XM_005258488;XM_005258489;XM_006722999;XM_006723000;XM_006723001;XM_006723002;XM_006723003;XR_430187 AAB81197;AAB81198;AAH14084;AAI28587;AAK97795;BAC86902;BAG53264;CAB70821;CBX47540;NP_001166101;NP_443180;O14559;XP_005258544;XP_005258545;XP_005258546;XP_006723062;XP_006723063;XP_006723064;XP_006723065;XP_006723066 Hs.515364 1675583;1686508;1701628;2107645;2166105;2191661 MARC_4163-4164:996679454:1;RH104456;RH46149;RH75149;RH91709;SNX26__6878 FLJ39019;NOMA-GAP;SNX26;TCGAP neurite outgrowth multiadaptor RhoGAP protein;rho GTPase-activating protein 33;rho-type GTPase-activating protein 33;sorting nexin 26;sorting nexin-26;tc10/CDC42 GTPase-activating protein APPROVED protein-coding ENSG00000004777 HGNC:23085 15415 614902 REVIEWED 1606256 ARHGAP31 Rho GTPase activating protein 31 This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008] 3 3 3 q13.33 117421692 117546790 + 119013220 119138323 + 119294289 119419476 + 6480464;7240710;8554872;8699517 10574462;11744688;12477932;12819203;15761153;16519628;17158447;18539136;19706030;20190752;20936779;21565291;21774070;22518840;22907917;23894747;8889548;9786927 57514 C9J652;Q2M1Z3 AB033030;ABBA01061585;ABBA01061586;AC092981;AK026689;AK293726;AMYH02007498;AMYH02007499;BC112163;BC112165;BM970175;CH471052;KF457672;NG_007665;NM_020754;XM_005247671;XM_006713714 AAI12164;AAI12166;ADR83297;BAA86518;BAH11580;EAW79573;EAW79574;NP_065805;Q2M1Z3;XP_005247728;XP_006713777 Hs.668218 1685231;1708644;1757461;1760183;2138434;2163536;2218352 CDGAP_4536;RH99056;SHGC-132468;SHGC-144836;SHGC-32480;SHGC-7110;SHGC-85123 AOS1;CDGAP;KIAA1204;MGC138368;MGC138370 Cdc42 GTPase-activating protein;OTTHUMP00000215062;rho GTPase-activating protein 31 APPROVED protein-coding ENSG00000031081 HGNC:29216 16697 100300;610911 REVIEWED 1603059 ARHGAP35 Rho GTPase activating protein 35 The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 44226291 44312689 + 47421824 47508334 + 46918676 47005077 + 6480464;6484113 11054565;11214970;11309200;12168954;12441060;12477932;14702039;15102857;15302935;15592455;16147992;16188938;16210701;16308318;16341674;16513268;16751776;17081983;17562701;18282590;18567581;18642445;18829532;18922893;1894621;19086053;19293150;19393245;19435801;20530197;20534586;20617170;20634891;20675588;21127047;21139048;21906983;22357615;22807448;23178654;23552690;24043274;24403595;8189062;8419471;8702520;9034330;9548756;9819392 2909 A2RRE5;Q9NRY4 AB051509;ABBA01040995;ABBA01040996;ABBA01040997;ABBA01040998;AC008755;AC008895;AF159851;AK096123;AK097314;AK298356;AL831914;AMYH02036240;AMYH02036241;AMYH02036242;BC003514;BC065491;BC131565;BC150257;BE871213;BM855708;CA429690;CH471126;CX163309;M73077;NM_004491 AAA58618;AAF80386;AAI31566;AAI50258;BAB21813;BAG60600;EAW57450;EAW57451;EAW57452;EAW57453;NP_004482;Q9NRY4 Hs.509447 1337079;1337680;1662366;1685041;1771682;2119507;2125050;2152575;2167876;5107703;5111275;7187464 D18S1154;D19S540;D19S851;RH12331;RH15918;RH67855;RH68444;RH77962;RH79947;STS-N25336;WI-9140 GRF-1;GRLF1;KIAA1722;MGC10745;P190-A;P190A;p190ARhoGAP;p190RhoGAP glucocorticoid receptor DNA binding factor 1;glucocorticoid receptor DNA-binding factor 1;glucocorticoid receptor repression factor 1;rho GAP p190A;rho GTPase-activating protein 35 APPROVED protein-coding ENSG00000160007 HGNC:4591 05592 605277 REVIEWED 1322105 ARHGAP26 Rho GTPase activating protein 26 Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 5 5 5 q31 138231606 138689843 + 142149881 142608572 + 142770378 143229007 + 1599311;1580863;6480464;7240710;8554872;8699517 10908648 10737800;11432776;11998687;12477932;14702039;15717329;18759275;18929667;18954304;20374274;20379614;20533268;20602808;20704716;21074269;21622574;21890473;21906983;21963094;21965292;23000965;23602568;24067935;7836419;8649427;9525907;9582072;9734811;9858476 23092 C9J6V4;F8W8N5;H0Y4P9;H0Y835;H7BZE1;H7BZZ0;H7C1J1;H7C205;H7C3P8;Q9UNA1 AB014521;ABBA01026364;ABBA01026365;ABBA01026366;ABBA01026367;AC004782;AC005348;AC005574;AC008533;AC012630;AF196313;AF508552;AK092488;AK095220;AK123519;AK124521;AK298708;AMYH02012371;AMYH02012372;AMYH02012373;AMYH02012374;AMYH02012375;BC021059;BC068555;BF085236;CH471062;HM037040;KC877124;KC877138;NG_016711;NM_001135608;NM_015071;XM_005268398;XM_005268399;XM_005268400;XM_005268402;XM_005268403;XM_006714768;XM_006714769;XM_006714770;XM_006714771;XM_006714772;XM_006714773;XM_006714774;Y10388 AAG30729;AAH68555;AAM61871;ADI49692;BAA31596;BAG53008;BAG60864;CAA71414;EAW61876;EAW61877;NP_001129080;NP_055886;Q9UNA1;XP_005268455;XP_005268456;XP_005268457;XP_005268459;XP_005268460;XP_006714831;XP_006714832;XP_006714833;XP_006714834;XP_006714835;XP_006714836;XP_006714837 Hs.654668 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REN24740;REN24741;REN24742;REN24743;REN24744;REN24745;REN24746;REN24747;REN24748;REN24749;REN24750;REN24751;REN24752;REN24753;REN24754;REN24755;REN24756;REN24757;REN24758;REN24759;REN24760;REN24761;REN24762;REN24763;REN24764;REN24765;REN24766;REN24767;REN24768;REN24769;REN24770;REN24771;REN24772;REN24773;REN24774;REN24775;REN24776;REN24777;REN24778;REN24779;REN24780;REN24781;REN24782;REN24783;REN24784;REN24785;REN24786;REN24787;REN24788;REN24789;REN24790;REN24791;REN24792;REN24793;REN24794;REN24795;REN24796;REN24797;REN24798;REN24799;REN24800;REN24801;REN24802;REN24803;REN24804;REN24805;REN24806;REN24807;REN24808;REN24809;REN24810;REN24811;REN24812;REN24813;REN24814;REN24815;REN24816;REN24817;REN24818;REN24819;REN24820;REN24821;REN24822;REN24823;REN24824;REN24825;REN24826;REN24827;REN24828;REN24829;REN24830;REN24831;REN24832;REN24833;REN24834;REN24835;REN24836;REN24837;REN24838;REN24839;REN24840;REN24841;REN24842;REN24843;REN24844;REN24845;REN24846;REN24847;REN24848;REN24849;REN24850;REN24851;REN24852;REN24853;REN24854;REN24855;REN24856;REN24857;REN24858;REN24859;REN24860;REN24861;REN24862;REN24863;REN24864;REN24865;REN24866;REN24867;REN24868;REN24869;REN24870;REN24871;REN24872;REN24873;REN24874;REN24875;REN24876;REN24877;REN24878;REN24879;REN24880;REN24881;REN24882;REN24883;REN24884;REN24885;REN24886;REN24887;REN24888;REN24889;REN24890;REN24891;REN24892;REN24893;REN24894;REN24895;REN24896;REN24897;REN24898;REN24899;REN24900;REN24901;REN24902;REN24903;REN24904;REN24905;REN24906;REN24907;REN24908;REN24909;REN24910;REN24911;REN24912;REN24913;REN24914;REN24915;REN24916;REN24917;REN24918;REN24919;REN24920;REN24921;REN24922;REN24923;REN24924;REN24925;REN24926;REN24927;REN24928;REN24929;REN24930;REN24931;REN24932;REN24933;REN24934;REN24935;REN24936;REN24937;REN24938;REN24939;REN24940;REN24941;REN24942;REN24943;REN24944;REN24945;REN24946;REN24947;REN24948;REN24949;REN24950;RH102698;RH119688;RH123521;RH15959;RH36178;RH68661;RH69744;RH76776;SHGC-104765;SHGC-145147;SHGC-32370;SHGC-35009;SHGC-52704;STS-F09886;WI-13339;WI-13649;stSG622983;stSG622985;stSG622987;stSG622989;stSG622990;stSG622991;stSG622992;stSG622993;stSG622994;stSG622995;stSG622996;stSG622997;stSG622998;stSG622999;stSG623000;stSG623001;stSG623002;stSG623003;stSG623004;stSG623005;stSG623006;stSG623007;stSG623008;stSG623009;stSG623010;stSG623011;stSG623012;stSG623013;stSG623014;stSG623015;stSG623016;stSG623017;stSG623018;stSG623019;stSG623020;stSG623021;stSG623022;stSG623023;stSG623024;stSG623025;stSG623026;stSG623027;stSG623028;stSG623029;stSG623030;stSG623031;stSG623032;stSG623033;stSG623034;stSG623035;stSG623036;stSG623037;stSG623038;stSG623039;stSG623040;stSG623041;stSG623042;stSG623043;stSG623044;stSG623045;stSG623046;stSG623047;stSG623048;stSG623049;stSG623050;stSG623051;stSG623052;stSG623053;stSG623054;stSG623055;stSG623056;stSG623057;stSG623058;stSG623059;stSG623060;stSG623061;stSG623062;stSG623063;stSG623064;stSG623065;stSG623066;stSG623067;stSG623068;stSG623069;stSG623070;stSG623071;stSG623072;stSG623073;stSG623074;stSG623075;stSG623076;stSG623077;stSG623078;stSG623079;stSG623080;stSG623081;stSG623082;stSG623084;stSG623085;stSG623086;stSG623087;stSG623088;stSG623089;stSG623090;stSG623091;stSG623092;stSG623093;stSG623094;stSG623095;stSG623096;stSG623097;stSG623098;stSG623099;stSG623100;stSG623101;stSG623102;stSG623103;stSG623104;stSG623105;stSG623106;stSG623107;stSG623108;stSG623109;stSG623110;stSG623111;stSG623112;stSG623113;stSG623114;stSG623115;stSG623116;stSG623117;stSG623118;stSG623119;stSG623120;stSG623121;stSG623122;stSG623123;stSG623124;stSG623125;stSG623126;stSG623127;stSG623128;stSG623129;stSG623130;stSG623131;stSG623132;stSG623133;stSG623134;stSG623135;stSG623136;stSG623137;stSG623138;stSG623139;stSG623142;stSG623144;stSG623145;stSG623146;stSG623147;stSG623148;stSG623149;stSG623150;stSG623151;stSG623152;stSG623153;stSG623154;stSG623155;stSG623156;stSG623157;stSG623158;stSG623159;stSG623160;stSG623161;stSG623162;stSG623163;stSG623165;stSG623166;stSG623167;stSG623169;stSG623170;stSG623171;stSG623172;stSG623173;stSG623174;stSG623175;stSG623176;stSG623177;stSG623179;stSG623180;stSG623181;stSG623182;stSG623183 FLJ42530;GRAF;GRAF1;KIAA0621;OPHN1L;OPHN1L1 GTPase regulator associated with focal adhesion kinase pp125(FAK);OTTHUMP00000066032;OTTHUMP00000070148;oligophrenin-1-like protein;rho GTPase-activating protein 26;rho-type GTPase-activating protein 26 APPROVED protein-coding ENSG00000145819 HGNC:17073 05643 605370;607785 REVIEWED 1603262 ARHGAP36 Rho GTPase activating protein 36 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); intracellular (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; benzo[a]pyrene X X X q26.1 130578656 130610299 + 130192216 130223859 + 131058242 131089885 + 6480464;8554872 12477932;14702039;15489334;15772651;18029348;23464991;25024229 158763 Q6ZRI8;X6RIA0 AA405456;ABBA01047990;ABBA01047991;ABBA01047992;AK054620;AK128203;AK294274;AK296748;AL590131;AMYH02040493;BC063790;CD107623;CH471107;NM_001282607;NM_144967;XM_006724729 AAH63790;BAB70776;BAC87322;BAH11720;BAH12425;EAX11793;EAX11794;EAX11795;NP_001269536;NP_659404;Q6ZRI8;XP_006724792 Hs.22905 1658646;1721711;1755443;1852550 DXS7024E;G59719;SHGC-142312;WI-13730 FLJ30058;RP13-102H20.1 OTTHUMP00000024023;OTTHUMP00000024024;OTTHUMP00000024026;OTTHUMP00000215137;rho GTPase-activating protein 36 APPROVED protein-coding ENSG00000147256 HGNC:26388 06547 VALIDATED 1606778 ARHGAP39 Rho GTPase activating protein 39 INVOLVED IN axon guidance (inferred); regulation of small GTPase mediated signal transduction (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoskeleton (inferred); cytosol (inferred); nucleus (inferred); INTERACTS WITH coumestrol; 2,6-dinitrotoluene (ortholog); ammonium chloride (ortholog) 8 8 8 q24.3 141930235 142014662 - 145754563 145838891 - 144529179 144613506 - 6480464;8554872 11214970;12477932;14702039;15302935;15755809 80728 B3KS00;Q9C0H5 AB051475;ABBA01005198;ABBA01005199;ABBA01005200;AC084125;AK092501;AK296353;AK303851;AMYH02019010;AMYH02019011;AMYH02019012;BC013071;CH471162;KF573657;NM_025251;XM_005272344;XM_006716661 AAH13071;BAB21779;BAG52562;BAG59035;BAG64793;EAW82062;NP_079527;Q9C0H5;XP_005272401;XP_006716724 Hs.148988 CrGAP;KIAA1688;Vilse OTTHUMP00000228801;OTTHUMP00000228802;RhoGAP93B homolog;crossGAP homolog;rho GTPase-activating protein 39 APPROVED protein-coding ENSG00000147799 HGNC:29351 17224 615880 VALIDATED 1343259 ARHGAP40 Rho GTPase activating protein 40 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); FOUND IN cytosol (inferred); intracellular (inferred); INTERACTS WITH hydralazine; valproic acid; tamoxifen (ortholog) 20 20 20 q11.23 33941365 33990115 + 37230577 37279295 + 38601934 38650652 + 6480464 343578 H0Y397;H0Y7S1;H7BXE0;Q5TG30 ABBA01052526;ABBA01052527;AL035419;AL133519;AMYH02037062;NM_001164431;XM_006723783 NP_001157903;Q5TG30;XP_006723846 Hs.451997 1335158;1743261;1760075;2118167;2171107 D20S1152;D20S478;GDB:313405;SHGC-107732;Z94371 C20orf95;dJ1100H13.4 OTTHUMP00000030971;rho GTPase-activating protein 18-like;rho GTPase-activating protein 40;rho-type GTPase-activating protein 40 APPROVED protein-coding ENSG00000124143 HGNC:16226 INFERRED 1343373 ARHGAP4 Rho GTPase activating protein 4 This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X q28 153406543 153425434 - 153172830 153191777 - 153907376 153926260 - 1580863;6480464 10655059;11076863;11256614;11754100;11756498;12376548;12414125;12447388;12477932;12736724;12787561;14581471;15489336;16381901;16417406;18029348;18489790;19913121;20237496;20628086;21890473;21906983;22009749;22751105;22965914;23182705;24043878;7981673;8570618;8590280 393 C9J5M2;C9JLA8;E7EQN5;E9PCM6;F8WAR0;H7C120;H7C2Z8;H7C3G3;H7C3K8;P98171;S4R314;S4R352 ABBA01045337;ABBA01045338;ABBA01045339;ABBA01045340;ABBA01045341;ABBA01045342;AI249937;AK294562;AMYH02040848;AY183123;BC023626;BC052303;CH471172;D50921;KF510182;KF510654;NG_013220;NM_001164741;NM_001666;U52112;X78817;Z68128 AAH23626;AAH52303;AAO66337;BAA09480;BAH11812;CAA55394;CAA92213;CAL37504;CAL38100;EAW72777;EAW72778;EAW72779;EAW72780;EAW72781;EAW72782;NP_001158213;NP_001657;P98171 Hs.701324 1801570;1802020;1803354;1803392;1804762;1804944;1805050;1805102;1809150;1810114;1810538;1810540;1810982;1811374;1812290;1814134;1817982;1827218;1828232;1837142;1840322;1843974;2034158;2034160;2034162;2034164;2034166;2034168;2034170;2034204;2034206;2034208;2034210;2034212;2034214;2034216;2034218;2034220;2034222;2034224;2034226;2034228;2034230;2034232;2034234;2034236;2034238;2034240;2034242;2034244;2034246;2034248;2034250;2034252;2034254;2034256;2034258;2034260;2034262;2034264;2034266;2034268;2034270;2034272;2034274;2034276;2034278;2034280;2034282;2034284;2034286;2034288;2034290;2034292;2034294;2034296;2034298;2034300;2034302;2034304;2034306;2034308;2034310;2034312;2034314;2034316;2034318;2034320;2034322;2034324;2034326;2034328;2034330;2034332;2034334;2034336;2034338;2034340;2034342;2034344;2034346;2034348;2034350;2034352;2034354;2034356;2034358;2034360;2034362;2034364;2034366;2034368;2034370;2034372;2034374;2034376;2034378;2034380;2102102;2102104;2102106;2102108;2102110;2102112;2102114;2102116;2102118;2102120;2102122;2102124;2102126;2116353;2173341;2218248 ARHGAP4_4362;DXS8147;ECD01663;ECD01891;ECD02574;ECD02593;ECD03313;ECD03408;ECD03466;ECD03493;ECD05564;ECD06049;ECD06262;ECD06263;ECD06489;ECD06685;ECD07152;ECD08096;ECD10046;ECD14724;ECD15241;ECD19737;ECD21346;ECD23199;REN88088;REN88089;REN88090;REN88091;REN88092;REN88093;REN88094;REN88111;REN88112;REN88113;REN88114;REN88115;REN88116;REN88117;REN88118;REN88119;REN88120;REN88121;REN88122;REN88123;REN88124;REN88125;REN88126;REN88127;REN88128;REN88129;REN88130;REN88131;REN88132;REN88133;REN88134;REN88135;REN88136;REN88137;REN88138;REN88139;REN88140;REN88141;REN88142;REN88143;REN88144;REN88145;REN88146;REN88147;REN88148;REN88149;REN88150;REN88151;REN88152;REN88153;REN88154;REN88155;REN88156;REN88157;REN88158;REN88159;REN88160;REN88161;REN88162;REN88163;REN88164;REN88165;REN88166;REN88167;REN88168;REN88169;REN88170;REN88171;REN88172;REN88173;REN88174;REN88175;REN88176;REN88177;REN88178;REN88179;REN88180;REN88181;REN88182;REN88183;REN88184;REN88185;REN88186;REN88187;REN88188;REN88189;REN88190;REN88191;REN88192;REN88193;REN88194;REN88195;REN88196;REN88197;REN88198;REN88199;RH25354;stSG603684;stSG603685;stSG603686;stSG603688;stSG603689;stSG603690;stSG603691;stSG603692;stSG603693;stSG603694;stSG603695;stSG603696;stSG603698 C1;KIAA0131;RGC1;RhoGAP4;SrGAP4;p115 OTTHUMP00000026003;OTTHUMP00000026004;OTTHUMP00000063090;OTTHUMP00000196209;OTTHUMP00000198723;Rho-GAP hematopoietic protein C1;rho GTPase-activating protein 4;rho-type GTPase-activating protein 4 APPROVED protein-coding ENSG00000089820 HGNC:674 02063 300023 REVIEWED 3500508 ARHGAP42 Rho GTPase activating protein 42 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); signal transduction (inferred); FOUND IN intracellular (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 11 11 11 q22.1 97727721 98030995 + 100558407 100861656 + 100687676 100990925 + 6480464 14702039;16344560;18954304;20379614;21909110;21909115;23667675;24335996 143872 A6NI28;E9PJK4;H0YDU1;H0YEJ7 ABBA01039961;ABBA01039962;ABBA01039963;ABBA01039964;ABBA01039965;ABBA01039966;AC015600;AI672473;AI677857;AK023666;AK057372;AMYH02025451;AMYH02025452;AMYH02025453;AMYH02025454;AMYH02025455;AMYH02025456;AMYH02025457;AMYH02025458;AMYH02025459;AMYH02025460;AMYH02025461;AP000872;AP001351;BM014001;BU146672;DA800121;EG328683;KF455472;NM_152432 A6NI28;BAB71456;NP_689645 Hs.741465 1336430;1340321;1648628;1658774;1668259;1690324;1698756;1738201;1857780;2111772;2133005;2153534;2173427;2182762;5020340;5113116;7190615;7190619 D0S2244;D11S1971;D11S2035;D11S2067;D11S3831;D11S4100;D11S4472;D11S900;RH102941;RH66017;RH69562;RH79067;RH92123;SGC31108;WI-11049;WI-17552 FLJ32810;GRAF3;KIAA0621 OTTHUMP00000236201;rho GTPase-activating protein 10-like;rho GTPase-activating protein 42;rho-type GTPase-activating protein 42 protein-coding ENSG00000165895 HGNC:26545 615936 PROVISIONAL 6768999 ARHGAP42P2 Rho GTPase activating protein 42 pseudogene 2 2 2 2 q21.1 124074581 124077578 + 130763773 130766771 + 130006200 130009198 + 100130693 ABBA01040140;AC079776;AMYH02004770 pseudo HGNC:43939 MODEL 6483750 ARHGAP42P1 Rho GTPase activating protein 42 pseudogene 1 2 2 132085749 132088667 - 131328176 131331094 - 100887075 ABBA01028239;AC073869;AMYH02004808;NG_032717 pseudo HGNC:43940 INFERRED 6770425 ARHGAP42P4 Rho GTPase activating protein 42 pseudogene 4 14 14 q11.2 20156459 20159355 + 19688300 19691196 + 254398 AL512310;AMYH02037969;NG_028869 pseudo HGNC:43941 INFERRED 1350998 ARHGAP42P3 Rho GTPase activating protein 42 pseudogene 3 22 22 q11.1 16424125 16444178 + 15533785 15553838 - 266698 AP000534;NG_002375 OPHN1P1 APPROVED pseudo HGNC:19327 INFERRED 6769156 ARHGAP42P5 Rho GTPase activating protein 42 pseudogene 5 14 14 q11.2 19399163 19403263 - 18622686 18626786 - 100128514 ABBA01173075;AMYH02028780;CR383656;NG_028186 pseudo HGNC:43942 INFERRED 1349829 ARHGAP6 Rho GTPase activating protein 6 This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X p22.3 15283114 15812107 - 11155663 11683821 - 11137543 11665701 - 1580863;6480464;8554872 10699171;12477932;12673365;18434237;19913121;19960375;20628086;22889411;23251683;8570618;9417914 395 B4DN07;B7Z8H7;H7BYE6;O43182;Q59HG6 AB208792;ABBA01070885;ABBA01070886;ABBA01070887;ABBA01070888;ABBA01070889;ABBA01070890;ABBA01070891;ABBA01070892;ABBA01070893;ABBA01070894;ABBA01070895;ABBA01070896;ABBA01070897;ABBA01070898;ABBA01070899;ABBA01070900;ABBA01070901;ABBA01070902;ABBA01070903;ABBA01070904;ABBA01070905;ABBA01070906;ABBA01070907;ABBA01070908;ABBA01070909;ABBA01070910;ABBA01070911;ABBA01070912;ABBA01070913;ABBA01070914;ABBA01070915;ABBA01070916;ABBA01070917;ABBA01070918;ABBA01070919;ABBA01070920;ABBA01070921;ABBA01070922;ABBA01070923;ABBA01070924;ABBA01070925;ABBA01070926;ABBA01070927;ABBA01070928;ABBA01070929;AC002366;AC003657;AC004467;AC004554;AC130886;AC130890;AF012272;AF022212;AF117067;AF177663;AF177665;AK293078;AK297713;AK297747;AK303444;AMYH02038853;AMYH02038854;AMYH02038855;AMYH02038856;AMYH02038857;AMYH02038858;AMYH02038859;AMYH02038860;BC035785;BC150635;CH471074;HY018118;KC877956;NG_012494;NM_001287242;NM_006125;NM_013423;NM_013427;NR_109776;XM_005274505;XM_005274506;XM_005274507 AAC98539;AAC98540;AAD53166;AAD55087;AAF43261;AAI50636;BAD92029;BAF85767;BAG60069;BAG60097;BAH13963;EAW98786;EAW98787;EAW98788;EAW98789;EAW98790;EAW98791;NP_001274171;NP_006116;NP_038267;NP_038286;O43182;XP_005274562;XP_005274563;XP_005274564 Hs.435291 1334942;1340401;1657639;1679774;1681165;1693974;1693976;1693978;1693980;1693982;1693984;1693998;1694028;1694052;1701994;1702156;1702256;1702852;1702862;1702906;1706890;1710836;1720241;1726893;1728909;1739475;1740289;1743711;1744867;1744869;1744873;1744877;1744879;1753779;1769050;1787204;1797068;1857984;2112222;2112224;2139997;2144628;2177113;2185482;2218250;7186425 AF003642;AF003643;AF003645;AF003646;AF003647;AF003648;AF003655;AF003672;AF003685;AFMa052zc1;AMELX;ARHGAP6_4363;D11S1905;DXF22S5;DXS1043;DXS1129;DXS1135;DXS1380;DXS1445;DXS7090;DXS7519;DXS7543;DXS7800;DXS7928;DXS8202;DXS9824;DXS9825;G42692;G62689;GDB:371402;GDB:574117;GDB:574121;GDB:574132;GDB:574144;GDB:574146;GDB:677393;RH123869;RH46956;RH79902;RH98500;SHGC-105133;SHGC-108012;SHGC-34710;SHGC-80932;SHGC-84186 RHOGAP6;RHOGAPX-1 OTTHUMP00000022913;OTTHUMP00000022915;OTTHUMP00000022916;OTTHUMP00000022917;OTTHUMP00000022918;OTTHUMP00000236431;Rho-type GTPase-activating protein RhoGAPX-1;rho GTPase-activating protein 6;rho-type GTPase-activating protein 6 APPROVED protein-coding ENSG00000047648 HGNC:676 02124 300118 REVIEWED 1606315 ARHGAP8 Rho GTPase activating protein 8 This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010] 22 22 22 q13.31 29060362 29170596 + 45148438 45258664 + 44752558 44862784 + 6480464;8554872 10591208;12297274;12477932;12559566;12944407;14702039;15064355;15225876;15506981;15944398;15955831;16555160;18217980;19913121;20179103;20628086;21890473;21906983;22554406;22863734 23779 B1AHC2;B1AHC4;B1AHF8;F8W6F4;F8WCV8;P85298;Q6PJW1 ABBA01017851;ABBA01017852;ABBA01017853;ABBA01017854;ABBA01017855;AF544240;AI284954;AK001306;AK022305;AMYH02038504;AMYH02038505;AMYH02038506;AMYH02038507;AW673723;BC010490;BC048280;BC059382;BC067824;BC093675;BC111953;NM_001017526;NM_001198726;NM_181335;Z93244 AAH10490;AAH48280;AAH59382;AAH93675;AAI11954;AAN40769;BAA91614;BAB14008;NP_001017526;NP_001185655;NP_851852;P85298 Hs.102336 1339982;1709650;1711490;1711492;1747489;1754307;1777909;2115169;2136929;2145942;5022578;5037552 AL008674;AL021650;AL021655;AL021670;D1S1423;D22S1168;D8S2279;G49246;G49247;G65368;SHGC-132331;SHGC-85190 BPGAP1;FLJ20185;PP610 BCH domain-containing Cdc42GAP-like protein;BNIP-2 and Cdc42GAP homology domain-containing, proline-rich and Cdc42GAP-like protein subtype-1;OTTHUMP00000028598;OTTHUMP00000082599;OTTHUMP00000082600;OTTHUMP00000219408;rho GTPase-activating protein 8;rho-type GTPase-activating protein 8 APPROVED protein-coding ENSG00000241484;ENSG00000248405 HGNC:677 06448 609405 REVIEWED 1354371 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 17 17 17 q25.3 76429063 76432256 - 79825595 79829282 - 81867721 81871406 - 1580863;6480464;6484113;6907045;8699517;7240710;8554872 10346909;10489445;10664460;10673424;10676816;10713718;10716190;10779444;11114252;11149925;11320308;11368848;11513578;11513579;11809807;12477932;12692556;15225553;15489334;15513926;15659383;15952105;16024605;16130169;16169070;16215275;16236267;16472651;16526095;16596196;16916647;16943322;17074770;17330946;17353931;17653765;17909265;18070886;18524772;18651761;18702520;18723680;18768928;18992375;19056867;19211846;19401544;19471022;20028975;20043072;20161819;20305651;20347589;20381070;20400958;20472934;20628200;20639865;20696765;20711218;20812987;20846184;20936779;21044950;21122136;21139048;21145461;21269984;21319273;21327297;21402697;21447808;21548210;21569526;21681778;21693764;21757538;21779026;21890473;21900206;21906983;22053931;22393046;22505724;22530308;22532870;22586326;22628549;22668020;22939629;23000965;23283986;23358418;23406297;23434736;23563506;23867502;23918979;23922223;23967341;24129566;24228117;24240172;24250222;24276241;24374343;24561123;24583282;24710410;24816145;8262133;8491184;8504089;9186513;9194563;9195882;9287351;9490022;9681826 396 J3KRE2;J3KRY1;J3KS60;J3KTF8;J3QQX2;J3QW41;P52565;V9HWE8 ABBA01019648;ABBA01019649;AC137723;AC145207;AF498926;AI391750;AI751683;AK293147;AK300816;AK312347;AMYH02034140;AMYH02034141;BC005851;BC005875;BC007630;BC008701;BC009759;BC013846;BC016031;BC016185;BC024258;BC027730;BC028333;BC075827;BC106044;BF343803;BI755343;BI768191;BM552638;BP325393;BQ674863;BT006884;CF132249;CF132324;CH471099;CR456777;D13989;DA433004;DC406556;EU794615;M97579;NG_034210;NM_001185077;NM_001185078;NM_001301240;NM_001301241;NM_001301242;NM_001301243;NM_004309;NR_125441;X63863;X69550 AAA36566;AAH05851;AAH05875;AAH08701;AAH09759;AAH16031;AAH16185;AAH24258;AAH27730;AAH75827;AAI06045;AAM21074;AAP35530;ABM82043;ABM85222;ACJ13669;BAA03096;BAG35268;BAG56694;BAG62471;CAA45344;CAA49281;CAG33058;EAW89697;EAW89698;NP_001172006;NP_001172007;NP_001288169;NP_001288170;NP_001288171;NP_001288172;NP_004300;P52565 Hs.159161;Hs.599508;Hs.728006 2115369 RH16023 GDIA1;HEL-S-47e;MGC117248;NPHS8 GDP-dissociation inhibitor, aplysia RAS-related 1;RHOGDI;RHOGDI-1;epididymis secretory sperm binding protein Li 47e;rho GDI 1;rho GDP-dissociation inhibitor 1;rho-GDI alpha APPROVED protein-coding ENSG00000141522 HGNC:678 03565 601925;615244 REVIEWED 1318315 ARHGAP5 Rho GTPase activating protein 5 Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q12 12412908 12495351 + 32545664 32628934 + 32076458 32159728 + 1580863;6480464;8554872 10092539;10713673;10769036;10939588;12477932;12554790;12842009;14610059;14702039;15231748;15588985;16469769;16777052;1689011;18996642;19822667;21139048;22939629;23184937;23402259;23474761;23552690;23653363;24316134;24561123;7935432;8344248;8537347;8889548 394 G3V360;G3V444;G3V5I7;H0YK04;Q13017 AB209751;ABBA01061428;ABBA01061429;AK023468;AK292966;AK307454;AL045112;AL161665;AMYH02028960;AMYH02028961;AY316523;BC032723;BC050059;BC075799;BC129928;BC129929;CA945100;CH471078;NM_001030055;NM_001173;U17032;XM_005267635;XM_005267636;XR_245684 AAA95963;AAH32723;AAH50059;AAH75799;AAI29929;AAI29930;AAP83192;BAD92988;BAF85655;EAW65935;EAW65936;EAW65937;EAW65938;NP_001025226;NP_001164;Q13017;XP_005267692;XP_005267693 Hs.592313 1666966;1671314;1701400;1771362;2115920;2122254;2127940 G35570;G36303;RH104330;RH18005;RH45106;RH68433;SHGC-36390 GFI2;RhoGAP5;p190-B;p190BRhoGAP OTTHUMP00000244094;OTTHUMP00000244095;OTTHUMP00000244097;OTTHUMP00000244099;growth factor independent 2;p100 RasGAP-associated p105 protein;p105 RhoGAP;rho GTPase-activating protein 5;rho-type GTPase-activating protein 5 APPROVED protein-coding ENSG00000100852 HGNC:675 04060 602680 REVIEWED 1344910 ARHGAP5-AS1 ARHGAP5 antisense RNA 1 (head to head) INTERACTS WITH aflatoxin B1; benzo[a]pyrene; calcitriol 14 14 14 q12 12411038 12412318 - 32544625 32545905 - 32075419 32076699 - 6480464 12477932;15489334;16341674 84837 Q96IT6 ABBA01061428;AF147421;AI493138;AK314153;AL161665;AMYH02028960;BC007251;BM745256;CH471078;HG506088;NR_027263 BAG36839;EAW65939;EAW65940;Q96IT6 Hs.496755 1671314;2122254 RH68433;SHGC-36390 C14orf128;MGC15504;RP11-431H16.2 APPROVED ncrna HGNC:20279 VALIDATED 1313314 ARHGAP9 Rho GTPase activating protein 9 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 57520025 57527620 - 57866038 57882756 - 57472255 57488621 - 1580863;6480464;7240710;8554872 11396949;12297274;12477932;14702039;15231748;15489334;16189514;16344560;17284314;17339315;19807924;19911011;21832049;21890473;22505724 64333 F8VQR0;F8VQY5;F8VR90;F8VSD0;F8VW89;F8W1N6;H0YI33;H0YI36;J3KPQ4;Q9BRR9;R4GN15 AB030239;AB051853;ABBA01026701;AC022506;AF161339;AK057573;AK092763;AK131415;AK300910;AK301095;AK304107;AL713803;AMYH02026584;BC006107;BC011820;CB528354;CH471054;DA675251;NG_023205;NM_001080156;NM_001080157;NM_032496;XM_005269079;XM_005269081;XM_005269082;XM_005269083;XM_005269084;XM_005269085;XM_006719560 AAF28899;AAH06107;AAH11820;ABM87429;ABW03888;BAB56159;BAB83128;BAC03969;BAD18562;BAG51936;BAG62545;BAG62695;BAG65010;CAD28552;EAW97014;EAW97015;EAW97016;EAW97017;EAW97018;NP_001073625;NP_001073626;NP_115885;Q9BRR9;XP_005269136;XP_005269138;XP_005269139;XP_005269140;XP_005269141;XP_005269142;XP_006719623 Hs.437126 1698778;1744029;1774019;1792710;2157183 D12S1934;GDB:384866;PMC156767P1;RH102952;STS-X07384 10C;FLJ16525;MGC1295;RGL1 OTTHUMP00000196432;OTTHUMP00000196433;OTTHUMP00000242579;OTTHUMP00000242581;rho GTPase-activating protein 9;rho-type GTPase-activating protein 9 APPROVED protein-coding ENSG00000123329 HGNC:14130 06449 610576 REVIEWED 1604841 ARHGAP44 Rho GTPase activating protein 44 ENCODES a protein that exhibits phospholipid binding; INVOLVED IN exocytosis (inferred); positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN leading edge membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; aflatoxin B1 17 17 17 p12 12718166 12920275 + 12692829 12894960 + 12789512 12991643 + 6480464;8554872 11431473;12477932;14702039;15489334;16169070;16344560;19273615;21107268;22566634;23648065;24250222;24816145;9734811 9912 A6NCP5;E7ERK8;F5H6L3;J3KRS3;J3QQU7;K7EK86;Q17R89;Q69Z00 AB014572;ABBA01055008;ABBA01055009;ABBA01055010;ABBA01055011;ABBA01055012;ABBA01055013;AC005274;AC005277;AK023797;AK294538;AL080100;AL096728;AMYH02033011;AMYH02033012;AMYH02033013;AY320403;BC022452;BC070074;BC094754;BC117412;BC117416;BC143852;BC143853;BC143855;BC143856;BM993036;CH471108;DA403021;DB461035;NM_014859;XM_005256888;XM_005256889;XM_005256890;XM_005256891;XM_006721615 AAH22452;AAI17413;AAI17417;AAI43854;AAP73805;BAA31647;BAG57745;CAB46376;CAH10728;EAW89965;EAW89966;EAW89967;EAW89968;EAW89969;NP_055674;Q17R89;XP_005256945;XP_005256946;XP_005256947;XP_005256948;XP_006721678 Hs.499758 1299913;1677102;1736636;1754321;2129366;2191793;7185389 D17S1477E;D17S947;MARC_7897-7898:996688141:1;RH45714;SHGC-132349;STS-N70341 KIAA0672;NPC-A-10;RICH-2;RICH2 OTTHUMP00000064673;Rho-type GTPase-activating protein RICH2;RhoGAP interacting with CIP4 homologs protein 2;rho GTPase-activating protein 44;rho GTPase-activating protein RICH2 APPROVED protein-coding ENSG00000006740 HGNC:29096 13810 VALIDATED 1346816 ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. [provided by RefSeq, Jul 2008] 8 8 8 p23 1715545 1849273 + 1772149 1906807 + 1823983 1958641 + 1580863;6480464;7240710;8554872;8699517 12168954;12477932;14508709;15146197;15489334;16896804;17893707;19615732;19635168;20042462;20379614;21719701;21743172;22863883;23412934;24250222;9205841;9314494 9639 E9PB39;H0YAN8;O15013 AA758332;AB002292;ABBA01016746;ABBA01016747;ABBA01016748;AC019257;AF009205;AI348138;AK309799;AL137508;AMYH02017233;AMYH02017234;AMYH02017235;AMYH02017236;BC026965;BC036809;BC040474;BC112926;CH471181;CN307765;CQ766815;CR749570;KF458656;NG_008480;NM_014629;XM_005266039;XM_005266040;XM_005266041;XM_005266042;XM_006716238;XM_006716239;XM_006716240;XM_006716241;XM_006725104;XM_006725105;XM_006725106;XM_006725107;XM_006725108;XM_006725109;XM_006725110;XM_006725111 AAB71662;AAH36809;AAH40474;AAI12927;BAA20754;CAF33078;CAH10696;CAH18365;EAW51480;EAW51481;EAW51482;EAW51483;EAW51484;NP_055444;O15013;XP_005266096;XP_005266097;XP_005266098;XP_005266099;XP_006716301;XP_006716302;XP_006716303;XP_006716304;XP_006725167;XP_006725168;XP_006725169;XP_006725170;XP_006725171;XP_006725172;XP_006725173;XP_006725174 Hs.98594 1643868;1679209;1685914;1708676;1715849;1727737;1771933;2115107;2134908;2183433;2217022;5037552 AF009206;AF009213;AF009214;ARHGEF10_3936;D8S2279;G63133;RH119618;RH79054;RH92255;RH98569;SHGC-81479;WI-11694 DKFZp686H0726;GEF10;MGC131664;SNCV OTTHUMP00000224478;OTTHUMP00000224479;OTTHUMP00000224480;OTTHUMP00000224481;rho guanine nucleotide exchange factor 10 APPROVED protein-coding ENSG00000104728 HGNC:14103 09735 608136;608236 REVIEWED 1313380 ARHGDIB Rho GDP dissociation inhibitor (GDI) beta Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010] 12 12 12 p12.3 20239953 20259563 - 15094949 15114562 - 14942016 14961628 - 1580863;6480464;6907045 10655614;10664460;10779444;11368848;11809807;11989976;12203895;12386169;12477932;15173088;15489334;15592455;16130169;17487395;17826660;18006811;18037226;18303015;18676680;18689726;19056867;19064571;19170196;19269969;19276387;19321744;19351766;19509238;19625176;19655254;19692168;20013033;20375790;20596634;21067243;21695085;21832049;21861235;21890473;21900206;21936715;21986528;2226408;22353809;22364609;22406535;22469974;22505724;22674302;22777355;23206989;23232495;24185104;24657165;7513052;7782346;7896279;8262133;8356058;8434008;8626669;9113980;9287351;9490022;9799233 397 F5H2R5;F5H3P3;F5H6Q0;H0YGX7;P52566 AA143425;AB451315;AB451445;ABBA01067887;AC007655;AF498927;AK311807;AMYH02026097;BC009200;CH471094;FB571118;FB668249;KF455613;L07916;L20688;NM_001175;X69549 AAA59539;AAH09200;AAM21075;ABM84229;ABM87475;BAG34750;BAG70129;BAG70259;CAA49280;CAR95110;CAS92768;EAW96336;EAW96337;EAW96338;EAW96339;EAW96340;EAW96341;EAW96342;NP_001166;P52566 Hs.504877 1725981;1734008;1795390;2130074;5123285 ARHGDIB_1466;D12S1115;G62403;RH126;SHGC-12871 D4;GDIA2;GDID4;Ly-GDI;RAP1GN1;Rho GDI 2;RhoGDI2;rho-GDI beta LYGDI;OTTHUMP00000239340;OTTHUMP00000239341;OTTHUMP00000239342;OTTHUMP00000239343;OTTHUMP00000239344;rho GDP-dissociation inhibitor 2 APPROVED protein-coding ENSG00000111348 HGNC:679 04162 602843 VALIDATED 1351280 ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] 19 19 19 q13.13 39186950 39211282 + 42387240 42411604 + 41883173 41907452 + 6480464;6484113 10556093;10608806;10648409;10747909;11313914;11358341;11384980;11524686;12270917;12372594;12477932;12525488;12534370;12581858;12681510;12692556;12748184;12754211;12951563;14634662;14712228;15090612;15143072;15489334;15735747;15753034;16215275;17335080;17493936;17643375;18029348;18320579;19720875;19738201;19911011;19913121;20619149;20628086;20936779;21064165;21145461;21454492;21890473;21900206;21906983;22086927;22500016;22505724;22661716;22863883;23070684;23077317;23705972;23718289;23816534;24816145;24855647;8810315;9135076;9641915;9641916 9138 M0QXV6;M0QYC1;M0QYS3;M0QZH8;M0QZR4;M0R1K8;M0R2C7;M0R3H5;Q6NX52;Q92888 ABBA01040816;ABBA01040817;AC010616;AC243967;AK026781;AL832294;BC005155;BC011726;BC015652;BC034013;BC035127;BC064996;BC067262;BM147791;BQ944132;BT007421;CH471126;NM_004706;NM_198977;NM_199002;U64105;XM_005259386;XM_005259387;XM_005259388;XM_005259389;XM_005259390;XM_006723463 AAB17896;AAH05155;AAH11726;AAH34013;AAH35127;AAH67262;AAP36089;ABM84518;ABM85930;ACE87053;ACE87735;EAW57077;EAW57078;EAW57079;EAW57080;EAW57081;EAW57082;EAW57083;EAW57084;NP_004697;NP_945328;NP_945353;Q92888;XP_005259443;XP_005259444;XP_005259445;XP_005259446;XP_005259447;XP_006723526 Hs.631550 1643897;1689927;5016478 GDB:434012;RH92886;WI-15934 GEF1;LBCL2;LSC;P115-RHOGEF;SUB1.5 115 kDa guanine nucleotide exchange factor;115-kD protein;Lsc homolog;p115RhoGEF;rho guanine nucleotide exchange factor 1 APPROVED protein-coding ENSG00000076928 HGNC:681 03511 601855 REVIEWED 1321818 ARHGDIG Rho GDP dissociation inhibitor (GDI) gamma The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010] 16 16 16 p13.3 530508 532906 + 330606 333003 + 280606 283003 + 1580863;6480464;8554872 11157797;11809807;11967128;12477932;14764880;15489334;15513926;15616553;20098615;21697133;8889548;8939998;9113980;9787082 398 A2ID99;C9J3B5;C9J9L9;C9JR26;F1T0H7;Q99819 AB593111;ABBA01030379;ABBA01030380;ABBA01030381;AE006463;AF080237;AF498928;AMYH02031186;BC047699;BM662457;BU732723;CH471112;NM_001176;U82532;Z69667 AAC33138;AAC72354;AAH47699;AAK61222;AAM21076;BAJ84051;CAI95584;CAI95585;CAM26353;EAW85837;NP_001167;Q99819 Hs.647388 1655114;1800744;1802368;1809570;1813390;1814346;1820840;1821132;1821192;1842726;2048400;2048402;2048404;2048406;2048410;2048412;2048414;2048416;2048418;2048420;2048422;2048424;2048430;2048432;2048436;2048440;2048444;2048446;2048448;2048450;2048452;2048454;2048456;2048458;2048460;2048462;2048464;2048466;2048468;2048470;2048472;2048474;2048476;2048478;2048480;2048482;2048484;2104578;2104580;2104582;2104584;2104586 ECD01233;ECD02068;ECD05777;ECD07716;ECD08202;ECD11496;ECD11643;ECD11673;ECD22570;REN95338;REN95339;REN95340;REN95341;REN95343;REN95344;REN95345;REN95346;REN95347;REN95348;REN95349;REN95350;REN95353;REN95354;REN95356;REN95358;REN95360;REN95361;REN95362;REN95363;REN95364;REN95365;REN95366;REN95367;REN95368;REN95369;REN95370;REN95371;REN95374;REN95375;REN95376;REN95377;REN95378;REN95379;REN95380;REN95381;REN95382;RH71265;stSG608995;stSG608996;stSG608998;stSG608999;stSG609003 RHOGDI-3 OTTHUMP00000067352;OTTHUMP00000067353;OTTHUMP00000194914;RhoGDI gamma;rho GDI 3;rho GDP-dissociation inhibitor 3;rho-GDI gamma APPROVED protein-coding ENSG00000242173 HGNC:680 04163 602844 VALIDATED 1605662 ARHGEF10L Rho guanine nucleotide exchange factor (GEF) 10-like ARHGEF10L is a member of the RhoGEF family of guanine nucleotide exchange factors (GEFs) that activate Rho GTPases (Winkler et al., 2005 [PubMed 16112081]).[supplied by OMIM, Dec 2008] 1 1 1 p36.13 16191428 16350418 + 17846693 18024370 + 17520197 17697875 + 6480464 10997877;12477932;14702039;16112081;16169070;18849993;19911011;20379614;22095909;23251661 55160 B4DTE2;Q5VXI4;Q9HCE6 AB046846;ABBA01000279;ABBA01000280;ABBA01000281;ABBA01000282;ABBA01000283;ABBA01000284;AK001383;AK092020;AK123471;AK126877;AK129606;AK129959;AK300174;AK300264;AK311076;AL139250;AL358593;AL390994;AMYH02000400;AMYH02000401;AMYH02000402;AW455769;BC003073;BC029928;BC065561;BC080596;BC111058;BC117171;BC143347;BX538146;CH471134;DQ139833;KF495877;KF510708;NM_001011722;NM_018125;XM_005245923;XM_005245924;XM_005245925;XM_005245926;XM_005245927;XM_005245928;XM_005245929;XM_006710727;XM_006710728;XM_006710729;XM_006710730;XM_006710731;XM_006710732;XM_006710733;XM_006710734;XR_426616;XR_426617;XR_426618 AAH65561;AAH80596;AAI17172;AAI43348;AAZ73162;ADR83391;BAA91663;BAB13452;BAC03792;BAG54386;BAG61954;BAG62025;EAW94840;EAW94841;EAW94842;EAW94843;EAW94844;NP_001011722;NP_060595;Q9HCE6;XP_005245980;XP_005245981;XP_005245982;XP_005245983;XP_005245984;XP_005245985;XP_005245986;XP_006710790;XP_006710791;XP_006710792;XP_006710793;XP_006710794;XP_006710795;XP_006710796;XP_006710797 Hs.443460 1648308;1663104;1732844;1733172;1735966;1761805;2123123;2133678;2180185;5022450;5024413;5037552 D10S275;D1S1283;D1S1474;D1S1954E;D1S544;D8S2279;G17701;HSC1HH062;L17877;SHGC-145764;SHGC-74299;SHGC-74357 FLJ10521;KIAA1626;RP11-473A10.1 GrinchGEF;OTTHUMP00000002615;OTTHUMP00000002616;OTTHUMP00000002617;rho guanine nucleotide exchange factor 10-like protein APPROVED protein-coding ENSG00000074964 HGNC:25540 07679 612494 VALIDATED 1315873 ARHGEF15 Rho guanine nucleotide exchange factor (GEF) 15 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010] 17 17 17 p13.1 8244326 8256604 + 8213556 8225834 + 8310238 8322516 + 1580863;6480464;6484113;8554872 10048485;12168954;12477932;12775584;14702039;15489334;15604093;16189514;16344560;19911011;21029857;21029865;23029280 22899 J3KT46;J3QQS4;J3QS60;O94989 AB020722;ABBA01054911;AC135178;AK023853;AK291626;AK300327;AL601528;AMYH02032923;BC036749;BQ004849;BQ877184;CH471108;DA632576;DB279954;NG_034063;NM_025014;NM_173728;XM_005256537;XM_006721474 AAH36749;BAA74938;BAF84315;BAG62077;EAW90060;EAW90061;NP_079290;NP_776089;O94989;XP_005256594;XP_006721537 Hs.443109 1686879;1694428;2130553;5037552 D8S2279;G42912;RH78291;RH80720 ARGEF15;E5;Ephexin5;FLJ13791;KIAA0915;MGC44868;Vsm-RhoGEF OTTHUMP00000135329;Rho GEF 15;Rho guanine exchange factor (GEF) 15;ephexin-5;rho guanine nucleotide exchange factor 15 APPROVED protein-coding ENSG00000198844 HGNC:15590 10535 608504 REVIEWED 734056 ARHGEF11 Rho guanine nucleotide exchange factor (GEF) 11 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 1 q21 129975863 130086340 - 156904632 157015512 - 156934840 157046558 - 1580863;6480464;8554872 10026210;10526156;10900204;11242047;11470431;11756498;12123608;12183458;12220504;12372594;12376548;12421765;12477932;12730235;12787561;14625312;14684465;14742719;15143072;15530360;15755723;16192269;16192272;16478718;16691626;16710414;17081983;17287471;17369523;17474147;17620599;18029348;18086913;18231709;19322201;19460155;19618964;19759375;20368287;20379614;20613766;20800603;20936779;21139048;21210224;21454492;21816819;21988832;24106280;24855647;9205841 9826 O15085 AB002378;ABBA01016640;ABBA01016641;AK302500;AL157713;AL356104;AL832790;AMYH02001983;AMYH02001984;AMYH02001985;AMYH02001986;AMYH02001987;AMYH02001988;BC057394;CH471121;NM_014784;NM_198236;XM_005245629;XM_005245633;XM_006711659;XM_006711660;XM_006711661;XM_006711662;XM_006711663;XM_006711664;XM_006711665 AAH57394;BAA20834;BAH13728;EAW52892;EAW52893;EAW52894;NP_055599;NP_937879;O15085;XP_005245686;XP_005245690;XP_006711722;XP_006711723;XP_006711724;XP_006711725;XP_006711726;XP_006711727;XP_006711728 Hs.516954 1664946;1692132;1703378;1755699;1761947;1766261;2123832;2124635;2133873 AL034019;RH45970;RH64623;RH68042;SHGC-142538;SHGC-145882;SHGC-149619;SHGC-68674;STS-AA039568 DKFZp667F1223;GTRAP48;KIAA0380;PDZ-RHOGEF OTTHUMP00000038716;OTTHUMP00000038717;Rho guanine exchange factor (GEF) 11;RhoA-specific guanine nucleotide exchange factor;RhoGEF glutamate transport modulator;glutamate transporter EAAT4-associated protein 48;rho guanine nucleotide exchange factor 11;rhogef glutamate transport modulator gtrap48 APPROVED protein-coding ENSG00000132694 HGNC:14580 09302 605708 REVIEWED 1347062 ARHGEF16 Rho guanine nucleotide exchange factor (GEF) 16 Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008] 1 1 1 p36.3 2624447 2650733 + 3371147 3397677 + 3454583 3481113 + 6480464 11756498;12376548;12477932;12787561;14702039;15161933;15489334;15778465;16344560;16710414;19707205;19911011;20339536;20679435;21139582;22889411 27237 B0QZD3;B0QZD4;B3KTS4;B4DJM7;Q5VV41 ABBA01073658;ABBA01073659;ABBA01073660;AK091910;AK095984;AK296150;AK310408;AL512413;AMYH02000134;AMYH02000135;AMYH02000136;BC002681;BC051838;BT007270;CH471130;D89016;DA539376;DB499586;NM_014448;XM_005244740;XM_006710578 AAH02681;AAH51838;AAP35934;ABM84739;ABM92254;BAA13745;BAG53186;BAG58889;EAW71452;EAW71453;NP_055263;Q5VV41;XP_005244797;XP_006710641 Hs.87435 1770023;2113216 D1S3709E;SHGC-74074 GEF16;NBR OTTHUMP00000000683;OTTHUMP00000000684;OTTHUMP00000000685;Rho guanine exchange factor (GEF) 16;ephexin-4;rho guanine nucleotide exchange factor 16 APPROVED protein-coding ENSG00000130762 HGNC:15515 12478 REVIEWED 1312950 ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 q23.3 117367395 117520075 + 120207264 120360645 + 120336555 120489936 + 1580863;6480464;6907045;7240710;8699517;8554872 10681437;11094164;11373293;11724822;11756498;11799111;12123608;12183458;12196628;12220504;12372594;12376548;12376551;12477932;12515866;12787561;14712228;15143072;15331592;15345747;15755723;16192269;16192274;16565089;16644711;17620599;17766704;18187620;18411422;19056867;19074425;19273616;19560536;19734946;19911011;20018869;20348106;20379614;20702813;20800603;21139048;21454492;21670212;22100544;22190034;22962269;23207522;23405219;23885121;24106280;24585879;9205841 23365 B4E2K6;E9PMR6;Q9NZN5 AB002380;ABBA01039657;ABBA01039658;AF119898;AF180681;AK294803;AK304316;AL137456;AMYH02025676;AMYH02025677;AP000659;AP000758;AP001150;BC031784;BC063117;BX647785;BX648515;CH471065;DC350360;NG_027960;NM_001198665;NM_001301084;NM_015313;XM_005271478;XM_005271480;XM_006718805 AAF36817;AAF69652;AAH63117;AAI52901;BAA20836;BAG57923;BAG65168;EAW67508;EAW67509;EAW67510;NP_001185594;NP_001288013;NP_056128;Q9NZN5;XP_005271535;XP_005271537;XP_006718868 Hs.24598 1652387;1676724;1752881;2117313;2123358;2130249;2131237;2164818;2164820;2171067;2172226;2218726;5093484;7186097;7186098 A005R48;A009P33;ARHGEF12_3798;D11S2318E;D11S4343;G20457;G29223;G32745;RH17448;RH36486;RH92805;SHGC-106833;WI-21762 DKFZp686O2372;KIAA0382;LARG;PRO2792 OTTHUMP00000231993;OTTHUMP00000231994;leukemia-associated RhoGEF;leukemia-associated rho guanine nucleotide exchange factor;rho guanine nucleotide exchange factor 12 APPROVED protein-coding ENSG00000196914 HGNC:14193 09207 601626;604763 REVIEWED 6481190 ARHGEF19-AS1 ARHGEF19 antisense RNA 1 p36.13 100874233 AI127333;AL109627 Hs.378115 APPROVED ncrna HGNC:39996 1312400 ARHGEF19 Rho guanine nucleotide exchange factor (GEF) 19 Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008] 1 1 1 p36.13 15004527 15018992 - 16524599 16539104 - 16198104 16212609 - 737633;1580863;6480464 12477932 14702039;15485661;18187620;18256687;21906983;24405610 128272 H0Y4D8;Q5TEV0;Q8IW93 ABBA01004679;AK091281;AK297707;AL109627;AL137736;AMYH02000379;BC012982;BC040640;CH471167;NM_153213 AAH12982;AAH40640;BAC03627;BAG60064;EAW51771;NP_694945;Q8IW93 Hs.591532 1678835;1696720;2107849 ARHGEF19_8138;RH91904;SHGC-77876 FLJ33962;RP4-733M16.1;WGEF OTTHUMP00000002239;ephexin-2;rho guanine nucleotide exchange factor 19;weakly similar to Rho GEF APPROVED protein-coding ENSG00000142632 HGNC:26604 10659 612496 PROVISIONAL 1322915 ARHGEF18 Rho/Rac guanine nucleotide exchange factor (GEF) 18 Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 19 19 19 p13.3 7331115 7409876 + 7420481 7537371 + 7348892 7472485 + 1580863;6480464;8554872 11085924;11318610;11756498;12376548;12477932;12787561;14512443;16344560;17643375;18029348;20200978;20810787;20811636;21258369;22006950;22445761;23185572;23648482;24250222;24816145;9628581 23370 M0QZS0;M0R125;Q6ZSZ5 AA609742;AA829883;AB011093;ABBA01006121;ABBA01006122;ABBA01006123;ABBA01006124;ABBA01006125;ABBA01006126;ABBA01006127;ABBA01006128;ABBA01010902;ABBA01010903;ABBA01010904;AC008878;AC119396;AK074372;AK127045;AMYH02035395;AMYH02035396;AMYH02035397;BC008016;BC014994;BC077721;BQ055909;BX404969;DB075637;KF456488;KF456490;NM_001130955;NM_015318;XM_005272464;XM_005272465;XM_006722705;XM_006722706;XM_006722707;XM_006722708;XM_006722709 AAH77721;BAA25447;BAC86801;NP_001124427;NP_056133;Q6ZSZ5;XP_005272521;XP_005272522;XP_006722768;XP_006722769;XP_006722770;XP_006722771;XP_006722772 Hs.465761;Hs.736818 1340746;1770216;1775484;2107847;2157737 2058;ARHGEF18_8009;D19S901;RH78224;WI-14772 KIAA0521;MGC15913;P114-RhoGEF 114 kDa Rho-specific guanine nucleotide exchange factor;P114-RHO-GEF;Rho-specific guanine nucleotide exchange factor p114;Rho/Rac guanine nucleotide exchange factor 18;SA-RhoGEF;p114RhoGEF;rho guanine nucleotide exchange factor 18;septin-associated RhoGEF APPROVED protein-coding ENSG00000104880;ENSG00000268861 HGNC:17090 12479 REVIEWED 1601833 ARHGEF25 Rho guanine nucleotide exchange factor (GEF) 25 Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 12 12 12 q13.3 57659778 57666841 + 58003963 58011028 + 57610180 57617245 + 6480464;8554872 11861769;12477932;12547822;15069594;15322108;15632174;16314529;16496360;18096806;18851832;18936096;20395553;20739613;21663592;21832057;21885830;22147804;23380069;23884432;24356540 115557 Q86VW2 AB370196;ABBA01026695;AC025165;AF487514;AI677902;AMYH02026588;BC012860;BC018536;BC047559;DB481981;NM_001111270;NM_182947;NR_046223 AAH12860;AAH18536;AAH47559;AAO49463;BAF94999;NP_001104740;NP_891992;Q86VW2 Hs.61581 1681919;2218522 DTX3__4788;RH94136 GEFT;p63RhoGEF OTTHUMP00000201858;OTTHUMP00000201859;RAC/CDC42 exchange factor;RhoA/RAC/CDC42 exchange factor;guanine nucleotide exchange factor GEFT;rac/Cdc42/Rho exchange factor GEFT;rho guanine nucleotide exchange factor 25;rhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT APPROVED protein-coding ENSG00000240771 HGNC:30275 13573 610215 VALIDATED 1603402 ARHGEF26 Rho guanine nucleotide exchange factor (GEF) 26 This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 3 3 3 q25.2 152256672 152396290 + 153838792 153975616 + 154121003 154257827 + 6480464;8554872 12477932;12697679;14702039;15133129;15221005;16344560;21332407;22383878;22824926;23661635;23775076 26084 B3KXG0;Q96DR7 AB073386;ABBA01058871;ABBA01058872;ABBA01058873;AC018452;AC207777;AF415175;AF415176;AK022655;AK022884;AK123040;AK127282;AL117429;AMYH02007938;AMYH02007939;AY552599;BC016628;BC078655;CH471052;DA248533;DB069290;FJ695204;NG_030405;NM_001251962;NM_001251963;NM_015595;XM_005247324;XM_006724998 AAH16628;AAH78655;AAL27001;AAL27002;AAS59842;BAB14159;BAB14292;BAD38637;BAG53860;BAG54472;CAB55918;EAW78764;NP_001238891;NP_001238892;NP_056410;Q96DR7;XP_005247381;XP_006725061 Hs.240845 1338640;1651927;1661080;1698022;1713453;1720105;1771880;2106605;2164068;5037552;5124909 A004B27;D3S2374;D3S3058;D3S3677;D8S2279;RH102541;RH119585;RH123794;RH93982;SGEF__5393;SHGC-30578 CSGEF;DKFZp434D146;HMFN1864;SGEF OTTHUMP00000217165;OTTHUMP00000217166;OTTHUMP00000217167;SH3 domain-containing guanine exchange factor;Src homology 3 domain-containing guanine nucleotide exchange factor;rho guanine nucleotide exchange factor 26 APPROVED protein-coding ENSG00000114790 HGNC:24490 11554 REVIEWED 1320476 ARHGEF17 Rho guanine nucleotide exchange factor (GEF) 17 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity; INVOLVED IN actin cytoskeleton organization; positive regulation of GTPase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic GMP; atrazine 11 11 11 q13.4 70324908 70385824 + 73019663 73080425 + 73306355 73369380 + 1580863;6480464;8554872 11559528;11756498;12071859;12376548;12477932;12787561;15778465;18029348;18677770;19911011;21139048;22911862;23195829;23284291;23443559;8889548;9205841 9828 H0YFZ8;Q96PE2 AB002335;ABBA01017522;AF378754;AI312037;AK074500;AMYH02025086;AMYH02025087;AP000562;AP002761;BC050031;BC137228;BM684780;CH471076;NM_014786;XM_006718752 AAH50031;AAI37229;AAL11991;BAA20795;EAW74891;NP_055601;Q96PE2;XP_006718815 Hs.533719;Hs.573929 1644877;1652016;1782276 RH16016;SHGC-112124;WI-18441 FLJ90019;KIAA0337;P164RHOGEF;TEM4;p164-RhoGEF 164 kDa Rho-specific guanine-nucleotide exchange factor;OTTHUMP00000237515;Rho-specific guanine-nucleotide exchange factor 164 kDa;rho guanine nucleotide exchange factor 17;tumor endothelial marker 4 protein-coding ENSG00000110237 HGNC:21726 10658 VALIDATED 5144507 ARHGEF26-AS1 ARHGEF26 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH silicon dioxide 3 3 3 q25 152159707 152256522 - 153742190 153838999 - 154024401 154121210 - 6480464;8554872 12477932 100507524 ABBA01058873;AC018452;AC068985;AC073908;AC128717;AMYH02007938;BC038431;NR_037901 Hs.370221 1749993;2142228;2147710;2183741 078XF7;SHGC-10223;SHGC-111699;SHGC-57137 APPROVED ncrna ENSG00000243069 HGNC:41048 VALIDATED 6892765 ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28 This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] 5 5 5 q13.2 68817282 69133144 + 72921983 73237818 + 73626158 73941993 + 6480464;8554872 10574993;11058585;11533041;12056414;12477932;14702039;17595347;18029348;19460752;19488899;20200978;20379614;21224360;21502573;22835604;22941224;23286752;23509962;24816145;8889548;9199174 64283 D6RAP0;D6RGZ3;Q8N1W1 AB082529;ABBA01061921;AC008387;AC026702;AC091868;AC093283;AK025470;AK025816;AK094713;AK129761;AK304761;AMYH02011562;AMYH02011563;AMYH02011564;AMYH02011565;AMYH02011566;AMYH02011567;AMYH02011568;AMYH02011569;BC012946;BC157846;BC171850;BG696752;CN478799;CR936816;KF457921;KF457926;NG_017198;NM_001080479;NM_001177693;NM_001244364;XM_005248568;XM_006714669 AAH12946;AAI57847;AAI67854;AAI71850;BAB15141;BAB15243;BAC02707;BAC04405;BAG65516;NP_001073948;NP_001171164;NP_001231293;Q8N1W1;XP_005248625;XP_006714732 Hs.482521 1650784;1656561;1660861;1686602;1709178;1711340;1719435;1725333;1725377;1729950;1755643;1856393;2123568;2144321;5015861;5016478;7185938 A007G27;AFMA189XH9;D10S16;D5S112;DYS397;GDB:434012;RH118984;RH119006;RH123435;RH12825;RH65196;RH77867;RH99129;SHGC-142494;SHGC-84925;SHGC-85752 RGNEF;RIP2;p190RHOGEF 190 kDa guanine nucleotide exchange factor;Rho interacting protein 2;p190-RhoGEF;rho guanine nucleotide exchange factor 28;rho-guanine nucleotide exchange factor protein-coding ENSG00000214944 HGNC:30322 612790 REVIEWED 6481155 ARHGEF3-AS1 ARHGEF3 antisense RNA 1 3 3 56974068 56994882 + 56940040 56960854 + 100874200 ABBA01024429;AC099327;AC099559;AMYH02006855;BX090838;HG495697;NR_046572 Hs.549631 RP11-51O17.1 APPROVED ncrna ENSG00000240198 HGNC:40083 VALIDATED 7243794 ARHGEF34P Rho guanine nucleotide exchange factor (GEF) 34, pseudogene 7 7 q35 143956089 143983096 - 144258996 144286003 - 12477932;15252450;9847074 728377 ABBA01000976;ABBA01153768;AC004889;AC074386;AC245175;BC107871;DQ786236;DQ786285;NR_033942 AAI07872 Hs.744262 1699346 RH103260 pseudo HGNC:38086 VALIDATED 1312226 ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] 1 1 1 q21-q22 128989509 129021228 - 155916431 155953396 - 155946640 155983605 - 6480464;6484113;6907045;8554872 11076863;11230166;11595749;11756498;11912491;12376548;12384139;12477932;12787561;14676191;14702039;14970201;15146197;15302935;15324660;15489336;15827085;15866167;16381901;16565220;16778209;16964243;17314511;17353931;17488622;17643375;18095154;18211802;18287519;19043560;19322201;19596686;19615732;19625450;19667072;19805522;19911011;20089843;20558775;20803552;21139048;21212278;21352810;21513698;21525035;21887730;21906983;22002306;22072711;22226472;22226621;22268729;22298430;22301607;22505724;22513363;22593214;22678362;22898781;22959728;23000965;23022380;23057787;23383273;23432781;23443559;24043311;24255178;24332808;24352660;24525234;2466560;24706358;24816145;9734811;9843499;9857026 9181 Q5VY93;Q92974;V9GY94;V9GYF0;V9GYF5;V9GYG5;V9GYM8;V9GZ14;V9GZ58 AB014551;ABBA01016680;AF486838;AI925929;AK127366;AK295924;AK304548;AL355388;AL512715;AL832538;AMYH02001956;BC020567;BC027722;BT007407;CH471121;CN264153;CN388788;NM_001162383;NM_001162384;NM_004723;U72206;X15610;XM_005245587;XM_005245588;XM_005245589;XM_005245590;XM_005245591;XM_005245592;XM_005245593;XM_005245594;XM_005245595;XM_006711622;XM_006711623;XM_006711624;XM_006711625;XM_006711626 AAC97383;AAH20567;AAL96658;AAP36075;ABM82415;ABM85604;BAA31626;BAG58711;BAH14213;CAA33634;CAC21656;CAL38183;EAW53012;EAW53013;EAW53014;EAW53015;EAW53016;EAW53017;EAW53018;NP_001155855;NP_001155856;NP_004714;Q92974;XP_005245644;XP_005245645;XP_005245646;XP_005245647;XP_005245648;XP_005245649;XP_005245650;XP_005245651;XP_005245652;XP_006711685;XP_006711686;XP_006711687;XP_006711688;XP_006711689 Hs.743352 1684999;1731351;1846700;1851322;2110261;2161367 ARHGEF2_7937;D21S1418;G15881;RH12218;RH70822;RH93673 DKFZp547L106;DKFZp547P1516;FLJ45440;GEF;GEF-H1;GEFH1;KIAA0651;LFP40;P40 OTTHUMP00000018854;OTTHUMP00000018855;OTTHUMP00000018856;OTTHUMP00000018857;Rho/Rac guanine nucleotide exchange factor 2;guanine nucleotide exchange factor H1;microtubule-regulated Rho-GEF;proliferating cell nucleolar antigen p40;rho guanine nucleotide exchange factor 2 APPROVED protein-coding ENSG00000116584 HGNC:682 10458 607560 VALIDATED 3516342 ARHGEF33 Rho guanine nucleotide exchange factor (GEF) 33 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred) 2 2 2 p22.1 38987224 39043310 + 39146504 39202590 + 38919363 38975449 + 14702039;15815621 100271715 A8MVX0;H7C1C9;H7C3S6 ABBA01075022;AC018693;AC019171;AK123375;AMYH02003634;AMYH02003635;AW468668;BX116314;DV080125;DV080126;DV080278;DV080660;DY654603;DY654636;NM_001145451 A8MVX0;NP_001138923 Hs.99841 1694802;1697402;1719037;1719065;1721629;1734850 D2S1598E;G43628;G59825;RH102201;RH123225;RH123836 FLJ41381 DH and coiled-coil domain-containing protein ENSP00000381780;OTTHUMP00000204068;rho guanine nucleotide exchange factor 33 protein-coding ENSG00000214694 HGNC:37252 VALIDATED 1604887 ARHGEF35 Rho guanine nucleotide exchange factor (GEF) 35 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 7 7 7 q35 138516492 138517348 - 143883176 143892791 - 144186083 144195698 - 6480464;8554872 12477932;16344560;19322201;21906983 445328 A5YM69 ABBA01000976;AC004889;AC245175;AK125680;BC136868;BC136878;DA646728;EF560743;NM_001003702 A5YM69;AAI36869;AAI36879;ABQ59053;BAC86243;NP_001003702 Hs.534621 1854569 G27651 ARHGEF5L;CTAGE4;FLJ43692 ARHGEF5-like;OTTHUMP00000212575;Rho guanine nucleotide exchange factor (GEF) 5-like;rho guanine nucleotide exchange factor 35;rho guanine nucleotide exchange factor 5-like protein APPROVED protein-coding ENSG00000213214 HGNC:33846 13476 VALIDATED 1602402 ARHGEF37 Rho guanine nucleotide exchange factor (GEF) 37 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH calcitriol; coumestrol; testosterone 5 5 5 q32 145043054 145096412 + 148961064 149014531 + 149581393 149634968 + 6480464;8554872 12477932;14702039;23377640 389337 A1IGU5;D6RJH4 AB199796;ABBA01026300;ABBA01026301;AC021078;AC022100;AC116360;AK023814;AK123597;AK300355;AK300559;AK316002;AMYH02012448;BC041325;BF508325;BF510234;CH471062;NM_001001669;XM_005268447;XM_005268448;XM_006714784;XM_006714785 A1IGU5;BAC85655;BAF43710;BAG62096;BAG62265;BAH14373;EAW61765;EAW61766;NP_001001669;XP_005268504;XP_005268505;XP_006714847;XP_006714848 Hs.256206 1335371;1677484;1700426;1760647;5015861;7185938 D10S16;D5S812;RH103834;RH69939;SHGC-144191 FLJ41603 OTTHUMP00000224087;rho guanine nucleotide exchange factor 37 APPROVED protein-coding ENSG00000183111 HGNC:34430 13454 VALIDATED 1321712 ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p14.3 56727164 57078931 - 56761446 57113336 - 56727418 57079308 - 6480464;8554872 10873612;11076863;11230166;11256614;11756498;12221096;12376548;12477932;12787561;14702039;15489334;15489336;16236267;16344560;16381901;18499081;19110211;19427924;19471022;19727905;19820697;19911011;20379614;21452313;22139419;22505724;23251661;23263863;24026423;24043828;8125298 50650 B7Z6B2;C9J586;C9J5K8;C9J609;C9JNF2;E7EU49;E9PG37;F8WC29;F8WDB7;H7C4P0;Q9NR81 AB209661;ABBA01024428;ABBA01024429;ABBA01024430;ABBA01024431;ABBA01024432;ABBA01024433;ABBA01024434;ABBA01024435;ABBA01024436;ABBA01024437;ABBA01024438;ABBA01024439;AC097358;AC099327;AC099559;AC099781;AF249744;AF433662;AK024340;AK225688;AK291412;AK293864;AK300045;AK302493;AK308178;AL136832;AMYH02006853;AMYH02006854;AMYH02006855;AMYH02006856;AMYH02006857;AMYH02006858;AX002254;AX775923;BC022249;BC054345;BC068513;BC094748;BC098122;BC098272;BC099715;BC104723;CH471055;DA401228;DC334437;DC334772;NM_001128615;NM_001128616;NM_001289698;NM_019555;XM_005265186;XM_005265187;XM_005265188;XM_005265189 AAF79954;AAH54345;AAH68513;AAH98122;AAH98272;AAH99715;AAI04724;AAP97313;BAB14891;BAD92898;BAF84101;BAH11616;BAH13198;BAH13724;CAB66766;CAE11661;CAL37874;EAW65325;EAW65326;NP_001122087;NP_001122088;NP_001276627;NP_062455;Q9NR81;XP_005265243;XP_005265244;XP_005265245;XP_005265246 Hs.476402 1698034;1723075;1727387;1750475;1755349;1765309;1766617;1784576;1784584;1784606;1848816;1849579;2144254;2166089;2217024 ARHGEF3_3819;D3S2400;D3S3994;D3S4139;G63101;RH102548;RH121889;SHGC-110754;SHGC-111452;SHGC-111779;SHGC-111964;SHGC-142232;SHGC-148804;SHGC-149919;WIAF-1489 DKFZp434F2429;FLJ98126;GEF3;MGC118905;STA3;XPLN 59.8 kDA protein;OTTHUMP00000213598;OTTHUMP00000213599;OTTHUMP00000213600;OTTHUMP00000213602;OTTHUMP00000213603;OTTHUMP00000213612;RhoGEF protein;exchange factor found in platelets and leukemic and neuronal tissues, XPLN;rho guanine nucleotide exchange factor 3 APPROVED protein-coding ENSG00000163947 HGNC:683 12480 612115 REVIEWED 6480965 ARHGEF38-IT1 ARHGEF38 intronic transcript 1 (non-protein coding) 4 4 106482748 106491395 + 105561591 105570238 + 100874374 ABBA01063735;AC004066;AMYH02009852;BX108310;HG497139;NR_046840 Hs.668908 AC004066.5 ncrna HGNC:41483 PREDICTED 1312054 ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013] 2 2 2 q22 124772847 124903056 - 131594489 131804826 + 130836916 131047253 + 1580863;6480464;8554872 10470851;10873612;10947987;11756498;12168954;12376548;12477932;12598901;12787561;15572129;17002498;17588722;17599059;18653540;19525225;19628279;20936779;21788986;22543972;22745667;23941980 50649 A4QPB6;E7EV07;E9PEM0;H0Y451;H0YCT6;Q9NR80;Q9NTG0 AB029035;AB042199;ABBA01019376;ABBA01019377;ABBA01019378;AC009477;AC112786;AC133785;AF249745;AK127124;AL137289;AMYH02004801;AMYH02004802;AMYH02004803;BC036579;BC139742;CH471250;DQ424905;KF456708;KF456713;NM_015320;NM_032995;XM_005263681;XM_005263682;XM_005263683;XM_005263685;XM_005263686;XM_005263687;XM_005263688;XM_005263689;XR_244821 AAF79955;AAI39743;AAI60189;AAX93134;AAY24311;ABD83670;BAA83064;BAB11941;CAB70681;EAW51269;EAW51270;EAW51271;NP_056135;NP_127462;Q9NR80;XP_005263738;XP_005263739;XP_005263740;XP_005263742;XP_005263743;XP_005263744;XP_005263745;XP_005263746 Hs.469935 1705588;1774703;1849883;1849885;2106433;2142272;2170673 A001Y27;ARHGEF4_3818;G16357;G19788;RH47476;SHGC-83902;WI-10324 ASEF;ASEF1;GEF4;STM6 APC-stimulated guanine nucleotide exchange factor;APC-stimulated guanine nucleotide exchange factor 1;OTTHUMP00000162429;OTTHUMP00000203957;OTTHUMP00000203960;OTTHUMP00000232481;rho guanine nucleotide exchange factor 4 APPROVED protein-coding ENSG00000136002 HGNC:684 05559 605216 REVIEWED 1321248 ARHGEF39 Rho guanine nucleotide exchange factor (GEF) 39 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of cell migration; ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; INTERACTS WITH 17beta-estradiol; calcitriol; copper(2+) sulfate 9 9 9 p13.3 35592890 35598827 - 35658872 35675863 - 35658875 35675866 - 737633;6480464;8554872 12477932 14702039;16189514;16344560;21139048;21906983;22327280;22505724;24250222;8125298 84904 Q8N4T4 ABBA01064988;AK001187;AK027548;AK225501;AK225529;AK303513;AL357874;AMYH02019463;AY390225;AY390226;BC033666;BC038673;CH471071;DB109516;NM_032818;XR_242516 AAH33666;AAR01010;AAR01011;BAB55192;BAG64543;EAW58360;EAW58361;EAW58362;EAW58363;NP_116207;Q8N4T4 Hs.534579 5015961;5020948;5037552 D15S1477;D8S2279;G35510 C9orf100;FLJ14642;MGC44886;RP11-331F9.7 OTTHUMP00000021339;OTTHUMP00000021340;OTTHUMP00000021341;rho guanine nucleotide exchange factor 39;vav-like protein C9orf100 APPROVED protein-coding ENSG00000137135 HGNC:25909 12929 VALIDATED 1603216 ARHGEF38 Rho guanine nucleotide exchange factor (GEF) 38 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH pirinixic acid (ortholog); sodium fluoride (ortholog) 4 4 4 q24 103772904 103851995 + 106473704 106602070 + 105552554 105681558 + 6480464 12477932;18519826;19911011;20010835;20332099;20379614;24023788 54848 Q9NXL2 ABBA01063735;AC004066;AC105391;AK000191;AK125951;AMYH02009852;AMYH02009853;BC105695;CH471057;DT932593;KC876860;NM_001242729;NM_017700;XM_006714244;XR_427548 AAI05696;BAA90998;EAX06185;EAX06186;EAX06187;NP_001229658;NP_060170;Q9NXL2;XP_006714307 Hs.585224;Hs.652842;Hs.744739 1755467 SHGC-142334 FLJ20184;FLJ43963 OTTHUMP00000206608;OTTHUMP00000219756;rho guanine nucleotide exchange factor 38 APPROVED protein-coding ENSG00000236699 HGNC:25968 08613 VALIDATED 736143 ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7 Rho GTPases play a fundamental role in numerous cellular processes triggered by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. This protein can induce membrane ruffling. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q34 92614729 92805032 + 111767624 111958081 + 111115277 111305734 + 1580863;6480464;8554872 10330411;10428811;10896954;11157752;11756498;11864573;12006652;12226077;12376548;12473661;12477932;12499396;12626503;12787561;12888525;12888526;12935897;12938929;14505571;14557270;14559906;14702039;15123239;15144186;15182672;15212761;15306850;15324660;15489334;15491607;15649357;15761153;15864311;15975580;16101281;16169070;16228008;16329988;16344560;16356860;16374509;16407834;16492808;16628223;16983070;17081983;17219408;17562871;17652093;18029348;18067320;18160719;18325335;18385518;18445079;18684957;19041750;19118189;19303398;19414484;19448619;19923322;20080968;20395446;20936779;21048939;21102462;21139048;21423176;21706016;21906983;21926430;21963094;22087847;22505724;22588125;22945935;23175185;23288365;23455922;23615439;23740575;24129564;24204828;24792722;24816145;8076819;8590280;8889548;9207241;9659915;9726964 8874 B1ALK7;B1ANY6;B7Z6D9;B7Z6G2;C9JAD7;C9JDI6;E7ENL8;E7EU80;E7EUY6;E9PDQ5;Q14155 AA457036;AB075521;AB177848;AB177849;ABBA01026985;ABBA01026986;ABBA01026987;ABBA01026988;ABBA01026989;AJ844629;AJ844630;AJ844631;AJ844632;AJ844633;AK055476;AK093326;AK095058;AK295472;AK300157;AK300272;AK308897;AL139086;AL353704;AL390754;AL834228;AMYH02028715;BC033905;BC050521;BC060776;BM677392;BX648314;CF121796;CF144155;CH471085;D17055;D63476;DA216264;DB104833;DB180957;NM_001113511;NM_001113512;NM_001113513;NM_003899;NM_145735;XM_005254085;XM_005254086;XM_005254087;XM_005254088;XM_005254089;XM_005254090;XM_005254091;XM_005254092;XM_005254093;XM_005254094;XM_005254095;XM_006719956;XM_006719957;XM_006719958;XM_006719959;XM_006719960 AAH33905;AAH50521;AAH60776;ACE86956;ACE87647;ACE87830;ACT64348;BAA09763;BAD66826;BAD66827;BAE45764;BAH12080;BAH13225;BAH13248;CAD38906;CAH59748;CAH59949;EAX09142;EAX09143;EAX09144;EAX09145;EAX09146;EAX09147;EAX09148;EAX09149;NP_001106983;NP_001106984;NP_001106985;NP_003890;NP_663788;Q14155;XP_005254142;XP_005254143;XP_005254144;XP_005254145;XP_005254146;XP_005254147;XP_005254148;XP_005254149;XP_005254150;XP_005254151;XP_005254152;XP_006720019;XP_006720020;XP_006720021;XP_006720022;XP_006720023 Hs.508738 1685836;1711322;1718347;1737433;1852792;1856245;2106435;2161958;2173057;5020948;5022200 ARHGEF7_3917;D13S1000;D13S1183;G35510;L18426;RH122945;RH25365;RH66156;SGC33424;SHGC-30205;SHGC-84915 BETA-PIX;COOL-1;COOL1;DKFZp686C12170;DKFZp761K1021;KIAA0142;KIAA0412;Nbla10314;P50;P50BP;P85;P85COOL1;P85SPR;PAK3;PIXB OTTHUMP00000018715;OTTHUMP00000018717;OTTHUMP00000018718;OTTHUMP00000178803;OTTHUMP00000215110;OTTHUMP00000215156;OTTHUMP00000215158;PAK-interacting exchange factor beta;SH3 domain-containing proline-rich protein;guanine nucleotide exchange factor 7;rho guanine nucleotide exchange factor 7 APPROVED protein-coding ENSG00000102606 HGNC:15607 05688 605477 REVIEWED 6481181 ARHGEF7-AS1 ARHGEF7 antisense RNA 1 q34 100874226 AL353704;DB508209;NR_046516 Hs.577834 APPROVED ncrna HGNC:39816 VALIDATED 6481199 ARHGEF7-AS2 ARHGEF7 antisense RNA 2 q34 100874238 AL353704;BC043518 Hs.569218 APPROVED ncrna HGNC:40717 6480964 ARHGEF7-IT1 ARHGEF7 intronic transcript 1 (non-protein coding) q34 100874371 AL353704;BC043372 Hs.666495 ncrna HGNC:41408 1343816 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008] X X X q26.3 136111384 136227182 - 135747708 135863503 - 136665549 136781344 - 1580863;1599214;6480464;6907045;7240710;8699517;8554872 11017088 10428811;10523848;10559302;10896954;11337747;11564864;11756498;11864573;11937491;12006652;12376548;12477932;12499396;12787561;12935897;15144186;15242552;15302935;15306850;15324660;15489334;15611136;15649357;15688026;15761153;15772651;16094384;16320026;16374509;16897755;16964243;16983070;17081983;17405911;17620599;18029348;19672789;19911011;19918261;19969308;21900206;22118674;22505724;23455922;24816145;7584026;7584028;7584048;9582122;9659915;9783701 9459 B7Z3C7;Q15052;Q8N4Q3 ABBA01055930;ABBA01055931;ABBA01055932;ABBA01055933;ABBA01055934;ABBA01055935;ABBA01055936;ABBA01055937;ABBA01055938;ABBA01055939;ABBA01055940;ABBA01055941;ABBA01055942;ABBA01055943;ABBA01055944;AF207831;AK129909;AK291742;AK294929;AK295709;AK299861;AL135783;AL683813;AMYH02040581;BC033768;BC039856;BC043505;BE243825;BX537390;CH471150;D13631;D25304;NG_008873;NM_004840;XM_005262499;XM_005262501;XM_006724791 AAG27169;AAH33768;AAH39856;AAH43505;BAA02796;BAA04985;BAF84431;BAH11929;BAH12163;BAH13153;CAD97632;EAW88460;EAW88461;NP_004831;Q15052;XP_005262556;XP_005262558;XP_006724854 Hs.522795 1648712;1652152;1666578;1668687;1776976;1792622;2107851;2160941;5111488 ARHGEF6_7947;G10668;G18212;PMC155158P3;RH17397;RH25247;RH77692;SGC30410;SHGC-31468 COOL2;Cool-2;KIAA0006;MRX46;PIXA OTTHUMP00000024134;OTTHUMP00000024135;OTTHUMP00000024136;PAK-interacting exchange factor alpha;PAK-interacting exchange factor, alpha;Rac/Cdc42 guanine exchange factor (GEF) 6;alpha-PIX;alphaPIX;mental retardation, X-linked 46;rac/Cdc42 guanine nucleotide exchange factor 6;rho guanine nucleotide exchange factor 6 APPROVED protein-coding ENSG00000129675 HGNC:685 02226 300267;300436 REVIEWED 6481062 ARHGEF9-IT1 ARHGEF9 intronic transcript 1 (non-protein coding) q11.1 100874355 AL391277;AW138023;HG512554;NR_046803 Hs.671524 ncrna HGNC:41401 VALIDATED 735723 ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5 Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008] 7 7 7 q35 138733824 138751769 + 144052489 144077725 + 144355341 144380632 + 1580863;6480464;8554872 12006984;12107413;12477932;12853948;14702039;15489334;15681748;15778465;15951569;16964398;18029348;18067320;18444243;19713215;19913121;20628086;21525037;21832049;21906983;21988832;23359676;23535729;23647072;23956138;24126923;24157810;7656213;8134109;9314836 7984 C9J591;H0Y895;Q12774 AACC02000041;ABBA01033541;AC004534;AC245152;AK090570;AK123596;AK160365;BC010046;BC011839;BC014555;BC136661;BF209445;BG831953;BI256663;BX649178;CD674013;CH471146;CR749203;NM_005435;U02082;XM_006716127;XM_006716128 AAA18010;AAC12958;AAH10046;AAH11839;AAH14555;AAI36662;ABM84438;ABM87484;BAD18708;BAG52188;CAH18061;EAL24413;EAW80095;EAW80096;NP_005426;Q12774;XP_006716190;XP_006716191 Hs.334;Hs.534621 1686206;1699346;2155322;2217026 ARHGEF5_3900;RH103260;RH80813;TIM1 DKFZp686N1969;GEF5;P60;TIM;TIM1 OTTHUMP00000212568;OTTHUMP00000212569;OTTHUMP00000212570;ephexin-3;guanine nucleotide regulatory protein TIM;oncogene TIM;p60 TIM;rho guanine nucleotide exchange factor 5;transforming immortalized mammary oncogene APPROVED protein-coding ENSG00000050327 HGNC:13209 02932 600888 REVIEWED 1348513 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] X X X q11.1 63201689 63352277 - 62854847 63005426 - 63634967 63785546 - 6480464;7240710;8554872;8699517 10559246;10607391;11727829;11756498;12376548;12477932;12787561;15215304;15342556;15489334;15772651;16344560;18208356;18615734;19911011;20301437;20622020;20936779;21633362;21807943;22033413;22745667;22778260;24297911;9455477 23229 B1AMR3;B1AMR4;B4DGQ8;O43307 AB007884;ABBA01066807;ABBA01066808;ABBA01066809;ABBA01066810;ABBA01066811;ABBA01066812;ABBA01066813;ABBA01066814;ABBA01066815;ABBA01066816;ABBA01066817;ABBA01066818;ABBA01066819;ABBA01066820;ABBA01066821;ABBA01066822;ABBA01066823;AK289993;AK294721;AK295033;AK295178;AL355142;AL391277;AL451106;AL832116;AMYH02039596;BC018106;BC043497;BC046138;BC056892;BC117406;BP270451;CH471132;DB227223;NG_016975;NM_001173479;NM_001173480;NM_015185;XM_005262249;XM_005262250;XM_005262251;XM_005262252;XM_005262253;XM_006724636;XM_006724637 AAI17407;ADR83209;BAA24854;BAF82682;BAG57869;BAG58088;BAG58186;EAX05416;EAX05417;EAX05418;NP_001166950;NP_001166951;NP_056000;O43307;XP_005262306;XP_005262307;XP_005262308;XP_005262309;XP_005262310;XP_006724699;XP_006724700 Hs.54697 1682932;2125341;2162110 B324ZC5;DXS7000E;DXS7485 EIEE8;HPEM-2;KIAA0424;PEM-2;PEM2 OTTHUMP00000023424;OTTHUMP00000023425;OTTHUMP00000023427;PEM-2 homolog;collybistin;hPEM-2 collybistin;rac/Cdc42 guanine nucleotide exchange factor 9;rho guanine nucleotide exchange factor 9 APPROVED protein-coding ENSG00000131089 HGNC:14561 02337 300429;300607 REVIEWED 1603998 ARHGEF40 Rho guanine nucleotide exchange factor (GEF) 40 This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014] 14 14 14 q11.2 1399096 1418597 + 21538419 21558407 + 21070260 21090248 + 6480464 12477932;12693554;14702039;16143467;16169070;21139048;21832049;21890473;21906983;21963094;21987572;23000965;24639526 55701 G3V3N2;G3V485;G3V5C1;Q8TER5 ABBA01061239;AK001219;AK024463;AK074057;AK126755;AL137291;AL161668;AMYH02028827;BC000084;BC009992;BC142692;BC144317;BC151212;BF339938;BQ447317;BX248768;CH471078;HY010070;HY277017;NG_034001;NM_001278529;NM_001278530;NM_018071;T97121;XM_005267844 AAH00084;AAI42693;BAA91563;BAB15753;BAB84883;CAB70682;CAD66575;EAW66410;EAW66411;EAW66412;EAW66413;EAW66414;EAW66415;EAW66416;NP_001265458;NP_001265459;NP_060541;Q8TER5;XP_005267901 Hs.35125 1335484;1647366;1767733;1850019;1853000;2121138;2191765 A002S30;D14S1070;G27462;MARC_7201-7202:996687628:3;RH70031;RH70501;WI-11857 FLJ10357;SOLO OTTHUMP00000245893;rho guanine nucleotide exchange factor 40 APPROVED protein-coding ENSG00000165801 HGNC:25516 13335 610018 REVIEWED 1321437 ARID1A AT rich interactive domain 1A (SWI-like) This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p35.3 25419777 25505606 + 27022522 27108601 + 26696031 26782110 + 1580863;6480464;8694154;8699517;9495920;7240710;8554872 21358755;23355908 10757798;11018012;11073988;11078522;11159203;11318604;11726552;11734557;11780067;11784859;11988099;12200431;12477932;12665591;12672490;14559996;14702039;14722072;14729568;15170388;15382044;15640446;16055720;16230384;16287714;16710414;16940996;17081983;17255939;17363140;17492758;17878164;18003620;18029348;18086889;18809673;18854154;19322201;19454010;19486893;19505873;19609353;19650111;20086098;20305087;20360068;20400511;20460684;20599239;20826764;20942669;21139048;21145461;21412130;21532573;21889920;21890473;21892209;21900401;22009941;22037554;22101352;22157930;22193641;22274316;22301703;22426308;22484628;22586326;22653341;22808142;22910690;22915242;22939629;22939958;22976498;22990118;23030592;23080032;23097632;23202128;23232571;23318448;23349767;23416164;23427874;23524907;23556151;23650517;23667531;23702729;23887303;24036443;24076775;24185509;24241536;24255178;24293408;24382590;24430365;24435047;24457600;24562383;24566899;24767857;24788099;24793973;24816145;24925223;8125298;8804307;8895581;9434167;9584200;9630625;9845365 8289 E9PQW6;H0Y488;H0YCU6;H0YEW5;O14497;Q96SM7 AB001895;AB024075;AB210022;ABBA01034925;AF217506;AF219114;AF231056;AF265208;AF268913;AF521670;AK027442;AK027467;AK027655;AK074940;AK223275;AK308363;AL034380;AL512408;AMYH02000573;AMYH02000574;AMYH02000575;BC112895;CH471059;NG_029965;NM_006015;NM_139135 AAF67617;AAF75765;AAG17549;AAG33967;AAI12896;AAK54505;AAN03446;BAA23269;BAA83073;BAB55114;BAB55132;BAB55270;BAC11306;BAD96995;BAE06104;EAX07793;EAX07794;EAX07795;EAX07796;EAX07797;NP_006006;NP_624361;O14497 Hs.468972 1733078;1853307;1855057;2158238;2175441;2189439;2190943 D1S1417;D1S2243;HSC27A052;MARC_11851-11852:1029349291:1;MARC_6181-6182:992006984:1;SHGC-74444;SHGC-74487 B120;BAF250;BAF250a;BM029;C1orf4;ELD;MRD14;OSA1;P270;SMARCF1;hELD;hOSA1 ARID domain-containing protein 1A;AT-rich interactive domain-containing protein 1A;BRG1-associated factor 250;BRG1-associated factor 250a;OSA1 nuclear protein;OTTHUMP00000004117;OTTHUMP00000004118;OTTHUMP00000004119;SWI-like protein;SWI/SNF complex protein p270;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1;SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1;brain protein 120;chromatin remodeling factor p250;osa homolog 1 APPROVED protein-coding ENSG00000117713 HGNC:11110 04319 603024;614607 REVIEWED 1313245 ARID3A AT rich interactive domain 3A (BRIGHT-like) This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 858387 905149 + 925733 972816 + 925733 972816 + 1580863;6480464 10838570;11812999;12136662;12193717;12477932;12692263;15017387;15057824;15203319;16738337;17081983;17386101;18029348;18583319;19214191;19322201;19471022;20379614;20455271;20548946;20680960;21248039;21693764;21832049;22010578;22172947;22302879;22469780;22990118;23667531;24816145;9722953;9780002 1820 K7EJ04;Q99856 ABBA01002609;ABBA01002610;ABBA01002611;ABBA01002612;ABBA01002613;ABBA01002614;AC005379;AC005391;AF039844;AF039850;AMYH02035129;AMYH02035130;AMYH02035131;AY152547;AY845638;BC007077;BC033163;BC060828;CH471139;NM_005224;U88047;XM_005259512;XM_005259513;XM_005259514;XM_005259515 AAC28499;AAC28918;AAC32888;AAC69994;AAH33163;AAH60828;AAN74028;AAW30734;ABZ92420;EAW69580;NP_005215;Q99856;XP_005259569;XP_005259570;XP_005259571;XP_005259572 Hs.501296 1791119 REU1926 BRIGHT;DRIL1;DRIL3;E2FBP1 ARID domain-containing 3A;ARID domain-containing protein 3A;AT-rich interactive domain-containing protein 3A;B-cell regulator of IgH transcription;E2F-binding protein 1;at rich interactive domain 3a (bright- like);dead ringer-like 1;dead ringer-like protein 1 APPROVED protein-coding HGNC:3031 10343 603265 REVIEWED 1322383 ARID2 AT rich interactive domain 2 (ARID, RFX-like) ARID2 is a subunit of the PBAF chromatin-remodeling complex (see BAF180; MIM 606083), which facilitates ligand-dependent transcriptional activation by nuclear receptors (Yan et al., 2005 [PubMed 15985610]).[supplied by OMIM, Mar 2008] 12 12 12 q12 44920557 45099159 + 46123494 46301820 + 45729691 45908037 + 6480464;8694154;9495920;8554872 21358755;23355908 10997877;12477932;12672490;14702039;15060132;15146197;15159402;15489334;15640446;15922553;15985610;16303743;16782067;17643375;18809673;19505873;19596686;19668339;20130577;20305087;20360068;20599239;20936779;21139048;21549307;21822264;21890473;22095441;22140357;22505724;23047306;24382590;8895581 196528 F8VWP4;F8W108;F8WCU9;Q68CP9 AB046777;ABBA01031447;ABBA01031448;ABBA01031449;ABBA01031450;ABBA01031451;ABBA01031452;AC008124;AC009464;AC009777;AK027617;AK027718;AK055181;AK075385;AK127872;AL832200;AMYH02026403;AY727870;BC018661;BC038726;BC064625;BC090062;BX537879;BX648152;BX649133;CH471111;CN419675;CR749833;DQ096628;KF455640;NM_152641;XM_006719272;XM_006719273 AAH18661;AAH38726;AAH90062;AAI56212;AAI72461;AAU20329;AAZ74794;BAB13383;BAB55236;BAB55320;BAC11585;BAC87171;CAD91164;CAD97878;CAH18689;EAW57888;EAW57889;EAW57890;EAW57891;NP_689854;Q68CP9;XP_006719335;XP_006719336 Hs.317304 1661696;1663646;1675171;1705768;1712420;1712422;1712426;1712458;1769663;2174785;2191427;2217028;5094016 A010A40;ARID2_3730;G33057;G54245;G54246;G54248;G54266;MARC_21821-21822:1025098890:1;RH69395;SHGC-78670;WI-13379;WI-14321;WI-16568 BAF200;DKFZp686G052;DKFZp779P0222;FLJ30619;KIAA1557;p200 ARID domain-containing protein 2;AT-rich interactive domain-containing protein 2;BRG1-associated factor 200;OTTHUMP00000197509;OTTHUMP00000197510;zinc finger protein with activation potential;zipzap;zipzap/p200 APPROVED protein-coding ENSG00000189079 HGNC:18037 16505 609539 VALIDATED 1314897 ARID3B AT rich interactive domain 3B (BRIGHT-like) This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] 15 15 15 q24 51781307 51840407 + 74833518 74890472 + 74541177 74598131 + 6480464;8554872 10446990;10838570;12477932;17643375;19430483;19881956;20211142;20379614;21044950;21139048;21832049;22307404;22751132;22860069;23667531;24704276 10620 H3BQ92;Q8IVW6 AB208830;ABBA01060495;ABBA01060496;AC100835;AF116846;AK298716;AK302034;AL137417;AMYH02030792;AMYH02030793;AMYH02030794;AMYH02030795;BC041792;BC045545;CH471136;DB455943;NM_006465;XM_005254129 AAD09133;AAH41792;BAD92067;BAG60872;BAG63430;EAW99327;EAW99328;NP_006456;Q8IVW6;XP_005254186 Hs.655532 1648294;1753989;1848891;2107855;2152584;7185146 ARID3B_7977;D15S1320;L17911;RH44782;SHGC-132023 BDP;DRIL2 ARID domain-containing protein 3B;AT rich interactive domain 3B (BRIGHT- like);AT-rich interactive domain-containing protein 3B;OTTHUMP00000180679;bright and dead ringer protein;bright-like protein APPROVED protein-coding ENSG00000179361 HGNC:14350 09806 612457 REVIEWED 1316702 ARID1B AT rich interactive domain 1B (SWI1-like) This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2012] 6 6 6 q25.1 157833548 158266432 + 157098980 157531913 + 156777846 157210779 + 1302474;6480464;8694154;8699517;9587762;9495920;7240710;8554872 14633620;17489020;21358755;23355908 10078207;10574462;11078522;11734557;11988099;12200431;12477932;12665591;12672490;14574404;14702039;14982958;15170388;15231748;16230384;16751102;16952470;17000644;17255939;18029348;19176441;19336002;20086098;20305087;20360068;20379614;20602751;20978832;21118156;21139048;21145461;21294900;21448237;21801163;21890473;22158540;22405089;22426308;22426309;22939629;23000965;23202128;23275444;23419831;23556151;23660946;23834954;24068962;24255178;24366360;24382590;24562383;24788099;8889548;8896557;9804814 57492 H0Y2R3;H0Y3S9;H0Y7H8;Q8NFD5 AB033061;ABBA01025550;ABBA01025551;ABBA01025552;ABBA01025553;ABBA01025554;ABBA01025555;ABBA01025556;ABBA01025557;AF253515;AF259792;AF468300;AF521671;AJ001216;AK000921;AK025945;AK074180;AK302356;AL049820;AL136091;AL162578;AL355297;AL591545;AMYH02014814;AMYH02014815;AMYH02014816;AMYH02014817;AMYH02014818;AMYH02014819;AMYH02014820;AMYH02014821;AMYH02014822;BC009543;BU733862;CB240584;CH471051;KF458328;KF458335;NG_032093;NM_017519;NM_020732;XM_005267069;XM_006715523;XM_006715524;XM_006715525;XM_006715526;XM_006715527;Y08266 AAG36928;AAL76077;AAN03447;AAN70985;BAA86549;BAA91426;BAB85006;BAG63682;CAA69592;EAW47678;EAW47679;EAW47680;EAW47681;EAW47682;EAW47683;EAW47684;EAW47685;NP_059989;NP_065783;Q8NFD5;XP_005267126;XP_006715586;XP_006715587;XP_006715588;XP_006715589;XP_006715590 Hs.291587;Hs.744461 1660313;1664702;1668650;1675301;1715025;1715129;1719177;1735600;1769301;1774066;1775780;1848004;1853110;1855242;2107853;2116724;2123645;2128012;2141557;2145868;2176795;2177019;2180639;2186379;5093336;5123356 A009L35;ARID1B_8076;D6S1163E;D6S1878;G32659;G34995;RH119516;RH120849;RH123307;RH16172;RH46034;RH46651;RH46824;RH46858;RH63714;RH68694;RH68798;RH68946;SGC34328;SGC36816;SGC36953;SHGC-30226;SHGC-35096;STS-D20286;STS-T31821;WI-16864 6A3-5;BAF250b;BRIGHT;DAN15;ELD/OSA1;KIAA1235;MRD12;OSA2;RP11-419L10.1;p250R ARID domain-containing protein 1B;AT-rich interactive domain-containing protein 1B;BRG1-associated factor 250b;BRG1-binding protein ELD/OSA1;ELD (eyelid)/OSA protein;OTTHUMP00000017476;OTTHUMP00000017479;OTTHUMP00000223605 APPROVED protein-coding ENSG00000049618 HGNC:18040 10660 614556;614562 REVIEWED 6481048 ARID4B-IT1 ARID4B intronic transcript 1 (non-protein coding) q42.3 100874336 AL133418;H30066 ncrna HGNC:41407 1342507 ARID3C AT rich interactive domain 3C (BRIGHT-like) This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 34552959 34559515 - 34621455 34628011 - 34621458 34628014 - 6480464;8554872 10838570;11959810;15922553;21955986 138715 A6NKF2 ABBA01065009;AL450283;AMYH02019450;CH471071;NM_001017363 A6NKF2;AAI48444;EAW58438;NP_001017363 Hs.534549 ARID domain-containing protein 3C;AT-rich interactive domain-containing protein 3C;Brightlike;OTTHUMP00000211880;at rich interactive domain 3c (bright- like) APPROVED protein-coding ENSG00000205143 HGNC:21209 18550 REVIEWED 1604359 ARID4B AT rich interactive domain 4B (RBP1-like) This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 q42.1-q43 208572869 208734285 - 235330210 235491532 - 235166895 235328217 - 6480464;8554872 10737800;11481388;11790298;12446740;12477932;12724404;14702039;15247124;15302935;15489334;16387653;16710414;17043311;17081983;18193082;19471022;20195357;20347265;20379614;20936779;21139048;21693764;22693453;23752268;24816145 51742 H0Y7Y8;H7C5R6;Q4LE39;X6RCR8 AB210032;ABBA01033120;ABBA01033121;ABBA01033122;ABBA01033123;ABBA01033124;ABBA01033125;ABBA01033126;AF083249;AF208045;AF214114;AF227899;AI356277;AI431949;AK023144;AK057552;AL133418;AL133594;AL356781;AL391994;AMYH02002939;AMYH02002940;AMYH02002941;AMYH02002942;AY220790;BC017800;BC048959;BC062536;BC104632;BC130418;BC143719;BF899710;BX648820;CH471098;NG_029484;NM_001206794;NM_016374;NM_031371;XM_005273160;XM_006711781 AAD41239;AAF23433;AAF28341;AAF36964;AAH17800;AAH48959;AAH62536;AAI04633;AAI30419;AAO63590;BAB14428;BAE06114;CAB63731;CAI46047;EAW70008;EAW70009;EAW70010;EAW70011;EAW70012;EAW70013;EAW70014;EAW70015;NP_001193723;NP_057458;NP_112739;Q4LE39;XP_005273217;XP_006711844 Hs.575782 1339695;1779099;1848810;2176053;5021872;5022200;5022651;5037552 D11S2921;D1S2649;D1S3341;D8S2279;HSC1CA092;L18426;SHGC-76545;sY3084 BCAA;BRCAA1;DKFZp313M2420;MGC163290;RBBP1L1;RBP1L1;SAP180 180 kDa Sin3-associated polypeptide;ARID domain-containing protein 4B;AT-rich interactive domain-containing protein 4B;OTTHUMP00000037596;OTTHUMP00000037599;OTTHUMP00000037601;OTTHUMP00000197527;RBP1-like protein;Rb-binding protein homolog;SIN3A-associated protein 180;breast cancer-associated antigen 1;breast cancer-associated antigen BRCAA1;breast carcinoma-associated antigen;histone deacetylase complex subunit SAP180;retinoblastoma binding protein 1-like 1;retinoblastoma-binding protein 1-like 1;sin3-associated polypeptide p180 APPROVED protein-coding ENSG00000054267 HGNC:15550 10661 609696 REVIEWED 1322287 ARID5A AT rich interactive domain 5A (MRF1-like) Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008] 2 2 2 q11.2 91643676 91659583 + 97202464 97218375 + 96536727 96552634 + 6480464 12477932;12975309;15640446;15941852;16713569;18029348;18854154;21184583;21890473;22797925;23000965;23275563;24782182;8649988;8889548 10865 C9J1Q0;F6Q9D3;Q03989 ABBA01036588;ABBA01036589;AC013270;AK300173;AK304566;AK307768;AMYH02004335;AY358167;BC032488;BC047390;BC067301;BQ073595;BU734273;BX648918;CH471207;M62324;NM_212481;XM_005263856;XM_005263860;XM_005263861;XM_006712202;XM_006712203 AAA36325;AAI67773;AAQ88534;BAG61953;BAH14217;EAW71359;EAW71360;EAW71361;EAW71362;EAW71363;EAW71364;EAW71365;EAW71366;NP_997646;Q03989;XP_005263913;XP_005263917;XP_005263918;XP_006712265;XP_006712266 Hs.920 1773888;2135741 D2S2868;G09483 MRF-1;MRF1;RP11-363D14 ARID domain-containing protein 5A;AT-rich interactive domain-containing protein 5A;OTTHUMP00000207481;OTTHUMP00000207483;RFVG5814;modulator recognition factor 1;modulator recognition factor I APPROVED protein-coding ENSG00000196843 HGNC:17361 12481 611583 VALIDATED 1316636 ARID4A AT rich interactive domain 4A (RBP1-like) The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008] 14 14 14 q23.1 38815183 38890415 + 58765103 58840713 + 58298385 58373995 + 1580863;6480464;8554872 10321733;10369074;10490602;11283269;12477932;12724404;14581478;15302935;15640446;16344560;16387653;16873370;16919237;17043311;18211900;1857421;19471022;21148318;21693764;22118674;22247551;22732186;23752268;24379399;24654937;25027693;8414517;8455946;9660940 5926 C9J1W3;C9JIF4;F8WAR5;H7C485;P29374;Q05CG0 ABBA01018256;ABBA01018257;AF086075;AK307520;AK307972;AL132989;AL139021;AMYH02029277;AMYH02029278;AMYH02029279;BC026230;BX279740;CH471061;DB218466;KF455911;NM_002892;NM_023000;NM_023001;S57153;S57160;S57162;S66427;XM_005267964;XM_005267965 AAB25833;AAB25834;AAB25835;AAB28543;AAH26230;AAI72363;EAW80727;EAW80728;EAW80729;EAW80730;EAW80731;EAW80732;NP_002883;NP_075376;NP_075377;P29374;XP_005268021;XP_005268022 Hs.161000 1754449;1854745;2127283;2130027;2167839;2177449;2217030;5094000;5117014;5120121 A010A22;ARID4A_3852;AW466107;D14S1330;G33047;G35710;GDB:196872;SHGC-132583;SHGC-36294;SHGC-36874 RBBP-1;RBBP1;RBP-1;RBP1 ARID domain-containing protein 4A;AT-rich interactive domain-containing protein 4A;OTTHUMP00000179023;OTTHUMP00000179024;OTTHUMP00000197517;retinoblastoma binding protein 1;retinoblastoma-binding protein 1 APPROVED protein-coding ENSG00000032219 HGNC:9885 01575 180201 REVIEWED 1323345 ARID5B AT rich interactive domain 5B (MRF1-like) This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 10 10 10 q21.2 56927884 57123747 + 63661013 63856707 + 61901254 62096948 + 6480464 10329386;11478881;11483573;11959810;12477932;14702039;15164054;15489334;15640446;16009940;16344560;17000644;17081983;17407261;18612189;19322201;19430483;19684603;19684604;20042726;20054350;20460642;21145461;21532585;21693764;21889209;21890642;21906983;21963094;22291082;22446963;22660188;22922568;22971728;23016962;23022100;23118423;23273568;23291589;23382691;23512250;23608171;23667531;23692655;23752268;23836053;23975371;23996088;24013273;24200646;24390342;24497567;24561991;24712521;24816145;9808040 84159 Q14865 ABBA01019481;ABBA01019482;ABBA01019483;AC067742;AI149153;AK024803;AK123882;AK296921;AL049471;AL671972;AL731669;AMYH02023185;AMYH02023186;AMYH02023187;AMYH02023188;AMYH02023189;AMYH02023190;BC015120;BC017404;BC036831;BC056680;BC066345;BC107800;BG615173;BX352258;BX472565;BX537690;BX641020;BX648835;CH471083;DB014195;M73837;NG_030027;NM_001244638;NM_032199 AAA59870;AAH15120;AAH36831;AAH66345;AAI07801;AAI52737;AAI56571;BAB15012;BAG59475;CAD97814;CAE46013;EAW54226;EAW54227;EAW54228;NP_001231567;NP_115575;Q14865 Hs.535297 1338119;1656811;1668246;1695524;1726899;1752653;1771234;1771831;1853168;2109059;2117448;2133017 A003N19;AFM234WC5;ARID5B_3079;B353XB9;D10S609;G62692;RH47625;RH48313;SHGC-106526;SHGC-16154;SHGC-68542;STS-AA009652 DESRT;FLJ21150;FLJ41888;MRF-2;MRF2;RP11-341A19.1 ARID domain-containing protein 5B;AT-rich interactive domain-containing protein 5B;MRF1-like protein;OTTHUMP00000019668;modulator recognition factor 2 (MRF2) APPROVED protein-coding ENSG00000150347 HGNC:17362 608538 REVIEWED 2298738 ARIH2OS ariadne homolog 2 opposite strand FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; formaldehyde; methyl methanesulfonate 3 3 3 p21.31 48910982 48912579 - 48955221 48956818 - 48917788 48919385 - 6480464 14702039;16344560 646450 Q8N7S6 ABBA01024624;AC134028;AK097724;AMYH02006731;DA461567;NM_001123040 BAC05151;NP_001116512;Q8N7S6 Hs.720727 5014051;5021872;5022651 D11S2921;D8S2278;sY3084 C3orf71 OTTHUMP00000210387;ariadne-2 homolog opposite strand protein;hypothetical protein LOC646450;uncharacterized protein ARIH2OS;uncharacterized protein C3orf71 APPROVED protein-coding ENSG00000221883 HGNC:34425 PROVISIONAL 1314113 ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN developmental cell growth; hematopoietic stem cell proliferation; protein K48-linked ubiquitination; FOUND IN cytoplasm; nucleus; INTERACTS WITH arsane; arsenic atom; cyclosporin A 3 3 3 p21 48912042 48977617 + 48956265 49022974 + 48918832 48985541 + 1580863;6480464 10422847;10880484;10931946;12234920;12477932;14702039;15146197;15489334;15545318;16118314;16169070;16189514;17043677;17646546;19340006;19549727;20639865;21139048;21454682;21890473;21906983;21963094;21988832;22037423;22053931;22493164;22819825;22863883;22940738;23000965;23022380;23383273;24058416;24076655;24816145;8125298 10425 C9JAU2;C9JBC5;C9JCL4;C9JZ71;F8WCS4;O95376;Q6IBL8 AB208857;ABBA01024621;ABBA01024622;ABBA01024623;ABBA01024624;AC134028;AC137630;AF099149;AF099150;AF099151;AF099152;AF099153;AF113677;AF183427;AJ130978;AK001800;AK091240;AK223550;AK307694;AK313434;AL110187;AL162034;AMYH02006731;AMYH02006732;AMYH02006733;AMYH02006734;BC000422;CH471055;CN399800;CR456785;NM_006321;XM_005264798;XM_006712924;XM_006712925;XM_006712926;XM_006712927;XM_006712928;XM_006712929 AAC82469;AAG09696;AAH00422;ABM85944;BAD92094;BAD97270;BAG36225;BAG50977;CAA10276;CAG33066;EAW64930;EAW64931;EAW64932;EAW64933;NP_006312;O95376;XP_005264855;XP_006712987;XP_006712988;XP_006712989;XP_006712990;XP_006712991;XP_006712992 Hs.633601 1646592;1646594;1650578;1652468;1676454;1687189;1697632;1740139;1855306;2149781;2164136;2186232;5019649 A006E46;A006J35;D3S3505;D3S3893;G20880;G32336;RH102329;RH16356;RH80209;RH80613;SGC35142;SHGC-76940;WI-11545 ARI-2;ARI2;FLJ10938;FLJ33921;TRIAD1 E3 ubiquitin-protein ligase ARIH2;OTTHUMP00000164828;OTTHUMP00000210388;all-trans retinoic acid inducible RING finger;ariadne homolog 2;protein ariadne-2 homolog APPROVED protein-coding ENSG00000177479 HGNC:690 09286 605615 PROVISIONAL 1317726 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 ENCODES a protein that exhibits ubiquitin protein ligase binding; ubiquitin-protein transferase activity; zinc ion binding; INVOLVED IN protein ubiquitination; FOUND IN cytoplasm; INTERACTS WITH atrazine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 15 15 15 q24 49652768 49763614 + 72766667 72878904 + 72474282 72586563 + 1580863;6480464 10521492;10880484;10926929;11124525;11124703;11278816;12234920;12477932;14623119;15236971;15489334;15963499;18654987;18781797;19615732;21139048;21145461;21532592;21590270;21890473;21906983;21963094;21987572;22037423;22268729;22505724;22863883;23000965;23022380;23059369;23383273;23707686;24023840;24058416;24076655;24816145;25015289 25820 H3BNB9;H3BSK4;H3BUS0;Q9Y4X5 AB014774;AB209432;ABBA01038725;ABBA01038726;ABBA01038727;AC079322;AC100827;AF072832;AJ009771;AJ130976;AJ243190;AK000336;AK312715;AL117650;AMYH02030758;AMYH02030759;AMYH02030760;AMYH02030761;BC051877;BX641117;CH471082;CQ834334;NM_005744;XM_006720460 AAD28088;AAH51877;BAB19786;BAD92669;BAG35590;CAA08817;CAA10274;CAB45870;CAH05382;EAW77907;EAW77908;NP_005735;Q9Y4X5;XP_006720523 Hs.268787 1646083;1677864;1739275;1795398;1850906;1856906;2138783;2148216 A004P07;ARIH1_702;D2S1933E;RH47216;RH77925;RH93460;SHGC-34211;SHGC-36787 ARI;ARI-1;DKFZp686O13120;FLJ20329;FLJ93118;H7-AP2;HARI;MOP-6;UBCH7BP E3 ubiquitin-protein ligase ARIH1;HHARI;OTTHUMP00000164679;ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1;ariadne, Drosophila, homolog of;monocyte protein 6;protein ariadne-1 homolog;ubcH7-binding protein;ubcM4-interacting protein;ubiquitin-conjugating enzyme E2-binding protein 1 APPROVED protein-coding HGNC:689 05730 605624 VALIDATED 2289744 ARIH2P1 ariadne homolog 2 pseudogene 1 18 18 18 q12.1 23042743 23044624 + 26231494 26233375 + 28651530 28653411 + 390844 ABBA01022547;AC027141;AMYH02034477;NG_009482 1652468;2164136;5019649 A006E46;G32336;SGC35142 ARIH2P APPROVED pseudo HGNC:31732 INFERRED 1344087 ARL10 ADP-ribosylation factor-like 10 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); FOUND IN intracellular (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 5 5 5 q35.2 172701905 172709953 - 175792477 175800934 + 176365474 176373931 + 1580863;6480464 12477932;14702039;15033445;21890473;24250222 285598 H0Y8L6;H0Y9R6;Q6PCE2;Q8N8L6 ABBA01033501;AC138956;AMYH02012812;BC059361;CH471195;DR001833;NM_173664;XM_005265890;XM_005265891 AAH59361;EAW85086;NP_775935;Q8N8L6;XP_005265947;XP_005265948 Hs.424552 1688424 RH92676 ARL10A;FLJ39249 ADP-ribosylation factor-like 10A;ADP-ribosylation factor-like membrane-associated protein;ADP-ribosylation factor-like protein 10;OTTHUMP00000161237 protein-coding HGNC:22042 12482 VALIDATED 1317649 ARL11 ADP-ribosylation factor-like 11 This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [provided by RefSeq, May 2010] 13 13 13 q14.2 31257372 31262945 + 50202435 50208008 + 49628299 49633872 + 737633;1580863;6480464 12477932 14702039;15057823;15489334;15843669;16189514;16353159;16488076;16570116;16581122;16646072;17391501;17449901;17699778;18337727;18375053;19060904;19509554;20067102;20358297;21890473;22028916;23000965;23412934;23940804 115761 Q969Q4 ABBA01051020;AF441378;AK091249;AL135901;AMYH02028012;BC013150;CH471075;NG_021342;NM_138450;XM_005266253 AAH13150;AAP19650;BAC03621;EAX08831;NP_612459;Q969Q4;XP_005266310 Hs.558599 5022200;5022578 D1S1423;L18426 ARLTS1;FLJ33930;MGC17429 ADP-ribosylation factor-like protein 11;ADP-ribosylation factor-like tumor suppressor protein 1;OTTHUMP00000018420 APPROVED protein-coding ENSG00000152213 HGNC:24046 12484 609351 REVIEWED 1343034 ARL13A ADP-ribosylation factor-like 13A ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); FOUND IN intracellular (inferred); INTERACTS WITH indole-3-methanol (ortholog); N-acetyl-L-cysteine (ortholog); N-nitrosodiethylamine (ortholog) X X X q22.1 100743491 100764612 + 100224697 100245820 + 100969708 100991089 + 6480464 12477932;23128241 392509 H0YH34;J3KPB3;Q5H913 ABBA01044923;ABBA01064108;ABBA01064109;ABBA01064110;AK301813;AMYH02040061;AW118931;BC140808;BC144603;CD300373;CH471115;DB727708;DC426731;DY655154;NM_001162491;NR_103708;NR_103709;XM_006724648;XM_006724649;XM_006724650;Z97985 AAI40809;AAI44604;BAG63262;EAX02829;NP_001155963;Q5H913;XP_006724711;XP_006724712;XP_006724713 Hs.147237 2125106 DXS7529 ARL13;dJ341D10.2 ADP-ribosylation factor-like 13;ADP-ribosylation factor-like protein 13A;OTTHUMP00000023662;OTTHUMP00000226635 protein-coding ENSG00000174225 HGNC:31709 18526 VALIDATED 732961 ARL1 ADP-ribosylation factor-like 1 The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] 12 12 12 q23.2 101452210 101466869 - 101786894 101802192 - 101393116 101408400 - 1580863;6480464 10318838;11076863;11230166;11256614;11303027;11792819;12477932;12972563;14580338;14702039;15269279;15489334;15489336;16381901;17127620;17314511;17342744;17353931;19224922;19703403;21139048;21145461;21239483;21890473;21906983;22678362;22679020;23125841;23345439;23956138;24337577;24457600;7814376;8798635;9624189 400 B4DZG7;F8VP63;F8VP99;F8VYN9;F8W1Z8;P40616 ABBA01053244;AC063948;AF493887;AI802608;AK001489;AK299062;AK301701;AK302911;AK311793;AL701988;AMYH02027071;BC007000;BT007260;BX537387;CD686919;CH471054;CK822904;DC343685;L28997;NM_001177;NM_001301068;XM_005268869 AAC37567;AAH07000;AAM12601;AAP35924;ABM83974;ABM87294;BAG34736;BAG61128;BAG63173;BAG64079;CAD97629;CAL38716;EAW97657;EAW97658;EAW97659;EAW97660;NP_001168;NP_001287997;P40616;XP_005268926 Hs.372616;Hs.732900 1680984;1683811;2119862;2176880 D12S1419;RH93493;RH98475;STS-N98729 ARFL1 ADP-ribosylation factor-like protein 1;OTTHUMP00000243366;OTTHUMP00000243367;OTTHUMP00000243368;OTTHUMP00000243370;OTTHUMP00000243371 APPROVED protein-coding ENSG00000120805 HGNC:692 04574 603425 REVIEWED 1349356 ARL13B ADP-ribosylation factor-like 13B This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 3 3 3 q11.1 92082477 92158408 + 93698983 93774522 + 93980139 94055678 + 6480464;7240710;8554872;8699517 12477932;15314642;15489334;17646400;18554500;18674751;20231383;20301500;20301743;21068128;21139048;21906983;23000965;23128241;23150559;23153492;23223633;23548655;24168557;24250222;24339792 200894 B4DRI8;C9J887;F8W837;F8WAY0;F8WBR2;Q3SXY8 AA775026;ABBA01026969;ABBA01026970;ABBA01026971;AC117474;AC130896;AC245469;AK296994;AK299284;AL713789;BC015439;BC031093;BC062993;BC073842;BC094725;BC104033;BC104034;BC104035;BC104036;BI821381;CH471052;CR936753;CR936756;CR936763;NG_017076;NM_001174150;NM_001174151;NM_144996;NM_182896;NR_033427;XM_006713531;XM_006713532;XM_006713533;XM_006713534 AAH94725;AAI04036;AAI04037;ACE86811;ACE87498;ACE87851;ACT64375;BAG59533;BAG61300;CAD28544;EAW79897;EAW79898;EAW79899;EAW79900;EAW79901;NP_001167621;NP_001167622;NP_659433;NP_878899;Q3SXY8;XP_006713594;XP_006713595;XP_006713596;XP_006713597 Hs.533086 1682888 RH48040 ARL2L1;DKFZp686E2075;DKFZp686L2472;DKFZp686M2074;DKFZp761H079;JBTS8;MGC120611;MGC120612 ADP-ribosylation factor-like 2-like 1;ADP-ribosylation factor-like protein 13B;ARL2-like protein 1;OTTHUMP00000213855;OTTHUMP00000213858;OTTHUMP00000213859 APPROVED protein-coding ENSG00000169379 HGNC:25419 12334 608922;612291 REVIEWED 6771193 ARL14EPL ADP-ribosylation factor-like 14 effector protein-like 5 5 5 q23.1 111335555 111343040 + 115387163 115394827 + 116051466 116059130 + 10737800 644100 P0DKL9 ABBA01069028;AC034236;AMYH02012011;BF993117;DN930361;DN930362;DT932734;NM_001195581 NP_001182510;P0DKL9 Hs.730043;Hs.98288 1780908 bac53227S ARL14 effector protein-like;uncharacterized protein LOC644100 protein-coding HGNC:44201 VALIDATED 1602076 ARL14EP ADP-ribosylation factor-like 14 effector protein The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014] 11 11 11 p14.1 30491042 30505559 + 30344649 30359165 + 30323102 30337618 + 6480464 10568747;12477932;14702039;15489334;17207965;21139048;21458045;21890473;21906983;21963094;21987572 120534 E9PRK7;Q8N8R7 ABBA01060937;AK096287;AK127509;AL356440;AMYH02024532;AV714521;BC047775;BM674118;BP341330;BX647617;CH471064;CS300570;KF455353;NG_034234;NM_152316;XM_005252792 AAH47775;ADQ33112;BAC04747;CAI46092;CAK32234;EAW68259;NP_689529;Q8N8R7;XP_005252849 Hs.502208 1669315;1685664;1713381;2143511;5020092 RH119546;RH40032;SHGC-132872;SHGC-53867;WI-17439 ARF7EP;C11orf46;FLJ38968;dJ299F11.1 ARF7 effector protein;ARL14 effector protein;OTTHUMP00000232037;hypothetical protein LOC120534;uncharacterized protein C11orf46 APPROVED protein-coding HGNC:26798 08796 612295 REVIEWED 1349632 ARL14 ADP-ribosylation factor-like 14 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasmic vesicle (inferred); INTERACTS WITH aflatoxin B1; calcitriol; formaldehyde 3 3 3 q25.33 158816951 158818239 + 160394948 160396236 + 160677160 160678448 + 6480464;8554872 12477932;14702039;15367757;15489334;15761153;16341674;19458352;21988832 80117 Q8N4G2 ABBA01058793;AC069224;AK026248;AMYH02008025;BC034354;BM760777;CH471052;NM_025047 AAH34354;ADZ16082;BAB15411;EAW78629;NP_079323;Q8N4G2 Hs.287702 ARF7;FLJ22595 ADP-ribosylation factor 7;ADP-ribosylation factor-like protein 14;OTTHUMP00000213879 protein-coding ENSG00000179674 HGNC:22974 07998 614439 VALIDATED 1601700 ARL16 ADP-ribosylation factor-like 16 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); FOUND IN intracellular (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 7,12-dimethyltetraphene (ortholog) 17 17 17 q25.3 76293146 76295876 - 79648224 79650954 - 81681194 81683924 - 6480464 12477932;14702039;15489334;21233210;21906983;24250222 339231 I3L196;I3L1P0;I3L4Z1;I3L4Z7;Q0P5N6 ABBA01032159;AC139530;AK095847;AK303526;AK304718;AMYH02034134;BC029633;BC042380;BC063687;BC105076;BC105078;NM_001040025 AAI05077;AAI05079;ADR82863;BAG64554;BAG65482;NP_001035114;Q0P5N6 Hs.658789 5037552 D8S2279 ADP-ribosylation factor-like protein 16 protein-coding ENSG00000214087 HGNC:27902 VALIDATED 1602487 ARL17A ADP-ribosylation factor-like 17A ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN protein transport (inferred); small GTPase mediated signal transduction (inferred); vesicle-mediated transport (inferred); FOUND IN Golgi apparatus (inferred); intracellular (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; valproic acid 17 17 17 q21.31 57320187 57332531 + 44577184 44657155 - 46499818 46579786 - 6480464 12477932;15489334;16344560;22505724 51326 A8K0M5;I3L1V5;I3L2E4;Q8IVW1 AB209344;ABBA01000577;ABBA01003835;AC138645;AC243627;AC243899;AF086297;AF208864;AF493886;AK289590;AK315857;BC000924;BC020869;BC030570;BC041803;BC071681;BX102203;BX537922;BX647266;CA449330;DA761795;DA979569;DB027627;DB065209;DB241677;HG509340;HY151357;NM_001113738;NM_001288811;NM_001288812;NM_001288813;NM_016632;XM_005257439;XM_005257440;XM_005257441;XM_006725627;XM_006725628;XM_006725629;XM_006725630;XR_429895 AAF64278;AAH00924;AAH30570;AAH41803;AAM12600;BAD92581;BAF82279;BAF98748;NP_001107210;NP_001275740;NP_001275741;NP_001275742;NP_057716;XP_005257496;XP_005257497;XP_005257498;XP_006725690;XP_006725691;XP_006725692;XP_006725693 Hs.559259;Hs.720599;Hs.720602;Hs.733127 1743291;1774779;1851494;2151297;5127432 D17S1689;GDB:314381;SHGC-57505;SHGC-58364;STS-AA029927 ARF1P2;ARL17P1;RP11-927P21.1 ADP-ribosylation factor 1 pseudogene 2;ADP-ribosylation factor 7;ADP-ribosylation factor-like 17 pseudogene 1;ADP-ribosylation factor-like 17-like;OTTHUMP00000163711 APPROVED protein-coding ENSG00000185829 HGNC:24096 17424 VALIDATED 1323226 ARL15 ADP-ribosylation factor-like 15 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 5 5 5 p15.2 50134233 50560002 - 53180578 53606403 - 53884748 54310573 - 737633;6480464 12477932 14702039;15489334;16169070;17207965;19056867;20011104;20379614;20686565;20950786;21139048;21890473;21906983;22479202;23000965;23793025;23918589;24097068 54622 Q9NXU5;R4GN67 ABBA01015723;ABBA01015724;ABBA01015725;ABBA01015726;AC008873;AC008935;AC016601;AC024571;AC025175;AC034246;AK000058;AK290886;AK311482;AMYH02011297;AMYH02011298;AMYH02011299;AMYH02011300;AMYH02011301;AMYH02011302;BC026093;CH471123;CR457225;KF457914;NM_019087;XM_005248549;XM_005248550;XM_006714654 AAH26093;ADQ32165;BAA90915;BAF83575;CAG33506;EAW54889;EAW54890;EAW54891;NP_061960;Q9NXU5;XP_005248606;XP_005248607;XP_006714717 Hs.659125 1336180;1337541;1341059;1650750;1650800;1655640;1660507;1663491;1670393;1677346;1686324;1691032;1706176;1719451;1721137;1726861;1729579;1752441;2109055;2113784;2122585;2123881;2163144;7186735;7187457 A101YE9;AB055363;AFM254wf1;ARFRP2_9807;D5S1508;D5S1968;D5S1969;D5S2423;D5S260;D5S453E;D5S628;G59403;G62673;L28283;L28354;RH123444;RH46502;RH75399;SGC31091;SHGC-106389;SHGC-34222;SHGC-80614;STS-N22913 ARFRP2;FLJ20051 ADP-ribosylation factor related protein 2;ADP-ribosylation factor-like protein 15;ADP-ribosylation factor-related protein 2;ARF-related protein 2;OTTHUMP00000230684;OTTHUMP00000230685 protein-coding ENSG00000185305 HGNC:25945 12471 VALIDATED 7370113 ARL2-SNX15 ARL2-SNX15 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring ADP-ribosylation factor-like 2 (ARL2) and sorting nexin 15 (SNX15) genes on chromosome 11. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 11 11 q 64781585 64808044 + 65014113 65040572 + 6480464;8554872 14702039;20967262 100528018 ABBA01024137;ABBA01024138;AK096447;AMYH02024949;AMYH02024950;AP000436;AP003068;NR_037650 BAG53293 Hs.80132 1664377 RH11499 ncrna HGNC:49197 VALIDATED 735885 ARL2 ADP-ribosylation factor-like 2 This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008] 11 11 11 q13 62107517 62115588 + 64781585 64789657 + 65014113 65022185 + 1580863;6480464 10831612;11809823;11847227;11980706;12015966;12477932;12527357;12912990;15146197;15489334;16525022;17188265;17646400;17704193;18234692;18588884;18781797;18818514;19368893;19471022;19738201;20360068;20740604;20972266;21139048;21199864;21890473;21906983;21988832;22002721;22505724;22863883;22939629;23000965;23807224;24816145;8125298;8415637;9253601 402 B4DGG0;P36404;Q53YD8 ABBA01024138;AF493888;AI076058;AI631767;AK223502;AK294580;AMYH02024949;AP000436;BC002530;BG706294;BT006674;CH471076;CN338497;L13687;NM_001199745;NM_001667 AAC37606;AAH02530;AAM12602;AAP35320;ACE87082;ACE87762;BAD97222;BAG57771;EAW74332;EAW74333;NP_001186674;NP_001658;P36404 Hs.502836 1338740;1782486;1857755;2157053;5021872;5022651;5037552 D11S2921;D11S4192;D11S4597;D8S2279;G33095;SHGC-172584;sY3084 ARFL2 ADP-ribosylation factor-like protein 2;OTTHUMP00000230835;OTTHUMP00000230836;OTTHUMP00000230838 APPROVED protein-coding ENSG00000213465 HGNC:693 11869 601175 VALIDATED 1344137 ARL2BP ADP-ribosylation factor-like 2 binding protein ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008] 16 16 16 q13 41778726 41787233 + 57279037 57287547 + 57245126 57253633 + 1580863;6480464;8699517;7240710;8554872 10488091;11303027;11809823;11847227;12477932;16525022;18234692;18981177;19322201;19368893;20936779;21139048;21665939;21833473;21901094;21988832;22532868;22745590;23685147;23849777;24250222;24899173 23568 H3BM52;H3BU49;Q9Y2Y0 ABBA01025265;ABBA01025266;AC009090;AF126062;AK075050;AK298758;AK311018;AMYH02032101;BC003087;BC094878;BF590083;CH471092;CQ783045;NG_033905;NM_012106 AAD20633;AAH03087;AAH94878;BAG52057;BAG60900;CAF86252;EAW82913;EAW82914;NP_036238;Q9Y2Y0 Hs.632873;Hs.719024 1647702;1754769;1767550 G06868;SHGC-33383;STS-W69175 BART;BART1;RP66 ADP-ribosylation factor-like protein 2-binding protein;ARF-like 2-binding protein;ARL2-binding protein;Arf-like 2 binding protein BART1;OTTHUMP00000164663;binder of ARF2 protein 1;binder of Arl Two;binder of Arl2;retinitis pigmentosa 66 (autosomal recessive) APPROVED protein-coding ENSG00000102931 HGNC:17146 09808 615407;615434 REVIEWED 1605146 ARL17B ADP-ribosylation factor-like 17B ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN protein transport (inferred); small GTPase mediated signal transduction (inferred); vesicle-mediated transport (inferred); FOUND IN Golgi apparatus (inferred); intracellular (inferred); INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 7,12-dimethyltetraphene (ortholog) 17 17 q21.31 44351550 44439416 - 46274184 46362046 - 6480464 11181995;12477932;14702039;15489334;19608861;21963094;22505724 100506084 A8K0M5;I3L1A0;I3L1V5;I3L2E4;I3L3L1;Q8IVW1 AB209344;ABBA01003822;ABBA01041111;AC005829;AC139026;AC217777;AF086297;AF208864;AF493886;AK289590;AK315857;BC000924;BC020869;BC030570;BC041803;BC071681;BX537922;BX647266;CH878255;NM_001039083;NM_001103154;XM_005256917;XM_005256918;XR_429866 AAF64278;AAH00924;AAH30570;AAH41803;AAM12600;BAD92581;BAF82279;BAF98748;EAW50328;EAW50329;NP_001034172;NP_001096624;Q8IVW1;XP_005256974;XP_005256975 Hs.559259;Hs.720599;Hs.720602;Hs.733127 2151297;5022576;5127432 D1S1361;SHGC-58364;STS-AA029927 ARL17;ARL17A;FLJ76374;FLJ79506;MGC45095 ADP-ribosylation factor 7;ADP-ribosylation factor-like 17;ADP-ribosylation factor-like protein 17 APPROVED protein-coding ENSG00000228696 HGNC:32387 VALIDATED 6480914 ARL2BPP10 ADP-ribosylation factor-like 2 binding protein pseudogene 10 22 22 18585223 18586415 - 18102457 18103649 - 100874449 ABBA01001421;AC016027;AMYH02038020;NG_032307 pseudo HGNC:39454 INFERRED 1349460 ARL2BPP1 ADP-ribosylation factor-like 2 binding protein pseudogene 1 18 18 q23 74415819 74416210 - 76703863 76704254 - 399666 ABBA01015283;AC110743;AMYH02035018;NG_028708 HsT2883 pseudo HGNC:17742 INFERRED 1346532 ARL2BPP2 ADP-ribosylation factor-like 2 binding protein pseudogene 2 12 12 12 q13.13 52803394 52803905 + 53157166 53157677 + 52763382 52763893 + 399667;643898 ABBA01008295;AC068988;AMYH02026500;NG_030318 ARL2BPL;bcm1040 APPROVED pseudo HGNC:31036 INFERRED 6481008 ARL2BPP5 ADP-ribosylation factor-like 2 binding protein pseudogene 5 5 5 162188839 162189319 + 162761833 162762313 + 100874420 ABBA01044193;AC010602;AMYH02012626;NG_032305 pseudo HGNC:39449 INFERRED 4891560 ARL2BPP4 ADP-ribosylation factor-like 2 binding protein pseudogene 4 5 5 5 q23.3 125995443 125995972 + 129865094 129865786 + 130529401 130530093 + 17903298 100130265 ABBA01068841;AC005741;AMYH02012190;NG_028952 pseudo HGNC:39448 INFERRED 4891571 ARL2BPP3 ADP-ribosylation factor-like 2 binding protein pseudogene 3 13 13 13 q13.3 18435830 18436477 + 37368621 37369187 + 36794484 36795050 + 646879 ABBA01021354;AL159973;AMYH02027869;CH471075;NG_022943 EAX08569 1737323;1755361;1778925 D13S927;SHGC-142244;WI-22737 pseudo HGNC:39447 INFERRED 6481011 ARL2BPP6 ADP-ribosylation factor-like 2 binding protein pseudogene 6 5 5 174717734 174718255 + 175290731 175291252 + 100874421 ABBA01043996;AC020903;AMYH02012799;NG_032306 pseudo HGNC:39450 INFERRED 4891556 ARL2BPP8 ADP-ribosylation factor-like 2 binding protein pseudogene 8 17 17 17 q22 49293770 49294257 - 52830236 52832038 - 54752875 54754677 - 100131784 ABBA01041283;AC005951;AMYH02033644;NG_028975 pseudo HGNC:39452 INFERRED 4891557 ARL2BPP7 ADP-ribosylation factor-like 2 binding protein pseudogene 7 9 9 9 q31.1 75321286 75322432 - 104816145 104818108 - 102053863 102055826 - 100131629 ABBA01042868;AL596454;AMYH02021356;NG_028958 pseudo HGNC:39451 INFERRED 4891555 ARL2BPP9 ADP-ribosylation factor-like 2 binding protein pseudogene 9 17 17 17 77125237 77126015 - 80534490 80535268 - 82576614 82577392 - 100421675 ABBA01019689;AC124283;AMYH02034161;NG_026204 pseudo HGNC:39453 INFERRED 734227 ARL3 ADP-ribosylation factor-like 3 ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008] 10 10 10 q23.3 98174570 98215252 - 104433484 104474190 - 102673727 102714433 - 68742;1580863;6480464 8034651 10072593;10518933;11188688;11303027;11847227;11980706;12107411;12417528;12477932;15489334;16169070;16385451;16472755;16525022;17646400;18029348;18588884;19056867;20106869;21139048;21890473;21906983;22002721;22960633;23535732;23548655;24250222;24816145;7566098;8619474;8889548;9110174 403 P36405 AA325516;ABBA01063137;ABBA01063138;ABBA01063139;ABBA01063140;ABBA01063141;AF038193;AF493889;AK312525;AL391121;AMYH02023702;AMYH02023703;AMYH02023704;AW269939;BC008032;BC009841;BC025759;BE780186;BM661686;BQ638232;CD245572;CH471066;CR407637;NM_004311;U07151 AAA21654;AAH09841;AAM12603;ABM84157;ABM87559;BAG35424;CAG28565;EAW49678;NP_004302;P36405 Hs.182215 1653072;1656117;1765215;1776566;2110995;2111208;2113092;2124887 A002G45;D10S2455;D10S476E;D10S669E;RH11266;RH41912;SHGC-12905;SHGC-148709 ARFL3 ADP-ribosylation factor-like protein 3;ARF-like 3;OTTHUMP00000020373;adp-ribosylation-like 3 APPROVED protein-coding ENSG00000138175 HGNC:694 05260 604695 REVIEWED 1345856 ARL4C ADP-ribosylation factor-like 4C ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 229122450 229126462 - 235401685 235405721 - 234493041 234497053 - 1580863;6480464 10462049;12477932;15147902;15489334;16713569;17398095;18029348;19409876;20686608;21187453;21832049;21890473;21906983;21963094;23000965;24165912;24816145 10123 P56559 AB016811;ABBA01001958;AC097713;AC105145;AF493892;AJ579850;AJ579851;AK314119;AMYH02006021;BC001051;BC089043;BM541491;BM904613;BT019378;BT019379;BU844902;CA413100;CD358707;CH471063;HI179044;NM_001282431;NM_005737;Y17804 AAH89043;AAM12606;AAV38185;AAV38186;AAX93114;ACE86833;ACE87519;BAA75473;BAG36810;CAB44355;CAE30322;CAE30323;CBX53831;EAW71073;EAW71074;NP_001269360;NP_005728;P56559 Hs.111554;Hs.730678 1739221;2151987;5096620 D2S1923;STS-T91940;WI-15413 ARL7;LAK ADP ribosylation factor-like protein 7;ADP-ribosylation factor-like 7;ADP-ribosylation factor-like protein 4C;ADP-ribosylation factor-like protein 7;ADP-ribosylation factor-like protein LAK;OTTHUMP00000164395 APPROVED protein-coding ENSG00000188042 HGNC:698 11988 604787 REVIEWED 1315741 ARL4D ADP-ribosylation factor-like 4D ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38186886 38189037 + 41476353 41478504 + 43398985 43401136 + 1580863;6480464 10462049;10508919;12472661;12477932;15258860;15314642;15489334;15761153;16169070;17398095;21832049;21890473;21906983;21963094;22927989;23000965;7545954;7581362;7590735;8889548 379 P49703 AB060692;ABBA01028417;AC087650;AK314951;AMYH02033458;BC000043;BI547763;BM682844;BU729196;CH471178;L38490;NM_001661 AAA57126;AAH00043;BAB91080;BAG37456;EAW51681;EAW51682;NP_001652;P49703 Hs.183153;Hs.709866 1734046;1853594;2107845;2118933 ARF4L_8207;D17S1343;RH70270;SHGC-11073 ARF4L;ARL6 ADP-ribosylation factor 4-like;ADP-ribosylation factor-like 6;ADP-ribosylation factor-like protein 4D;ADP-ribosylation factor-like protein 4L APPROVED protein-coding ENSG00000175906 HGNC:656 02842 600732 REVIEWED 1604399 ARL4A ADP-ribosylation factor-like 4A ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p21.3 12704156 12708234 + 12726452 12730559 + 12686827 12690934 + 6480464 10462049;10756096;10980193;12477932;12690205;15489334;17398095;18240926;21906983;21930703;22159419;7829101 10124 C9J7Q9;P40617 ABBA01056578;AC011891;AF493890;AK313233;AMYH02015248;AU076407;AW022162;AW079064;BC001111;BC003027;BC039123;BI828864;BM550177;BQ948724;BU786406;CD049640;CH236948;CH471073;DB451189;DB472672;NM_001037164;NM_001195396;NM_005738;NM_212460;U73960 AAB39713;AAH01111;AAH03027;AAM12604;BAG36044;EAL24295;EAW93650;EAW93651;EAW93652;NP_001032241;NP_001182325;NP_005729;NP_997625;P40617 Hs.245540 1645062;5113627 RH48668;RH80713 ARL4 ADP-ribosylation factor-like 4;ADP-ribosylation factor-like protein 4A;OTTHUMP00000155200;OTTHUMP00000155201;OTTHUMP00000201574;OTTHUMP00000201575;OTTHUMP00000201576;OTTHUMP00000201577 APPROVED protein-coding ENSG00000122644 HGNC:695 11987 604786 REVIEWED 1605276 ARL4P2 ADP-ribosylation factor-like 4 pseudogene 2 4 4 4 p14 41230854 41232002 + 40787905 40789053 + 40785888 40787036 + 152709 ABBA01014257;AC131953;AMYH02009085;NG_005394 pseudo HGNC:32379 INFERRED 6769531 ARL5AP1 ADP-ribosylation factor-like 5A pseudogene 1 X X X q24 118772176 118775734 - 118317445 118321005 - 119183482 119187042 - 641382 ABBA01036710;AL441887;AMYH02040326;NG_005344 RP11-320L24.1-001 pseudo HGNC:43933 INFERRED 6769533 ARL5AP4 ADP-ribosylation factor-like 5A pseudogene 4 22 22 22 q11.2 8886212 8893494 + 25081822 25089151 + 24685855 24693184 + 641379 ABBA01055149;AMYH02038146;AP000357;AP000358;NG_005341 pseudo HGNC:43936 INFERRED 6769532 ARL5AP2 ADP-ribosylation factor-like 5A pseudogene 2 10 10 10 q24.2 94507766 94510829 - 100770912 100773979 - 99011155 99014222 - 641380 ABBA01063257;AL590036;AMYH02023628;NG_005342;NG_023416 RP11-379D21.2-001 pseudo HGNC:43937 INFERRED 1354501 ARL4P ADP-ribosylation factor-like 4 pseudogene 10 10 10 q21.2 55709627 55710792 + 62443989 62445154 + 60684231 60685396 + 387684 ABBA01019464;AC022390;AMYH02023175;NG_011408;NG_029917 2106437 ARL4B__4370 ARL4B pseudo HGNC:17741 INFERRED 7207694 ARL5B-AS1 ARL5B antisense RNA 1 10 10 p12.31 18941162 18948214 - 18654866 18659238 - 12477932;16344560 102724059 AL512641;AL698095;BC047402;BU860850;DA841900;HG502721;XR_428678 ncrna HGNC:44882 MODEL 1346010 ARL5A ADP-ribosylation factor-like 5A The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] 2 2 2 q23.3 146272160 146299690 - 152657480 152685009 - 151800966 151828495 - 1580863;6480464 10931946;12414990;12450215;12477932;15489334;15896705;19322201;21832049;24250222 26225 F8WER2;Q9Y689 ABBA01004781;AC097448;AF087889;AF100740;AF493891;AK292714;AK298937;AMYH02004987;BC001254;BG707385;BM800611;BQ216648;BT009829;BX461356;CH471058;CX867116;NM_001037174;NM_012097;NM_177985 AAD40383;AAH01254;AAM12605;AAP88831;AAP97188;AAX82013;ABM82119;ABM85302;BAF85403;BAG61039;EAX11495;EAX11496;EAX11497;NP_001032251;NP_036229;NP_817114;Q9Y689 Hs.470233 5112175 RH102125 ARFLP5;ARL5 ADP-ribosylation factor-like 5;ADP-ribosylation factor-like protein 5;ADP-ribosylation factor-like protein 5A;OTTHUMP00000162713;OTTHUMP00000207220;OTTHUMP00000207221 APPROVED protein-coding HGNC:696 12343 608960 REVIEWED 1316723 ARL5C ADP-ribosylation factor-like 5C ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); FOUND IN intracellular (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3H-1,2-dithiole-3-thione (ortholog); aflatoxin B1 (ortholog) 17 17 17 q12 33974029 33983324 - 37313147 37322414 - 39156894 39166161 - 6480464 11181995;16625196 390790 A6NH57;K7EM39 ABBA01031883;AC004408;AK310706;AMYH02033373;CH471152;NM_001143968 A6NH57;EAW60555;NP_001137440 Hs.568007 5016478;5017170;5022578 D1S1423;GDB:434012;L29953 ARL12;FLJ17748 ADP-ribosylation factor-like 12;ADP-ribosylation factor-like protein 12;putative ADP-ribosylation factor-like protein 5C protein-coding HGNC:31111 PROVISIONAL 1313675 ARL5B ADP-ribosylation factor-like 5B ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010] 10 10 10 p12.31 18633827 18652457 + 18948264 18970568 + 18659335 18681639 + 737633;1580863;6480464 12477932 12853149;14702039;15146197;15489334;15761153;16385451;20932310;21139048;21658281;21890473;21906983;22172677;22245584;22505724 221079 B0YIW9;Q96KC2 ABBA01034535;AF494061;AK022915;AK027275;AL133611;AL512641;AL700452;AMYH02022380;AMYH02022381;AMYH02022382;BC024163;CH471072;CN301486;EF444954;NM_178815;XM_005252400;XM_005252401 AAH24163;AAM74076;ABM84092;ABM87463;ACA05947;BAB55011;EAW86190;NP_848930;Q96KC2;XP_005252457;XP_005252458 Hs.25362;Hs.594569 ARL8 ADP-ribosylation factor-like 8;ADP-ribosylation factor-like protein 5B;ADP-ribosylation factor-like protein 8;ADP-ribosylation-like factor 8;OTTHUMP00000019260 APPROVED protein-coding ENSG00000165997 HGNC:23052 12328 608909 VALIDATED 1342975 ARL6IP1P1 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 1 14 14 14 q11.2 1981321 1981927 - 22115933 22118621 - 21647717 21650405 - 100288702 ABBA01061265;AC243972;AE000521;NG_022838 ARL6IPP1 APPROVED pseudo HGNC:23178 INFERRED 7205015 ARL6IP1P2 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 2 10 10 10 p11.21 37049964 37050528 + 37283951 37284515 + 36995023 36995587 + 646348 ABBA01033308;AL591105;AMYH02022647;NG_022169 pseudo HGNC:44971 INFERRED 1345801 ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1 INVOLVED IN cell death (inferred); cotranslational protein targeting to membrane (inferred); FOUND IN membrane; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid 16 16 16 p12-p11.2 17956727 17966592 - 18802991 18812894 - 18791669 18801535 - 1580863;6480464 10508919;10995579;12477932;12754298;14702039;15489334;16169070;16189514;17207965;18029348;19019082;19060904;19322201;19946888;20213509;20372863;21139048;21890473;21900206;21906983;21963094;21987572;22053931;22505724;23000965;24076029;24482476;24816145;25015289;7584044 23204 B7Z6S5;F5GXP4;H3BPJ2;H3BS91;H3BTX6;Q15041 ABBA01028242;AC138811;AK291137;AK300825;AK300869;AK301636;AK307315;AK308092;AK308744;AMYH02031628;BC010281;BX648446;CH471186;D31885;NM_015161 AAH10281;ADQ32858;BAA06683;BAF83826;BAH13355;BAH13361;BAH13527;EAW50257;EAW50258;NP_055976;Q15041 Hs.634882 1684224;1848029 D16S3202;RH25299 AIP1;ARL6IP;KIAA0069;SPG61;aip-1 ADP-ribosylation factor-like protein 6-interacting protein 1;ARL-6-interacting protein 1;ARMER;OTTHUMP00000162056;apoptotic regulator in the membrane of the endoplasmic reticulum protein-coding ENSG00000170540 HGNC:697 09641 607669 PROVISIONAL 1313618 ARL6 ADP-ribosylation factor-like 6 The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). Alternative splicing results in multiple transcript variants of this gene. A vision-specific transcript encoding a different protein has been described (PMID: 20333246). [provided by RefSeq, May 2013] 3 3 3 q11.2 95873167 95906953 + 97483365 97520086 + 97764521 97801242 + 1578724;1578725;1580863;6480464;7240710;8554872;8699517 10508919;15314642 10462049;11076863;11230166;12429613;12477932;15258860;15489334;15489336;16246095;16381901;17646400;19056867;19077438;19236846;19478329;19913121;20142850;20207729;20301537;20301590;20301743;20333246;20628086;20801516;21139048;21282186;23219996;23548655;7987310;8889548 84100 C9IZ13;H7C5H6;Q9H0F7 ABBA01026940;AC110491;AK292958;AK310829;AL136815;AL138043;AMYH02007284;BC024239;BG722744;BM705017;BU183949;BU607306;CH471052;DC323603;NG_008119;NM_001278293;NM_032146;NM_177976;NR_103511;XM_006713779;XM_006713780;XM_006713781;XM_006713782;XM_006713783;XR_427382 AAH24239;BAF85647;CAB66749;CAL37540;CAL38233;EAW79880;EAW79881;EAW79882;EAW79883;EAW79884;NP_001265222;NP_115522;NP_816931;Q9H0F7;XP_006713842;XP_006713843;XP_006713844;XP_006713845;XP_006713846 Hs.373801 BBS3;MGC32934;RP55 ADP-ribosylation factor-like protein 6;OTTHUMP00000214308;OTTHUMP00000214309;OTTHUMP00000214310;bardet-Biedl syndrome 3 protein APPROVED protein-coding ENSG00000113966 HGNC:13210 10588 209900;608845;613575 REVIEWED 7205183 ARL6IP1P3 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 3 11 11 11 q14.1 77673406 77673965 - 80364469 80365028 - 80653425 80653984 - 729790 ABBA01017390;AMYH02025173;AP002759;NG_021793 pseudo HGNC:44972 INFERRED 1348114 ARL8A ADP-ribosylation factor-like 8A ENCODES a protein that exhibits GTP binding; alpha-tubulin binding (ortholog); beta-tubulin binding (ortholog); INVOLVED IN chromosome segregation (ortholog); FOUND IN cytoplasm; extracellular vesicular exosome; lysosomal membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 1 1 1 q32.1 175225835 175237724 - 202102532 202113871 - 202133404 202144743 - 737633;69939;1580863;6480464 12477932;8889548 10737800;14871887;15331635;15342556;15489334;16537643;16710414;17207965;17897319;19056867;19946888;21139048;21890473;21906983;22053931;23000965 127829 Q96BM9 AB118752;ABBA01027509;ABBA01027510;AK127138;AK313122;AL592300;AMYH02002491;AMYH02002492;AW090198;BC015408;BC053358;BC069053;BG876867;BM548962;BM688638;BM999456;BP325806;BU727024;BX421006;CH471067;NM_001256129;NM_138795 AAH15408;ADQ32803;BAD23993;BAG35942;BAG54442;EAW91395;EAW91396;EAW91397;EAW91399;NP_001243058;NP_620150;Q96BM9 Hs.497399;Hs.604697 1761919;2218252 ARL10B_4367;SHGC-145852 ARL10B;FLJ45195;GIE2 ADP-ribosylation factor-like 10B;ADP-ribosylation factor-like protein 10B;ADP-ribosylation factor-like protein 8A;OTTHUMP00000034102;novel small G protein indispensable for equal chromosome segregation 2;small G protein indispensable for equal chromosome segregation 2 protein-coding ENSG00000143862 HGNC:25192 09807 VALIDATED 1344465 ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5 Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008] 3 3 3 p14 69062198 69083349 + 69134090 69155239 + 69084939 69106088 + 1299537;1580863;6480464 11242046 10508919;11042152;12119102;12438930;12477932;12562531;12665801;12761501;14761432;15489334;15757671;15864752;16303743;16331563;16430862;16468075;16481131;16638297;16640902;16766476;16922813;17255364;17336041;17479401;17479402;17479403;17646425;18029348;18167356;18387645;18684713;19080375;19208635;19946888;20201924;21103663;21139048;21890473;21906983;21987572;22357531;22433565;22452940;22505724;22939629;23000965;23142642;23169062;23246001;23285001;23461062;24064223;24072772;24157826;24816145;25015289;8125298 10550 C9JQU6;F8WF33;F8WF90;O75915 AB014765;AB052638;AB097051;ABBA01030898;AC092060;AF070523;AF115965;AF125530;AF161476;AK074612;AK223566;AK301637;AK312731;AMYH02007013;AY102608;BC005143;BC020797;BC107899;BG483337;BU149630;CH471055;NM_006407 AAC64360;AAF17224;AAF29091;AAH05143;AAH20797;AAM28950;AAP97237;BAC66462;BAC77404;BAD83603;BAD97286;BAG35602;BAG51976;BAG63118;EAW65473;EAW65474;NP_006398;O75915 Hs.518060;Hs.745255 1663318;1670622;1672068 SHGC-33714;SHGC-52890;SHGC-77077 DERP11;GTRAP3-18;HSPC127;JM5;JWA;PRAF3;aip-5;hp22;jmx ADP-ribosylation factor-like protein 6-interacting protein 5;ADP-ribosylation-like factor 6 interacting protein 5;ARL-6-interacting protein 5;OTTHUMP00000213432;PRA1 domain family 3;PRA1 family protein 3;addicsin;cytoskeleton related vitamin A responsive protein;cytoskeleton-related vitamin A-responsive protein;dermal papilla derived protein 11;dermal papilla-derived protein 11;glutamate transporter EAAC1-interacting protein;glutamate transporter EEAC1-associated protein;prenylated Rab acceptor protein 2;putative MAPK activating protein PM27;putative MAPK-activating protein PM27 APPROVED protein-coding ENSG00000144746 HGNC:16937 09303 605709 REVIEWED 1316976 ARL6IP4 ADP-ribosylation factor-like 6 interacting protein 4 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; cobalt dichloride 12 12 12 q24.31 123057673 123060253 + 123464607 123467460 + 122980060 122982913 + 1580863;6480464 10508919;10708573;11884129;12107412;12477932;14702039;20098747;20195357;21963094;22113938;22505724;23602568;23974872;24816145 51329 F5GYV5;F5H7X4;F8WCT1;F8WEP2;H7BZV4;Q66PJ3 AA887283;AB035384;ABBA01060439;AC026362;AF267748;AK027285;AK315759;AMYH02027444;AW189362;BC001958;BC015569;BC015909;BC094839;BQ643520;CD672894;CH471054;DQ099385;EU624490;EU624491;NM_001002251;NM_001002252;NM_001278378;NM_001278379;NM_001278380;NM_016638;NM_018694;NR_103512 AAF76892;AAH01958;AAH15569;AAH15909;AAH94839;AAZ13761;ACF07995;ACF07996;BAA94744;BAG38112;EAW98373;EAW98374;EAW98375;EAW98376;EAW98377;EAW98378;EAW98379;EAW98380;EAW98381;EAW98382;NP_001002251;NP_001002252;NP_001265307;NP_001265308;NP_001265309;NP_057722;NP_061164;Q66PJ3 Hs.103561 1771921;1778694;2176072;5107535 RH48254;RH78153;SGC30324;STS-AA022496 HSP-975;MGC814;SFRS20;SR-15;SR-25;SRp25;SRrp37;aip-4 ADP-ribosylation factor-like protein 6-interacting protein 4;ADP-ribosylation-like factor 6 interacting protein 4;ARL-6-interacting protein 4;HSVI binding protein;HSVI-binding protein;OTTHUMP00000239432;OTTHUMP00000239433;OTTHUMP00000239435;OTTHUMP00000239436;OTTHUMP00000239437;OTTHUMP00000239438;OTTHUMP00000239439;OTTHUMP00000239440;OTTHUMP00000239441;OTTHUMP00000239442;OTTHUMP00000239443;OTTHUMP00000239444;SRp25 nuclear protein;splicing factor SRrp37;splicing factor, arginine/serine-rich 20;splicing regulator SRrp38 APPROVED protein-coding ENSG00000182196 HGNC:18076 09640 607668 VALIDATED 1606161 ARL9 ADP-ribosylation factor-like 9 ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008] 4 4 4 q12 54877789 54896005 + 57371375 57390149 + 56505209 56523983 + 6480464 15033445;18976975 132946 Q6T311 ABBA01003426;AC108215;AC114766;AMYH02009258;AY439003;CH471057;NM_206919;XM_005265719;XM_005265720;XM_006714036 AAI41543;AAI48698;AAS07576;EAX05499;EAX05500;NP_996802;Q6T311;XP_005265776;XP_005265777;XP_006714099 Hs.444449 1335809;1663271;1683705;2135260;2136488;2146733 D4S1075;D4S1507;D4S1518;G19659;RH10468;SHGC-51363 ADP-ribosylation factor-like protein 9 APPROVED protein-coding HGNC:23592 12486 612405 VALIDATED 1347021 ARL6IP6 ADP-ribosylation factor-like 6 interacting protein 6 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; calcitriol 2 2 2 q23.3 147188879 147232317 + 153574407 153617767 + 152717893 152761253 + 6480464 10508919;12477932;14702039;15342556;16344560;17207965;21832049 151188 B3KMZ5;H7C0H7;H7C192;Q8N6S5 AA654338;ABBA01004797;AC079344;AF530059;AK023109;AK094696;AK315657;AMYH02004998;AW967583;BC028741;BC070140;BP200063;BP265220;BX437990;CH471058;CQ834436;CQ834476;DA012142;DA801290;NM_152522;NR_024526;XM_006712325;XM_006712326 AAH28741;AAH70140;AAQ09943;AAX93217;ADQ31833;BAG38023;BAG51157;CAH05433;CAH05453;EAX11475;EAX11476;EAX11477;EAX11478;NP_689735;Q8N6S5;XP_006712388;XP_006712389 Hs.643580;Hs.744874 1734900;2114916;2121992;2131879;2135132;5019813 A009X25;D2S1676E;G32948;RH16515;SHGC-30474;SHGC-57826 AIP-6;MGC33864;PFAAP1 ADP-ribosylation factor-like protein 6-interacting protein 6;ADP-ribosylation-like factor 6 interacting protein 6;ADP-ribosylation-like factor 6-interacting protein 6;ARL-6-interacting protein 6;OTTHUMP00000162728;phosphonoformate immuno-associated protein 1;regulated by phosphonoformate APPROVED protein-coding ENSG00000177917 HGNC:24048 12485 VALIDATED 6482622 ARMC10P1 armadillo repeat containing 10 pseudogene 1 3 3 3 q11.2 92609125 92610233 - 94224382 94226494 - 94505538 94507650 - 389137 ABBA01026967;AC024218;AMYH02007251;NG_012229 pseudo HGNC:43646 INFERRED 1605608 ARMC10 armadillo repeat containing 10 This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011] 7 7 7 q22.1 97523222 97548131 + 102715174 102740210 + 103074727 103099763 + 6480464 12477932;12839973;12853948;14702039;15252450;16303743;17342744;17904127;20379614;20877624;21139048;21906983;8125298 83787 C9J5N7;H7BXM8;H7BXQ8;H7C2M7;Q8N2F6 ABBA01057995;AC007683;AC073127;AC108167;AF275808;AI761577;AK075500;AK095169;AK225082;AK291818;AK301565;AMYH02016449;AY150851;AY150852;AY150853;AY150854;BC003586;BM989172;BQ004061;BQ440425;BU941174;CH471070;CS051331;NG_030014;NM_001161009;NM_001161010;NM_001161011;NM_001161012;NM_001161013;NM_031905;XM_005250621;XM_005250622;XM_005250623;XM_005250624;XM_005250625;XM_005250626;XM_005250627;XM_005250628;XM_006716147 AAH03586;AAN72313;AAN72314;AAN72315;AAN72316;AAS07456;AAS07482;AAS07531;BAC11655;BAF84507;BAG63060;CAI72160;EAW83311;EAW83312;EAW83313;NP_001154481;NP_001154482;NP_001154483;NP_001154484;NP_001154485;NP_114111;Q8N2F6;XP_005250678;XP_005250679;XP_005250680;XP_005250681;XP_005250682;XP_005250683;XP_005250684;XP_005250685;XP_006716210 Hs.287412 2120594;2169083;2180604;2180606;5024761 A005K35;G20289;G27625;RH36905;RH77969 FLJ37850;MGC3195;PNAS-112;PNAS112;PSEC0198;SVH OTTHUMP00000211682;OTTHUMP00000211683;OTTHUMP00000211684;OTTHUMP00000211685;OTTHUMP00000211688;armadillo repeat-containing protein 10;specific splicing variant involved in hepatocarcinogenesis;splicing variant involved in hepatocarcinogenesis protein APPROVED protein-coding ENSG00000170632 HGNC:21706 18133 611864 REVIEWED 1351870 ARL8B ADP-ribosylation factor-like 8B ENCODES a protein that exhibits alpha-tubulin binding; beta-tubulin binding; GDP binding; INVOLVED IN chromosome segregation; FOUND IN cytoplasm; extracellular vesicular exosome; membrane; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper atom; copper(0) 3 3 3 p26.1 5101851 5160484 + 5163930 5222601 + 5122245 5180916 + 737633;1580863;6480464 12477932 14702039;14871887;15331635;15489334;15761153;16169070;16537643;16650381;19056867;19322201;19398576;19946888;21139048;21674799;21802320;21824248;21832049;21890473;21906983;21963094;21987572;21988832;22053931;22505724;22993228;23000965;23166591;24088571;25015289 55207 B4DQT8;F2Z344;F8WAW5;Q9NVJ2 AB118751;ABBA01020458;ABBA01020459;AC021999;AC026202;AF086108;AK001564;AK295465;AK298951;AK303872;AL110242;AMYH02006189;BC013131;BC063125;CH471055;CR457264;NM_018184;XM_005265295 AAH13131;AAH63125;BAA91759;BAD23992;BAG58397;BAG61050;BAG64810;CAG33545;EAW63919;EAW63920;EAW63921;EAW63922;NP_060654;Q9NVJ2;XP_005265352 Hs.250009 1653369;1674888;1687680;1706462;1735084;1735136;1774503;2144971;5113228 1612;D3S2357;D3S2771E;D3S2799E;RH68941;RH98975;SHGC-76669;SHGC-76670;SHGC-81116 ARL10C;FLJ10702;Gie1 ADP-ribosylation factor-like 10C;ADP-ribosylation factor-like protein 10C;ADP-ribosylation factor-like protein 8B;OTTHUMP00000115526;OTTHUMP00000206914;novel small G protein indispensable for equal chromosome segregation 1 protein-coding ENSG00000134108 HGNC:25564 12483 VALIDATED 1343337 ARMC1 armadillo repeat containing 1 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN metal ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; cadmium atom 8 8 8 q13.1 62506147 62537940 - 66514691 66546452 - 65602456 65634217 - 1580863;6480464;8554872 12477932;14702039;15489334;15840729;17207965;19322201;20379614;20877624;21139048;21832049;21963094;21988832;23251661 55156 E5RHK3;E5RJ86;E9PR92;Q9NVT9 AA808041;ABBA01041859;ABBA01041860;ABBA01041861;ABBA01041862;AC055822;AC100814;AK001373;AK024053;AK304463;AL512767;AMYH02018094;AMYH02018095;AX405747;AX876612;BC011607;BC018846;CH471068;DC349250;KF458770;NM_001286702;NM_018120;XM_005251264;XM_006716458 AAH11607;ADQ31864;BAA91656;BAB14803;BAG65279;CAC21684;CAD34854;CAE89353;EAW86880;NP_001273631;NP_060590;Q9NVT9;XP_005251321;XP_006716521 Hs.269542 1657548;1694556;1848633;1853768;2123961;2167142 A004P18;D8S1093;G43227;RH18401;SGC34090;STS-R53749 Arcp;FLJ10511 OTTHUMP00000226552;armadillo repeat-containing protein 1 protein-coding ENSG00000104442 HGNC:17684 16506 VALIDATED 1314376 ARMC12 armadillo repeat containing 12 FOUND IN nucleus; INTERACTS WITH 3-methylcholanthrene; cadmium dichloride (ortholog) 6 6 6 p21.31 37259440 37271267 + 35701567 35716690 + 35733790 35748913 + 6480464 12477932;14574404;14702039;15489334;16344560;17081983 221481 F8WC51;Q5T9G4 AA625684;ABBA01038241;ABBA01038242;AK058119;AL157823;AMYH02013543;BC033033;CH471081;CR735810;DB070109;NM_001286574;NM_001286576;NM_145028;XM_005248919;XM_005248920;XM_006715018 AAH33033;BAB71672;EAX03844;EAX03845;NP_001273503;NP_001273505;NP_659465;Q5T9G4;XP_005248976;XP_005248977;XP_006715081 Hs.533066 1697080 RH102021 C6orf81;FLJ25390 OTTHUMP00000016269;OTTHUMP00000016270;OTTHUMP00000215607;armadillo repeat-containing protein 12;hypothetical protein LOC221481;uncharacterized protein C6orf81 APPROVED protein-coding ENSG00000157343 HGNC:21099 12901 VALIDATED 6480855 ARMC2-AS1 ARMC2 antisense RNA 1 6 6 q21 109228681 109229561 - 108908140 108924103 - 101929716 ABBA01026140;AL445189;AMYH02014277;BG504478;HG499515;NR_104137 RP11-249L21.5 APPROVED ncrna HGNC:41008 VALIDATED 7204788 ARMC4P1 armadillo repeat containing 4 pseudogene 1 10 10 27555336 27580347 + 27266407 27291418 + 101060171 ABBA01034391;ABBA01034392;ABBA01034393;AL160291;AL354859;AL355493;AMYH02022511;XM_006709935;XM_006717544;XM_006726513 XP_006709998;XP_006717607;XP_006726576 protein-coding HGNC:44937 MODEL 1350350 ARMC2 armadillo repeat containing 2 INTERACTS WITH benzo[a]pyrene; dibutyl phthalate (ortholog); valproic acid (ortholog) 6 6 6 q21 109915511 110041258 + 109169617 109295352 + 108848414 108974472 + 1580863;6480464 11076863;11230166;12477932;14702039;15489336;16344560;16381901;18978678;20080650;21946350;23284291;23535732;24250222 84071 H0Y4P5;Q8NEN0 ABBA01026140;ABBA01026141;AK095234;AK292499;AK294574;AK309813;AK311225;AL136754;AL390208;AL445189;AMYH02014276;AMYH02014277;AW195322;BC030603;CH471051;DA196834;NM_001286609;NM_032131;XM_005267154;XM_005267155;XM_005267156;XM_005267157;XM_006715573;XM_006715574 AAH30603;BAF85188;BAG53010;BAG57766;CAB66688;CAL37642;CAL38457;EAW48369;EAW48370;NP_001273538;NP_115507;Q8NEN0;XP_005267211;XP_005267212;XP_005267213;XP_005267214;XP_006715636;XP_006715637 Hs.645481 1667503;1670584;1705232;1768762;1852736;2152562;2180136;5111194 D6S2100;GDB:4584994;RH46688;RH66169;SHGC-31355;SHGC-37334;SHGC-78104;WI-18640 DKFZp434P0714;RP11-787I22.1;bA787I22.1 OTTHUMP00000016947;armadillo repeat-containing protein 2 protein-coding ENSG00000118690 HGNC:23045 09809 VALIDATED 1312695 ARMC3 armadillo repeat containing 3 Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008] 10 10 10 p12.31 22904614 23014160 + 23216954 23327452 + 22928024 23038523 + 6480464;8554872 12477932;14702039;16385451;16397042;16915934;19056867;20379614;23382691;8889548 219681 B4DXS3;C9JC46;Q5W041;Q5W042 AA628128;ABBA01034471;ABBA01034472;AC079269;AK057389;AK090961;AK098711;AK302104;AK302985;AL139815;AMYH02022441;AMYH02022442;AMYH02022443;AY436643;BC039312;BX115364;CB240778;CH471072;DB459427;NM_001282745;NM_001282746;NM_001282747;NM_173081;XM_005252380;XM_005252381 AAH39312;AAR99738;BAB71463;BAC05389;BAG63485;BAG64125;EAW86137;EAW86138;EAW86139;NP_001269674;NP_001269675;NP_001269676;NP_775104;Q5W041;XP_005252437;XP_005252438 Hs.659807;Hs.722481 1700418;1747619;2113930 AB070084;G65505;RH103830 CT81;FLJ25845;FLJ32827;KU-CT-1;RP11-300B11.1 OTTHUMP00000019303;OTTHUMP00000019304;OTTHUMP00000205394;OTTHUMP00000205395;armadillo repeat-containing protein 3;beta-catenin-like protein;cancer/testis antigen 81 APPROVED protein-coding ENSG00000165309 HGNC:30964 12487 611226 VALIDATED 1315828 ARMC4 armadillo repeat containing 4 INVOLVED IN cell projection organization (inferred); cilium movement (inferred); left/right axis specification (inferred); ASSOCIATED WITH Autosomal recessive inheritance (inferred); Bronchiectasis (inferred); Chronic bronchitis (inferred); FOUND IN axoneme; ciliary base; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; kojic acid 10 10 10 p12.1-p11.23 27864582 28051379 - 28101095 28287977 - 27812166 27999048 - 6480464;8699517;7240710;8554872 11230166;12477932;14702039;15164054;16385451;20877624;23251661;23849778;24203976 55130 B7Z7A1;B7Z7Y0;Q5T2S8;Q5T2S9;R4GN11 ABBA01034380;ABBA01034381;ABBA01034382;ABBA01034383;AK001238;AK001679;AK292521;AK301708;AK302048;AK302419;AK302627;AL136859;AL355372;AL390866;AMYH02022519;AMYH02022520;AMYH02022521;AMYH02022522;AMYH02022523;BC085611;BC140846;BG187578;CH471072;DA184551;NM_001290020;NM_001290021;NM_018076;XM_005252485;XM_006717453;XM_006717454;XM_006717455 AAI40847;BAA91574;BAF85210;BAH13537;BAH13617;BAH13703;BAH13766;CAB66793;EAW86049;EAW86050;NP_001276949;NP_001276950;NP_060546;Q5T2S8;XP_005252542;XP_006717516;XP_006717517;XP_006717518 Hs.127530 2182409;2218254 ARMC4_4371;WI-18023 CILD23;DKFZp434P1735;FLJ10376;FLJ10817;FLJ32798;RP11-691I13.1 OTTHUMP00000019375;armadillo repeat-containing protein 4 protein-coding ENSG00000169126 HGNC:25583 10663 615408;615451 VALIDATED 1315235 ARMC5 armadillo repeat containing 5 This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] 16 16 16 p11.2 28829903 28838074 - 31469010 31478488 + 31458273 31467167 + 1580863;6480464;8554872 11214971;12477932;14702039;21145461;21963094;22939624;23443559;24283224;24601692;24708098;24739311;24905064 79798 B4DH27;B4DIU9;F5H156;H3BS74;J3KQ26;Q96C12 ABBA01042096;AC026471;AK023125;AK024430;AK294897;AK295790;AK297115;AMYH02031851;AY217348;BC014945;CH471192;NG_034258;NM_001105247;NM_001288767;NM_001301820;NM_024742;XM_005255581;XM_006721091 AAH14945;AAO45101;BAB14418;BAB15720;BAG57988;BAG58611;BAG59622;EAW52131;EAW52132;EAW52133;NP_001098717;NP_001275696;NP_001288749;NP_079018;Q96C12;XP_005255638;XP_006721154 Hs.732945 AIMAH2;FLJ00019;FLJ13063 armadillo repeat-containing protein 5 protein-coding ENSG00000140691 HGNC:25781 07809 615549;615954 REVIEWED 1347915 ARMC7 armadillo repeat containing 7 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 2-methylcholine; atrazine; calcitriol 17 17 17 q25.1 69698445 69718737 + 73106047 73126360 + 75109987 75130265 + 737633;1580863;6480464;8554872 12477932 14702039;15489334;16189514;17207965;21832049;21988832;24250222 79637 B4DVA4;J3KST7;J3KTE5;Q9H6L4 ABBA01028816;ABBA01028817;AC022211;AC111186;AK025813;AK300997;AMYH02033983;BC011728;CH471099;NM_024585 AAH11728;ADQ33149;BAB15242;BAG62616;EAW89236;EAW89237;EAW89238;EAW89239;NP_078861;Q9H6L4 Hs.413047 2179775 RH15966 FLJ22160 armadillo repeat-containing protein 7 protein-coding ENSG00000125449 HGNC:26168 08649 PROVISIONAL 1601876 ARMC8 armadillo repeat containing 8 INTERACTS WITH (-)-demecolcine; arsenous acid; benzo[a]pyrene 3 3 3 q22.3 136330912 136441107 + 137906115 138017231 + 138187248 138298389 + 6480464 11042152;12477932;14702039;17207965;17467196;18215130;19615732;20224683;21139048;21145461;21900206;23022380;23667531;23956138;24816145 25852 B7Z637;C9J2I1;C9J625;C9J8P8;C9JAA7;C9JBY2;G5E9V6;G5E9V7;H7C4J4;H7C5B7;H7C5H2;Q8IUR7 ABBA01059094;AC022337;AC068777;AF109184;AF161541;AK001721;AK001882;AK098500;AK127341;AK128702;AK289577;AK296757;AK296837;AK299229;AK299769;AK304558;AK315932;AL096748;AMYH02007766;AMYH02007767;AMYH02007768;BC013424;BC032661;BC041699;BF966252;BQ014283;BQ719381;BX538188;CH471052;CX167429;DC304503;DC342329;HY004298;NM_001267041;NM_001267042;NM_001282342;NM_014154;NM_015396;NM_213654;XM_006713564;XM_006713565;XM_006713566;XM_006713567 AAF29028;AAH13424;AAH32661;AAH41699;AAQ13493;ADQ32698;BAA91861;BAA91959;BAF82266;BAH12427;BAH12439;BAH12976;BAH13123;BAH14215;BAH14303;CAB46423;EAW79075;EAW79076;EAW79077;EAW79078;EAW79079;EAW79080;EAW79081;EAW79082;NP_001253970;NP_001253971;NP_001269271;NP_054873;NP_056211;NP_998819;Q8IUR7;XP_006713627;XP_006713628;XP_006713629;XP_006713630 Hs.744868 1650421;1679249;1684840;1687950;1694652;1735324;2114535;2168847;2168849;2178832;5037552;5109689 A005Y32;D3S2952E;D8S2279;D9S1004E;G20601;G31439;G43503;RH11764;RH46236;RH93844;SHGC-53479;STS-H73237 GID5;HSPC056;MGC10058;MGC4880;S863-2;VID28 GID complex subunit 5, VID28 homolog;OTTHUMP00000216633;OTTHUMP00000216634;OTTHUMP00000216635;OTTHUMP00000216636;OTTHUMP00000216637;OTTHUMP00000216638;OTTHUMP00000216639;OTTHUMP00000216640;OTTHUMP00000216641;armadillo repeat-containing protein 8 protein-coding ENSG00000114098 HGNC:24999 09992 VALIDATED 1348624 ARMC6 armadillo repeat containing 6 The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 19 19 19 p13.11 19049287 19073824 + 19144387 19168987 + 19033578 19058178 + 737633;6480464;8554872 12477932 15057824;15489334;17353931;18781797;19471022;20639865;20811636;21139048;21890473;21906983;21963094;21987572;22505724;22797925;23464991;24250222;24654937;24816145;25015289;8895530 93436 B4E1N1;F5GWV0;F5GYY4;F5GZP0;F5H052;F5H2K4;F5H2X2;F5H3X1;F5H3Y9;F5H4H6;F5H4P3;F5H6J3;F5H7V0;H0YGL0;H0YGQ5;H0YH65;Q6NXE6 ABBA01051306;ABBA01051307;ABBA01051308;AC003038;AC004447;AK295488;AK303914;AMYH02035749;AMYH02035750;AW615748;BC003700;BC056161;BC067125;BQ012036;BX648486;CH471106;CR749678;CX869901;NM_001199196;NM_033415;XM_005260157;XM_005260158;Z36779 AAD03162;AAH03700;AAH67125;BAG58410;BAG64843;CAH18469;EAW84775;EAW84776;NP_001186125;NP_219483;Q6NXE6;XP_005260214;XP_005260215 Hs.77876 1337320;1729413;1850732;1850734 D19S1018;D19S48;D19S566;RH77737 MGC19595;R30923_1 OTTHUMP00000240623;OTTHUMP00000240624;OTTHUMP00000240627;OTTHUMP00000240629;OTTHUMP00000240630;armadillo repeat-containing protein 6 APPROVED protein-coding ENSG00000105676 HGNC:25049 12488 REVIEWED 9586121 ARMC8P1 armadillo repeat containing 8 pseudogene 1 9 9 9 p13.1 38385714 38386438 - 38452782 38454367 - 38452785 38454370 - 100130871 ABBA01050379;AL390794;AMYH02019511;NG_028720 pseudo HGNC:49918 INFERRED 1604597 ARMC9 armadillo repeat containing 9 FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 2 2 2 q37.1 225838840 225986283 + 232063294 232238606 + 231198580 231373895 + 6480464 11076863;11230166;11347906;11691810;12477932;14702039;15489334;15489336;15815621;16344560;16381901;19056867;19913121;20379614;20628086;21832049;21890473;22863883;23400010;23955597;24049095;24816145;9847074 80210 C9J535;C9JW07;H7BZA2;H7BZY2;H7C2P6;H7C3U7;Q7Z3E5 AB058771;ABBA01002058;ABBA01002059;ABBA01002060;ABBA01002061;ABBA01002062;ABBA01002063;AC009407;AC018738;AK022646;AK027163;AK309395;AMYH02005964;AMYH02005965;AMYH02005966;AY219922;AY929062;BC004514;BC017229;BC065271;BM563736;BX537956;CA427360;CH471063;DA030137;HY022484;KF510790;KF510793;KF510794;NM_001271466;NM_001291656;NM_025139 AAH04514;AAH65271;AAO63554;AAX22760;BAB14153;BAB15678;BAB47497;CAD97923;CAL38172;EAW70950;EAW70951;EAW70952;EAW70953;EAW70954;EAW70955;EAW70956;NP_001258395;NP_001278585;NP_079415;Q7Z3E5 Hs.471610;Hs.744341 1339325;1340990;1651590;1682670;1693270;1718591;1754357;1779194;1783902;1847893;1852019;2129485;5014051;5015621;5015861;5020946;5022200;7185938 D10S16;D11S3732;D2S1335;D2S1392;D2S2193;D2S427;D8S2278;G27370;G42338;L17971;L18426;RH122981;RH91748;SHGC-106690;SHGC-132378;SHGC-152748;SHGC-24315 ARM;FLJ12584;KU-MEL-1;NS21 OTTHUMP00000164302;armadillo/beta-catenin-like repeats;lisH domain-containing protein ARMC9;melanoma/melanocyte specific protein KU-MEL-1;melanoma/melanocyte-specific tumor antigen KU-MEL-1 protein-coding ENSG00000135931 HGNC:20730 07778 VALIDATED 1602335 ARMCX2 armadillo repeat containing, X-linked 2 This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013] X X X q21.33-q22.2 101430845 101435442 - 100910267 100914894 - 101655281 101659891 - 6480464 11162520;12477932;15146197;15383276;15489334;15772651;16221301;21139048;22249249;22569362;24250222;8889548;9628581 9823 A8K5M7;F6R4S2;Q5H9D7;Q5H9D8;Q5H9E0;Q5H9E1;Q7L311 AB011084;ABBA01045009;AC234775;AK291342;AL709063;AMYH02040068;BC012541;BC015926;BC052628;BG548388;BM676866;BX648494;CH471115;CN391032;NG_013221;NM_001282231;NM_014782;NM_177949;XM_005278109;XM_005278110;XM_005278111;XM_005278113;XM_005278114;XM_005278115;XM_005278116;XM_005278117;Z83131 AAH12541;AAH15926;ABM84493;ABM85249;BAA25438;BAF84031;CAI42019;CAI42020;CAI42021;CAI42022;CAI42023;CAI42024;EAX02885;EAX02886;EAX02887;EAX02888;EAX02889;EAX02890;EAX02891;NP_001269160;NP_055597;NP_808818;Q7L311;XP_005278166;XP_005278167;XP_005278168;XP_005278170;XP_005278171;XP_005278172;XP_005278173;XP_005278174 Hs.48924 1644890;1644892;1702546;1849254;2109061;2159230 A001V26;ARMCX2_8998;DXS7453;G19687;RH46199;SGC30561 ALEX2;GASP9;KIAA0512;MGC13343;MGC8742 ARM protein lost in epithelial cancers on chromosome X 2;OTTHUMP00000023690;OTTHUMP00000023691;OTTHUMP00000023692;OTTHUMP00000023693;OTTHUMP00000023694;OTTHUMP00000023695;OTTHUMP00000023696;OTTHUMP00000023697;arm protein lost in epithelial cancers, X chromosome, 2;armadillo repeat protein ALEX2;armadillo repeat-containing X-linked protein 2 APPROVED protein-coding ENSG00000184867 HGNC:16869 02293 300363 REVIEWED 1345943 ARMCX1 armadillo repeat containing, X-linked 1 This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008] X X X q21.33-q22.2 101325006 101329176 + 100805466 100809683 + 101550531 101554700 + 1580863;6480464;8554872 11162520;12477932;14702039;15489334;15772651;16221301;16303743;20398052;22494058;22569362;23000965;8125298 51309 Q68D26;Q9P291 AB039670;ABBA01044999;AC234775;AF248963;AK074785;AK222578;AMYH02040067;AMYH02040068;BC002691;CH471115;CQ782722;CR749609;NG_015846;NM_016608;Z73913 AAG44561;AAH02691;ABM84422;ABM87397;BAA94603;BAC11208;BAD96298;CAF85956;CAH18404;CAI41999;EAX02874;EAX02875;NP_057692;Q9P291 Hs.9728 1649267;2134116;2180724 A008W48;RH18254;STS-Z40853 ALEX1;DKFZp686P06199;GASP7 ARM protein lost in epithelial cancers on chromosome X 1;OTTHUMP00000023686;arm protein lost in epithelial cancers, X chromosome, 1;armadillo repeat-containing X-linked protein 1 APPROVED protein-coding ENSG00000126947 HGNC:18073 02292 300362 REVIEWED 5144366 ARMCX3-AS1 ARMCX3 antisense RNA 1 (non-protein coding) X X q22.1 101398325 101399726 - 100877747 100879148 - 100128574 AADB02036910;ABBA01045007;AL121883;XM_001714987;XM_001722392;XM_001723116 XP_001715039;XP_001722444;XP_001723168 Hs.711860 protein-coding HGNC:41038 MODEL 5133068 ARMCX5-GPRASP2 ARMCX5-GPRASP2 readthrough This locus represents naturally occurring read-through transcription between the neighboring armadillo repeat containing, X-linked 5 and G protein-coupled receptor associated sorting protein 2 genes on chromosome X. The read-through transcript produces a protein identical to protein encoded by the downstream locus, G protein-coupled receptor associated sorting protein 2. [provided by RefSeq, Dec 2010] X X q22.1 101854276 101972661 + 102599348 102717733 + 8554872 11256614;14702039;15086532;15489334;15772651;20967262 100528062 Q96D09 ABBA01020952;ABBA01020953;ABBA01020954;ABBA01020955;ABBA01020956;ABBA01020957;ABBA01020958;ABBA01020959;ABBA01020960;ABBA01020961;ABBA01020962;ABBA01020963;ABBA01020964;AL035427;AL035551;AMYH02040161;BG392679;NM_001199818 NP_001186747;Q96D09 Hs.522729 1659996 RH78520 FLJ39373;KIAA1701 G-protein coupled receptor-associated sorting protein 2 APPROVED protein-coding HGNC:42000 VALIDATED 1604814 ARMCX3 armadillo repeat containing, X-linked 3 This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] X X X q22.1 101398698 101403409 + 100878117 100882833 + 101623127 101627843 + 6480464 11042152;11162520;12107410;12477932;12975309;15489334;15772651;16169070;16221301;17081983;17643375;18029348;19060904;19304657;21139048;21832049;21890473;22113938;22569362;22797925;22863883;22939629;23000965;23443559;23844091;8125298 51566 H3BM63;H3BV87;Q9UH62 AB039669;ABBA01045007;AC234775;AF211175;AK222655;AK291225;AL121883;AL708980;AMYH02040068;AY359079;BC005194;BG035798;BM905704;BU838618;BX647802;CA397688;CH471115;CR933656;NG_013222;NM_016607;NM_177947;NM_177948;XM_005262141 AAF24487;AAH05194;AAQ89438;ABM83965;ABM87279;BAA94602;BAD96375;BAF83914;CAI42939;CAI45955;EAX02880;EAX02881;EAX02882;EAX02883;EAX02884;NP_057691;NP_808816;NP_808817;Q9UH62;XP_005262198 Hs.592225 1787400;2116734 RH36341;SHGC-64837 ALEX3;DKFZp781N1954;GASP6;KIAA0443;MGC12199;dJ545K15.2 1200004E24Rik;ARM protein lost in epithelial cancers on chromosome X 3;OTTHUMP00000023688;arm protein lost in epithelial cancers, X chromosome, 3;armadillo repeat-containing X-linked protein 3 APPROVED protein-coding ENSG00000102401 HGNC:24065 02294 300364 REVIEWED 1350791 ARMCX5 armadillo repeat containing, X-linked 5 INTERACTS WITH copper atom; copper(0); cyclosporin A X X X q22.1-q22.3 102292727 102297718 + 101854096 101859087 + 102599168 102604159 + 737633;6480464 12477932 14702039;15342556;15489334;15772651;16221301;16344560;18029348;21139048;21906983;22569362;24778252 64860 Q6P1M9;S4R3L0;S4R3L5 ABBA01020952;AK023031;AK023444;AK096692;AL035551;AL537480;AMYH02040161;BC000792;BC022066;BC047679;BC050678;BC058904;BC064983;BE296807;BI765968;BP230064;BX352705;CH471190;CR749476;DA396979;DA558590;DA684921;DN991222;NG_016347;NM_001168478;NM_001168479;NM_001168480;NM_001168482;NM_001168485;NM_022838 AAH00792;AAH58904;AAH64983;ADR82760;BAB14367;BAG53350;CAH18306;EAW54732;EAW54733;EAW54734;NP_001161950;NP_001161951;NP_001161952;NP_001161954;NP_001161957;NP_073749;Q6P1M9 Hs.522729 2164469;2170462;5123807 A002R08;A006P15;DXS9778 DKFZp686A22185;FLJ12969;FLJ13382;GASP5 OTTHUMP00000023718;OTTHUMP00000023719;armadillo repeat-containing X-linked protein 5 protein-coding ENSG00000125962 HGNC:25772 06521 VALIDATED 9586338 ARMCX7P armadillo repeat containing, X-linked 7, pseudogene X X X q22.1 101371841 101372511 + 100852349 100853046 + 101597371 101598068 + 16221301;22569362 653354 ABBA01045003;AC234775;AL121883;AMYH02040068;NG_022684 ARMCX6-ps;GASP10ps pseudo HGNC:49917 INFERRED 1347581 ARMCX4 armadillo repeat containing, X-linked 4 The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] X X X q22.1 101192724 101307940 + 100673064 100790975 + 101418263 101535988 + 737633;6480464 12477932 11181995;14702039;15772651;16221301;16344560;17974005;22569362;7907279;9770300 100131755 D6RBS8;F8W8Y7;Q5H9R4;Q8N0S0 ABBA01044979;ABBA01044980;ABBA01044981;ABBA01044982;ABBA01044983;ABBA01044984;ABBA01044985;ABBA01044986;ABBA01044987;ABBA01044988;ABBA01044989;ABBA01044990;ABBA01044991;ABBA01044992;ABBA01044993;ABBA01044994;ABBA01044995;ABBA01044996;ABBA01044997;AC234775;AK096955;AK125041;AK126987;AK292543;AL035422;AL050285;AL133280;AMYH02040066;AMYH02040067;AY726601;BC032236;BC036206;CH471115;CR933662;DA450941;DA531702;KF459251;KF459252;KF459256;KF459263;KF459265;KF510605;NG_017196;NM_001256155;NM_152583;NR_028407;NR_045861;NR_045862;NR_045863;NR_045864;Z68873;Z69838 BAC04910;BAF85232;BAG54416;CAI45960;EAX02868;EAX02869;EAX02870;EAX02871;EAX02872;EAX02873;NP_001243084;Q5H9R4 Hs.729062 1335103;1664615;1678561;1681064;1685818;1686961;1702914;2116025;7184716 DXS178;DXS8089;DXS9783;RH65164;RH65720;RH91944;RH93397;RH94111 CXorf35;DKFZp586N0819;DKFZp781M0415;FLJ39636;FLJ43051;FLJ45041;GASP4;MGC40053 armadillo repeat containing, X-linked 4 pseudogene;armadillo repeat-containing X-linked protein 4 APPROVED protein-coding ENSG00000196440 HGNC:28615 VALIDATED 1346634 ARMD1 age-related macular degeneration 1 (senile macular degeneration) ASSOCIATED WITH Macular Degeneration, Age-Related, 1 (inferred) 7240710 9715689 404 HGNC:699 603075 1352776 ARMCX6 armadillo repeat containing, X-linked 6 FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; valproic acid; 1,3-dinitrobenzene (ortholog) X X X q21.33-q22.3 101390686 101393569 - 100870108 100872991 - 101615118 101618001 - 737633;1580863;6480464 12477932 14702039;15489334;15772651;16221301;16344560;17081983;17207965;22569362 54470 Q7L4S7 ABBA01045006;ABBA01045007;AC234775;AI076820;AK000818;AK097018;AL121883;AMYH02040068;AW955663;BC007677;BX423052;CH471115;DA933518;L20773;NG_021313;NM_001009584;NM_001184768;NM_019007;NR_033669;NR_033670;XM_006724665 AAH07677;ADQ31855;BAA91387;CAI42938;EAX02877;EAX02878;EAX02879;NP_001009584;NP_001171697;NP_061880;Q7L4S7;XP_006724728 Hs.83530 1655091;1776294;2109063;2157418;7184640 ARMCX6_9788;DXS178;DXS7495;RH1711;RH36040 FLJ20811;GASP10 OTTHUMP00000023687 protein-coding ENSG00000198960 HGNC:26094 06536 VALIDATED 736413 ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013] 15 15 15 q24 57634149 57827949 + 80696692 80890278 + 80404350 80597937 + 1580863;631760;6480464;6483352;6907045;8699517;8554872 12859947;22169972 10648817;11076863;11230166;11247670;11782478;12210012;12239177;12477932;14701734;15489334;15489336;16147992;16381901;16713569;17826745;17899366;18711365;19598235;20211142;20634891;20706985;21512513;21832049;21945317;21988832;23275444;23383108;24022475;24465693;24722188;24814368;24816145;8927054;9205841 9915 H0YKW1;Q7Z3A3;Q86TN1;Q9HBZ2;X5DQN9 AB002305;ABBA01060624;ABBA01060625;ABBA01060626;ABBA01060627;ABBA01060628;ABBA01060629;AC016705;AC108451;AF185610;AK295763;AMYH02030883;AMYH02030884;BC029293;BC036099;BC051335;BX538026;BX647212;CH471136;KF511219;KJ534772;KJ534773;KJ534986;KJ534995;KJ534996;KJ535008;KJ535009;KJ535057;NM_014862 AAG15310;AAH36099;AAH51335;ABM85102;ABM92227;AHW56412;AHW56413;AHW56626;AHW56635;AHW56636;AHW56647;AHW56648;AHW56696;BAA20766;BAG58589;CAD97972;CAL37851;EAW99114;NP_055677;Q9HBZ2 Hs.459070 1665323;1681769;1704112;1708994;1722009;1733646;1751903;1762155;1763451;1765583;1778764;1788714;1794654;1797298;2114896;2132393;2145237;2160067;2164288;2175009;5022200;5022820;5095124 1808;ARNT2,_C.1503+27G>C;ARNT2,_C.2028G>A;ARNT2_2060;D15S1510;D15S614E;D15S823;G59891;L18426;PMC343817P2;RH136634;RH44818;RH48627;RH66360;RH92809;SHGC-105794;SHGC-146049;SHGC-147162;SHGC-149043;SHGC-79562;SHGC-83380;STS-W45696;UniSTS:63083 KIAA0307;WEDAS;bHLHe1 ARNT protein 2;OTTHUMP00000229925;aryl hydrocarbon receptor nuclear translocator 2;class E basic helix-loop-helix protein 1 APPROVED protein-coding ENSG00000172379 HGNC:16876 606036;615926 REVIEWED 1606093 ARMS2 age-related maculopathy susceptibility 2 This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration. [provided by RefSeq, Oct 2008] 10 10 10 q26.13 117946434 117949123 + 124214179 124216868 + 122454663 122457352 + 7240710 12477932;16080115;16174643;16642439;16954704;17000705;17194541;17285240;17325155;17347568;17352366;17426452;17456821;17485225;17675241;17692272;17846368;17884985;18054635;18061132;18079691;18161619;18162041;18164066;18248681;18292785;18325906;18400199;18423869;18436811;18452766;18461138;18493315;18511946;18515590;18544707;18569809;18682806;18682812;18688167;18762075;18855541;18936151;19001225;19048105;19065273;19117936;19168221;19169232;19197355;19202148;19255159;19259132;19268887;19491722;19568762;19661236;19680273;19796758;19797206;19822855;19823576;19845562;19892838;19898184;19933179;19933195;19948975;20007824;20022638;20042647;20140183;20157352;20157618;20238042;20346514;20378180;20381870;20385819;20385826;20413980;20456446;20574013;20664794;20664795;20671585;20688737;20801516;20861866;20878164;20881291;20888482;21031019;21106043;21122828;21191724;21203342;21236409;21252205;21282580;21397333;21541271;21665990;21784201;21790300;21816153;21825189;21855673;21896867;21959923;22035603;22065928;22133792;22138417;22219653;22232482;22293892;22481475;22487577;22491416;22509112;22552255;22694956;22705344;22809783;22840423;22893087;22977134;23060141;23098369;23111182;23112567;23289807;23289808;23296223;23315805;23326481;23326517;23337555;23362846;23414945;23455636;23494043;23572227;23577725;23582991;23592919;23687431;23697955;23867343;23942973;23959158;23972322;24013816;24217333;24397185;24453474;24557084;24612979;24781946 387715 P0C7Q2 ABBA01062845;AMYH02023950;BC066349;BC090924;BX842242;EU427528;NG_011725;NM_001099667 AAI60152;ACA35288;NP_001093137;P0C7Q2 Hs.120359 ARMD8 OTTHUMP00000235364;age-related maculopathy susceptibility protein 2 APPROVED protein-coding ENSG00000254636 HGNC:32685 611313 REVIEWED 732739 ARNT aryl hydrocarbon receptor nuclear translocator This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013] 1 1 1 q21 123898224 123964878 - 150782181 150849244 - 150809705 150876768 - 734608;1580863;634668;2313995;2313996;6480464;6483352;6484113;6907045;8554872 10829078;12586752;16096055;18366646;22169972 10395741;10471301;10594042;10692439;10777486;10999956;11013261;11129342;11259606;11259609;11393538;11502749;11756572;11768231;11782478;11835227;11879970;12024042;12032587;12065584;12354770;12477932;12754377;12774124;1317062;1448077;14638687;14701734;15190133;15231748;15319539;15347669;15368494;15485806;15492120;15635607;15837795;16007214;16084889;16111650;16129408;16364012;16410262;16520375;16554418;16567799;17207965;17559847;18029348;18174159;18375543;18381358;1852076;18568448;18632753;18676680;18762723;18949049;19018768;19030229;19129502;19131627;19170196;19203995;19251700;19287200;19322201;19390533;19416713;19625176;19692168;19730683;19828131;19850893;19913121;20049704;20453000;20478051;20508969;20562859;20628086;20634891;20699359;20804916;21081473;21199896;21298084;21435239;21462134;21512126;21544813;21742528;21828933;21983785;21988832;22183315;22211302;22235307;22306343;22328528;22387692;22505606;22903824;23116263;23263486;23275444;23448877;23541582;23585552;23907215;24220583;24249660;24371328;24618291;24664708;24816145;24990649;7488247;7539918;7628454;7716743;8065341;8089148;8125298;8244375;8384309;8621524;8663540;8756616;8794892;8889548;8927054;8940186;9020169;9079689;9111057;9113979;9271372;9328285;9704006;9712901;9887096 405 A6NGV6;A8K6P0;B0AZM1;D6RDB3;P27540;Q53F30 A92931;AB209877;ABBA01049354;ABBA01049355;ABBA01049356;ABBA01049357;ABBA01049358;AF001307;AK223459;AK290177;AK291705;AK293027;AK304772;AK313780;AK315812;AL137290;AL355860;AL834279;AMYH02001863;AMYH02001864;AY430083;BC028362;BC041121;BC060838;BU730937;CH471121;M69238;NG_028248;NM_001197325;NM_001286035;NM_001286036;NM_001668;NM_178427;XM_005245151;XM_005245153;XM_005245154;XM_005245157;Y18500;Y18859 AAA51777;AAC03365;AAH60838;AAQ96598;ADQ33017;BAD93114;BAD97179;BAF82866;BAF84394;BAF85716;BAF98703;BAG36518;BAG65527;CAB65056;CAB69528;CAC21446;CAD38953;EAW53510;EAW53511;EAW53512;EAW53513;EAW53514;NP_001184254;NP_001272964;NP_001272965;NP_001659;NP_848514;P27540;XP_005245208;XP_005245210;XP_005245211;XP_005245214 Hs.632446 1660066;1666356;1683010;1723445;1770700;1797300;1852554;2137707;2175898 ARNT_2212;D1S3204;D1S3284;G15891;RH118541;RH11989;RH93022;SGC30626;WI-16757 HIF-1-beta;HIF-1beta;HIF1-beta;HIF1B;HIF1BETA;bHLHe2 OTTHUMP00000032943;OTTHUMP00000218217;OTTHUMP00000218218;OTTHUMP00000218219;OTTHUMP00000218220;TANGO;class E basic helix-loop-helix protein 2;dioxin receptor, nuclear translocator;hypoxia-inducible factor 1, beta subunit;hypoxia-inducible factor 1-beta APPROVED protein-coding ENSG00000143437 HGNC:700 00524 126110 REVIEWED 732520 ARNTL aryl hydrocarbon receptor nuclear translocator-like The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 p15 13425472 13534997 + 13299325 13408813 + 13277734 13387266 + 734609;1580863;6480464;8554872 11163178 10531061;11439184;11441146;11875063;12397359;12477932;12738229;12897057;14645221;14701732;14701734;14702039;14750904;15193144;16474406;16507006;16528748;16628007;17274950;17457720;17728404;17994337;18228528;18411297;18430226;18517031;18587630;18644859;18662547;18663240;19277210;19296127;19328558;19460752;19470168;19693801;19839995;19861541;19861640;19912323;19913121;19922678;19934327;20072116;20174623;20180986;20222832;20368993;20446921;20551151;20554694;20628086;20819778;20861012;21102462;21363938;21380491;21411511;21799909;21966465;21990077;22105622;22217103;22510946;22990020;23003921;23033538;23129285;23206673;23229515;23323702;23337503;23358160;23395176;23449886;23503662;23546644;23563360;23584858;23602568;23606611;24005054;24103761;24418196;24722188;24728990;9079689;9144434;9576906;9616112;9704006;9989497 406 E9PI92;E9PKF0;E9PKG7;E9PKN1;E9PL54;E9PNI4;E9PPV4;E9PRB1;E9PSD2;H0YER9;O00327 AB000812;AB000813;AB000814;AB000815;AB000816;ABBA01061125;AC016884;AC022878;AF044288;AK095749;AK128317;AK291510;AK315174;AMYH02024350;BC016674;BC031214;BC041129;BE391243;CH471064;D89722;EF015894;NM_001030272;NM_001030273;NM_001178;NM_001297719;NM_001297722;NM_001297724;U51627;U60415;XM_005252928;XM_005252929;XM_005252930;XM_006718233;XM_006718234;XM_006718235 AAB37248;AAC24353;AAC51213;AAH16674;AAH31214;AAH41129;ABM64205;ABZ91992;ADZ15602;BAA19935;BAA19936;BAA19937;BAA19938;BAA19939;BAA19968;BAF84199;BAG37615;BAG53120;EAW68503;EAW68504;EAW68505;EAW68506;EAW68507;EAW68508;EAW68509;EAW68510;EAW68511;EAW68512;EAW68513;NP_001025443;NP_001025444;NP_001169;NP_001284648;NP_001284651;NP_001284653;O00327;XP_005252985;XP_005252986;XP_005252987;XP_006718296;XP_006718297;XP_006718298 Hs.65734 1339434;1340742;1724021;1740815;1775893;1795400;1853745;5491449 ARNTL_1824;D11S1794;D11S4441;D6S1560;MARC_12777-12778:999891099:1;RH119816;RH78096;WI-14129 BMAL1;BMAL1c;JAP3;MGC47515;MOP3;PASD3;TIC;bHLHe5 ARNT-like protein 1, brain and muscle;OTTHUMP00000197997;OTTHUMP00000197998;OTTHUMP00000197999;OTTHUMP00000198000;OTTHUMP00000198001;PAS domain-containing protein 3;aryl hydrocarbon receptor nuclear translocator-like protein 1;bHLH-PAS protein JAP3;basic-helix-loop-helix-PAS orphan MOP3;basic-helix-loop-helix-PAS protein MOP3;brain and muscle ARNT-like 1;class E basic helix-loop-helix protein 5;member of PAS protein 3;member of PAS superfamily 3 APPROVED protein-coding ENSG00000133794 HGNC:701 03973 602550 REVIEWED 8548988 ARNTL2-AS1 ARNTL2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 12 12 p11.23 27542722 27599591 - 27389789 27446634 - 8554872 12477932 101928646 ABBA01068048;AC068794;AC092829;AMYH02026244;AMYH02026245;AMYH02026246;BC043511;BU568793;HG504626;NR_109975 Hs.434269 ncrna ENSG00000245311 HGNC:49892 VALIDATED 737603 ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 12 12 12 p12.2-p11.2 32631579 32719063 + 27485787 27578746 + 27332854 27425813 + 1580863;2314371;2314359;6480464;8554872 16893914;17728404 10737800;10864977;10964693;11018023;11554928;12055078;12477932;12738229;14701734;15147242;15489334;18228528;18663240;19470168;19605937;19693801;19839995;19850743;19913121;20072116;20174623;20180986;20368993;20554694;20628086;21658431;22198637;24722188 56938 H0Y5R1;Q8WYA1 AB039921;ABBA01068047;ABBA01068048;AC068794;AC092829;AF231338;AF231339;AF246960;AF246961;AF246962;AF246963;AF256215;AK296706;AMYH02026244;AMYH02026245;BC000172;BC125061;BC125062;BQ774827;CH471094;CV388040;GM828357;KF455621;NG_030359;NM_001248002;NM_001248003;NM_001248004;NM_001248005;NM_020183;XM_006719112;XM_006719113;XM_006719114 AAF71306;AAF71307;AAG34652;AAH00172;AAI25062;AAI25063;AAL50339;AAL50340;AAL50341;AAL50342;BAB01485;BAH12415;CAV28553;EAW96552;EAW96553;EAW96554;NP_001234931;NP_001234932;NP_001234933;NP_001234934;NP_064568;Q8WYA1;XP_006719175;XP_006719176;XP_006719177 Hs.445447 1681963;1726087;1726143;5015619;5021874;5022651;5109281 D11S2921;D11S3114;D1S1425;G62259;G62346;RH99013;ha1237 BMAL2;CLIF;MGC149671;MGC149672;MOP9;PASD9;bHLHe6 CYCLE-like factor;OTTHUMP00000240584;OTTHUMP00000240585;OTTHUMP00000240586;OTTHUMP00000240587;OTTHUMP00000240588;OTTHUMP00000240589;OTTHUMP00000240590;OTTHUMP00000240591;PAS domain-containing protein 9;aryl hydrocarbon receptor nuclear translocator-like protein 2;basic-helix-loop-helix-PAS protein MOP9;brain and muscle ARNT-like 2;class E basic helix-loop-helix protein 6;member of PAS protein 9;transcription factor BMAL2 APPROVED protein-coding ENSG00000029153 HGNC:18984 16507 614517 REVIEWED 1344294 ARPC1A actin related protein 2/3 complex, subunit 1A, 41kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 7 7 7 q22.1 93657670 93698057 + 98923496 98963885 + 99325873 99366262 + 631743;1580863;2317557;6480464;6907045 19145645;9230079 12477932;12690205;12853948;15489334;15635413;16344560;17072959;17086175;17353931;18187620;19056867;19322201;20570966;21139048;21533175;21890473;21906983;22863883;22939629;24250222;8125298;8978670;9359840 10552 E9PF58;F8WFD3;Q92747;V9HVZ6 AB209059;ABBA01013265;ABBA01013266;ABBA01013267;AC004834;AC004922;AK223015;AMYH02016360;BC006445;BC039594;BC047889;BC054027;BM924483;CH236956;CH471091;DA089818;EU668326;NM_001190996;NM_006409;Y08999 AAH39594;AAH47889;AAH54027;AAS00381;ACE86776;ACE87462;ACF94479;ADZ15604;BAD92296;BAD96735;CAA70203;EAL23883;EAW76681;EAW76682;EAW76683;NP_001177925;NP_006400;Q92747 Hs.124126 2168965;5020853;5113457 D7S2721;RH11961;SHGC-5612 Arc40;HEL-68;SOP2Hs;SOP2L OTTHUMP00000206032;OTTHUMP00000206034;SOP2-like protein;actin binding protein (Schizosaccharomyces pombe sop2-like);actin-related protein 2/3 complex subunit 1A;epididymis luminal protein 68 APPROVED protein-coding ENSG00000241685 HGNC:703 07252 604220 REVIEWED 736395 ARPC1B actin related protein 2/3 complex, subunit 1B, 41kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011] 7 7 7 q22.1 93706528 93726623 + 98972298 99004226 + 99374675 99394801 + 631743;1580863;6480464;6484113;6907045 9230079 11162547;11533442;11721045;11741539;11943145;12115587;12477932;12665801;12690205;12853948;14749719;15279900;15489334;15635413;15894313;16344560;16723437;17353931;20603326;20876399;21139048;21628992;21832049;21890473;21906983;22863883;22939629;23000965;23398456;23602568;24654937;24816145;25027693;8619474;9110174;9126924;9359840 10095 A4D275;C9J4Z7;C9J6C8;C9JBJ7;C9JEY1;C9JFG9;C9JM51;C9JQM8;C9JTT6;C9K057;F8VXW2;F8WEB3;O15143 ABBA01013264;ABBA01013265;AC004922;AF006084;AK314818;AMYH02016360;AU143525;AY007111;BC002562;BC002988;BC007555;CH236956;CH471091;NM_005720;XM_006715825;XM_006715826 AAB64189;AAH02562;AAH02988;AAH07555;ABM83095;ABM86289;BAG37341;EAL23882;EAW76677;EAW76678;EAW76679;EAW76680;NP_005711;O15143;XP_006715888;XP_006715889 Hs.489284 1663900;1673482;1683475;2133778;2135340 A008N20;GDB:4585391;RH16605;RH47278;RH75270 ARC41;p40-ARC;p41-ARC ARP2/3 protein complex subunit p41;OTTHUMP00000206018;OTTHUMP00000206020;actin related protein 2/3 complex, subunit 1b;actin-related protein 2/3 complex subunit 1B;arp2/3 complex 41 kDa subunit APPROVED protein-coding ENSG00000130429 HGNC:704 10366 604223 REVIEWED 1314126 ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q36.1 212848449 212885654 + 219081817 219119071 + 218217094 218254348 + 631743;1580863;6480464;6484113;6907045;8554872 9230079 10235267;11018051;11162547;11721045;11741539;11882288;11943145;12477932;12665801;14702039;15146197;15279900;15489334;15635413;15793564;16027158;16300736;17350576;17353931;18029348;18560548;18708039;18836448;19056867;19861958;20308062;20603326;20876399;20974812;21139048;21251247;21319273;21890473;21906983;21963094;21975549;22188208;22261722;22505724;22863883;22939629;23000965;23119100;23128233;23148219;23251661;23383273;23824909;24250222;24816145;25027693;8812419;9359840 10109 C9JTV5;G5E9J0;G5E9S7;H7C3F9;O15144;Q53R19 ABBA01023875;ABBA01023876;AC021016;AC097483;AF006085;AF279893;AK092520;AK093625;AK290268;AMYH02005785;AMYH02005786;BC000590;BG282181;BG765898;BT006898;CH471063;CN291458;NM_005731;NM_152862;U50523;XM_006712173 AAB64190;AAC50874;AAH00590;AAK07550;AAP35544;AAX93213;BAF82957;EAW70591;EAW70592;EAW70593;EAW70594;EAW70595;EAW70596;EAW70597;NP_005722;NP_690601;O15144;XP_006712236 Hs.529303 1767437;1797074;2137663;2184289;5016478;5022322;5024756 ARPC2_(3);D11S2560;D2S2896;G16343;GDB:434012;RH80030;STS-U50523 ARC34;PNAS-139;PRO2446;p34-Arc ARP2/3 protein complex subunit 34;OTTHUMP00000164144;OTTHUMP00000165866;actin-related protein 2/3 complex subunit 2;arp2/3 complex 34 kDa subunit APPROVED protein-coding ENSG00000163466 HGNC:705 10367 604224 REVIEWED 4890650 ARPC3P2 actin related protein 2/3 complex, subunit 3 pseudogene 2 1 1 1 q32.3 184842175 184842704 + 211615616 211616145 + 211442254 211443003 + 391160 ABBA01048191;AL590101;AMYH02002624;NG_022826 pseudo HGNC:39431 INFERRED 1323728 ARPC3 actin related protein 2/3 complex, subunit 3, 21kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] 12 12 12 q24.11 110499460 110514921 - 110872695 110888222 - 110434890 110450411 - 631743;1580863;6480464;6484113;6907045 9230079 11018051;11146629;11162547;11721045;11741539;11790298;12477932;12665801;12769847;15489334;15635413;15793564;16169070;17207965;17353931;18781797;19056867;19738201;19946888;21139048;21251247;21890473;21900206;21906983;21963094;21987572;22053931;22505724;22623428;22863883;22939629;23000965;23148219;24816145;9000076;9359840;9889097 10094 C9JZD1;F8VR50;O15145 ABBA01005107;ABBA01005108;ABBA01005109;AC144548;AF004561;AF006086;AI144468;AK297309;AK311789;AMYH02027185;BC067747;BC078162;BF434378;BG620669;BG723870;BM999380;CH471054;CR407667;DQ328220;NM_001278556;NM_001287222 AAB61466;AAB64191;AAH67747;AAH78162;ABC59627;ADQ32064;BAG34732;BAG59775;CAG28595;EAW97912;EAW97913;NP_001265485;NP_001274151;O15145 Hs.524741 1687291;2168606 RH48745;RH98959 ARC21;p21-Arc ARP2/3 protein complex subunit p21;OTTHUMP00000166104;OTTHUMP00000166106;actin-related protein 2/3 complex subunit 3;arp2/3 complex 21 kDa subunit APPROVED protein-coding ENSG00000111229 HGNC:706 09175 604225 REVIEWED 4890511 ARPC3P3 actin related protein 2/3 complex, subunit 3 pseudogene 3 11 11 11 q21 91209240 91210024 - 93921370 93922202 - 94188204 94189036 - 729494 ABBA01040034;AMYH02025373;AP002784;NG_021798 pseudo HGNC:39432 INFERRED 1353664 ARPC3P1 actin related protein 2/3 complex, subunit 3 pseudogene 1 20 20 20 q13.13 44455619 44456422 + 47750988 47751791 + 49134451 49135273 + 17353931 87171 ABBA01052735;AL133174;AMYH02037204;NG_002363;NG_029453 1687291 RH98959 ARPC3B;dJ470L14.3 APPROVED pseudo HGNC:16092 INFERRED 4890485 ARPC3P4 actin related protein 2/3 complex, subunit 3 pseudogene 4 11 11 11 70939419 70940187 - 73632439 73633272 - 73921404 73922227 - 100421973 ABBA01017500;AMYH02025101;AP002770;NG_024384 pseudo HGNC:39434 INFERRED 4890724 ARPC3P5 actin related protein 2/3 complex, subunit 3 pseudogene 5 6 6 6 p22.3 17172922 17173693 + 15934974 15935745 + 15934743 15935514 + 441131 ABBA01022176;AL365265;AMYH02013175;NG_022345 pseudo HGNC:39435 INFERRED 1320803 ARPC4 actin related protein 2/3 complex, subunit 4, 20kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010] 3 3 3 p25.3 9768927 9783489 + 9834082 9848789 + 9792495 9807105 + 631743;6480464;6484113;6907045 9230079 11018051;11162547;11721045;11741539;12451597;12477932;12665801;12769847;14702039;15489334;15635413;16169070;16300736;16344560;17274980;17353931;18781797;18805923;19056867;19322201;19738201;20404198;20876399;20959098;21139048;21890473;21906983;21963094;21987572;22505724;22623428;22863883;22939629;23000965;23125841;23148219;23267127;23894563;24457600;24816145;9359840 10093 F8WDD7;F8WDW3;P59998;R4GN08 ABBA01020399;ABBA01020400;AC022382;AF006087;AF019888;AI612891;AK074205;AMYH02006236;AW408422;BC012596;BC065423;BG938423;BI768875;BI910730;BM045872;BQ688329;BX419672;CH471055;DA226584;DA909066;DB060690;NM_001024959;NM_001024960;NM_001198780;NM_005718 AAB64192;AAB71548;AAH12596;AAI52791;EAW63998;EAW64001;NP_001020130;NP_001020131;NP_001185709;NP_005709;P59998 Hs.323342 2157666;2161323 RH65849;SHGC-76697 ARC20;MGC13544;p20-Arc Arp2/3 protein complex subunit p20;OTTHUMP00000165252;OTTHUMP00000207518;OTTHUMP00000207520;OTTHUMP00000233907;actin-related protein 2/3 complex subunit 4;arp2/3 complex 20 kDa subunit APPROVED protein-coding HGNC:707 10368 604226 REVIEWED 1323427 ARPC5 actin related protein 2/3 complex, subunit 5, 16kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 1 1 1 q25.3 156706364 156716017 - 183595328 183605076 - 183626193 183635941 - 631743;1580863;6480464;6484113;6907045 9230079 10508170;11162547;11721045;11741539;12451597;12477932;12665801;12829704;14702039;15146197;15489334;16710414;17207965;17353931;17620599;19056867;19322201;19615732;20876399;21139048;21281821;21890473;21906983;21963094;22089643;22378351;22505724;22863883;22939629;23148219;24250222;24816145;9359840 10092 B1ALC0;O15511 ABBA01027747;AF006088;AF017807;AI148784;AK095424;AK129598;AL137800;AMYH02002284;BC057237;BC071857;BI758106;CH471067;CN291383;NM_001270439;NM_005717 AAB64193;AAB70561;AAH57237;AAH71857;AAI52790;ADQ32213;BAG53053;EAW91163;EAW91164;NP_001257368;NP_005708;O15511 Hs.518609 1653221;1667009;1676926;1690320;1849758 RH12696;RH76379;RH78011;SHGC-56746;SHGC-75978 ARC16;MGC88523;dJ127C7.3;p16-Arc Arp2/3 protein complex subunit p16;OTTHUMP00000033266;OTTHUMP00000033267;OTTHUMP00000038626;actin-related protein 2/3 complex subunit 5;arp2/3 complex 16 kDa subunit APPROVED protein-coding HGNC:708 11969 604227 REVIEWED 5013864 ARPC4-TTLL3 ARPC4-TTLL3 readthrough This locus represents naturally occurring read-through transcription between the neighboring ARPC4 (actin related protein 2/3 complex, subunit 4) and TTLL3 (tubulin tyrosine ligase-like family, member 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 3 3 p 9834232 9878040 + 9792548 9836356 + 6480464 12477932;14702039;20967262;21890473;21906983;21963094;23000965 100526693 F8WCF6;F8WE39;H7C0A3;P59998 ABBA01020398;ABBA01020399;ABBA01020400;AC018809;AC022382;AK024110;AMYH02006236;AMYH02006237;BC025289;NM_001198793 BAB14828;NP_001185722 Hs.323342 1778680;1855946;2110003;2180457 RH17932;RH47393;SHGC-33325;TTLL3_9463 FLJ14048 ARPC4-TTLL3 fusion protein;ARPC4-TTLL3 read-through transcript;OTTHUMP00000220174;OTTHUMT00000364820 APPROVED protein-coding ENSG00000250151 HGNC:38830 VALIDATED 1604167 ARPIN actin-related protein 2/3 complex inhibitor INVOLVED IN directional locomotion; negative regulation of actin nucleation; negative regulation of cell migration; FOUND IN lamellipodium (ortholog); INTERACTS WITH (+)-catechin; 17beta-estradiol; copper(2+) sulfate 15 15 15 q26.1 66846848 66859238 - 90443832 90456222 - 89896532 89912990 - 6480464 11181995;12477932;14702039;15489334;16344560;17207965;20585627;21139048;21890473;22412018;23000965;24132237 348110 H0YL03;H0YMP5;Q7Z6K5 ABBA01053029;ABBA01053030;ABBA01053031;AC027176;AK055252;AK093274;AMYH02031029;BC053602;BM023230;CH471101;DB285255;NM_001282380;NM_182616 AAH53602;ADQ32596;EAX02076;EAX02077;EAX02078;NP_001269309;NP_872422;Q7Z6K5 Hs.6734;Hs.744890 2111180 D15S223E C15orf38;MGC61550 OTTHUMP00000205867;UPF0552 protein C15orf38;arp2/3 inhibition protein;hypothetical protein LOC348110 APPROVED protein-coding HGNC:28782 14697 615543 VALIDATED 6481301 ARPP21-AS1 ARPP21 antisense RNA 1 100874098 AC016943 APPROVED ncrna HGNC:40785 1606318 ARPP19 cAMP-regulated phosphoprotein, 19kDa The 19-kD cAMP-regulated phosphoprotein plays a role in regulating mitosis by inhibiting protein phosphatase-2A (PP2A; see MIM 176915) (summary by Gharbi-Ayachi et al., 2010 [PubMed 21164014]).[supplied by OMIM, Feb 2011] 15 15 15 q21.2 29734478 29756262 - 52839384 52861436 - 52547225 52569239 - 6480464 10754390;11279279;11771749;12477932;14702039;15489334;17893145;19322201;20098747;20471941;21164014;21509594;2160982;21832049;21890473;23000965;24816145;8120638;8687439;9653196 10776 H3BMD8;H3BQ52;H3BTD3;P56211 ABBA01039060;ABBA01039061;AC025917;AF084555;AJ223091;AK023195;AK123616;AK311751;AL833077;AMYH02030452;AMYH02030453;AW407610;BC003418;BC100015;BQ422616;CH471082;CR457132;NM_006628;XM_005254132;XM_005254133;XM_005254134;XM_005254135 AAD52044;AAH03418;AAI00016;BAG34694;CAA11115;CAD89929;CAG33413;EAW77454;EAW77455;NP_006619;P56211;XP_005254189;XP_005254190;XP_005254191;XP_005254192 Hs.512908 1664249;1682898;1694614;1734836;1774976;1778983;1856137;5020948;5022200;5022450 D10S275;D15S1182;D1S2237;D2S1588E;G35510;G43323;L18426;RH44327;RH46469;STS-AA040764 ARPP-16;ARPP-19;ARPP16;FLJ41622 ENSAL;cAMP-regulated phosphoprotein 19;cyclic AMP phosphoprotein, 19 kD;endosulfine alpha-like APPROVED protein-coding ENSG00000128989 HGNC:16967 09264 605487 VALIDATED 1318888 ARPC5L actin related protein 2/3 complex, subunit 5-like ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN regulation of actin filament polymerization (inferred); PARTICIPATES IN pathogenic Escherichia coli infection pathway; Shigella infection pathway; FOUND IN extracellular vesicular exosome; focal adhesion; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 9 9 9 q33.3 98279433 98287649 + 127626267 127640012 + 124862130 124877733 + 1580863;6480464;6907045 12451597;12477932;14702039;15164053;15489334;16169070;17081983;17207965;17353931;17620599;19056867;21139048;21693764;21906983;21963094;21987572;21988832;22863883;22939629;24816145 81873 Q9BPX5 ABBA01043758;AF087842;AK056174;AK315604;AL354928;AMYH02021636;BC000018;BC000798;BC002418;BC031388;CH471090;NM_030978;XM_005252250 AAH00018;AAH00798;AAH02418;AAP97155;ADQ33175;BAG51639;EAW87603;EAW87604;NP_112240;Q9BPX5;XP_005252307 Hs.132499 1657352;1851588;2148220;2186971;2186973 G19389;RH1557;RH41807;SGC32156;WI-20843 ARC16-2;MGC3038 OTTHUMP00000022110;OTTHUMP00000022111;actin-related protein 2/3 complex subunit 5-like protein;arp2/3 complex 16 kDa subunit 2 protein-coding ENSG00000136950 HGNC:23366 12490 PROVISIONAL 1606317 ARPP21 cAMP-regulated phosphoprotein, 21kDa This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 3 3 3 p22.3 35625833 35777956 + 35680666 35835988 + 35639174 35794496 + 6480464;8554872 10854908;10931946;12477932;14702039;15144186;15489334;15499021;16344560;17207965;19734545;20379614;21044950;21116278;24127197;24816145;8120638;8889548 10777 A8K0T4;A8K1F3;AAB30130;C9J091;C9J2U3;C9J5R1;C9JD93;C9JI74;C9JQQ6;C9JTF2;C9JTX6;F8WDL2;H7C0P9;H7C1B6;H7C2X8;H7C3J7;Q9UBL0 ABBA01024877;AC016943;AC104308;AC133143;AF112220;AK055064;AK091377;AK093648;AK289649;AK289868;AK294484;AL133109;AMYH02006540;AMYH02006541;AV718064;AV718166;BC017805;BC031106;BC036399;BC036548;BC041385;BC051828;BC066651;BG535216;BQ423297;BU741999;BX488342;BX537647;CH471055;DA275579;NM_001025068;NM_001025069;NM_001267616;NM_001267617;NM_001267618;NM_001267619;NM_016300;NM_198399;XM_005264810;XM_005264811;XM_005264812;XM_005264813;XM_005264815;XM_005264816;XM_006712942;XM_006712943;XM_006712944;XM_006712945 AAB30130;AAF17207;AAH17805;AAH31106;AAH36399;AAH41385;AAH51828;AAH66651;ACE86449;ACE87125;ADQ32260;BAF82338;BAF82557;BAG51459;BAG57707;CAB61414;EAW64470;EAW64471;EAW64472;NP_001020239;NP_001020240;NP_001254545;NP_001254546;NP_001254547;NP_001254548;NP_057384;NP_938409;Q9UBL0;XP_005264867;XP_005264868;XP_005264869;XP_005264870;XP_005264872;XP_005264873;XP_006713005;XP_006713006;XP_006713007;XP_006713008 Hs.475902 1651868;1653307;1667713;1680579;1697418;1721613;1735078;1739039;1773530;1787784;1788926;1854115;2156220;5123929 D3S2765E;D3S3241;G59816;RH102209;RH71422;RH79954;SHGC-173166;SHGC-32030;SHGC-76804;SHGC-76823;SHGC-76827;UniSTS:224247;WI-10468;WI-16264 ARPP-21;FLJ32997;R3HDM3;RCS;TARPP OTTHUMP00000161358;OTTHUMP00000208635;OTTHUMP00000208636;OTTHUMP00000208637;OTTHUMP00000208638;OTTHUMP00000208639;OTTHUMP00000208640;OTTHUMP00000208641;OTTHUMP00000208646;OTTHUMP00000208647;OTTHUMP00000208648;OTTHUMP00000208649;OTTHUMP00000208651;OTTHUMP00000208652;OTTHUMP00000208653;OTTHUMP00000208654;OTTHUMP00000208656;OTTHUMP00000208657;OTTHUMP00000208658;R3H domain containing 3;cAMP-regulated phosphoprotein 21;cyclic AMP-regulated phosphoprotein, 21 kD;thymocyte cAMP-regulated phosphoprotein APPROVED protein-coding ENSG00000172995 HGNC:16968 09265 605488 REVIEWED 1350252 ARR3 arrestin 3, retinal (X-arrestin) ENCODES a protein that exhibits opsin binding (inferred); phosphoprotein binding (inferred); INVOLVED IN endocytosis (inferred); regulation of protein phosphorylation (inferred); signal transduction (inferred); PARTICIPATES IN eicosanoid signaling pathway; visual phototransduction pathway; FOUND IN photoreceptor inner segment; INTERACTS WITH paclitaxel; paracetamol; ammonium chloride (ortholog) X X X cen-q21 69841522 69855024 + 69488185 69501691 + 70268335 70281993 + 1580863;724592;6480464;6893539;6893556;6484113 11934883;21824527;22074925 11063754;11729201;11877451;12477932;12486395;12824223;12850288;12853434;12918707;15489334;15772651;16169070;16189514;17353931;17620599;17680991;17846866;17947233;18802075;19001375;20056609;20460384;20505072;21112970;21118812;21203429;21466165;22242112;22378779;22523077;23139825;24292834;24412749;8224247;8308033;8612728;9169477;9827808;9852134;9931451 407 D6RCT3;P36575 ABBA01067552;ABBA01067553;ABBA01067554;AF033105;AF076512;AL357752;AMYH02039655;AMYH02039656;BC012096;BG472156;CH471132;CR456849;EU883571;NM_004312;U03626;XM_006724651 AAB84302;AAC27524;AAC78395;AAH12096;ABM83169;ABM86370;ACG60645;CAG33130;EAX05348;EAX05349;EAX05350;EAX05351;NP_004303;P36575;XP_006724714 Hs.308 1772605;1848407;2147556 DXS7111;L77849;SHGC-30005 ARRX;cArr C-arrestin;OTTHUMP00000023466;OTTHUMP00000023467;X-arrestin;arrestin 4;arrestin-C;cone arrestin;retinal cone arrestin-3 protein-coding ENSG00000120500 HGNC:710 02358 301770 VALIDATED 1343340 ARRDC1-AS1 ARRDC1 antisense RNA 1 This transcribed locus is thought to be non-coding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 9 9 9 q34.3 111033445 111036970 - 140509784 140513308 - 137615332 137618856 - 6480464 10931946;12477932;15164053;24250222 85026 Q9H2J1 ABBA01022779;AF267857;AL365502;AL516492;AMYH02021945;AW015916;BC011781;BC066646;BC117267;CH471090;CX164735;DB727790;LN608321;NG_011776;NM_032937;NR_122035;NR_122036 AAG44726;AAH66646;AAI17268;ADR82841;EAW88407;EAW88408;NP_116326;Q9H2J1 Hs.522520 AD038;C9orf37 OTTHUMP00000022697;uncharacterized protein C9orf37 APPROVED ncrna HGNC:23395 12955 VALIDATED 732370 ARRB1 arrestin, beta 1 Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011] 11 11 11 q13 72283036 72369427 - 74971166 75062875 - 75260122 75351831 - 1580863;1578803;4140419;5133417;5147673;5509893;5509888;5509867;5509895;6480464;6907045;7207059;5135529;7207469;7207060;7411621 15514408;15637145;16304060;16918397;18268361;19229505;20703892;20965243;21066892;21145390;21232674;22015551;22192592 10196135;10347142;10347182;10521508;10644702;10753943;10770944;10823817;10862778;10973280;11031247;11170396;11252894;11259507;11278883;11356842;11533043;11579203;11588219;11694590;11726668;11742073;11777907;11867621;12020767;12065593;12105416;12220636;12393857;12399592;12464600;12477932;12538596;12582207;14500724;14709160;14711824;15084596;15125834;15173580;15489220;15489334;15498833;15611106;15699339;15878855;16051150;16181421;16189514;16280323;16319069;16325578;16344560;16378096;16407241;16432186;16492667;16524428;16580177;16611986;16670094;16709866;16778767;17008309;17207965;17272726;17353931;17377064;17436063;17498700;17500066;17579607;17620599;17623778;17855543;17890288;17900862;17947233;18276584;18534983;18544533;18678875;18703513;18729826;18768750;18775329;18787115;18940181;19153083;19202075;19262695;19279230;19306926;19363159;19372219;19404096;19453261;19509284;19609003;19661922;19782076;19879840;20086095;20353754;20353998;20360068;20379614;20448034;20505072;20650893;20717968;20725137;20801186;20855896;20936779;20956518;21044950;21081496;21212384;21233215;21243522;21378163;21466165;21479985;21502318;21589858;2163110;21642958;21685944;21795688;21857681;21988832;22101011;22106258;22267743;22487268;22871966;22961449;23208497;23236378;23302795;23317236;23400010;23418490;23449980;23582260;23589893;23633677;23818521;23886940;24147004;24169548;24265322;24334028;24452472;24692549;24723693;24837709;24898255;24937675;7896272;8486659;8885248;8889548;9169477;9388255;9501202;9668034;9827808;9924018 408 B7Z1Q3;E9PM35;H0YD81;H0YDS1;H0YEQ2;H0YET9;P49407 ABBA01017469;ABBA01017470;ABBA01017471;AF084040;AF084940;AK074660;AK289718;AK293758;AL157484;AMYH02025112;AMYH02025113;AMYH02025114;AP000744;AP001972;BC003636;BM681392;BQ883950;BU594296;BX402200;CB853136;CD365891;CH471076;CR735690;DA358665;DQ314865;FJ348262;L04685;NG_028118;NM_004041;NM_020251;XM_005273997;XM_005273998;XM_006718552;XM_006718553;XM_006718554;XM_006718555 AAA35558;AAA35559;AAC33295;AAC34123;AAH03636;ABC40724;ACI96306;ADQ31775;BAF82407;BAH11589;EAW74960;EAW74961;EAW74962;NP_004032;NP_064647;P49407;XP_005274054;XP_005274055;XP_006718615;XP_006718616;XP_006718617;XP_006718618 Hs.503284;Hs.625320 1339457;1690183;1772014;1775578;1775657;1775808;1853052;2122714;2154160;2182745;5019659;5024413;5037552 A009B14;D11S1007;D11S4555;D17S1790;D8S2279;G31124;G32376;L17877;STS-M78804;WI-15243;WI-16137;WI-20596;WI-21016 ARB1;ARR1 OTTHUMP00000229765;OTTHUMP00000229766;OTTHUMP00000229801;arrestin 2;arrestin beta-1;beta-arrestin;beta-arrestin-1 APPROVED protein-coding ENSG00000137486 HGNC:711 00146 107940 REVIEWED 731570 ARRB2 arrestin, beta 2 Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] 17 17 17 p13 4629166 4639975 + 4613789 4624795 + 4710494 4721500 + 1580863;734975;4140419;5133417;5147673;5509867;5509890;5509895;6480464;6484113;6907045;5135529;7207059;7207469;7207060;7411621;8554872 12032308;15637145;16304060;16918397;18268361;19229505;20703892;20965243;21145390;21167192;22015551;22192592 10097102;10644702;10858453;11090355;11226259;11259507;11279203;11356842;11533043;11535606;11588219;11729201;11867621;11877451;12070169;12105416;12186555;12370187;12393857;12464600;12473660;12477932;12488444;12538596;12574160;12582207;12654503;12949261;12958364;12958365;14500724;14702039;14711824;14769794;15125834;1517224;15173580;15231748;15355986;15361545;15364949;15489220;15489334;15528268;15611106;15618519;15626751;15634674;15635042;15687500;15699045;15699339;15728711;15782195;15817468;1587386;15878855;15888437;16038799;16051150;16103897;16169070;16181421;16308565;16325578;16378096;16513835;16524428;16580177;16605244;16611986;16689683;16820410;16894395;16956790;16968782;17005854;17038311;17233643;17256744;17272726;17353931;17377064;17500066;17540773;17565992;17579607;17620599;17713785;17761157;17846866;17855543;17947233;17978999;17984062;18006496;18036556;18039931;18191226;18408005;18435604;18445652;18544533;18604210;18621717;18691971;18703513;18768750;18787115;18801735;18802075;18937294;18940181;19008961;19049562;19060904;19071087;19165858;19171933;19188335;19202075;19219857;19239323;19262695;19279230;19306926;19363159;19372219;19416857;19424180;19453261;19458261;19531493;19730683;19782076;19794961;19846537;19874574;20035620;20056609;20100572;20228252;20360068;20457218;20478633;20497256;20505072;20514076;20656684;20734064;20801186;20864483;20936779;21081496;21112970;21152433;21256133;21258807;21296876;21306178;21318602;21321125;21378163;21389118;21466165;21502318;21589858;21642958;21644508;21645452;21708946;21833475;21890473;21906983;21952200;21988832;22006018;22190034;22242112;22333895;22369787;22472784;22523395;22562249;22610101;22735336;22773819;22871966;23011268;23069267;23077507;23139825;23188799;23208550;23236378;23266473;23290307;23297229;23302795;23341447;23382074;23449980;23527545;23541635;23782696;23818521;23820308;23985900;24056371;24069330;24157794;24169548;24250222;24265322;24377933;24561123;24816145;24817116;24898255;7695743;8486659;9037196;9169477;9346876;9668034 409 I3L0V6;I3L1M6;I3L412;K7EL17;K7ENA6;P32121;Q59EM5;Q68DZ5 AB209786;ABBA01054772;AC091153;AF106941;AK097542;AK290951;AK297059;AK297181;AMYH02032832;BC007427;BC039066;BC067368;BC095450;BG723452;CH471108;CR450310;CR749218;DQ314866;DQ664180;EU883572;NM_001257328;NM_001257329;NM_001257330;NM_001257331;NM_004313;NM_199004;NR_047516;XM_006721520;XM_006721521;XR_429814;Z11501 AAC99468;AAH07427;AAH67368;ABC40725;ABG47460;ABM84152;ABM87555;ABW03579;ACG60646;BAC05094;BAD93023;BAF83640;BAG59581;BAG59672;CAA77577;CAG29306;CAH18075;EAW90419;EAW90420;EAW90421;EAW90422;NP_001244257;NP_001244258;NP_001244259;NP_001244260;NP_004304;NP_945355;P32121;XP_006721583;XP_006721584 Hs.435811 1733410;2107857;2175314;2181033 ARRB2_8210;D17S1272;RH18345;WI-11146 ARB2;ARR2;BARR2;DKFZp686L0365 OTTHUMP00000115951;arrestin 3;arrestin beta-2;beta-arrestin-2 APPROVED protein-coding ENSG00000141480 HGNC:712 00147 107941 REVIEWED 1320585 ARRDC1 arrestin domain containing 1 FOUND IN cytoplasmic vesicle; extracellular vesicular exosome; plasma membrane; INTERACTS WITH cobalt dichloride; lead(0); lead(2+) 9 9 9 q34.3 111023757 111033473 + 140500092 140509812 + 137605640 137615360 + 737633;6480464 12477932 14702039;15164053;15489334;19056867;21139048;21191027;21832049;22315426;23236378;23886940;24561123 92714 F2Z3I4;Q5T370;Q5T371;Q8N5I2 AA552336;AB209523;ABBA01022779;AJ420420;AK001822;AK308376;AL365502;AL542109;AMYH02021945;BC032346;CH471090;CR627251;NM_152285;XM_005266119;XM_005266121;XM_006717320;XM_006717321;XM_006717322 AAH32346;ADZ15345;BAD92760;EAW88403;EAW88404;EAW88405;NP_689498;Q8N5I2;XP_005266176;XP_005266178;XP_006717383;XP_006717384;XP_006717385 Hs.12999 1670730;1779167;2128682;5014051;5015619;5016478;5020946;5022200;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;GDB:434012;L17971;L18426;STS-H18962;STS-N91817;STS-R41874 MGC40555;RP11-48C7.5 OTTHUMP00000022707;OTTHUMP00000022709;alpha-arrestin 1;arrestin domain-containing protein 1 protein-coding ENSG00000197070 HGNC:28633 12491 VALIDATED 6768919 ARRDC3-AS1 ARRDC3 antisense RNA 1 5 5 5 q14.3 86578218 86618586 + 90676164 90716532 + 91380347 91420715 + 12477932 100129716 ABBA01062168;ABBA01062169;AC008799;AMYH02011786;BC043415;KF457942;NR_027435 Hs.116364 2122948 D21S1450 APPROVED ncrna HGNC:44145 VALIDATED 1323388 ARRDC4 arrestin domain containing 4 INVOLVED IN positive regulation of ubiquitin-protein transferase activity; FOUND IN endosome; plasma membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 15 15 15 q26.3 74920256 74933391 + 98503933 98517068 + 97960703 97973838 + 737633;6480464 12477932 14702039;15489334;16344560;16368877;18307387;18976975;19605364;20634892;21890473;21897333;23236378 91947 A8K2F6;Q8NCT1 AA872967;ABBA01032403;AC024651;AK026436;AK093364;AK290221;AK296448;AK316280;AMYH02031134;BC028704;BC038453;BC070100;BY797927;CH471101;DB089068;NM_183376 AAH28704;AAH70100;BAF82910;BAG52696;BAG59099;BAH14651;EAX02213;EAX02214;NP_899232;Q8NCT1 Hs.6093 1646033;2139047;2183806;5017491 A002R32;A008T31;ARRDC4;D15S1330 FLJ36045 OTTHUMP00000194782;arrestin domain-containing protein 4 protein-coding ENSG00000140450 HGNC:28087 10664 VALIDATED 1320117 ARRDC2 arrestin domain containing 2 INVOLVED IN signal transduction (inferred); FOUND IN cytoplasmic vesicle; plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 19 19 19 p13.11 18013652 18026620 + 18111944 18124911 + 18001132 18014102 + 6480464 12477932;14702039;15489334;15498874;21191027;8619474;9110174 27106 Q8TBH0;V9GYU7 ABBA01051243;ABBA01051244;AC020904;AF131826;AF193051;AI420040;AK000689;AK127940;AK128588;AK314657;AMYH02035719;BC022516;BG756314;BQ940909;CH471106;NM_001025604;NM_001286826;NM_015683 AAD20053;AAG22479;AAH22516;BAC87200;BAG37216;EAW84648;EAW84649;EAW84650;EAW84651;NP_001020775;NP_001273755;NP_056498;Q8TBH0 Hs.515249 1778714 RH78495 CLONE24945;PP2703 arrestin domain-containing protein 2 protein-coding ENSG00000105643 HGNC:25225 12492 VALIDATED 1348140 ARRDC3 arrestin domain containing 3 ENCODES a protein that exhibits beta-3 adrenergic receptor binding; INVOLVED IN positive regulation of ubiquitin-protein transferase activity; FOUND IN endosome; plasma membrane; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 5 5 5 q14.3 86566595 86581203 - 90664541 90679149 - 91368724 91383332 - 737633;6480464 12477932 10718198;15489334;16269462;16344560;17207965;19605364;20306291;20559325;20603614;21191027;21652578;21982743;22589738;23208550;23236378;23319801;24379409 57561 Q96B67 AB037797;ABBA01062168;ABBA01062169;AC008799;AK025028;AK026917;AK291753;AMYH02011786;BC015928;BC053619;CH471084;CS300561;DA110572;NM_020801 AAH15928;AAH53619;ADQ32737;BAA92614;BAF84442;CAK32225;EAW95997;NP_065852;Q96B67 Hs.24684 1735472;2165120;2170159 Bdy70c06;D5S1593E;STS-R33609 KIAA1376;TLIMP OTTHUMP00000222400;TBP-2-like inducible membrane protein;alpha-arrestin 3;arrestin domain-containing protein 3;thioredoxin-binding protein-2-like inducible membrane protein-coding ENSG00000113369 HGNC:29263 09810 612464 VALIDATED 1353583 ARRDC5 arrestin domain containing 5 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol (ortholog); potassium dichromate (ortholog) 19 19 19 p13.3 4827460 4839887 - 4890449 4902879 - 4890437 4902867 - 6480464;8554872 12886014 645432 A6NEK1 ABBA01056034;ABBA01056035;ABBA01056036;AC027319;AMYH02035307;AMYH02035308;AMYH02035309;NM_001080523;XM_005259616;XM_006722840 A6NEK1;NP_001073992;XP_005259673;XP_006722903 Hs.574574 arrestin domain-containing protein 5 protein-coding ENSG00000205784 HGNC:31407 PROVISIONAL 1350901 ARSC2 arylsulfatase C, isozyme F 1690506;6586638 413 HGNC:716 301780 737370 ARSB arylsulfatase B Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q14.1 73966272 74175272 - 78073032 78282357 - 78777209 78986534 - 1599228;1580863;6480464;7240710;8554872;8699517 1550123 10036316;10738004;11668612;11802522;12477932;1301949;1390929;14974081;16435196;1718978;17324393;17458871;17643332;18285341;18299243;18406185;18486607;19084217;1930244;19306108;19322201;19346317;19668339;1968043;19913121;20379614;20628086;21182205;21378286;21996138;22079206;22428001;22550062;22971959;23023219;2303452;23520469;23728934;23835622;23855929;24250222;24778176;4215420;6767391;7628016;7687847;8116615;8125475;8541342;8651289;8723688;8889548;9032078;9582121 411 A8K4A0;E5RHC4;P15848 ABBA01062000;ABBA01062001;ABBA01062002;AC020937;AC025755;AC099485;AC114963;AI244301;AI457798;AI821478;AK026942;AK290865;AK314903;AL135624;AMYH02011636;AMYH02011637;AMYH02011638;AMYH02011639;AW236748;BC029051;BC036609;BM664932;BQ216635;BQ775217;BX350102;BX364854;BX369127;CH471084;J05225;M32373;NG_007089;NM_000046;NM_198709;S57777;X72735;XM_005248506;XM_006714615 AAA51779;AAA51784;AAB19988;AAH29051;BAF83554;BAG37417;CAA51272;EAW95821;EAW95822;EAW95823;NP_000037;NP_942002;P15848;XP_005248563;XP_006714678 Hs.149103;Hs.604199 1646104;1647740;1659571;1729309;1741283;1749559;1753019;1761579;1777765;1847559;2128471;2219008;5020740;5024413 ARSB_4330;D5S1447;G64197;GDB:180337;L17809;L17877;RH16224;SHGC-111259;SHGC-12391;SHGC-145581;SHGC-34810;SHGC-36383;SHGC-77871;STS-M32373 ASB;G4S;MPS6 N-acetylgalactosamine-4-sulfatase;OTTHUMP00000135268;OTTHUMP00000222674 APPROVED protein-coding ENSG00000113273 HGNC:714 08358 253200;611542 REVIEWED 1321256 ARSA arylsulfatase A The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010] 22 22 22 q13.33 34939475 34942633 - 51061182 51066601 - 50622754 50628173 - 1358434;1599223;1358435;1580863;6480464;6907045;7240710;8554872;8699517 15026521;15375602;7901316 10220151;10359658;10493829;10591208;11061266;11124905;11333871;11456299;11777924;11857580;11941485;12081727;12459318;12473917;12477932;12788103;12888274;1352356;1352993;1353340;1357970;14571263;14702039;15146197;15188402;15342556;15461802;15489334;15710861;15772092;15962010;16110195;16140556;16311251;16341674;16344560;16678723;1670590;1673291;1674719;1676699;16782379;1678251;1684088;17329011;17560502;17660863;17845130;18029348;18248830;18624398;18693274;18768108;19021637;19054018;19224915;19262745;19606494;1975241;20301309;20301334;21167507;21265945;21454621;21648305;21695197;21966540;21988832;23192358;23209833;23247813;23689179;23969696;24001781;24501781;2562955;2574462;36611;7192199;7581401;7628016;7815433;7825603;7833949;7858169;7860068;7866401;7902317;7906588;7909527;7981715;8095918;8101038;8101083;8104633;8723680;8889548;9090526;9490297;9521684;9600244;9668161;9744473;9888390 410 B4DVI5;P15289;V9GYR0 AB448736;ABBA01042619;ABBA01042620;AK092752;AK098659;AK301098;AK315011;AMYH02038620;AY271820;BC014210;BI770997;BM818814;BP306351;BQ184813;BU632196;BX648618;CA423492;CH471138;CN409235;CR456383;DA844740;DB028013;NG_009260;NM_000487;NM_001085425;NM_001085426;NM_001085427;NM_001085428;U62317;X52150;X52151;XM_006724414 AAB03341;AAH14210;AAP03431;ABM83843;ABM87165;ACE87001;ACE87690;BAG37503;BAG62697;BAH11167;CAA36398;CAA36399;CAG30269;CAH56144;CAK54372;CAK54671;EAW73582;EAW73583;NP_000478;NP_001078894;NP_001078895;NP_001078896;NP_001078897;P15289;XP_006724477 Hs.731715;Hs.88251 1679105;1744247;1744541;1792992;5016596;5117899 GDB:438542;GDB:512802;GDB:631802;GDB:631842;PMC18051P1;RH27787 ASA;MLD OTTHUMP00000196544;OTTHUMP00000196545;OTTHUMP00000196546;OTTHUMP00000196547;OTTHUMP00000196548;cerebroside-sulfatase APPROVED protein-coding ENSG00000100299 HGNC:713 09617 250100;607574 REVIEWED 1353523 ARSD arylsulfatase D The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011] X X X p22.3 7102252 7127631 - 2822011 2847416 - 2903970 2929375 - 1580863;6480464;8554872 11027669;11177574;12477932;14699613;14702039;16344560;22820137;7720070;8845834;9192838;9246409 414 H0YMY1;H7C327;P51689 ABBA01012567;ABBA01038623;ABBA01038624;ABBA01038625;ABBA01038626;ABBA01038627;AC005295;AF160499;AI289224;AK021472;AK055239;AK314479;AMYH02038712;AMYH02038713;BC020229;BC080179;CH471074;DA869167;NG_012495;NM_001669;X83572;XM_005274514;XM_005274515;XM_005274516 AAF22253;CAA58555;EAW98713;EAW98714;EAW98715;EAW98716;NP_001660;P51689;XP_005274571;XP_005274572;XP_005274573 Hs.528631 1665570;1678571;1728899;2118395;2159978;5016781;5117672;5117897 G42687;GDB:595531;GDB:631813;RH1702;RH36003;RH38684;RH66803;SHGC-67307 ASD OTTHUMP00000022848;OTTHUMP00000022849 APPROVED protein-coding ENSG00000006756 HGNC:717 02048 300002 REVIEWED 1343522 ARSDP1 arylsulfatase D pseudogene 1 X Y Y q11.21 1451726 1485439 + 14474762 14499204 + 12354031 12387409 + 12815422;18021436;23810651;8845834 10034 ABBA01065658;ABBA01065659;ABBA01065660;ABBA01065661;AC002992;AC245171;AC253973;NG_000881 1678571;2188293;2188301;5017965;5022822;5095126;5095128;5095130;5095132;5095134;5117672 ARSDP-10;ARSDP-2;ARSDP-3;ARSDP-4;ARSDP-7;ARSDP-8;ARSDP-9;G66179;G66183;GDB:595531;RH38684 ARSDP;ARSDY1 APPROVED pseudo HGNC:718 INFERRED 5488918 ARSD-AS1 ARSD antisense RNA 1 X X 7103186 7104363 + 2822945 2824188 + 100506356 XR_110924;XR_113297 1665570;2159978 RH1702;RH36003 APPROVED ncrna HGNC:40085 1344739 ARSF arylsulfatase F This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011] X X X p22.3 7264010 7309722 + 2958275 3030770 + 3040234 3112729 + 1580863;6480464;8554872 12477932;15342556;15489334;16344560;18029348;19056867;21988832;7720070;9192838;9229115;9685421 416 P54793 ABBA01038644;ABBA01038645;ABBA01038646;ABBA01038647;ABBA01038648;ABBA01038649;ABBA01038650;ABBA01038651;ABBA01038652;ABBA01038653;ABBA01038654;ABBA01038655;AC112653;AMYH02038721;AMYH02038722;BC022389;BP274206;BP277542;BQ228278;BX107362;CH471074;DA156994;DA628671;NG_012822;NM_001201538;NM_001201539;NM_004042;X97868 AAH22389;CAA66462;EAW98722;NP_001188467;NP_001188468;NP_004033;P54793 Hs.101674 1743597;1779264;2153461 G30983;GDB:359851;SHGC-153192 ASF OTTHUMP00000022857;OTTHUMP00000022858 APPROVED protein-coding ENSG00000062096 HGNC:721 02049 300003 REVIEWED 1353090 ARSFP1 arylsulfatase F pseudogene 1 X Y Y q11.21 1344930 1350665 - 14373004 14378739 - 12252300 12258035 - 12815422 23757 ABBA01065675;ABBA01065676;ABBA01065677;AC004772;AC245171;NG_002804 1341229;1711432 DXS1233;G42673 ARSFP APPROVED pseudo HGNC:722 INFERRED 1312633 ARSE arylsulfatase E (chondrodysplasia punctata 1) Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013] X X X p22.3 7132912 7162720 - 2852673 2886345 - 2934632 2968310 - 1580863;1599238;6480464;7240710;8554872;8699517 9409863 11177574;11260213;12477932;12567415;15146197;15342556;16169070;16344560;16470742;18348268;19056867;19839041;20301713;21998595;22021425;23462608;23470839;7720070;8125298;8845834;9192838;9497243 415 A1L484;B7Z1M0;B7Z6V4;C9J5G7;F5GYY5;F5H324;P51690 ABBA01038628;ABBA01038629;ABBA01038630;ABBA01038631;AC005295;AK223183;AK223199;AK293648;AK301004;AK313093;AMYH02038713;AMYH02038714;AMYH02038715;AW779826;BC130438;BP272004;BP272164;CH471074;CN270432;DA915010;DB073314;HX786884;NG_007091;NM_000047;NM_001282628;NM_001282631;X83573;XM_005274518;XM_005274519;XM_005274521 AAI30439;ADR83078;BAD96903;BAD96919;BAG35917;BAH11556;BAH13390;CAA58556;EAW98717;EAW98718;EAW98719;EAW98720;NP_000038;NP_001269557;NP_001269560;P51690;XP_005274575;XP_005274576;XP_005274578 Hs.386975 1680248;1682069;1728901;2106953;5016532 ARSE_7749;G42688;GDB:595763;RH66804;RH75499 ASE;CDPX;CDPX1;CDPXR;MGC163310 OTTHUMP00000022851;arylsulfatase E;chondrodysplasia punctata 1 APPROVED protein-coding ENSG00000157399 HGNC:719 02171 300180;302950 REVIEWED 1344063 ARSEP1 arylsulfatase E pseudogene 1 X Y Y q11.21 1429956 1445213 + 14452985 14468246 + 12332258 12347515 + 12815422;8845834 10033 ABBA01065662;ABBA01065663;ABBA01065664;ABBA01065665;AC002992;AC245171;NG_000880 1680248;1682069;2106953 ARSE_7749;RH66804;RH75499 ARSEP APPROVED pseudo HGNC:720 INFERRED 1605805 ARSH arylsulfatase family, member H Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] X X X p22.33 7204898 7231677 + 2924654 2951426 + 3006613 3033385 + 6480464 16174644 347527 Q5FYA8 ABBA01038637;ABBA01038638;ABBA01038639;ABBA01038640;ABBA01038641;ABBA01038642;AC112653;AMYH02038717;AMYH02038718;AMYH02038719;AMYH02038720;AY875940;CH471074;NM_001011719 AAI48493;AAI53086;AAW66668;EAW98721;NP_001011719;Q5FYA8 Hs.351533 1768888 DXS2503 ASH OTTHUMP00000215984;arylsulfatase H;sulfatase APPROVED protein-coding ENSG00000205667 HGNC:32488 16509 300586 VALIDATED 1606235 ARSJ arylsulfatase family, member J Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] 4 4 4 q26 112113187 112192557 - 114821432 114901281 - 113900284 113980125 - 6480464;8554872 12477932;12975309;15489334;16174644;16344560;16500042;20332099;24165912 79642 D6RGC1;Q5FYB0 ABBA01063835;AC104779;AI087279;AK027201;AK307532;AM049401;AMYH02009951;AX206967;AY358647;AY875938;BC032010;BC033156;BC089445;BC132879;BC132881;BC142701;BC144265;BC151213;BG661302;CH471057;DA031262;DA884606;NM_024590;XM_005263211;XM_005263212;XM_005263213 AAH32010;AAH89445;AAI32880;AAI32882;AAI44266;AAQ89010;AAW66666;BAB15689;CAC60191;CAJ18095;EAX06303;NP_078866;Q5FYB0;XP_005263268;XP_005263269;XP_005263270 Hs.22895;Hs.700496;Hs.712042 1701622;1771442;1858022;2145762;2146865;2153241 D4S1343;RH104453;SHGC-51089;STS-W81455;WI-11180;WI-21570 ASJ;FLJ23548 OTTHUMP00000219665;arylsulfatase J APPROVED protein-coding ENSG00000180801 HGNC:26286 08034 610010 VALIDATED 1606445 ARSK arylsulfatase family, member K Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] 5 5 5 q15 90769262 90819241 + 94890825 94940806 + 95555121 95605102 + 6480464 12477932;12975309;15489334;16174644;16500042;23986440;24250222 153642 D6R9F9;D6RBR4;E9PGI0;H0Y9F6;Q6UWY0 ABBA01069250;ABBA01069251;AC008547;AC090071;AK303855;AK316253;AL832711;AMYH02011822;AY358596;AY875939;BC036047;BC050392;BC130329;BC144160;BC144161;CH471084;CQ866752;NM_198150;XM_005271904 AAH36047;AAH50392;AAI30330;AAQ88959;AAW66667;ADR83046;BAG64796;BAH14624;CAD38634;CAH25966;EAW96039;EAW96040;NP_937793;Q6UWY0;XP_005271961 Hs.585051 5037552 D8S2279 ASK;DKFZp313G1735;TSULF OTTHUMP00000149978;OTTHUMP00000222479;arylsulfatase K;telethon sulfatase APPROVED protein-coding ENSG00000164291 HGNC:25239 13183 610011 VALIDATED 1602225 ARSG arylsulfatase G The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] 17 17 17 q24.2 62826927 62988567 + 66255323 66425516 + 68259182 68440769 + 6480464 10231032;12461688;12477932;12975309;15489334;16174644;18283100;19960030;20379614;24375517 22901 B4DQ74;J3KS49;J9JIG6;Q96EG1 AB023218;ABBA01028960;ABBA01028961;ABBA01028962;ABBA01028963;ABBA01028964;AC005332;AC007780;AK311327;AMYH02033870;AMYH02033871;AX206961;AY358380;BC012375;BG700864;CH471099;NG_032814;NM_001267727;NM_014960;XM_005257170;XM_005257172;XM_006721776;XM_006721777;XM_006721778;XM_006721779;XM_006721780 AAH12375;AAQ88746;BAA76845;CAC60188;EAW89055;EAW89056;NP_001254656;NP_055775;Q96EG1;XP_005257227;XP_005257229;XP_006721839;XP_006721840;XP_006721841;XP_006721842;XP_006721843 Hs.437249 1669646;1675738;1697228;1729853;1796786;1847881;2173350 D17S694;G19285;RH102108;RH80612;SLC16A6_835;STS-N33189;STS-N51941 ASG;KIAA1001 APPROVED protein-coding ENSG00000141337 HGNC:24102 13826 610008 REVIEWED 1604953 ARSI arylsulfatase family, member I Sulfatases (EC 3.1.5.6), such as ARSI, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] 5 5 5 q32 145757304 145763920 - 149675909 149682525 - 150296346 150302962 - 6480464 12477932;14702039;15146197;16174644;16344560;16500042;19262745;24482476 340075 D6RDH0;Q5FYB1 AB448735;ABBA01026281;ABBA01026282;AC011372;AK122641;AMYH02012455;AY875937;BC111002;BC129995;BC129996;CH471062;CN369733;CQ866756;DA264664;DA759270;NM_001012301 AAI29996;AAI29997;AAW66665;BAG53634;BAH11166;CAH25968;EAW61740;NP_001012301;Q5FYB1 Hs.591252 1652046 RH45058 ASI;FLJ16069;SPG66 OTTHUMP00000224046;arylsulfatase I APPROVED protein-coding ENSG00000183876 HGNC:32521 16510 610009 VALIDATED 1312119 ART1 ADP-ribosyltransferase 1 ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq, Jul 2008] 11 11 11 p15 3670682 3690726 + 3663487 3685844 + 3645131 3684772 + 1580863;6480464;8554872 10092875;11498506;12477932;16627471;17614107;7947688;8812442;9119374 417 P52961 ABBA01032051;ABBA01032052;ABBA01032053;AC060812;AJ291430;AMYH02024226;BC017828;BC069102;BC069828;BC111729;CH471158;KF455314;NM_004314;S74683;XM_005252933;XM_006718236;XM_006718237 AAB32387;AAH69102;AAI11730;CAC69964;EAX02558;EAX02559;NP_004305;P52961;XP_005252990;XP_006718299;XP_006718300 Hs.382188 5021872;5037552 D8S2279;sY3084 ART2;ARTC1;CD296;MGC133217;RT6 ADP-ribosyltransferase 2;ADP-ribosyltransferase C2 and C3 toxin-like 1;GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1;OTTHUMP00000013621;mono(ADP-ribosyl)transferase 1 APPROVED protein-coding ENSG00000129744 HGNC:723 03377 601625 REVIEWED 1320437 ART3 ADP-ribosyltransferase 3 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 4 4 4 q21.1 74232860 74334155 + 76932333 77033955 + 76011180 76112802 + 1580863;6480464;8554872 10460751;11879200;12070318;12477932;15489334;16040347;16625277;16934346;18029348;18266473;19913121;20237496;20379614;20395553;20628086;21988832;8125298;8605984;9119374 419 E7ER42;E7ESB3;E7EX61;E9PGR5;Q13508;Q5J1K9 ABBA01063355;AC112719;AK129914;AK225860;AK295305;AK308810;AMYH02009503;AMYH02009504;AMYH02009505;AMYH02009506;AMYH02009507;AY543655;AY543656;AY543657;AY543658;AY543659;AY543660;AY550336;AY550337;AY550338;AY550339;AY550340;AY550341;AY550342;AY550343;AY550344;AY550345;AY550346;BC008397;BC017913;BT007249;CH471057;CR541664;DB451386;NM_001130016;NM_001130017;NM_001179;U47054;X95827;XM_005262997;XM_005262999;XM_005263002;XM_005263003;XM_005263004;XM_005263005;XM_006714218;XM_006714219;XM_006714220 AAB01894;AAH08397;AAH17913;AAP35913;AAT10277;AAT10278;AAT10279;AAT10280;AAT10281;AAT10282;AAT45030;AAT45031;AAT45032;AAT45033;AAT45034;AAT45035;AAT45036;AAT45037;AAT45038;AAT45039;AAT45040;ABM84209;ABM87613;BAG58285;CAA65096;CAG46465;EAX05765;EAX05766;EAX05768;EAX05769;EAX05770;EAX05771;NP_001123488;NP_001123489;NP_001170;Q13508;XP_005263054;XP_005263056;XP_005263059;XP_005263060;XP_005263061;XP_005263062;XP_006714281;XP_006714282;XP_006714283 Hs.24976;Hs.731997 1645663;1645677;1650993;1656469;1763603;1772226;1797452;2108699;2137415;2155208;2163758;2164120;2166361;2174400;5022578 ART3_8212;CXCL10__1179;D1S1423;D4S2674;D4S3268;D4S478;G33388;G33799;G34355;SHGC-147296;SHGC-50663;SHGC-59623;SHGC4-1008;SHGC4-1683;STS-X02530 ARTC3;FLJ26404 ADP-ribosyltransferase C2 and C3 toxin-like 3;NAD(P)(+)--arginine ADP-ribosyltransferase 3;OTTHUMP00000160603;OTTHUMP00000160604;OTTHUMP00000219067;OTTHUMP00000219069;OTTHUMP00000219070;OTTHUMP00000222097;ecto-ADP-ribosyltransferase 3;mono(ADP-ribosyl)transferase 3;mono-ADP-ribosyltransferase APPROVED protein-coding ENSG00000156219 HGNC:725 04363 603086 VALIDATED 1315084 ART4 ADP-ribosyltransferase 4 (Dombrock blood group) This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008] 12 12 12 p13-p12 20127234 20141401 - 14982245 14996413 - 14829311 14843479 - 1580863;6480464;8554872 10971215;11001920;11520417;11896313;12028057;12070318;12477932;12519438;15231747;15489334;15847654;16040347;16140404;18510579;19413734;20431033;20932078;21832049;23421541;6034522;8882867;9119374 420 H7C2G2;Q3KZ29;Q3KZ30;Q93070 ABBA01067886;AC007655;AF290204;AF340233;AF340234;AF382212;AF382213;AF382215;AF382216;AF382218;AF382219;AF382222;AF382225;AK291662;AMYH02026095;AMYH02026096;AY690666;AY829431;AY829432;AY829433;AY829434;AY829435;AY829436;AY829437;AY899803;BC074727;BX096478;CH471094;CR746266;DQ072851;NG_007477;NM_021071;X95826 AAG17845;AAH74727;AAK11274;AAK11275;AAM21462;AAM21464;AAM21465;AAM21466;AAM21467;AAW02794;AAW65375;AAX39378;AAX39379;AAX39380;AAX39381;AAX39382;AAX39383;AAX39384;BAF84351;CAA65095;EAW96332;NP_066549;Q93070 Hs.591158;Hs.655792;Hs.668803 1853112;1854419;5094026 A010B03;G33063;G41311 ARTC4;CD297;DO;DOK1 ADP-ribosyltransferase 4 (DO blood group);ADP-ribosyltransferase C2 and C3 toxin-like 4;Dombrock blood group carrier molecule;NAD(P)(+)--arginine ADP-ribosyltransferase 4;OTTHUMP00000239331;OTTHUMP00000239332;dombrock blood group;ecto-ADP-ribosyltransferase 4;mono(ADP-ribosyl)transferase 4;mono-ADP-ribosyltransferase 4 APPROVED protein-coding HGNC:726 04364 110600 REVIEWED 1350034 ART2P ADP-ribosyltransferase 2, pseudogene 11 11 11 q13 69533947 69534636 + 72231995 72232684 + 72520951 72521640 + 6480464 20210993;7966280;8005606;8812442 418 ABBA01017537;AMYH02025077;AP003785;AP005019;NG_001076;X65050 ART1P;RT6 APPROVED pseudo HGNC:724 INFERRED 1347628 ART5 ADP-ribosyltransferase 5 The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 p15.4 3664036 3667844 - 3659733 3663546 - 3638503 3642316 - 634606;1580863;6480464 11587854 10448534;12070318;12477932;12975309;15489334;17207965 116969 H7C1W0;H7C3U2;Q96L15 ABBA01032053;AC060812;AK313531;AMYH02024226;AW241897;AY358466;BC014577;BI825352;CD557970;CH471158;HY018364;NM_001079536;NM_001297668;NM_053017;NR_123732;XM_005252779;XM_005252780;XM_005252781;XM_006718136;XM_006718137;Y16835 AAH14577;AAQ88831;ADQ31665;CAC79987;EAX02555;EAX02556;EAX02557;NP_001073004;NP_001284597;NP_443750;Q96L15;XP_005252836;XP_005252837;XP_005252838;XP_006718199;XP_006718200 Hs.125680 ARTC5;MGC22848 ADP-ribosyltransferase C2 and C3 toxin-like 5;NAD(P)(+)--arginine ADP-ribosyltransferase 5;OTTHUMP00000013618;OTTHUMP00000013619;ecto-ADP-ribosyltransferase 5;mono(ADP-ribosyl)transferase 5 APPROVED protein-coding ENSG00000167311 HGNC:24049 12493 610625 REVIEWED 1353866 ARVD1 arrhythmogenic right ventricular dysplasia 1 ASSOCIATED WITH Arrhythmogenic Right Ventricular Dysplasia 1578811;7240710 7951245 422 HGNC:729 107970;615582 1347630 ARTN artemin The protein encoded by this gene is a member of the glial cell line-derived neurotophic factor (GDNF) family of ligands which are a group of ligands within the TGF-beta superfamily of signaling molecules. GDNFs are unique in having neurotrophic properties and have potential use for gene therapy in neurodegenerative disease. Artemin has been shown in culture to support the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. Its role in the PNS and CNS is further substantiated by its expression pattern in the proximity of these neurons. This protein is a ligand for the RET receptor and uses GFR-alpha 3 as a coreceptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 1 1 1 p33-p32 42682525 42686445 + 44398992 44402912 + 43933320 43937241 + 2325817;2325819;2325821;2325815;6480464;8655552 18344995;19304517;19937367;20302919;20395845 10583383;10673327;12477932;15489334;15829225;16710414;16734417;16765900;18313696;18970938;19363524;20118197;20305694;20530713;21453483;21907286;22008109;22060274;22770266;22901124;23095743;23185544;23351331;24737320;9448325;9883723 9048 E9PIK2;E9PLG3;E9PN22;Q5T4W7 ABBA01050938;AF109401;AF115765;AF120274;AJ245628;AL357079;AMYH02000908;BC062375;CH471059;NM_001136215;NM_057090;NM_057091;XM_006711023;XM_006711024 AAC98690;AAD13109;AAD13110;AAD21075;AAH62375;CAB52396;EAX07074;EAX07075;EAX07076;EAX07077;EAX07078;EAX07079;EAX07080;EAX07081;NP_001129687;NP_476431;NP_476432;Q5T4W7;XP_006711086;XP_006711087 Hs.632404 EVN;NBN ENOVIN;OTTHUMP00000009173;OTTHUMP00000231148;OTTHUMP00000231149;OTTHUMP00000231150;OTTHUMP00000231151;OTTHUMP00000231154;neublastin;neurotrophic factor APPROVED protein-coding ENSG00000117407 HGNC:727 04863 603886 REVIEWED 1349140 ARVD3 arrhythmogenic right ventricular dysplasia 3 ASSOCIATED WITH Arrhythmogenic Right Ventricular Dysplasia (inferred); Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 (inferred); Death, Sudden (inferred) 1578812;7240710 9344647 8824801 424 1337405 D14S252 HGNC:731 602086 1349198 ARV1 ARV1 homolog (S. cerevisiae) INVOLVED IN bile acid metabolic process (inferred); cholesterol transport (inferred); regulation of cholesterol metabolic process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; formaldehyde 1 1 1 q42.2 204380771 204402432 + 231114823 231136479 + 230979077 231000733 + 1580863;6480464 11063737;12145310;12477932;14702039;15489334;16196087;16710414;17207965;20663892;21890473;21963094;24250222;24273168 64801 F6QB42;H0YEB4;H7C0E7;H7C484;Q9H2C2 ABBA01033032;AF271780;AF290878;AF321442;AK026629;AK293049;AL122047;AL732414;AL844165;AMYH02002885;BC016309;CH471098;NM_022786 AAG44791;AAG47671;AAH16309;AAK11180;ADQ31700;BAB15513;BAF85738;CAB59183;EAW69934;EAW69935;EAW69936;EAW69937;EAW69938;EAW69939;EAW69940;EAW69941;NP_073623;Q9H2C2 Hs.275736 1670917 A007E06 hARV1 OTTHUMP00000035970;OTTHUMP00000036063;OTTHUMP00000036064;OTTHUMP00000036065;OTTHUMP00000036067 protein-coding ENSG00000173409 HGNC:29561 12494 611647 VALIDATED 1353946 ARVD2 arrhythmogenic right ventricular dysplasia 2 ASSOCIATED WITH Arrhythmogenic Right Ventricular Dysplasia; Tachycardia 1578810;7240710 8589694 423 HGNC:730 600996;604772 1345748 ARVD4 arrhythmogenic right ventricular dysplasia 4 ASSOCIATED WITH Arrhythmogenic Right Ventricular Dysplasia 1578812;7240710 9344647 425 1298284;1338915;1341679;7187779 D2S103;D2S151;D2S389 HGNC:732 602087 1342748 AS ankylosing spondylitis 426 HGNC:734 1344380 ARX aristaless related homeobox This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq, Jul 2008] X X X p21.3 29145744 29157998 - 25021811 25034065 - 25003694 25015948 - 1599257;1599258;1598407;1580863;6480464;7240710;8554872;8699517 11971879;16772326 10398243;10398246;10920247;11889467;12142061;12177367;12359145;12376946;12376949;12379852;12736870;12874405;12874418;14722918;15199382;15533998;15707237;15726411;15850492;1605216;16523516;16845484;16988001;17044103;17082467;17480217;17490853;17613295;17641262;17664401;17668384;18468866;18923043;18975239;19085879;19587282;19605412;19734009;19738637;20384723;20506206;20538404;21108397;21204215;21204226;21426321;21482751;21496008;22194193;22252899;22387004;22490986;22565167;22628459;22642246;22922607;23072184;23583054;23657928;24727054;3177452;8826457;8826462;8826464;9001795 170302 Q96QS3 AA484051;ABBA01016868;ABBA01072376;ABBA01072377;ABBA01072378;ABBA01072379;AC002504;AMYH02039055;AY038071;BF196892;BQ100952;BQ269551;CA775911;CH471074;NG_008281;NM_139058 AAK93901;EAW99031;EAW99032;NP_620689;Q96QS3 Hs.300304 1338887;1339686;1701896;1788750;1850033;5491890;7185693 Arx;DXS1202;DXS1218;DXS1432;DXS989;RH128932;RH18271 CT121;EIEE1;ISSX;MRX29;MRX32;MRX33;MRX36;MRX38;MRX43;MRX54;MRX76;MRX87;MRXS1;PRTS OTTHUMP00000023088;aristaless-related homeobox, X-linked;cancer/testis antigen 121;homeobox protein ARX APPROVED protein-coding ENSG00000004848 HGNC:18060 02307 300004;300215;300382;300419;308350;309510 REVIEWED 1315392 ARVCF armadillo repeat gene deleted in velocardiofacial syndrome Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010] 22 22 22 q11.21 3808603 3855512 - 19954126 20004325 - 19966603 20016802 - 1578806;1580863;6480464 9126485 10725230;11058098;11821434;12477932;14702039;15123239;15340358;15345747;15456900;15509897;16118784;18198266;18600340;19508883;19617637;19692168;19706687;19724895;19851296;20198315;20333729;20379614;20634891;21139048;21846818;21906983;22053977;22087225;22139419;22889411;23000965;24644279;24819575;7677167;8889548;9192844;9721216 421 C9JJX6;E9PDC3;O00192 ABBA01005398;ABBA01005399;ABBA01005400;AC005663;AK092664;AMYH02038055;BC036893;BC137436;BM716184;CH471176;NG_023326;NM_001670;U51269;XM_005261242;XM_005261243;XM_005261244;XM_006724243;XM_006724244;XM_006724245;XM_006724246;XM_006724247;XM_006724248;XM_006724249;XM_006724250;XM_006724251 AAC51202;AAH36893;AAI37437;BAC03941;EAX03007;EAX03008;EAX03009;NP_001661;O00192;XP_005261299;XP_005261300;XP_005261301;XP_006724306;XP_006724307;XP_006724308;XP_006724309;XP_006724310;XP_006724311;XP_006724312;XP_006724313;XP_006724314 Hs.713616 1645894;1734280;1857183;2112420;2112426;2112432 D22S1603;D22S1605;D22S1607;D22S931;G18186;WI-22519 FLJ35345 OTTHUMP00000028704;OTTHUMP00000198346;OTTHUMP00000198347;OTTHUMP00000198348;armadillo repeat protein deleted in velo-cardio-facial syndrome APPROVED protein-coding ENSG00000099889 HGNC:728 03778 602269 REVIEWED 734135 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 8 8 8 p22 16879836 16908397 - 17913925 17942507 - 18056416 18084998 - 734977;1580863;6480464;6484113;6907045;7240710;8554872;8699517 11241842 10610716;10959093;10974027;11451951;12477932;12638942;12754519;12764132;12815059;14702039;15088070;15210766;15489334;16169070;16263699;16335952;16344560;16500425;16806233;17713573;17881906;18245333;18477771;19056867;19298866;19905902;19913121;20360068;20379614;20520628;20628086;20871013;21139048;21335555;21375364;21493710;21504271;21552555;21700700;21846728;21890473;21893389;21988832;22079093;22261821;22268729;22322590;22515519;22703880;22927646;23423838;23518908;23602568;23707712;23777806;23874603;24091326;24098536;7744740;8125298;8889549;8955159;9838138 427 A8K0B6;E7EMM4;Q13510;Q53H01 ABBA01021575;AC124242;AF220175;AK025211;AK025732;AK098299;AK222780;AK289481;AMYH02017544;AMYH02017545;AY305384;BC016481;BC016828;BC035453;BG714023;BU633536;CB216602;CH471080;DA260852;DA306573;DB561177;H78830;KC877215;NG_008985;NM_001127505;NM_004315;NM_177924;U47674;U70063;XM_005273504 AAC50907;AAC73009;AAF91230;AAH16481;AAH16828;AAQ75550;ABM81997;ABM85180;BAB15085;BAD96500;BAF82170;BAG53608;EAW63791;EAW63792;EAW63793;EAW63794;EAW63795;NP_001120977;NP_004306;NP_808592;Q13510;XP_005273561 Hs.527412;Hs.633993 1682043;1735724;1786810;1850492;2120177;2136031;2145172 D8S1341E;D8S1586;D8S2080;D8S2114;RH11700;RH94375;SHGC-170029 AC;ASAH;FLJ21558;FLJ22079;PHP;PHP32 ACDase;OTTHUMP00000122481;OTTHUMP00000122482;OTTHUMP00000224670;OTTHUMP00000224838;SMAPME;acid CDase;acid ceramidase;acylsphingosine deacylase;n-acylsphingosine amidohydrolase (acid ceramidase);putative 32 kDa heart protein APPROVED protein-coding ENSG00000104763 HGNC:735 01969 159950;228000;613468 REVIEWED 1350697 AS3MT arsenite methyltransferase AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008] 10 10 10 q24.32 98369790 98401891 + 104629183 104661656 + 102869453 102901899 + 625365;1580863;6480464 11790780 12477932;15808521;15929903;16344560;16385451;16407288;17306849;17450230;17637926;17850829;17889916;18334919;18414634;18588996;18682255;18976679;19152805;19159958;19167370;19371612;19411561;19430483;19538983;19896490;19932709;20014157;20129672;20532380;20547570;20571777;20621156;20877624;20971157;21139048;21247820;21537954;21963094;22005461;22339537;22341486;22547080;22712827;22747749;22955273;23070617;23093101;23341986;23453885;23535732;23665909;23742935;23894747;23974872;24154821;24239724;24361376;24621105;24792412;8125298 57412 Q9HBK9 ABBA01063131;ABBA01063132;AF226730;AK057833;AK225972;AK309737;AL358790;AMYH02023712;AMYH02023713;AW139845;AY817668;BC119637;BC119638;CH471066;DA368970;NM_020682 AAG09731;AAI19638;AAI19639;AAI60057;AAV68045;EAW49668;EAW49669;NP_065733;Q9HBK9 Hs.720370 1670076;1774675;2179270;2191087;5014051;5015619;5016596;5024761;5037552;5491553 D11S3114;D16S779;D8S2278;D8S2279;GDB:631802;MARC_14453-14454:1010434240:1;MARC_17614-17615:1019141787:1;RH36905;RH44877;STS-N70305 2310045H08Rik;CYT19;RP11-753C18.6 OTTHUMP00000020384;S-adenosyl-L-methionine:arsenic(III) methyltransferase;S-adenosylmethionine:arsenic (III) methyltransferase;arsenic (+3 oxidation state) methyltransferase;methylarsonite methyltransferase;methyltransferase cyt19 APPROVED protein-coding ENSG00000214435 HGNC:17452 16511 611806 VALIDATED 1344716 ASAH2C N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C ENCODES a protein that exhibits ceramidase activity (inferred); INVOLVED IN sphingolipid metabolic process (inferred) 10 10 10 q11.22 75110241 75151685 - 48001709 48050538 - 50187240 50236069 - 6480464 10781606;14557071;15164054;15489334;15845354;15946935;16061940;16229686;21906983 653365 P0C7U2 ABBA01052476;ABBA01052477;AC254108;AL450382;AL954360;NG_012763 CAI17190;P0C7U2 1335475;1721105;2161972;7185095 D10S1447;D10S225;G59537 bA98I6.3 pseudo HGNC:23457 INFERRED 1605058 ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008] 10 10 10 q11.21 75112386 75164225 - 51947000 52008370 - 50187240 50248610 - 6480464;6907045 10753931;10781606;11328816;12477932;14557071;15164054;15210766;15489334;15845354;15946935;16061940;16229686;16385451;16940153;17334805;17475390;17982236;20520628;20877624;21530485;21531200;21906983;23263486;23400010;24397980;8076819 56624 E9PBM9;Q9NR71;V9GY52;V9GYJ5 ABBA01052476;ABBA01052477;AC254108;AF250847;AF449759;AL450382;AY049008;BC107105;BG289059;CH471142;NM_001143974;NM_019893 AAF86240;AAI07106;AAL06061;AAQ04667;EAW80435;EAW80436;NP_001137446;NP_063946;Q9NR71 Hs.512645 1335475;1721105;2161972;7185095 D10S1447;D10S225;G59537 HNAC1;MGC129777;hCD BCDase;LCDase;N-CDase;N-acylsphingosine amidohydrolase 2;NCDase;OTTHUMP00000019606;OTTHUMP00000211204;acylsphingosine deacylase 2;mitochondrial ceramidase;neutral ceramidase;neutral/alkaline ceramidase;non-lysosomal ceramidase APPROVED protein-coding ENSG00000188611 HGNC:18860 611202 VALIDATED 1347222 ASAH2B N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B INTERACTS WITH dimethyl sulfoxide; torcetrapib; valproic acid 10 10 10 q11.23 75112386 75114759 - 52499688 52516948 + 50739885 50757188 + 6480464 15146197;17334805;21906983 653308 B7Z261;P0C7U1 ABBA01052484;ABBA01052485;ABBA01052486;ABBA01052487;ABBA01052488;ABBA01052489;AK294369;AL589794;AMYH02023055;AMYH02023056;BG773189;DC329838;NM_001079516;XM_005270059;XM_005270060;XM_006717952 BAH11747;NP_001072984;P0C7U1;XP_005270116;XP_005270117;XP_006718015 Hs.710005 1340515;1689376 D5S2115;RH80093 ASAH2C;ASAH2L;bA449O16.3 ASAH2-like protein;OTTHUMP00000019609;OTTHUMP00000019610;putative inactive N-acylsphingosine amidohydrolase 2B;putative inactive neutral ceramidase B;putative inactive non-lysosomal ceramidase B protein-coding ENSG00000204147 HGNC:23456 610987 PROVISIONAL 1354069 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 8 8 8 q24.1-q24.2 127244326 127594327 - 131064350 131455906 - 130052104 130443660 - 1580863;6480464;6484113;6907045 10574462;11773070;12029088;12058076;12149250;12477932;12522101;12672817;12771146;14702039;15090612;15719014;15897555;16038802;16223492;16344560;16421571;16636290;17255943;17474147;17893324;18094045;18400762;18519696;18685082;19017632;19041431;19322201;19380743;19525955;19531213;20154719;20467438;20697350;20936779;21139048;21352810;21706016;21858086;21988832;22734003;24116160;24167568;24427349;9819391 50807 E5RFD9;E5RHA9;E5RHD7;H0YBF7;H0YBM4;H0YBY9;Q9ULH1 AB033075;ABBA01037977;ABBA01037978;ABBA01037979;ABBA01037980;ABBA01037981;ABBA01037982;AC009682;AC103725;AC131568;AC139019;AF222859;AI494058;AI656533;AK056811;AK314695;AMYH02018783;AMYH02018784;AMYH02018785;AMYH02018786;AMYH02018787;AMYH02018788;AP005856;AP006178;AP006181;AW236866;AW236958;BC020631;BC070268;BC105978;BC137135;BC144493;BX537768;CH471060;DA319233;HI574070;NG_030354;NM_001247996;NM_018482;XM_005250925;XM_006716563;XM_006716564;XM_006716565;XM_006716566;XM_006716567 AAF67666;AAH20631;AAI37136;BAA86563;CAD97831;CBX47524;EAW92130;EAW92131;NP_001234925;NP_060952;Q9ULH1;XP_005250982;XP_006716626;XP_006716627;XP_006716628;XP_006716629;XP_006716630 Hs.655552 1662904;1698994;1713855;1735838;1749823;1757151;1757563;1856191;2117668;2124278;2131167;2136015;2137065;2144413;2150744;2163256;2186333;2218464 D8S1435E;D8S1921;D8S1945;D8S344;DDEF1_4682;G17258;RH103067;RH119359;RH16451;RH69822;SGC38391;SHGC-111562;SHGC-144582;SHGC-145025;SHGC-34037;SHGC-58182;STS-N34678;WI-3886 AMAP1;CENTB4;DDEF1;DEF-1;KIAA1249;PAG2;PAP;ZG14P 130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein;130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein;ADP-ribosylation factor-directed GTPase-activating protein 1;ARF GTPase-activating protein 1;OTTHUMP00000227438;OTTHUMP00000227440;PIP2-dependent ARF1 GAP;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1;centaurin, beta 4;development and differentiation enhancing factor 1;development and differentiation-enhancing factor 1;differentiation-enhancing factor 1 APPROVED protein-coding ENSG00000153317 HGNC:2720 05809 605953 REVIEWED 7252018 ASAP1-IT2 ASAP1 intronic transcript 2 (non-protein coding) 8 8 8 127276158 127277157 - 131094984 131097014 - 130082738 130084768 - 14702039 100507117 ABBA01037978;AC131568;AK054840;AMYH02018783;NG_030354;NR_045385 BAB70813 Hs.106015;Hs.741322 ncrna HGNC:48917 VALIDATED 1346642 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 1 1 1 p36.12 22084761 22140449 - 23755056 23810750 - 23428563 23484257 - 1580863;6480464;6907045;8554872 12477932;14654939;14702039;15489334;16710414;16737952;18400762;18685082;19380743;20510928;22027826;23776207;24078447;24097068;24284654 55616 B4DRP2;E9PS98;H0YE36;H0YEB0;H0YER8;Q8TDY4;V9GY49 AB056749;ABBA01059872;ABBA01059873;ABBA01059874;AK000206;AK000253;AK074319;AK092291;AK295100;AK299359;AL021154;AL357134;AMYH02000491;AMYH02000492;AMYH02000493;AMYH02000494;BC023519;BC052305;BC060786;CH471134;NM_001143778;NM_017707;XM_005245934 AAH23519;AAH52305;AAH60786;BAA91008;BAA91033;BAB85677;BAG52522;BAG58136;BAG61354;EAW95050;EAW95051;EAW95052;EAW95053;NP_001137250;NP_060177;Q8TDY4;XP_005245991 Hs.437379 1644317;1697132;1732998;1777876;1850009;2139641 Cda0dc08;D1S1370;D1S3162;RH102051;RH18164;SHGC-74378 ACAP4;CENTB6;DDEFL1;FLJ20199;UPLC1 ARF6 GTPase-activating protein;ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 1;OTTHUMP00000003268;OTTHUMP00000003269;OTTHUMP00000235356;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3;centaurin, beta 6;development and differentiation enhancing factor-like 1;development and differentiation-enhancing factor-like 1;protein up-regulated in liver cancer 1;up-regulated in liver cancer 1 (UPLC1) APPROVED protein-coding ENSG00000088280 HGNC:14987 11662 REVIEWED 1313189 ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 2 2 2 p25 9258815 9457991 + 9346894 9545812 + 9206765 9405683 + 1580863;6480464;6907045;8554872 10022920;10749932;11304556;11716503;12149250;12421765;12477932;14702039;15231847;15483625;15489334;15719014;17081983;17255943;17353931;17474147;18654987;18685082;19010793;19322201;20936779;20944657;21110914;22178446;22963397;23999061;9455477;9819391 8853 O43150;Q8N282 AA918883;AB007860;ABBA01015577;ABBA01015578;ABBA01015579;ABBA01015580;ABBA01015581;ABBA01015582;ABBA01015583;ABBA01015584;AC079782;AC080162;AC093904;AK091121;AK124900;AMYH02003246;AMYH02003247;AMYH02003248;BC063308;CH471053;NM_001135191;NM_003887;XM_006711898;XM_006711899;XM_006711900;XM_006711901;XM_006711902 AAH63308;AAY14856;AAY14904;AAY24112;BAA23696;BAC03588;EAX01002;EAX01003;EAX01004;EAX01005;EAX01006;NP_001128663;NP_003878;O43150;XP_006711961;XP_006711962;XP_006711963;XP_006711964;XP_006711965 Hs.555902 1694580;1706884;1764841;2109219;2136828;2165085;2172111 D2S1665E;DDEF2_4683;G43274;RH12299;RH16639;SHGC-148404;SHGC-80929 AMAP2;CENTB3;DDEF2;FLJ42910;KIAA0400;PAG3;PAP;Pap-alpha;SHAG1 OTTHUMP00000145855;PYK2 C terminus-associated protein;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2;centaurin, beta 3;development and differentiation enhancing factor 2;development and differentiation-enhancing factor 2;paxillin-associated protein with ARF GAP activity 3;pyk2 C-terminus-associated protein APPROVED protein-coding ENSG00000151693 HGNC:2721 04820 603817 REVIEWED 1602895 ASAP1-IT1 ASAP1 intronic transcript 1 (non-protein coding) INTERACTS WITH copper(2+) sulfate; cyclosporin A; zinc atom 8 8 8 q24.21 127487751 127488929 - 131307601 131308779 - 130295355 130296533 - 6480464 11042152 29065 ABBA01037979;AC009682;AF161539;AMYH02018785;NG_030354;NR_002765 Hs.639318 ASAP1-IT;ASAP1IT;ASAP1IT1;DDEF1IT1;HSPC054;NCRNA00050 APPROVED ncrna HGNC:24998 VALIDATED 1321850 ASB1 ankyrin repeat and SOCS box containing 1 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008] 2 2 2 q37 233048109 233073377 + 239335382 239360891 + 238426741 238452250 + 1580863;6480464 10574461;11111040;11509662;12076535;12477932;15489334;16325183;16751776;18029348;18187417;19159283;20237496;21145461;21946350;24337577;8619474;9110174 51665 B9A047;F8WBM8;Q9Y576 AB032972;ABBA01042606;AC016999;AF055024;AF156777;AMYH02006073;BC014528;CH471063;NM_001040445;XM_005246080;XR_241235;XR_241236;XR_241237 AAD41894;AAH14528;AAX88934;ADZ15870;BAA86460;EAW71158;EAW71159;NP_001035535;Q9Y576;XP_005246137 Hs.516788 2106441;2126215;2162569;2183832 ASB1_3826;RH35763;SGC30171;WI-20724 ASB-1;KIAA1146;MGC11165 OTTHUMP00000202577;OTTHUMP00000202578;ankyrin repeat and SOCS box protein 1;ankyrin repeat and SOCS box-containing 1 APPROVED protein-coding ENSG00000065802 HGNC:16011 05767 605758 REVIEWED 1344351 ASB11 ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] X X X p22.31 19417215 19449322 - 15293800 15333788 - 15275681 15315664 - 1580863;6480464 12076535;12477932;15489334;16893969;18029348;24337577 140456 F8WF31;Q7Z670;Q8WXH4 ABBA01071284;ABBA01071285;ABBA01071286;ABBA01071287;ABBA01071288;ABBA01071289;AC095351;AF425642;AMYH02038912;AX356190;AX356192;BC069340;BC103873;BC103874;BC103875;BX537853;BX537857;CH471074;NG_012627;NM_001012428;NM_001201583;NM_080873;XM_005274444;XM_006724463;XM_006724464 AAH69340;AAI03875;AAI03876;AAL60519;CAD23023;CAD23024;CAD97861;CAD97864;EAW98877;EAW98878;NP_001012428;NP_001188512;NP_543149;Q8WXH4;XP_005274501;XP_006724526;XP_006724527 Hs.352183 1340271;5037552 D8S2279;DXS9902 ASB-11;DKFZp779E2460;MGC119168;MGC119169 OTTHUMP00000022958;OTTHUMP00000215046;OTTHUMP00000215047;ankyrin repeat and SOCS box protein 11;ankyrin repeat and SOCS box-containing 11;ankyrin repeat and SOCS box-containing protein 11, isoform a;ankyrin repeat domain-containing SOCS box protein ASB11 APPROVED protein-coding ENSG00000165192 HGNC:17186 06450 300626 REVIEWED 1353086 ASB10 ankyrin repeat and SOCS box containing 10 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008] 7 7 7 q36.1 145430126 145442260 - 150872785 150884919 - 151175698 151187832 - 1580863;6480464;7240710;8554872 12076535;12477932;12690205;14702039;15489334;16325183;16344560;21988832;22156576;22798626;23455924;23901248;24337577 136371 F8WB38;Q8WXI3 AACC02000108;ABBA01035161;ABBA01035162;AC010973;AF417920;AK055536;AK125565;AK315114;AMYH02017071;BC126351;CH471173;DA898875;NG_017016;NM_001142459;NM_001142460;NM_080871;XM_005249949 AAI26352;AAL59159;BAC86204;EAL24504;EAW54020;EAW54021;EAW54022;NP_001135931;NP_001135932;NP_543147;Q8WXI3;XP_005250006 Hs.647081 GLC1F OTTHUMP00000211301;OTTHUMP00000211302;OTTHUMP00000211303;ankyrin repeat and SOCS box protein 10;ankyrin repeat and SOCS box-containing 10;glaucoma 1, open angle, F (adult-onset) APPROVED protein-coding ENSG00000146926 HGNC:17185 603383;615054 REVIEWED 1321264 ASB13 ankyrin repeat and SOCS box containing 13 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010] 10 10 10 p15.1 5611177 5638957 - 5680820 5708558 - 5638857 5666595 - 1580863;6480464 12076535;12477932;14702039;15164054;15342556;15489334;16169070;16189514;16325183;20677014;21145461;21900206;24337577;24529757 79754 Q8WXK3 ABBA01034772;ABBA01034773;ABBA01034774;ABBA01034775;AF403031;AI377400;AK023196;AK091935;AK292071;AL365356;AMYH02022046;BC012056;BG436652;BP249999;CH471072;CR457302;NM_024701;NR_024581;NR_037164;XM_006717507 AAH12056;AAL57350;BAB14456;BAF84760;CAG33583;EAW86435;EAW86436;EAW86437;EAW86438;EAW86439;NP_078977;Q8WXK3;XP_006717570 Hs.445899 1721953;1787546;2157283 G59862;RH46010;SHGC-155672 FLJ13134;MGC19879 OTTHUMP00000019006;ankyrin repeat and SOCS box protein 13;ankyrin repeat and SOCS box-containing 13;ankyrin repeat domain-containing SOCS box protein Asb-13 APPROVED protein-coding ENSG00000196372 HGNC:19765 10667 615055 REVIEWED 1349928 ASB12 ankyrin repeat and SOCS box containing 12 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011] X X X q11.2 63790909 63792336 - 63444072 63450511 - 64224192 64230631 - 1580863;6480464;8554872 12076535;12477932;14702039;15489334;15772651;16325183;16344560;18976975;20211142;24337577;7566098 142689 Q8WXK4 AA349954;ABBA01066881;ABBA01066882;AF403030;AK096896;AK300684;AL356317;AMYH02039596;BC069436;BC069555;BC093883;BC104946;CH471132;DA560184;NG_012823;NM_130388 AAH69436;AAH69555;AAH93883;AAI04947;AAL57349;BAC04888;BAG62367;EAX05414;NP_569059;Q8WXK4 Hs.56281 1699460;1771385;5492429 RH103321;RH41896;UniSTS:480997 FLJ39577 OTTHUMP00000023429;ankyrin repeat and SOCS box protein 12;ankyrin repeat and SOCS box-containing 12;ankyrin repeat domain-containing SOCS box protein Asb-12 APPROVED protein-coding ENSG00000198881 HGNC:19763 06451 300891 REVIEWED 1603501 ASB16-AS1 ASB16 antisense RNA 1 INTERACTS WITH cyclosporin A; paracetamol; quercetin 17 17 17 q21.31 38962081 38972816 - 42253341 42264085 - 44175973 44186717 - 6480464 12477932;14702039;15146197;15862967;16344560;16712791 339201 Q495Z4 ABBA01028383;ABBA01028384;AC004596;AK055685;AL833953;AMYH02033472;BC009448;BC100964;BC100965;BC100966;BC100967;CB151608;CH471178;CN367999;DA567080;HG509081;HG509083;HG509084;NR_049729;NR_049730 AAH09448;AAI00965;AAI00966;AAI00967;AAI00968;BAG51556;EAW51625;EAW51626;Q495Z4 Hs.656564 5118576;5492847 D11S3430;UniSTS:483028 C17orf65;DKFZp762C2414;MGC119234 hypothetical protein LOC339201;uncharacterized protein C17orf65 APPROVED ncrna ENSG00000267080 HGNC:25442 13231 VALIDATED 1343044 ASB14 ankyrin repeat and SOCS box containing 14 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008] 3 3 3 p21.1 57267953 57292330 - 57302379 57326753 - 57268351 57292725 - 1580863;6480464;8554872 10737800;12076535;12477932;16325183;24337577 142686 A6NK59 ABBA01024422;AC093928;AF403032;AL832472;AMYH02006863;AMYH02006864;BC114953;BE004392;CH471055;NM_001142733;NM_130387;XM_005264884;XM_005264885;XM_006712982 A6NK59;AAI14954;AAL57351;EAW65337;EAW65338;NP_001136205;NP_569058;XP_005264941;XP_005264942;XP_006713045 Hs.665154;Hs.745243 1650567;1675937;1735162 D3S2814E;RH99000;SHGC-77071 DKFZp313L0121 OTTHUMP00000213143;ankyrin repeat and SOCS box protein 14;ankyrin repeat and SOCS box-containing 14;ankyrin repeat domain-containing SOCS box protein Asb-14 APPROVED protein-coding ENSG00000239388 HGNC:19766 10668 REVIEWED 1313384 ASB16 ankyrin repeat and SOCS box containing 16 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38956789 38965185 + 42248074 42256650 + 44170706 44179083 + 1580863;6480464 12076535;12477932;14702039;15489334;16325183;17474147;20379614;24337577 92591 K7ELE0;K7EM41;Q96NS5 ABBA01028384;ABBA01028385;AC004596;AF403034;AK054727;AK314595;AMYH02033472;AY557346;BC075088;BC118584;BC118585;CH471178;NM_080863 AAH75088;AAI18585;AAI18586;AAL57353;AAS67920;BAB70800;BAG37167;EAW51627;EAW51628;NP_543139;Q96NS5 Hs.534517 5022651;5492521 D11S2921;UniSTS:481453 FLJ30165;MGC141876;MGC141877 ankyrin repeat and SOCS box protein 16;ankyrin repeat and SOCS box-containing 16;ankyrin repeat and SOCS box-containing protein 16 APPROVED protein-coding ENSG00000161664 HGNC:19768 10670 615056 REVIEWED 1346506 ASB15 ankyrin repeat and SOCS box containing 15 This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 7 7 7 q31.31 118052868 118081688 + 123241882 123277951 + 123601836 123637897 + 1580863;6480464;8554872 12076535;12477932;14702039;16012773;16325183;17672918;24337577 142685 C9J956;Q8WXK1 ABBA01057731;AC006333;AF403033;AF428257;AK125360;AMYH02016680;AMYH02016681;BC100874;BC100875;BC100876;BC100877;CH236947;CH471070;CR749595;NG_034019;NM_001290258;NM_080928;XM_005250144;XM_005250145;XM_005250146;XM_005250147;XM_005250148;XM_005250149;XM_006715853 AAI00875;AAI00876;AAI00877;AAI00878;AAI66689;AAL57352;AAP97297;AAQ96857;BAC86146;CAH18393;EAW83594;EAW83595;EAW83596;NP_001277187;NP_563616;Q8WXK1;XP_005250201;XP_005250202;XP_005250203;XP_005250204;XP_005250205;XP_005250206;XP_006715916 Hs.83916 1678675 RH98583 ASB-15;DKFZp779M1258;FLJ43370 OTTHUMP00000211495;OTTHUMP00000211496;OTTHUMP00000211497;OTTHUMP00000211498;ankyrin repeat and SOCS box protein 15;ankyrin repeat and SOCS box-containing 15 APPROVED protein-coding ENSG00000146809 HGNC:19767 10669 REVIEWED 1602398 ASB18 ankyrin repeat and SOCS box containing 18 INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); INTERACTS WITH choline (ortholog); folic acid (ortholog); L-methionine (ortholog) 2 2 2 q37.2 230816647 230886004 - 237103515 237172988 - 236194872 236264345 - 6480464 12076535;16325183;20339536;23722424;24337577 401036 C9JFL4;H7C3E8;Q6ZVZ8 ABBA01042571;ABBA01042572;AC019068;AC079135;AK123854;AMYH02006051;AMYH02006052;AMYH02006053;AMYH02006054;BX647589;NM_212556 AAI72346;BAC85710;NP_997721;Q6ZVZ8 Hs.639909 1659351;1784166;5015619;5037552 D11S3114;D2S1972;D8S2279;SHGC-155069 ASB-18;DKFZp313I1130 OTTHUMP00000203076;ankyrin repeat and SOCS box protein 18;ankyrin repeat and SOCS box-containing 18 APPROVED protein-coding ENSG00000182177 HGNC:19770 16514 PROVISIONAL 1343895 ASB17 ankyrin repeat and SOCS box containing 17 INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); INTERACTS WITH copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p31.1 74624762 74638320 - 76384558 76398116 - 75918873 75932431 - 1580863;6480464 12076535;12477932;14702039;15204681;15489334;16325183;17207965;22939624;24337577 127247 Q4G1B1;Q8WXJ9 ABBA01074414;AC092813;AF403035;AF429968;AK098606;AL445464;AMYH02001286;AMYH02001287;BC022517;BC036573;CH471059;HC006782;HC044789;NM_080868;NR_026546;XM_006710345;XM_006710346 AAH22517;AAH36573;AAL57354;AAN85310;ADQ32483;BAC05350;CBH19197;CBH30724;EAX06391;NP_543144;Q8WXJ9;XP_006710408;XP_006710409 Hs.125423 2113684 AB071128 Asb-17 OTTHUMP00000011348;ankyrin repeat and SOCS box protein 17;ankyrin repeat and SOCS box-containing 17 APPROVED protein-coding ENSG00000154007 HGNC:19769 10671 VALIDATED 1315012 ASB2 ankyrin repeat and SOCS box containing 2 This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 14 14 14 q31-q32 74454282 74477544 - 94400499 94443085 - 93934153 93976739 - 1580863;6480464;8554872 11111040;11566180;11682484;12076535;12477932;14702039;15014966;15231748;15489334;15590664;16325183;18029348;18799729;19159283;19300455;19376791;21119685;21737450;21750192;21969365;22174154;22382022;22916308;22939624;24044920;24052262;24337577;9419338 51676 G3V2Z2;G3V3P8;G3V484;G3V4B2;Q96Q27 AB056723;AB488462;ABBA01030427;AF159164;AJ251238;AK002049;AK057078;AK093271;AK303686;AK315628;AL079302;AL132642;AL137735;AMYH02029776;AMYH02029777;AMYH02029778;BC032354;CH471061;NM_001202429;NM_016150;XM_005267758;XM_006725165 AAD45345;AAH32354;ABM82256;ABM85439;BAB64532;BAG37996;BAG51006;BAG51858;BAG64678;BAI77868;CAB70899;CAC17765;EAW81540;EAW81541;EAW81542;EAW81543;NP_001189358;NP_057234;Q96Q27;XP_005267815;XP_006725228 Hs.510327 1650498 RH65774 ASB-2;MGC40044 OTTHUMP00000245755;OTTHUMP00000245756;OTTHUMP00000245757;ankyrin repeat and SOCS box protein 2;ankyrin repeat and SOCS box-2 containing protein;ankyrin repeat and SOCS box-containing protein 2a;ankyrin repeat-containing protein ASB-2 APPROVED protein-coding ENSG00000100628 HGNC:16012 05768 605759 REVIEWED 1348810 ASB4 ankyrin repeat and SOCS box containing 4 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008] 7 7 7 q21-q22 89814002 89865786 + 95115213 95169543 + 95485901 95540231 + 1580863;6480464;8554872 11076863;11111040;12076535;12477932;12690205;12853948;14702039;15929745;17276034;17636018;22939624;24337577;24586788 51666 Q9Y574 ABBA01045776;ABBA01045777;AC002451;AC003079;AF156779;AK096449;AMYH02016291;BC025024;BC113479;BC113481;CH236949;CH471091;NM_016116;NM_145872 AAB83943;AAD41896;AAH25024;AAI11595;AAI13480;AAI13482;ADR83137;EAL24129;EAL24130;EAW76760;EAW76761;EAW76762;NP_057200;NP_665879;Q9Y574 Hs.602765;Hs.737518 1335993;1339980;1691392;2107859;5095092;7185349;7186554 ASB4_8047;D7S2431;D7S2482;G42093;MARC_51748-51749:1152645132:4 ASB-4;MGC142039;MGC142041 OTTHUMP00000204731;OTTHUMP00000204732;ankyrin repeat and SOCS box protein 4;ankyrin repeat and SOCS box-containing 4 APPROVED protein-coding ENSG00000005981 HGNC:16009 05770 605761 REVIEWED 1318243 ASB3 ankyrin repeat and SOCS box containing 3 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011] 2 2 2 p16.2 53737972 53854933 - 53897117 54014146 - 53669980 53787009 - 6480464 11111040;11509662;12076535;12477932;14702039;15489334;15899873;16344560;17353931;18187417;19322201;21145461;21988832;22939624;23251661;23455924;24250222;24337577;8125298 51130 B4DZX6;Q9Y575 AB209795;ABBA01075236;ABBA01075237;AC007883;AC008064;AF156778;AK000985;AK001283;AK056069;AK222595;AK222715;AK303133;AMYH02003835;AX875799;BC006488;BC009569;CH471053;DA038561;DB558848;NM_001201965;NM_016115;NM_145863 AAD41895;AAH06488;AAH09569;AAX93180;AAY24350;ABM84179;ABM87581;BAA91455;BAA91599;BAD93032;BAD96315;BAD96435;BAG51615;BAG64238;CAE89009;EAX00167;EAX00168;EAX00169;EAX00170;EAX00171;NP_001188894;NP_057199;NP_665862;Q9Y575 Hs.40763 1673255;1715515;1847441;2168157;2173021;2217032 A006Z48;ASB3_3822;D2S2570;G27383;RH120980;SHGC-12264 ASB-3;FLJ10123;FLJ10421;MGC12531;MGC132002;MGC996 OTTHUMP00000159607;OTTHUMP00000198696;OTTHUMP00000200612;OTTHUMP00000200662;ankyrin repeat and SOCS box protein 3;ankyrin repeat and SOCS box-containing 3 APPROVED protein-coding ENSG00000115239 HGNC:16013 05769 605760 REVIEWED 1318216 ASB6 ankyrin repeat and SOCS box containing 6 The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011] 9 9 9 q34.13 103047698 103055260 - 132396883 132404496 - 129634604 129642217 - 6480464 12076535;12477932;14702039;15231829;15489334;16325183;16344560;16751776;17207965;19159283;19322201;21139048;21145461;21832049;22053931;22797925;22863883;22939624;24337577;8125298 140459 B4DRC4;Q9NWX5 ABBA01043939;AK000555;AK023004;AK093539;AK225618;AK292807;AK299193;AL390135;AL590369;AMYH02021741;BC001719;BC065913;BX648923;CH471090;CR627462;DA953275;NM_001202403;NM_017873;NM_177999;XM_005251713 AAH01719;AAH65913;ACE86653;ACE87335;ADQ32604;ADZ15715;BAA91250;BAB14355;BAF85496;BAG61236;CAH10563;EAW87896;EAW87897;EAW87898;EAW87899;EAW87900;NP_001189332;NP_060343;NP_821066;Q9NWX5;XP_005251770 Hs.125037 1689053;1852246;2110265;5014029;5015619;5020740;5020946;5022578;5022651;5024039;5037552 ASB6_8143;D11S2921;D11S3114;D13S1639;D16S325;D1S1423;D8S2279;L17809;L17971;RH93952;SGC32655 ASB-6;FLJ20548;MGC1024 OTTHUMP00000022342;OTTHUMP00000022343;ankyrin repeat and SOCS box protein 6;ankyrin repeat and SOCS box-containing 6 APPROVED protein-coding ENSG00000148331 HGNC:17181 10673 615051 REVIEWED 1352084 ASB5 ankyrin repeat and SOCS box containing 5 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008] 4 4 4 q34.2 174462813 174518217 - 177134824 177198722 - 176213673 176277571 - 1580863;6480464;8554872 12076535;12477932;14702039;15489334;17207965;20379614;24337577 140458 D6R9Q2;Q5HYF3;Q8WWX0 ABBA01070411;ABBA01070412;AC019163;AC093605;AK096441;AK098693;AMYH02010552;AMYH02010553;AMYH02010554;AMYH02010555;AY057053;BC065710;BX647857;CH471056;NM_080874;XM_005262759;XM_005262760 AAH65710;AAL18248;ADQ32071;BAC04791;BAC05382;CAI46074;EAX04720;NP_543150;Q8WWX0;XP_005262816;XP_005262817 Hs.591712 ASB-5 OTTHUMP00000218996;OTTHUMP00000218997;SOCS box protein ASB-5;ankyrin repeat and SOCS box protein 5;ankyrin repeat and SOCS box-containing 5 APPROVED protein-coding ENSG00000164122 HGNC:17180 10672 615050 REVIEWED 1313017 ASB7 ankyrin repeat and SOCS box containing 7 The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 77556003 77605160 + 101142755 101191906 + 100602550 100651701 + 6480464;8554872 12076535;12477932;14702039;15203218;16159877;16325183;17207965;18029348;21145461;21988832;22797925;23006423;24250222;24337577;8125298 140460 H0YMJ1;Q9H672 AA830153;ABBA01020536;AC090695;AF451994;AK026204;AK057921;AK094123;AK222958;AK222974;AK289860;AMYH02031162;AMYH02031163;AMYH02031164;BC025252;BC063581;BQ933001;CD632230;CH471101;NM_024708;NM_198243 AAH63581;AAP97683;ADQ32570;BAB15392;BAD96678;BAD96694;BAF82549;EAX02274;EAX02275;EAX02276;EAX02277;NP_078984;NP_937886;Q9H672 Hs.31845;Hs.709044 1650456;1682912;1758427;2138680;2149886;2217034 ASB7_3711;D15S1314;RH93847;SHGC-148298;SHGC-52663;STS-N20924 ASB-7;FLJ22551;FLJ25192 OTTHUMP00000194832;OTTHUMP00000194833;ankyrin repeat and SOCS box protein 7;ankyrin repeat and SOCS box-containing 7 APPROVED protein-coding ENSG00000183475 HGNC:17182 10674 615052 REVIEWED 1319481 ASB8 ankyrin repeat and SOCS box containing 8 INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2-methylcholine; valproic acid; 17alpha-ethynylestradiol (ortholog) 12 12 12 q13.11 47339076 47348938 - 48541572 48551377 - 48147789 48157594 - 1580863;6480464 12076535;12477932;12559969;14702039;15489334;16341674;17207965;18029348;19159283;20211142;21988832;24250222;24337577 140461 B4DLI4;F5GYF0;F5GZZ3;F5H023;F5H243;F5H5S9;F5H6A7;F5H772;F5H7B4;F8VS92;Q9H765 ABBA01031475;ABBA01031476;AC074029;AF464877;AK024908;AK125596;AK289957;AK297013;AMYH02026419;BC001321;BM837218;BQ009637;CH471111;CR457336;NM_024095;XM_005268654 AAH01321;AAQ04830;ADQ31852;BAB15033;BAC86214;BAF82646;BAG59546;CAG33617;EAW57976;NP_077000;Q9H765;XP_005268711 Hs.432699 1337159;1779330;2109065;2171412;5015619;5015861;5022200;5022450;7185938 ASB8_8144;D10S16;D10S275;D11S3114;DXS8011;L18426;SHGC-153332;WI-15661 ASB-8;FLJ21255;MGC5540;PP14212 OTTHUMP00000237000;OTTHUMP00000237001;OTTHUMP00000237007;OTTHUMP00000237009;OTTHUMP00000237010;ankyrin repeat and SOCS box protein 8;ankyrin repeat and SOCS box-containing 8 APPROVED protein-coding ENSG00000177981 HGNC:17183 10675 615053 VALIDATED 1344669 ASB9 ankyrin repeat and SOCS box containing 9 This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X p22.2 19377104 19404177 - 15262109 15288589 - 15243987 15270467 - 1580863;6480464 12076535;12477932;14702039;15489334;16189514;16325183;16344560;17148442;18029348;18680464;19060904;19159283;19275750;20211142;20302626;20878058;22418839;23806657;23837592;24337577;24654937 140462 Q7Z4A2;Q96DX5;R4GN94 ABBA01071278;ABBA01071279;ABBA01071280;ABBA01071281;ABBA01071282;ABBA01071283;AC095351;AK000643;AK292270;AL080091;AMYH02038912;AY337578;BC001244;BC013172;CH471074;DA943920;NG_016218;NM_001031739;NM_001168530;NM_001168531;NM_024087;XM_005274446;XM_005274448;XM_006724465;XM_006724466 AAH01244;AAH13172;AAQ17469;BAA91302;BAF84959;CAB45706;EAW98870;EAW98871;EAW98872;EAW98873;EAW98874;EAW98875;EAW98876;NP_001026909;NP_001162002;NP_001162003;NP_076992;Q96DX5;XP_005274503;XP_005274505;XP_006724528;XP_006724529 Hs.19404 1698814;1761867 RH102971;SHGC-145813 ASB-9;DKFZp564L0862;FLJ20636;MGC4954 OTTHUMP00000022955;OTTHUMP00000022956;OTTHUMP00000022957;ankyrin repeat and SOCS box protein 9;ankyrin repeat and SOCS box-containing 9;ankyrin repeat and suppressor of cytokine signaling box protein 9 APPROVED protein-coding ENSG00000102048 HGNC:17184 06452 300890 REVIEWED 1350086 ASCC1 activating signal cointegrator 1 complex subunit 1 This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 10 10 10 pter-q25.3 67139520 67259405 - 73855790 73976892 - 72096032 72217232 - 1580863;5128512;6480464;8699517;7240710 16394250 10567404;10810093;12077347;12477932;14702039;15489334;16344560;16385451;17207965;19074642;19322201;19680556;21139048;21791690;21890473;21906983;21963094;23000965;24250222 51008 B3KU20;E9PJM2;E9PKM6;E9PL92;E9PM82;E9PQ44;E9PQZ6;E9PR40;H0YCB3;H0YE76;H0YE79;H0YER2;Q8N9N2 AA805081;ABBA01020360;ABBA01020361;ABBA01020362;ABBA01020363;ABBA01020364;ABBA01020365;ABBA01020366;AC022392;AF132952;AK023436;AK094170;AK096409;AK124364;AK298302;AL359339;AL607035;AMYH02023306;AMYH02023307;AMYH02023308;AMYH02023309;AW006945;AY013290;BC012291;CD706699;CH471083;DA297980;DA582532;DA942671;DA951859;DC361917;NG_031890;NM_001198798;NM_001198799;NM_001198800;NR_045564;XM_005269878;XM_006717872;XM_006717873;XM_006717874;XM_006717875;XM_006717876 AAD27727;AAG45476;AAH12291;ADQ32766;BAC04299;BAG51193;BAG53282;BAH12754;EAW54444;EAW54445;EAW54446;EAW54447;NP_001185727;NP_001185728;NP_001185729;Q8N9N2;XP_005269935;XP_006717935;XP_006717936;XP_006717937;XP_006717938;XP_006717939 Hs.500007 1666750;1700932;1721073;1736020;1739587;2115005;2148615;2161901;2167187;2218258;5022578;5024039 ASCC1_4380;D10S1300E;D10S1349E;D10S1351E;D16S325;D1S1423;D9S1745E;G59519;RH104093;RH137;SHGC-5957;WI-17675 ASC1p50;CGI-18;RP11-150D20.4;p50 ASC-1 complex subunit P50;OTTHUMP00000019781;OTTHUMP00000019782;OTTHUMP00000019783;OTTHUMP00000019784;OTTHUMP00000229899;OTTHUMP00000229901;trip4 complex subunit p50 APPROVED protein-coding ENSG00000138303 HGNC:24268 614215;614266 REVIEWED 4140134 ASB9P1 ankyrin repeat and SOCS box containing 9 pseudogene 1 15 15 15 q26.1 69750740 69752364 + 93338714 93340338 + 92795484 92797108 + 728619 ABBA01053097;AC106028;AMYH02031074;BG059734;NR_033769 Hs.684129 APPROVED pseudo HGNC:20972 PROVISIONAL 1344771 ASCC3 activating signal cointegrator 1 complex subunit 3 This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 6 6 6 q16 101600815 101973409 - 100956325 101329243 - 100508194 100881372 - 1580863;6480464;8554872 10218103;11076863;11230166;11256614;12077347;12477932;14702039;15146197;15231748;15489336;16381901;17000644;18029348;19596686;19615732;19913121;19946888;20379614;20453000;20628086;21139048;21145461;21890473;21906983;21963094;22055184;22505724;22566634;22586326;23000965;23022380;23667531;23781071;24163370;24639526;24816145;8889548 10973 B4DR60;E5RFZ0;J3KNJ4;Q8N3C0 AA788717;ABBA01014466;ABBA01014467;ABBA01014468;ABBA01014469;ABBA01014470;AI803859;AJ223948;AK023189;AK299117;AK307903;AK315197;AL121965;AL133338;AL356122;AL513207;AL591585;AL834463;AMYH02014195;AMYH02014196;AMYH02014197;AY013288;BC014358;BC026066;BC039857;BC050681;BC125211;BC125212;BC130038;BU686034;BX415629;CH471051;CN255848;NM_001284271;NM_006828;NM_022091;XM_006715322;Z86062 AAG45474;AAH26066;AAH50681;AAI25212;AAI25213;AAI50216;BAG37637;BAG61172;CAA11679;CAD39122;CAL38260;EAW48449;EAW48450;NP_001271200;NP_006819;NP_071374;Q8N3C0;XP_006715385 Hs.486031;Hs.733060 1646578;1671003;1672638;1718161;1718311;1727457;1727525;1752163;1774817;2122507;2146941;5021341;5491579;5492005 AFM176xg9;D6S1153E;D6S1409;G62986;G63020;MARC_10283-10284:998926151:3;MARC_21686-21687:1044297767:1;RH122848;RH122927;RH65182;RH67970;SGC38363;SHGC-106043;ksks1 ASC1p200;DJ467N11.1;HELIC1;MGC26074;RNAH;dJ121G13.4;p200 ASC-1 complex subunit P200;B630009I04Rik;OTTHUMP00000016904;OTTHUMP00000016905;RNA helicase family;helicase, ATP binding 1;trip4 complex subunit p200 protein-coding ENSG00000112249 HGNC:18697 09980;16805 614217 REVIEWED 736393 ASCL1 achaete-scute family bHLH transcription factor 1 This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008] 12 12 12 q23.2 103015725 103018566 + 103351452 103354294 + 102957674 102960516 + 1300289;1580863;2314146;2314147;6480464;7240710;8554872;8699517 11564418;16730914;8221886 10656681;10903890;11171979;11309412;11564735;11736660;11825874;11940670;11948117;12000752;12050665;12477932;12858003;14532329;14668716;14759067;15240857;15272537;15489334;15492808;15701827;16021468;16029117;16103883;16160079;16344560;16899352;17507989;17923682;18311112;18339843;18491256;18585058;18587321;18587322;18802035;19008346;19097999;19176379;19744316;20097173;20124469;20206680;20301600;20515335;20538960;20659153;20677557;20842449;21300955;21495212;21573214;21684625;21737174;21856745;22172490;22422124;23300791;23375646;23530560;23657976;23707066;23739064;23739972;24037524;24982138;8390674;8595908;8662987;8900141;8948587;9126746;9186001;9197246 429 P50553 ABBA01053222;AC026108;AK290539;AMYH02027078;AW071836;BC001638;BC002341;BC003134;BC004425;BC031299;CF454566;CH471054;DA005289;L08424;NG_008950;NM_004316 AAA58376;AAH02341;AAH03134;AAH04425;AAH31299;ABM85497;ABW03754;BAF83228;EAW97703;NP_004307;P50553 Hs.703025 1682213;1744039;1762319;1795402;1847801;2147997;2153903 ASCL1_704;G10653;GDB:384904;RH92884;SHGC-146165;STS-L08424;WI-9226 ASH-1;ASH1;HASH1;MASH1;bHLHa46 OTTHUMP00000242539;achaete scute protein;achaete-scute complex homolog 1;achaete-scute complex homolog-like 1 (drosophila);achaete-scute complex-like 1;achaete-scute homolog 1;class A basic helix-loop-helix protein 46 APPROVED protein-coding ENSG00000139352 HGNC:738 00011 100790;209880 REVIEWED 1347917 ASCC2 activating signal cointegrator 1 complex subunit 2 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; elemental selenium 22 22 22 q12.1 13984318 14033974 - 30184597 30234293 - 29788608 29838304 - 6480464 10591208;12077347;12477932;14702039;15231748;15342556;15489334;16009131;16169070;18029348;20211142;21139048;21906983;21988832;24478790;24816145;8125298;9847074 84164 B1AH59;B1AH60;F2Z2W4;F8WAQ6;H7C395;H7C3Y4;Q9H1I8 AA765659;ABBA01055281;ABBA01055282;ABBA01055283;ABBA01055284;AC004882;AK022886;AK025241;AK222723;AK223033;AK303257;AL096741;AMYH02038208;AY013289;BC025368;BC032760;BP201867;BQ017078;BU508026;CH471095;NM_001242906;NM_032204;XM_005261775;XM_005261776;XM_005261777;XM_005261778;XM_005261779;XM_006724334;XM_006724335;XM_006724336;XM_006724337;Z82171 AAG45475;AAH25368;BAB14293;BAB15089;BAD96443;BAD96753;BAH13926;CAH56409;EAW59842;EAW59843;EAW59844;EAW59845;EAW59846;EAW59847;EAW59848;NP_001229835;NP_115580;Q9H1I8;XP_005261832;XP_005261833;XP_005261834;XP_005261835;XP_005261836;XP_006724397;XP_006724398;XP_006724399;XP_006724400 Hs.731754 5017627;5021878 ASCC2;ha1770 ASC1p100;p100 ASC 1 complex subunit P100;ASC-1 complex subunit P100;OTTHUMP00000070973;OTTHUMP00000199727;trip4 complex subunit p100 protein-coding ENSG00000100325 HGNC:24103 16515 614216 VALIDATED 735625 ASCL2 achaete-scute family bHLH transcription factor 2 This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 2325551 2328006 - 2289728 2292182 - 2268498 2270952 - 1580863;6480464 10757985;11440538;12099555;12477932;12482968;12670868;12917334;14561729;16568095;17165436;20479215;20856196;22384170;23181270;23936387;24463518;8751384;9175731;9610003 430 Q99929 ABBA01032096;ABBA01032097;AC129929;AF442769;AMYH02024187;BC028140;BC057801;BC136561;BC136567;NM_005170;S82817;U77629 AAB39362;AAB86993;AAH57801;AAI36562;AAI36568;AAL35362;NP_005161;Q99929 Hs.152475 1792994;1806878;1816836;1816918;1829630;1835798;1844924;2092396;2092398;2092400;2092402;2092404;2092406;2092408;2092410;2092412;2092414;2092416;2092418;2092420;2216880;2216882 ECD04404;ECD09464;ECD09508;ECD15947;ECD19060;ECD23678;PMC180905P1;REN117481;REN117482;REN117483;REN117484;REN117485;REN117486;REN117487;REN117488;REN117489;REN117490;REN117491;REN117492;REN117493;stSG548787;stSG548788 ASH-2;ASH2;HASH2;MASH2;bHLHa45 OTTHUMP00000011229;achaete-scute complex homolog 2;achaete-scute complex homolog-like 2 (drosophila);achaete-scute complex-like 2;achaete-scute homolog 2;class A basic helix-loop-helix protein 45;mammalian achaete/scute homologue 2 APPROVED protein-coding ENSG00000183734 HGNC:739 03533 601886 VALIDATED 1351055 ASD1 atrial septal defect 1 ASSOCIATED WITH Atrial Septal Defect 1 (inferred) 7240710 9610535 431 HGNC:741 108800 1323657 ASF1A anti-silencing function 1A histone chaperone This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008] 6 6 6 q22.31 119959803 119974994 + 119215241 119230336 + 118894077 118909171 + 6480464;9068945 23288364 10759893;10810093;11042152;11172707;11230166;11256614;11470414;11897662;12093919;12477932;12660173;12842904;14718166;15073177;15213445;15621527;15664198;15840725;16169070;16344560;16980972;17054786;17207965;17242207;17292837;17293877;17328667;17940067;18096807;18378699;18971269;19029251;19305408;19410544;19862764;20016786;20227376;20308539;20393127;20504901;20800603;21055984;21113133;21347226;21414300;21724829;21807893;22247756;22401310;22407294;22863883;22951827;23075851;23178455;23222847;24209620;24413054;24700029;24816145;25035411 25842 Q9Y294 AA481056;AB028628;ABBA01026024;AC247045;AF151856;AF161495;AF279306;AK025738;AL050261;AL132874;BC010878;CH471051;CR457347;DA902777;FP885910;NM_014034 AAD34093;AAF29110;AAH10878;AAK82972;ADQ32460;BAA96542;BAB15228;CAB43363;CAG33628;EAW48193;NP_054753;Q9Y294 Hs.292316 1700536 RH103889 CGI-98;CIA;DKFZp547E2110;HSPC146;hAsf1;hAsf1a;hCIA ASF1 anti-silencing function 1 homolog A;CCG1-interacting factor A;OTTHUMP00000218808;anti-silencing function 1A;anti-silencing function protein 1 homolog A;histone chaperone ASF1A APPROVED protein-coding ENSG00000111875 HGNC:20995 16459 609189 REVIEWED 1315779 ASCL3 achaete-scute family bHLH transcription factor 3 Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] 11 11 11 p15.3 9078881 9084342 - 8959119 8964580 - 8937572 8943033 - 1580863;6480464 11528127;11784080;15475265;18029348;20211142;21832049 56676 Q9NQ33 AB046450;ABBA01061203;AC026894;AJ400877;AMYH02024299;CH471064;NM_020646 AAI41566;AAI46583;BAB83913;CAB92288;EAW68610;NP_065697;Q9NQ33 Hs.501852 2218260 ASCL3_4381 ASH-3;HASH3;SGN1;bHLHa42 achaete-scute complex homolog 3;achaete-scute homolog 3;bHLH transcription factor Sgn-1 (Salivary Glands 1);bHLH transcriptional regulator Sgn-1;class A basic helix-loop-helix protein 42 APPROVED protein-coding HGNC:740 18523 609154 PROVISIONAL 1316784 ASCL4 achaete-scute family bHLH transcription factor 4 Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] 12 12 12 q23.3 107833712 107835971 + 108168162 108170421 + 107774385 107776644 + 6480464 12477932;12617822;14516699;15475265;19166906;22549224 121549 Q6XD76 ABBA01053147;AC007622;AI290227;AMYH02027147;AY238895;BC128211;BC128212;BK000275;NM_203436 AAI28212;AAI28213;AAP69222;DAA01055;NP_982260;Q6XD76 Hs.149910 2219010;5493333 ASCL4_4382;UniSTS:485742 ASH-4;HASH4;bHLHa44 OTTHUMP00000211168;achaete-scute complex homolog 4;achaete-scute complex-like 4;achaete-scute complex-like 4 (drosophila);achaete-scute homolog 4;achaete-scute-like protein 4;class A basic helix-loop-helix protein 44;class II bHLH protein ASCL4 APPROVED protein-coding ENSG00000187855 HGNC:24311 12374 609155 VALIDATED 1312634 ASF1B anti-silencing function 1B histone chaperone This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14124596 14141712 - 14230321 14247440 - 14119509 14136628 - 6480464;9586017;9068945;8554872 21179005;23288364 11470414;11897662;12477932;12842904;14702039;14718166;15020040;15146197;15664198;16751776;16980972;17054786;17328667;17353931;17940067;18096807;18378699;19913121;20016786;20133788;20227376;20504901;20628086;20651253;20953179;21055984;21113133;21139048;21890473;21906983;21963094;21987572;22407294;22505724;22939629;23075851;23100276;23178455;24209620;24413054;8125298 55723 K7EIL9;K7ELW9;K7EM93;K7ES22;Q9NVP2 AB104486;ABBA01029688;ABBA01029689;AC022098;AF279307;AK001288;AK001466;AK223080;AK302134;AMYH02035606;AMYH02035607;BC007726;BC010014;BC036521;CH471106;CN426445;CR457235;DQ587892;NM_018154 AAH07726;AAH10014;AAH36521;AAK82973;ACT64480;ACT64481;BAA91602;BAA91708;BAC87709;BAD96800;BAG63508;CAG33516;EAW84401;EAW84402;NP_060624;Q9NVP2 Hs.26516 1658265 WI-14108 CIA-II;FLJ10604;hAsf1;hAsf1b;hCIA-II ASF1 anti-silencing function 1 homolog B;CCG1-interacting factor A-II;OTTHUMP00000197277;anti-silencing function protein 1 homolog B;histone chaperone ASF1B APPROVED protein-coding ENSG00000105011 HGNC:20996 16460 609190 REVIEWED 1603722 ASCL5 achaete-scute family bHLH transcription factor 5 ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 q32.1 174207616 174223353 - 201083081 201084500 - 201113953 201115372 - 6480464 647219 M0R2M9;Q7RTU5 ABBA01027535;AI274185;AI791516;AL139159;AMYH02002476;NG_009816;NM_001270601 NP_001257530;Q7RTU5 Hs.143949;Hs.721460 ASH-5;bHLHa47;hASH5 achaete-scute complex homolog 5;achaete-scute complex homolog 5 (Drosophila);achaete-scute homolog 5;class A basic helix-loop-helix protein 47 APPROVED protein-coding ENSG00000232237 HGNC:33169 VALIDATED 1343618 ASGR2 asialoglycoprotein receptor 2 This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 17 17 17 p 7030159 7043834 - 7004641 7018292 - 7101322 7115522 - 1580863;6480464 10859341;11408579;11543633;11943787;12089159;12119473;12167617;12171918;12359251;12477859;12477932;1371982;15489334;15946216;1597447;16335952;18029348;18855599;1924301;19520807;19576873;19663694;20237496;20364278;20703846;21062743;21063834;21103663;21207081;21656538;21917589;21988832;22096539;23604802;2834401;3863106;7843709;7844558;8397210;9349295 433 I3L1H2;P07307;Q7Z4G9 ABBA01054848;ABBA01054849;ABBA01054850;AC120057;AF529374;AK303787;AK310123;AMYH02032886;AMYH02032887;BC017251;BM561839;BX483468;CH471108;DC315727;M11025;NG_029064;NM_001181;NM_001201352;NM_080912;NM_080913;NM_080914;U97197;X55283;X55284;XM_005256645;XM_005256648;XM_006721522;XM_006721523;XM_006721524;XM_006721525;XM_006721526 AAB58308;AAB59519;AAH17251;AAQ09608;ABM83578;ABM86817;BAG64744;CAA38997;EAW90259;EAW90260;EAW90261;EAW90262;EAW90263;EAW90264;NP_001172;NP_001188281;NP_550434;NP_550435;NP_550436;P07307;XP_005256702;XP_005256705;XP_006721585;XP_006721586;XP_006721587;XP_006721588;XP_006721589 Hs.654440 1681762;1771562;2122601 RH80271;STS-T67921;WI-11341 ASGP-R;ASGP-R 2;ASGP-R2;ASGPR 2;ASGPR2;CLEC4H2;FLJ60040;HBXBP;HL-2;Hs.1259;L-H2 C-type lectin domain family 4 member H2;C-type lectin domain family 4, member H2;HBxAg-binding protein;OTTHUMP00000128352;OTTHUMP00000128353;asialoglycoprotein receptor H2;hepatic lectin H2 APPROVED protein-coding ENSG00000161944 HGNC:743 00152 108361 REVIEWED 6769643 ASH1L-AS1 ASH1L antisense RNA 1 1 1 1 q22 128604913 128606876 + 155531772 155533735 + 155561981 155563944 + 12477932 645676 ABBA01016697;ABBA01016698;AK126559;AL353807;AMYH02001949;BC009847;BC017347;BC065229;BC104640;BI916505;BX359981;NR_027023 BAC86594 Hs.568693;Hs.745405 APPROVED ncrna HGNC:44146 VALIDATED 737103 ASGR1 asialoglycoprotein receptor 1 This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 17 17 17 p13.2 7101987 7107556 - 7076750 7082883 - 7173431 7179564 - 1580863;6480464 10734069;10859341;10891274;11543633;11943787;12119473;12167617;12171918;12359251;12370180;12477859;12477932;15489334;15946216;16008586;16341674;16475991;1774077;18624398;18855599;1924301;1935897;19520807;19576873;19663694;19725223;20364278;20703846;20886072;21063834;21103663;21207081;21656538;21832049;21988832;22001757;22219600;22613667;23233672;23383108;23604802;23979840;24933948;2834401;2982798;3753585;7843709;7844558;8439566;9349295 432 I3L129;I3L1F8;I3L2S9;J3QSZ2;K7EPS5;P07306;Q6FGQ5 AB070933;ABBA01054851;ABBA01054852;AC120057;AK124286;AK308375;AK308677;AMYH02032890;BC032130;BM818592;BQ653541;BT019873;CH471108;CR542052;FJ410292;M10058;NM_001197216;NM_001671 AAA51785;AAH32130;AAV38676;ABM82956;ABM86147;ACQ90237;BAB83508;CAG46849;EAW90256;EAW90257;EAW90258;NP_001184145;NP_001662;P07306 Hs.12056;Hs.731669 1676043;2109067;2183824 ASGR1_8213;D17S2010;RH11640 ASGP-R 1;ASGPR;ASGPR 1;ASGPR1;CLEC4H1;HL-1;Hs.12056 C-type lectin domain family 4 member H1;C-type lectin domain family 4, member H1;OTTHUMP00000128354;hepatic asialoglycoprotein receptor 1;hepatic lectin H1 APPROVED protein-coding ENSG00000141505 HGNC:742 00151 108360 REVIEWED 1314918 ASH1L ash1 (absent, small, or homeotic)-like (Drosophila) This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008] 1 1 1 q22 128378194 128605465 - 155305052 155532324 - 155335261 155562825 - 1580863;6480464;6907045;7242632;8554872 23200123 10718198;10860993;15146197;15231748;16344560;16545939;16710414;17203973;17403666;17923682;18029348;19471022;21139048;21239497;21693764;22140534;22541069;22632162;22696682;24019522;24244179;24250222 55870 F8VWK7;H0YI82;Q9NR48 AB037841;AB209068;ABBA01016698;ABBA01016699;ABBA01016700;ABBA01016701;ABBA01016702;ABBA01016703;ABBA01016704;ABBA01016705;ABBA01016706;ABBA01016707;ABBA01016708;AF257305;AI912552;AK304873;AK307595;AL139410;AL353807;AMYH02001944;AMYH02001945;AMYH02001946;AMYH02001947;AMYH02001948;AMYH02001949;BQ883186;CH471121;CN365042;DA236222;NM_018489;XM_005245336;XM_005245337;XM_006711450;XM_006711451;XM_006711452 AAF68983;AAI72595;BAA92658;BAD92305;BAG65610;EAW53068;NP_060959;Q9NR48;XP_005245393;XP_005245394;XP_006711513;XP_006711514;XP_006711515 Hs.491060 1339295;1643984;1668327;1681020;1692258;1692352;1748885;1749649;1781416;1781418;1851266;2113676;2135570;2140355;2182121;5096755 AB063083;AL009474;AL033792;AL034034;ASH1L_2279;D1S2777;RH16337;RH45194;RH69490;RH93684;SHGC-110554;SHGC-111331;SHGC-111438;SHGC-111439;SHGC-35091;WI-15725 ASH1;ASH1L1;FLJ10504;KIAA1420;KMT2H ASH1-like protein;OTTHUMP00000015897;OTTHUMP00000015898;absent small and homeotic disks protein 1 homolog;histone-lysine N-methyltransferase ASH1L;lysine N-methyltransferase 2H;probable histone-lysine N-methyltransferase ASH1L APPROVED protein-coding ENSG00000116539 HGNC:19088 06416 607999 REVIEWED 1343075 ASH2LP1 ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1 22 22 22 q11.22 6582634 6584044 + 22774714 22776124 + 22420377 22421787 + 9074928 266703 ABBA01055084;AC245291;D87009;D87010;NG_000002 pseudo HGNC:19332 VALIDATED 737359 ASIC2 acid-sensing (proton-gated) ion channel 2 This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012] 17 17 17 q12 28251041 29395277 - 31340105 32483825 - 33013087 34156806 - 1298644;1300338;1580863;1300241;6480464;8554872 625485;734884;8921408 10842183;11739374;11802773;12477932;15471860;15489334;15504740;16704974;17376794;17534430;17548344;17553932;19091960;19812697;20201926;20306292;20379614;20677014;21378988;21810271;21811305;21961650;22157923;22493691;23251661;24324551;24529757;24847067;8626462;8631835;9037075;9360943 40 Q16515 ABBA01000736;ABBA01000737;ABBA01011210;AC003687;AC004147;AC008133;AC011824;AC015751;AC024610;AC024614;AC025898;AC027233;AC078907;AC123769;AK127748;AK313043;AL834182;AMYH02033328;AMYH02033329;AMYH02033330;AMYH02033331;AMYH02033332;AMYH02033333;AMYH02033334;AMYH02033335;AMYH02033336;BC075042;BC075043;CH471147;KF456268;KF510422;NG_029763;NM_001094;NM_183377;U50352;U53212;U57352 AAB49182;AAC50432;AAC50498;AAH75042;AAH75043;ABZ92042;BAG35875;BAG54565;CAD38879;EAW80216;NP_001085;NP_899233;Q16515 Hs.368417 1337065;1342106;1649703;1677927;1680894;1680918;1682221;1689061;1707052;1710822;1711936;1717693;1718963;1726253;1726269;1726429;1752483;1761797;1762195;1763721;1779686;1780142;1783538;1783552;1783572;1783594;1787810;1847635;1850245;1856366;2108573;2114106;2116200;2116984;2126577;2129455;2143611;2179531;2181217;2183327;2187825;2187827;2187829;2187831;2187833;2187839;2187841;2187843;2187845;5093708 AB056819;D17S1316;D17S1540;D17S1656;D17S1694;D17S1850;D17S2139;D17S2194;FB6F10;G09780;G09898;G28628;G32877;G42370;G49579;G62513;G62594;G72117;G72118;G72119;G72120;G72121;G72122;G72123;G72124;G72125;RH122277;RH123189;RH28431;RH48684;RH66290;RH67569;RH76641;RH92493;RH93845;SHGC-106373;SHGC-145757;SHGC-146075;SHGC-147393;SHGC-153663;SHGC-153682;SHGC-154441;SHGC-154446;SHGC-155068;SHGC-156229;SHGC-173267;SHGC-81279;SHGC-84158;STS-AA019851;TLK2_8170 ACCN;ACCN1;ASIC2a;BNC1;BNaC1;MDEG;hBNaC1 OTTHUMP00000163794;acid-sensing ion channel 2;amiloride-sensitive brain sodium channel;amiloride-sensitive cation channel 1;amiloride-sensitive cation channel 1, neuronal;amiloride-sensitive cation channel neuronal 1;brain sodium channel 1;degenerin;mammalian degenerin homolog;neuronal amiloride-sensitive cation channel 1 APPROVED protein-coding ENSG00000108684 HGNC:99 03471 601784 REVIEWED 731360 ASIC1 acid-sensing (proton-gated) ion channel 1 This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] 12 12 12 q12 49246955 49272856 + 50451420 50477405 + 50057637 50083622 + 1298544;1300339;1580863;1300242;6480464 704418;734886;9037075 10362604;10798398;11448963;11512022;11739374;11748227;11802773;11988176;12244121;12393854;12477932;12578970;14988500;15247234;15471860;15489334;15574747;15576453;15738111;15952105;17324378;17392378;17443677;17548344;17984098;18349698;18514062;18662336;19185346;19561078;19654327;19812697;20048170;20215117;20216553;20299463;20306292;20371317;20601429;21036899;21176140;21346156;21664108;22157923;23048040;23224900;23977127;23991103;24100685;24847067;8685718;8889548;9062189;9360943 41 A8K1U5;F8VSK4;H0YHD6;H7C1W9;P78348 ABBA01031553;ABBA01031554;AC025154;AK290010;AK293960;AK311047;AMYH02026453;AW451342;BC013891;BC028722;BC133707;BM981170;CH471111;DR003232;EU078959;HM991481;NM_001095;NM_001256830;NM_020039;NR_046389;U78180;U78181;XM_006719397 AAB48980;AAB48981;AAH13891;AAI33708;ABU48925;ADP44689;BAF82699;BAG57332;EAW58116;EAW58117;EAW58118;EAW58119;NP_001086;NP_001243759;NP_064423;P78348;XP_006719460 Hs.274361 1666176;2106945;2175612 ACCN2_7741;RH70705;WI-22480 ACCN2;ASIC;ASIC1A;BNaC2;hBNaC2 ACCN2 variant 3;Cation channel, amiloride-sensitive, neuronal, 2;OTTHUMP00000242165;OTTHUMP00000242166;OTTHUMP00000242773;OTTHUMP00000242774;acid-sensing ion channel 1;acid-sensing ion channel 1a protein;amiloride-sensitive cation channel 2, neuronal;brain sodium channel 2 APPROVED protein-coding ENSG00000110881 HGNC:100 04182 602866 REVIEWED 1313775 ASH2L ash2 (absent, small, or homeotic)-like (Drosophila) ENCODES a protein that exhibits histone methyltransferase activity (H3-K4 specific); transcription regulatory region DNA binding; INVOLVED IN cellular response to DNA damage stimulus; histone H3-K4 methylation; positive regulation of cell proliferation; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Schizophrenia (ortholog); FOUND IN histone methyltransferase complex; nucleus; Set1C/COMPASS complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; carbamazepine; copper(2+) sulfate 8 8 8 p11.2 36915527 36949763 + 37962483 37997598 + 38104965 38140080 + 1580863;6480464;9586022;9479053 22663077;23932495 10393421;11466562;12477932;12482968;12670868;14992727;15199122;15231748;15489334;15761153;15960974;16159877;16169070;16189514;16253997;16344560;16510874;16510875;16603732;16713563;16892064;17050672;17355966;17500065;17612494;17761849;17825402;17846119;17925232;17998332;18026121;18066051;18082152;18245475;18680430;18838538;19047629;19131338;19136632;19187761;19433449;19556245;19660582;19896696;20064463;20085832;20093773;20150277;20208542;20211142;20305087;20516061;20937768;21124902;21139048;21220120;21285357;21382349;21445285;21502505;21531708;21642971;21653943;21660059;21884981;21890473;21988832;22231628;22267201;22665483;22939629;22990118;23307926;23453805;24235145;24368734;24491801;24680668;24816145;24930734 9070 B4DPT1;E5RFH5;E5RHM1;F5H8F7;H0YAQ0;H0YBF6;Q9UBL3 AB020982;AB022785;ABBA01023551;AC084024;AF056717;AF056718;AK291750;AK291938;AK293699;AK298483;AK311336;AMYH02017824;AMYH02017825;AP006545;AW962440;BC015936;CA417078;CH471080;DA156139;DC326351;DC353644;DC396707;NM_001105214;NM_001261832;NM_001282272;NM_004674;XM_005273682;XM_005273683;XM_006716412;XM_006716413 AAC13563;AAC13564;AAH15936;BAA35127;BAA74520;BAF84439;BAF84627;BAG57134;BAG60693;EAW63336;EAW63337;EAW63338;EAW63339;EAW63340;NP_001098684;NP_001248761;NP_001269201;NP_004665;Q9UBL3;XP_005273739;XP_005273740;XP_006716475;XP_006716476 Hs.521530 1649254;1701332;1774274;2131659;2134286;2217038;5095046 ASH2L;ASH2L_3207;D6S1405;NIB1979;RH104296;RH35988;SHGC-58272 ASH2;ASH2L1;ASH2L2;Bre2 ASH2-like protein;OTTHUMP00000225574;OTTHUMP00000225578;OTTHUMP00000225579;set1/Ash2 histone methyltransferase complex subunit ASH2 protein-coding ENSG00000129691 HGNC:744 05309 604782 VALIDATED 1353665 ASIC3 acid-sensing (proton-gated) ion channel 3 This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] 7 7 7 q35 145302914 145307152 + 150745379 150749843 + 151048292 151052756 + 1580863;6480464 10842183;11587714;11842212;11872753;12060708;12477932;12578970;12690205;15317815;15471860;15574747;17012229;18854755;19812697;19885742;20416288;20693874;21092862;21586569;22157923;22702502;22778854;22809504;22829666;22842475;22854960;23801332;24206072;9571199;9744806;9886053 9311 H7C4W0;H7C5N6;Q9UHC3 A82593;A82597;A82786;AACC02000108;AB010575;AB209421;ABBA01035167;AC010973;AF057711;AF095897;AF195024;AF195025;AI580095;AK128129;AK313926;AMYH02017067;BC030282;CH471173;NM_004769;NM_020321;NM_020322;NR_046401 AAC62935;AAC64188;AAF19817;AAF19818;AAI56797;BAA25897;BAD92658;BAG36647;CAB69243;CAB69244;CAB69252;EAL24495;EAL24496;EAL24497;EAW54052;EAW54053;EAW54054;EAW54055;NP_004760;NP_064717;NP_064718;Q9UHC3 Hs.647113 5113208 RH92393 ACCN3;SLNAC1;TNaC1;hASIC3;hTNaC1 DRASIC;OTTHUMP00000213253;OTTHUMP00000213254;OTTHUMP00000213255;OTTHUMP00000213256;OTTHUMP00000213257;acid-sensing ion channel 3;amiloride-sensitive cation channel 3;amiloride-sensitive cation channel 3, testis;modulatory subunit of ASIC2a;neuronal amiloride-sensitive cation channel 3;proton-gated cation channel subunit;testis sodium channel 1 APPROVED protein-coding ENSG00000213199 HGNC:101 10626 611741 REVIEWED 69199 ASIP agouti signaling protein In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008] 20 20 20 q11.2-q12 29597653 29606630 + 32829188 32857150 + 34241382 34269344 + 1625724;1580863;2313999;2314006;1357925;6480464;6484113;8554872 10426381;14633851;15189116;7987393 11447115;11780052;11833005;12055320;12477932;12519127;15016309;15489334;15701517;15726415;15998953;16091846;16704456;17525122;17952075;18488027;18488028;18563784;18637131;19382693;19384953;19710684;19913121;20585627;20628086;20831872;21221757;21983787;22447455;22628150;22976474;23548203;7757071;7937887;9058374;9761782 434 P42127 ABBA01019206;AL035458;AMYH02036970;AY805393;BC104238;BC104239;CH471077;L37019;NG_011439;NM_001672;U12775;XM_005260412 AAA89208;AAB61247;AAI04239;AAI04240;EAW76282;NP_001663;P42127;XP_005260469 Hs.659995 1658163;2145834;2161839 BCD1491;SHGC-36988;Z94291 AGSW;AGTI;ASP;MGC126092;MGC126093;SHEP9 AGTIL;OTTHUMP00000030681;agouti;agouti (mouse)-signaling protein;agouti signaling protein, nonagouti homolog;agouti switch protein;agouti-signaling protein;nonagouti homolog 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;1643376;1643383;1643385;1643396;2289429;2289431;2316052 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H;BW305_H;BW306_H;BW311_H;BW312_H;GLUCO208_H APPROVED protein-coding ENSG00000101440 HGNC:745 02562 600201;611742 REVIEWED 736018 ASIC5 acid-sensing (proton-gated) ion channel family member 5 This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008] 4 4 4 q32.1 154082485 154119021 - 156750881 156787425 - 155829729 155866273 - 1580863;6480464;8554872 10767424;23842738 51802 Q9NY37 ABBA01070177;AC093830;AC125334;AJ252011;AMYH02010344;CH471056;NM_017419 AAI40357;AAI46498;CAB85607;EAX04887;NP_059115;Q9NY37 Hs.381349 1772236;2126980;2138515 D4S1370;D4S829;G34226 ACCN5;INAC HINAC;OTTHUMP00000220876;acid-sensing ion channel 5;amiloride-sensitive cation channel 5;amiloride-sensitive cation channel 5, intestinal;amiloride-sensitive sodium channel;human intestine Na(+) channel APPROVED protein-coding ENSG00000256394 HGNC:17537 16470 REVIEWED 1352939 ASLP1 argininosuccinate lyase pseudogene 1 22 22 22 q11.23 7830243 7834634 - 23991155 23995546 - 23648968 23653359 - 436 ABBA01055117;AMYH02038131;AP000346;NG_002637 2148536;2157866 RH46913;WI-22687 ASLL APPROVED pseudo HGNC:747 INFERRED 1604616 ASIC4 acid-sensing (proton-gated) ion channel family member 4 This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012] 2 2 2 q35 214148884 214173457 + 220378892 220403494 + 219514170 219538772 + 6480464 10852210;11571555;12477932;15489334;15815621;17207965;18662336;9847074 55515 Q96FT7 ABBA01023840;AC009955;AC053503;AC139723;AJ271643;AJ408881;AK308804;AK309373;AMYH02005823;BC010439;BC031812;BC073912;CH471063;EL736952;NM_182847;XM_005246671 AAH10439;AAH31812;AAY15054;ABM83030;CAB93980;CAC51338;EAW70760;EAW70761;EAW70762;EAW70763;NP_878267;Q96FT7;XP_005246728 Hs.87469 1708950;1799166;1799334;1800130;1802098;1803098;1803860;1808420;1808928;1810900;1812700;1816888;1819886;1821900;1824854;1826130;1826388;1826842;1827776;1828036;1828358;1828846;1829926;1830974;1834522;1837280;1841592;1842306;1842694;1842836;1843076;1964564;1964566;1964568;1964570;1964572;1964574;1964576;1964578;1964580;1964582;1964584;1964586;1964588;1964590;1964592;1964594;1964596;1964598;1964600;1964602;1964604;1964606;1964608;1964610;1964612;1964614;1964616;1964618;1964620;1964622;1964624;1964626;1964628;1964630;1964632;1964634;1964636;1964638;1964640;1964642;1964644;1964646;1964648;1964650;1964652;1964654;1964656;1964658;1964660;1964662;1964664;1964666;1964668;1964670;1964672;1964674;1964676;1964678;1964680;1964682;1964684;1964686;1964688;1964690;1964692;1964694;1964696;1964698;1964700;1964702;1964704;1964706;1964708;1964710;1964712;1964714;1964716;1964718;1964720;1964722;1964724;1964726;1964728;1964730;1964732;1964734;1964736;1964738;1964740;1964742;1964744;1964746;1964748;1964750;1964752;1964754;1964756;1964758;1964760;1964762;1964764;1964766;1964768;1964770;1964772;1964774;1964776;1964778;1964780;1964782;1964784;1964786;1964788;1964790;1964792;1964794;1964796;2108687;2214004;2214006;2214008;2214010;2214012;2214014;2214016;2214018;2214020;2214022;2214024;2214026;2214028;2214030;2214032;2214034;2214036;2214038;2214040;2214042 ACCN4_8063;ECD00429;ECD00516;ECD00921;ECD01931;ECD02440;ECD02842;ECD05191;ECD05447;ECD06448;ECD07361;ECD09490;ECD11013;ECD12036;ECD13526;ECD14175;ECD14308;ECD14536;ECD15010;ECD15141;ECD15304;ECD15550;ECD16096;ECD16623;ECD18409;ECD19807;ECD21993;ECD22356;ECD22554;ECD22625;ECD22746;REN53156;REN53157;REN53158;REN53159;REN53160;REN53161;REN53162;REN53163;REN53164;REN53165;REN53166;REN53167;REN53168;REN53169;REN53170;REN53171;REN53172;REN53173;REN53174;REN53175;REN53176;REN53177;REN53178;REN53179;REN53180;REN53181;REN53182;REN53183;REN53184;REN53185;REN53186;REN53187;REN53188;REN53189;REN53190;REN53191;REN53192;REN53193;REN53194;REN53195;REN53196;REN53197;REN53198;REN53199;REN53200;REN53201;REN53202;REN53203;REN53204;REN53205;REN53206;REN53207;REN53208;REN53209;REN53210;REN53211;REN53212;REN53213;REN53214;REN53215;REN53216;REN53217;REN53218;REN53219;REN53220;REN53221;REN53222;REN53223;REN53224;REN53225;REN53226;REN53227;REN53228;REN53229;REN53230;REN53231;REN53232;REN53233;REN53234;REN53235;REN53236;REN53237;REN53238;REN53239;REN53240;REN53241;REN53242;REN53243;REN53244;REN53245;REN53246;REN53247;REN53248;REN53249;REN53250;REN53251;REN53252;REN53253;REN53254;REN53255;REN53256;REN53257;REN53258;REN53259;REN53260;REN53261;REN53262;REN53263;REN53264;REN53265;REN53266;REN53267;REN53268;REN53269;REN53270;REN53271;REN53272;SHGC-79532;stSG633053;stSG633054;stSG633055;stSG633056;stSG633057;stSG633058;stSG633059;stSG633062;stSG633063;stSG633064;stSG633065;stSG633066;stSG633067;stSG633068;stSG633069;stSG633070;stSG633071;stSG633072;stSG633073;stSG633074 ACCN4;BNAC4;MGC17248;MGC24860 OTTHUMP00000064871;OTTHUMP00000064872;acid-sensing ion channel 4;amiloride-sensitive cation channel 4;amiloride-sensitive cation channel 4, pituitary;amiloride-sensitive cation channel family member 4, pituitary;brain sodium channel 4 APPROVED protein-coding ENSG00000072182 HGNC:21263 16231 606715 REVIEWED 731559 ASL argininosuccinate lyase This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 7 7 7 q11.21 66555388 66572941 - 65540776 65558330 + 66075789 66093343 + 1599263;1302509;1599265;734610;1599267;1580863;1300048;2314010;2300098;70249;4142785;4110824;6480464;6907045;7240710;8554872;8699517 10353334;10652239;11779202;12408190;16121806;17198704;20567615;20805789;2263616;4062872 11747432;11747433;12384776;12477932;12512996;15489334;16189514;1705937;17326097;19056867;19703900;20301396;2045097;20739017;20937351;21290785;21667091;21906983;21988832;22531684;22863883;23824909;24136197;24166829;24927999;2644168;282632;3368457;3391281;3463959;6784763;9256435 435 F8W943;P04424 ABBA01049004;AC068533;AF376770;AI469765;AK300519;AK310912;AK316334;AMYH02015896;AY203938;BC008195;BC033146;BQ949510;BU634268;BX328836;CH236961;CH471140;J03058;M14218;M21007;M57638;NG_009288;NM_000048;NM_001024943;NM_001024944;NM_001024946;Y00753 AAA35566;AAA51786;AAA51787;AAA51788;AAH08195;AAH33146;AAL57276;AAP34461;BAG62231;BAH14705;CAA68722;EAX07944;EAX07945;EAX07946;NP_000039;NP_001020114;NP_001020115;NP_001020117;P04424 Hs.632015 1786256;2147529;2148536;2157866;5016478;5124479 ASL;GDB:434012;RH46913;RH79831;SHGC-144290;WI-22687 ASAL OTTHUMP00000159903;OTTHUMP00000210324;OTTHUMP00000210325;OTTHUMP00000210326;OTTHUMP00000210327;argininosuccinase;arginosuccinase APPROVED protein-coding ENSG00000126522 HGNC:746 01948 207900;608310 REVIEWED 1350953 ASMD anterior segment mesenchymal dysgenesis ASSOCIATED WITH Anterior segment mesenchymal dysgenesis (inferred); Aphakia, congenital primary (inferred) 7240710 437 HGNC:749 107250;610256 1315744 ASMTL acetylserotonin O-methyltransferase-like The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X X;Y X;Y p22.3; Yp11.3 1732 11858 + 1472032 1522687 - 1403139 1453794 - 1580863;6480464 12477932;14702039;15489334;16189514;16344560;17081983;18029348;19850743;21832049;21890473;21906983;21963094;21988832;22863883;24654937;24722188;8125298;8889548;9736779 8623 B3KM43;O95671 ABBA01055724;ABBA01055725;ABBA01055726;AK001090;AK090498;AK225770;AK297805;AK299231;AK301844;AL683870;AMYH02038682;AMYH02038683;AMYH02038684;BC002508;BC010089;BM021926;BM129217;BU688748;CH471074;DA005122;DA301876;DA904467;NG_016772;NM_001173473;NM_001173474;NM_004192;XM_005274434;XM_005274783;Y15521 AAH02508;AAH10089;ADZ15744;BAC03468;BAG50855;BAG60143;BAG61263;BAG63287;CAA75675;CAA75676;EAW98682;NP_001166944;NP_001166945;NP_004183;O95671;XP_005274491;XP_005274840 Hs.533514 1676550;2119248 RH66350;STS-F04211 ASMTLX;ASTML ASMTLY;N-acetylserotonin O-methyltransferase-like protein;OTTHUMP00000022824;OTTHUMP00000022825;acetylserotonin N-methyltransferase-like APPROVED protein-coding ENSG00000169093 HGNC:751 02156 300162;400011 REVIEWED 1317371 ASNA1 arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011] 19 19 19 q13.3 12738017 12748848 + 12848306 12859137 + 12737492 12748323 + 1580863;6480464 10696239;12477932;15489334;17289575;17382883;18667436;19056867;19615732;19724867;20375064;20435896;20516149;20676083;21078624;21139048;21296983;21444755;21878631;21900206;21906983;21963094;22505607;22863883;23041287;23166591;23246001;23460677;24885147;25036637;8125298;8884272;9712828;9736449 439 K7ERW9;O43681 ABBA01029774;ABBA01029775;ABBA01029776;ABBA01029777;AC018761;AF047469;AK223363;AK291855;AK293588;AMYH02035555;AMYH02035556;AY304483;BC002651;BG426136;CH471106;NM_004317;U60276 AAC03551;AAC50731;AAH02651;AAP45050;ADZ15365;BAD97083;BAF84544;BAG57056;EAW84303;NP_004308;O43681 Hs.465985 1773667;1788482;1788484;2107861;2128167 ASNA1_8216;G67558;G67559;RH70684;STS-H08525 ARSA-I;ARSA1;ASNA-I;GET3;MGC3821;TRC40;hARSA-I;hASNA-I ASNA1 {ECO:0000255|HAMAP-Rule:MF_03112};ATPase ASNA1;ATPase ASNA1 {ECO:0000255|HAMAP-Rule:MF_03112};arsenical pump-driving ATPase;arsenical pump-driving ATPase {ECO:0000255|HAMAP-Rule:MF_03112};arsenite-stimulated ATPase;arsenite-stimulated ATPase {ECO:0000255|HAMAP-Rule:MF_03112};golgi to ER traffic 3 homolog;transmembrane domain recognition complex 40 kDa ATPase subunit;transmembrane domain recognition complex, 40kDa APPROVED protein-coding ENSG00000198356 HGNC:752 03555 601913 VALIDATED 1353638 ASMT acetylserotonin O-methyltransferase This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2010] X X;Y X;Y p22.3 or Yp11.3 5992483 6035986 + 1714348 1761974 + 1595455 1643081 + 1580863;6480464;6907045 11339514;12477932;12734775;15489334;15772651;17505466;17957233;1878930;20377855;20418777;20433639;20442744;21251267;21437622;21615493;21778461;22694957;22775292;23349736;23995775;24722188;7989373;8098975;8397829 438 I7HFW6;P46597;X5D784 ABBA01055709;ABBA01055710;ABBA01055711;ABBA01055712;ABBA01055713;AK314922;AL683807;AMYH02038692;AMYH02038693;BC001620;CH471074;KJ534774;KJ534775;KJ534776;KJ535045;M83779;NG_016337;NM_001171038;NM_001171039;NM_004043;U11090;U11091;U11098 AAA17020;AAA58582;AAA58583;AAA75289;AAA75290;AAA75291;AAH01620;AHW56414;AHW56415;AHW56416;AHW56684;BAG37430;EAW98685;EAW98686;NP_001164509;NP_001164510;NP_004034;P46597 Hs.522572 1683403;1748463;1848069;1852802;2177147;5017879 CXYorf3;DXYS155E;RH69211;RH71197;SHGC-5417;SHGC-64829 ASMTY;HIOMT;HIOMTY;OTTHUMP00000022834;OTTHUMP00000022835;OTTHUMP00000022836;acetylserotonin N-methyltransferase;acetylserotonin methyltransferase (Y chromosome);hydroxyindole O-methyltransferase APPROVED protein-coding ENSG00000196433 HGNC:750 02058 300015;402500 REVIEWED 1345758 ASMTL-AS1 ASMTL antisense RNA 1 This gene serves as the antisense to the acetylserotonin O-methyltransferase-like gene. Multiple non-coding transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] X;Y X;Y p22.33; Yp11.32 1469424 1484314 + 1400531 1415421 + 12477932;14702039 80161 ABBA01055726;AF193043;AK023392;AL683870;AMYH02038682;AMYH02038683;BC093994;CH471074;NG_030331;NR_026710;NR_026711 AAG22471;BAB14557;EAW98681 Hs.521856 1676550;2119248 RH66350;STS-F04211 ASMTL-AS;CXYorf2;FLJ13330;NCRNA00105 ASMTLAS APPROVED ncrna HGNC:25811 06522 VALIDATED 1343754 ASNS asparagine synthetase (glutamine-hydrolyzing) The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] 7 7 7 q21.3 92176132 92196562 - 97481429 97501854 - 97852117 97872542 - 1580863;2316006;6480464;6907045;8699517;7240710;8554872 10081 10085239;11867623;11960987;12097650;12351626;12477932;12690205;12853948;12949534;15385533;15489334;15674423;16023613;16169070;16196087;16344560;16598302;17088436;17276738;17380207;17409444;18840095;18852115;18940792;19035175;19054556;19414379;19738201;20561401;20562859;20639865;21139048;21145461;21319273;21505976;21890473;21906983;21963094;22586326;22623428;22863883;22939629;22978410;23000965;23275563;23403946;23764751;23956056;24139043;24268318;24398846;24729124;2564390;2565875;2569668;2573597;2714790;2886907;3470743;6137879;7904551;8093451;9847074 440 C9J057;C9J605;C9JLA3;C9JLN6;C9JM09;C9JT45;F8WEJ5;P08243 AA948141;ABBA01045743;ABBA01045744;AC005326;AC079781;AK000379;AK302189;AK302242;AK316224;AMYH02016318;BC008723;BC014621;BG718826;BT007113;BX104871;CH236949;CH471091;DA160359;DA661624;DA961373;DB483248;DC297828;L35946;M15798;M27054;M27396;NG_033870;NM_001178075;NM_001178076;NM_001178077;NM_001673;NM_133436;NM_183356 AAA36781;AAA51789;AAA52756;AAA63266;AAH08723;AAH14621;AAP35777;AAQ96856;ABM83944;ABM87262;BAG63553;BAG63594;BAH14595;EAL24115;EAW76723;EAW76730;EAW76731;EAW76732;EAW76733;NP_001171546;NP_001171547;NP_001171548;NP_001664;NP_597680;NP_899199;P08243 Hs.489207 1687708;2109069;2126743;5115132 ASNS;ASNS_8217;RH79681;WI-20023 ASNSD;TS11 OTTHUMP00000024510;OTTHUMP00000204938;OTTHUMP00000204939;OTTHUMP00000204940;OTTHUMP00000204941;OTTHUMP00000204942;TS11 cell cycle control protein;asparagine synthetase;asparagine synthetase [glutamine-hydrolyzing];glutamine-dependent asparagine synthetase APPROVED protein-coding ENSG00000070669 HGNC:753 00153 108370;615574 REVIEWED 1603641 ASNSD1 asparagine synthetase domain containing 1 ENCODES a protein that exhibits asparagine synthase (glutamine-hydrolyzing) activity (inferred); INVOLVED IN asparagine biosynthetic process (inferred); glutamine metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; calcitriol 2 2 2 p24.3-q21.3 184121046 184130465 + 190526125 190535557 + 189661399 189670831 + 6480464;8554872 12477932;16344560;16534843;21906983;22797925;24250222 54529 C9IYZ1;C9J6C1;L0R819;Q9NWL6;U3KQ49;U3KQE3;U3KQK8;U3KQP1;U3KQP6 AB075481;ABBA01062379;AC012488;AK000759;AMYH02005428;AY116969;BC001243;CH471058;DA771653;NM_019048;XM_005246653 AAH01243;AAM77212;AAX88843;BAA91364;BAE45745;EAX10898;EAX10899;EAX10900;NP_061921;Q9NWL6;XP_005246710 Hs.101364 1718133;1734876;1734896;1775792;1854261;1858179;2109577;2171663 A002V47;D2S1634E;D2S1669E;NS3TP1_9795;RH122834;RH17929;RH18336;RH48880 FLJ20752;NBLA00058;NS3TP1 HCV NS3-transactivated protein 1;OTTHUMP00000163500;OTTHUMP00000205600;asparagine synthetase domain-containing protein 1 protein-coding ENSG00000138381 HGNC:24910 17645 VALIDATED 1352956 ASNSP2 asparagine synthetase pseudogene 2 21 21 p11.2 9742188 9742343 + 8853355 8853510 + 10830953 442 AMYH02037502;CR381670;NG_029775 ASNSL2 APPROVED pseudo HGNC:755 INFERRED 4889736 ASNSP3 asparagine synthetase pseudogene 3 13 13 13 q32 81559083 81560403 - 100714551 100715871 - 100062297 100063617 - 100423061 ABBA01027094;AL355338;AMYH02028604;NG_021205 pseudo HGNC:39399 INFERRED 8549003 ASNSP6 asparagine synthetase (glutamine-hydrolyzing) pseudogene 6 18 18 18 p11.2 11625009 11626861 + 11745668 11747520 + 11745669 11747521 + 100423060 ABBA01073999;AMYH02034316;AP001120;NG_021204;NG_033866 pseudo HGNC:49876 INFERRED 1350952 ASPA aspartoacylase This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3391129 3416414 + 3377404 3402700 + 3474110 3499406 + 1599291;1599298;1601247;1580863;6480464;6907045;7240710;8554872;8699517 15857674;16707098;8252036 10564886;10837925;10909858;12205125;12477932;12638939;12706335;14699612;15489334;16189514;16437572;16669630;16935940;17027983;17194761;17391648;18029348;18264947;18293939;20201926;20301412;22019069;22219087;22468686;22750302;22878930;23049088;24501781;24632142;25003821;27051;3116332;7599639;7668285;8023850;8088831;8659549;9407392 443 I3L0T3;I3L4M0;P45381;Q6FH48 ABBA01054737;ABBA01054738;AC025125;AK312901;AMYH02032800;BC010941;BC029128;CH471108;CR541908;NG_008399;NM_000049;NM_001128085;S67156;S74727;XM_005256649;XM_006721527 AAB29190;AAD14981;AAH29128;ABM83005;ABM86198;BAG35747;CAG46706;EAW90506;EAW90507;NP_000040;NP_001121557;P45381;XP_005256706;XP_006721590 Hs.171142 1652794;1663106;1718779;1743907;2127401 D17S2054;GDB:375371;RH123093;RH17906;STS-H83906 ACY-2;ACY2;ASP Canavan disease;OTTHUMP00000115814;aminoacylase 2;aminoacylase-2;aspartoacylase (Canavan disease);aspartoacylase (aminoacylase 2, canavan disease) APPROVED protein-coding HGNC:756 02033 271900;608034 REVIEWED 1346746 ASNSP1 asparagine synthetase pseudogene 1 8 8 8 q11.1 43489381 43510469 - 47490828 47529361 - 46579206 46617739 - 389652 ABBA01018436;AC093368;AC104576;AMYH02017930;NG_007178 2066270;2170641 D8S1585;REN104321 ASNSL1 APPROVED pseudo HGNC:754 INFERRED 6481559 ASNSP5 asparagine synthetase pseudogene 5 1 1 142799587 142799739 + 18565 18717 + 100873794 AMYH02001841;BX572084;NG_032287 pseudo HGNC:39401 INFERRED 4889697 ASNSP4 asparagine synthetase pseudogene 4 8 8 8 43593546 43594601 + 47609252 47610307 + 46697630 46698685 + 100419423 ABBA01018437;AC104576;AMYH02017930;NG_026098 pseudo HGNC:39400 INFERRED 1605752 ASPDH aspartate dehydrogenase domain containing ENCODES a protein that exhibits aspartate dehydrogenase activity (inferred); NADP binding (inferred); oxidoreductase activity (inferred); INVOLVED IN NAD biosynthetic process (inferred); NADP catabolic process (inferred); oxidation-reduction process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 19 19 19 q13.33 48066159 48069272 - 51014857 51018689 - 50511600 50515432 - 6480464;8554872 12477932;17207965;8889548 554235 A6ND91;M0QYD4;M0QZ80 ABBA01068319;AC008743;AMYH02036356;BC066359;BM695973;BM924033;BU729215;CH471135;NM_001024656;NM_001114598;XM_005259045;XM_005259046;XM_006723260;XM_006723261;XM_006723262;XM_006723263;XM_006723264 A6ND91;AAH66359;ADQ32053;EAW71878;EAW71879;EAW71880;EAW71881;EAW71882;EAW71883;NP_001019827;NP_001108070;XP_005259102;XP_005259103;XP_006723323;XP_006723324;XP_006723325;XP_006723326;XP_006723327 Hs.436338 aspartate dehydrogenase domain-containing protein;putative L-aspartate dehydrogenase protein-coding ENSG00000204653 HGNC:33856 18692 VALIDATED 1605839 ASPHD1 aspartate beta-hydroxylase domain containing 1 ENCODES a protein that exhibits dioxygenase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); peptidyl-amino acid modification (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 16 16 16 p11.2 72879828 72885036 - 29912147 29931181 + 29900826 29919864 + 6480464 12477932;15489334;8619474;9110174 253982 I3L2A5;I3L2Y2;Q5U4P2 ABBA01013111;ABBA01013112;ABBA01013113;ABBA01013114;ABBA01013115;ABBA01013116;AC120114;AC244166;AF070642;BC009033;BC029136;BC034275;BC040933;BC085011;BC126319;BC126321;BC144152;BU193236;CH471238;KF459558;NM_181718;XR_243272;XR_429675 AAH09033;AAH29136;AAH34275;AAH40933;AAH85011;AAI26320;AAI26322;AAI44153;ADR83156;EAW79971;EAW79972;NP_859069;Q5U4P2 Hs.655761 1676912;1679027;1682726;1730407;1772619;2151310;2181778 D16S3185;D16S425E;RH11802;RH64895;RH78940;SHGC-60606;UniSTS:67512 OTTHUMP00000163001;aspartate beta-hydroxylase domain-containing protein 1 protein-coding ENSG00000174939 HGNC:27380 14139 VALIDATED 1344860 ASPG asparaginase ENCODES a protein that exhibits 1-alkyl-2-acetylglycerophosphocholine esterase activity (inferred); asparaginase activity (inferred); lysophospholipase activity (inferred); INVOLVED IN asparagine metabolic process (inferred); cellular amino acid metabolic process (inferred); lipid catabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q32.33 84606252 84633128 + 104552019 104579100 + 104085682 104112761 + 6480464;8554872 12477932;21063096;22861376;24657844;24768817 374569 G3V1Y8;H0YHD3;H0YHG5;Q86U10 ABBA01048391;AL136001;AMYH02029941;AW024833;AX781433;AX781435;BC035836;BC136637;BM544197;BX247999;BX280385;BX407951;CH471061;NM_001080464;XM_005267590;XM_006720127;XM_006720128;XM_006720129;XM_006720130;XM_006720131;XM_006720132;XM_006720133;XM_006720134;XM_006720135;XM_006720136;XM_006720137;XR_429314 AAH35836;AAI36638;CAD62331;CAE11776;CAE11778;EAW81857;EAW81859;NP_001073933;Q86U10;XP_005267647;XP_006720190;XP_006720191;XP_006720192;XP_006720193;XP_006720194;XP_006720195;XP_006720196;XP_006720197;XP_006720198;XP_006720199;XP_006720200 Hs.146239 C14orf76;GPA/WT 60 kDa lysophospholipase;60-kDa-lysophospholipase;OTTHUMP00000242688;OTTHUMP00000242691;asparaginase homolog;wild-type L-asparaginase APPROVED protein-coding ENSG00000166183 HGNC:20123 VALIDATED 1316111 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] 1 1 1 q31 170178726 170241291 - 197053257 197115824 - 197084127 197146694 - 1599300;1580863;6480464;7240710;8554872;8699517 16141009 11078481;11283617;12355089;12477932;12571366;14574646;14702039;14704186;15045028;15355437;15489334;15972725;16123590;16151010;16565220;16687438;17081983;17090670;17220170;17251122;17534152;17566767;17604569;17849285;18204051;18331833;18452193;18541031;18636190;18676753;18728014;19028728;19054571;19332161;19353628;19770472;19808985;20080800;20301772;20308539;20360068;20508983;20694558;21044324;21139048;21145461;21297427;21633703;21693764;21890473;21906983;21923303;21963094;21987572;22505724;22529908;22823409;22989186;22990118;23000965;23381943;23887221;23896173;24778252 259266 B3KWI2;Q5VYL4;Q8IZT6 ABBA01027596;AF509326;AK001379;AK001380;AK001411;AK095892;AK125107;AK226178;AL353809;AL627208;AMYH02002428;AY099890;AY099891;AY099892;AY099893;AY101201;AY367065;AY971955;AY971956;AY971957;BC015396;BC034607;BC040439;BF970006;BX648804;CH471067;NG_015867;NM_001206846;NM_018136 AAH15396;AAH34607;AAM44119;AAM44120;AAM44121;AAM44122;AAM48745;AAN40011;AAR12641;AAY46813;AAY46814;AAY46815;BAA91676;BAG50897;BAG54144;EAW91270;EAW91271;EAW91272;EAW91273;EAW91274;NP_001193775;NP_060606;Q8IZT6 Hs.121028 ASP;Calmbp1;DKFZp686N06184;FLJ10517;FLJ10549;FLJ43117;MCPH5 OTTHUMP00000034411;OTTHUMP00000034412;abnormal spindle-like microcephaly-associated protein;asp (abnormal spindle)-like, microcephaly associated (drosophila) APPROVED protein-coding ENSG00000066279 HGNC:19048 08384 605481;608716 REVIEWED 1323751 ASPH aspartate beta-hydroxylase This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009] 8 8 8 q12.1 58402958 58617392 - 62413115 62627199 - 61500556 61714640 - 1580863;2325824;6480464;6902945;8699517;7240710;8554872 16673309;21898484 10767180;10956665;10974562;11007777;11069905;11991713;12118090;12130746;12477932;12713872;14702039;15041652;15302852;15302935;16154531;16341145;16341674;16344560;16564107;16712791;16949909;17020779;17156427;17207965;17400717;17500595;17569730;18288418;18387192;18781797;19087304;19197126;19200576;19403607;19567751;19663697;20020773;20562859;21139048;21145461;21565611;21832049;21862239;21890473;21906983;21963094;22123818;22586105;23438482;24768550;7821814;8823296;8889548;9287354 444 B4DQ07;B7ZM96;E5RG29;E5RG56;E5RHJ2;E5RHK2;E5RJL3;G3XAN5;Q12797 ABBA01041825;ABBA01041826;ABBA01041827;AC067881;AC090094;AF184241;AF224468;AF224469;AF289489;AF306765;AF339775;AK096383;AK291836;AK295528;AK298577;AK304314;AMYH02018062;AMYH02018063;BC015518;BC025236;BC066929;BC142967;BC144362;BC144363;BI793083;BM785890;BU623111;BU741737;BX102882;CA420254;CB115846;CB122028;CH471068;CR996516;DA136318;DN993915;EU718494;FJ461473;JC258729;JC303368;N83868;NG_013210;NM_001164750;NM_001164751;NM_001164752;NM_001164753;NM_001164754;NM_001164755;NM_001164756;NM_004318;NM_020164;NM_032466;NM_032467;NM_032468;S83325;U03109;XM_005251235;XM_005251236;XM_005251238;XM_005251239;XM_005251240;XM_005251241;XM_005251242;XM_005251243;XM_005251244;XM_005251246;XM_005251247;XM_005251248;XM_005251249;XM_005251250;XM_006716448;XM_006716449 AAA82108;AAB50779;AAF82246;AAF82247;AAG16983;AAG40811;AAG42257;AAH15518;AAH25236;AAH66929;AAI42968;AAI44363;AAI44364;AAI66658;ACD93450;ACK37363;ADQ32246;BAF84525;BAG58441;BAG60769;BAG65166;CDM55392;CDM55573;EAW86840;EAW86841;EAW86842;EAW86843;EAW86844;EAW86845;EAW86846;EAW86847;EAW86848;EAW86849;NP_001158222;NP_001158223;NP_001158224;NP_001158225;NP_001158226;NP_001158227;NP_001158228;NP_004309;NP_064549;NP_115855;NP_115856;NP_115857;Q12797;XP_005251292;XP_005251293;XP_005251295;XP_005251296;XP_005251297;XP_005251298;XP_005251299;XP_005251300;XP_005251301;XP_005251303;XP_005251304;XP_005251305;XP_005251306;XP_005251307;XP_006716511;XP_006716512 Hs.332422 1664224;1680371;1687303;1735744;1735768;1740025;1773822;1786540;1786594;1849926;1851045;1854793;2122198;2122200;2126038;2145480;2167965;2185470;2186937 A006X24;D8S1359E;D8S1374E;D8S1514;D8S1596;D8S1685;NIB322;RH12812;RH48484;RH66163;RH66780;RH91152;RH91181;SHGC-108120;SHGC-142338;SHGC-24147;SHGC-32770;WI-11767;WI-15471 AAH;BAH;CASQ2BP1;FDLAB;HAAH;JCTN A beta H-J-J;ASP beta-hydroxylase;OTTHUMP00000226573;OTTHUMP00000226574;OTTHUMP00000226610;OTTHUMP00000226611;OTTHUMP00000226612;OTTHUMP00000226613;OTTHUMP00000226615;OTTHUMP00000226619;OTTHUMP00000227490;OTTHUMP00000230645;OTTHUMP00000230646;OTTHUMP00000230647;aspartyl/asparaginyl beta-hydroxylase;aspartyl/asparaginyl-beta-hydroxylase;cardiac junctin;humbug;junctate;junctin;peptide-aspartate beta-dioxygenase APPROVED protein-coding ENSG00000198363 HGNC:757 08996 600582;601552 REVIEWED 1601744 ASPHD2 aspartate beta-hydroxylase domain containing 2 ENCODES a protein that exhibits dioxygenase activity (inferred); metal ion binding (inferred); INVOLVED IN oxidation-reduction process (inferred); peptidyl-amino acid modification (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 22 22 22 q12.1 10629181 10644874 + 26825280 26840978 + 26429314 26445012 + 6480464 10591208;12477932;14702039;15461802;15489334;19946888;20379614 57168 Q6ICH7 ABBA01055200;AK097157;AK315112;AL161993;AMYH02038166;BC036753;CH471095;CR456391;NM_020437;Z99714 AAH36753;BAG37570;BAG53427;CAB82325;CAG30277;CAI17879;CAK54397;CAK54696;EAW59715;EAW59716;NP_065170;Q6ICH7 Hs.567547 2148372 A007D44 FLJ39838 OTTHUMP00000198651;aspartate beta-hydroxylase domain-containing protein 2 protein-coding ENSG00000128203 HGNC:30437 14255 VALIDATED 1604987 ASPRV1 aspartic peptidase, retroviral-like 1 ENCODES a protein that exhibits aspartic-type endopeptidase activity; INVOLVED IN protein processing; skin development (ortholog); INTERACTS WITH copper(2+) sulfate; quercetin; 3,4-methylenedioxymethamphetamine (ortholog) 2 2 2 p13.3 70038387 70040559 - 70187221 70189397 - 69960089 69962265 - 6480464 12477932;14702039;15489334;15815621;16098038;16565508;21145461;21542132;21800051;22318384;23251661 151516 Q53RT3 ABBA01075517;AC079811;AK055994;AK057813;AMYH02004031;BC031997;BC094000;BC094002;CH471053;CS057934;NM_152792 AAH31997;AAH94000;AAH94002;AAY24017;BAB71067;BAB71587;CAI77615;EAW99836;NP_690005;Q53RT3 Hs.516253 1691036;5493315 RH99200;UniSTS:485684 MUNO;SASP;Taps OTTHUMP00000205193;SASPase;TPA-inducible aspartic proteinase-like protein;retroviral-like aspartic protease 1;skin aspartic protease;skin-specific retroviral-like aspartic protease protein-coding ENSG00000244617 HGNC:26321 08683 611765 VALIDATED 1345823 ASPN asporin This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014] 9 9 9 q22 65660507 65686862 - 95218487 95244844 - 92456205 92482562 - 1580863;6480464;7240710 11152692;11152695;11587855;12477932;12975309;14702039;15342556;15640800;16255042;16542493;16632759;16707531;17024313;17195216;17517696;17603749;17804408;17827158;18178444;18304494;18336287;18434216;18452398;19327154;19589127;19997821;20144272;20939878;21329514;21413025;21528154;21542882;21755970;21774982;21898406;22247499;22367347;22384228;22514560;23185509;23220557;23324291;23357225;23537453;23706210;23733110;23819832;23838702;23942062;24003854;24078942;24306268;24324885;24441039;24453179;24708694;24716474;24905804;25030405;25031006 54829 B4E2Z7;Q05CQ6;Q5TBF2;Q9BXN1 ABBA01018585;AF316824;AI741321;AK000136;AK027359;AK172737;AK304501;AK308107;AL137848;AMYH02021221;AY029191;AY358329;BC022059;BC063114;BP292032;CD110559;CH471089;NG_023430;NM_001193335;NM_017680 AAH22059;AAH63114;AAK31800;AAK35161;AAQ88695;BAA90967;BAB55060;BAG65309;EAW62822;EAW62823;NP_001180264;NP_060150;Q9BXN1 Hs.435655 1670882;1723923;1752083;1849331;2109071;2140046;2180310;2187282 ASPN_9828;D9S2071;D9S2074;RH119473;RH36006;SHGC-106025;SHGC-35056;STS-H75800 FLJ20129;OS3;PLAP-1;PLAP1;SLRR1C OTTHUMP00000021657;OTTHUMP00000021658;asporin (LRR class 1);asporin proteoglycan;periodontal ligament associated protein 1;periodontal ligament-associated protein 1;small leucine-rich protein 1C APPROVED protein-coding ENSG00000106819 HGNC:14872 16288 603932;607850;608135 REVIEWED 1344232 ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011] 17 17 17 q25.3 76539749 76571790 + 79935426 79975282 + 81977550 82017406 + 6480464;7240710;8699517 10506710;11244503;11358836;11438465;12477932;14562105;14702039;15489334;16196087;17081983;18176180;18775313;19953087;20416077;21139048;21279521;21832049;21835426;21900206;21906983;21963094;22207755;22337587;22350894;22379092;22863883;23288701;23349634;23383273;23443559;24457600;24816145 79058 C9JAL9;J3KRF7;J3KRG1;J3KRY8;J3QL04;J3QR12;J3QR50;J3QRW3;Q9BZE9 ABBA01019659;ABBA01019660;AC137723;AC145207;AF324219;AK057403;AK057851;AK090682;AK126967;AK127159;AK127311;AK226086;AK290624;AMYH02034146;BC006152;BC018722;CH471099;KF456337;NG_030375;NM_001251888;NM_024083;NR_045351 AAH06152;AAH18722;AAK08959;ABM83448;ABM86660;BAB71472;BAB71595;BAF83313;EAW89731;NP_001238817;NP_076988;Q9BZE9 Hs.298351 1678351;2153545 D17S704;RH79793 ASPCR1;ASPL;ASPS;FLJ45380;RCC17;TUG;UBXD9;UBXN9 UBX domain protein 9;UBX domain-containing protein 9;alveolar soft part sarcoma chromosomal region candidate gene 1 protein;alveolar soft part sarcoma locus;renal cell carcinoma gene on chromosome 17;renal cell carcinoma, papillary, 17;renal papillary cell carcinoma protein 17;tether containing UBX domain for GLUT4 APPROVED protein-coding ENSG00000169696 HGNC:13825 06947 606236;606243 REVIEWED 736136 ASS1 argininosuccinate synthase 1 The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012] 9 9 9 q34.1 103858652 103915182 + 133320094 133376661 + 130444707 130501274 + 1599301;1599263;1599267;1599305;1599310;1599265;1300048;2300098;4140479;4110824;70249;4140452;631755;4139898;4140449;4142785;6480464;6907045;7240710;8554872;8699517 10353334;10652239;11384198;11556547;11779202;12359751;12470967;15698416;17198704;19914391;20544730;20567615;20805789;4062872;7557970 11464474;11606680;11708871;11941481;12477932;12620389;12815590;1312326;1372742;14570901;14702039;15192091;15489334;16124451;16169070;16189514;16380201;16703398;17096330;17314511;17354225;18263583;18781797;18840401;19000307;19006241;19056867;19358837;19409979;1943692;19471022;19533750;19913121;19934275;20159990;20301396;20301631;20360068;20628086;20706999;20739017;21044950;21106532;21139048;21481813;21832049;21906983;21963094;21987572;21988832;22268729;22430140;22863883;22939629;23022198;23099195;23339388;23549872;2358466;23897555;24192130;24255178;24297925;24337577;24816145;24927999;2788888;3027451;3513483;6095035;6194510;6321498;7977368;852520;8792870;8895530;891260;9150948 445 B4E395;P00966;Q5T6L4;Q5T6L5;Q5T6L6;Q5T6L7 ABBA01012048;AF363662;AK027126;AK293114;AK304625;AK315093;AL354898;AMYH02021763;AW672752;AY034076;BC009243;BC013224;BC021676;BE207182;BE794559;BF305325;BI603075;BX403885;CH471090;DB496935;L00081;L00084;M34903;NG_011542;NM_000050;NM_054012;X01630;XM_005272199;XM_005272200;Z36810 AAA51782;AAA51783;AAH09243;AAH21676;AAK67487;AAM60751;ACE86914;ACE87601;BAF85803;BAG37558;BAG65407;CAA25771;EAW87932;EAW87933;EAW87934;EAW87935;EAW87936;NP_000041;NP_446464;P00966;XP_005272256;XP_005272257 Hs.160786 1342290;1672046;1694706;1745645;1759747;1783216;2107863;2148869;2160520;5014493;5124104 ASS_8219;D12S1933;D9S1861;D9S1956;D9S2057;G43543;GDB:629967;L00083;RH91535;SHGC-151267;SHGC-152551 ASS;CTLN1 OTTHUMP00000022362;OTTHUMP00000022363;OTTHUMP00000022364;argininosuccinate synthase;argininosuccinate synthetase 1;arginosuccinate synthetase;citrulline--aspartate ligase;citrulline-aspartate ligase APPROVED protein-coding ENSG00000130707 HGNC:758 04590 215700;603470 REVIEWED 1343525 ASRGL1 asparaginase like 1 ENCODES a protein that exhibits asparaginase activity; beta-aspartyl-peptidase activity; INVOLVED IN asparagine catabolic process via L-aspartate; FOUND IN nucleus; cytoplasm (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; calcitriol 11 11 11 q12.3 59434150 59490290 + 62104774 62160887 + 62337302 62393415 + 6480464 11984834;12477932;14702039;15342556;16344560;17213182;18029348;19414332;19839645;21139048;21900206;22891768;23144326;23383108;24816145;8125298 80150 B4DLU4;E9PJK6;Q7L266 ABBA01003222;AF411076;AK090908;AK091894;AK225802;AK297158;AK309845;AK313069;AMYH02024887;AMYH02024888;AP003064;AP003306;BC006267;BC021295;BC064963;BC093070;BP308677;CH471076;DA159051;DT220454;NM_001083926;NM_025080;XM_005274304;XM_005274305;XM_005274306 AAH06267;AAH21295;AAH64963;AAH93070;AAM28434;ACE86596;ACE87277;BAG35897;BAG52245;BAG52437;BAG59656;EAW74012;EAW74013;EAW74014;EAW74015;EAW74016;EAW74017;NP_001077395;NP_079356;Q7L266;XP_005274361;XP_005274362;XP_005274363 Hs.535326 2173765 STS-T23913 ALP;ALP1;CRASH;FLJ22316 L-asparaginase;L-asparagine amidohydrolase;OTTHUMP00000236068;OTTHUMP00000236070;asparaginase-like 1 protein;asparaginase-like protein 1;beta-aspartyl-peptidase;isoaspartyl dipeptidase;isoaspartyl peptidase/L-asparaginase protein-coding ENSG00000162174 HGNC:16448 07006 609212 VALIDATED 1350105 ASS1P1 argininosuccinate synthetase 1 pseudogene 1 6 6 6 p22.3 26250525 26252101 - 25023237 25024819 - 25023009 25024591 - 1440058;6093508;6321498 442167 ABBA01066541;AL160400;AMYH02013334;K01845;NG_001077 ASSP1 APPROVED pseudo HGNC:759 INFERRED 1345984 ASS1P11 argininosuccinate synthetase 1 pseudogene 11 7 7 7 p15.3 21245089 21246644 - 21259597 21261152 - 21219978 21221533 - 23251661;456;6093508 340274 ABBA01056681;AC078791;AMYH02015342;CH236948;NG_008639 ASSP11 APPROVED pseudo HGNC:761 INFERRED 1344256 ASS1P12 argininosuccinate synthetase 1 pseudogene 12 9 9 9 p21.1 32877206 32878772 + 32945892 32947458 + 32945894 32947460 + 6093508 392302 ABBA01065075;AL353717;AMYH02019413;NG_005207 ASSP12 APPROVED pseudo HGNC:762 INFERRED 1348690 ASS1P10 argininosuccinate synthetase 1 pseudogene 10 5 5 5 q32 140689275 140690849 + 144608274 144609848 + 145228711 145230285 + 2435915;6093508 455 ABBA01026349;AC132803;AMYH02012397;NG_003021 ASSP10 APPROVED pseudo HGNC:760 INFERRED 1353562 ASS1P13 argininosuccinate synthetase 1 pseudogene 13 11 11 11 q22.3 104212835 104214390 + 107046938 107048493 + 107176212 107177767 + 6093508 341230 ABBA01039887;AMYH02025525;AP003057;NG_011669 ASSP13 APPROVED pseudo HGNC:763 INFERRED 1354180 ASS1P2 argininosuccinate synthetase 1 pseudogene 2 2 2 2 p22.1 38878378 38879919 - 39037357 39038898 - 38810215 38811756 - 6093508;9847074 447 ABBA01075019;AC018693;AC092833;AMYH02003633;NG_000845 ASSP2 APPROVED pseudo HGNC:765 INFERRED 1345150 ASS1P4 argininosuccinate synthetase 1 pseudogene 4 X X X p22.33 7566322 7567886 + 3285086 3286650 + 3367045 3368609 + 6093508;6321498 449 ABBA01038685;AC004616;AMYH02038726;K01847;K01848;K01849;NG_000846 ASSP4 APPROVED pseudo HGNC:767 INFERRED 1351034 ASS1P14 argininosuccinate synthetase 1 pseudogene 14 12 12 12 p11.21 12959053 12960616 + 33138672 33140235 + 32985738 32987301 + 6093508;6321498 459 ABBA01031698;AC087311;AMYH02026310;NG_001078 ASSP14 APPROVED pseudo HGNC:764 INFERRED 1349533 ASS1P6 argininosuccinate synthetase 1 pseudogene 6 X Y Y q11.21 1014910 1016498 - 14042991 14044579 - 11922285 11923873 - 12815422;2822495;6093508;9847074 451 ABBA01065714;AC012502;NG_000848 ASSP6 APPROVED pseudo HGNC:769 INFERRED 1346261 ASS1P5 argininosuccinate synthetase 1 pseudogene 5 X X X q23 115334171 115335721 + 114899109 114900659 + 115664789 115666339 + 6093508 450 ABBA01053713;AC005000;AMYH02040281;NG_000847 ASSP5 APPROVED pseudo HGNC:768 INFERRED 1345680 ASS1P8 argininosuccinate synthetase 1 pseudogene 8 4 4 4 q31.22 146767823 146768717 - 149447412 149448306 - 148526260 148527154 - 2435915;6093508;9847074 453 ABBA01070065;AC093881;AMYH02010285;NG_003009 ASSP8 APPROVED pseudo HGNC:771 INFERRED 1353180 ASS1P3 argininosuccinate synthetase 1 pseudogene 3 9 9 9 q21.2 51370364 51371943 + 80793078 80794657 + 78178162 78179741 + 6093508;6321498 158452 ABBA01033943;AL353705;AMYH02021047;K01846;NG_012998 ASSP3 APPROVED pseudo HGNC:766 INFERRED 1348330 ASS1P9 argininosuccinate synthetase 1 pseudogene 9 5 5 5 q11.2 50108512 50110080 + 53154894 53156462 + 53859064 53860632 + 2435915;454;6093508 454 ABBA01015723;AC025175;AMYH02011297;NG_003022 1694706 G43543 ASSP9 APPROVED pseudo HGNC:772 INFERRED 1602905 ASS1P7 argininosuccinate synthetase 1 pseudogene 7 3 3 3 q26.32 175419547 175421112 - 177014711 177016276 - 177296923 177298488 - 6093508;6321498 339845 ABBA01058579;AC117465;AMYH02008196;NG_001079 ASSP7 APPROVED pseudo HGNC:770 INFERRED 1602904 ASTN1 astrotactin 1 Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009] 1 1 1 q25.2 149940230 150244095 - 176826441 177134024 - 176857305 177164904 - 6480464;8554872 12477932;16344560;16710414;18384059;18519826;19086053;20379614;21139048;22488871;3276720;8889548;9070947;9179496 460 A6H8Y4;B1AJS1;O14525;Q96BL7 AB006627;ABBA01027857;ABBA01027858;ABBA01027859;ABBA01027860;AK295126;AK307820;AK309094;AL021398;AL022145;AL031290;AL136983;AMYH02002200;AMYH02002201;AU132309;BC015438;BC032870;BC049377;BC064147;BC142697;BC146795;BF507471;BM722747;BU620695;CH471067;KF454939;KF455086;NM_001286164;NM_004319;NM_207108 AAH15438;AAI42698;AAI46796;BAA22958;BAG58151;EAW91005;EAW91006;EAW91007;EAW91008;NP_001273093;NP_004310;NP_996991;O14525 Hs.495897 1656974;1659075;1668628;1692928;1692968;1704018;1705052;1710542;1714623;1715603;1723679;1725329;1735960;1756455;1771727;1850427;2109073;2115557;2143783;2163786;2163788;2184850;2187129 A001Y13;AL009305;AL034178;AL034201;ASTN_4385;D1S1946E;D1S3037;G16290;G19776;RH118982;RH119977;RH120945;RH123083;RH35833;RH64619;SHGC-143461;SHGC-30553;SHGC-32996;SHGC-75943;SHGC-75953;SHGC-77798;SHGC-78044;SHGC-86317 ASTN;KIAA1747 OTTHUMP00000032985;OTTHUMP00000032986;OTTHUMP00000032987;OTTHUMP00000032988;astrotactin-1 APPROVED protein-coding ENSG00000152092 HGNC:773 09019 600904 VALIDATED 8698738 ASTN2-AS1 ASTN2 antisense RNA 1 9 9 9 q33.1 89914226 89972227 + 119266562 119332354 + 116504283 116562293 + 14702039;23284291 100128505 ABBA01042644;ABBA01042645;AK057447;AK097822;AL133282;AMYH02021536;AMYH02021537;CH471090;HG502372;KF458941;NR_033973 EAW87445 Hs.675821 ncrna ENSG00000229105 HGNC:51175 VALIDATED 1349169 ASTL astacin-like metallo-endopeptidase (M12 family) ENCODES a protein that exhibits metalloendopeptidase activity; peptidase activity; aspartic-type peptidase activity (ortholog); INVOLVED IN proteolysis; cell adhesion (ortholog); fertilization (ortholog); FOUND IN cortical granule (ortholog); cytoplasm (ortholog); plasma membrane (ortholog); INTERACTS WITH indole-3-methanol (ortholog); N-acetyl-L-cysteine (ortholog); N-nitrosodiethylamine (ortholog) 2 2 2 q11.1 91230396 91244982 - 96789589 96804175 - 96123850 96138436 - 1580863;6480464 12477932;15087446;19913121;20628086;24038607 431705 Q3B826;Q6HA08 ABBA01036596;AC012307;AJ537600;AMYH02004325;BC107126;BC107127;CH471207;NM_001002036 AAI07127;AAI07128;CAD61265;EAW71389;NP_001002036;Q6HA08 Hs.447993 MGC129843;SAS1B OTTHUMP00000207420;astacin-like metalloendopeptidase;astacin-like metalloendopeptidase (M12 family);oocyte astacin;ovastacin;sperm acrosomal SLLP1 binding protein-coding ENSG00000188886 HGNC:31704 16396 608860 VALIDATED 1606299 ASTE1 asteroid homolog 1 (Drosophila) ENCODES a protein that exhibits nuclease activity (inferred); INVOLVED IN DNA repair (inferred); nucleic acid phosphodiester bond hydrolysis (inferred); INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; quercetin 3 3 3 q22.1 129157968 129170892 - 130732721 130745698 - 131013873 131026854 - 6480464 12477932;14702039;19503063;24163370 28990 D6R9W5;D6RG30;D6RGH3;D6RJF1;H0Y982;Q2TB18 ABBA01059198;AC055733;AF113539;AK027258;AK027806;AK294156;AK301388;AMYH02007663;BC030274;BC069265;BC103709;BC110616;BM992874;CH471052;NM_001288950;NM_014065;NR_110229;XM_006713609 AAF14876;AAH30274;AAI03710;AAI10617;BAB55383;BAG57480;BAG62927;EAW79214;EAW79215;EAW79216;NP_001275879;NP_054784;Q2TB18;XP_006713672 Hs.100878 2106501;2136188;2156750 HT001__6609;RH11935;RH78727 HT001;MGC129980 OTTHUMP00000216083;OTTHUMP00000216085;protein asteroid homolog 1 protein-coding ENSG00000034533 HGNC:25021 11038 VALIDATED 1342865 ASUN asunder spermatogenesis regulator INVOLVED IN centrosome localization; mitotic spindle organization; protein localization to nuclear envelope; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus (ortholog); INTERACTS WITH cyclosporin A; ethyl methanesulfonate; formaldehyde 12 12 12 p11.23 32204262 32237410 - 27058112 27091254 - 26905179 26938326 - 6480464;8554872 12414650;12477932;12601173;14702039;15489334;15737938;16189514;16344560;17081983;19357193;20133760;21139048;21693764;21890473;21907836;21963094;22863883;22939629;23097494;23904267;24250222;24654937;8125298;8889548 55726 F5H457;F5H5W1;F8VRX9;H0YH12;H0YI01;H0YIA9;Q9NVM9 ABBA01068042;AC024093;AF274950;AK001222;AK001492;AK001499;AK225336;AK297948;AL137401;AMYH02026241;AY211927;BC003081;BC008368;BM684866;CH471094;DB239903;NM_018164;XM_005253422;XM_006719106;XM_006719107;XR_242896 AAH03081;AAH08368;AAK07527;AAO65180;BAA91565;BAA91721;BAA91725;BAG60263;CAB70726;EAW96538;EAW96539;NP_060634;Q9NVM9;XP_005253479;XP_006719169;XP_006719170 Hs.505077 1659784;1720043;1720065;1725991;1726689 G62316;G62581;RH123773;RH123818;RH15768 C12orf11;FLJ10630;FLJ10637;GCT1;Mat89Bb;NET48;SPATA30 OTTHUMP00000240384;asunder, spermatogenesis regulator homolog (Drosphila);cell cycle regulator Mat89Bb homolog;germ cell tumor 1;protein asunder homolog;sarcoma antigen NY-SAR-95;spermatogenesis associated 30 APPROVED protein-coding ENSG00000064102 HGNC:20174 07689 615079 VALIDATED 1314130 ASTN2 astrotactin 2 This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010] 9 9 9 q33.1 89835176 90825037 - 119187504 120177317 - 116425225 117415039 - 6480464;8554872 12477932;14702039;16344560;18839057;18940311;19086053;19910543;20195266;20379614;20889312;22504421;22566634;22658931;22683712;23251661;23284291;23793025;24250222;9734811 23245 B3KN99;B7ZKP4;B7ZKP5;H0Y3A8;H7C3I6;O75129;X6R5P2 AB014534;ABBA01016275;ABBA01016276;ABBA01016277;ABBA01016278;ABBA01042640;ABBA01042641;ABBA01042642;ABBA01042643;ABBA01042644;ABBA01042645;ABBA01042646;AF116574;AI341147;AK024064;AK127350;AK315025;AL133282;AL133284;AL137024;AL157829;AL354981;AL355608;AL358792;AL392085;AL669963;AMYH02021535;AMYH02021536;AMYH02021537;AMYH02021538;AMYH02021539;AMYH02021540;AMYH02021541;AMYH02021542;AMYH02021543;AMYH02021544;BC010680;BC018759;BC029272;BC093835;BC101667;BC143289;BC143292;BC143293;BC146756;BM552790;BX648673;BX649176;CH471090;DA015423;KF458941;KF511081;NG_021409;NM_001184734;NM_001184735;NM_014010;NM_198186;NM_198187;NM_198188 AAF14357;AAH18759;AAH29272;AAH93835;AAI01668;AAI43290;AAI43293;AAI43294;AAI46757;BAA31609;BAG37513;BAG51261;BAG54491;EAW87444;NP_001171663;NP_001171664;NP_054729;NP_937829;NP_937830;NP_937831;O75129 Hs.601562 1335416;1337449;1339025;1650037;1657378;1670082;1671468;1696226;1717321;1724919;1724967;1727687;1749465;1749647;1750135;1756609;1759517;1761217;1763457;1763761;1773310;1777948;1787156;1787196;1848255;1850297;1851201;1851258;1951428;2108595;2110267;2111057;2132993;2150532;5014051;5015661;5019571;5037552;5118686;5125522;7190777;7190781 ASTN2_9326;AU047468;D11S3553;D3S3184;D8S2278;D8S2279;D9S1078;D9S154;D9S1802;D9S2151;D9S219E;D9S754;G10349;G19227;G31091;G63257;REN46569;RH118771;RH119226;RH122151;RH18010;RH18537;SHGC-111190;SHGC-111330;SHGC-112252;SHGC-13641;SHGC-14316;SHGC-143647;SHGC-145228;SHGC-147166;SHGC-147438;SHGC-150831;SHGC-156050;SHGC-31358;SHGC-35384;SHGC-83580;SHGC-86299;SHGC-8898;TRIM32_8005;WI-14828 KIAA0634;bA67K19.1 OTTHUMP00000022742;OTTHUMP00000022743;OTTHUMP00000022745;OTTHUMP00000162109;OTTHUMP00000162110;astrotactin-2;bA264C15.1 APPROVED protein-coding ENSG00000148219 HGNC:17021 12498 612856 REVIEWED 1344717 ASXL3 additional sex combs like transcriptional regulator 3 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH trichostatin A; valproic acid; 17beta-estradiol (ortholog) 18 18 18 q11 27966488 28135348 + 31158541 31331159 + 33578577 33751195 + 6480464;8554872 10737800;11214970;14702039;15138607;16344560;16412590;18976975;20379614;23932459;24324551 80816 K7EIX5;K7EJ76;K7EKI3;K7ELD7;K7ELG8;K7ELW2;K7EQ33;K7EQY1;K7ERH8;Q9C0F0 AA447511;AB051500;ABBA01022465;ABBA01022466;ABBA01022467;AC010798;AC023192;AC090989;AK056450;AK091683;AK131454;AL133050;AMYH02034539;AMYH02034540;BE145544;DB061724;NM_030632;XM_005258356 BAB21804;BAB71186;BAD18599;CAB61377;NP_085135;Q9C0F0;XP_005258413 Hs.464876 1342303;1723509;2117570;7187383 D18S456;D18S830;RH118571 BRPS;KIAA1713 additional sex combs like 3;additional sex combs-like protein 3;putative Polycomb group protein ASXL3 APPROVED protein-coding ENSG00000141431 HGNC:29357 615115;615485 PROVISIONAL 1344611 ASXL1 additional sex combs like transcriptional regulator 1 This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 20 20 20 q11 27702183 27783146 + 30946147 31027122 + 32358334 32439319 + 1580863;6480464;7240710;8554872;8699517 10231032;11780052;12168954;12477932;12657473;1349871;14702039;15489334;16606617;17474147;18239623;18258596;18506748;18624398;18957548;19388938;19586940;19609284;19615732;19815555;19865112;19880879;20182461;20334914;20360068;20408841;20410925;20436459;20596031;20678218;20693432;20805357;20880116;21139048;21307773;21346257;21455215;21576631;21642991;21706002;21712540;21832049;21890473;21904853;21906983;21923651;21963094;21987572;21988832;22031865;22058207;22271902;22419483;22436456;22489043;22505724;22535592;22542624;22897849;22905207;22915647;22929312;23000965;23009937;23018865;23065512;23099237;23294243;23365461;23531518;23602568;23690417;23704076;24077845;24115220;24216483;24496303;24816145;25015289;8889548;9477319 171023 A6NIZ6;H0YJC9;Q498B9;Q5JWS8;Q6P1M8;Q8IXJ9 AB023195;AB084280;ABBA01019268;ABBA01019269;ABBA01019270;ABBA01019271;ABBA01019272;ABBA01019273;ABBA01019274;ABBA01019275;ABBA01019276;ABBA01019277;AJ438952;AK025756;AK122923;AL034550;AL117518;AL117647;AL121583;AMYH02036925;AMYH02036926;BC033284;BC064984;BC100280;BC137278;BC137280;BQ064719;BU686340;BX109122;CH471077;CR977683;KF495689;NG_027868;NM_001164603;NM_015338;XM_006723727;XM_006723728;XM_006723729;XM_006723730;XM_006723731;XM_006723732;XM_006723733 AAH33284;AAH64984;AAI00281;AAI37279;AAI37281;BAA76822;BAD00087;BAG53800;CAB55975;CAB56029;CAD27708;EAW76377;EAW76378;EAW76379;EAW76380;NP_001158075;NP_056153;Q8IXJ9;XP_006723790;XP_006723791;XP_006723792;XP_006723793;XP_006723794;XP_006723795;XP_006723796 Hs.374043 1338523;1669210;1669523;1676660;1770049;1849384;2115904;2138730;2152509;2219012 A004G33;ASXL1_4386;D20S1023;D20S200;RH12044;RH64149;RH66092;RH92532;SHGC-37583;Z94311 BOPS;KIAA0978;MDS;MGC117280;MGC71111 OTTHUMP00000030592;OTTHUMP00000030593;OTTHUMP00000245206;additional sex combs like 1;additional sex combs-like protein 1;polycomb group protein ASXL1;putative Polycomb group protein ASXL1 APPROVED protein-coding ENSG00000171456 HGNC:18318 16516 605039;612990;614286 REVIEWED 1312315 ASXL2 additional sex combs like transcriptional regulator 2 ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see MIM 159555) and polycomb (see MIM 610231) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (Katoh and Katoh, 2003 [PubMed 12888926]).[supplied by OMIM, Sep 2009] 2 2 2 p24.1 25802588 25941650 - 25962253 26101312 - 25733753 25878443 - 6480464;8554872 11214970;12477932;12888926;14702039;15231748;17353931;17672918;18187620;19615732;19815555;20360068;20805357;21047783;21832049;21890473;21906983;21963094;22505724;23000965;24163370;24250222 55252 E7EWD6;Q76L83 AB051472;AB084279;ABBA01045153;ABBA01045154;ABBA01045155;ABBA01045156;ABBA01045157;ABBA01045158;ABBA01045159;ABBA01045160;AC010150;AC064847;AK000649;AK001760;AMYH02003447;AMYH02003448;AMYH02003449;BC042999;BX647527;BX648218;CH471053;CR933613;NM_018263;XM_006712039;XM_006712040 AAH42999;AAY14841;ADZ15626;BAA91889;BAB21776;BAD00086;CAI45930;EAX00716;EAX00717;NP_060733;Q76L83;XP_006712102;XP_006712103 Hs.119815 1683178;1724783;1728547;1739569;1771038;2129372;2174316;2183628;2189539;2219014;5017607 A004H29;ASXL2_4387;D22S1565;D2S2091;G63712;PTGES3;RH122598;RH17952;RH92772;SGC33449;UniSTS:234880 ASXH2;DKFZp686C1968;FLJ10898;KIAA1685 OTTHUMP00000201375;additional sex combs like 2;additional sex combs-like protein 2;polycomb group protein ASXH2;putative Polycomb group protein ASXL2 APPROVED protein-coding ENSG00000143970 HGNC:23805 10676 612991 VALIDATED 1604011 ATAD2B ATPase family, AAA domain containing 2B The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014] 2 2 2 p24.1-p23.3 23812998 23990337 - 23971534 24149978 - 23690576 23927108 - 6480464 10574462;12477932;14702039;21158754;22208759;22586326;23000965;23251661;24561620;8619474;8889548;9110174 54454 C9J1G9;C9JG15;H7BYF1;Q9ULI0 AA767863;AB033066;ABBA01045093;ABBA01045094;ABBA01045095;ABBA01045096;AC009242;AC066692;AC079924;AF038204;AK094821;AK125718;AK131301;AMYH02003407;AMYH02003408;AMYH02003409;AMYH02003410;BC037408;BC071781;BC171846;BM974506;KF456640;NG_029017;NM_001242338;NM_017552;NR_125717;XM_005264372;XM_005264373;XM_006712030;XM_006712031;XM_006712032;XM_006712033;XR_426984 AAH37408;BAA86554;BAC04429;BAD18469;BAG54237;NP_001229267;NP_060022;Q9ULI0;XP_005264429;XP_005264430;XP_006712093;XP_006712094;XP_006712095;XP_006712096 Hs.467862 1650303;1669806;1755215;1788620;5123951 RH126627;RH16288;SHGC-142120;SHGC-34850;WI-14281 KIAA1240;MGC88424 ATPase family AAA domain-containing protein 2B;OTTHUMP00000200738 APPROVED protein-coding ENSG00000119778 HGNC:29230 615347 REVIEWED 1312522 ATAD2 ATPase family, AAA domain containing 2 A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008] 8 8 8 q24.13 120520748 120596364 - 124332090 124408705 - 123319850 123396465 - 737633;6480464 12477932 14702039;15302935;15334068;15342556;15489334;16712791;17081983;17998543;18029348;19056867;19318566;19471022;19843847;20374707;20855524;20864510;21139048;21252943;21693764;21890473;21906983;22178446;22586326;22771493;22914773;23000965;23393560;23752268;23775406 29028 E5RHW7;E5RIP2;Q6PL18 ABBA01037873;ABBA01037874;AC021305;AF118088;AK097133;AL833653;AMYH02018703;AMYH02018704;AY598335;BC007123;BC010686;BC019909;BC112942;BC113656;BC143716;BP314109;CA441499;CB159561;CH471060;CR749832;NM_014109 AAF22032;AAH10686;AAH19909;AAI13657;AAT06746;ADZ15725;BAC04959;CAH18688;CAH56229;EAW92033;EAW92034;EAW92035;EAW92036;NP_054828;Q6PL18 Hs.370834 1650610;1676156;1676258;1740137;2148695;2170362 D8S1689;RH66014;RH77936;RH80934;RH80997;WI-20906 CT137;DKFZp667N1320;MGC131938;MGC142216;MGC29843;MGC5254;PRO2000 AAA nuclear coregulator cancer-associated protein;ANCCA;ATPase family AAA domain-containing protein 2;OTTHUMP00000228392;OTTHUMP00000228393 APPROVED protein-coding ENSG00000156802 HGNC:30123 10678 611941 REVIEWED 1318420 ATAD1 ATPase family, AAA domain containing 1 ENCODES a protein that exhibits ATPase activity (ortholog); INVOLVED IN ATP catabolic process (ortholog); learning (ortholog); memory (ortholog); FOUND IN membrane; peroxisomal membrane; postsynaptic membrane (ortholog); INTERACTS WITH valproic acid; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 10 10 10 q23.31 83259379 83324398 - 89511608 89601111 - 87751851 87841351 - 737633;1580863;6480464 12477932 14702039;15164054;15489334;16303743;16385451;17203973;19322201;19615732;19946888;20379614;20877624;21139048;21525035;21890473;21906983;21963094;24250222 84896 B4E2J1;Q8NBU5 ABBA01021961;ABBA01021962;AC022016;AF361493;AK027506;AK075223;AK304297;AL133327;AL834370;AMYH02023500;AX235528;BC010868;BC063530;BC073998;CH471066;CQ783876;HH961762;NM_032810;XM_005270251;XM_005270252;XM_005270253 AAH10868;AAH63530;AAH73998;AAL57218;BAB55161;BAC11482;BAG65153;CAC88231;CAD39033;CAF86903;CBX51354;EAW50177;EAW50178;EAW50179;EAW50180;NP_116199;Q8NBU5;XP_005270308;XP_005270309;XP_005270310 Hs.435948 1659731;1717089;2128874;2140191;2181051;2217040 A008T45;ATAD1_3693;G24570;RH121462;SHGC-36683;STS-W32476 AFDC1;FLJ14600;FNP001 ATPase family AAA domain-containing protein 1;OTTHUMP00000020030;OTTHUMP00000020031;THORASE protein-coding ENSG00000138138 HGNC:25903 12499 614452 PROVISIONAL 1604719 ATAD3C ATPase family, AAA domain containing 3C ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 1 1 1 p36.33 1173817 1194284 - 1378152 1405538 + 1449689 1470158 + 6480464 12477932;14702039;21890473;22192748;23455922;24816145 219293 J3QSF3;Q5T2N8 ABBA01016045;ABBA01016046;ABBA01016047;AK074653;AK091918;AK094502;AL157945;AL391244;AMYH02000098;AMYH02000099;BC101211;BC101212;KF495844;NM_001039211;XM_006710451 AAI01212;AAI01213;BAC04369;NP_001034300;Q5T2N8;XP_006710514 Hs.724767 5015861;5015881;5015961;5021872;5022651;7185938 D10S16;D11S2921;D15S1477;GDB:335751;sY3084 FLJ34599;FLJ37183 ATPase family AAA domain-containing protein 3C;ATPase family, AAA domain containing 3A;OTTHUMP00000000561 protein-coding ENSG00000215915 HGNC:32151 13426 VALIDATED 1347003 ATAD3B ATPase family, AAA domain containing 3B ATAD3A (MIM 612316) and ATAD3B are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008] 1 1 1 p36.33 1147640 1172191 - 1407139 1444852 + 1471759 1509472 + 737633;6480464 12477932 10574462;14702039;15489334;16710414;16909202;17148452;17210950;17353931;17550899;18639545;18729074;19156129;19167051;19380743;19596686;19615732;19913121;20186120;20360068;20473970;20877624;21145461;21890473;21906983;22190034;22192748;22268729;22664726;22797925;23443559;23602568;23818839;24239551;24244333;24250222;24639526;24816145 83858 Q5T9A4 AB033099;ABBA01016047;AF343078;AK024028;AK127857;AK290586;AL157945;AL645728;AL834179;AMYH02000099;BC002542;BC009938;BC018701;BQ954571;CH471183;NM_031921;XM_005244806;XM_005244808;XR_241045;XR_426633 AAH02542;AAH18701;AAK38647;BAA86587;BAB14787;BAF83275;CAD38876;EAW56192;EAW56193;EAW56194;NP_114127;Q5T9A4;XP_005244863;XP_005244865 Hs.729021 2107865;2112394;5015619;5020948;5037552;5109281 ATAD3B_8108;D11S3114;D1S1425;D1S3674;D8S2279;G35510 AAA-TOB3;KIAA1273;TOB3 AAA-ATPase TOB3;ATPase family AAA domain-containing protein 3B;OTTHUMP00000000600 APPROVED protein-coding ENSG00000160072 HGNC:24007 10679 612317 PROVISIONAL 1348719 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 INVOLVED IN DNA methylation involved in gamete generation (ortholog); male meiosis (ortholog); piRNA metabolic process (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (ortholog); pi-body (ortholog); INTERACTS WITH fonofos; parathion; pirinixic acid 7 7 7 q31.2 111811458 111875763 - 117003276 117067577 - 117363222 117427523 - 632725;1580863;6480464;8554872 12040005 11279520;12477932;12690205;14702039;15364959;15489334;21378990;21880841;23816659;23966867 136991 C9JP59;F8WDQ2;Q8WWH4 ABBA01057800;AC002465;AF461259;AK093445;AMYH02016636;BC028695;BC034963;BC068488;BC098399;BC126186;BC126188;BC144207;BC144212;CH236947;CH471070;DB457846;HC006784;HC044669;NM_001301821;NM_001301822;NM_130768;NR_023315;XM_006715850;XR_428166 AAH34963;AAI26187;AAI26189;AAI44213;AAL68815;ADR83190;BAC04167;CBH19198;CBH30664;EAL24354;EAW83526;EAW83527;EAW83528;NP_001288750;NP_001288751;NP_570124;Q8WWH4;XP_006715913 Hs.352412 1337222;1340999;1719979;1799392;1805992;1806574;1806794;1807200;1807806;1808308;1809820;1810178;1810668;1813154;1815604;1815606;1816444;1817366;1817456;1817904;1818352;1818480;1818562;1821118;1821120;1821310;1821630;1822434;1825030;1827378;1828216;1828590;1829114;1829430;1831074;1831672;1832750;1834252;1834388;1834606;1836324;1839242;1839244;1840772;1841134;1844206;1844432;1846222;1846306;1846464;1985340;1985342;1985344;1985346;1985348;1985350;1985352;1985354;1985356;1985358;1985360;1985362;1985364;1985366;1985368;1985370;1985372;1985374;1985376;1985378;1985380;1985382;1985384;1985386;1985388;1985390;1985392;1985394;1985396;1985398;1985400;1985402;1985404;1985406;1985408;1985410;1985412;1985414;1985416;1985418;1985420;1985422;1985424;1985426;1985428;1985430;1985432;1985434;1985436;1985438;1985440;1985442;1985444;1985446;1985448;1985450;1985452;1985454;1985456;1985458;1985460;1985462;1985464;1985466;1985468;1985470;1985472;1985474;1985476;1985478;1985480;1985482;1985484;1985486;1985488;1985490;1985492;1985494;1985496;1985498;1985500;1985502;1985504;1985506;1985508;1985510;1985512;1985514;1985516;1985518;1985520;1985522;1985524;1985526;1985528;1985530;1985532;1985534;1985536;1985538;1985540;1985542;1985544;1985546;1985548;1985550;1985552;1985554;1985556;1985558;1985560;1985562;1985564;1985566;1985568;1985570;1985572;1985574;1985576;1985578;1985580;1985582;1985584;1985586;1985588;1985590;1985592;1985594;1985596;1985598;1985600;1985602;1985604;1985606;1985608;1985610;1985612;1985614;1985616;1985618;1985620;1985622;1985624;1985626;1985628;1985630;1985632;1985634;1985636;1985638;1985640;1985642;1985644;1985646;1985648;1985650;1985652;1985654;1985656;1985658;1985660;1985662;1985664;1985666;1985668;1985670;1985672;1985674;1985676;1985678;1985680;1985682;1985684;1985686;1985688;1985690;1985692;1985694;1985696;1985698;1985700;1985702;1985704;1985706;1985708;1985710;1985712;1985714;1985716;1985718;1985720;1985722;1985724;1985726;1985728;1985730;1985732;1985734;1985736;1985738;1985740;1985742;1985744;1985746;1985748;1985750;1985752;1985754;1985756;1985758;1985760;1985762;1985764;1985766;1985768;1985770;1985772;1985774;1985776;1985778;1985780;1985782;1985784;1985786;1985788;1985790;1985792;1985794;1985796;1985798;1985800;1985802;1985804;1985806;1985808;1985810;1985812;1985814;1985816;1985818;2094438;2094440;2094442;2094444;2094446;2094448;2094450;2094452;2094454;2094456;2094458;2094460;2094462;2094464;2094466;2094468;2094470;2094472;2094474;2094476;2094478;2094480;2094482;2094484;2094486;2094488;2094490;2094492;2094494;2094496;2094498;2094500;2094502;2094504;2094506;2094508;2094510;2094512;2094514;2094516;2094518;2094520 D6S409;D7S633;ECD00547;ECD03949;ECD04244;ECD04359;ECD04566;ECD04878;ECD05135;ECD05902;ECD06081;ECD06328;ECD07596;ECD08839;ECD08840;ECD09264;ECD09733;ECD09778;ECD10006;ECD10233;ECD10301;ECD10343;ECD11636;ECD11637;ECD11735;ECD11901;ECD12305;ECD13614;ECD14804;ECD15233;ECD15422;ECD15684;ECD15846;ECD16673;ECD16973;ECD17516;ECD18274;ECD18342;ECD18451;ECD19324;ECD20801;ECD20802;ECD21577;ECD21761;ECD23316;ECD23430;ECD24331;ECD24373;ECD24452;REN63571;REN63572;REN63573;REN63574;REN63575;REN63576;REN63577;REN63578;REN63579;REN63580;REN63581;REN63582;REN63583;REN63584;REN63585;REN63586;REN63587;REN63588;REN63589;REN63590;REN63591;REN63592;REN63593;REN63594;REN63595;REN63596;REN63597;REN63598;REN63599;REN63600;REN63601;REN63602;REN63603;REN63604;REN63605;REN63606;REN63607;REN63608;REN63609;REN63610;REN63611;REN63612;REN63613;REN63614;REN63615;REN63616;REN63617;REN63618;REN63619;REN63620;REN63621;REN63622;REN63623;REN63624;REN63625;REN63626;REN63627;REN63628;REN63629;REN63630;REN63631;REN63632;REN63633;REN63634;REN63635;REN63636;REN63637;REN63638;REN63639;REN63640;REN63641;REN63642;REN63643;REN63644;REN63645;REN63646;REN63647;REN63648;REN63649;REN63650;REN63651;REN63652;REN63653;REN63654;REN63655;REN63656;REN63657;REN63658;REN63659;REN63660;REN63661;REN63662;REN63663;REN63664;REN63665;REN63666;REN63667;REN63668;REN63669;REN63670;REN63671;REN63672;REN63673;REN63674;REN63675;REN63676;REN63677;REN63678;REN63679;REN63680;REN63681;REN63682;REN63683;REN63684;REN63685;REN63686;REN63687;REN63688;REN63689;REN63690;REN63691;REN63692;REN63693;REN63694;REN63695;REN63696;REN63697;REN63698;REN63699;REN63700;REN63701;REN63702;REN63703;REN63704;REN63705;REN63706;REN63707;REN63708;REN63709;REN63710;REN63711;REN63712;REN63713;REN63714;REN63715;REN63716;REN63717;REN63718;REN63719;REN63720;REN63721;REN63722;REN63723;REN63724;REN63725;REN63726;REN63727;REN63728;REN63729;REN63730;REN63731;REN63732;REN63733;REN63734;REN63735;REN63736;REN63737;REN63738;REN63739;REN63740;REN63741;REN63742;REN63743;REN63744;REN63745;REN63746;REN63747;REN63748;REN63749;REN63750;REN63751;REN63752;REN63753;REN63754;REN63755;REN63756;REN63757;REN63758;REN63759;REN63760;REN63761;REN63762;REN63763;REN63764;REN63765;REN63766;REN63767;REN63768;REN63769;REN63770;REN63771;REN63772;REN63773;REN63774;REN63775;REN63776;REN63777;REN63778;REN63779;REN63780;REN63781;REN63782;REN63783;REN63784;REN63785;REN63786;REN63787;REN63788;REN63789;REN63790;REN63791;REN63792;REN63793;REN63794;REN63795;REN63796;REN63797;REN63798;REN63799;REN63800;REN63801;REN63802;REN63803;REN63804;REN63805;REN63806;REN63807;REN63808;REN63809;REN63810;RH123968;stSG598599;stSG598600;stSG598601;stSG598602;stSG598603;stSG598604;stSG598605;stSG598606;stSG598607;stSG598608;stSG598609;stSG598610;stSG598611;stSG598612;stSG598613;stSG598614;stSG598615;stSG598616;stSG598617;stSG598618;stSG598619;stSG598620;stSG598621;stSG598622;stSG598623;stSG598624;stSG598625;stSG598628;stSG598629;stSG598631;stSG598632;stSG598633;stSG598634;stSG598635;stSG598636;stSG598637;stSG598638;stSG598639;stSG598640;stSG598641;stSG598642;stSG598643 ALP1;ANKL1;C7orf7;CT1.19;GASZ;MGC26634;Orf3 4933400N19Rik;OTTHUMP00000069161;ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1;ankyrin-like 1;ankyrin-like protein 1;germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein protein-coding ENSG00000154438 HGNC:1350 10677 605797 VALIDATED 1347627 ATAT1 alpha tubulin acetyltransferase 1 ENCODES a protein that exhibits coenzyme binding; tubulin N-acetyltransferase activity; INVOLVED IN alpha-tubulin acetylation; FOUND IN mitotic spindle; INTERACTS WITH cadmium atom; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 p21.33 32192731 32212715 + 30594613 30614598 + 30626836 30646821 + 6480464 12477932;14702039;16344560;19851445;20829795;21832049;23071314;23071318;23602568;24097348;24250222;24846647;24906155;8125298 79969 B7Z4Q7;Q5SQI0;Q8TAV6 AB075512;ABBA01038051;AK023220;AK225107;AK297661;AK298743;AL535697;AL662800;AL732442;AL833858;AL845353;AMYH02013437;BC006105;BC025755;BC047303;BX119957;BX418089;BX418559;BX442806;BX908728;CH471081;CR753328;CR759778;CX786272;DB090032;NM_001031722;NM_001254952;NM_024909;XM_005249414;XM_005249415;XM_005249416;XM_005249417;XM_005249418;XM_005249419;XM_005249420;XM_005249421;XM_005249422;XM_005272895;XM_005272896;XM_005272897;XM_005272898;XM_005272899;XM_005272900;XM_005272901;XM_005272902;XM_005272903;XM_005275050;XM_005275051;XM_005275052;XM_005275053;XM_005275054;XM_005275055;XM_005275056;XM_005275057;XM_005275058;XM_005275185;XM_005275186;XM_005275187;XM_005275188;XM_005275189;XM_005275190;XM_005275191;XM_005275192;XM_005275193;XM_005275307;XM_005275308;XM_005275309;XM_005275310;XM_005275311;XM_005275312;XM_005275313;XM_005275314;XM_005275315;XM_005275480;XM_005275481;XM_005275482;XM_005275483;XM_005275484;XM_005275485;XM_005275486;XM_005275487;XM_005275488;XM_005275611;XM_005275612;XM_005275613;XM_005275614;XM_005275615;XM_005275616;XM_005275617;XM_005275618;XM_005275619;XM_006715214;XM_006725528;XM_006725747;XM_006725854;XM_006725943;XM_006726044;XM_006726132;XR_241917;XR_241918;XR_241919;XR_241920;XR_246968;XR_246969;XR_246970;XR_246971;XR_247355;XR_247356;XR_247357;XR_247358;XR_247376;XR_247377;XR_247378;XR_247379;XR_247391;XR_247392;XR_247393;XR_247394;XR_247407;XR_247408;XR_247409;XR_247410;XR_247428;XR_247429;XR_247430;XR_247431 AAH06105;AAH25755;AAH47303;BAB14472;BAE45758;BAH12643;BAH12864;CAD38717;EAX03306;EAX03307;EAX03308;EAX03309;NP_001026892;NP_001241881;NP_079185;Q5SQI0;XP_005249471;XP_005249472;XP_005249473;XP_005249474;XP_005249475;XP_005249476;XP_005249477;XP_005249478;XP_005249479;XP_005272952;XP_005272953;XP_005272954;XP_005272955;XP_005272956;XP_005272957;XP_005272958;XP_005272959;XP_005272960;XP_005275107;XP_005275108;XP_005275109;XP_005275110;XP_005275111;XP_005275112;XP_005275113;XP_005275114;XP_005275115;XP_005275242;XP_005275243;XP_005275244;XP_005275245;XP_005275246;XP_005275247;XP_005275248;XP_005275249;XP_005275250;XP_005275364;XP_005275365;XP_005275366;XP_005275367;XP_005275368;XP_005275369;XP_005275370;XP_005275371;XP_005275372;XP_005275537;XP_005275538;XP_005275539;XP_005275540;XP_005275541;XP_005275542;XP_005275543;XP_005275544;XP_005275545;XP_005275668;XP_005275669;XP_005275670;XP_005275671;XP_005275672;XP_005275673;XP_005275674;XP_005275675;XP_005275676;XP_006715277;XP_006725591;XP_006725810;XP_006725917;XP_006726006;XP_006726107;XP_006726195 Hs.654798 1666547;1677824;1685379;1697858;1729179;1776546;1786124;2189615 C4_2_25;D6S1149E;RH102456;RH68972;RH8148;RH98618;SHGC-172547;UniSTS:146572 C6orf134;DKFZp547J097;FLJ13158;MEC17;Nbla00487;TAT OTTHUMP00000029316;OTTHUMP00000029318;OTTHUMP00000029319;OTTHUMP00000163694;OTTHUMP00000163695;OTTHUMP00000163696;acetyltransferase MEC-17;acetyltransferase mec-17 homolog;alpha-TAT;alpha-TAT1;alpha-tubulin N-acetyltransferase;alpha-tubulin N-acetyltransferase 1;hypothetical protein LOC79969 APPROVED protein-coding ENSG00000137343 HGNC:21186 12850 615556 VALIDATED 1314304 ATAD3A ATPase family, AAA domain containing 3A ATAD3A and ATAD3B (MIM 612317) are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008] 1 1 1 p36.33 1110376 1132920 - 1447523 1470067 + 1512143 1534687 + 737633;6480464;8554872 12477932 14702039;15489334;16055720;16344560;16710414;17110338;17148452;17210950;17353931;18063578;18639545;19041431;19156129;19531213;19738201;20154147;20332122;20349121;20351179;20360068;20473970;20877624;21139048;21145461;21182205;21584487;21743956;21890473;21906983;21907836;21987572;22190034;22192748;22268729;22318359;22542587;22586326;22623428;22664726;23182705;23443559;23455922;24057885;24239551;24244333;24250222;24457600;24550385;24639526;24816145 55210 H0Y2W2;Q5SV16;Q9NVI7 ABBA01016051;ABBA01016052;AK001571;AK025865;AK056099;AK091144;AK092833;AK310572;AL645728;AMYH02000100;AMYH02000101;AMYH02000102;BC007803;BC011814;BC014101;BC033109;BC063607;CH471183;DA206969;GU189416;NM_001170535;NM_001170536;NM_018188 AAH07803;AAH11814;AAH14101;AAH33109;AAH63607;ACZ80514;BAA91764;BAC03595;BAG51625;EAW56186;EAW56187;EAW56188;EAW56189;EAW56190;EAW56191;NP_001164006;NP_001164007;NP_060658;Q9NVI7 Hs.23413 2107865;2112394;2150645 ATAD3B_8108;D1S3674;SHGC-74117 FLJ10709;FLJ35514 ATPase family AAA domain-containing protein 3A;OTTHUMP00000000594;OTTHUMP00000000595;OTTHUMP00000000596 APPROVED protein-coding ENSG00000197785 HGNC:25567 12500 612316 VALIDATED 1351713 ATD asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) ASSOCIATED WITH Jeune syndrome (inferred) 7240710 7702088 465 HGNC:780 208500 1319593 ATCAY ataxia, cerebellar, Cayman type This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3818196 3865544 + 3880618 3928080 + 3880620 3928082 + 1599351;1599348;5133436;6480464;7240710;8699517;8554872 14556008;16246457;17092653 11347906;12477932;14702039;15489334;16275660;16344560;16899818;17207965;19165527;19861499;21782286;21832049;23226316;8845847 85300 B4DS11;M0R197;M0R225;Q86WG3 AB058775;ABBA01002852;ABBA01002853;ABBA01002854;ABBA01002855;ABBA01002856;ABBA01002857;AC011488;AK027889;AK092309;AK125457;AK299522;AMYH02035265;AY220297;BC008736;BC014884;BC026217;BF516378;BX505461;CH471139;DA151785;DA778097;NG_012638;NM_033064 AAH26217;AAO63019;ADQ32311;BAB47501;BAC03859;BAG54199;BAG61473;EAW69280;NP_149053;Q86WG3 Hs.418055 5015861;5016478;5020946;5022383;5022450;5022578;5022651;5037552;5109281;7185938 D10S16;D10S275;D11S2921;D1S1423;D1S1425;D8S2279;ECD04345;GDB:434012;L17971 BNIP-H;CLAC;KIAA1872 BNIP-2-homolgy;BNIP-2-homology;Cayman ataxia;ataxia cayman type protein;caytaxin APPROVED protein-coding ENSG00000167654 HGNC:779 10491 601238;608179 REVIEWED 8165677 ATE1-AS1 ATE1 antisense RNA 1 (head to head) 10 10 10 q26.13 117419789 117443453 + 123687862 123711480 + 121949341 121951965 + 20379614 100130887 ABBA01062854;AI634505;AL731566;AMYH02023944;BF434328;BF513344;NR_120495;XR_246198;XR_247577;XR_252829 Hs.650058 APPROVED ncrna HGNC:49496 VALIDATED 1316513 ATF1 activating transcription factor 1 This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010] 12 12 12 q13 49959051 50016446 + 51157789 51214943 + 50764006 50821160 + 1580863;2316104;6480464 19924104 10567391;10585419;10722738;10945975;11014230;11018520;11877423;11909979;11992546;12195699;12391222;12444143;12477932;12527906;12631284;12734209;12748173;12760902;12805554;14767471;15041276;15276183;15489334;15806162;15884099;16227528;16327442;16344560;1655749;16716376;17565989;18794154;18950845;19561568;19714462;19913121;19950226;20398657;20413592;20453000;20536573;20628086;20945072;20972440;21484932;21658281;21890473;2196176;21963094;22052915;22505724;22510762;22631637;22939629;23000965;24051143;24816145;2516827;7730336;8384217;8401579;8570175;8621702;8663317;8798441;8889548;9016641;9671480;9685505;9824209 466 AAB25878;F8VRN2;F8VS03;F8VYE5;F8VYN3;P18846 ABBA01031587;ABBA01031588;AC013244;AK299240;AK313406;AMYH02026469;AMYH02026470;BC029619;BG502726;BG545632;BG611151;BG611861;BI712653;BU682151;BX102171;CH471111;DA468394;NG_027673;NM_005171;X55544 AAB25878;AAH29619;ABZ91993;ABZ92155;BAG36201;BAG61271;CAA39150;EAW58151;NP_005162;P18846 Hs.648565 1698538;1768662;1848419;2138157;2218262;5093150 A009H30;ATF1_4332;G32549;RH102820;RH44890;RH71282 EWS-ATF1;FUS/ATF-1;TREB36 OTTHUMP00000241242;OTTHUMP00000241244;cAMP-dependent transcription factor ATF-1;cyclic AMP-dependent transcription factor ATF-1 APPROVED protein-coding ENSG00000123268 HGNC:783 00440 123803 REVIEWED 1605345 ATAD5 ATPase family, AAA domain containing 5 ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN cellular response to DNA damage stimulus (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; calcitriol 17 17 17 q11.2 26081154 26143209 + 29159020 29222295 + 30832002 30895277 + 6480464 10843809;11468690;12477932;14702039;15983387;17632510;18391951;19291764;19471022;19755857;20147293;20379614;20546612;20881960;21555454;21640107;21693764;21896657;21901109;21906983;21963094;23277426;23563607;23937667;24816145 79915 Q96QE3 ABBA01014979;ABBA01014980;ABBA01014981;ABBA01014982;ABBA01014983;ABBA01014984;ABBA01014985;AC127024;AC130324;AJ314648;AK022797;AL832103;AMYH02033282;AMYH02033283;AMYH02033284;AMYH02033285;AY557611;BC015051;NM_024857 AAH15051;AAI48344;AAT52049;BAB14248;CAC44537;CAH10412;NP_079133;Q96QE3 Hs.528902 1753469;1768628;2155173 RH44898;SHGC-107412;SHGC-33441 C17orf41;ELG1;FLJ12735;FRAG1 ATPase family AAA domain-containing protein 5;OTTHUMP00000163682;chromosome fragility associated gene 1;chromosome fragility-associated gene 1 protein;enhanced level of genomic instability 1 homolog protein-coding ENSG00000176208 HGNC:25752 07792 609534 PROVISIONAL 3539572 ATF1P1 activating transcription factor 1 pseudogene 1 6 6 6 q16.1 94017738 94018529 - 93596985 93597776 - 92887267 92888058 - 100128159 ABBA01040577;AL356956;AMYH02014120;NG_016455 1786008 SHGC-154984 pseudo HGNC:37691 INFERRED 1319626 ATE1 arginyltransferase 1 This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 10 10 10 q26.13 117234468 117419505 - 123499939 123688149 - 121740421 121928801 - 1580863;6480464 12477932;14702039;15489334;16002466;16385451;16943202;19615732;20379614;21139048;21263130;21906983;22262859;22280815;22665520;22863883;23455924;9858543 11101 B3KWA3;B4DK25;B4E107;F5GXE4;H0Y5C2;O95260;Q5SQQ1 ABBA01062854;ABBA01062855;ABBA01062856;ABBA01062857;ABBA01062858;ABBA01062859;ABBA01062860;ABBA01062861;ABBA01062862;AC025947;AF079098;AF079099;AK124669;AK292657;AK295642;AK296356;AK299101;AK303604;AK308926;AK313057;AL731542;AL731566;AMYH02023942;AMYH02023943;AMYH02023944;BC022026;CH471066;HY046979;NM_001001976;NM_001288734;NM_001288735;NM_001288736;NM_007041;NR_110006;XM_005269456;XM_005269458;XM_005269459;XM_005269460;XM_005269461 AAD12366;AAD12367;AAH22026;ABM83018;ABM86211;BAF85346;BAG35887;BAG54065;BAG58513;BAG59037;BAG61160;BAG64619;EAW49334;EAW49335;EAW49336;NP_001001976;NP_001275663;NP_001275664;NP_001275665;NP_008972;O95260;XP_005269513;XP_005269515;XP_005269516;XP_005269517;XP_005269518 Hs.632080 1703194;1713247;1720927;1777679;2108703;2184536;2184538 ATE1_9219;G59293;RH120614;RH44797;SGC32262;SHGC-36497;STS-AA011535 MGC26724 OTTHUMP00000020637;OTTHUMP00000020638;R-transferase 1;arginine-tRNA--protein transferase 1;arginyl-tRNA--protein transferase 1;arginyl-tRNA-protein transferase APPROVED protein-coding ENSG00000107669 HGNC:782 06979 607103 REVIEWED 735760 ATF3 activating transcription factor 3 This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes. [provided by RefSeq, Apr 2011] 1 1 1 q32.3 185964759 186020178 + 212738676 212794119 + 212565334 212620777 + 1580863;2302137;6480464;5143919;8554872 16322555;18061509 11375399;11726207;11792711;11810028;12034827;12161427;12372430;12386811;12392999;12477932;12718878;12805554;12833146;12881527;14667575;14673171;14702039;14759258;15280448;15385533;15489334;15670751;15933712;16079301;16109718;16169070;16263788;16286461;16291753;16300731;16306208;16344560;16484797;16613840;16912181;16989641;17014422;17042743;17102133;17178897;17295236;17437852;17599613;17952119;18001166;18029348;18192274;18235102;18255255;1827203;18426833;18692824;18755691;18802113;18922905;19050264;19060337;19136462;19164757;19219066;19582787;19647793;19913121;19932681;20002170;20110283;20167600;20180416;20211142;20215396;20304822;20351107;20360311;20398657;20413626;20423458;20485437;20581861;20592017;20628086;20696134;20930144;21061913;21129190;21139048;21191795;21294679;21300803;21315420;21324310;21414204;21421043;21451046;21454613;21467165;21495874;21514952;21554132;21593605;21629765;21645504;21668942;21693764;21801305;21821004;21844328;21900211;21906983;21927023;21986529;22046379;22179317;22347845;22475484;22485215;22665497;22753726;22764884;22768301;22851689;22939624;22978410;22989952;22991139;23002211;23088992;23187734;23269699;23455924;23536558;23560949;23648135;23661758;23706953;23733932;23868936;23921126;24098051;24133584;24420912;24460316;24509533;24554706;24600036;2516827;7515060;7692236;8152431;8576171;8622660;8649793 467 P18847;Q5VTZ4 AB066566;AB078026;AB078027;AB078028;AB209032;ABBA01048167;ABBA01048168;AC092803;AI492228;AI949953;AK123699;AK125255;AK294296;AK312998;AL560585;AL590648;AL606913;AMYH02002643;AMYH02002644;AMYH02002645;AU135799;AY313926;AY313927;AY426987;BC006322;BI524020;BI819383;BT006996;CD638624;CD641946;CD742713;CH471100;CR450334;DA589280;DA691940;DB197400;L19871;NG_029871;NM_001030287;NM_001040619;NM_001206484;NM_001206486;NM_001206488;NM_001674;U37542;XM_005273146 AAA20506;AAH06322;AAP35642;AAP93895;AAP93896;AAQ93358;ABM83649;ABM86898;BAB84092;BAC00495;BAC00496;BAC05510;BAD92269;BAG35834;BAG57579;CAG29330;EAW93383;EAW93384;EAW93385;EAW93386;EAW93387;EAW93388;NP_001025458;NP_001035709;NP_001193413;NP_001193415;NP_001193417;NP_001665;P18847;XP_005273203 Hs.460 1341238;1674063;1676656;1791606;2126211;2129636;2145348;5023244 AL009578;D1S1667;D1S3565;PMC117192P1;RH17630;RH69028;SHGC-12563;SHGC-76330 FLJ41705 ATF3deltaZip2;ATF3deltaZip2c;ATF3deltaZip3;OTTHUMP00000034887;OTTHUMP00000034888;OTTHUMP00000034890;OTTHUMP00000038593;OTTHUMP00000038594;cAMP-dependent transcription factor ATF-3;cyclic AMP-dependent transcription factor ATF-3 APPROVED protein-coding ENSG00000162772 HGNC:785 04395 603148 REVIEWED 733712 ATF4 activating transcription factor 4 This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011] 22 22 22 q13.1 23718625 23720747 + 39916569 39918691 + 39520564 39522686 + 1580863;734979;6480464;6907045 10096021 10419887;10591208;11018027;11025215;11087824;11238952;11274184;11564156;11960987;12477932;12689582;12743605;12805554;12812986;12860379;1371974;14561767;14623284;14630807;14630918;14695168;14747470;15277680;15314157;1534408;15385533;15461802;15475356;15489334;15677469;15775988;15788408;16169070;16189514;16219772;16343488;16682973;16687408;16751776;17042743;17346882;17347301;17369260;17684156;17707795;17726049;17822787;17938202;17996332;18052253;18163433;18171674;18189280;18195013;18255255;1827203;18276110;18330356;18408768;18451308;1847461;18635891;18697751;18940792;19017641;19053519;19061639;19073601;19114033;19164757;19193809;19251251;19417138;19447967;19453261;19509279;19855386;19922526;19946894;20022965;20185790;20211142;20398657;20473272;20514020;20551969;20564243;20592469;20724472;20732869;20873783;20936779;21044953;21087962;21113145;21203563;21244365;21683813;21693764;21706477;21801305;21832049;21866569;21906983;21951999;21963094;21966512;21988832;22007000;22016052;22017875;22050711;22052162;22082360;22233381;22246806;22338651;22363646;22422769;22435535;22485215;22609407;22691366;22813743;22848420;22915762;22955275;23001845;23078367;23090478;23128233;23153536;23205607;23241898;23242184;23339444;23392669;23471465;23661758;23665047;23792164;23891064;23908598;23916134;23975372;24021586;24100623;24308964;24330582;24418603;24853302;2516827;8939898;9190894;9295363;9488481 468 P18848;Q96AQ3 ABBA01055574;AK057751;AK296028;AL022312;AMYH02038383;BC008090;BC011994;BC016855;BC022088;BC024775;BC044895;BC073754;BC073990;CH471095;CR450353;CR456384;D90209;M86842;NM_001675;NM_182810 AAA52071;AAH08090;AAH11994;AAH16855;AAH22088;AAH24775;AAH44895;AAH73754;AAH73990;ABM82684;ABM85868;BAA14234;BAG58796;CAG29349;CAG30270;CAK54373;CAK54672;EAW60341;EAW60342;NP_001666;NP_877962;P18848 Hs.496487 1776635;1792878;2158482;2218264;5113387 ATF4_4333;PMC166200P2;RH48164;RH71390;RH79684 CREB-2;CREB2;TAXREB67;TXREB DNA-binding protein TAXREB67;OTTHUMP00000199130;OTTHUMP00000199131;activating transcription factor atf-4;cAMP response element-binding protein 2;cAMP-dependent transcription factor ATF-4;cAMP-responsive element-binding protein 2;cyclic AMP-dependent transcription factor ATF-4;cyclic AMP-responsive element-binding protein 2;tax-responsive enhancer element B67;tax-responsive enhancer element-binding protein 67 APPROVED protein-coding ENSG00000128272 HGNC:786 06817 604064 REVIEWED 1353507 ATF4P1 activating transcription factor 4 pseudogene 1 X X X q28 153968835 153970275 + 153850591 153852031 - 154622340 154623780 - 11410370;11709543;8088803 469 ABBA01029065;AC244107;AF277315;NG_001080;U03712 1813312;1827662;2102696;2102698;2102700;2102740;2102742 ECD07676;ECD14951;stSG604158;stSG604159;stSG604160;stSG604188;stSG604189 ATF4P;TAXREB67P;TXREBP activating transcription factor 4 pseudogene (tax-responsive enhancer element b67 pseudogene);uncharacterized protein LOC643894 pseudo HGNC:789 INFERRED 2291806 ATF4P2 activating transcription factor 4 pseudogene 2 X X X q28 153968835 153970275 + 153808909 153810349 + 154580646 154582086 + 11410370;11709543;8088803 340600 AC244090;AF277315;NG_002951 1813312;1827662;2102696;2102698;2102700;2102740;2102742 ECD07676;ECD14951;stSG604158;stSG604159;stSG604160;stSG604188;stSG604189 pseudo HGNC:34025 INFERRED 1344419 ATF4P4 activating transcription factor 4 pseudogene 4 11 11 11 q23.2 110813721 110815056 + 113660760 113662175 + 113790038 113791453 + 10610718 100127952 ABBA01039782;AMYH02025595;AP003170;NG_021835 ATF4B APPROVED pseudo HGNC:787 INFERRED 1350993 ATF5 activating transcription factor 5 ENCODES a protein that exhibits RNA polymerase II regulatory region sequence-specific DNA binding; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 19 19 19 q13.3 47301474 47306707 + 50431959 50437193 + 49928702 49933936 + 1580863;6480464;8554872 10373550;11087824;11278933;12477932;12812986;1371974;14702039;15221005;15342556;15358120;15489334;15890932;16164412;16170340;16300731;16344560;17346882;18029348;18055463;18195013;18276110;18332083;18458088;18701499;18832568;19167516;19251251;19285020;19531563;20379614;20423929;21212266;21521685;21791614;21972289;21988832;22442021;22528486;23018213;23275563;23661758;23876217;24250222;24302293;24379400;8889548 22809 M0QZD2;M0R040;M0R0D5;Q9Y2D1 AB021663;AB073613;ABBA01032907;AC011452;AF101388;AF305687;AK024402;AK091985;AK290592;AMYH02036335;AX090307;AX884016;BC005174;BF528888;BM462249;BP378116;BU187153;BU730542;CH471177;DA251296;DA684664;HY011917;NG_021170;NG_023448;NM_001193646;NM_001290746;NM_012068 AAD28370;AAG22558;AAH05174;BAA78477;BAD38650;BAF83281;BAG51295;CAC34908;CAE92201;EAW52581;EAW52582;EAW52583;NP_001180575;NP_001277675;NP_036200;Q9Y2D1 Hs.9754 1681217;2129143 D19S669E;RH79668 ATFX;FLJ34666;HMFN0395 cAMP-dependent transcription factor ATF-5;cyclic AMP-dependent transcription factor ATF-5;transcription factor ATFx 1643251 BW139_H protein-coding ENSG00000169136 HGNC:790 05906 606398 VALIDATED 1352172 ATF4P3 activating transcription factor 4 pseudogene 3 17 17 17 q25.1 70815673 70817094 - 74221746 74223167 - 76225665 76227086 - 10610718 643159 ABBA01028754;AC015801;AMYH02034007;NG_009319 1776635 RH71390 ATF4C APPROVED pseudo HGNC:788 INFERRED 732287 ATF2 activating transcription factor 2 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell's DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014] 2 2 2 q32 169552560 169646448 - 175936978 176032934 - 175072250 175168206 - 704409;1580863;6480464;5135029;6484113;6907045;8554872 11125071;21641970 10066798;10085140;10207054;10327051;10357819;10393177;10567391;10708586;10821277;10878576;10909971;11231009;11259586;11279118;11302752;11564156;11566021;11713276;11836564;11839738;11932306;12110590;12200150;12244047;12270648;12477932;12592382;12663670;12697749;12761180;12788955;12804775;12805554;12833146;12874243;12958075;14499342;14630918;14678960;14734562;14988408;15105425;15276183;15302935;15304344;15546613;15691875;15692053;15878807;15916964;16049073;16179804;16300731;16303757;16344560;1641004;16418168;16456540;16511568;16533805;16869889;16896160;17036053;17054722;17081983;17082618;17244683;17254968;17258390;17296604;17337306;17626013;17681939;17869487;17875713;18029348;18077426;1827203;1828107;18307971;1833307;18348191;1838349;18396163;18397884;18547788;18671972;18677098;18700251;19082758;19135240;19176525;19184334;19278424;19331149;19453261;19487697;19712049;19822663;19861239;19913121;19923798;19944700;20051382;20068037;20116378;20195357;20211142;20213747;20379614;20398657;20498639;20507983;20581861;20619956;20628086;20675274;20956942;21098032;21203491;21278380;21384452;21444723;21565167;21832049;21858082;21890473;21901137;21988832;21990224;22275354;22304920;22351776;22439931;22685333;22843696;23000965;2320002;23416976;23589174;23591579;23656735;23661758;23800081;23966864;24223142;24289970;24338393;24780446;2516827;2521922;2529117;602896;7535770;7737129;7737130;7769693;7774816;8027667;8440710;8628277;8654373;8798441;9030721;9058782;9110174;9139739;9155018;9162092;9207092;9207191;9235954;9399639;9405416;9445037;9488727;9524124;9628874;9659924;9671405;9685505;9748258;9786917;9873047;9920921 1386 A4D7V5;B3KY57;B8ZZU6;C9JCI8;E9PBF9;E9PEK8;F2Z2K2;F5H629;H7C2N6;P15336 ABBA01062202;ABBA01062203;ABBA01062204;AC007435;AC074291;AC096649;AC131958;AF283776;AI200584;AK128731;AL050192;AMYH02005284;AMYH02005285;AY029364;BC026175;BC107698;BC130335;BC130337;BX648469;CH471058;DA995464;DQ003036;DQ003037;DQ003038;DQ003039;DQ003040;DQ003041;DQ003042;DQ003043;DQ003044;DQ003045;DQ003046;DQ003047;DQ003048;DQ003049;KF456745;M31630;NM_001256090;NM_001256091;NM_001256092;NM_001256093;NM_001256094;NM_001880;NR_045768;NR_045769;NR_045770;NR_045771;NR_045772;NR_045773;NR_045774;X15875 AAA35951;AAH26175;AAI07699;AAI30336;AAI30338;AAK55760;AAX88876;AAY15004;AAY17202;AAY17203;AAY17204;AAY17205;AAY17206;AAY17207;AAY17208;AAY17209;AAY17210;AAY17211;AAY17212;AAY17213;AAY17214;AAY17215;ADR83024;BAG54719;CAA33886;EAX11109;EAX11110;EAX11111;EAX11112;EAX11113;NP_001243019;NP_001243020;NP_001243021;NP_001243022;NP_001243023;NP_001871;P15336 Hs.592510 1668093;1680090;1682489;2106955;2126323;2160189;5126545 ATF2_7769;RH80244;RH80902;SGC38090;SHGC-31988;SHGC-33561;WI-18856 CRE-BP1;CREB-2;CREB2;HB16;MGC111558;TREB7;ratf2 OTTHUMP00000163262;OTTHUMP00000205344;OTTHUMP00000205345;OTTHUMP00000205347;OTTHUMP00000205348;OTTHUMP00000205350;OTTHUMP00000205352;OTTHUMP00000205353;OTTHUMP00000205354;activating transcription factor 2 splice variant ATF2-var2;cAMP response element-binding protein CRE-BP1;cAMP responsive element binding protein 2, formerly;cAMP-dependent transcription factor ATF-2;cAMP-responsive element-binding protein 2;cyclic AMP-dependent transcription factor ATF-2;cyclic AMP-responsive element-binding protein 2;histone acetyltransferase ATF2 APPROVED protein-coding ENSG00000115966 HGNC:784 00443 123811 REVIEWED 1346168 ATF6B activating transcription factor 6 beta The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 6 6 6 p21.3 33650086 33663069 - 32083045 32096017 - 32115268 32128240 - 1580863;6480464;6907045;8554872 10644760;11158310;11163209;11256944;12445808;12477932;12782636;14574404;14656967;14702039;14973138;18029348;19693772;19851445;19913121;20628086;21139048;21693764;22094256;23535732;23577725;23661758;23886662;24250222;7686164;8586413;8870652;8923003 1388 H0Y7D7;Q6AZW6;Q99941 ABBA01038104;AK000928;AL049547;AL662828;AL662884;AMYH02013466;BC008394;BC077075;BT007042;CH471081;CR753803;CR925796;NG_033940;NM_001136153;NM_004381;U31903;U52693;U52694;U52696;U52701;U89337;X98053;X98054 AAA97438;AAB47487;AAG14898;AAG14900;AAH08394;AAH77075;AAP35691;CAA66663;CAA66664;CAB89295;EAX03581;EAX03582;EAX03583;EAX03584;EAX03585;NP_001129625;NP_004372;Q99941 Hs.42853 1687938;1788596;2114344;2137972;2140482;2189367;2218436;5014051;5015619;5016478;5037552 CREBL1_4188;D11S3114;D8S2278;D8S2279;GDB:434012;MARC2535-2536;MARC_2920-2921:991933729:7;RH46843;RH92380;STS-N24775;STS-X98054 ATF6-beta;CREB-RP;CREBL1;FLJ10066;G13 Creb-related protein;OTTHUMP00000029432;OTTHUMP00000029433;cAMP response element-binding protein-related protein;cAMP responsive element binding protein-like 1;cAMP-dependent transcription factor ATF-6 beta;cAMP-responsive element-binding protein-like 1;cyclic AMP-dependent transcription factor ATF-6 beta APPROVED protein-coding ENSG00000213676 HGNC:2349 02992 600984 REVIEWED 1312669 ATF7 activating transcription factor 7 ENCODES a protein that exhibits enzyme binding; mitogen-activated protein kinase binding; transcription factor binding; INVOLVED IN regulation of transcription, DNA-templated; FOUND IN nuclear periphery; INTERACTS WITH trichostatin A; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 q13 53556201 53670237 - 53901640 54020200 - 53507856 53626415 - 1580863;6480464 10376527;10698518;11278933;11566021;12477932;12805554;14643450;15342556;15735663;15867431;16147992;16344560;1694576;17081983;17264123;18029348;18671972;18950637;19471022;20189936;20195357;21693764;21858082;21890473;21998595;22242598;22939629;23000965;23426901;23793025;7769693;8288576;8649858;8889548;8939888 11016 F8VWG7;K7EKZ7;K7ESA4;P17544 AA679547;ABBA01008343;ABBA01008344;ABBA01008345;ABBA01008346;ABBA01008347;ABBA01008348;ABBA01008349;AC023509;AC073594;AK298853;AK302907;AK310355;AK313507;AMYH02026525;AMYH02026526;AMYH02026527;BC032433;BC042363;BC136302;BC140006;BP279417;BP312300;BQ184780;CH471054;DB047160;DB490927;NM_001130060;NM_001206682;NM_001206683;NM_006856;NR_073163;X52943;X57197;XM_005268587;XM_006719202;XM_006719203 AAH42363;AAI36303;AAI40007;BAG36287;BAG60976;BAG64077;CAA37118;CAA40483;EAW96723;EAW96724;NP_001123532;NP_001193611;NP_001193612;NP_006847;P17544;XP_005268644;XP_006719265;XP_006719266 Hs.12286;Hs.633602 1649597;1663627;1698130;1733546;1733552;1768539;1770269;1852420;2107793;2110161;2127255 D12S884;D12S887;MARC_34356-34357:1062684397:1;RH102598;RH18103;RH44962;SHGC-57261;STS-R37637;STS-R96214;WI-8969;st305c11-8a10 ATFA;MGC57182 OTTHUMP00000242069;OTTHUMP00000242319;cAMP-dependent transcription factor ATF-7;cyclic AMP-dependent transcription factor ATF-7;transcription factor ATF-A protein-coding ENSG00000170653 HGNC:792 06968 606371 VALIDATED 1313517 ATF6 activating transcription factor 6 This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011] 1 1 1 q22-q23 134839502 135032269 + 161736034 161933860 + 161766244 161964070 + 1580863;6480464;6907045;8554872 10564271;10866666;11158310;11163209;11256944;11287625;11483355;11805088;11821395;11909875;12014989;12076252;12097557;12477932;12713871;12782636;12805554;12949534;14699159;14765107;15063770;15299016;15342556;15489334;15598891;15899857;16196087;16469704;16505252;16710414;17092596;17101776;17327457;17440018;17442311;17522056;17686766;18022401;18635891;18650380;18840095;19122331;19304306;19420237;19667116;19693772;19722195;19723703;19772629;19816510;19822759;19913121;20160352;20219975;20628086;20732420;20800603;20936779;21106748;21131360;21150130;21211013;21329801;21329806;21345978;21355074;21385877;21454619;21521793;21693764;21809331;21832049;21841196;21906983;21963094;21976666;21988832;22013072;22099811;22102412;22146569;22268729;22354938;22577136;22872700;22917505;22956602;23011799;23037953;23382691;23661758;23864652;23924739;24043630;24177270;24240056;24269637;24302549;24636989;24664756;24726443;2516827;8889548;9271374;9837962 22926 A8K383;P18850 AB015856;AB208929;ABBA01047311;ABBA01047312;ABBA01047313;AC243424;AC244129;AF005887;AF088035;AK025316;AK290498;AL359541;AL391825;AL450995;BC014969;BC071997;BM683233;BP380917;BX538263;CH471067;NG_029773;NM_007348;XM_006711224;XM_006711225 AAB64434;AAH14969;AAH71997;AAI66676;BAA34722;BAD92166;BAF83187;EAW90694;NP_031374;P18850;XP_006711287;XP_006711288 Hs.492740;Hs.617868 1653170;1675249;1693110;1770481;1771808;1992856;2116438;2122251;2151408;2176322;5014051;5015619;5021872;5022200;5037552;5109281 AL034282;D11S3114;D1S1425;D8S2278;D8S2279;G16275;L18426;REN67335;RH68768;RH69585;RH69812;RH78635;SHGC-32839;STS-H29771;WI-13539;sY3084 ATF6A;DKFZp686P2194;FLJ21663 ATF6-alpha;OTTHUMP00000025585;activating transcription factor 6 alpha;cAMP-dependent transcription factor ATF-6 alpha;cyclic AMP-dependent transcription factor ATF-6 alpha APPROVED protein-coding ENSG00000118217 HGNC:791 16118 605537 REVIEWED 1314412 ATF7IP activating transcription factor 7 interacting protein ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010] 12 12 12 p13.1 19663702 19796793 + 14518566 14655864 + 14365632 14502935 + 6480464;8554872 10777215;10976766;12477932;12659632;12665582;12812986;14536086;14702039;15231748;15489334;15691849;16314315;16344560;16757475;17081983;18029348;18842587;19106100;19394292;19471022;20543847;20549333;20936779;21139048;21693764;21890473;21906983;21963094;21987572;21988832;22939629;23000965;23359319;23666240;23935871;24143190;24250222;24464130;24816145 55729 A8MV73;B3KNI7;B3KQF8;F5GYR7;F5GZ10;F5GZ98;F5H1K9;F5H221;F5H2H9;F5H2W9;F5H3C4;F5H502;F5H592;F5H6X8;F5H8I0;F8WE35;H0YFA3;Q6VMQ6 ABBA01067875;ABBA01067876;ABBA01067877;AC007782;AC008114;AC124892;AF425650;AJ242978;AK001001;AK001550;AK025060;AK027575;AK074868;AK125103;AK299320;AK304184;AMYH02026092;AY337596;BC037312;BC053625;BC063855;BX648096;CH471094;DA194386;DC377662;NM_001286514;NM_001286515;NM_018179;NM_181352;XM_005253424;XM_006719108;XM_006719109 AAH37312;AAH63855;AAO91864;AAQ92978;BAA91751;BAG51349;BAG52020;BAG61328;BAG65064;CAB45135;EAW96314;EAW96315;EAW96316;EAW96317;EAW96318;EAW96319;EAW96320;NP_001273443;NP_001273444;NP_060649;NP_851997;Q6VMQ6;XP_005253481;XP_006719171;XP_006719172 Hs.504856;Hs.591151 1644517;1645822;1646356;1655348;1680978;1700440;1725997;1725999;1726051;2217042;5016478 1552;ATF7IP_3606;G41306;G62274;G62275;G62288;GDB:434012;RH103841;RH93222;WI-17556;WI-17987 AM;ATF-IP;FLJ10139;FLJ10688;MCAF;MCAF1;hAM;p621 ATF-interacting protein;ATF7-interacting protein;ATFa-associated modulator;MBD1-containing chromatin associated factor;MBD1-containing chromatin-associated factor 1;OTTHUMP00000239135;OTTHUMP00000239136;OTTHUMP00000239143;OTTHUMP00000239647;activating transcription factor 7-interacting protein 1 APPROVED protein-coding ENSG00000171681 HGNC:20092 09811 613644 VALIDATED 6481023 ATG10-IT1 ATG10 intronic transcript 1 (non-protein coding) q14.1 100874311 AC114969 ncrna HGNC:41455 6481370 ATG10-AS1 ATG10 antisense RNA 1 q14.1 10737800 100874022 AC114969;BE061092 APPROVED ncrna HGNC:40914 1314578 ATF7IP2 activating transcription factor 7 interacting protein 2 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH ciglitazone; copper(2+) sulfate; paracetamol 16 16 16 p13.13 10690093 10744829 + 10479912 10577495 + 10386055 10483638 + 6480464;8554872 12477932;14702039;15489334;15691849;18029348;20195266;8125298 80063 B4DKH3;F5GY73;H3BNE6;H3BPC9;H3BR07;H3BUP1;I3L4M8;Q5U623 ABBA01006791;ABBA01006792;ABBA01006793;AC131649;AK022730;AK093414;AK223492;AK296565;AK299040;AL832987;AMYH02031445;AMYH02031446;AMYH02031447;AY560615;BC033891;BC069695;BC069713;BC069730;BC137079;BC144468;BI459223;CH471112;KF456162;NM_001256160;NM_024997;NR_045815;NR_045816;XM_006720953;XM_006720954 AAH33891;AAH69695;AAH69713;AAH69730;AAI37080;AAT66299;BAB14209;BAC04157;BAD97212;BAG59185;BAG61114;CAH56323;EAW85183;EAW85184;NP_001243089;NP_079273;Q5U623;XP_006721016;XP_006721017 Hs.513343;Hs.742019 1338142;1696380;2154482;2157827;2184105;2184474;5109362 D16S3215;D16S446;D17S1239;RH68741;SGC34713;SHGC-60831;SHGC-77832 FLJ12668;MCAF2 ATF7-interacting protein 2;MBD1-containing chromatin associated factor 2;MBD1-containing chromatin-associated factor 2;OTTHUMP00000160167;OTTHUMP00000160168;activating transcription factor 7-interacting protein 2 protein-coding ENSG00000166669 HGNC:20397 16517 613645 VALIDATED 1602213 ATG101 autophagy related 101 ENCODES a protein that exhibits identical protein binding; protein complex binding; INVOLVED IN autophagic vacuole assembly; FOUND IN pre-autophagosomal structure; INTERACTS WITH copper(2+) sulfate; cyclosporin A; diazinon 12 12 12 q13.13 51266432 51273953 + 52463758 52471279 + 52069974 52077495 + 6480464 12477932;14702039;15342556;16712791;19287211;19597335;20562859;21139048;21900206;21906983;21963094;21988832;23000965;23640897;24100292 60673 F8VQD9;F8VVA0;H3BMZ4;Q9BSB4 ABBA01031626;AC025259;AF218031;AK021835;AMYH02026499;BC005151;BC009937;BP309508;CB137838;CH471111;NM_001098673;NM_021934 AAG17273;AAH05151;AAH09937;BAB13907;EAW58229;EAW58230;NP_001092143;NP_068753;Q9BSB4 Hs.9911 2134075;2168807 D12S1180E;D12S2008 C12orf44;FLJ11773 Atg13-interacting protein;OTTHUMP00000241687;OTTHUMP00000241688;OTTHUMP00000241689;autophagy-related protein 101 APPROVED protein-coding ENSG00000123395 HGNC:25679 08566 615089 VALIDATED 1351458 ATG10 autophagy related 10 Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008] 5 5 5 q14.1 77171858 77456206 + 81267844 81551958 + 81972025 82256139 + 1580863;1643329;4889529;6480464;8554872 15325588;20034776 11076863;11230166;11256614;12477932;12482611;12890687;14702039;15489334;15489336;15498874;15657430;16381901;16963840;17256008;17353931;20379614;20562859;23285162;23850577;24250222;2890687;8125298 83734 D6RBD1;D6RC89;D6RDX3;Q9H0Y0 ABBA01062064;ABBA01062065;ABBA01062066;ABBA01062067;ABBA01062068;ABBA01062069;ABBA01062070;AC010598;AC106824;AC114969;AF318326;AI436652;AK024016;AK225969;AK315752;AL136912;AMYH02011692;AMYH02011693;AMYH02011694;AMYH02011695;BC004551;BC027718;BC029268;CH471084;NM_001131028;NM_031482;XM_005248610;XM_005248611;XM_005248612 AAH29268;AAL55833;ABM83358;ABM86570;BAB14778;BAG38106;CAB66846;CAL38733;EAW95881;EAW95882;EAW95883;EAW95884;EAW95885;EAW95886;NP_001124500;NP_113670;Q9H0Y0;XP_005248667;XP_005248668;XP_005248669 Hs.713698 1338292;1695588;1731291;2116239;5017433;5020635 D5S2029;D5S253;D5S806;D7S3207;SHGC-68947;STS-T76997 APG10;APG10L;DKFZp586I0418;FLJ13954;pp12616 APG10 autophagy 10-like;APG10-like;ATG10 autophagy related 10 homolog;OTTHUMP00000147582;OTTHUMP00000222340;apg10 autophagy 10-like (s. cerevisiae);autophagy-related protein 10;ubiquitin-like-conjugating enzyme ATG10 APPROVED protein-coding ENSG00000152348 HGNC:20315 16497 610800 VALIDATED 1314851 ATG12 autophagy related 12 Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008] 5 5 5 q21-q22 111112297 111125961 - 115163893 115177548 - 115828196 115841851 - 1580863;1643329;2301217;4889529;6480464;6907045 15325588;18059433;20034776 11096062;11825910;11890701;12207896;12477932;12482611;12665549;12890687;14702039;15146197;15342556;15489334;15778222;16189514;16344560;17353931;17457038;18187620;19124466;19197948;19901552;20417604;20562859;20723759;21139048;21241894;21832049;21906983;22152474;22170153;22342342;23202584;23307622;24186333;24727585;8889548;9490301;9852036 9140 C1IDX9;D6RB14;H0Y9W4;H0YA29;H7BYD7;O94817 AB002440;AB002449;AB017507;ABBA01069029;AC026449;AK098251;AK313320;AL161968;AMYH02012009;BC011033;BC012266;BM697565;BP335591;BX327373;CB995198;CH471086;CN400030;CR978239;DA005347;DB048378;DB530852;EU554057;NM_001277783;NM_004707;NR_033362;NR_033363;NR_073603 AAH11033;AAH12266;ACD74941;BAA36493;BAG36125;EAW48954;EAW48955;EAW48956;NP_001264712;NP_004698;O94817 Hs.264482 1657408;1675271;1686130;1690103;2119656;2174000;5015861;5016596;7185938 D10S16;GDB:631802;RH68562;RH79593;RH91208;STS-N35906;WI-14939;WI-15770 APG12;APG12L;FBR93;HAPG12 APG12 autophagy 12-like;APG12-like;ATG12 autophagy related 12 homolog;Apg12 (autophagy, yeast) homolog;OTTHUMP00000159129;apg12 autophagy 12-like (s. cerevisiae);autophagy-related protein 12;ubiquitin-like protein ATG12 APPROVED protein-coding ENSG00000145782 HGNC:588 08496 609608 VALIDATED 2293247 ATG12P1 autophagy related 12 pseudogene 1 17 17 17 q25.1 67646673 67647431 - 71063693 71064451 - 73067554 73068312 - 20723759 100151642 ABBA01028877;AC025198;AMYH02033955;NG_007656 1686130 RH91208 ATG12P APPROVED pseudo HGNC:21466 INFERRED 1312148 ATG14 autophagy related 14 INVOLVED IN autophagic vacuole assembly; endosome to lysosome transport; PARTICIPATES IN autophagy pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN autophagic vacuole; cytoplasm; extrinsic component of omegasome membrane; INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; bisphenol A; cobalt dichloride 14 14 14 q22.3 35882502 35927962 - 55833109 55878576 - 55366391 55411858 - 4889529;6480464;8554872 20034776 10048485;12477932;14702039;15489334;16751776;17081983;18843052;19050071;19270696;19322201;19460752;20562859;20711182;20713597;21241894;21906983;22314358;22797916;22797925;22992773;23197835;23262492;23878393;24337183;24980959;24980960 22863 Q6ZNE5 AA988343;ABBA01018207;AK131251;AK292810;AL049978;AL158801;AL356801;AMYH02029236;AMYH02029237;AMYH02029238;AMYH02029239;BC028015;BC109089;BC109090;BR000826;CH471061;HI573906;NM_014924 AAI09090;AAI09091;BAD18430;BAF85499;CBX47442;EAW80672;EAW80673;EAW80674;FAA00433;NP_055739;Q6ZNE5 Hs.414809 1647662;1698948;1774840;2149888;2166421;2166603;2166882;5014057;5022578;5024761;5093948;5096107 A009Z21;D1S1423;D1S3699;G33017;G35363;G35867;RH103043;RH36905;RH64855;RH68681;SHGC-33813;SHGC-52499 ATG14L;KIAA0831;MGC126291;MGC126292 ATG14 autophagy related 14 homolog;Barkor;Beclin 1-Interacting protein;autophagy-related protein 14-like protein;beclin 1-associated autophagy-related key regulator APPROVED protein-coding ENSG00000126775 HGNC:19962 13820 613515 VALIDATED 4888931 ATG12P2 autophagy related 12 pseudogene 2 2 2 2 217532130 217535532 - 223766382 223769777 - 222901664 222905059 - 9847074 100293948 ABBA01023806;AC013476;AMYH02005870;AMYH02005871;NG_016651 2144811 A008B44 APPROVED pseudo HGNC:38605 INFERRED 1602498 ATG13 autophagy related 13 ENCODES a protein that exhibits protein kinase binding; INVOLVED IN autophagic vacuole assembly; PARTICIPATES IN mTOR signaling pathway; autophagy pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN ULK1-ATG13-FIP200 complex; pre-autophagosomal structure (ortholog); INTERACTS WITH cyclosporin A; elemental selenium; selenium atom 11 11 11 p11.2 46786959 46844582 + 46638826 46697569 + 46617276 46676019 + 4889529;6480464;6484113;8554872 20034776 12107413;12477932;14702039;15489334;16196087;16344560;17204848;17207965;18936157;19211835;19225151;19258318;19287211;19597335;19690328;20562859;20694011;21460630;21475306;21832049;21900206;21976705;23043107;23262492;23524951;24100292;24290141;25040165;8125298;8619474;9110174;9734811 9776 A8K0S6;E9PPR2;H0YCL5;H0YDR0;H0YEM7;H0YF43;J3KRU6;J3KST9;J3QLH7;J3QQM8;J3QR16;J3QR83;J3QRL1;J9JIF6;O75143 AB014552;ABBA01060733;ABBA01060734;ABBA01060735;ABBA01060736;AC115088;AC127035;AF052175;AK000705;AK023867;AK223603;AK289641;AK293109;AK294110;AK296526;AK315925;AMYH02024709;AMYH02024710;AMYH02024711;BC001331;BC002378;BC006191;CD675643;CH471064;DA195671;NM_001142673;NM_001205119;NM_001205120;NM_001205121;NM_001205122;NM_014741;XM_005253262;XM_005253263;XM_005253265;XM_005253266;XM_005253268;XM_006718394;XM_006718395;XM_006718396 AAH01331;AAH02378;AAH06191;ACT64495;ACT64496;ADQ32740;BAA31627;BAB14707;BAD97323;BAF82330;BAF85798;BAG57445;BAG59157;BAH14296;EAW67985;EAW67986;EAW67987;EAW67988;EAW67989;EAW67990;EAW67991;NP_001136145;NP_001192048;NP_001192049;NP_001192050;NP_001192051;NP_055556;O75143;XP_005253319;XP_005253320;XP_005253322;XP_005253323;XP_005253325;XP_006718457;XP_006718458;XP_006718459 Hs.127403 1737711;2123023;2161887;2163649 D11S2311E;D11S3306;RH15977;T16117 FLJ20698;KIAA0652;PARATARG8 ATG13 autophagy related 13 homolog;OTTHUMP00000233321;OTTHUMP00000233322;OTTHUMP00000233323;OTTHUMP00000233324;OTTHUMP00000233325;OTTHUMP00000233326;autophagy-related protein 13 APPROVED protein-coding ENSG00000175224 HGNC:29091 13809 615088 VALIDATED 1606757 ATG16L2 autophagy related 16-like 2 (S. cerevisiae) INVOLVED IN autophagy (inferred); negative stranded viral RNA replication (inferred); protein transport (inferred); PARTICIPATES IN autophagy pathway; FOUND IN nucleus; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 11 11 11 q13.4 69829970 69845200 + 72525451 72553793 + 72814406 72842676 + 1643329;4889529;6480464 15325588;20034776 11214971;12477932;14702039;18187620;21900206;23266558;23439083;23563314;23850713 89849 F5GWM4;F5GWZ9;F5H7B6;H0YF72;H0YFC3;H0YFG0;H0YFZ7;H0YG45;H0YG67;H0YGE3;H0YGJ8;Q8NAA4;Q9H7Q5 ABBA01017531;AK024423;AK090597;AK091151;AK093017;AK303270;AL832974;AMYH02025080;AP002381;BC036713;BC069189;BC108672;BC137489;BC137490;BC142718;BC146660;BQ929430;CH471076;NM_033388;XM_005274376;XM_005274378;XM_006718732;XM_006718733;XM_006718734;XR_428929 AAH36713;AAI08673;AAI37490;AAI37491;AAI42719;AAI46661;BAB15713;BAC03485;BAC04021;BAG64352;CAH56355;EAW74874;EAW74875;EAW74876;EAW74877;EAW74878;EAW74879;NP_203746;Q8NAA4;XP_005274433;XP_005274435;XP_006718795;XP_006718796;XP_006718797 Hs.653186 2136130;2182016;5091717 G30987;RH45037;SGC32787 ATG16B;FLJ00012;WDR80 APG16-like 2;ATG16 autophagy related 16-like 2;OTTHUMP00000237478;OTTHUMP00000237485;OTTHUMP00000237486;OTTHUMP00000237487;WD repeat-containing protein 80;autophagy-related protein 16-2 APPROVED protein-coding ENSG00000168010 HGNC:25464 10959 VALIDATED 2289735 ATG3P1 autophagy related 3 pseudogene 1 20 20 20 q12 34668259 34669404 - 37957498 37958643 - 39328855 39330000 - 100135756 ABBA01052540;AL121588;AMYH02037069;AY392024;NG_007378 AGP3;ATG3P;dJ54G6.1 APPROVED pseudo HGNC:31123 INFERRED 1353416 ATG3 autophagy related 3 This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 3 3 3 q13.2 110660041 110689158 - 112251354 112280810 - 112532507 112561963 - 737633;1580863;1643237;1643329;4889529;6480464;6907045 12477932;15325588;17110912;20034776 11825910;14702039;15144186;15355958;15489334;15592455;16303767;16704426;17353931;19342671;19838173;19932681;20061800;20562859;20697744;20723759;21139048;21906983;22053931;22505724;22644571;22863883;23119048;23824909;23829686;24023838;24186333;24191030;24654937;24747438;24816145 64422 C9JNW8;F8WDI0;Q9NT62 AA448974;AB079384;ABBA01061663;AC092692;AF202092;AK025778;AK307432;AK308919;AL137515;AMYH02007442;AW408464;BC002830;BC024221;BC043267;CH471052;DC311625;NM_001278712;NM_022488 AAG35611;AAH02830;AAH24221;ABM84350;ABM87773;BAB15237;BAB90843;CAB70781;EAW79668;EAW79669;EAW79670;EAW79671;NP_001265641;NP_071933;Q9NT62 Hs.477126 1660425;1715573;2119998;2165768;2165770 A006E19;G20743;GDB:372310;RH120928;WI-22015 APG3;APG3-LIKE;APG3L;DKFZp564M1178;FLJ22125;MGC15201;PC3-96;hApg3 2610016C12Rik;APG3 autophagy 3-like;ATG3 autophagy related 3 homolog;OTTHUMP00000214547;OTTHUMP00000214548;apg3 autophagy 3-like (s. cerevisiae);autophagy Apg3p/Aut1p-like;autophagy-related protein 3;ubiquitin-like-conjugating enzyme ATG3 APPROVED protein-coding ENSG00000144848 HGNC:20962 10654 609606 REVIEWED 1321647 ATG16L1 autophagy related 16-like 1 (S. cerevisiae) The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010] 2 2 2 q37.1 227881745 227925836 + 234160217 234204320 + 233251571 233295674 + 1643329;4889529;6480464;7240710 15325588;20034776 11181995;12477932;12665549;12975309;14702039;14743216;15489334;15620219;16344560;17200669;17353931;17435756;17455206;17484864;17534574;17554300;17625155;17894849;17921695;18047540;18088053;18162085;18166373;18200510;18338763;18366306;18438406;18448665;18495612;18499543;18521914;18521924;18587394;18671817;18698678;18715515;18824555;18849966;18852889;18985712;19120485;19139628;19174780;19235913;19262523;19269148;19276991;19322201;19334001;19337756;19422935;19491842;19575361;19590455;19659808;19683022;19760754;19783656;19898471;20014019;20024904;20066736;20082483;20222171;20380008;20395867;20417604;20485703;20562859;20570966;20637199;20639872;20697744;20722066;20839241;20846217;20875485;20886065;20962850;21072187;21102463;21206965;21406388;21513755;21618365;21674723;21734790;21832049;21879234;21890473;21987459;22275320;22302078;22342342;22346247;22370477;22412388;22573572;22863883;22885761;22936669;23128233;23202584;23262492;23300079;23376921;23434281;23439083;23512522;23633462;23850724;23964099;24022642;24036151;24076061;24086718;24100292;24238340;24413169;24553140;24563254;24816145;25027693 55054 C9J1B2;C9J8C6;C9JAY7;C9JK97;E7EVC7;F8WAF9;Q17RG0;Q53SV2;Q676U5 AA809053;ABBA01001947;AC013726;AK000897;AK001690;AK024453;AK026330;AK027854;AK074434;AK123876;AK308400;AL834526;AMYH02006003;AY358182;AY398617;BC000061;BC006253;BC013411;BC071846;BC117337;BC143900;BG702756;CH471063;DB084962;DB474638;EF079889;EF079890;EF560734;JQ924062;NG_023038;NM_001190266;NM_001190267;NM_017974;NM_030803;NM_198890;XM_005246082;XM_005246084;XM_005246086;XM_006712608;XR_241242 AAH71846;AAI17338;AAI43901;AAQ88549;AAR32130;AAY14860;ABN48554;ABN48555;ABQ59044;AGC52704;BAA91413;BAB15448;BAB15743;BAB55412;BAB85082;BAC85713;CAD39182;EAW71033;EAW71034;EAW71035;EAW71036;EAW71037;EAW71038;EAW71039;EAW71040;NP_001177195;NP_001177196;NP_060444;NP_110430;NP_942593;Q676U5;XP_005246139;XP_005246141;XP_005246143;XP_006712671 Hs.529322 2109049;2111340;2114299;2165384;7184972 APG16L_9868;D2S1507E;WI-11277;WI-12735 APG16L;ATG16A;ATG16L;FLJ00045;FLJ10035;FLJ10828;FLJ22677;IBD10;WDR30 APG16L beta;ATG16 autophagy related 16-like 1;OTTHUMP00000164391;OTTHUMP00000164393;OTTHUMP00000165876;OTTHUMP00000165877;WD repeat domain 30;apg16 autophagy 16-like (s. cerevisiae);autophagy-related protein 16-1 APPROVED protein-coding ENSG00000085978 HGNC:21498 16498 610767;611081 REVIEWED 1348604 ATG4D autophagy related 4D, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 19 19 19 p13.2 10549363 10558810 + 10654570 10664099 + 10543894 10553423 + 1580863;1643329;6480464;6907045 15325588 12446702;12477932;14702039;15489334;17207965;19549685;21906983;22441018;23508006;8125298;8889548 84971 B4DGM8;K7EJA5;K7EKP6;K7EMB9;K7EN30;K7EP43;K7EPJ0;K7EQ67;K7EQN3;K7ERK1;K7ESM7;Q86TL0 ABBA01029914;ABBA01029915;AC011461;AJ312332;AK056210;AK223383;AK294676;AK314712;AK316454;AMYH02035498;BC007639;BC016845;BC068992;BM671285;CH471106;HY063028;NM_001281504;NM_032885;NR_104024;NR_104025;XM_006722927 AAH07639;AAH16845;AAH68992;ADQ32084;ADZ15779;BAB71121;BAD97103;BAG57839;BAH14825;CAC85951;EAW84116;EAW84117;EAW84118;EAW84119;NP_001268433;NP_116274;Q86TL0;XP_006722990 Hs.512799 1676344 RH94334 APG4-D;APG4D;AUTL4 APG4 autophagy 4 homolog D;ATG4 autophagy related 4 homolog D;AUT-like 4 cysteine endopeptidase;AUT-like 4, cysteine endopeptidase;apg4 autophagy 4 homolog d (s. cerevisiae);autophagin-4;autophagy-related cysteine endopeptidase 4;autophagy-related protein 4 homolog D;cysteine protease ATG4D;cysteine protease involved in autophagy APPROVED protein-coding ENSG00000130734 HGNC:20789 07005 611340 REVIEWED 1604391 ATG2A autophagy related 2A INVOLVED IN autophagy (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN lipid particle (inferred); INTERACTS WITH quercetin; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q13.1 61988071 62010793 - 64662004 64684722 - 64894532 64917250 - 6480464;8554872 12477932;19615732;20379614;20562859;21887408;22219374;24250222;9253601;9455477 23130 H7C3T2;Q2TAZ0 AB007864;ABBA01024139;AI638563;AK126181;AK300925;AK307684;AMYH02024946;AP001187;BC008593;BC027481;BC033850;BC053596;BC110650;BC113090;BC113091;CH471076;NM_015104;XM_005273849;XM_005273850 AAH08593;AAH27481;AAH53596;AAI10651;AAI13091;AAI13092;BAA23700;BAC86477;BAG62557;EAW74323;NP_055919;Q2TAZ0;XP_005273906;XP_005273907 Hs.370671 1770123;1799092;1799894;1801010;1801558;1802104;1802216;1802278;1802892;1803546;1803690;1806616;1806672;1812146;1816734;1817786;1818720;1818780;1828942;1829670;1833570;1837286;1840192;1841540;1843784;1972016;1972018;1972020;1972022;1972024;1972026;1972028;1972030;1972032;1972034;1972036;1972038;1972040;1972042;1972044;1972046;1972048;1972050;1972052;1972054;1972056;1972058;1972060;1972062;1972064;1972066;1972068;1972070;1972072;1972074;1972076;1972078;1972080;1972082;1972084;1972086;1972088;1972090;1972092;1972094;1972096;1972098;1972100;1972102;1972104;1972106;1972108;1972110;1972112;1972114;1972116;1972118;1972120;1972122;1972124;1972126;1972128;1972130;1972132;1972134;1972136;1972138;1972140;1972142;1972144;1972146;1972148;1972150;1972152;1972154;1972156;1972158;1972160;1972162;1972164;1972166;1972168;1972170;1972172;1972174;1972176;1972178;1972180;1972182;1972184;1972186;1972188;1972190;1972192;1972194;1972196;1972198;1972200;1972202;1972204;1972206;1972208;1972210;1972212;1972214;2136970;5014577;5015619;5015810;5015961;5037552;7187403 D11S3114;D11S4940;D15S1477;D8S2279;ECD00392;ECD00801;ECD01371;ECD01657;ECD01934;ECD01991;ECD02023;ECD02335;ECD02674;ECD02751;ECD04265;ECD04293;ECD07078;ECD09411;ECD09947;ECD10424;ECD10454;ECD15598;ECD15967;ECD17928;ECD19810;ECD21280;ECD21967;ECD23103;G33103;GDB:182516;REN56893;REN56894;REN56895;REN56896;REN56897;REN56898;REN56899;REN56900;REN56901;REN56902;REN56903;REN56904;REN56905;REN56906;REN56907;REN56908;REN56909;REN56910;REN56911;REN56912;REN56913;REN56914;REN56915;REN56916;REN56917;REN56918;REN56919;REN56920;REN56921;REN56922;REN56923;REN56924;REN56925;REN56926;REN56927;REN56928;REN56929;REN56930;REN56931;REN56932;REN56933;REN56934;REN56935;REN56936;REN56937;REN56938;REN56939;REN56940;REN56941;REN56942;REN56943;REN56944;REN56945;REN56946;REN56947;REN56948;REN56949;REN56950;REN56951;REN56952;REN56953;REN56954;REN56955;REN56956;REN56957;REN56958;REN56959;REN56960;REN56961;REN56962;REN56963;REN56964;REN56965;REN56966;REN56967;REN56968;REN56969;REN56970;REN56971;REN56972;REN56973;REN56974;REN56975;REN56976;REN56977;REN56978;REN56979;REN56980;REN56981;REN56982;REN56983;REN56984;REN56985;REN56986;REN56987;REN56988;REN56989;REN56990;REN56991;REN56992;RH65343 KIAA0404;MGC117153 ATG2 autophagy related 2 homolog A;OTTHUMP00000069743;OTTHUMP00000069745;autophagy-related protein 2 homolog A APPROVED protein-coding ENSG00000110046 HGNC:29028 17186 VALIDATED 1604759 ATG4A autophagy related 4A, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2008] X X X q22.1-q22.3 107806406 107869363 + 107334899 107397901 + 108091669 108154671 + 1643329;6480464;6907045 15325588 12446702;12473658;12477932;14702039;15169837;15489334;15772651;17207965;17347651;20010802;20819778;21122541;21177865;21297227;23508006;24100292 115201 F8W7J2;G5E979;H7BYM2;Q8WYN0 AA648264;AB066214;ABBA01035973;ABBA01035974;ABBA01035975;ABBA01035976;ABBA01035977;ABBA01035978;ABBA01035979;ABBA01035980;AJ320508;AJ320509;AJ504651;AK054927;AK123287;AK293533;AK314429;AL031177;AMYH02040220;BC041862;BC061696;BM541631;CH471120;NM_052936;NM_178270;XM_005262064 AAH41862;AAH61696;ADQ32188;BAB83889;BAG37044;BAG57015;CAC69076;CAC69077;CAD43218;EAX02689;EAX02690;EAX02691;EAX02692;EAX02693;EAX02694;EAX02695;EAX02696;NP_443168;NP_840054;Q8WYN0;XP_005262121 Hs.8763 1643970;1651343;1690780;1702098;1703868;1745811;1757433;1857382;1857384;2124310;2174117;2174119 A006H40;AL022448;DXS7743;DXS7882;DXS8284;G20822;GDB:642223;RH26790;RH36508;SHGC-144818;SHGC-79051;WI-18722 APG4A;AUTL2;hAPG4A APG4 autophagy 4 homolog A;ATG4 autophagy related 4 homolog A;AUT-like 2 cysteine endopeptidase;AUT-like 2, cysteine endopeptidase;OTTHUMP00000023821;OTTHUMP00000023822;OTTHUMP00000023825;autophagin 2;autophagin-2;autophagy-related cysteine endopeptidase 2;autophagy-related protein 4 homolog A;cysteine protease ATG4A APPROVED protein-coding ENSG00000101844 HGNC:16489 06455 300663 REVIEWED 1317140 ATG4C autophagy related 4C, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p31.3 61538646 61618912 + 63249777 63330941 + 62784106 62865270 + 1643329;6480464;6907045 15325588 12446702;12477932;14702039;15489334;16344560;17442669;18029348;18193044;20562859;20966902;21139048;22248718;23000965;8889548 84938 A6NGQ4;C9JC51;H7BZW5;Q96DT6 ABBA01074582;ABBA01074583;ABBA01074584;ABBA01074585;AC099794;AC103923;AC119425;AJ312234;AJ320169;AK027773;AMYH02001143;AMYH02001144;BC008395;BC018678;BC033024;BI518482;BM146035;BM720875;BQ777265;CH471059;DB183325;NM_032852;NM_178221;XM_005271288 AAH18678;AAH33024;ABM83408;ABM86619;BAB55356;CAC43939;CAC85556;EAX06579;EAX06580;NP_116241;NP_835739;Q96DT6;XP_005271345 Hs.7353 1338928;1653001 D1S2835;SHGC-31906 APG4-C;APG4C;AUTL1;AUTL3;FLJ14867 APG4 autophagy 4 homolog C;ATG4 autophagy related 4 homolog C;AUT-like 1, cysteine endopeptidase;AUT-like 3 cysteine endopeptidase;OTTHUMP00000010714;OTTHUMP00000010715;apg4 autophagy 4 homolog c (s. cerevisiae);autophagin-3;autophagy-related cysteine endopeptidase 3;autophagy-related protein 4 homolog C;cysteine protease ATG4C APPROVED protein-coding ENSG00000125703 HGNC:16040 07473 611339 REVIEWED 1320126 ATG4B autophagy related 4B, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 236248753 236285072 + 242576775 242613272 + 241637360 241673857 + 1643329;6480464;6907045 15325588 10231032;11076863;11230166;12446702;12477932;14702039;15169837;15187094;15355958;15489334;15489336;16169070;16183633;16325851;16381901;16704426;17081983;17353931;18387192;19322194;19615732;20010802;20562859;21139048;21177865;21900206;21906983;22674379;22939629;23508006;23535732;23824909;24023838;24755409;25027693 23192 B3KVU2;C9J1C1;C9J3C0;C9JIK8;C9JQ72;C9JVD5;F2Z2K8;H0Y2Y0;H7C2A6;Q9Y4P1 AB023160;AB066215;ABBA01006062;AC133528;AJ504652;AK027332;AK027462;AK027763;AK123425;AK125277;AK296818;AK298109;AK302963;AK316167;AL050288;AL080168;AL133638;AMYH02006115;AMYH02006116;BC000719;BX648007;CH471063;NM_013325;NM_178326;XM_005246992;XM_005246993;XM_005246995;XM_005246996;XM_006712371 AAH00719;AAY14919;ABM82795;BAA76787;BAB55042;BAB55127;BAB55353;BAB83890;BAC86110;BAG53904;BAG59391;BAG60394;BAG64112;BAH14538;CAB45756;CAD43219;CAH56198;CAL38626;EAW71278;EAW71279;EAW71280;EAW71281;NP_037457;NP_847896;Q9Y4P1;XP_005247049;XP_005247050;XP_005247052;XP_005247053;XP_006712434 Hs.283610 1677670;1779182;1856673;2135704;2184858;5126716 A008U23;D2S2042;RH35842;RH47370;SHGC-34535;WI-17974 APG4B;AUTL1;MGC1353;hAPG4B APG4 autophagy 4 homolog B;ATG4 autophagy related 4 homolog B;AUT-like 1 cysteine endopeptidase;OTTHUMP00000200147;OTTHUMP00000200148;OTTHUMP00000200150;apg4 autophagy 4 homolog b (s. cerevisiae);autophagin-1;autophagy-related cysteine endopeptidase 1;autophagy-related protein 4 homolog B;cysteine protease ATG4B APPROVED protein-coding ENSG00000168397 HGNC:20790 16499 611338 REVIEWED 1312572 ATG2B autophagy related 2B ASSOCIATED WITH Melanoma (inferred); FOUND IN lipid particle (inferred); INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; paracetamol 14 14 14 q32.2 76803312 76885404 - 96747595 96829678 - 96281258 96363341 - 6480464;8554872 12477932;12508121;14702039;15028280;15489334;19197948;20562859;22219374;22350415;23752268 55102 Q96BY7 ABBA01048595;AK001104;AK055200;AK123451;AK128275;AK302641;AL133095;AL355102;AL359240;AMYH02029802;AMYH02029803;BC015016;BC015851;BU101822;BU166120;BU167202;CH471061;NM_018036;XM_006720187 AAH15016;BAA91504;BAB70872;BAC87363;BAG63882;EAW81633;NP_060506;Q96BY7;XP_006720250 Hs.168241 1644343;1669230;1696256;1705618;1715661;1847157;1848777;2164197 A006S30;G09667;RH119276;RH47969;RH70020;SHGC-83311;SHGC-83632;WI-14378 C14orf103;FLJ10242 ATG2 autophagy related 2 homolog B;OTTHUMP00000195210;autophagy-related protein 2 homolog B APPROVED protein-coding ENSG00000066739 HGNC:20187 12626 VALIDATED 1353398 ATG5 autophagy related 5 INVOLVED IN autophagic vacuole assembly (ortholog); autophagy (ortholog); post-translational protein modification (ortholog); PARTICIPATES IN autophagy pathway; Retinoic acid-inducible gene (RIG) I-like receptor signaling pathway; Shigella infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN autophagic vacuole; membrane; axoneme (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 3-methyladenine; aflatoxin B1 6 6 6 q21 107253905 107395251 - 106632351 106773695 - 106184476 106325820 - 1580863;4889529;2301217;6480464;6907045;8554872 18059433;20034776 10702672;11096062;11266458;11349150;11725643;11825910;12207896;12417306;12477932;12482611;12665549;12703993;12890687;14574404;14702039;15292400;15342556;15489334;15778222;16341674;17207965;17353931;18296641;18353420;18448665;19066443;19124466;19148225;19194464;19197948;19322201;19375507;19783847;19838193;19881538;19901552;20038797;20190558;20379614;20417604;20529838;20562859;20580051;20639872;20697744;20962850;21068098;21139048;21241894;21622776;21655094;21664058;21722286;21795849;21906983;21976705;21995634;22040493;22052905;22170153;22342342;22536318;22863883;22993366;23075929;23202584;23235332;23242420;23262492;23273568;23317196;23322078;23384565;23429496;23486359;23740937;23945651;23997112;24027027;24186333;24205307;24250222;24269628;24324106;24390342;24727585;7796880;9563500;9852036 9474 A9UGY9;Q7Z3H3;Q9H1Y0 ABBA01026199;ABBA01026200;ABBA01026201;ABBA01026202;AF293841;AK001899;AK299577;AK315800;AL022067;AL133509;AL138917;AMYH02014238;BC002699;BC093011;BM831472;BP297166;BX537904;CH471051;CR749386;EU283338;EU283339;HY168998;JQ918353;JQ918354;JQ924061;NM_001286106;NM_001286107;NM_001286108;NM_001286111;NM_004849;NR_104402;NR_104403;Y11588 AAG44955;AAH02699;AAH93011;ABX79918;ADQ32477;AGC52701;AGC52702;AGC52703;BAG50990;BAH13072;CAA72327;CAD97890;CAH18236;EAW48414;EAW48415;EAW48416;EAW48417;EAW48418;NP_001273035;NP_001273036;NP_001273037;NP_001273040;NP_004840;Q9H1Y0 Hs.486063 1674504;1685261;2159055;2185577;2190575 EST6B12;RH78069;RH93335;STS-N94345;WI-20363 APG5;APG5-LIKE;APG5L;ASP;hAPG5 APG5 (autophagy 5, S. cerevisiae)-like;APG5 autophagy 5-like;ATG5 autophagy related 5 homolog;ATG5 autophagy related 5-like;OTTHUMP00000017823;OTTHUMP00000017824;OTTHUMP00000017825;apg5 autophagy 5-like (s. cerevisiae);apoptosis specific protein;apoptosis-specific protein;autophagy protein 5 APPROVED protein-coding ENSG00000057663 HGNC:589 16051 604261 VALIDATED 1312481 ATG7 autophagy related 7 This gene was identified based on homology to Pichia pastoris GSA7 and Saccharomyces cerevisiae APG7. In the yeast, the protein appears to be required for fusion of peroxisomal and vacuolar membranes. The protein shows homology to the ATP-binding and catalytic sites of the E1 ubiquitin activating enzymes. [provided by RefSeq, Jan 2009] 3 3 3 p25.3 11249448 11534544 + 11314010 11599139 + 11272324 11557665 + 1580863;1643329;1643198;4889529;6480464;6907045;8554872 15325588;17665967;20034776 10233149;11096062;11825910;11890701;12477932;12482611;12890687;15342556;15355958;15489334;16303743;16303767;16344560;16704426;18029348;18187620;18296641;18688877;19124466;19148225;19635843;19881538;20083906;20195357;20379614;20543840;20562859;20697744;21139048;21274862;21655094;21832049;21903422;21963094;22170151;22499945;22622204;22674379;22863883;22927446;23295909;23386620;23527187;23640897;23824909;23894380;24023838;24068947;24097068;24186333;24250222;24362031;25027693 10533 C9J415;C9JE55;C9JFF4;C9JGL2;C9JKA3;C9JNU2;F8WDY9;H7BZ92;H7C059;H7C2J8;H7C2R3;H7C369;O95352 ABBA01025217;ABBA01025218;ABBA01025219;ABBA01025220;ABBA01025221;ABBA01025222;ABBA01025223;ABBA01025224;ABBA01025225;AC020750;AC022001;AC026185;AC083855;AF094516;AK075221;AK298833;AK303694;AK314504;AL122075;AMYH02006269;AMYH02006270;AMYH02006271;AMYH02006272;AMYH02006273;AMYH02006274;AMYH02006275;AMYH02006276;BC000091;BP373819;CH471055;CQ783323;DA177126;KF570275;NM_001136031;NM_001144912;NM_006395;XM_005264803;XM_006712931;XM_006712932;XM_006712933;XM_006712934;XM_006712935;XM_006712936 AAC69630;AAH00091;BAG37104;BAG52088;BAG60963;BAG64682;CAB59250;CAF86536;EAW64093;EAW64094;EAW64095;EAW64096;EAW64097;NP_001129503;NP_001138384;NP_006386;O95352;XP_005264860;XP_006712994;XP_006712995;XP_006712996;XP_006712997;XP_006712998;XP_006712999 Hs.38032 1341208;1643618;1644359;1647119;1681432;1686640;1739041;1852170;2121541;2129515;2143351;2149615;2150805;2160093;2164110;2166629;2168432;7186145 D3S1263;D3S3123;D3S3137;D3S3242;D3S3319;D3S3429;D3S3454;D3S3828;D3S4030;RH15949;RH25345;RH98571;SHGC-35171;SHGC-57938;SHGC-76706;SHGC-76717;STS-H83694 APG7-LIKE;APG7L;DKFZp434N0735;GSA7;hAGP7 APG7 autophagy 7-like;ATG12-activating enzyme E1 ATG7;ATG7 autophagy related 7 homolog;OTTHUMP00000160157;OTTHUMP00000207591;OTTHUMP00000207592;apg7 autophagy 7-like (s. cerevisiae);autophagy-related protein 7;ubiquitin activating enzyme E1-like protein;ubiquitin-activating enzyme E1-like protein;ubiquitin-like modifier-activating enzyme ATG7 APPROVED protein-coding ENSG00000197548 HGNC:16935 12293 608760 VALIDATED 1352923 ATHS atherosclerosis susceptibility (lipoprotein associated) ASSOCIATED WITH Atherosclerosis (inferred) 7240710 1731344 470 HGNC:793 108725 1604792 ATHL1 ATH1, acid trehalase-like 1 (yeast) ENCODES a protein that exhibits catalytic activity (inferred); hydrolase activity, acting on glycosyl bonds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; testosterone enanthate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 p15.5 263762 270317 - 288480 297511 + 287826 295688 + 6480464;8554872 12477932;15146197;15342556;16341674;19834535;22990118 80162 B8ZZ60;E7EMA9;H0YCL6;H3BM00;Q32M88 ABBA01011168;ABBA01011169;AC136475;AI217945;AI919161;AK026288;AK074155;AK090428;AK296137;AL832932;AMYH02024128;AMYH02024129;BC048336;BC066641;BC109257;BC109258;BM842384;BP262327;CH471278;CN298034;HG503401;NM_025092;XM_006718330;XM_006718331;XM_006718332;XM_006718333;XM_006718334;XM_006718335;XM_006718336;XR_428853;XR_428854;XR_428855;XR_428856 AAI09258;AAI09259;BAB15431;BAB84981;BAC03409;BAG58879;CAH56316;EAW61223;EAW61224;EAW61225;EAW61226;EAW61227;EAW61228;EAW61229;EAW61230;EAW61231;EAW61232;NP_079368;Q32M88;XP_006718393;XP_006718394;XP_006718395;XP_006718396;XP_006718397;XP_006718398;XP_006718399 Hs.353181 2179196 SGC34144 FLJ22635;MGC129858;MGC129859;RP11-326C3.2 OTTHUMP00000203396;OTTHUMP00000203397;OTTHUMP00000203398;acid trehalase-like protein 1 protein-coding ENSG00000142102 HGNC:26210 07999 VALIDATED 731594 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009] 2 2 2 q35 209946316 209984125 + 216176679 216214496 + 215311956 215349773 + 1599355;1580863;70804;1300048;5135488;5144054;6480464;6907045;7240710;7242561;8699517;8554872 15114530;17408934;20005278;22332074;9332377 11096114;11948179;12477932;1286667;14756553;14966129;15457444;15489334;15677700;1574589;16009940;16344560;16447238;16947783;17009228;17181924;17353931;17410198;17439323;17530705;17617058;18781797;18845790;19016697;19056867;19161160;19193698;19858780;19902562;19913121;19936946;19946888;20029029;20628086;20634891;20639865;20877624;21139048;21319273;21890473;21906983;21963094;21987572;22053931;22180458;22505724;22586326;22863883;22939629;23000965;24654937;24816145;25015289;8567683;8867801;9378707;9598063 471 C9JLK0;F2Z3E8;F8WEF0;H7BZU3;H7C084;H7C1S2;P31939;V9HWH7 AA494525;AB062403;ABBA01062788;ABBA01062789;AC073284;AK290067;AK298142;AK313066;AMYH02005746;BC008879;CH471063;D82348;D89976;DA043224;DA074758;EU794654;NG_013002;NM_004044;U37436;XM_006712545 AAA97405;AAH08879;AAY24062;ABM84188;ABM87590;ACJ13708;BAA11559;BAA21762;BAB93490;BAF82756;BAG35895;BAG60418;EAW70523;EAW70524;EAW70525;EAW70526;EAW70527;EAW70528;EAW70529;NP_004035;P31939;XP_006712608 Hs.90280 1646417;1650423;2123342 RH11837;SGC31824;WI-10220 FLJ93545;HEL-S-70p;PURH 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp;5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase;AICAR;AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme;AICARFT;AICARFT/IMPCHASE;IMPCHASE;OTTHUMP00000163981;OTTHUMP00000206773;bifunctional purine biosynthesis protein PURH;epididymis secretory sperm binding protein Li 70p;phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase APPROVED protein-coding ENSG00000138363 HGNC:794 03434 601731;608688 REVIEWED 1352093 ATL1 atlastin GTPase 1 The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q22.1 30866848 30966813 + 50999800 51099786 + 50533082 50633068 + 1580863;6480464;7240710;8554872;8699517 11685207;12112092;12387898;12477932;12499504;12508121;12939451;14506257;14607301;14695538;15184642;15477516;15489334;15517445;15596607;15742100;16339213;16344560;16401858;16533974;16815977;17321752;17380240;17420921;17427918;17502470;17531128;18446315;18644145;18664244;19423133;19459885;19573020;19652243;19665976;19724895;19730024;19735987;19768483;19851296;20125193;20198315;20200447;20301682;20718791;20862796;20932283;21194679;21220294;21321493;21368113;21890473;21906983;21930898;21963094;22340599;22508509;23079343;23108492;23233086;23334294;23684613;23969831;24347629;7825576;8125298;8252041;8619474;9110174 51062 G3V321;G3V334;G3V4Y8;G3V5T4;H0YJ65;H0YJA7;Q53F53;Q8WXF7 ABBA01018139;ABBA01018140;ABBA01018141;ABBA01018142;AF131801;AF444143;AK223436;AK290185;AK312518;AL118556;AL606834;AL833591;AMYH02029169;AW674605;AY032844;BC010708;BG704589;BI601372;CH471078;CQ860306;CR457153;DA088230;DA397302;NG_009028;NM_001127713;NM_015915;NM_181598;R61338 AAD20047;AAH10708;AAK51160;AAL37898;BAD97156;BAF82874;CAG33434;CAH10392;CAH25961;EAW65705;EAW65706;EAW65707;EAW65708;EAW65709;NP_001121185;NP_056999;NP_853629;Q8WXF7 Hs.584905 1656847;1673492;1681298;1703856;1775032;2138956;2167117;5019907;5117012 G17830;G35761;G35806;G54794;HSC2BE052;RH98833;SHGC-79145;WI-16395;btcn28117 AD-FSP;FSP1;GBP-3;GBP3;HSN1D;SPG3;SPG3A;hGBP3 GTP-binding protein 3;OTTHUMP00000178981;OTTHUMP00000244698;atlastin-1;atlastin1;brain-specific GTP-binding protein;guanine nucleotide-binding protein 3;guanylate-binding protein 3;spastic paraplegia 3 protein A APPROVED protein-coding ENSG00000198513 HGNC:11231 05918 182600;606439;613708 REVIEWED 1312973 ATL2 atlastin GTPase 2 ENCODES a protein that exhibits identical protein binding; INVOLVED IN endoplasmic reticulum organization; Golgi organization; protein homooligomerization; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; integral component of membrane; membrane; INTERACTS WITH asbestos; atrazine; benzo[a]pyrene diol epoxide I 2 2 2 p22.3 38362844 38445253 - 38522027 38604432 - 38294885 38378173 - 737633;1580863;6480464;8554872 12477932 10508919;14702039;15517445;16344560;18270207;19665976;19946888;20360068;21139048;21890473;21906983;21963094;22065636;23000965;24816145;8125298 64225 B5MCN0;C9JC25;C9JQQ5;F8WBH0;F8WD17;F8WEN4;H7C3A2;Q8NHH9 ABBA01074991;ABBA01074992;ABBA01074993;ABBA01074994;ABBA01074995;ABBA01074996;ABBA01074997;AC016995;AF449187;AK026946;AK124434;AK225190;AK294049;AK294711;AK302621;AK303985;AK308894;AK316179;AMYH02003621;AMYH02003622;AMYH02003623;AMYH02003624;BC039050;BC053508;CH471053;DA643528;NM_001135673;NM_022374;NR_024191;XM_006712070;XM_006712071;XM_006712072 AAH53508;AAM97341;AAM97342;AAX88950;BAB15598;BAH11658;BAH11856;BAH13764;BAH14091;BAH14550;EAX00375;EAX00376;EAX00377;NP_001129145;NP_071769;Q8NHH9;XP_006712133;XP_006712134;XP_006712135 Hs.727652 1694696;1698872 G43537;RH103002 ARL3IP2;ARL6IP2;FLJ23293;aip-2 ADP-ribosylation factor-like 6 interacting protein 2;ADP-ribosylation factor-like protein 6-interacting protein 2;ADP-ribosylation-like factor 6 interacting protein 2;ARL-6-interacting protein 2;OTTHUMP00000128257;OTTHUMP00000128258;OTTHUMP00000201418;OTTHUMP00000201419;OTTHUMP00000201420;atlastin-2;atlastin2 protein-coding ENSG00000119787 HGNC:24047 10662 609368 VALIDATED 1353328 ATG9A autophagy related 9A INVOLVED IN autophagic vacuole assembly; PARTICIPATES IN autophagy pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN endosome; late endosome; membrane; INTERACTS WITH elemental selenium; ethanol; selenium atom 2 2 2 q35 213853809 213864068 - 220084102 220094387 - 219219380 219229688 - 1580863;1643198;4889529;6480464;8554872 17665967;20034776 11076863;11230166;12477932;14702039;15342556;15489334;15489336;15755735;16169070;16381901;16940348;17081983;19893488;19946888;20379614;20819778;21068542;21139048;21890473;21900206;21903422;21906983;21963094;21987572;22456507;24085552;24767251 79065 C9IYZ9;C9JD65;C9JDK4;C9JFV2;C9JKV7;C9JS65;C9JX27;C9JXG2;F2Z3I6;H7C152;H7C1G6;Q7Z3C6 ABBA01023846;ABBA01023847;AC068946;AK021732;AK025822;AK027448;AK056595;AK289755;AK302521;AK315553;AL833865;AMYH02005819;BC001098;BC001206;BC021202;BC065534;BK004018;BP284912;BX537984;BX538192;BX538198;CH471063;DC347583;NM_001077198;NM_024085;NR_104255 AAH01098;AAH21202;AAH65534;BAB13882;BAB15246;BAB55119;BAF82444;BAG51759;BAG63795;CAD38723;CAD97944;CAD98061;CAD98064;CAL38676;DAA05199;EAW70706;EAW70707;NP_001070666;NP_076990;Q7Z3C6 Hs.323363 1651365;1674240;1753657;1850441;2183384;2191041;5017593 A002Q44;ATG9A;D2S1807;MARC_13747-13748:1003852080:1;RH68357;SHGC-107518;WI-19704 APG9L1;MGD3208;mATG9 APG9 autophagy 9-like 1;APG9-like 1;ATG9 autophagy related 9 homolog A;OTTHUMP00000206046;OTTHUMP00000206048;OTTHUMP00000206049;OTTHUMP00000206062;apg9 autophagy 9-like 1 (s. cerevisiae);autophagy 9-like 1 protein;autophagy-related protein 9A APPROVED protein-coding ENSG00000198925 HGNC:22408 07979 612204 VALIDATED 1352218 ATG9B autophagy related 9B This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] 7 7 7 q36.1 145266630 145278919 - 150709297 150721586 - 151012209 151024499 - 1643198;4889529;6480464;8554872 17665967;20034776 12477932;14702039;15234981;15755735;17403686;19197948;19423521;19423540;19657746;19913121;19948975;20083107;20406964;20416077;20438785;20628086;22374993;22606351;22879892 285973 Q674R7 ABBA01035167;AC010973;AI221785;AI243432;AI827483;AK096734;AMYH02017067;AY316116;AY515311;BC128587;BK004019;NG_030317;NM_173681;NR_073169 AAI28588;AAQ86941;AAS87212;BAC04853;DAA05200;NP_775952;Q674R7 Hs.707300;Hs.716846 1682487;1848219;2156048;2177268 D7S2866;GDB:4585743;RH45385;RH99113 APG9L2;NOS3AS;SONE APG9-like 2;ATG9 autophagy related 9 homolog B;autophagy 9-like 2 protein;autophagy-related protein 9B;endothelial nitric oxide synthase antisense;nitric oxide synthase 3 antisense;nitric oxide synthase 3-overlapping antisense gene protein APPROVED protein-coding ENSG00000181652 HGNC:21899 08253 612205 REVIEWED 1603699 ATMIN ATM interactor ENCODES a protein that exhibits dynein binding; INVOLVED IN positive regulation of transcription, DNA-templated; FOUND IN nucleus; INTERACTS WITH cobalt dichloride; elemental selenium; methyl methanesulfonate 16 16 16 q23.2 65367853 65379348 + 81069458 81080955 + 81035853 81047350 + 6480464 12477932;15489334;15933716;17525732;18433721;18728389;18854154;19001856;19844255;20975950;21971545;22167198;25092319;8889548;9455477 23300 J3QRX7;O43313 AB007891;ABBA01016985;ABBA01016986;AC092718;AK025058;AK290943;AK301781;AK302556;AMYH02032504;BC002701;BI259534;BM693775;BX343387;BX375235;CF593326;CH471114;CR749457;NM_001300728;NM_015251;XM_005255866 AAH02701;BAA24861;BAF83632;BAH13552;BAH13741;CAH18291;EAW95549;EAW95550;EAW95551;EAW95552;NP_001287657;NP_056066;O43313;XP_005255923 Hs.16349;Hs.589959 1643608;1673006;1679435;1740197;2139892;5092332;5106381 D16S2944;D9S1775;G42176;RH65177;RH66612;RH70761;SGC32359 DKFZp779K1455;FLJ50270;FLJ61620;FLJ76795;KIAA0431;ZNF822 ASCIZ;ATM INteracting protein;ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein;ATM/ATR-substrate CHEK2-interacting zinc finger protein;ATM/ATR-substrate CHK2-interacting zinc finger protein;zinc finger protein 822 protein-coding ENSG00000166454 HGNC:29034 17188 614693 VALIDATED 1601766 ATL3 atlastin GTPase 3 This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014] 11 11 11 q13.1 60720452 60763095 - 63391554 63439533 - 63624082 63671969 - 6480464;8699517;7240710;8554872 10737800;12477932;14702039;18270207;19665976;19946888;21139048;21832049;21890473;21906983;21963094;21987572;22190034;22505724;23000965;24457600;24459106;24654937;24816145 25923 B4DXC4;F5GWF8;F5H6I7;Q6DD88 ABBA01003256;ABBA01003257;AK023383;AK090822;AK094227;AK097588;AK301910;AL117600;AMYH02024913;AMYH02024914;AMYH02024915;AP000753;BC077727;BE710391;BI829120;BX642720;BX648468;CH471076;CR936784;DB034045;DC394729;KF455400;NG_033985;NM_001290048;NM_015459;XM_005273891;XM_006718493;XM_006718494 AAH77727;BAB14552;BAC05111;BAG63336;CAB56010;EAW74161;EAW74162;EAW74163;NP_001276977;NP_056274;Q6DD88;XP_005273948;XP_006718556;XP_006718557 Hs.356719 2133625;2171887;2179937;5022200;5022578;5037552 A006Q18;D1S1423;D8S2279;G27556;L18426;RH12215 DKFZp564J0863;HSN1F OTTHUMP00000237071;OTTHUMP00000237072;atlastin 3;atlastin-3 protein-coding ENSG00000184743 HGNC:24526 13170 609369;615632 REVIEWED 1350083 ATOH8 atonal homolog 8 (Drosophila) ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN cell differentiation (inferred); nervous system development (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (R)-pantothenic acid; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 2 2 2 p11.2 85808992 85846589 + 85980909 86018506 + 85753786 85791383 + 737633;6480464 12477932 12419857;14702039;16344560;19913121;20628086;21857980;21988832;22354994;8889548 84913 Q96SQ7 ABBA01075767;ABBA01075768;ABBA01075769;ABBA01075770;AC012454;AC105053;AF529205;AK027614;AK074681;AK096049;AL831857;AMYH02004187;BC021207;BC094832;BM671127;BQ018438;CH471053;CQ783576;DA629171;NM_032827;XM_005264623;XM_006712121;XM_006712122;XM_006712123 AAH21207;AAH94832;AAO85773;BAB55233;BAC11135;CAF86744;CAH56263;EAW99481;EAW99482;NP_116216;Q96SQ7;XP_005264680;XP_006712184;XP_006712185;XP_006712186 Hs.135569 1340977;1700572;1759567;2140978 D2S2232;G31073;RH103908;SHGC-150973 FLJ14708;FLJ38730;HATH6;bHLHa21 OTTHUMP00000160681;atonal homolog 6;basic helix loop helix transcription factor 6;basic helix-loop-helix transcription factor 6;class A basic helix-loop-helix protein 21;helix-loop-helix protein hATH-6;protein atonal homolog 8 protein-coding HGNC:24126 09813 VALIDATED 1312698 ATOH7 atonal homolog 7 (Drosophila) This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011] 10 10 10 q21.3 63264910 63266384 - 69990352 69991870 - 68230595 68232113 - 1580863;6480464;7240710;8699517;8554872 11889557;12477932;12617822;14516699;16368877;20395239;20548946;21307088;21427129;21441919;21697133;22019371;22068589;22222511;22645276;23568457;23802135;24250222;24457358 220202 F1T0H4;Q8N100 AB593108;AB593109;ABBA01019557;AC016395;AF418922;AMYH02023250;BC032621;BK000277;BY797167;CH471083;H05728;NG_031934;NM_145178 AAH32621;AAL11911;ABM82115;ABM85298;BAJ84048;BAJ84049;DAA01057;EAW54269;NP_660161;Q8N100 Hs.175396;Hs.737072 1335257;1769696 D10S1418;D10S522 Math5;NCRNA;PHPVAR;RNANC;bHLHa13;hATH5 OTTHUMP00000019697;class A basic helix-loop-helix protein 13;helix-loop-helix protein hATH-5;protein atonal homolog 7 APPROVED protein-coding ENSG00000179774 HGNC:13907 09812 221900;609875 REVIEWED 1352790 ATN1 atrophin 1 Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Feb 2010] 12 12 12 p13.31 8652242 8670105 + 7033626 7051484 + 6924463 6942321 + 1358440;1580863;6480464;7240710;8699517;8554872 9184318 10085113;10332026;10737800;10814707;10973986;11121205;11781699;11807410;11843701;11984006;12464607;12477932;12812981;14645126;14756671;15148151;15223312;15302935;16091834;16169070;16407196;16481466;16534126;16713569;16858508;16967484;17081983;17503969;17577209;17965145;18182848;18651325;19039037;19235102;20196398;20301317;20301334;20301664;20339376;20467438;20589872;20696395;20811636;20977674;21749564;21827919;21890473;21988832;22083836;22315970;22342974;23263592;23933208;24550385;24981774;7485154;7647802;7842016;7951323;8136826;8136840;8325628;8723724;8786114;8852663;8965642;9074930;9361003;9535906;9647693;9845282;9949204 1822 P54259;Q86V38 ABBA01017668;ABBA01017669;AMYH02025957;AMYH02025958;AW411230;BC051795;BE142829;BQ448220;BQ880124;BQ897715;BQ957462;CH471116;D31840;D38529;D63808;NG_008047;NM_001007026;NM_001940;U23851;U47924 AAB50276;AAB51321;AAH51795;ABZ92035;BAA06626;BAA07534;BAA23631;EAW88706;EAW88707;EAW88708;NP_001007027;NP_001931;P54259 Hs.143766 1668496;1693756;1732307;1743205;1773574;1775539;1795774;1846582;2137943;2168225 AF021112;D12S1899;D12S755E;ENO2_37;G10506;G28537;GDB:303913;RH11235;SHGC-58828;STS-D31840 B37;D12S755E;DRPLA;HRS;NOD OTTHUMP00000239930;OTTHUMP00000239931;OTTHUMP00000239932;atrophin-1;dentatorubral-pallidoluysian atrophy (atrophin-1);dentatorubral-pallidoluysian atrophy protein APPROVED protein-coding ENSG00000111676 HGNC:3033 06311 125370;607462 REVIEWED 737338 ATOX1 antioxidant 1 copper chaperone This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008] 5 5 5 q32 147203796 147219624 - 151122383 151138210 - 151742822 151758649 - 1580863;6480464;8548474 23936210 10497213;10557326;10966647;10982193;12029094;12420134;12477932;12594858;12679332;12686548;12763797;12968035;14702039;14709553;15133031;15146197;15476398;15489334;15670166;15761197;16172131;16571664;16573520;17545667;17616150;17881304;17919502;18245776;18416466;18558714;18685091;18976975;19146392;19453293;21139048;21258123;21482801;21890473;21906983;22574136;22648419;22677543;23000965;23169585;23553875;23624903;23751120;23778981;24036897;9083055;9430722 475 E5RGN3;E5RIM7;O00244 ABBA01026261;ABBA01026262;AC011374;AC091982;AK091843;AK293063;AMYH02012472;AMYH02012473;AY165037;AY986502;BC112248;BC112250;BI599233;BT009786;BU172675;CH471062;CN280769;CR456901;NM_004045 AAI12249;AAI12251;AAN84554;AAP88788;AAX81411;ADR82784;BAF85752;CAG33182;EAW61663;EAW61664;NP_004036;O00244 Hs.125213 1660691;1697224;1780978;1792390;1792392;1792394;2140111;2179422 PMC150598P1;PMC150598P2;PMC150598P3;RH102104;RH16152;RH46133;WI-18405;bac5571S ATX1;HAH1;MGC138453;MGC138455 ATX1 antioxidant protein 1 homolog;OTTHUMP00000224114;OTTHUMP00000224178;atx1 (antioxidant protein 1) homolog 1 (yeast);copper transport protein ATOX1;metal transport protein ATX1 APPROVED protein-coding ENSG00000177556 HGNC:798 03779 602270 REVIEWED 1606040 ATM ATM serine/threonine kinase The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010] 11 11 11 q22-q23 105248510 105394764 + 108093559 108239829 + 108222832 108369102 + 1643349;1643350;1643351;2293870;2293869;2293868;2317367;2317363;2317234;2316155;2316156;1599367;1599366;6480464;6484113;6907045;7240710;8554872;8693659;8661225;8699517;8661232;1601249 10748873;11200774;11751435;11852039;14983937;15863839;16520463;16601750;16997395;17064299;17164260;18381943;18534819;19147782;19450511;21533982;23532176 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472 E9PIN0;E9PIQ5;E9PRG7;H0YDU7;H0YEC6;M0QXY8;Q13315 AB209133;ABBA01039868;AF035328;AK299843;AMYH02025546;AMYH02025547;AMYH02025548;AMYH02025549;AP001925;AP005718;AY220758;BC007023;BC022307;BC061584;BC137169;BC152385;BC152389;BT006764;CH471065;CR749436;HM437232;KF455499;NG_009830;NM_000051;U26455;U33841;U55757;U67092;U67093;U82828;X91196;XM_005271561;XM_005271562;XM_005271564;XM_006718843;XM_006718844;XM_006718845;Y08455 AAA86520;AAB38309;AAB38310;AAB65827;AAC50289;AAC51298;AAH61584;AAI37170;AAI52386;AAI52390;AAM09295;AAO26044;AAP35410;ADN43064;BAD92370;BAG61705;CAA62603;CAA69711;CAH18274;EAW67108;EAW67109;EAW67110;EAW67111;EAW67112;EAW67113;EAW67114;EAW67115;NP_000042;Q13315;XP_005271618;XP_005271619;XP_005271621;XP_006718906;XP_006718907;XP_006718908 Hs.367437 1652464;1697484;1710408;1712204;1724047;1734066;1737751;1789282;1789284;1789729;1789731;1789733;1789735;1789737;1789739;1789741;1789743;1789745;1789747;1789749;1789751;1789753;1789755;1789757;1789759;1789761;1789763;1789765;1789767;1789769;1789771;1789773;1789775;1789777;1789779;1789781;1789783;1789785;1789787;1789789;1789791;1789793;1789795;1789797;1789799;1789801;1789803;1792164;1797304;2185380;2185536;2185814;2190229;2190231;2190233;2190235;2190237;2190239;2190241;2190243;2190245;2190247;2190249;2190251;2190253;2190255;2190257;2190259;2190261;2190263;2190265;2190267;2190269;2190271;2190273;2190275;2190277;2190279;2190281;2190283;2190285;5015619;5015861;5015869;5015879;5015961;5016596;5020881;5020946;5022200;5022322;5022578;5022651;5024413;5037552;7185938 ATM_2409;ATM_EXON49;ATM_EXON63;ATM_exon1a;ATM_exon1b1;ATM_exon25;ATM_exon26;ATM_exon28;ATM_exon3;ATM_exon30;ATM_exon32;ATM_exon33;ATM_exon36;ATM_exon37;ATM_exon38;ATM_exon41;ATM_exon44;ATM_exon50;ATM_exon52;ATM_exon53;ATM_exon61;ATM_exon65F;ATM_exon65a;ATM_exon65b;ATM_exon65c;ATM_exon65e;ATM_exon65g;ATM_exons23and24;ATM_x9;D10S16;D11S2179;D11S2560;D11S2921;D11S3114;D11S3347;D15S1477;D1S1423;D8S2279;G54153;G67874;G67879;GDB:313261;GDB:314949;GDB:631802;L17709;L17877;L17971;L18426;PMC137935P1;PMC311160P1;RH102244;RH119034;RH17960;RH36405;SHGC-35479;SHGC-82486;STS-AA016254;csnpatm-pcr1-1;csnpatm-pcr10-1;csnpatm-pcr11-1;csnpatm-pcr15-1;csnpatm-pcr17-1;csnpatm-pcr18-1;csnpatm-pcr19-1;csnpatm-pcr20-1;csnpatm-pcr21-1;csnpatm-pcr22-1;csnpatm-pcr23-1;csnpatm-pcr24-1;csnpatm-pcr25-1;csnpatm-pcr27-1;csnpatm-pcr28-1;csnpatm-pcr29-1;csnpatm-pcr3-1;csnpatm-pcr30-1;csnpatm-pcr31-1;csnpatm-pcr33-1;csnpatm-pcr35-1;csnpatm-pcr38-1;csnpatm-pcr39-1;csnpatm-pcr4-1;csnpatm-pcr40-1;csnpatm-pcr42-1;csnpatm-pcr43-1;csnpatm-pcr45-1;csnpatm-pcr46-1;csnpatm-pcr47-1;csnpatm-pcr48-1;csnpatm-pcr50-1;csnpatm-pcr55-1;csnpatm-pcr56-1;csnpatm-pcr6-1;csnpatm-pcr64-1;csnpatm-pcr7-1;csnpatm-pcr8-1 AT1;ATA;ATC;ATD;ATDC;ATE;DKFZp781A0353;MGC74674;TEL1;TELO1 A-T mutated;AT mutated;OTTHUMP00000232981;TEL1, telomere maintenance 1, homolog;ataxia telangiectasia mutated;ataxia telangiectasia mutated (includes complementation groups A, C and D);human phosphatidylinositol 3-kinase homolog;serine-protein kinase ATM APPROVED protein-coding ENSG00000149311 HGNC:795 06347 114480;208900;607585 REVIEWED 1349240 ATOH1 atonal homolog 1 (Drosophila) This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq, Jul 2008] 4 4 4 q22 92046181 92047245 + 94750078 94751142 + 93828927 93829991 + 1580863;6480464 11748221;11889557;12209986;12477932;14757642;15489334;16382053;16647036;16831200;17000673;17241872;17397818;17549667;17826772;18275842;19243219;19741118;19924642;20621629;21125297;22147253;22370966;22573682;22573692;22786753;22985730;23030416;23333391;23464457;23724999;24141260;24904172;8872459;9449674 474 Q6ISE7;Q92858 ABBA01063610;AC087413;AMYH02009752;BC069145;BC069578;BC069594;BC069604;BC113623;BC113625;CH471057;NM_005172;U61148 AAB41305;AAH69145;AAH69578;AAH69594;AAH69604;AAI13624;AAI13626;ABZ91994;ADR82945;EAX06046;NP_005163;Q92858 Hs.532680 1652028;1743337;1795404;2166547;5492929;5494051 ATOH1_309;GDB:314993;RH70687;SHGC-67257;UniSTS:480821;UniSTS:483276 ATH1;HATH1;MATH-1;bHLHa14 OTTHUMP00000161597;class A basic helix-loop-helix protein 14;helix-loop-helix protein hATH-1;protein atonal homolog 1 APPROVED protein-coding HGNC:797 03270 601461 REVIEWED 1314601 ATP10A ATPase, class V, type 10A The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 4086178 4270059 - 25923859 26110304 - 25678712 25865170 - 1580863;6480464;8554872 10482951;11015572;11326269;11353404;12105293;12477932;15071553;15489334;15919184;18186074;18726118;19086053;19851296;20198315;20379614;20609483;21209057;21901158;22610502;9628581 57194 G3V261;H0YJI4;O60312 AB011138;AB051358;ABBA01048696;ABBA01048697;ABBA01048698;ABBA01048699;ABBA01048700;AC016266;AC023449;AC109512;AMYH02030098;AMYH02030099;AMYH02030100;AMYH02030101;AMYH02030102;AY029487;AY029504;BC038712;BC052251;CH471151;NG_009282;NM_024490;XM_005268261;XM_006720619 AAH38712;AAH52251;AAK33100;ACE86498;ACE87179;BAA25492;BAB47392;EAW57647;EAW57648;EAW57649;EAW57650;NP_077816;O60312;XP_005268318;XP_006720682 Hs.659258 1342107;1704818;1709266;1762161;1769934;2149716 D15S986;SHGC-146053;SHGC-6183;SHGC-79879;SHGC-85824;STS-N35112 ATP10C;ATPVC;KIAA0566 ATPVA;ATPase type IV, phospholipid transporting (P-type);ATPase, Class V, type 10C;OTTHUMP00000246731;P4-ATPase flippase complex alpha subunit ATP10A;aminophospholipid translocase VA;phospholipid-transporting ATPase VA;probable phospholipid-transporting ATPase VA APPROVED protein-coding HGNC:13542 05790 605855 REVIEWED 6481163 ATP11A-AS1 ATP11A antisense RNA 1 13 13 q34 113399763 113409026 - 112745449 112754731 - 12477932;14702039 100874205 ABBA01019853;AK093292;AL356752;AMYH02028731;BC041346;NR_046661;NR_109811 Hs.658692;Hs.666761 APPROVED ncrna ENSG00000232684 HGNC:40645 VALIDATED 1345428 ATP10B ATPase, class V, type 10B ENCODES a protein that exhibits ATP binding (inferred); cation-transporting ATPase activity (inferred); magnesium ion binding (inferred); INVOLVED IN cation transmembrane transport (inferred); metabolic process (inferred); phospholipid translocation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH cobalt atom; trichostatin A; valproic acid 5 5 5 q34 156022604 156311791 - 159990127 160279219 - 160563120 160852212 - 1580863;6480464;8554872 11015572;12477932;14702039;15372022;9872452 23120 O94823;Q2YDW8 AB018258;ABBA01044214;ABBA01044215;ABBA01044216;ABBA01044217;AC008388;AC008456;AC011363;AC091928;AK024894;AK025130;AK025290;AK025294;AK090832;AK295081;AMYH02012606;AMYH02012607;AMYH02012608;AMYH02012609;AMYH02012610;AMYH02012611;AMYH02012612;BC018773;BC108322;KF458040;NM_025153;XM_005265849;XM_006714833 AAI08323;AAI67815;BAA34435;BAB15074;BAC03528;BAG58123;NP_079429;O94823;XP_005265906;XP_006714896 Hs.109358 1338700;1646098;1675684;1700266;1739333;1780828;1781020;1785490;1848792;2163199 D5S1818E;D5S2693;D5S529;G16945;RH103750;RH91270;SHGC-153296;WI-22551;bac52337S;bac5784T ATPVB;FLJ21477;KIAA0715 OTTHUMP00000224263;P4-ATPase flippase complex alpha subunit ATP10B;probable phospholipid-transporting ATPase VB protein-coding ENSG00000118322 HGNC:13543 08637 VALIDATED 1316047 ATP10D ATPase, class V, type 10D ENCODES a protein that exhibits ATP binding (inferred); cation-transporting ATPase activity (inferred); magnesium ion binding (inferred); INVOLVED IN cation transmembrane transport (inferred); ion transmembrane transport (inferred); metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN endoplasmic reticulum; nucleus; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; cyclosporin A 4 4 4 p12 47936627 48044747 + 47487296 47595503 + 47485280 47593486 + 1580863;6480464;8554872 10819331;12477932;12532265;14702039;15071553;15919184;19798445;20379614;20877624;21890473;22359512;23000965;24125428 57205 H0Y8M7;Q6PEW3;Q9P241 AB040920;ABBA01014336;ABBA01014337;AC092597;AC107398;AJ441078;AK027598;AK074930;AMYH02009161;BC057839;BC131535;CH471069;NM_020453;XM_005248118;XM_005248119;XM_005248120;XM_006714024 AAH57839;AAI31536;BAA96011;BAB55221;BAC11299;CAD29577;EAW93036;EAW93037;NP_065186;Q9P241;XP_005248175;XP_005248176;XP_005248177;XP_006714087 Hs.437241 1645091;1687654;1720513;1759965;1760439;1760815;2218266 ATP10D_4041;D4S2808;G59210;RH93851;SHGC-111174;SHGC-142693;SHGC-144419 ATPVD;KIAA1487 OTTHUMP00000125285;P4-ATPase flippase complex alpha subunit ATP10D;probable phospholipid-transporting ATPase VD;type IV aminophospholipid transporting ATPase protein-coding ENSG00000145246 HGNC:13549 16518 VALIDATED 1348822 ATP11B ATPase, class VI, type 11B P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005] 3 3 3 q27 180945823 181073871 + 182511291 182639423 + 182793503 182921635 + 1580863;6480464 10231032;10737800;11015572;11790799;12477932;14702039;15071553;15489334;15919184;16641997;17456239;19946888;21139048;21914794;23000965;23585472 23200 B4DKX1;B4E3T1;H0Y854;H0Y8C7;H7C4E6;H7C4W6;H7C575;Q9Y2G3 AB023173;ABBA01058490;ABBA01058491;AC069431;AC092953;AF156548;AK093727;AK296750;AK304855;AL133061;AMYH02008270;AMYH02008271;AMYH02008272;BC010630;BC033880;BC042180;BF372979;BI861412;BU431705;BX489704;BX537779;CH471052;DQ925668;DR000074;NM_014616;XM_005247241;XM_005247242;XM_005247243 AAF09446;AAH10630;AAH33880;AAH42180;AAI48559;ABL59895;BAA76800;BAG52754;BAG59333;BAG65593;CAB61385;CAD97838;EAW78344;EAW78345;EAW78346;EAW78347;NP_055431;Q9Y2G3;XP_005247298;XP_005247299;XP_005247300 Hs.478429 1646988;1647529;1697536;1697626;1852319;2131740;2151861 D3S4308;RH102274;RH102325;SHGC-14974;SHGC-36677;SHGC-53491;SHGC-77585 DKFZp434J238;DKFZp434N1615;KIAA0956;MGC46576 ATPIF;ATPIR;ATPase IR;OTTHUMP00000212751;OTTHUMP00000212753;P4-ATPase flippase complex alpha subunit ATP11B;probable phospholipid-transporting ATPase IF;truncated ATPase 11B protein APPROVED protein-coding ENSG00000058063 HGNC:13553 10432 605869 VALIDATED 1351598 ATP11C ATPase, class VI, type 11C ENCODES a protein that exhibits ATP binding (inferred); cation-transporting ATPase activity (inferred); magnesium ion binding (inferred); INVOLVED IN cation transmembrane transport (inferred); ion transmembrane transport (inferred); metabolic process (inferred); FOUND IN endoplasmic reticulum; lysosomal membrane; plasma membrane; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; amiodarone X X X q27.1 139175990 139281918 - 138808505 139015190 - 139726346 139933033 - 1580863;6480464 10737800;11015572;12477932;14702039;15071553;15533723;15772651;15919184;16344560;17897319;21906983;21914794;21963094;24904167;8034313 286410 A0A067XG54;A0A067XG57;H7C0E8;H7C113;Q8NB49 AA829385;ABBA01066060;ABBA01066061;ABBA01066062;ABBA01066063;ABBA01066064;ABBA01066065;ABBA01066066;ABBA01066067;ABBA01066068;ABBA01066069;ABBA01066070;ABBA01066071;AJ580093;AJ580094;AK091552;AK093835;AK125474;AK125476;AK125986;AK131262;AL161777;AL356785;AL590077;AMYH02040614;AMYH02040615;AMYH02040616;BC132728;BC132730;BX648320;BX648981;CH471150;D16467;DB348089;NG_016550;NM_001010986;NM_173694;XM_005262405;XM_006724751;XM_006724752;XM_006724753 AAI72372;BAC03692;BAC86172;BAC86377;BAD18440;CAE30472;CAE30473;EAW88424;EAW88425;NP_001010986;NP_775965;Q8NB49;XP_005262462;XP_006724814;XP_006724815;XP_006724816 Hs.88252 1700962;1702680;1702794;1708652;1781132;2218268 ATP11C_4391;RH104108;SHGC-85130;UniSTS:99496;sWXD1509;stdJ41P24T7 ATPIG;ATPIQ;OTTHUMP00000024161;OTTHUMP00000215065;OTTHUMP00000215081;P4-ATPase flippase complex alpha subunit ATP11C;phospholipid-transporting ATPase IG;probable phospholipid-transporting ATPase IG protein-coding ENSG00000101974 HGNC:13554 09814 300516 VALIDATED 734042 ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 13 13 13 q12.12 6318100 6349140 + 25254549 25285923 + 24680411 24711785 + 704409;1580863;704405;1300048;6480464;6907045;8554872 11125071 11880279;12110518;12230809;12477932;15071553;15086469;15135233;16344560;17342744;1847115;19487957;19694409;20379614;21139048;21890473;21906983;21963094;21988832;22053931;22118674;22179016;22505724;23000965;23251661;2842249;3035563;3036582;8045293;8838794;8889548;9872395 479 B4E0R9;P54707 ABBA01007894;AK292968;AK303498;AL157364;AMYH02027708;AMYH02027709;BC031609;CA450333;CH471075;DB216724;DB232979;L42558;L42559;L42560;L42561;L42562;L42563;L42565;L42566;L42567;L42568;L42569;M16797;M27574;NM_001185085;NM_001676;U02076;X69823;X69824 AAA35576;AAA51802;AAB37755;AAC37589;AAH31609;ADZ15516;BAF85657;BAG64531;CAA49477;CAA49478;EAX08343;EAX08344;EAX08345;EAX08346;NP_001172014;NP_001667;P54707 Hs.147111 1339746;1737431;2135099 D13S742;D13S999;SHGC-12920 ATP1AL1 ATPase, Na+/K+ transporting, alpha polypeptide-like 1;ATPase, Na+K+ transporting, alpha-1 polypeptide-like;OTTHUMP00000018132;non-gastric H(+)/K(+) ATPase alpha subunit;non-gastric H(+)/K(+) ATPase subunit alpha;potassium-transporting ATPase alpha chain 2;proton pump;sodium/potassium ATPase, alpha polypeptide-like 1643387 BW328_H APPROVED protein-coding ENSG00000075673 HGNC:13816 01667 182360 REVIEWED 6481170 ATP13A4-AS1 ATP13A4 antisense RNA 1 3 3 q29 193257774 193273371 + 193539985 193555582 + 101929198 ABBA01058288;AC048351;AMYH02008438;BI752631;BX090007;DB308311;NR_046726;NR_121666;XR_241637;XR_249477;XR_251517 Hs.450092;Hs.674423 APPROVED ncrna HGNC:41095 VALIDATED 1342911 ATP13A2 ATPase type 13A2 This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008] 1 1 1 p36 15634791 15660760 - 17312453 17338467 - 16985958 17011972 - 1580863;6480464;7240710;8554872;8699517 11584046;12477932;15381061;15489334;16710414;16964263;17485642;17897319;18413573;18785233;19015489;19085912;19097176;19224617;19705361;19806583;20036179;20137506;20189936;20227461;20301334;20301402;20301601;20310007;20483373;20669327;20816920;20842691;20853184;20976737;21060012;21094623;21139048;21362476;21542062;21665991;21696388;21714071;21724849;21890473;21900206;21906983;22104014;22117566;22186024;22285144;22288903;22296644;22388936;22442086;22457822;22490479;22645275;22647602;22743658;22768177;22847264;23000965;23121889;23196729;23205587;23284715;23447832;23499937;23522931 23400 H0Y8I1;H0Y8V5;H0Y8Z6;H0Y953;H0Y9K0;H0Y9K4;H0YAI7;Q9NQ11 ABBA01000262;AJ009947;AK025928;AK075310;AK290210;AL049569;AL354615;AL833966;AMYH02000388;AY461712;AY987009;BC030267;BC034575;CH471134;HY024349;NG_009054;NM_001141973;NM_001141974;NM_022089;XM_005245809;XM_005245810;XM_005245811;XM_005245812;XM_005245813;XM_005245815;XM_006710512;XM_006710513 AAH30267;AAH34575;AAR23423;AAX88804;BAC11539;BAF82899;CAA08912;CAB89728;CAD38813;EAW94824;EAW94825;EAW94826;EAW94827;NP_001135445;NP_001135446;NP_071372;Q9NQ11;XP_005245866;XP_005245867;XP_005245868;XP_005245869;XP_005245870;XP_005245872;XP_006710575;XP_006710576 Hs.128866 1335476;1338577;1339307;1341324;1745757;2121681;2152546 D1S1592;D1S199;D1S2644;D1S2826;D1S3017;GDB:636056;UniSTS:28191 CLN12;FLJ26510;HSA9947;KRPPD;PARK9;RP1-37C10.4 OTTHUMP00000002399;OTTHUMP00000002400;OTTHUMP00000221711;probable cation-transporting ATPase 13A2;putative ATPase APPROVED protein-coding ENSG00000159363 HGNC:30213 13677 606693;610513 REVIEWED 1601909 ATP11AUN ATP11A upstream neighbor ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsane; arsenic atom; fonofos 13 13 13 q34 94126686 94164130 + 113301358 113338811 + 112647044 112684497 + 6480464;8554872 20858683 400165 Q6ZP68 ABBA01019850;AK129953;AL139384;AMYH02028728;AMYH02028729;AMYH02028730;CH471085;LN608488;NM_207440 BAC85256;EAX09168;NP_997323;Q6ZP68 Hs.591213 1705772;1799226;1800278;1806840;1809974;1810206;1812116;1813192;1813684;1814000;1814376;1814504;1815020;1818250;1820014;1822540;1824348;1826280;1826352;1827068;1827174;1828090;1829078;1830086;1831230;1832778;1833392;1835274;1838652;1838942;1841630;1843376;1844248;1891500;1891502;1891504;1891506;1891508;1891510;1891512;1891514;1891516;1891518;1891520;1891522;1891524;1891526;1891528;1891530;1891532;1891534;1891536;1891538;1891540;1891542;1891544;1891546;1891548;1891550;1891552;1891554;1891556;1891558;1891560;1891562;1891564;1891566;1891568;1891570;1891572;1891574;1891576;1891578;1891580;1891582;1891584;1891586;1891588;1891590;1891592;1891594;1891596;1891598;1891600;1891602;1891604;1891606;1891608;1891610;1891612;1891614;1891616;1891618;1891620;1891622;1891624;1891626;1891628;1891630;1891632;1891634;1891636;1891638;1891640;1891642;1891644;1891646;1891648;1891650;1891652;1891654;1891656;1891658;1891660;1891662;1891664;1891666;1891668;1891670;1891672;1891674;1891676;1891678;1891680;1891682;1891684;1891686;1891688;1891690;1891692;1891694;1891696;1891698;1891700;1891702;1891704;1891706;1891708;1891710;1891712;1891714;1891716;1891718;1891720;1891722;1891724;1891726;1891728;1891730;1891732;1891734;1891736;1891738;1891740;1891742;1891744;1891746;1891748;1891750;1891752;1891754;1891756;1891758;1891760;1891762;1891764;1891766;1891768;1891770;1891772;1891774;1891776;1891778;1891780;1891782;1891784;1891786;1891788;1891790;1891792;1891794;1891796;1891798;1891800;1891802;1891804;1891806;1891808;2201888;2201890;2201892;2201894;2201896;2201898;2201900;2201902;2201904;2201906;2201908;2201910;2201912;2201914;2201916;2201918;2201920;2201922;2201924;2201926;2201928;2201930;2201932;2201934;2201936;2201938;2201940;2201942 ECD00461;ECD00997;ECD04385;ECD05979;ECD06095;ECD07063;ECD07616;ECD07865;ECD08027;ECD08217;ECD08282;ECD08541;ECD10182;ECD11079;ECD12358;ECD13272;ECD14252;ECD14289;ECD14649;ECD14702;ECD15168;ECD15666;ECD16176;ECD16751;ECD17530;ECD17839;ECD18792;ECD20500;ECD20650;ECD22012;ECD22896;ECD23337;REN16454;REN16455;REN16456;REN16457;REN16458;REN16459;REN16460;REN16461;REN16462;REN16463;REN16464;REN16465;REN16466;REN16467;REN16468;REN16469;REN16470;REN16471;REN16472;REN16473;REN16474;REN16475;REN16476;REN16477;REN16478;REN16479;REN16480;REN16481;REN16482;REN16483;REN16484;REN16485;REN16486;REN16487;REN16488;REN16489;REN16490;REN16491;REN16492;REN16493;REN16494;REN16495;REN16496;REN16497;REN16498;REN16499;REN16500;REN16501;REN16502;REN16503;REN16504;REN16505;REN16506;REN16509;REN16510;REN16511;REN16512;REN16513;REN16514;REN16515;REN16516;REN16517;REN16518;REN16519;REN16520;REN16521;REN16522;REN16523;REN16524;REN16525;REN16526;REN16527;REN16528;REN16529;REN16530;REN16531;REN16532;REN16533;REN16534;REN16535;REN16536;REN16537;REN16538;REN16539;REN16540;REN16541;REN16542;REN16544;REN16546;REN16547;REN16548;REN16549;REN16550;REN16551;REN16552;REN16553;REN16554;REN16555;REN16556;REN16557;REN16558;REN16559;REN16560;REN16561;REN16562;REN16563;REN16564;REN16565;REN16566;REN16567;REN16568;REN16569;REN16570;REN16571;REN16572;REN16573;REN16574;REN16575;REN16576;REN16577;REN16578;REN16579;REN16580;REN16581;REN16582;REN16583;REN16584;REN16587;REN16588;REN16589;REN16590;REN16591;REN16592;REN16593;REN16594;REN16595;REN16596;REN16597;REN16598;REN16599;REN16600;REN16601;REN16602;REN16603;REN16604;REN16605;REN16606;REN16607;REN16608;REN16609;REN16610;REN16611;REN16612;REN16613;REN16614;SHGC-78674;stSG621614;stSG621615;stSG621616;stSG621617;stSG621618;stSG621619;stSG621620;stSG621621;stSG621622;stSG621623;stSG621624;stSG621625;stSG621626;stSG621628;stSG621629;stSG621630;stSG621631;stSG621632;stSG621633;stSG621634;stSG621635;stSG621636;stSG621637;stSG621638;stSG621639;stSG621640;stSG621641;stSG621642 C13orf35;FLJ26443;SMABLO1 OTTHUMP00000178855;putative protein ATP11AUN;putative uncharacterized protein C13orf35;small blood protein 1 APPROVED protein-coding ENSG00000197595 HGNC:33793 16926 PROVISIONAL 1353842 ATP13A3 ATPase type 13A3 ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008] 3 3 3 q29 192538810 192604327 - 194123403 194188968 - 194402674 194468239 - 1580863;5509063;6480464;8554872 21793738 11867234;12477932;14702039;15342556;16303743;16344560;16641997;17081983;19913121;19946888;20628086;21139048;21906983;21963094;22505724;23000965;8125298;8175911 79572 C9J7Z7;C9JAP7;H7C1U7;Q9H7F0 ABBA01001627;ABBA01001628;AC108676;AC125362;AJ306929;AK024639;AK075094;AK225064;AMYH02008452;AMYH02008453;BC037805;BC106085;BP313821;BX641098;DA852339;DR005713;DR423199;DV080200;NM_024524;XM_005269357;XM_005269358;XM_005269360;XM_006713742;Z24724 AAI66610;BAB14942;BAC11398;CAC84902;NP_078800;Q9H7F0;XP_005269414;XP_005269415;XP_005269417;XP_006713805 Hs.529609 1660951;1667394;1675736;1695348;1850916;2153394;2172863;2173361 G29192;RH78493;RH93590;SHGC-37559;SHGC-64151;SHGC-64859;SHGC-77686;STS-H48097 AFURS1;DKFZp686K16189;FLJ90613 ATPase family homolog up-regulated in senescence cells 1;OTTHUMP00000209099;probable cation-transporting ATPase 13A3 APPROVED protein-coding ENSG00000133657 HGNC:24113 10636 610232 VALIDATED 6481175 ATP13A5-AS1 ATP13A5 antisense RNA 1 q29 100874218 AC105057;CB054191;CR746107;NR_046758 Hs.407490 APPROVED ncrna HGNC:41281 VALIDATED 1318606 ATP11A ATPase, class VI, type 11A The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q34 94169962 94366346 + 113344358 113541482 + 112690048 112887168 + 1580863;6480464;8554872 10470851;11015572;12477932;14702039;15057823;15533723;17897319;19946888;20043114;20379614;20858683;21139048;21890473;21906983;21914794;21963094;23000965;23583980;24250222 23250 A2A3G9;E9PEJ6;H0Y547;H0Y624;H0Y8F0;P98196;Q659C3;Q6PJ25 AB028944;ABBA01019851;ABBA01019852;ABBA01019853;AI703438;AK024264;AK025511;AK091253;AK128241;AL139384;AL161996;AL162711;AL356740;AL356752;AMYH02028730;AMYH02028731;AMYH02028732;BC008824;BC024154;BC035215;BC044649;BE675783;CH471085;NM_015205;NM_032189;XM_005268299;XM_005268300;XM_005268301;XM_005268303;XM_005268305;XM_005268306;XM_006719965 AAH24154;AAI67794;BAA82973;BAB15157;CAH56364;EAX09171;NP_056020;NP_115565;P98196;XP_005268356;XP_005268357;XP_005268358;XP_005268360;XP_005268362;XP_005268363;XP_006720028 Hs.29189 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tSG621758;stSG621759;stSG621760;stSG621761;stSG621762;stSG621764;stSG621765;stSG621766;stSG621769;stSG621770;stSG621771;stSG621772;stSG621773;stSG621774;stSG621775;stSG621776;stSG621777;stSG621778;stSG621779;stSG621780;stSG621781;stSG621785;stSG621786;stSG621787;stSG621788;stSG621789;stSG621792;stSG621793;stSG621794;stSG621795;stSG621796;stSG621797;stSG621798;stSG621799;stSG621800;stSG621801 ATPIH;ATPIS;OTTHUMP00000018729;OTTHUMP00000062144;P4-ATPase flippase complex alpha subunit ATP11A;phospholipid-translocating ATPase;potential phospholipid-transporting ATPase IH;probable phospholipid-transporting ATPase IH APPROVED protein-coding ENSG00000068650 HGNC:13552 12059 605868 REVIEWED 1346886 ATP13A1 ATPase type 13A1 ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); cation-transporting ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); cation transmembrane transport (inferred); cation transport (inferred); FOUND IN membrane; INTERACTS WITH (+)-catechin; paracetamol; quercetin 19 19 19 p13.11 19660082 19678574 - 19756007 19774512 - 19645198 19663703 - 6480464 11347906;12477932;14702039;15489334;16335952;16344560;17081983;19913121;19946888;20628086;21139048;21890473;21906983;21963094;21988832;22505724;23000965;23864651 57130 H7C3H2;Q9HD20 AB058728;ABBA01051338;AC011458;AF288687;AK026044;AK056420;AK074159;AK074798;AK074920;AK095287;AK123780;AK125861;AK130125;AK172778;AL834180;AMYH02035760;BC009302;BC069211;CH471106;DA103408;NM_020410;XM_005259992;XM_005259993;XM_005259995;XR_430145 AAG01173;AAH09302;AAH69211;AAI56251;BAB15334;BAB47454;BAB84985;BAC11294;BAC85690;BAC86325;BAD18759;BAG51704;BAG53019;CAD38877;EAW84847;EAW84848;EAW84849;EAW84850;EAW84851;EAW84852;EAW84853;EAW84854;NP_065143;Q9HD20;XP_005260049;XP_005260050;XP_005260052 Hs.501794 1686788 RH98505 ATP13A;CGI-152;DKFZp761L1623;FLJ31858;FLJ41786;FLJ43873;FLJ90317;KIAA1825 OTTHUMP00000202891;OTTHUMP00000202892;cation transporting ATPase;manganese-transporting ATPase 13A1;probable cation-transporting ATPase 13A1 protein-coding ENSG00000105726 HGNC:24215 12501 VALIDATED 1346317 ATP13A4 ATPase type 13A4 ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); cation-transporting ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); cation transmembrane transport (inferred); cation transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH hydralazine; trichostatin A; valproic acid 3 3 3 q29 191535006 191687743 - 193119866 193272810 - 193401745 193555122 - 1580863;6480464 12477932;12975309;14702039;15925480 84239 B3KU47;B7WPN9;F8W9W3;H0Y4Z2;H7C1P5;Q4VNC1 ABBA01058288;ABBA01058289;AC048351;AC092942;AC105057;AK095277;AK096510;AL512736;AMYH02008437;AMYH02008438;AY358110;AY823162;BC101496;BC143604;CH471052;NM_032279;XM_005247829;XM_006713786;XR_241512 AAI01497;AAQ88477;AAX24102;BAC04520;BAG53309;CAC21667;EAW78073;EAW78074;EAW78075;NP_115655;Q4VNC1;XP_005247886;XP_006713849 Hs.674423 DKFZp761I1011;MGC126545 OTTHUMP00000082701;OTTHUMP00000159149;P5-ATPase;cation-transporting P5-ATPase;probable cation-transporting ATPase 13A4 protein-coding ENSG00000127249 HGNC:25422 12502 609556 VALIDATED 1603000 ATP1A1-AS1 ATP1A1 antisense RNA 1 INTERACTS WITH melphalan 1 1 1 p13.1 115164113 115189870 - 116935487 116961244 - 116392865 116418622 - 6480464 12477932 84852 Q5TC04 ABBA01068487;AK309389;AK309872;AL136376;AMYH02001791;BC007373;BC018892;BC028281;BC069003;BC098428;BX389823;DC351073;NR_024124;NR_024125;NR_024126;NR_027645;NR_027646 Q5TC04 Hs.664752 2121808;2217046 AL009430;ATP1A1_2746 ATP1A1OS;C1orf203;MGC16179 APPROVED ncrna ENSG00000203865 HGNC:28262 PREDICTED 1343803 ATP13A5 ATPase type 13A5 ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); cation-transporting ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); cation transmembrane transport (inferred); cation transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (S)-amphetamine (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 3 3 3 q29 191408105 191511656 - 192992831 193096514 - 193275042 193378725 - 6480464;8554872 12975309;15925480 344905 C9JPQ4;Q4VNC0 ABBA01058289;ABBA01058290;ABBA01058291;AC105057;AK122613;AMYH02008437;AY358667;AY823163;BC033334;CH471052;NM_198505 AAI56653;AAQ89030;AAX24103;BAC85490;EAW78076;EAW78077;NP_940907;Q4VNC0 Hs.658032 1336972;1684212;1746979;1766725;1794772;2128638 D3S2480;D3S3590;G64904;PMC55343P6;RH93717;SHGC-149999 FLJ16025 OTTHUMP00000209190;P5-ATPase;probable cation-transporting ATPase 13A5 protein-coding ENSG00000187527 HGNC:31789 18597 PROVISIONAL 735332 ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 1 1 1 p21 115144421 115176022 + 116914802 116948069 + 116372180 116404774 + 1579863;1580863;1579862;6480464;6907045;7349365 14993422;23827367;8082931 10473631;10516168;10636900;11027149;11139403;11404365;11509477;11546672;11564973;11832419;11887161;11901144;11926353;12031509;12093728;12461183;12477932;12519789;12671055;12788896;14522987;14555664;14597563;14685860;14742675;14759258;15069082;15071553;15383549;15489334;15515123;15671290;16027165;16169070;16196087;16230337;16243970;16430714;16498080;16708288;16710414;16723354;16730713;16799092;16893516;17081065;17176442;17220478;17255364;17446412;17446437;17550899;17881356;18094063;18348163;18522992;18768923;18769045;18781797;18801933;19019082;19058785;19109419;19243476;19542013;19638348;19683723;1970326;19751721;1975705;19863947;19865785;19913121;20065300;20305087;20332111;20427472;20450619;20473970;20628086;20964587;21043236;21081666;21139048;21141520;21145461;21163940;21319273;21449573;21498719;21565611;2158121;21890473;21906983;21963094;21987572;22053931;22268729;22269832;22304920;22505724;22565168;22586326;22678362;22797923;22797925;23000965;23048038;23125841;23254330;23349050;23416519;23455922;23464991;23602568;23798571;23913004;24082052;24179102;24275648;24304834;2430951;24391932;24503769;24583282;24639526;24797263;24816145;25015289;2842249;2887455;2891135;3030810;3035563;3036582;7536695;7711835;7775468;8391840;8833915;8918259;9159180;9481617 476 P05023;Q5TC01;Q5TC02;Q5TC05 ABBA01068487;AK293689;AK295095;AK296362;AK296384;AK308418;AK314777;AL136376;AL531892;AMYH02001791;AY642124;AY946013;BC001330;BC003077;BC050359;BF795089;CH471122;DC335233;J03007;L76938;M16793;M16794;M27572;M27579;M30310;NM_000701;NM_001160233;NM_001160234;U16798;XM_006710655 AAA35573;AAA35574;AAA51801;AAA51803;AAA92713;AAC50131;AAD56251;AAD56252;AAH01330;AAH03077;AAH50359;AAX55908;ABM82808;ABW03450;BAG37313;BAH11571;BAH11971;BAH12332;BAH12337;EAW56644;EAW56645;EAW56646;EAW56647;EAW56648;NP_000692;NP_001153705;NP_001153706;P05023;XP_006710718 Hs.371889 1665482;1735892;1740783;1850718;2140790;2179949;2217046;5037552 A001Z44;AL009633;ATP1A1_2746;D1S1924E;D1S3311;D8S2279;RH17421;SHGC-75376 MGC3285;MGC51750 Na(+)/K(+) ATPase alpha-1 subunit;Na+, K+ ATPase alpha subunit;Na+/K+ ATPase 1;Na, K-ATPase, alpha-A catalytic polypeptide;Na,K-ATPase alpha-1 subunit;Na,K-ATPase catalytic subunit alpha-A protein;OTTHUMP00000013935;sodium pump 1;sodium pump subunit alpha-1;sodium-potassium ATPase catalytic subunit alpha-1;sodium-potassium-ATPase, alpha 1 polypeptide;sodium/potassium-transporting ATPase subunit alpha-1 APPROVED protein-coding ENSG00000163399 HGNC:799 01662 182310 REVIEWED 736008 ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008] 1 1 1 q23.2 133154306 133182156 + 160085520 160113381 + 160115730 160143591 + 1580863;1358436;1601253;1601250;1601251;1601252;1601254;6480464;6903342;6903354;6907045;7240710;8554872;8699517 11257061;11768735;12953268;14576983;15644428;16243970;16286513;18424620 10372716;10636900;10642400;11404365;12477932;12496141;12529322;12539047;12805306;14667076;14685860;14690302;14702039;14742675;14871878;15071553;15133718;15159495;15174025;15210532;15286158;15308625;15383549;15459825;15489334;15569317;15911117;16026932;16037212;16088919;16110494;16344534;16344560;16430714;16437583;16508934;16508935;16538223;17119788;17446412;17473835;17727731;17877748;17952365;18028407;18028456;18052210;18056581;18184292;18294248;18451712;18483709;18498390;18513263;18644608;18728015;18811707;18957371;19007941;19058785;19199261;19372756;19638348;19683723;19751721;19874388;19913121;20065300;20100892;20301562;20473970;20628086;20720542;20837964;20936682;20952631;21139048;21145461;21398422;21533730;2158121;21890473;21906983;21963094;21987572;22013243;22053931;22117059;22433860;22505724;22565168;22661290;22797923;22936730;23000965;23241943;23474907;23821026;23838748;23918834;23954377;24097848;24356962;24639526;2477373;24816145;24928127;2537767;2842249;3035563;3036582;8125298;8391840;9159180;9403481;9579893;9872452 477 B1AKY9;B4DIQ8;H0Y7C1;P50993 AB018321;ABBA01016617;AK091617;AK124581;AK126573;AK295048;AK295729;AK299460;AK308773;AK314296;AL121987;AL831991;AL831997;AMYH02002021;AMYH02002022;AY946014;BC013680;BC047533;BC052271;CH471121;DA221602;EB386326;J05096;M16795;M27578;NG_008014;NM_000702;Y07494 AAA35575;AAA51797;AAA51799;AAH52271;AAX55909;BAA34498;BAG36951;BAG52393;BAG54055;BAG54347;BAG58098;BAG58570;BAG61427;CAA68793;EAW52739;EAW52740;EAW52741;EAW52742;NP_000693;P50993 Hs.34114 1734480;1736294;1742449;1776972;1797306;1850249;2125014;2177301;5017576;5092630 A005C13;ATP1A2;ATP1A2_1794;D1S1763E;D1S2042E;G32224;GDB:197004;RH69645;SHGC-31641;WI-21610 FHM2;MGC59864;MHP2 Na(+)/K(+) ATPase alpha-2 subunit;Na+/K+ ATPase, alpha-A(+) catalytic polypeptide;Na+/K+ ATPase, alpha-B polypeptide;OTTHUMP00000025754;OTTHUMP00000029880;OTTHUMP00000038365;sodium pump subunit alpha-2;sodium-potassium ATPase;sodium-potassium ATPase catalytic subunit alpha-2;sodium/potassium-transporting ATPase alpha-2 chain;sodium/potassium-transporting ATPase subunit alpha-2 1643514;2289625 BW260_H;BW481_H APPROVED protein-coding ENSG00000018625 HGNC:800 01665 104290;182340;602481 REVIEWED 732644 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 19 19 19 q13.31 39270362 39298001 - 42470628 42498428 - 41966476 41994276 - 1580863;1358437;6480464;6907045;7240710;8554872;8699517 9646882 10443882;10636900;11546672;12477932;12634653;14702039;15071553;15260953;15462673;15489334;16712791;16713569;17244347;17282997;17446412;17516473;17595045;18184478;18957371;19058785;19351654;19683723;19751721;20065300;20301294;20301334;20576601;21072501;21139048;21181095;21196491;21498719;2158121;21890473;21906983;21963094;21987572;22053931;22423096;22505724;22842232;22850527;22924536;23000965;23409136;23464991;23483595;23527305;23963607;24356962;24391932;24431296;24523486;24639526;24739246;24816145;2834163;2838329;2842249;2887455;2907504;3030810;3035563;3036582;8125298 478 M0QXF2;M0R116;P13637;Q53ES0 ABBA01040826;ABBA01040827;ABBA01040828;AC010616;AK054736;AK094628;AK122693;AK223569;AK293784;AK295078;AK295833;AK296557;AK307921;AK316069;AL832884;AMYH02036138;AY946015;BC009282;BC009394;BC013763;BC015566;BX478337;CB156520;CH471126;DB482528;M27577;M28286;M28293;M37457;NG_008015;NM_001256213;NM_001256214;NM_152296;X12910;XM_005258953 AAA51798;AAA52285;AAA52286;AAA58380;AAH09282;AAH09394;AAH15566;AAX55910;ADZ15542;BAD97289;BAG51420;BAG52899;BAG53671;BAH11595;BAH11966;BAH12194;BAH12387;BAH14440;CAA31390;EAW57089;NP_001243142;NP_001243143;NP_689509;P13637;XP_005259010 Hs.515427 1336425;1338187;1339937;1670845;1742439;2110889;2124404;2217048 ATP1A3_2763;D19S198;D19S265E;D19S587;D19S900;GDB:196994;RH78939;hsatpn22 AHC2;DYT12;MGC13276;RDP Na(+)/K(+) ATPase alpha(III) subunit;Na(+)/K(+) ATPase alpha-3 subunit;Na+/K+ ATPase 3;OTTHUMP00000174455;OTTHUMP00000174456;sodium pump 3;sodium pump subunit alpha-3;sodium-potassium ATPase catalytic subunit alpha-3;sodium-potassium-ATPase, alpha 3 polypeptide;sodium/potassium-transporting ATPase alpha-3 chain;sodium/potassium-transporting ATPase subunit alpha-3 APPROVED protein-coding ENSG00000105409 HGNC:801 01666 128235;182350;601338;614820 REVIEWED 733097 ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 133190120 133225532 + 160121352 160156767 + 160151562 160186977 + 1580863;6480464;6907045;8554872 10227850;10764792;12112599;12119109;12477932;12763850;14702039;15071553;15489334;16175638;16344560;16710414;16894555;1981991;21145461;2158121;21890473;21906983;21963094;22053931;22505724;23000965;2887455;3035563;3036582;7809153 480 E9PRA5;Q13733 ABBA01016614;ABBA01016615;ABBA01016616;ABBA01016617;AF310646;AF352828;AF390027;AF421887;AF430843;AF459737;AF506797;AK098076;AK308286;AL121987;AL833335;AMYH02002022;AMYH02002023;AY039031;BC028297;BC036052;BC068570;BC094801;BX647234;CH471121;DB094047;M16796;NM_001001734;NM_144699;XM_005245212;XM_006711340 AAA51800;AAH28297;AAH94801;AAK72396;AAL35818;AAL66357;AAM20793;AAQ07964;BAC05228;EAW52737;EAW52738;NP_001001734;NP_653300;Q13733;XP_005245269;XP_006711403 Hs.662219 1687730;2110269 ATP1A4_8220;RH94243 ATP1A1;ATP1AL2;MGC25056 ATPase, Na+/K+ transporting, alpha polypeptide-like 2;Na(+)/K(+) ATPase alpha-4 subunit;Na+/K+ ATPase 4;Na+/K+ ATPase, alpha-D polypeptide;Na,K-ATPase subunit alpha-C;OTTHUMP00000029890;OTTHUMP00000231443;sodium pump 4;sodium pump subunit alpha-4;sodium-potassium ATPase catalytic subunit alpha-4;sodium/potassium-transporting ATPase alpha-4 chain;sodium/potassium-transporting ATPase subunit alpha-4 APPROVED protein-coding ENSG00000132681 HGNC:14073 09541 607321 REVIEWED 1352922 ATP1B1P1 ATPase, Na+/K+ transporting, beta 1 polypeptide pseudogene 1 4 4 4 p13 42476543 42478723 + 42031102 42033282 + 42029085 42031265 + 2559024;2842249 485 ABBA01014279;ABBA01014280;AC113151;AMYH02009102;M25159;NG_001081 1744333;1852233 GDB:451712;SHGC4-259 ATP1BL1 APPROVED pseudo HGNC:809 INFERRED 735774 ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010] 1 1 1 q24 142186000 142212016 + 169075947 169101960 + 169106709 169132722 + 1580863;6480464;6907045;7240710;7349365;8554872 23827367 10636900;11193188;11534180;12093728;12477932;12558975;12754519;1301170;14597563;15071553;15086469;15489334;15606899;15851553;16169070;16230337;16339171;16341674;16430714;16478973;16696853;16710414;16799092;17255364;17947299;18522992;18727914;19064610;19305409;19322201;19322565;19536175;19542013;19563793;19619434;19664334;19664597;19683723;19694409;19913121;20065300;20453000;20458337;20628086;20926452;21085665;21104370;21139048;21141520;21449573;2158121;21642423;21771789;21881522;21900206;21963094;22433860;22990118;23009595;23022198;23048038;23166209;24098465;2538450;2555225;2559024;2842249;2887455;3008098;7499094;7536695 481 A3KLL5;A6NGH2;B7Z9S8;P05026;V9GYR2 AA507932;AA514770;ABBA01027954;ABBA01027955;AK290181;AK296059;AK316043;AL031726;AMYH02002111;AY545986;AY946016;BC000006;BE223067;BG702024;BM762099;BQ934151;BT009787;CD106723;CD722755;CH471067;CR407616;HI573972;M25160;NG_023230;NM_001677;U16799;X17161 AAA36352;AAC50132;AAH00006;AAP88789;AAT11781;AAX55911;BAF82870;BAG58822;BAH14414;CAA35040;CAG28544;CBX47475;EAW90832;EAW90833;NP_001668;P05026 Hs.291196 1652972;1664048;1742191;1744333;1769899;1847832;5017566;5491441 ATP1B1;GDB:193196;GDB:451712;MARC_12181-12182:1004710927:1;SHGC-75866;SHGC-75869;SHGC-75881;WI-14725 ATP1B;MGC1798 Beta 1-subunit of Na(+),K(+)-ATPase;Na, K-ATPase beta-1 polypeptide;OTTHUMP00000032537;OTTHUMP00000032538;adenosinetriphosphatase;atpase na+/k+ transporting beta 1 polypeptide;sodium pump subunit beta-1;sodium-potassium ATPase subunit beta 1 (non-catalytic);sodium/potassium-dependent ATPase beta-1 subunit;sodium/potassium-transporting ATPase beta-1 chain;sodium/potassium-transporting ATPase subunit beta-1 1643514;2289625 BW260_H;BW481_H APPROVED protein-coding ENSG00000143153 HGNC:804 01663 145500;182330 REVIEWED 736555 ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7580634 7587472 + 7554254 7561089 + 7650936 7657771 + 1580863;6480464;6907045;8554872 10636900;10662545;11027149;11193188;12477932;12539047;12558975;12958655;15071553;15294280;15489334;16430714;16865689;1688561;1699290;17411440;17683073;18676680;19170196;19371356;19542013;19625176;19683723;19692168;19764716;20065300;20656459;20937802;21196491;2158121;21963094;22675492;2538450;7711835;8305453;8889548;8918259;9159180;9524271 482 I3L1V9;I3L3J8;P14415 ABBA01054878;AC007421;AF007876;AK290143;AL120033;AL532023;AMYH02032910;AY946017;BC035801;BC126175;BG708115;BM664502;BM703745;BM925700;BQ718053;CD671350;CH471108;D87330;M81181;NM_001678;U45945 AAA51805;AAC39686;AAC50873;AAI26176;AAX55912;ADR82909;BAF82832;EAW90147;EAW90148;NP_001669;P14415 Hs.643540 1850743;2135612;2152420 G15933;RH11458;SGC31498 AMOG Na, K-ATPase beta-2 polypeptide;adhesion molecule in glia;adhesion molecule on glia;sodium pump subunit beta-2;sodium-potassium ATPase subunit beta 2 (non-catalytic);sodium/potassium-dependent ATPase beta-2 subunit;sodium/potassium-dependent ATPase subunit beta-2;sodium/potassium-transporting ATPase beta-2 chain;sodium/potassium-transporting ATPase subunit beta-2 APPROVED protein-coding ENSG00000129244 HGNC:805 01664 182331 REVIEWED 6481283 ATP1B3-AS1 ATP1B3 antisense RNA 1 100874077 AC112504 APPROVED ncrna HGNC:40088 733031 ATP1B3 ATPase, Na+/K+ transporting, beta 3 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008] 3 3 3 q23 140019481 140069148 + 141595424 141645382 + 141876628 141926540 + 1580863;6480464;6907045 10636900;12456588;12477932;12558975;12754519;14702039;15071553;15231747;15489334;17081065;17176442;17353931;17446412;18522992;18781797;19542013;20065300;21139048;2158121;21890473;21906983;21963094;21987572;22990118;23000965;23022198;23798571;24236063;24816145;6289898;8798450;9457675 483 C9J6S2;C9JA36;C9JXZ1;F8WBY4;H7C4L9;H7C547;P54709 ABBA01059039;AC112504;AF005896;AK094673;AK131061;AK293697;AMYH02007808;AMYH02007809;AMYH02007810;AY946018;BC001469;BC011835;BI462090;CH471052;NM_001679;U51478 AAB61713;AAC50665;AAH11835;AAX55913;BAH11573;EAW78982;EAW78983;EAW78984;EAW78985;EAW78986;EAW78987;EAW78988;EAW78989;NP_001670;P54709 Hs.477789 1671816;1681616;1688931;1714123;1739303;1776229;1797308;2111079;2161471;5015961;5016478;5017227;5017266;5020881;5021872;5037552;5092612;5093834 A009X29;ATP1B3_1858;D15S1477;D3S1501E;D3S3294E;D8S2279;G32213;G32951;G38154;GDB:434012;L17709;L18506;RH119669;RH12662;RH66571;RH66869;SHGC-16162;sY3084 ATPB-3;CD298;FLJ29027 Na, K-ATPase beta-3 polypeptide;OTTHUMP00000214031;sodium pump subunit beta-3;sodium-potassium ATPase subunit beta 3 (non-catalytic);sodium/potassium-dependent ATPase beta-3 subunit;sodium/potassium-dependent ATPase subunit beta-3;sodium/potassium-transporting ATPase beta-3 chain;sodium/potassium-transporting ATPase subunit beta-3 APPROVED protein-coding ENSG00000069849 HGNC:806 03521 601867 REVIEWED 1348014 ATP1B3P1 ATPase, Na+/K+ transporting, beta 3 pseudogene 2 2 2 p16.1 60805127 60806664 - 60961525 60963062 - 60734390 60735927 - 9457675 484 ABBA01075337;AC012498;AF005898;AMYH02003913;NG_000849 AAB61675 1681616;1688931;1776229;2161471;5092612 G32213;RH12662;RH66571;RH66869;SHGC-16162 pseudo HGNC:807 INFERRED 736275 ATP1B4 ATPase, Na+/K+ transporting, beta 4 polypeptide This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X X X q24 119961554 119982718 + 119495940 119517104 + 120362085 120383249 + 631939;1580863;6480464;6907045 10456317 12477932;15489334;16344560;16430714;17592128;23333304 23439 B7ZKV9;B7ZKW0;Q9UN42 AA436959;ABBA01049595;ABBA01049596;ABBA01049597;ABBA01049598;AC006962;AF158383;AF158384;AK309999;AMYH02040361;BC117227;BC143404;BC143406;BC143407;CH471107;DA895576;NG_016773;NM_001142447;NM_012069 AAD49692;AAD49693;AAI17228;AAI43405;AAI43407;AAI43408;ADR83150;EAX11885;EAX11886;NP_001135919;NP_036201;Q9UN42 Hs.292599 1702010;1770317;1773399;5014003;5015861;5022450;5022576;5109281;7185938 AL008940;AL021884;D10S16;D10S275;D17S1136;D1S1361;D1S1425;DXS1320 Na,K-ATPase beta m-subunit;OTTHUMP00000023939;OTTHUMP00000023940;X,K-ATPase beta-m subunit;x/potassium-transporting ATPase subunit beta-m APPROVED protein-coding ENSG00000101892 HGNC:808 06453 REVIEWED 731640 ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013] 16 16 16 p12.1 27844578 27896644 + 28889192 28915830 + 28878488 28904509 + 734618;6480464;6907045;7204695;7240710;8554872;8699517 19789383;8841193 10551848;10914677;11402072;11438520;11526231;12032137;12477932;12479237;12525698;12692302;12975374;1329967;14638697;14702039;15071553;15718407;15767202;15972723;16192278;16410239;16642550;16754798;16933204;17010426;17110338;1746562;17728322;18947188;18953100;19061639;19079260;19644701;21145461;21576492;21726808;21890473;21906983;21963094;22505724;22609207;22939629;23911890;24550385;24639526;24816145;2842876;2936465;8040329;8729696;8825625;8889548;9295312;9367679;9405806;9575189;9642673 487 H3BTF1;H3BTW4;H3BUT9;H3BUU3;H3BVB2;O14983;Q7Z675 ABBA01045684;ABBA01045685;AC109460;AC133550;AK092691;AK128456;AK291314;AL706356;AMYH02031815;AMYH02031816;AMYH02031817;BC037354;BC104452;BC104453;BU737186;BX537389;BX537784;BX647365;BX647366;BX647367;BX647368;BX648544;BX649072;CH471267;HB975088;HD032498;NG_023327;NM_001286075;NM_004320;NM_173201;U96773;U96781 AAB53112;AAB53113;AAH37354;AAI48654;BAF84003;BAG52597;BAG54679;CAD97631;CAD97841;CBG22289;CBV35450;EAW52006;NP_001273004;NP_004311;NP_775293;O14983 Hs.657344 1681849;1690043;2110729 RH48558;SH2B_9440;SHGC-61052 ATP2A;SERCA1 OTTHUMP00000162561;OTTHUMP00000162562;SR Ca(2+)-ATPase 1;calcium pump 1;calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform;endoplasmic reticulum class 1/2 Ca(2+) ATPase;sarcoplasmic/endoplasmic reticulum calcium ATPase 1 APPROVED protein-coding ENSG00000196296 HGNC:811 00157 108730;601003 REVIEWED 732893 ATP2A3 ATPase, Ca++ transporting, ubiquitous This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3838972 3879550 - 3827163 3867758 - 3923869 3964464 - 68726;6480464;6907045;7204695;8554872 11208768;19789383 11956212;11986315;12207029;12477932;12503734;12524443;12540840;12665801;15028735;15071553;15489334;15972967;16250893;16410239;16725111;16973504;17353931;17474147;18068335;18295663;18947868;19100511;19135027;19225163;19650915;19962989;21319273;21906983;21963094;22190034;22304920;22354994;22505724;22948776;23157274;23235306;23752268;24213720;24457600;24816145;8288608;8809064;9593748;9843705 489 A8K9K1;Q93084 AA643105;ABBA01054751;ABBA01054752;ABBA01054753;AC005940;AF068220;AF068221;AF458228;AF458229;AK292716;AMYH02032810;AMYH02032811;AY460339;BC035729;CH471108;JC328780;JC328782;JC328784;JC328786;JC328788;JC328790;NG_029041;NM_005173;NM_174953;NM_174954;NM_174955;NM_174956;NM_174957;NM_174958;S68239;XM_005256656;Y15724;Y15737;Y15738;Z69880;Z69881 AAB29700;AAC24525;AAC24526;AAH35729;AAL78967;AAL78968;AAR15415;ABM84243;ABW03610;BAF85405;CAA75739;CAA75747;CAA75748;CAA93736;CAA93737;CDM55639;CDM55640;CDM55641;CDM55642;CDM55643;CDM55644;EAW90460;EAW90461;EAW90462;EAW90463;EAW90464;EAW90465;EAW90466;EAW90467;EAW90468;EAW90469;EAW90470;NP_005164;NP_777613;NP_777614;NP_777615;NP_777616;NP_777617;NP_777618;Q93084;XP_005256713 Hs.513870 1694502;1736939;1848452;5019587;5092434;5092436 D17S1575;G42991;G54311;G54314;G54315;RH12619 SERCA3 ATPase, Ca(2+)-transporting, ubiquitous;SR Ca(2+)-ATPase 3;adenosine triphosphatase, calcium;calcium pump 3;calcium-translocating P-type ATPase;sarco/endoplasmic reticulum Ca2+ -ATPase;sarco/endoplasmic reticulum Ca2+ ATPase;sarcoplasmic/endoplasmic reticulum calcium ATPase 3 APPROVED protein-coding ENSG00000074370 HGNC:813 03568 601929 REVIEWED 732984 ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 12 12 12 q21.3 89653490 89721509 - 89981826 90103130 - 89588049 89708836 - 1580863;2317726;6480464;7204695;8554872 19789383;20137670 10493800;10748016;11152753;11786550;12477932;12763866;12784250;12851406;1332771;15071553;15101689;15123239;15911623;16328033;16412504;16488415;16669348;1674727;16933204;17081983;1827443;18657858;18781797;18929409;19017653;19070897;19144698;19396169;19430479;19840794;19892708;19913121;19946888;19960030;20414254;20479155;20628086;20700443;20811636;20852445;20921432;21045733;21126504;21139048;21400627;21572416;21890473;21906983;21909110;21963094;21987572;22053931;22113938;22190034;22229515;22246182;22751097;23000965;23079715;23817774;24001895;24244333;24457600;24584935;24639526;25036637;2528729;2548572;2844759;7694502;7989379;8245032;8386431;8396145;8619474;8634322;8889548;9020386;9110174 490 E7ERY9;F8W1V5;H0YHH6;P20020 AB208896;ABBA01053417;AC009522;AC025034;AC068641;AF070606;AK024895;AK027053;AK308723;AMYH02026905;AY740526;BC015346;BM974301;CH471054;DQ201776;J04027;L14561;M25824;M95541;M95542;NG_029485;NM_001001323;NM_001682;S49852;U15686;U15687;XM_005268919 AAA35999;AAA36000;AAA58381;AAA58382;AAA58383;AAA60983;AAA60984;AAA74511;AAB24324;AAD09924;AAD09925;AAH15346;AAV41065;ABG24240;BAD92133;EAW97429;EAW97430;EAW97431;EAW97432;EAW97433;EAW97434;NP_001001323;NP_001673;P20020;XP_005268976 Hs.506276 1654807;1736312;1746519;1771020;1771327;2156005;2161885;2190515;2191429;2219018 ATP2B1_4221;D12S1250E;D12S2009;EST13H11;G64515;MARC_21823-21824:1025099477:1;RH45012;RH66423;WI-18859;WI-7734 PMCA1;PMCA1kb OTTHUMP00000242513;OTTHUMP00000242514;OTTHUMP00000242515;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-ATPase;plasma membrane calcium-transporting ATPase 1 APPROVED protein-coding ENSG00000070961 HGNC:814 00158 108731 REVIEWED 731733 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008] 12 12 12 q24.11 110344773 110414642 + 110719032 110788898 + 110281227 110351093 + 734619;6480464;6903963;6904139;6771209;6904140;6904142;6892953;6907045;7204695;7240710;8554872;8699517 10080178;18046670;19789383;21216827;21217071;21300842;21441944;21691940 10441323;10441324;10441325;10809745;11121153;11244492;11402072;11526231;11725862;11854448;11945024;12032137;12072062;12477932;12479238;12542527;12659872;12670936;12804600;12805933;12925205;12975374;14638697;14702039;14749390;15071553;15186327;15215242;15302935;15316170;15489334;15489859;15582584;15718407;15927817;15972723;16196087;16368801;16402920;16410239;16552539;16669348;16675202;16754798;16766529;16899508;16958257;16965263;16973504;16987514;17009399;17081983;17110338;17116488;17234728;17257557;17314412;17353931;17395056;17439322;17506935;17515962;17526652;17588601;17597815;17635506;18068335;18071073;18164028;18279980;18295663;18464913;18482030;18591429;18658259;18781797;18953100;18971376;18979109;19019082;19095005;19252085;19322201;19327826;19502158;19541629;19644701;19649297;19650915;19671701;19913121;19962989;20139366;20204653;20223560;20423818;20473970;20528919;20586837;20628086;20687374;20716843;20857128;20964649;21081666;21139048;21145461;21152695;21156808;21195084;21252943;21343306;21515674;21519848;21527373;21616533;21878908;21890473;21900893;21906983;21963094;21987572;22004489;22045735;22053931;22096575;22174317;22190034;22240811;22247554;22277942;22304920;22329366;22360692;22472004;22505724;22586326;22679139;22779921;22814319;22909361;22939629;22990118;23000965;23024360;23055483;23066896;23229631;23254330;23337962;23356892;23438482;23455922;23464991;23798571;23804254;23843619;23956138;24249716;24284796;24337577;24390139;24457600;24508653;24583282;24639526;24816145;25027693;25036637;2844796;7929371;8406504;9295312;9788433 488 F8W1Z7;H7C5W9;J3QSY6;P16615 ABBA01005097;ABBA01005098;AC006088;AK000300;AK095382;AK293877;AL117505;AMYH02027181;AMYH02027182;AY186578;BC035588;BC065753;BG773489;BI553880;BX648282;CH471054;M23114;M23115;M23116;M23278;NG_007097;NM_001681;NM_170665;XM_005253888;XR_243009 AAA52757;AAA52758;AAA53193;AAA53194;AAH35588;AAO47398;BAG57266;EAW97902;EAW97903;EAW97904;EAW97905;EAW97906;EAW97907;NP_001672;NP_733765;P16615;XP_005253945 Hs.506759 1650439;1669120;1675985;1736188;1736242;1855181;1855183;2191515;2218270;5093682;5491770 ATP2A2;ATP2A2__4219;D12S1133E;D12S1188E;D12S1965;D12S2026;G15902;G32862;MARC_24304-24305:1030108971:1;RH67554;WI-18984 ATP2B;DAR;DD;DKFZp686P0211;FLJ20293;FLJ38063;MGC45367;SERCA2 ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2;OTTHUMP00000240820;OTTHUMP00000240822;OTTHUMP00000246198;SR Ca(2+)-ATPase 2;calcium pump 2;calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform;cardiac Ca2+ ATPase;endoplasmic reticulum class 1/2 Ca(2+) ATPase;sarcoplasmic/endoplasmic reticulum calcium ATPase 2 APPROVED protein-coding ENSG00000174437 HGNC:812 00161 101900;108740;124200 REVIEWED 6481035 ATP2B2-IT1 ATP2B2 intronic transcript 1 (non-protein coding) 100874324 AC018839 ncrna HGNC:41309 6481038 ATP2B2-IT2 ATP2B2 intronic transcript 2 (non-protein coding) p25.3 100874325 AC018502;AI126440;BX110985;NR_046766 Hs.143004 ncrna HGNC:41310 VALIDATED 731628 ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X X q28 153035263 153082068 + 152783905 152848387 + 153518447 153582929 + 1580863;6480464;7204695;7240710;8699517;8554872 19789383 10854409;11152753;12477932;12784250;14702039;15071553;15101689;1531651;17336174;18029348;19733838;20811636;21890473;21906983;21963094;21987572;22912398;23000965;23416519;24082052;24179102;24244333;24639526;7989379;8187550;8245032;8634322;8687195;8765088;8889548 492 Q16720;Q6ZP23 ABBA01045383;ABBA01045384;ABBA01045385;ABBA01045386;AF274858;AK090838;AK094500;AK130194;AK307765;AK308705;AMYH02040836;BC047580;BC130009;BG739902;BM680649;BM695792;BM805938;BM986989;BQ878721;BU183973;BU790224;BU790521;CH471172;DQ201779;NG_015896;NM_001001344;NM_021949;U15689;U15690;U57971;U60414;U82695;XM_005274689;XM_005274690;XM_005274691;XM_005274692;XM_005274693;XM_006724823 AAA60986;AAA60987;AAB09762;AAB38530;AAI30010;ABG24243;BAC85302;EAW72858;EAW72859;EAW72860;NP_001001344;NP_068768;Q16720;XP_005274746;XP_005274747;XP_005274748;XP_005274749;XP_005274750;XP_006724886 Hs.533956;Hs.658008 1649035;1683287;1777455;2166189 A006S03;DXS7001E;RH80841;WI-15046 CFAP39;CLA2;OPCA;PMCA3;PMCA3a;SCAX1 OTTHUMP00000025916;OTTHUMP00000025917;OTTHUMP00000025918;OTTHUMP00000214897;cerebellar ataxia 2 (X-linked);cilia and flagella associated protein 39;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-transporting ATPase 3 APPROVED protein-coding ENSG00000067842 HGNC:816 02057 300014;302500 REVIEWED 736839 ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 p25.3 10301512 10482740 - 10365707 10733131 - 10324023 10707955 - 1580863;6480464;7204695;7240710;8554872 19789383 11152753;11259493;11274188;11786550;12107410;12477932;12624087;12763866;12784250;1313367;1427863;15071553;15101689;15123239;15765049;15829536;15926914;16216224;17234811;17488275;1827443;19043545;19299509;19379709;19850283;19913121;20211863;20301607;20379614;20628086;20663896;20971118;21672522;21757185;21890473;21906983;21963094;21987572;22047666;22053931;22349217;23000965;23620727;24529757;24639526;7929331;7989379;8162598;8187550;8245032;8428366;8634322;9668038;9697703 491 H0Y7S3;Q01814;Q4J699;Q4LE63 AA197323;AB210008;ABBA01020379;ABBA01025233;ABBA01025234;AC018495;AC018502;AC018839;AC022384;AC090841;AK308898;AL134596;AMYH02006256;AMYH02006257;AMYH02006258;BC019853;BC128575;BX489007;CA391502;CH471055;CK023951;DQ201777;DQ201778;FB292361;KF457572;KF457574;KF457577;KF495694;KF510221;L00620;L20977;M97260;NG_012046;NM_001001331;NM_001683;R53305;S95738;S95743;S95758;U15688;X63575;XM_005265179;XM_006713175;XM_006713176;XM_006713177;XM_006713178;XM_006713179;XM_006713180;XM_006713181;XM_006713182 AAA08376;AAA08377;AAA08378;AAA36456;AAA50877;AAA51893;AAA60985;ABG24241;ABG24242;BAE06090;CAA45131;CAP58599;EAW64079;EAW64080;EAW64081;EAW64082;EAW64083;EAW64084;NP_001001331;NP_001674;Q01814;XP_005265236;XP_006713238;XP_006713239;XP_006713240;XP_006713241;XP_006713242;XP_006713243;XP_006713244;XP_006713245 Hs.268942 1666180;1694828;1726641;1727985;1730089;1730483;1735282;1848089;2114459;2139174;2140731;2144337;2153141;2157536;2218728 ATP2B2_4222;D3S1038;D3S2930E;D3S3381;D3S3903;D3S3990;D3S601;G10673;G43664;G62555;G63412;IB1403;NIB487;SHGC-76702;SHGC-76732 PMCA2;PMCA2a;PMCA2i OTTHUMP00000158863;OTTHUMP00000178534;OTTHUMP00000178535;OTTHUMP00000178537;OTTHUMP00000222615;plasma membrane Ca(2+)-ATPase;plasma membrane Ca2+ pump 2;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-transporting ATPase 2 APPROVED protein-coding ENSG00000157087 HGNC:815 00160 108733;601386 REVIEWED 1348952 ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q32.1 176726268 176843554 + 203595915 203713209 + 203626787 203744081 + 1580863;6480464;1599351;7204695;8554872 17092653;19789383 10737800;10748016;11076863;11152753;11230166;11274188;11591728;11751908;12477932;12511555;12540962;12763866;12784250;12944246;1313367;15071553;15101689;15123239;15133509;15145946;15292209;1531651;15489336;15955804;16080782;16216224;16381901;16412504;1674727;16973504;16978418;17242280;17393022;17883705;17957572;18591664;18657858;19034380;19073225;19278978;19287093;19536175;19755660;19946888;19996092;20211863;20379614;21073872;21139048;21139678;21167220;2137451;21890473;21906983;22480210;22505724;22525089;22747683;22767601;22895189;23000965;23263863;23266958;23444010;23549614;23602568;23798571;23830917;24583174;24816145;2963820;2966397;7945253;7989379;8245032;8530416;8634322;8670083;8700162;9105688;9182531;9430700;9880546 493 H0YDG5;H7BY13;H7BZS8;P23634 ABBA01027472;ABBA01027473;AC114402;AK026443;AK292458;AK307104;AL513343;AL601702;AL706212;AMYH02002516;AMYH02002517;AW888226;BC062445;BC140774;BC150293;BF740130;BF985985;BX537444;BX537745;BX647701;CH471067;CR749393;CR936708;DN997129;DQ201780;DQ201781;M25874;M83363;NG_029589;NM_001001396;NM_001684;U42026;U42061;U42062;U42378 AAA36455;AAA50819;AAB17577;AAB17578;AAB17579;AAB17580;AAI40775;AAI50294;ABG24244;ABG24245;BAF85147;CAD97686;CAH18241;CAL38204;CAL38232;EAW91483;EAW91484;EAW91485;EAW91486;EAW91487;NP_001001396;NP_001675;P23634 Hs.343522;Hs.733333 1335881;1651901;1692748;1858385;2128491;2128769;2132616;2132618;2140460;2140745;2149681;2155418;2160440;5115016;7185266 A001V38;AL034138;D1S2376;D1S387;D1S510;G19696;RH63844;RH64618;RH64645;SHGC-12393;SHGC-56960;SHGC-76187;SHGC-76189;SHGC-76196 ATP2B2;DKFZp686G08106;DKFZp686M088;MXRA1;PMCA4;PMCA4b;PMCA4x OTTHUMP00000034088;OTTHUMP00000034089;matrix-remodeling-associated protein 1;matrix-remodelling associated 1;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-transporting ATPase 4;sarcolemmal calcium pump APPROVED protein-coding ENSG00000058668 HGNC:817 00159 108732 REVIEWED 732511 ATP2C2 ATPase, Ca++ transporting, type 2C, member 2 ENCODES a protein that exhibits ATP binding (inferred); calcium-transporting ATPase activity (inferred); metal ion binding (inferred); INVOLVED IN calcium ion transmembrane transport (inferred); ion transmembrane transport (inferred); metabolic process (inferred); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH trichostatin A; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 q24.1 68704219 68799880 + 84402129 84497793 + 84368523 84464187 + 6480464;7204695;8554872 19789383 12975309;14702039;15071553;15677451;15831496;16332677;18676988;18839057;19646677;20379614;20887894;21906983;23144326;9734811 9914 B3KR57;H3BS90;O75185 AB014603;ABBA01016911;ABBA01016912;ABBA01016913;AC010551;AC022165;AK025424;AK091051;AK092737;AK300526;AK316128;AMYH02032565;AMYH02032566;AMYH02032567;AMYH02032568;AY358243;AY791884;BX648333;CH471114;CR749829;DB218862;KF456217;NM_001286527;NM_001291454;NM_014861;XM_006721355 AAI56685;AAQ88610;AAV54193;BAA31678;BAG52269;BAG62238;BAH14499;CAH18686;CAI46049;EAW95483;EAW95484;EAW95485;NP_001273456;NP_001278383;NP_055676;O75185;XP_006721418 Hs.6168 1643914;1682607;1703206;1776930;2162088;2182413 D16S2951;RH36547;RH65309;SGC31818;SHGC-60885;STS-N48584 DKFZp686H22230;KIAA0703;SPCA2 ATPase 2C2;calcium-transporting ATPase type 2C member 2;secretory pathway Ca(2+)-ATPase 2;secretory pathway calcium ATPase 2 protein-coding ENSG00000064270 HGNC:29103 13812 613082 VALIDATED 733912 ATP2C1 ATPase, Ca++ transporting, type 2C, member 1 The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 3 3 3 q22.1 129038713 129160803 + 130569327 130735556 + 130850483 131016712 + 1580863;704409;6480464;7204695;7240710;8554872;8699517 11125071;19789383 10615129;10718198;10767338;11124703;11741891;11841554;11874499;11966689;12477932;12707275;12761501;12804581;12810057;14632182;14632183;14702039;14747290;15071553;15191544;15336968;15489334;15545997;15623514;15811949;15955096;16192278;16297192;16303743;16332677;16344560;16484827;16540292;16621454;16644186;17503064;17911984;18205868;18211433;18247307;18259764;18266684;18372165;18709316;19126050;19144698;19322201;19426624;19775426;19946888;20055875;20226632;20236194;20237496;20363212;20403116;20604898;20837466;21139048;21187401;21571222;21883398;21890473;21906983;21963094;22124882;22505724;22543864;22607350;22639968;23000965;23442470;23474827;24352221;24457600;7981684 27032 B4E295;B4E2Q0;D6R9U9;D6REJ1;D6RGE9;D6RHV9;E7ERC6;H0Y8X9;H0Y9S7;H0Y9V7;H0YAH2;P98194 AB037768;AB209265;ABBA01059198;ABBA01059199;ABBA01059200;AC055733;AC097105;AF181120;AF181121;AF189723;AF225981;AJ010953;AK001684;AK074692;AK296470;AK299945;AK304175;AK304374;AK314342;AL833453;AMYH02007662;AMYH02007663;AY268374;AY268375;BC028139;BF669202;BF675663;BQ220831;BU188061;CH471052;DA405579;DC343471;DC345627;DC422788;HB975274;HD032684;NG_007379;NM_001001485;NM_001001486;NM_001001487;NM_001199179;NM_001199180;NM_001199181;NM_001199182;NM_001199183;NM_001199184;NM_001199185;NM_014382;XM_005247354;XM_005247355;XM_005247356;XM_005247357;XM_005247358;XM_005247359;XM_006713585 AAF26295;AAF26296;AAF27813;AAF35375;AAH28139;AAP30008;AAP30009;ABW03701;BAA91835;BAA92585;BAC11142;BAD92502;BAG36984;BAG61775;BAG65057;BAG65212;BAH12365;CAA09425;CBG22382;CBV35543;EAW79217;EAW79218;EAW79219;EAW79220;NP_001001485;NP_001001486;NP_001001487;NP_001186108;NP_001186109;NP_001186110;NP_001186111;NP_001186112;NP_001186113;NP_001186114;NP_055197;P98194;XP_005247411;XP_005247412;XP_005247413;XP_005247414;XP_005247415;XP_005247416;XP_006713648 Hs.584884 1653432;1670035;1748725;2106501;2113722;2126376;2136188;2136962;2156750;2173839;2218730 A002S47;AB060927;ATP2C1_3811;HT001__6609;RH11905;RH11935;RH12102;RH78727;SHGC-110366;SHGC-77338;SHGC-77341 ATP2C1A;BCPM;HHD;KIAA1347;PMR1;SPCA1;hSPCA1 ATP-dependent Ca(2+) pump PMR1;ATPase 2C1;ATPase, Ca(2+)-sequestering;HUSSY-28;OTTHUMP00000216066;OTTHUMP00000216067;OTTHUMP00000216068;OTTHUMP00000216069;OTTHUMP00000216070;OTTHUMP00000216071;OTTHUMP00000216072;OTTHUMP00000216073;OTTHUMP00000216074;OTTHUMP00000216075;OTTHUMP00000216076;OTTHUMP00000216253;atpase, ca++-sequestering;calcium-transporting ATPase type 2C member 1;secretory pathway Ca2+/Mn2+ ATPase 1 APPROVED protein-coding ENSG00000017260 HGNC:13211 05089 169600;604384 REVIEWED 1353349 ATP3 ATPase, Mg++ transporting 494 HGNC:818 737185 ATP4B ATPase, H+/K+ exchanging, beta polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008] 13 13 13 q34 95130374 95139808 - 114303119 114312513 - 113648804 113658198 - 1580863;1300048;6480464;6907045 10336993;10722662;11865975;12477932;12651853;1335958;14685860;14743830;15057823;15071553;15155714;15489334;16341674;16344560;1656976;17255364;18787507;19694409;2160952;21963094;21988832;23317218;7900835;9017763;9315713 496 P51164 AB008783;ABBA01019874;AK310129;AL442125;AMYH02028747;BC029059;BC042846;BI764514;BM782259;BM923761;BX100065;BX537316;CH471085;DA964061;KF455827;M75110;NM_000705 AAA35987;AAH29059;ABM81743;ABM84899;BAA23425;EAX09220;EAX09221;NP_000696;P51164 Hs.434202 2134093;7186188 STS-M75110 ATP6B ATPase, H+/K+ transporting, beta polypeptide;OTTHUMP00000178856;gastric H(+)/K(+) ATPase subunit beta;gastric H+/K+ ATPase beta subunit;gastric hydrogen-potassium ATPase, beta;potassium-transporting ATPase beta chain;potassium-transporting ATPase subunit beta;proton pump beta chain APPROVED protein-coding ENSG00000186009 HGNC:820 00669 137217 REVIEWED 734000 ATP4A ATPase, H+/K+ exchanging, alpha polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 32754548 32768023 - 36041095 36054560 - 35550193 35563658 - 1580863;6480464;6907045;8554872 10336993;1330887;14743830;15057824;15071553;15962365;17255364;18772363;19705497;2160952;2176086;21890473;21906983;21963094;23317218;24639526;24773566;3036582;8125298;8279517;9017763 495 M0R249;P20648;Q658V6 ABBA01018746;AC002389;AD000090;AK058032;AK223259;AK308474;AL832971;AMYH02035985;J05451;M27575;M63962;NM_000704 AAA35577;AAA35988;AAA51010;AAB50172;AAB64182;AAI67780;BAD96979;CAH56338;NP_000695;P20648 Hs.36992 1857766;2190491;2218732 ATP4A;ATP4A__4392;D19S1084 ATP6A ATPase, H+/K+ transporting, alpha polypeptide;H(+)-K(+)-ATPase alpha subunit;OTTHUMP00000045780;gastric H(+)/K(+) ATPase subunit alpha;gastric H+/K+ ATPase alpha subunit;gastric H,K-ATPase alpha subunit;gastric H,K-ATPase catalytic subunit;gastric hydrogen-potassium ATPase;potassium-transporting ATPase alpha chain 1;proton pump APPROVED protein-coding ENSG00000105675 HGNC:819 00668 137216 REVIEWED 734400 ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012] 18 18 18 q21 40472298 40486450 - 43664110 43684199 - 46084144 46104233 - 1300048;1580863;6480464;6907045;8699517;7240710;8554872 10077593;11381144;11410595;11741979;12110673;12477932;12601813;12614671;14702039;14749816;15047060;15161933;15324660;15489334;15862967;15952740;16009940;1602151;16196087;16344560;16378738;16714292;17148452;17620599;17623298;17643490;1830491;18457437;18781797;18850735;19016746;19056867;19064571;19110265;19135240;19261598;19343720;19405953;19460752;19531213;19596686;19717637;19738201;19946888;20020773;20085233;20186120;20381070;20462248;20473970;20618440;20819778;20877624;21080425;21081666;21110914;21139048;21145461;21319273;21481781;21565611;21575865;21817160;21825151;21832049;21890473;21906983;21963094;21979464;21987572;21988832;22098431;22113938;22188235;22268729;22505724;22939629;22944692;23000965;23055519;23125841;23181366;23246001;23254330;23364796;23395605;23398456;23402259;23428871;23443559;23455922;23463506;23596069;23599390;23667531;23798571;23862649;23874603;24140708;24244333;24583282;24654937;24816145;25015289;25027693;4517936;7498159;8065448;8086450;8168843;8428659;9284928;9461222;9834036 498 K7EJP1;K7EK77;K7EKV9;K7EM08;K7ENJ4;K7EQH4;K7EQU6;K7ERX7;K7ESA0;P25705;V9HW26 ABBA01022325;AC012569;AK092735;AK098765;AK129739;AK129804;AK129900;AK289457;AK294804;AK302272;AK310051;AMYH02034653;AMYH02034654;AU120644;AU143001;AW205533;AW207528;BC003119;BC007299;BC008028;BC011384;BC016046;BC019310;BC028335;BC035703;BC039135;BC042694;BC064562;BC067385;BT007209;CD244623;CH471088;CK002707;D14710;D28126;FJ224309;NG_041769;NM_001001935;NM_001001937;NM_001257334;NM_001257335;NM_004046;X59066;X65460 AAH03119;AAH07299;AAH08028;AAH11384;AAH16046;AAH19310;AAH39135;AAH64562;AAH67385;AAP35873;AAP36942;ABM85136;ABM92174;ACI46001;BAA03531;BAA05672;BAF82146;BAG52604;BAG57924;BAG63618;CAA41789;CAA46452;EAX01471;NP_001001935;NP_001001937;NP_001244263;NP_001244264;NP_004037;P25705 Hs.298280 1649084;1736560;1776819;1793330;5020274;5022322;5024761;5037552 D11S2560;D16S2555E;D8S2279;L18441;PMC20944P1;RH11585;RH36905;STS-AA020987 ATP5A;ATP5AL2;ATPM;COXPD22;HEL-S-123m;MC5DN4;MOM2;OMR;ORM;hATP1 ATP synthase alpha chain, mitochondrial;ATP synthase subunit alpha, mitochondrial;ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle;ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2;ATP sythase (F1-ATPase) alpha subunit;OTTHUMP00000163475;epididymis secretory sperm binding protein Li 123m;mitochondrial ATP synthetase, oligomycin-resistant;mitochondrial h+-atp synthase alpha subunit APPROVED protein-coding ENSG00000152234 HGNC:823 01258 164360;615228;616045 REVIEWED 1350409 ATP5A1P1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 1 9 p12 41016328 41030100 + 9284928 642545 AMYH02019795;AMYH02019796;AMYH02019797;BX248112;NG_016587 ATP5AP1 APPROVED pseudo HGNC:827 INFERRED 3340246 ATP5A1P10 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10 9 9 q13 66058841 66060270 + 66721435 66722864 + 100132619 CR788261;CR788267;NG_028188 pseudo HGNC:37668 INFERRED 1352266 ATP5A1P2 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2 2 2 2 q24.1 149739572 149739978 + 156126143 156126549 + 155269631 155270037 + 9284928 504 ABBA01004822;AC092662;AMYH02005022;NG_008671 ATP5AP2 APPROVED pseudo HGNC:828 INFERRED 1343558 ATP5A1P3 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3 16 16 16 q22.2 56352912 56354761 - 72038802 72040651 - 72004903 72006752 - 9284928 645443 ABBA01016796;AC009127;AMYH02032333;NG_008672;NG_016271 1649084;1736560 D16S2555E;STS-AA020987 ATP5AP3 APPROVED pseudo HGNC:829 INFERRED 1346824 ATP5A1P4 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 4 14 14 14 q23.2 43121137 43122746 - 63070831 63072440 - 62604113 62605722 - 100129782;493822 ABBA01018313;AL389895;AMYH02029326;NG_022842 ATP5AP4 APPROVED pseudo HGNC:23563 INFERRED 1354259 ATP5A1P5 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 5 9 9 p12 43399996 43401450 + 42410727 42412157 - 8168843;9284928 442416 ABBA01008832;AL162415;AMYH02020171;BX088651;BX248112;BX649597;NG_016580 ATP5A1P1;ATP5A1P6;ATP5AL1;ATP5AP1 APPROVED pseudo HGNC:825 INFERRED 2816813 ATP5A1P6 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 6 9 p11.2 44558961 44560251 + 643860 AL162415;BX088651;NG_021106 pseudo HGNC:37664 INFERRED 3277921 ATP5A1P7 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 7 9 9 p11.2 46998210 46999499 + 62686909 62688198 + 442415 AMYH02020694;BX664724;NG_028724 pseudo HGNC:37665 INFERRED 3498034 ATP5A1P8 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 8 9 9 p12 41799224 41800556 - 39654206 39655538 - 392322 ABBA01183881;BX296545;NG_027840 ATP5A1P9 pseudo HGNC:37666 INFERRED 1346333 ATP5A2 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle 1830491 499 HGNC:824 1344847 ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 56683671 56691564 - 57031959 57039852 - 56638175 56646068 - 1580863;6480464;6907045 10077593;11410595;11790298;12110673;12206899;12477932;12511957;12601813;14499622;14749816;15242332;15324660;15489334;15635413;15952740;16009940;1602151;16169070;16196087;16210410;16230521;16236267;16751257;16890199;16927672;16996794;17510399;17620599;17643490;18029348;18063578;18157088;18284036;18976975;19056867;19343720;19567816;19596686;19738201;19805454;19847302;19878569;20012595;20028336;20067530;20171186;20186120;20462248;20473970;20547883;20618440;20663914;20705594;21080425;21081666;21110914;21139048;21145461;21182205;21193741;21319273;21382349;21481781;21890473;21900206;21906983;21963094;21987572;22022619;22079093;22190034;22268729;22304920;22433606;22505724;22623428;22751105;22753871;22863883;22939629;23000965;23077236;23125841;23181366;23182705;23246001;23254330;23364796;23395605;23463654;23473034;23523934;23741361;23798571;23874603;24337577;24391795;24457600;24583174;24583282;24816145;2687158;2870059;2896550;2900241;4517936;7798271;8006588;8065448;9461222;9834036 506 F8W079;F8W0P7;H0YH81;H0YI37;P06576;V9HW31 ABBA01008432;AC090681;AK291085;AMYH02026571;BC016512;BI561028;CH471054;DQ403107;FJ224288;HC091114;M19483;M27132;NM_001686;X05606 AAA51808;AAA51809;AAH16512;ABD77240;ABM82511;ABM85705;ACI45980;BAF83774;CAA29095;CBI68016;EAW96952;NP_001677;P06576 Hs.406510 1661902;1736226;2122595;5021151;5094896 ATP5B;D12S1168E;M27132;RH18073;RH78335 ATPMB;ATPSB;HEL-S-271;MGC5231 ATP synthase subunit beta, mitochondrial;OTTHUMP00000243448;OTTHUMP00000243449;OTTHUMP00000243452;epididymis secretory protein Li 271;mitochondrial ATP synthase beta subunit;mitochondrial ATP synthetase, beta subunit APPROVED protein-coding ENSG00000110955 HGNC:830 00044 102910 REVIEWED 1342586 ATP5BL2 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 2 508 HGNC:832 1346159 ATP5BP1 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1 2 2 2 q11.2 93026500 93028283 + 98822584 98824367 + 98206121 98207904 + 2687158;7798271;9847074 507 ABBA01073969;AC018691;AMYH02004383;NG_021261 ATP5BL1;ATPMBL1;ATPSBL1 APPROVED pseudo HGNC:831 INFERRED 732616 ATP5C1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008] 10 10 10 p15.1 7755913 7775585 + 7830093 7849764 + 7788130 7807801 + 631859;1300048;1580863;6480464;6907045;8554872 8168843 11533724;11744705;12110673;12477932;12887009;14749816;14749837;15164054;15489334;16169070;16196087;16385451;17207965;17314511;17686786;19064571;19167051;19531499;19738201;19834535;19946888;20186120;20877624;21139048;21145461;21832049;21890473;21906983;21963094;21988832;22268729;22939629;23125841;23395605;23443559;23798571;24244333;24255178;24337577;24457600;25027693;4517936;8065448;8227057;9461222;9657145;9834036 509 B4DL14;P36542;Q8TAS0 ABBA01034735;AK292896;AK294061;AK296803;AL158044;AL353754;AMYH02022085;BC000470;BC000931;BC010380;BC013394;BC013865;BC016812;BC020824;BC026049;BQ893894;CH471072;CR457403;D16561;D16562;D16563;NM_001001973;NM_005174 AAH00470;AAH00931;AAH13394;AAH16812;AAH20824;AAH26049;ADQ32623;BAA03994;BAA03995;BAA03996;BAA03997;BAF85585;BAG57407;BAG59376;CAG33684;EAW86372;EAW86373;NP_001001973;NP_005165;P36542 Hs.271135 5017182;5120942 RH1622;RH65246 ATP5C;ATP5CL1 ATP synthase gamma chain, mitochondrial;ATP synthase subunit gamma, mitochondrial;F-ATPase gamma subunit;OTTHUMP00000019068;OTTHUMP00000019069;mitochondrial ATP synthase, gamma subunit 1 APPROVED protein-coding ENSG00000165629 HGNC:833 00156 108729 REVIEWED 1345569 ATP5C1P1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1 14 14 14 q22.2 34507371 34508463 - 54457649 54458741 - 53990931 53992023 - 631859 8168843 23259602 645560 ABBA01018189;AL138479;AMYH02029213;NG_004656 ATP5C2;ATP5CL2 APPROVED pseudo HGNC:834 INFERRED 1353040 ATP5D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1175982 1179057 + 1241749 1244824 + 1241750 1244825 + 1580863;6480464;6907045 11533724;12110673;12477932;12539966;1286669;12887009;14702039;14749816;14749837;15057824;15231747;1531933;15489334;21139048;21319273;22190034;22623531;22939629;23874603;24816145;4517936;9657145;9834036 513 P30049 ABBA01002634;AC004221;AK094357;AMYH02035145;BC002389;BC004426;BC018079;BC018817;BC050458;BC058927;CH471139;CR542218;NM_001001975;NM_001687;S87916;S87918;X63422;X63423 AAA08055;AAC04304;AAH02389;AAH04426;AAH18079;ABB76284;CAA45016;CAA45017;CAG47014;EAW69531;EAW69532;EAW69533;EAW69534;NP_001001975;NP_001678;P30049 Hs.418668 1681596;5015619;5021872 D11S3114;RH80863;sY3084 ATP synthase subunit delta, mitochondrial;F-ATPase delta subunit;mitochondrial ATP synthase complex delta-subunit precusor;mitochondrial ATP synthase, delta subunit APPROVED protein-coding ENSG00000099624 HGNC:837 04397 603150 REVIEWED 1346801 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011] 20 20 20 q13.32 54344154 54347843 - 57603733 57607422 - 59028678 59032367 - 1302227;1580863;6480464;6907045;8699517;7240710;8554872 10727396 10931946;11173840;11780052;12110673;12477932;14749816;15489334;16236267;16344560;16712791;19016746;20026007;20877624;2137333;21890473;21988832;24067918;24816145;4517936;9461222;9834036 514 P56381 ABBA01005967;AF052955;AF077045;AK026556;AK315493;AL109840;AMYH02037379;BC001690;BC003671;BC070167;BC105811;BT007293;CB106920;CH471077;DA202623;NG_031871;NM_006886 AAD27778;AAF72736;AAH01690;AAH03671;AAI05812;AAP35957;BAG37877;EAW75444;EAW75445;EAW75446;NP_008817;P56381 Hs.177530 1644487;1657577;1714297;2181462;5023463 RH119929;RH36304;RH78170;STS-N30323;STS-R77463 ATPE;MC5DN3;MGC104243 ATP synthase subunit epsilon, mitochondrial;ATPase subunit epsilon;F(0)F(1)-ATPase;H(+)-transporting two-sector ATPase;OTTHUMP00000031404;OTTHUMP00000174442;mitochondrial ATP synthase epsilon chain;mitochondrial ATPase APPROVED protein-coding HGNC:838 05856 606153;614053 REVIEWED 1344555 ATP5EP1 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1 4 4 4 q25 103752668 103753086 + 106453545 106453963 + 105532388 105532806 + 1302227 10727396 23744 ABBA01063735;AC004066;AF277095;AMYH02009852;NG_002691 pseudo HGNC:839 INFERRED 2291819 ATP5EP2 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 ENCODES a protein that exhibits proton-transporting ATP synthase activity, rotational mechanism (inferred); proton-transporting ATPase activity, rotational mechanism (inferred); INVOLVED IN ATP synthesis coupled proton transport (inferred); FOUND IN mitochondrion; INTERACTS WITH 17beta-estradiol; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 13 13 13 q12 9594402 9594769 + 28519343 28519710 + 27945206 27945573 + 6480464 432369 Q5VTU8 ABBA01035737;AL591024;AMYH02027761;EC567419;EC579276;NR_002162 Q5VTU8 Hs.574118 pseudo ENSG00000180389 HGNC:34026 VALIDATED 736319 ATP5F1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 110238666 110251462 + 111991467 112004540 + 111448845 111461918 + 1300048;1580863;6480464;6907045 11827452;12110673;12477932;14749816;15489334;16196087;16710414;17353931;1831354;18781797;19016746;19064571;19650768;19834535;19946888;20038517;20186120;20877624;21139048;21319273;21906983;21963094;21988832;22190034;22779921;22939629;23874603;24337577;24457600;24816145;2868890;2883974;4517936;7706317;7821789;8125298;9461222;9834036 515 P24539;Q08ET0;Q5QNZ2 ABBA01068397;AI754631;AK223018;AK291077;AK308266;AK313541;AL390195;AMYH02001727;AW385236;AW778751;AY871272;BC005366;BC005960;BC016350;BF237506;CH471122;D28383;NM_001688;X60221;XM_005270929 AAH05366;AAH05960;AAH16350;AAX11428;BAA05749;BAD96738;BAF83766;BAG36318;CAA42782;EAW56495;EAW56496;NP_001679;P24539;XP_005270986 Hs.514870 1337813;1677606;1692086;2186101;5016709;5022651;5037552 AL033683;D11S2921;D18S1034;D1S2789;D8S2279;RH65130;RH70850 MGC24431;PIG47 ATP synthase B chain, mitochondrial;ATP synthase F(0) complex subunit B1, mitochondrial;ATP synthase proton-transporting mitochondrial F(0) complex subunit B1;ATP synthase subunit b;ATP synthase subunit b, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1;ATPase subunit b;H+-ATP synthase subunit b;OTTHUMP00000013469;OTTHUMP00000013470;cell proliferation-inducing protein 47 APPROVED protein-coding HGNC:840 04467 603270 REVIEWED 5129377 ATP5F1P1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 1 13 13 13 33221775 33222795 + 52172576 52173596 + 51598440 51599460 + 100422523 ABBA01051050;AL139183;NG_024928 pseudo HGNC:39742 INFERRED 5129401 ATP5F1P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 2 7 7 7 q21.3 89066180 89066987 + 94367966 94368773 + 94738654 94739461 + 645973 ABBA01045781;AC104700;AMYH02016286;CH236949;NG_009430 pseudo HGNC:39743 INFERRED 5129405 ATP5F1P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 3 7 7 7 q36.1 147010922 147011685 + 152446057 152446820 + 152748972 152749735 + 644333 ABBA01035114;AC092180;AMYH02017103;NG_022578 pseudo HGNC:39744 INFERRED 5129378 ATP5F1P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 4 2 2 2 147630009 147630766 + 154015452 154016209 + 153158938 153159695 + 100422514 ABBA01004800;AC011901;AMYH02005001;NG_023742 pseudo HGNC:39745 INFERRED 5129394 ATP5F1P5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 5 11 11 11 q24.1 119990429 119991187 + 122831035 122831793 + 122960327 122961085 + 100128516 ABBA01031278;AMYH02025709;AP003040;NG_021837 pseudo HGNC:39746 INFERRED 5129403 ATP5F1P6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 6 6 6 6 q24.1 140675572 140676335 - 139935578 139936341 - 139614441 139615204 - 645440 ABBA01025787;AL390205;AMYH02014603;NG_022330 pseudo HGNC:39747 INFERRED 5129412 ATP5F1P7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 7 16 16 16 q23.1 60037302 60038058 - 75742957 75743713 - 75709059 75709815 - 124496 ABBA01017056;AC025287;AMYH02032406;NG_022506 pseudo HGNC:39748 INFERRED 1348420 ATP5G1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 43424432 43427516 + 46970148 46973233 + 48892786 48895871 + 1580863;6480464;6907045 11076863;11230166;11256614;12477932;14702039;14749816;15489334;15489336;15906478;16381901;19889836;20877624;21139048;21378990;21963094;2883974;4517936;7698763;8328972;8485160;8889548;9461222;9834036 516 D6R9H7;E7EPU7;E7EQ97;I3L0Y5;P05496;Q6FIH7 ABBA01041181;AC091133;AK095669;AK311848;AL080089;AMYH02033551;BC004963;BF573360;BG611396;BT007230;BU596803;CF129854;CH471109;CR533449;D13118;M16453;NM_001002027;NM_005175;X69907 AAA51806;AAH04963;AAP35894;BAA02420;BAG34790;CAA49532;CAB45704;CAG38480;CAL38315;EAW94705;EAW94706;NP_001002027;NP_005166;P05496 Hs.80986 1660693;2137703 D17S2035;WI-18744 ATP5A;ATP5G ATP synthase F(0) complex subunit C1, mitochondrial;ATP synthase lipid-binding protein;ATP synthase lipid-binding protein, mitochondrial;ATP synthase proteolipid P1;ATP synthase proton-transporting mitochondrial F(0) complex subunit C1;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9);ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1;ATPase protein 9;ATPase subunit 9;ATPase subunit C;OTTHUMP00000218389;OTTHUMP00000218391;OTTHUMP00000218448;OTTHUMP00000218449;OTTHUMP00000218450;mitochondrial ATP synthase, subunit 9, isoform 1;mitochondrial ATP synthase, subunit C, isoform 1 APPROVED protein-coding ENSG00000159199 HGNC:841 04428 603192 REVIEWED 1347596 ATP5G1P1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 1 14 14 14 q32.33 86055966 86056512 - 106003083 106003629 - 105536746 105537292 - 319136 ABBA01008884;AC243900;AL928742;NG_002514 ATP5GP3 APPROVED pseudo HGNC:19815 INFERRED 1351129 ATP5G1P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 2 14 14 14 q12 11654826 11655393 - 31789327 31789894 - 31320121 31320688 - 319137 ABBA01061419;AL139353;AMYH02028953;NG_002515 ATP5GP4 APPROVED pseudo HGNC:19817 INFERRED 4892192 ATP5G1P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 3 3 3 3 q22.3 137034539 137035241 - 138608097 138608799 - 138889255 138889957 - 646619 ABBA01059073;AC092947;AMYH02007783;NG_022220 1335298;1337904;1731677 D3S1535;D3S1665;D8S1019 pseudo HGNC:39506 INFERRED 4892173 ATP5G1P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 4 3 3 3 q26.31 170945494 170946038 - 172546423 172547005 - 172828633 172829215 - 100287755 ABBA01058644;AC108667;AMYH02008153;NG_028935 pseudo HGNC:39507 INFERRED 4892148 ATP5G1P5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 5 13 13 13 q33.3 88160014 88160536 + 107315740 107316298 + 106663392 106663950 + 390424 ABBA01027046;AL442127;AMYH02028666;CH471085;NG_023226 EAX09090 pseudo HGNC:39508 INFERRED 4892171 ATP5G1P6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 6 18 18 q21.3 61164175 61164731 + 63496942 63497498 + 100505704 ABBA01056222;AC036176;AMYH02034885;NG_028974 pseudo HGNC:39509 INFERRED 4892174 ATP5G1P7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 7 10 10 10 q22.1 64469136 64473750 - 71192620 71193169 - 69432864 69433413 - 100130962 ABBA01019607;AC016821;AMYH02023271;NG_028965 pseudo HGNC:39510 INFERRED 4892172 ATP5G1P8 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 8 10 10 q22.3 78596104 78596715 + 76836346 76836957 + 100288222 ABBA01020241;AC011439;AC013738;AMYH02023376;NG_028756 2161656;2172002;2183182 A003B45;NIB1917;RH11276 pseudo HGNC:39511 INFERRED 736098 ATP5G2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene has multiple pseudogenes. [provided by RefSeq, Jun 2010] 12 12 12 q13.13 53709025 53720613 - 54058944 54070512 - 53665160 53676728 - 1300048;1580863;6480464;6907045 11329013;12477932;14749816;15231747;15489334;16303743;19064571;20189936;20877624;21963094;21988832;22645275;24250222;2883974;7698763;7706317;7821789;8328972;8485160;9461222;9834036 517 F8VXQ8;F8W041;Q06055 ABBA01008355;AC073594;AK075351;AK130971;AK311357;AMYH02026527;AMYH02026528;AV737582;BC013839;BC020826;BF337574;BG217012;BQ682406;BX348847;CH471054;D13119;D28402;H83751;M16439;NM_001002031;NM_005176;X69908 AAA51804;AAH20826;ABM82293;ABM85473;BAA02421;BAA05768;BAG52118;CAA49533;EAW96725;EAW96726;NP_001002031;NP_005167;Q06055 Hs.524464 1747705;2127399;2147163;5015619;5015861;5015879;5020946;5021228;5022322;5037552;5118576;7185938 A006X11;D10S16;D11S2560;D11S3114;D11S3430;D12S2096;D8S2279;G64259;GDB:312794;GDB:314949;L17971 ATP5A ATP synthase F(0) complex subunit C2, mitochondrial;ATP synthase c subunit;ATP synthase lipid-binding protein;ATP synthase lipid-binding protein, mitochondrial;ATP synthase proteolipid P2;ATP synthase proton-transporting mitochondrial F(0) complex subunit C2;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9);ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2;ATPase protein 9;ATPase subunit C;OTTHUMP00000164641;OTTHUMP00000164642;OTTHUMP00000242922;mitochondrial ATP synthase, subunit C (subunit 9), isoform 2 APPROVED protein-coding ENSG00000135390 HGNC:842 04429 603193 REVIEWED 1354351 ATP5G2P1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 1 1 1 1 q32.2 182671846 182672479 - 209440995 209441628 - 209267650 209268283 - 8328972 520 ABBA01048220;AC092810;AMYH02002595;NG_005472;X69909 ATP5GP1 APPROVED pseudo HGNC:844 INFERRED 1344994 ATP5G2P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 2 14 14 14 q21.3 29700544 29701166 + 49840630 49841252 + 49373912 49374534 + 22610502 319119 ABBA01018106;AL512361;AMYH02029144;NG_002500 ATP5GP2 APPROVED pseudo HGNC:19672 INFERRED 5133592 ATP5G2P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 3 2 2 q33.1 198127781 198128402 + 197263057 197263678 + 100507097 ABBA01062468;AC074092;AMYH02005518;NG_029212 pseudo HGNC:42187 INFERRED 5133627 ATP5G2P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 4 X X X p11.4 46100079 46100707 - 41957856 41958484 - 42098603 42099231 - 654480 ABBA01046588;ABBA01046589;AMYH02039221;NG_005473;Z92545 1694112;1702078;2121309;2136375;2157201;5108958 AL035126;DXS1379;DXS1700;DXS7055;DXS7512;L77298 pseudo HGNC:42188 INFERRED 734314 ATP5G3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010] 2 2 2 q31.1 169654533 169660034 - 176040986 176046490 - 175176258 175181762 - 1300048;1580863;6480464;6907045 12477932;14667819;14749816;15489334;15815621;20877624;21103663;22505724;2883974;7698763;8328972;9461222;9834036 518 P48201;Q6LEU9 ABBA01062204;AC096649;AK125917;AK311999;AMYH02005286;AW025164;BC106881;BF210704;BI756002;BI765737;BQ054164;CA424417;CH471058;CR407601;NM_001002258;NM_001190329;NM_001689;U09813 AAA78807;AAI06882;AAX88970;ACE87781;ACT64448;BAG34937;CAG28411;EAX11105;EAX11106;EAX11107;EAX11108;NP_001002258;NP_001177258;NP_001680;P48201 Hs.429 1658328;1689761;1734992;1856922;2120992;5022651 D11S2921;D2S1729E;RH16634;RH46434;RH98914;SHGC-56806 MGC125738;P3 ATP synthase F(0) complex subunit C3, mitochondrial;ATP synthase lipid-binding protein;ATP synthase lipid-binding protein, mitochondrial;ATP synthase proteolipid P3;ATP synthase proton-transporting mitochondrial F(0) complex subunit C3;ATP synthase subunit 9;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9);ATP synthase, mitochondrial, C subunit-3;ATPase protein 9;ATPase subunit C;OTTHUMP00000163263;OTTHUMP00000205361;OTTHUMP00000205362;atp synthase, h+ transporting, mitochondrial f0 complex, subunit c (subunit 9) isoform 3 APPROVED protein-coding HGNC:843 04112 602736 REVIEWED 1351705 ATP5H ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010] 17 17 17 q25 69628209 69636011 - 73034955 73043074 - 75038860 75046979 - 1580863;6480464;6907045 11042152;12110673;12471886;12477932;12628343;12745923;14702039;14749816;15489334;16169070;16751776;19016746;19110265;20186120;20877624;21139048;21832049;21890473;21906983;22190034;22939629;23246001;23658844;24583282;4517936;7509337;9461222;9834036 10476 A0PJH2;F5H608;O75947 AA608885;ABBA01028819;AC087651;AF061735;AF070650;AF086159;AF087135;AK095671;AK312230;AMYH02033982;BC029392;BC032245;BC038092;CH471099;DQ583597;NM_001003785;NM_006356 AAC36338;AAD20956;AAG43146;AAH29392;AAH32245;AAH38092;BAG35163;EAW89228;EAW89229;NP_001003785;NP_006347;O75947 Hs.514465 1678863;5015619;5020946;5022604;5037552 D11S3114;D12S1156E;D8S2279;L17971;RH17542 ATP5JD;ATPQ ATP synthase D chain, mitochondrial;ATP synthase subunit d, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d;ATP synthase, H+ transporting, mitochondrial F1F0, subunit d;ATPase subunit d;My032 protein APPROVED protein-coding ENSG00000167863 HGNC:845 16519 REVIEWED 2303321 ATP5HP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 1 15 15 15 q15.2 20330865 20331459 - 43560029 43560623 - 43267831 43268425 - 390581 ABBA01038351;AC009852;AMYH02030301;NG_004675;NG_016124 1678863 RH17542 HsT18164 APPROVED pseudo HGNC:31021 INFERRED 7970285 ATP5HP2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 2 9 9 9 p24.2 2818487 2819093 - 2900240 2900846 - 2900240 2900846 - 138234 ABBA01065436;AL589675;AMYH02019056;NG_001540 pseudo HGNC:49624 INFERRED 7925084 ATP5HP3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 3 9 9 9 p23 14002436 14003038 + 14068877 14069479 + 14068878 14069480 + 138864 ABBA01065306;AL441963;AMYH02019187;CH471071;NG_023175 EAW58700 pseudo HGNC:49625 INFERRED 7840788 ATP5HP4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 4 12 12 12 q14 68699964 68700559 - 69036223 69036818 - 68642443 68643038 - 246723 ABBA01026555;AC015550;AMYH02026697;NG_001585 pseudo HGNC:49626 INFERRED 1350783 ATP5I ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] 4 4 4 p16.3 606912 634112 - 666225 668127 - 672436 674338 - 1580863;6480464;6907045 10409428;11939412;12110673;12471886;12477932;12628343;12745923;14749816;15489334;16344560;16682002;18029348;18060860;19167051;19460752;19738201;20195357;20877624;21139048;22623428;22939629;24250222;24457600;24583282;24816145;25015289;4517936;8702853;9461222;9834036 521 P56385;Q9Y6W4 AB028624;ABBA01019337;AC107464;AK000656;AMYH02008558;BC003679;BC017215;BC105610;BF215596;BG940181;BG943252;BT006922;CH471131;D50371;DA119852;NM_007100;NR_033743 AAH03679;AAI05611;AAP35568;AAP36676;BAA23322;BAA78778;EAW82660;NP_009031;P56385 Hs.85539 1341961;1646206;1849572;5017192;5128289 D4S2936;D4S913;G34358;RH48833;SHGC-152391 ATP5K;MGC12532 ATP synthase e chain, mitochondrial;ATP synthase subunit e, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E;ATPase subunit e;F1F0-ATP synthase, murine e subunit;OTTHUMP00000109533 APPROVED protein-coding ENSG00000169020 HGNC:846 03308 601519 REVIEWED 735304 ATP5J ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex, required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. A pseudogene exists on chromosome Yp11.[provided by RefSeq, Jun 2010] 21 21 21 q21.1 12280206 12291380 - 27096791 27107965 - 25724480 25735654 - 1300048;1580863;6480464;6484113;6907045 10830953;11230166;12110673;12471886;12477932;12628343;12745923;1286669;14633154;14749816;15489334;15709156;15785006;16230521;16532470;17456993;18029348;18243211;1825642;1830479;19064571;19106112;19759913;20811295;20877624;20953793;21890473;21900206;22038518;22190034;22939629;23000965;24124598;4517936;7698763;9461222;9732751;9834036 522 A8MUH2;P18859;Q6IB54;Q6NZ59 ABBA01057211;AI085837;AK311899;AL110183;AMYH02037648;AMYH02037649;AP000226;AX888146;AY544129;BC001178;BC066310;BG938438;BI093033;BQ268216;BT007244;BU174560;CH471079;CR456950;M37104;M73031;NM_001003696;NM_001003697;NM_001003701;NM_001003703;NM_001685;XM_005260992 AAA51807;AAA58630;AAH01178;AAH66310;AAP35908;AAT11160;BAG34840;CAB53667;CAE94071;CAG33231;EAX09970;EAX09971;EAX09972;EAX09973;EAX09974;EAX09975;NP_001003696;NP_001003697;NP_001003701;NP_001003703;NP_001676;P18859;XP_005261049 Hs.246310 1678055 RH38901 ATP5;ATP5A;ATPM;CF6;F6 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6;ATP synthase-coupling factor 6, mitochondrial;ATPase subunit F6;OTTHUMP00000096106;OTTHUMP00000096107;OTTHUMP00000096108;OTTHUMP00000096110;OTTHUMP00000096111;OTTHUMP00000096112;coupling factor 6;mitochondrial ATP synthase, coupling factor 6;mitochondrial ATP synthase, subunit F6;mitochondrial ATPase coupling factor 6;proliferation-inducing protein 36 APPROVED protein-coding ENSG00000154723 HGNC:847 04399 603152 REVIEWED 1345847 ATP5J2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010] 7 7 7 q22.1 93789985 93798009 - 99055784 99063824 - 99458161 99466201 - 1298632;1580863;6480464;6907045;8554872 9653160 11042152;11959398;12110673;12471886;12477932;12628343;12690205;12745923;14702039;14749816;15146197;15489334;16169070;16344560;16712791;17314511;17342744;18505769;18596870;18781797;19064571;20877624;21139048;21150319;22939629;24244333;24654937;4517936;8125298;9461222;9834036 9551 C9JU26;E5RKA0;P56134 ABBA01013261;ABBA01013262;AC073063;AF047436;AF088918;AK094388;AK123419;AK223348;AMYH02016360;AY046911;BC003678;BE139254;BU587946;CB110074;CB155273;CD173604;CD176299;CH236956;CH471091;CN274665;CR456891;CR542155;CS072281;DA064847;DB114195;EL952520;NM_001003713;NM_001003714;NM_001039178;NM_004889 AAC34895;AAC39887;AAH03678;AAL06647;BAD97068;CAG33172;CAG46952;CAI93419;EAL23877;EAW76661;NP_001003713;NP_001003714;NP_001034267;NP_004880;P56134 Hs.521056;Hs.656515 1670584;1768762;5124605 GDB:4584994;RH91344;WI-18640 ATP5JL ATP synthase f chain, mitochondrial;ATP synthase subunit f, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2;F1F0-type ATPase subunit f;F1Fo-ATP synthase complex Fo membrane domain f subunit;F1Fo-ATPase synthase f subunit;OTTHUMP00000206242;OTTHUMP00000206270;OTTHUMP00000206317;OTTHUMP00000214468;OTTHUMP00000214469;OTTHUMP00000225439 APPROVED protein-coding ENSG00000241468 HGNC:848 16520 REVIEWED 5013862 ATP5J2-PTCD1 ATP5J2-PTCD1 readthrough This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 7 7 q 99014362 99063824 - 99416739 99466201 - 6480464;8554872 12853948;20967262;21890473;24457600;9847074 100526740 B4DJ38;C9JJT5;G3V325 ABBA01013261;ABBA01013262;ABBA01013263;AC004922;AC073063;AC090113;AK295912;AMYH02016360;NM_001198879 BAG58700;NP_001185808 Hs.632313 1693582;5015619;5015961;5022588;5022651;5037552 D11S2921;D11S3114;D15S1477;D5S1597E;D8S2279;SHGC-58489 FLJ56092 ATP5J2-PTCD1 fusion protein;ATP5J2-PTCD1 read-through transcript;OTTHUMP00000218971 APPROVED protein-coding ENSG00000248919 HGNC:38844 VALIDATED 1354458 ATP5J2LP ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene DISCONTINUED: This record has been withdrawn by the NCBI staff because it was annotated on the wrong strand. This pseudogene locus is now represented by GeneID:101241877. 21 21 q22.13 22959439 22959874 + 37761052 37761487 + 10830953 54100 AP000694;AP001725 APPROVED pseudo WITHDRAWN 7240984 ATP5J2LP ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene 21 21 q22.13 37761176 37761410 - 36388878 36389112 - 101241877 ABBA01057395;AMYH02037781;AP000694;NG_033132 pseudo ENSG00000224421 HGNC:849 INFERRED 1346132 ATP5J2P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 2 6 6 6 q21 109974585 109975005 + 109228680 109229099 + 108907477 108907896 + 387107 ABBA01026140;AL445189;AMYH02014277;NG_004672 1670584;1768762 GDB:4584994;WI-18640 bA249L21.4 APPROVED pseudo HGNC:21540 INFERRED 1343122 ATP5J2P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 3 9 9 q21.2 79655332 79655586 + 77040416 77040670 + 445573 ABBA01033919;AL353637;AMYH02021030;NG_032710 bA159H20.5 APPROVED pseudo HGNC:21286 INFERRED 1642108 ATP5J2P5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 5 12 12 12 p13.3 7995235 7995652 - 6379191 6379608 - 6270025 6270442 - 654484 ABBA01017634;AC006057;AMYH02025947;NG_005477 APPROVED pseudo HGNC:33611 INFERRED 1344612 ATP5L2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 ENCODES a protein that exhibits hydrogen ion transmembrane transporter activity (inferred); INVOLVED IN ATP synthesis coupled proton transport (inferred); FOUND IN mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; 17alpha-ethynylestradiol (ortholog) 22 22 22 q13.2 26946291 26947085 - 43035809 43036607 - 42639803 42640601 - 1580863;6480464 10361692;12477932;15489334 267020 Q7Z4Y8 ABBA01017932;AF092923;AMYH02038464;BC093719;BC093721;NG_012194;NM_001165877 AAP97217;NP_001159349;Q7Z4Y8 Hs.664737 2220506 UniSTS:483707 ATP5K2;dJ222E13.5 ATP synthase subunit g 2, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2-like;ATP synthase, H+ transporting, mitochondrial F1F0, subunit g;ATPase subunit g 2;OTTHUMP00000220201;atp synthase, h+ transporting, mitochondrial f0 complex, subunit g, isoform 2 APPROVED protein-coding ENSG00000249222 HGNC:13213 VALIDATED 1642107 ATP5J2P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 4 17 17 17 q 56957472 56957880 + 62487635 62488043 + 64491518 64491926 + 654485 ABBA01035297;AC009994;AC138744;AC234063;AMYH02033792;NG_005476;NG_013029 APPROVED pseudo HGNC:32451 INFERRED 1642106 ATP5J2P6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 6 15 15 15 q22 43596828 43597253 - 66707138 66707563 - 66414800 66415225 - 654486 ABBA01038822;AC011276;AMYH02030646;NG_005475;NG_008305 APPROVED pseudo HGNC:33612 VALIDATED 1344028 ATP5LP3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 3 4 4 p15.2 24659285 24660044 - 24657662 24658421 - 53409 ABBA01032684;AC114777;AF261723;AMYH02008901;NG_005043 1697932 RH102495 ATP5KP3;ATPE5KP3 APPROVED pseudo HGNC:13216 INFERRED 1350659 ATP5LP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 1 11 11 11 q13.1 60927942 60928394 - 63602064 63602516 - 63834592 63835044 - 53411 ABBA01003271;AF261721;AMYH02024920;AP006289;NG_004834;NG_029771 ATP5KP1;ATPE5KP1 APPROVED pseudo HGNC:13214 INFERRED 2902896 ATP5JP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 pseudogene 1 Y Y Y p11.2 2446539 2446873 - 6769175 6769509 + 6901134 6901468 + 12815422;9847074 359997 ABBA01034865;AC011297;NG_002918 2125637 DYS265 pseudo HGNC:23933 INFERRED 1353372 ATP5LP2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 2 6 6 6 q22.31 123925257 123925667 - 123180748 123181158 - 122859603 122860013 - 53410 ABBA01025980;AF261722;AL732431;AMYH02014413;NG_005040 ATP5KP2 APPROVED pseudo HGNC:13215 INFERRED 1352647 ATP5L ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] 11 11 11 q23.3 115429967 115438425 + 118272104 118280562 + 118401389 118409847 + 1580863;6480464;6907045 11042152;11076863;11230166;11256614;12110673;12471886;12477932;12628343;12745923;14749816;15489334;15489336;16196087;16381901;17137291;17353931;20186120;20819778;20876399;20877624;21139048;21319273;21890473;21906983;22939629;23464991;24797263;24816145;4517936;9461222;9834036 10632 E9PN17;O75964 AA258888;ABBA01039711;AF070655;AF087846;AF092124;AI337729;AK289568;AL050277;AMYH02025638;AP001267;BC015128;BC070165;BU953217;CH471065;CR533494;CR542211;NM_006476;NR_033759 AAC61597;AAD20961;AAH15128;AAH70165;AAP97159;BAF82257;CAB43378;CAG38525;CAG47007;CAL37942;CAL38390;EAW67376;NP_006467;O75964 Hs.486360 1652607;1671185;2141064 A006R09;D20S1118;RH66640 ATP5JG ATP synthase g chain, mitochondrial;ATP synthase subunit g, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G;ATP synthase, H+ transporting, mitochondrial F1F0, subunit g;ATPase subunit G;F1F0-type ATP synthase subunit g;F1Fo-ATP synthase complex Fo membrane domain g subunit;OTTHUMP00000232646 APPROVED protein-coding ENSG00000167283 HGNC:14247 09815 REVIEWED 3254930 ATP5LP5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 5 3 3 3 q25.2 150936911 150963022 - 152518223 152544334 - 152800434 152826545 - 22610502 100287091 ABBA01058888;ABBA01058889;AC013251;AMYH02007918;NG_022986 pseudo HGNC:38167 INFERRED 3028767 ATP5LP7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 7 17 17 q21.2 37455320 37455629 + 40799856 40800165 + 100287964 AC067852;NG_023016 pseudo HGNC:38169 INFERRED 3051036 ATP5LP4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 4 4 4 4 q31.23 146945332 146945638 - 149624678 149624984 - 148703526 148703832 - 22493691 100130396 ABBA01070067;AC108935;AMYH02010285;NG_022979 pseudo HGNC:38165 INFERRED 3051010 ATP5LP8 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 8 11 11 11 28312312 28312614 - 28166450 28166752 - 28144903 28145205 - 100462862 ABBA01060959;AC023206;AMYH02024510;NG_021779 pseudo HGNC:38170 INFERRED 3051009 ATP5LP6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 6 17 17 17 70792526 70792796 - 74198607 74198877 - 76202526 76202796 - 100462865 ABBA01028754;AC015801;AMYH02034007;NG_022453 pseudo HGNC:38168 INFERRED 1348097 ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 20475343 20487744 - 35275757 35288158 - 33903453 33915854 - 1580863;6480464;6907045;8554872 10830953;12110673;12477932;12665801;14702039;15489334;15850986;16196087;17567994;17571346;17851741;19064571;19274082;19615732;19738201;20800603;20877624;20972266;21139048;21319273;21890473;21906983;22190034;22304920;22623428;22939629;23000965;23046812;23125841;23222517;23246001;23463506;23473034;23798571;24244333;24250222;24457600;24583282;24816145;4517936;7490082;8125298 539 H7C068;H7C086;H7C239;H7C2P9;P48047 ABBA01057362;AF088071;AK093795;AK124187;AK222608;AK222962;AK311796;AMYH02037749;AP000313;AV734214;AW518473;BC021233;BC022865;BT019836;CD174837;CH471079;CR456822;NM_001697;X83218 AAH21233;AAH22865;AAV38639;ADZ16081;BAD96328;BAD96682;BAG34739;CAA58219;CAG33103;EAX09802;EAX09803;EAX09804;NP_001688;P48047 Hs.409140 1646399;1677438;1801022;1801862;1813084;1814678;1820598;1820712;1821046;1824404;1824634;1826422;1832294;1834780;1835432;1844312;1845576;1858612;2032308;2032310;2032312;2032314;2032316;2032318;2032320;2032322;2032324;2032326;2032328;2032330;2032332;2032334;2032336;2032338;2032340;2032342;2032344;2032346;2032348;2032350;2032352;2032354;2032356;2032358;2032360;2032362;2032364;2032366;2032368;2032370;2032372;2032374;2032376;2032378;2032380;2032382;2032384;2032386;2032388;2032390;2032392;2032394;2032396;2032398;2032400;2032402;2032404;2032406;2032408;2032410;2032412;2032414;2032416;2032418;2032420;2032422;2032424;2032426;2032428;2032430;2032432;2032434;2032436;2032438;2101860;2101862;2101864;2101866;2101868;2101870;2101872;2101874;2101876;2101878;2101880;2101882;2168124;5096338 D21S1977;D21S1980;ECD01377;ECD01812;ECD07561;ECD08369;ECD11374;ECD11431;ECD11600;ECD13300;ECD13415;ECD14325;ECD17286;ECD18538;ECD18871;ECD23370;ECD24006;ECD24507;REN87161;REN87162;REN87163;REN87164;REN87165;REN87166;REN87167;REN87168;REN87169;REN87170;REN87171;REN87172;REN87173;REN87174;REN87175;REN87176;REN87177;REN87178;REN87179;REN87180;REN87181;REN87182;REN87183;REN87184;REN87185;REN87186;REN87187;REN87188;REN87189;REN87190;REN87191;REN87192;REN87193;REN87194;REN87195;REN87196;REN87197;REN87198;REN87199;REN87200;REN87201;REN87202;REN87203;REN87204;REN87205;REN87206;REN87207;REN87208;REN87209;REN87210;REN87211;REN87212;REN87213;REN87214;REN87215;REN87216;REN87217;REN87218;REN87219;REN87220;REN87221;REN87222;REN87223;REN87224;REN87225;REN87226;RH93444;STS-N98935;stSG607539;stSG607540;stSG607541;stSG607542;stSG607543;stSG607544;stSG607545;stSG607546;stSG607547;stSG607548;stSG607549;stSG607550 ATPO;OSCP ATP synthase subunit O, mitochondrial;OTTHUMP00000067745;human ATP synthase OSCP subunit;oligomycin sensitivity conferral protein;oligomycin sensitivity conferring protein APPROVED protein-coding ENSG00000241837 HGNC:850 02899 600828 REVIEWED 1343474 ATP5S ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 14 14 14 q21.3 30646177 30660090 + 50778256 50802359 + 50311539 50326715 + 1580863;6480464;8554872 11744738;12471886;12477932;12628343;12745923;14749816;16344560;16806233;20877624;24347629;6143319;8619474;9110174;9461222;9834036 27109 G3V446;Q8WXQ4;Q99766 ABBA01018131;ABBA01018132;AF052186;AF390029;AK290008;AL359397;AMYH02029168;AY052377;BC011549;BC087851;BG699167;BI755956;BU189283;CD517203;CH471078;DA033027;NM_001003803;NM_001003805;NM_015684;NR_033761;U79253;XM_005267537;XM_005267538;XM_005267539;XR_245682 AAB50202;AAH11549;AAL13058;AAL58839;BAF82697;EAW65718;EAW65719;EAW65720;EAW65721;EAW65722;EAW65723;NP_001003803;NP_001003805;NP_056499;Q99766;XP_005267594;XP_005267595;XP_005267596 Hs.438489 1676696;1677959;1736394;2110271;2159299;5093390 ATP5S_9524;D14S654E;G32690;RH40006;RH71262;RH99086 ATPW;FB;HSU79253 ATP synthase coupling factor B, mitochondrial;ATP synthase coupling factor B-like 1;ATP synthase subunit s, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B);ATP synthase-coupling factor B;OTTHUMP00000244611;OTTHUMP00000244612;OTTHUMP00000244614;mitochondrial ATP synthase regulatory component factor B APPROVED protein-coding ENSG00000125375 HGNC:18799 12503 REVIEWED 1605674 ATP5SL ATP5S-like FOUND IN mitochondrion (inferred); INTERACTS WITH paracetamol; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.2 38737074 38745696 - 41937223 41945843 - 41431318 41439938 - 6480464 12477932;14702039;16344560;20877624;20881960;21682944;23065704 55101 B4DFT4;K7EIV4;K7ESN5;M0QX81;M0QZC4;M0QZP7;M0R078;Q9NW81 ABBA01040809;AC011526;AK001103;AK055565;AK123631;AK293132;AK294249;AK297698;AK298197;AK301940;AK316313;AMYH02036134;BC013323;BQ072604;CH471126;DA075924;DA703197;NM_001167867;NM_001167868;NM_001167869;NM_001167870;NM_001167871;NM_018035;NR_030765;XM_006723258 AAH13323;ADZ15772;BAA91503;BAG56681;BAG57545;BAG60056;BAG60467;BAG63360;BAH14684;EAW57042;EAW57043;EAW57044;EAW57045;NP_001161339;NP_001161340;NP_001161341;NP_001161342;NP_001161343;NP_060505;Q9NW81;XP_006723321 Hs.351099 1854126;2136320;2142506;2142508;2156652;5022651 A005U20;D11S2921;G20507;IB1022;RH35849;SHGC-24398 FLJ10241;FLJ31003;FLJ60315 ATP synthase subunit s-like protein protein-coding ENSG00000105341 HGNC:25496 07655 VALIDATED 1346001 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008] X X X p11.4 44580390 44606072 + 40440141 40465889 + 40580964 40606637 + 1580863;5132617;6480464;7240710;8554872;8699517 18376005 10931946;11590366;11782983;12045255;12477932;15489334;15746149;16303743;16374430;16401765;16807542;17082479;17494887;18698213;19056867;19131936;19513539;19580809;19615732;19641301;19733264;20093472;20385187;20702505;20927107;21103663;21139048;21228785;21270819;21316680;21346687;21420935;21890473;21906983;21963094;21997900;22025376;22407459;22684035;22721990;22810585;22884881;22930161;23000965;23045457;23111329;23277024;23555874;23595882;23673200;24218434;24223829;24400720;24472541;9556572 10159 B7Z1I9;B7Z413;B7Z9I3;H0Y750;H7C240;H7C3E1;O75787 ABBA01046796;ABBA01046797;AC092473;AF109363;AF248966;AF291814;AF354120;AK075382;AK293510;AK296614;AK297007;AK297760;AK314633;AK315948;AL049929;AMYH02039192;AY038990;AY429341;BC010395;BC084541;CH471141;NG_008874;NM_005765;Y17975 AAG44564;AAH10395;AAH84541;AAK83467;AAL11062;AAM47531;AAQ13511;AAR06910;BAC11582;BAH11525;BAH12399;BAH12473;BAH12660;BAH14319;CAA76984;CAB43210;EAW59424;NP_005756;O75787 Hs.495960 1334674;1336817;1336934;1338420;1674470;2140079;2178297;7187613 DXS1069;DXS8085;DXS8090;DXS8102;RH169;SHGC-31934;WI-21507 APT6M8-9;ATP6IP2;ATP6M8-9;ELDF10;HT028;M8-9;MGC99577;MRXE;MRXSH;MSTP009;N14F;PRR;RENR;XMRE;XPDS ATPase H(+)-transporting lysosomal-interacting protein 2;ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9;ATPase, H+ transporting, lysosomal interacting protein 2;ER-localized type I transmembrane adaptor;OTTHUMP00000025770;OTTHUMP00000025771;OTTHUMP00000025773;OTTHUMP00000025774;V-ATPase M8.9 subunit;embryonic liver differentiation factor 10;prorenin receptor;renin receptor;renin/prorenin receptor;vacuolar ATP synthase membrane sector-associated protein M8-9;vacuolar proton ATP synthase membrane sector associated protein M8-9 APPROVED protein-coding ENSG00000182220 HGNC:18305 06454 300423;300556;300911 REVIEWED 1605737 ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21 37266849 37330552 + 40610862 40674597 + 42458844 42522579 + 6480464;6907045;8554872 10221984;10224039;10340843;10440860;11836511;12477932;12643545;12649290;12788495;14580332;14597263;15489334;1704894;17081065;17360703;17662945;18029348;18187620;18505059;19056867;20038947;21139048;21558123;21674799;21890473;21906983;21963094;21988832;22708544;22939629;23000965;24072707;2874839;7774924;8125298;9210392;9442887 535 B7Z2A9;B7Z641;F5H1T6;K7ELZ6;K7EM24;K7EN36;K7ENA1;K7EPG4;K7EQW2;K7ERA0;K7ERA6;Q53ET5;Q53X12;Q5CZH6;Q93050 ABBA01006422;ABBA01006423;AC067852;AC107993;AK223554;AK294512;AK294789;AK295682;AK299784;AK316305;AL096733;AL137683;AMYH02033430;BC032398;BX648978;CH471152;CR627443;L78933;NM_001130020;NM_001130021;NM_005177;U18920;XM_005257459;XM_005257461;XM_005257463;Z71460 AAA69700;AAH32398;AAL77442;BAD97274;BAH11795;BAH11885;BAH12153;BAH13127;BAH14676;CAA96077;CAB70874;CAH10528;CAI56709;EAW60830;EAW60831;NP_001123492;NP_001123493;NP_005168;Q93050;XP_005257516;XP_005257518;XP_005257520 Hs.463074 1688273;1769330;1795406;2136195 2194;ATP6V0A1_708;D17S1365E;RH92453 ATP6N1;ATP6N1A;DKFZp781J1951;Stv1;VPP1;Vph1;a1 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD);ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD);H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1;V-ATPase 116 kDa;V-type proton ATPase 116 kDa subunit a;V-type proton ATPase 116 kDa subunit a isoform 1;clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit;vacuolar adenosine triphosphatase subunit Ac116;vacuolar proton pump subunit 1;vacuolar proton pump, subunit 1;vacuolar proton translocating ATPase 116 kDa subunit A;vacuolar-type H(+)-ATPase 115 kDa subunit APPROVED protein-coding ENSG00000033627 HGNC:865 01886 192130 REVIEWED 1603596 ATP6AP1L ATPase, H+ transporting, lysosomal accessory protein 1-like ENCODES a protein that exhibits proton-transporting ATP synthase activity, rotational mechanism (inferred); proton-transporting ATPase activity, rotational mechanism (inferred); INVOLVED IN ATP hydrolysis coupled proton transport (inferred); FOUND IN integral component of membrane (inferred); proton-transporting V-type ATPase, V1 domain (inferred); INTERACTS WITH (+)-catechin; copper atom; copper(0) 5 5 5 q14.2 77506144 77519126 + 81601166 81614147 + 82305347 82318328 + 6480464 12477932;14702039 92270 Q52LC2 ABBA01062071;AC010598;AC026698;AK022625;AK094973;AK123303;AMYH02011696;AMYH02011697;BC093982;BC112191;BC132947;BC132949;CH471084;NM_001017971;XR_108587;XR_112744;XR_171513;XR_249810;XR_427737 AAH93982;AAI12192;EAW95889;EAW95890;NP_001017971;Q52LC2 Hs.729805 1849644;5037552 D8S2279;G09812 MGC138396 V-type proton ATPase subunit S1-like protein;vacuolar proton pump subunit S1-like protein protein-coding ENSG00000205464 HGNC:28091 18710 VALIDATED 1317997 ATP6V0B ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 1 1 1 p32.3 42724136 42727506 + 44440118 44443972 + 43974446 43978300 + 1580863;6480464;6907045 10221984;10224039;10340843;10440860;11836511;12477932;12788495;12890556;14580332;14597263;15123239;15249206;15489334;17576770;17662945;19460752;21988832;23864651;9210392;9442887;9653649 533 E9PKB6;E9PMR1;E9PNL3;E9PNU0;H0YCC5;Q99437 AB045777;ABBA01050936;AI439545;AL357079;AMYH02000910;BC000423;BC005876;BC042664;BC053601;BG475609;BG831921;BI770034;BP250477;BT007151;CH471059;CR456972;D89052;L05089;NM_001039457;NM_001294333;NM_004047;XM_005270944 AAC15853;AAH00423;AAH05876;AAP35815;BAA13753;BAC02927;CAG33253;EAX07066;EAX07067;EAX07068;EAX07069;NP_001034546;NP_001281262;NP_004038;Q99437;XP_005271001 Hs.596514 1680619;1695000;1730267;2124550;7184711;7187617 D1S280E;G44713;HSCZOA042;RH67811 ATP6F;HATPL;VMA16 ATPase, H+ transporting, lysosomal, 21-KD, V0 subunit C-prime, prime;ATPase, H+ transporting, lysosomal, subunit F;H(+)-transporting two-sector ATPase, subunit F;OTTHUMP00000010012;OTTHUMP00000231252;OTTHUMP00000231253;OTTHUMP00000231254;OTTHUMP00000231257;V-ATPase 21 kDa proteolipid subunit;V-ATPase subunit c'';V-type proton ATPase 21 kDa proteolipid subunit;vacuolar ATP synthase 21 kDa proteolipid subunit;vacuolar proton pump 21 kDa proteolipid subunit;vacuolar proton pump, 21 kDa subunit APPROVED protein-coding ENSG00000117410 HGNC:861 04759 603717 REVIEWED 733467 ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013] X X X q28 153818024 153825908 + 153656978 153664862 + 154428632 154436517 + 1300048;1580863;6480464;6907045 10221984;10224039;10336633;10340843;10440860;11076863;11923311;11983866;12477932;14702039;15489334;15489336;16169070;16196087;16303743;16344560;16381901;17290355;19056867;19246570;19913121;20628086;21139048;21622230;21906983;21963094;21987572;21988832;22044156;22268729;22505724;22810585;22939629;23284715;8034313;8248200;8281148;8733135;9210392;9442887 537 A6NLC6;A6QRJ1;F2Z3L8;H7C0T7;H7C2Y8;Q15904 ABBA01045278;ABBA01045279;ABBA01045280;ABBA01045281;ABBA01045282;ABBA01045283;AC244090;AK026519;AK075284;AK090462;AK091083;AK130616;AK289452;AK301603;AL136851;BC000724;BC109247;BX461330;BX936347;BX936385;CH471172;D16469;DA921677;DB569252;NM_001183;X87195 AAH00724;ABM83065;ABM86259;BAA03938;BAC03443;BAC11520;BAF82141;BAG52282;BAG63090;CAB66785;CAL37445;CAL38190;CAL38747;EAW72712;EAW72713;EAW72714;EAW72715;NP_001174;Q15904 Hs.633817;Hs.6551 1657750;1665745;1667649;1702278;1703114;1748063;1748065;1787972;1787974;1787976;1787978;1799974;1800456;1800500;1800740;1801122;1802538;1803456;1803870;1806942;1807752;1807754;1808018;1810544;1811570;1812090;1812162;1812364;1812436;1812628;1813168;1813966;1816458;1817284;1817662;1817984;1825204;1831038;1833682;1839912;1844382;1844522;1844912;1845378;2037022;2037024;2037026;2037028;2037030;2037032;2037034;2037036;2037038;2037040;2037042;2037044;2037046;2037048;2037050;2037052;2037054;2037056;2037058;2037060;2037062;2037064;2037066;2037068;2037070;2037072;2037074;2037076;2037078;2037080;2037082;2037084;2037086;2037088;2037090;2037092;2037094;2037096;2037098;2037100;2037102;2037104;2037106;2037118;2037120;2037122;2037126;2037128;2037130;2037132;2037134;2037136;2037140;2037142;2037144;2037146;2037148;2037150;2037152;2037154;2037156;2037160;2037162;2037164;2037166;2037168;2037170;2037180;2037182;2037184;2037186;2037190;2037192;2037194;2037196;2037198;2037200;2037202;2037204;2037206;2037208;2037212;2037214;2037218;2037222;2037234;2037236;2037238;2037240;2037242;2037244;2037246;2037248;2037250;2037252;2037254;2037256;2037258;2037260;2037262;2037264;2037276;2037278;2037280;2037282;2037284;2037286;2037288;2037290;2037292;2037294;2037296;2037298;2037300;2037302;2037304;2037306;2037308;2037310;2037312;2037314;2037318;2037320;2037322;2037324;2037326;2037328;2037330;2037332;2102536;2102538;2102540;2102542;2102548;2102550;2102552;2102554;2102556;2102562;2102564;2102566;2107147;2148947;2176605;2178179;2190599;2219020;5021048 ATP6AP1__4395;DXS7072;DXS7587;DXS9771;ECD00841;ECD01088;ECD01110;ECD01231;ECD01433;ECD02155;ECD02625;ECD02847;ECD04436;ECD04849;ECD04850;ECD04987;ECD06265;ECD06788;ECD07050;ECD07086;ECD07189;ECD07225;ECD07324;ECD07603;ECD08010;ECD09271;ECD09692;ECD09883;ECD10047;ECD13703;ECD16655;ECD17986;ECD21139;ECD23405;ECD23475;ECD23672;ECD23906;G65808;G65809;G67208;G67209;G67210;G67211;GDI1;GDI1__6799;REN89522;REN89523;REN89524;REN89525;REN89526;REN89527;REN89528;REN89529;REN89530;REN89531;REN89532;REN89533;REN89534;REN89535;REN89536;REN89537;REN89538;REN89539;REN89540;REN89541;REN89542;REN89543;REN89544;REN89545;REN89546;REN89547;REN89548;REN89549;REN89550;REN89551;REN89552;REN89553;REN89554;REN89555;REN89556;REN89557;REN89558;REN89559;REN89560;REN89561;REN89562;REN89563;REN89564;REN89570;REN89571;REN89572;REN89574;REN89575;REN89576;REN89577;REN89578;REN89579;REN89581;REN89582;REN89583;REN89584;REN89585;REN89586;REN89587;REN89588;REN89589;REN89591;REN89592;REN89593;REN89594;REN89595;REN89596;REN89601;REN89602;REN89603;REN89604;REN89606;REN89607;REN89608;REN89609;REN89610;REN89611;REN89612;REN89613;REN89614;REN89615;REN89617;REN89618;REN89620;REN89622;REN89628;REN89629;REN89630;REN89631;REN89632;REN89633;REN89634;REN89635;REN89636;REN89637;REN89638;REN89639;REN89640;REN89641;REN89642;REN89643;REN89649;REN89650;REN89651;REN89652;REN89653;REN89654;REN89655;REN89656;REN89657;REN89658;REN89659;REN89660;REN89661;REN89662;REN89663;REN89664;REN89665;REN89666;REN89667;REN89668;REN89670;REN89671;REN89672;REN89673;REN89674;REN89675;REN89676;REN89677;RH68908;RH77733;SGC34656;STS-M78866;WI-9327;sWXD2362;stSG604043;stSG604044;stSG604045;stSG604046;stSG604053;stSG604055;stSG604056;stSG604057;stSG604058;stSG604062;stSG604067;stSG604068 16A;ATP6IP1;ATP6S1;Ac45;CF2;MGC129781;VATPS1;XAP-3;XAP3 ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1;ATPase, H+ transporting, lysosomal interacting protein 1;H-ATPase subunit;OTTHUMP00000032115;OTTHUMP00000196463;V-ATPase Ac45 subunit;V-ATPase S1 accessory protein;V-ATPase subunit S1;V-type proton ATPase subunit S1;vacuolar proton pump subunit S1 APPROVED protein-coding ENSG00000071553 HGNC:868 02184 300197 REVIEWED 1320849 ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] 12 12 12 q24.31 123793121 123842693 + 124196865 124246302 + 123712318 123761755 + 1580863;6480464;6907045;7240710;8554872;8699517 11836511;12477932;12788495;14580332;14597263;14702039;15301855;15358640;15373763;16027165;16113235;16344560;16415858;17081983;17295899;17662945;17897319;18029348;18157129;19171192;19321599;19322201;19401719;20153292;20301755;20669186;21139048;21178005;21890473;21906983;21963094;22053931;2247090;22479202;22773132;22939629;23000965;23936208;24816145;2874839 23545 F5GX48;F5H5F3;F5H847;Q9Y487 ABBA01060393;ABBA01060394;AC117503;AF112972;AK056800;AK289391;AK298778;AMYH02027458;AMYH02027459;BC000826;BC022300;BC068531;BG106215;BG167832;BG759946;BI562012;BQ050095;BX328381;CB960860;CD654920;CH471054;DA737084;NG_012743;NM_012463;R51339;XM_005253563;XM_006719317;XM_006719318;XR_429088 AAD04632;AAH22300;AAH68531;ADR82758;BAF82080;BAG60919;EAW98434;EAW98436;NP_036595;Q9Y487;XP_005253620;XP_006719380;XP_006719381 Hs.25786 1665887;1691168;2106779;5022578 D1S1423;GC24S19;RH92322;WI-13960 A2;ARCL;ARCL2A;ATP6A2;ATP6N1D;J6B7;RTF;STV1;TJ6;TJ6M;TJ6S;VPH1;WSS A2V-ATPase;OTTHUMP00000239279;V-type proton ATPase 116 kDa subunit a isoform 2;lysosomal H(+)-transporting ATPase V0 subunit a2;regeneration and tolerance factor;v-ATPase 116 kDa;v-type proton ATPase 116 kDa subunit a;vacuolar proton translocating ATPase 116 kDa subunit a APPROVED protein-coding ENSG00000185344 HGNC:18481 16521 219200;278250;611716 REVIEWED 1312856 ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008] 7 7 7 q34 133128799 133220749 - 138391039 138484305 - 138706294 138799560 - 1599383;1580863;6480464;6907045;7240710;8554872;8699517 10973252 10221984;10224039;10340843;10440860;10577919;10600682;11836511;12414817;12477932;12649290;12690205;12788495;14580332;14597263;14638902;14675051;14702039;15800125;16344560;17360703;17662945;17897319;18632794;19056867;19366680;19639346;20221774;20379614;21326311;21963094;22093743;22460948;22854161;23729491;24072707;24252324;2874839;9210392;9442887 50617 Q96N91;Q9HBG4 ABBA01001173;ABBA01001174;ABBA01001175;ABBA01001176;ABBA01001177;ABBA01001178;ABBA01001179;AC018663;AC020983;AF245517;AF249874;AK055789;AK292945;AMYH02016871;AMYH02016872;AMYH02016873;AMYH02016874;BC109304;BC109305;CH236950;CH471070;DA857655;DB230144;HI574138;HI574140;HI574142;NG_008145;NM_020632;NM_130840;NM_130841;XM_005250393;XM_005250394 AAG11415;AAI09305;AAI09306;BAB71014;BAF85634;CBX47558;CBX47559;CBX47560;EAL24043;EAW83892;EAW83893;EAW83894;EAW83895;EAW83896;EAW83897;NP_065683;NP_570855;NP_570856;Q9HBG4;XP_005250450;XP_005250451 Hs.98967 1679756;1789474;1789540;2144771;2183540 D7S1636;D7S3183;D7S3193;GDB:1317754;RH92345 A4;ATP6N1B;ATP6N2;MGC130016;MGC130017;RDRTA2;RTA1C;RTADR;STV1;VPH1;VPP2 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B;ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD);H(+)-transporting two-sector ATPase, noncatalytic accessory protein 1B;OTTHUMP00000211501;OTTHUMP00000211502;V-ATPase 116 kDa;V-type proton ATPase 116 kDa subunit a;V-type proton ATPase 116 kDa subunit a isoform 4;vacuolar proton pump 116 kDa accessory subunit;vacuolar proton pump, subunit 2;vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform APPROVED protein-coding ENSG00000105929 HGNC:866 05576 602722;605239 REVIEWED 1347369 ATP6V0CP1 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 1 17 17 17 p13.2 4775149 4775581 - 4759757 4760694 - 4856462 4857399 - 100132978 ABBA01054777;AC109333;AC233723;AMYH02032835;NG_009542;NG_028005 ATCD1 APPROVED pseudo HGNC:31323 INFERRED 1315777 ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 ENCODES a protein that exhibits hydrogen ion transmembrane transporter activity (inferred); INVOLVED IN ATP hydrolysis coupled proton transport (inferred); cellular iron ion homeostasis (inferred); insulin receptor signaling pathway (inferred); PARTICIPATES IN Mycobacterium tuberculosis infection pathway; oxidative phosphorylation pathway; rheumatoid arthritis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN apical plasma membrane; extracellular vesicular exosome; membrane; INTERACTS WITH 3,4-dichloroaniline; cis-caffeic acid; copper atom 8 8 8 83305507 83360717 + 87111139 87166454 + 86098910 86154225 + 1300048;1580863;6480464;6907045;8554872 11836511;12384298;12477932;12788495;14580332;14597263;14702039;15800125;17662945;18752060;19056867;19818731;21988832;22379998;2874839 245972 E5RHJ7;E5RIR3;Q8N8Y2 ABBA01037356;AC023194;AC084128;AK096027;AMYH02018356;AMYH02018357;AY079172;BC065207;CH471060;NM_152565 AAH65207;AAL87000;BAC04679;EAW91631;EAW91632;NP_689778;Q8N8Y2 Hs.436360 2110273;5017643 ATP6V0D2;ATP6V0D2__4396 ATP6D2;FLJ38708;VMA6 OTTHUMP00000224495;V-ATPase subunit d 2;V-type proton ATPase subunit d 2;atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 2;vacuolar proton pump subunit d 2 protein-coding ENSG00000147614 HGNC:18266 16522 VALIDATED 6480947 ATP6V0E1P1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 1 5 5 132284185 132284407 + 132948493 132948715 + 100874502 ABBA01068792;AC010240;AMYH02012220;NG_032378 pseudo HGNC:41935 INFERRED 5131597 ATP6V0CP3 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 3 6 6 6 p21.1 44247224 44248184 + 42695314 42695932 + 42727576 42728194 + 442211 ABBA01050724;AL049843;AMYH02013625;BQ447003;NR_037141 Hs.563394 1850979 RH66735 pseudo HGNC:40001 VALIDATED 731892 ATP6V0C ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010] 16 16 16 p13.3 2755525 2785155 + 2563727 2570224 + 2513726 2520223 + 1300048;1580863;6480464;6907045 10221984;10224039;10340843;10440860;11543633;11836511;12438748;12477932;12788495;14580332;14597263;1532310;15466867;15489334;16169070;16415858;16751776;1709739;17662945;17897319;18298843;18854154;19056867;19058789;19299075;19875448;21087195;21433058;21988832;22829766;22991218;24166050;24385903;24623842;2874839;7636472;8250920;8741845;9210392;9442887 527 H3BMY0;H3BNI4;P27449 AB046575;ABBA01030251;AC093525;AMYH02031253;AW161158;BC004537;BC007389;BC007759;BC009290;BI548787;BT007155;CH471112;CR541930;CR541951;M62762;NM_001198569;NM_001694 AAA60039;AAH04537;AAH07389;AAH07759;AAH09290;AAP35819;ADZ15776;ADZ15795;BAC06442;CAG46728;CAG46749;EAW85501;NP_001185498;NP_001685;P27449 Hs.389107 1729612;1729614;1740165;1748611;1768279;1772891;1850979;2172544;2182296;5126656 A009J05;D16S283;D16S284;D16S3014;RH66407;RH66735;RH69157;SHGC-110273;SHGC-32888;SHGC-60646 ATP6C;ATP6L;ATPL;VATL;VPPC;Vma3 H(+)-transporting two-sector ATPase, 16 kDa subunit;OTTHUMP00000159089;V-ATPase 16 kDa proteolipid subunit;V-ATPase subunit c;V-type proton ATPase 16 kDa proteolipid subunit;vacuolar ATP synthase 16 kDa proteolipid subunit;vacuolar H+ ATPase proton channel subunit;vacuolar proton pump 16 kDa proteolipid subunit;vacuolar proton pump, 16 kDa subunit APPROVED protein-coding ENSG00000185883 HGNC:855 00162 108745 REVIEWED 6480944 ATP6V0E1P2 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 2 3 3 41900845 41901084 - 41859353 41859592 - 100874503 ABBA01024779;AC104305;AMYH02006615;NG_032379 pseudo HGNC:41936 INFERRED 1314615 ATP6V0D1 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51980121 52023291 - 67471917 67515089 - 67438014 67481186 - 1300048;6480464;6907045;8554872 10221984;10224039;10340843;10440860;11118322;11836511;12477932;12788495;14580332;14597263;14702039;15489334;16196087;16713569;17662945;17897319;18752060;19056867;19165527;19285986;19913121;20628086;21139048;21674799;21890473;21906983;21963094;21987572;22505724;22939629;22990118;23125841;24250222;24332808;2874839;2903164;8250920;8889548;9210392;9442887 9114 F5GYQ1;F8WEN9;H3BPS0;H3BQB4;H3BQJ1;H3BSG7;H3BTB4;H3BTB5;H3BUQ0;J3QL14;P61421;R4GN72 ABBA01025437;ABBA01025438;AC009061;AK125522;AK128641;AK300570;AK301630;AK313035;AMYH02032232;BC008861;BI552108;BM677562;CH471092;L05087;NG_011482;NM_004691;X71490 AAC15852;AAH08861;ABM84196;ABM87600;BAG35868;BAH13305;BAH13524;CAA50591;EAW83135;EAW83136;NP_004682;P61421 Hs.106876 1655578;1678361;1794062;1794466;1794468;5015619;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D8S2279;PMC310777P2;PMC314306P7;PMC314306P8;RH11782;RH65050 ATP6D;ATP6DV;FLJ43534;P39;VATX;VMA6;VPATPD 32 kDa accessory protein;ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D;H(+)-transporting two-sector ATPase, subunit D;OTTHUMP00000174810;V-ATPase 40 KDa accessory protein;V-ATPase AC39 subunit;V-ATPase subunit d 1;V-ATPase, subunit D;V-type proton ATPase subunit d 1;atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 1;vacuolar proton pump subunit d 1 APPROVED protein-coding ENSG00000159720 HGNC:13724 06121 607028 REVIEWED 5132555 ATP6V0E1P3 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 3 2 2 2 p22.3 33665810 33666054 + 33827050 33827852 + 33601983 33602785 + 100133262 ABBA01074909;AC017050;AMYH02003570;NG_029004 pseudo HGNC:41937 INFERRED 6480943 ATP6V0E1P4 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 4 1 1 48015868 48016422 + 47550196 47550750 + 100874504 ABBA01050816;AL356458;AMYH02000973;NG_032380 pseudo HGNC:41938 INFERRED 1604142 ATP6V0E2-AS1 ATP6V0E2 antisense RNA 1 INTERACTS WITH all-trans-retinoic acid; atrazine 7 7 7 q36.1 144233999 144240162 - 149564783 149570951 - 149867694 149873862 - 6480464 12477932;12690205;16344560 401431 AACC02000041;ABBA01033639;AC004877;AC093458;AMYH02017055;AW452405;BC023225;BC028735;CH471146;DA083383;HG500726;HG500727;NR_027040 EAL24438;EAW80024 Hs.556998;Hs.744860 1658457;1661539;1676194;1716189;1850653;2135315;2154250;2162741 D7S2075E;D7S2637;GDB:1318310;RH121117;RH48950;RH65674;RH92234;WIAF-1599 RP4-751H13.6 APPROVED ncrna ENSG00000204934 HGNC:44180 17391 VALIDATED 1350958 ATP6V0E1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 168443924 168495366 + 172410763 172461900 + 172983760 173034897 + 1580863;6480464;6907045;8554872 10221984;10224039;10340843;10440860;11836511;12163484;12477932;12788495;14580332;14597263;14970230;15489334;15906478;17350184;17576770;17662945;2874839;9210392;9442887;9556572 8992 E5RHL5;J3KN48;O15342 ABBA01044032;ABBA01044033;ABBA01044034;AC008429;AI198465;AK312068;AMYH02012762;AMYH02012763;AMYH02012764;BC119714;BC119715;BF691381;CH471062;CR456856;CR542131;NM_003945;Y15286 AAI19715;AAI19716;BAG35004;CAA75571;CAG33137;CAG46928;EAW61417;EAW61418;NP_003936;O15342 Hs.484188 1338235;1725815;2153864;2179618;2181528 D1S2666;G61995;L28302;RH47638;STS-H56007 ATP6H;ATP6V0E;M9.2;Vma21;Vma21p H(+)-transporting two-sector ATPase, subunit H;OTTHUMP00000161073;OTTHUMP00000223525;V-ATPase 9.2 kDa membrane accessory protein;V-ATPase H subunit;V-ATPase M9.2 subunit;V-ATPase subunit e 1;V-type proton ATPase subunit e 1;vacuolar ATP synthase subunit H;vacuolar proton pump H subunit;vacuolar proton pump subunit e 1;vacuolar proton-ATPase subunit M9.2 APPROVED protein-coding HGNC:863 04894 603931 REVIEWED 1321627 ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008] 2 2 2 p13.1 71013684 71043243 + 71162998 71192561 + 70935868 70965431 + 1580863;1599372;6480464;6907045;8699517;8554872 9916796 10221984;10224039;10340843;10440860;10748165;10915794;11836511;12414817;12477932;12500243;12579397;12651853;12788495;14580332;14585495;14597263;14702039;16344560;16433694;16928804;17216496;17662945;18180394;19008710;19056867;19478356;19639346;19913121;20233014;20622307;20628086;20805693;21674799;22509993;22939629;23455924;23729491;23923981;24252324;24816145;2527371;2874839;7945239;8125298;8597961;8849440;8889548;9210392;9442887 525 C9J5E3;C9JL73;C9JNS9;C9JTN0;C9JZ02;P15313 ABBA01075545;AC007040;AK127853;AK223151;AK291121;AK301542;AK313194;AMYH02004046;AMYH02004047;AU126647;BC035978;BC063411;CA944873;CH471053;DA845716;M25809;NG_008016;NM_001692;XM_005264368 AAA36498;AAH63411;BAD96871;BAF83810;BAG36011;BAG63039;EAW99790;EAW99791;NP_001683;P15313;XP_005264425 Hs.64173 1779084;2148892;2189427 MARC_5799-5800:991939724:4;SHGC-14337;STS-AA019900 ATP6B1;MGC32642;RTA1B;VATB;VMA2;VPP3 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness);H(+)-transporting two-sector ATPase, 58kD subunit;H+-ATPase beta 1 subunit;OTTHUMP00000160125;OTTHUMP00000204311;V-ATPase B1 subunit;V-ATPase subunit B 1;V-type proton ATPase subunit B, kidney isoform;atpase, h+ transporting, lysosomal 56/58kda, v1 subunit b, isoform 1 (renal tubular acidosis with deafness);endomembrane proton pump 58 kDa subunit;vacuolar proton pump 3;vacuolar proton pump subunit B 1;vacuolar proton pump, subunit 3 APPROVED protein-coding ENSG00000116039 HGNC:853 01887 192132 REVIEWED 1323585 ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008] 3 3 3 q13.31 111874398 111939560 + 113465866 113530905 + 113747019 113812058 + 1580863;6480464;6907045;8554872 10221984;10224039;10340843;10440860;10931946;11741979;11836511;11991713;12477932;12788495;14580332;14597263;15489334;15952740;17255364;17576770;17662945;17897319;18781797;19056867;19110265;19322201;19405953;19471022;20717956;21139048;21145461;21674799;21693764;21890473;21900206;21906983;21963094;21987572;22053931;22268729;22505724;22561749;22863883;22939629;23000965;23535732;2874839;7575517;8463241;9210392;9442887 523 C9JA17;C9JVW8;F8WDJ3;P38606 ABBA01061648;ABBA01061649;ABBA01061650;AC079944;AC108693;AF113129;AF339827;AK293804;AK295150;AK314779;AL514316;AMYH02007454;AMYH02007455;BC012169;BC013138;BT006672;CA435314;CH471052;DC350361;L09235;NM_001690 AAA83249;AAF14870;AAH13138;AAP35318;BAG37315;BAH11601;BAH11992;EAW79625;EAW79626;EAW79627;EAW79628;NP_001681;P38606 Hs.477155 1671201;1672133;1705310;1735280;2124331;5022450;5037552;5092796 A006E45;D10S275;D3S2929E;D8S2279;G32335;SHGC-77211;SHGC-78613;STS-H75776 ATP6A1;ATP6V1A1;HO68;VA68;VPP2;Vma1 ATPase, H+ transporting, lysosomal, subunit A1;H(+)-transporting two-sector ATPase, subunit A;H+-transporting ATPase chain A, vacuolar (VA68 type);OTTHUMP00000214746;V-ATPase 69 kDa subunit 1;V-ATPase A subunit 1;V-ATPase subunit A;V-type proton ATPase catalytic subunit A;vacuolar ATP synthase catalytic subunit A, ubiquitous isoform;vacuolar ATPase isoform VA68;vacuolar proton pump alpha subunit 1;vacuolar proton pump subunit alpha APPROVED protein-coding ENSG00000114573 HGNC:851 06120 607027 REVIEWED 1606137 ATP6V0E2 ATPase, H+ transporting V0 subunit e2 Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008] 7 7 7 q36.1 144239268 144246884 + 149570053 149577787 + 149872964 149880698 + 6480464;6907045;8554872 12477932;14702039;16303743;17350184;17662945;24250222;2874839;9847074 155066 E9PAS2;F8WDM2;Q8NHE4 AA912295;ABBA01033639;ABBA01033640;AC093458;AF452639;AK057700;AK094602;AK098362;AK172725;AK290086;AMYH02017055;AY037164;BC015899;BE677432;BX640846;CH471146;DB544557;DQ989009;DQ995344;NM_001100592;NM_001289990;NM_145230;NR_110612;XM_005249958 AAK67647;AAP97693;AAQ96859;ABK76305;ABK88279;BAC05292;BAF82775;CAE45916;EAW80020;EAW80021;EAW80022;EAW80023;NP_001094062;NP_001276919;NP_660265;Q8NHE4;XP_005250015 Hs.556998 1661539;1770532;1790539;1850117 A002C21;GDB:1318310;HSC185_(GAP_113_G);WI-15316 ATP6V0E2L;C7orf32 ATPase, H+ transporting V0 subunit E isoform 2-like;ATPase, H+ transporting V0 subunit E2-like;H+-ATPase e2 subunit;OTTHUMP00000212608;OTTHUMP00000212609;OTTHUMP00000212610;OTTHUMP00000212611;V-ATPase subunit e 2;V-type proton ATPase subunit e 2;lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2;vacuolar proton pump subunit e 2;vacuolar proton-ATPase subunit APPROVED protein-coding ENSG00000171130 HGNC:21723 12920 611019 VALIDATED 1354342 ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008] 2 2 2 10777001 10840382 + 10861775 10925236 + 10721649 10785110 + 1580863;6480464;6907045;8554872 11836511;12384298;12477932;12788495;14580332;14597263;15203218;16042619;16344560;17662945;17897319;19056867;20379614;23247143;2874839 245973 Q8NEY4 ABBA01015627;ABBA01015628;ABBA01015629;ABBA01015630;ABBA01015631;AC092687;AK127836;AK292952;AMYH02003273;AY039759;BC012142;BX358022;CD636943;CH471053;DB230703;NM_001039362;NM_144583;XR_426949 AAH12142;AAK83464;AAY24069;ABM83181;ABW03480;BAF85641;EAX00951;EAX00952;NP_001034451;NP_653184;Q8NEY4 Hs.580464 2156296;2160682;2163822;2166235;2178708;5113908 G30227;RH11818;RH70399;RH94195;SGC31703;WI-18107 ATP6C2;VMA5 OTTHUMP00000115522;OTTHUMP00000200400;V-ATPase C2 subunit;V-ATPase subunit C 2;V-type proton ATPase subunit C 2;atpase, h+ transporting, lysosomal 42kda, v1 subunit c isoform 2;vacuolar proton pump subunit C 2 APPROVED protein-coding ENSG00000143882 HGNC:18264 16523 REVIEWED 1348353 ATP6V1D ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008] 14 14 14 q23-q24.2 47863642 47885645 - 67804581 67826720 - 67337864 67360003 - 1580863;6480464;6907045 10221984;10224039;10340843;10440860;10931946;11435709;11836511;11913976;12477932;12788495;14580332;14597263;14702039;15489334;16344560;17207965;17662945;17897319;18752060;19056867;19913121;20628086;21139048;21674799;22939629;24250222;24816145;2874839;8889548;9210392;9442887 51382 G3V2S6;G3V2V6;G3V341;G3V3T8;G3V559;G3V5S7;H0YJ55;H0YJH8;H0YJS0;Q9Y5K8 ABBA01023713;AF077614;AF100741;AF104629;AF145316;AK001155;AK315784;AL139785;AMYH02029399;BC001411;BC025373;BC031002;BF669634;BG236185;BU726615;CH471061;DB039102;NM_015994 AAD33953;AAD40384;AAG30726;AAG43047;AAH01411;AAH25373;AAH31002;ADQ32056;BAA91523;BAG38130;EAW80931;EAW80932;NP_057078;Q9Y5K8 Hs.272630 1722233;1744205;2152022;2163968;2175730;2178836 A002U41;G36025;G60022;GDB:437525;RH11239;RH48795 ATP6M;VATD;VMA8 ATPase, H+ transporting lysosomal, member M;ATPase, H+ transporting, lysosomal (vacuolar proton pump);H(+)-transporting two-sector ATPase, subunit M;OTTHUMP00000245545;OTTHUMP00000245549;OTTHUMP00000245550;OTTHUMP00000245551;OTTHUMP00000245552;V-ATPase 28 kDa accessory protein;V-ATPase D subunit;V-ATPase subunit D;V-type proton ATPase subunit D;vacuolar ATP synthase subunit D;vacuolar H-ATPase subunit D;vacuolar proton pump D subunit;vacuolar proton pump delta polypeptide;vacuolar proton pump subunit D;vacuolar proton-ATPase subunit D APPROVED protein-coding HGNC:13527 16524 609398 REVIEWED 732120 ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008] 8 8 8 p21.3 19017312 19041815 + 20054704 20079207 + 20197193 20221696 + 1300048;1580863;6480464;6907045 10221984;10224039;10340843;10440860;11836511;12477932;12643545;12670943;12788495;1373501;14580332;14597263;14702039;15489334;17081065;17662945;17897319;18029348;19056867;19738201;20038947;20379614;20381070;20889312;21139048;2145275;21674799;21890473;21906983;22863883;22939629;23398456;23620142;23874603;24816145;2874839;7706273;7945239;9210392;9442887 526 E5RGH6;H0YAT8;H0YC04;H0YC45;P21281 AB208806;ABBA01021549;AC025853;AK127443;AK294163;AK298819;AK312372;AMYH02017570;BC003100;BC007309;BC030640;CH471080;HI574180;L35249;M60346;NM_001693;X62949;Z37165 AAA35610;AAA58661;AAH03100;AAH07309;AAH30640;ABM82763;ABM85949;BAD92043;BAG35290;BAG57486;BAG60951;CAA44721;CAA85522;CBX47579;EAW63758;EAW63759;NP_001684;P21281 Hs.295917 1661966;1723391;1771141;2107867;5114923 ATP6V1B2_8221;D8S1949;RH118507;RH69321;WI-19010 ATP6B1B2;ATP6B2;HO57;VATB;VPP3;Vma2 H+ transporting two-sector ATPase;OTTHUMP00000161707;V-ATPase B2 subunit;V-ATPase subunit B 2;V-type proton ATPase subunit B, brain isoform;atpase, h+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kda, isoform 2;endomembrane proton pump 58 kDa subunit;vacuolar H+-ATPase 56,000 subunit;vacuolar proton pump subunit B 2 APPROVED protein-coding ENSG00000147416 HGNC:854 06088 606939 REVIEWED 8695112 ATP6V1B1-AS1 ATP6V1B1 antisense RNA 1 2 2 p13.3 71169143 71175744 - 70942013 70948611 - 101927750 ABBA01075545;AC007040;AMYH02004046;BM014398;BM464091;HG494193;NG_008016;NR_110273;NR_110274 Hs.676120 ncrna ENSG00000239322 HGNC:51118 VALIDATED 1351681 ATP6V1E1P1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 1 1 1 1 p34.2 41650890 41651570 + 43368903 43369583 + 42903232 42903912 + 343515 ABBA01050970;AC099795;AMYH02000888;NG_016586 1666812;1744395 GDB:452644;WI-15321 ATP6EP1;ATP6V1EP1 APPROVED pseudo HGNC:859 INFERRED 1343908 ATP6V1E1P2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 2 18 18 18 21342328 21342631 - 24532165 24532468 - 26952201 26952504 - 100462844;532 ABBA01022568;AC023575;AMYH02034460;NG_026284;NG_029856 1744373 GDB:452617 ATP6EP2;ATP6V1EP2 APPROVED pseudo HGNC:860 INFERRED 1322350 ATP6V1C1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008] 8 8 8 q22.3 100220060 100272082 + 104033248 104085285 + 103021020 103073057 + 1300048;1580863;6480464;6907045 10221984;10224039;10340843;10440860;11752456;11836511;12477932;12788495;12890556;14580332;14597263;14702039;15489334;16344560;16415858;17207965;17662945;17897319;19056867;20379614;20819778;21139048;2147024;21526910;21674799;21890473;21906983;22863883;22939629;23000965;24250222;2874839;8250920;9210392;9442887 528 E7EV59;P21283 AA242944;ABBA01037628;ABBA01037629;AF363578;AK000064;AK090702;AK298617;AK308632;AL707882;AMYH02018541;AP003550;AU137773;AV649881;AW505309;AX399853;BC010960;BI821321;BX648079;CH471060;J05682;NM_001695;X69151 AAA36803;AAH10960;AAL50383;ACE86916;ACE87603;ADQ31698;BAH12829;CAA48903;CAD33297;EAW91859;EAW91860;NP_001686;P21283 Hs.86905 1778623;2123959;2180290;2181338;2219022 ATP6V1C1__4398;D8S1610;RH78580;SHGC-2582;STS-N33243 ATP6C;ATP6D;FLJ20057;VATC;Vma5 H(+)-transporting two-sector ATPase, subunit C;H+ -ATPase C subunit;H+-transporting ATPase chain C, vacuolar;OTTHUMP00000227403;OTTHUMP00000227404;OTTHUMP00000227405;OTTHUMP00000227406;V-ATPase C subunit;V-ATPase subunit C 1;V-type proton ATPase subunit C 1;subunit C of vacuolar proton-ATPase V1 domain;vacuolar ATP synthase subunit C;vacuolar proton pump C subunit;vacuolar proton pump subunit C 1;vacuolar proton pump, 42-kD subunit;vacuolar proton-ATPase, subunit C, VI domain APPROVED protein-coding ENSG00000155097 HGNC:856 04371 603097 REVIEWED 1348896 ATP6V1E1P3 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 3 12 12 12 q14.2 64397785 64398741 - 64731729 64732685 - 64337949 64338905 - 729435 ABBA01026608;AC135279;AMYH02026662;NG_009357 ATP6EL1;ATP6V1EL1 APPROVED pseudo HGNC:858 INFERRED 1347206 ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008] 22 22 22 q11.1 1694652 1731337 - 18074902 18111588 - 17592136 17628822 - 1580863;6480464;6907045 10221984;10224039;10340843;10440860;10748165;10915794;11381032;11399750;11560919;11836511;12036578;12163484;12477932;12788495;14580332;14597263;14667819;1533641;15489334;16155006;16169070;16196101;17662945;17897319;19056867;21139048;21674799;21832049;21900206;21906983;22395867;22505724;22863883;22939629;24816145;2874839;8004105;8250920;9210392;9405660;9442887 529 C9J8H1;P36543;Q53Y06 ABBA01001440;ABBA01001441;ABBA01001442;ABBA01001443;ABBA01001444;AC004019;AC006285;AC007666;AI565049;AK294623;AK312394;AK315941;AMYH02038007;AMYH02038008;AW406069;BC004443;BE735148;BI546032;BI597419;BQ888820;BT007128;CH471193;CK005516;CR456385;KF457350;NG_009214;NM_001039366;NM_001039367;NM_001696;X71491;X76228 AAH04443;AAP35792;ACE86484;ACE87165;BAG35311;BAG57804;BAH14312;CAA50592;CAA53814;CAG30271;CAK54374;CAK54673;EAW57762;EAW57763;EAW57764;EAW57765;NP_001034455;NP_001034456;NP_001687;P36543 Hs.517338 1666812;1675696;1694628;1744373;1744395;1756533;1779037;2218272;5024384 ATP6V1E1_4399;G43351;GDB:452617;GDB:452644;RH1695;RH79089;SHGC-143563;SHGC-36174;WI-15321 ATP6E;ATP6E2;ATP6V1E;P31;Vma4 H(+)-transporting two-sector ATPase, 31kDa subunit;H+-transporting ATP synthase chain E, vacuolar;OTTHUMP00000065606;OTTHUMP00000196213;OTTHUMP00000214152;OTTHUMP00000214153;V-ATPase 31 kDa subunit;V-ATPase subunit E 1;V-ATPase, subunit E;V-type proton ATPase subunit E 1;vacuolar proton pump subunit E 1 APPROVED protein-coding ENSG00000131100 HGNC:857 00163 108746 REVIEWED 1605148 ATP6V1G1P2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 2 8 8 8 q11.21 44089500 44089846 - 48105626 48105972 - 47194003 47194349 - 100128541 ABBA01018447;AC120036;AMYH02017932;NG_022387 1735824 D8S1428E ATP6V1GP2 APPROVED pseudo HGNC:29359 INFERRED 3051015 ATP6V1G1P3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 3 9 9 9 110188024 110188301 + 139674390 139674667 + 136779938 136780215 + 100462838 ABBA01022721;AL355987;AMYH02021911;NG_021680 pseudo HGNC:37670 INFERRED 1348011 ATP6V1G1P1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 1 14 14 14 q32.33 86181251 86182739 - 106250833 106252309 - 105784496 105785972 - 319116 ABBA01074082;AC244664;AL122127;NG_001019 ATP6V1GP1 APPROVED pseudo HGNC:19816 VALIDATED 1320793 ATP6V1G1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008] 9 9 9 q32 87997647 88008806 + 117349994 117361152 + 114587714 114598872 + 1298632;1580863;6480464;6907045 9653160 10221984;10224039;10340843;10440860;11042152;11836511;12384298;12477932;12788495;14580332;14597263;15489334;16169070;16189514;16751776;17207965;17360703;17662945;17897319;19056867;21139048;21674799;21832049;21988832;22863883;22939629;24250222;24816145;2874839;9210392;9442887 9550 O75348 ABBA01042665;AF038954;AI092246;AL160275;AMYH02021518;AMYH02021519;BC003564;BC008452;BF692207;BI596632;CH471090;CR456971;CR542237;NM_004888 AAC39868;AAH08452;ADQ32411;CAG33252;CAG47033;EAW87424;EAW87425;NP_004879;O75348 Hs.388654 1681544 RH98627 ATP6G;ATP6G1;ATP6GL;ATP6J;DKFZp547P234;Vma10 ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J;OTTHUMP00000022758;V-ATPase 13 kDa subunit 1;V-ATPase subunit G 1;V-type proton ATPase subunit G 1;atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 1;vacuolar ATP synthase subunit M16;vacuolar H(+)-ATPase subunit G 1;vacuolar proton pump subunit G 1;vacuolar proton pump subunit M16 APPROVED protein-coding HGNC:864 06294 607296 REVIEWED 1351850 ATP6V1F ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008] 7 7 7 q32 123299412 123302416 + 128502857 128505903 + 128862803 128865849 + 631896;1580863;6480464;6907045 8621738 10221984;10224039;10340843;10440860;11836511;12477932;12690205;12788495;14580332;14597263;15489334;16169070;17662945;18752060;19056867;19723111;21139048;21890473;21906983;21963094;22053931;22505724;22863883;22939629;24250222;2874839;8012384;8581736;8889548;9210392;9442887 9296 A4D1K0;Q16864 ABBA01057652;AC025594;AK312214;AMYH02016720;BC104230;BC104231;BC107854;BG724326;BU683155;BU956696;CH236950;CH471070;CR456896;D49400;DB499437;NM_001198909;NM_004231;Z55117;Z61564 AAI04231;AAI04232;AAI07855;BAA08392;BAG35147;CAG33177;EAL24110;EAW83692;EAW83693;NP_001185838;NP_004222;Q16864 Hs.78089 1667669;1736316;2176542;2217050;5017560;5024147 ATP6V1F;ATP6V1F_3928;D12S1251E;D12S1957;G23109;WI-14997 ATP6S14;MGC117321;MGC126037;MGC126038;VATF;Vma7 ATPase, vacuolar, 14 kD;H(+)-transporting two-sector ATPase, 14kD subunit;OTTHUMP00000212841;OTTHUMP00000212842;V-ATPase 14 kDa subunit;V-ATPase F subunit;V-ATPase subunit F;V-type proton ATPase subunit F;adenosinetriphosphatase 14k chain;vacuolar ATP synthase subunit F;vacuolar proton pump F subunit;vacuolar proton pump subunit F APPROVED protein-coding ENSG00000128524 HGNC:16832 06198 607160 REVIEWED 3051014 ATP6V1G1P5 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 5 5 5 5 146780369 146780722 + 150698986 150699339 + 151319425 151319778 + 100462840 ABBA01026263;AC008385;AMYH02012464;NG_021901 pseudo HGNC:37672 INFERRED 6480950 ATP6V1G1P7 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 7 13 13 104096370 104097918 - 103444020 103445568 - 100874514 ABBA01027066;AL354763;AMYH02028631;NG_032360 pseudo HGNC:39852 INFERRED 3051013 ATP6V1G1P4 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 4 10 10 10 35212574 35212905 + 35447234 35447565 + 35158306 35158637 + 100462843 ABBA01033345;AL157783;AMYH02022613;NG_022168;NG_029065 pseudo HGNC:37671 INFERRED 3077590 ATP6V1G1P6 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 6 5 5 5 q14.1 73410887 73411255 + 77518079 77518447 + 78222255 78222623 + 100462732 ABBA01061993;AC112197;AMYH02011626;NG_021444 1705370 SHGC-83541 pseudo HGNC:37673 INFERRED 1347481 ATP6V1G2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011] 6 6 6 p21.3 33110473 33112857 - 31512228 31514625 - 31544451 31546848 - 1302931;1580863;6480464;6907045 10202016 10221984;10224039;10340843;10440860;11836511;12384298;12477932;12665801;12788495;14574404;14580332;14597263;14667819;15342556;16101831;16971954;17081065;17662945;19851445;19913121;20379614;20628086;20854863;21139048;21565611;24816145;2874839;9210392;9442887 534 H0Y474;O95670;Q6NVJ2 AA401769;AB063177;AB088115;AB097672;AB102692;AB103621;AB202112;ABBA01038081;AL662801;AL662847;AMYH02013452;BA000025;BC047791;BC068023;BC119726;BC119727;BP195978;BX001040;BX248516;BX927320;C20601;CH471081;CR753820;CR753864;CR753892;CR942185;NG_012344;NM_001204078;NM_130463;NM_138282;Y14768 AAH68023;AAI19727;AAI19728;BAB63399;BAC00863;BAC54952;BAD74057;BAD74058;BAE78636;BAF31286;CAA75073;EAX03414;EAX03416;NP_001191007;NP_569730;NP_612139;O95670 Hs.249227 1682267;2218274 ATP6V1G2_4400;RH93173 ATP6G;ATP6G2;NG38;VMA10 ATPase, H+ transporting, lysosomal (vacuolar proton pump);ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G;H(+)-transporting two-sector ATPase, subunit G2;OTTHUMP00000029286;OTTHUMP00000165896;OTTHUMP00000215151;V-ATPase 13 kDa subunit 2;V-ATPase G subunit 2;V-ATPase subunit G 2;V-type proton ATPase subunit G 2;atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 2;vacuolar ATP synthase subunit G 2;vacuolar proton pump G subunit 2;vacuolar proton pump subunit G 2 APPROVED protein-coding ENSG00000213760 HGNC:862 06030 606853 REVIEWED 1323263 ATP6V1E2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 ENCODES a protein that exhibits hydrogen-exporting ATPase activity, phosphorylative mechanism (inferred); proton-transporting ATPase activity, rotational mechanism (inferred); INVOLVED IN ATP hydrolysis coupled proton transport (inferred); cellular iron ion homeostasis (inferred); insulin receptor signaling pathway (inferred); PARTICIPATES IN oxidative phosphorylation pathway; rheumatoid arthritis pathway; Vibrio cholerae infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN acrosomal vesicle (inferred); cytosol (inferred); proton-transporting two-sector ATPase complex, catalytic domain (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; atrazine 2 2 2 p21 46577658 46585772 - 46738986 46769551 - 46511847 46542412 - 1580863;6480464;6907045;8554872 10748165;11836511;12036578;12477932;12788495;14580332;14597263;14702039;15489334;15815621;17207965;17662945;21906983;2874839 90423 Q96A05 AB074759;ABBA01075137;AC018682;AK058055;AMYH02003735;BC008981;BC034808;BG717423;CH471053;NM_080653;XM_005264633;XM_005264634 AAH08981;AAH34808;AAY14833;ADQ31586;BAB71643;BAC00847;EAX00253;NP_542384;Q96A05;XP_005264690;XP_005264691 Hs.659656 ATP6E1;ATP6EL2;ATP6V1EL2;MGC9341;VMA4 OTTHUMP00000159034;V-ATPase subunit E 2;V-type proton ATPase subunit E 2;atpase, h+ transporting, lysosomal 31kda, v1 subunit e isoform 2;vacuolar proton pump subunit E 2;vacuolar-type proton-translocating ATPase subunit E1 protein-coding ENSG00000250565 HGNC:18125 16525 VALIDATED 3051021 ATP7BP1 ATPase, Cu++ transporting, beta polypeptide pseudogene 1 18 18 18 16805945 16806424 - 19998780 19999259 - 22418817 22419296 - 100462825 ABBA01022660;AC099849;AMYH02034397;NG_022482 pseudo HGNC:31014 INFERRED 5133074 ATP6V1G2-DDX39B ATP6V1G2-DDX39B readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) and DDX39B (DEAD box polypeptide 39B) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript and is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 6 6 p 31497996 31514625 - 31530219 31546848 - 6480464;8554872 12477932;16101831;20967262;21912425;22197932 100532737 F2Z307 ABBA01038080;ABBA01038081;AL662801;AL662847;AMYH02013452;BC004350;BX001040;BX248516;BX927320;CR753820;CR753864;CR753892;CR942185;CT009531;NR_037853 Hs.254042 1689300;1728965;5017795 CH241-100F12_SP6;D17H6S81E-1;RH1521 APPROVED ncrna ENSG00000254870 HGNC:41999 VALIDATED 1312186 ATP6V1G3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q31.3 171614921 171632643 - 198492352 198510075 - 198523222 198540945 - 1580863;6480464;6907045 10221984;10224039;10340843;10440860;11836511;12384298;12477932;12788495;1415677;14580332;14597263;15489334;16710414;17360703;17662945;19366680;20139978;23648065;2874839;9210392;9442887 127124 Q96LB4 ABBA01027578;AC212752;AL157402;AMYH02002444;AY039760;BC101129;BC101130;BC101131;BF509031;BX114684;CH471067;NM_133262;NM_133326;XM_006711163;XM_006724958 AAI01130;AAI01131;AAI01132;AAK83465;EAW91298;EAW91299;NP_573569;NP_579872;Q96LB4;XP_006711226;XP_006725021 Hs.127743 ATP6G3;MGC119810;MGC119813;Vma10 ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G3;OTTHUMP00000033686;OTTHUMP00000216846;OTTHUMP00000216847;V-ATPase 13 kDa subunit 3;V-ATPase G subunit 3;V-ATPase G3 subunit;V-ATPase subunit G 3;V-type proton ATPase subunit G 3;vacuolar ATP synthase subunit G 3;vacuolar proton pump G subunit 3;vacuolar proton pump subunit G 3;vacuolar proton pump, subunit G3 APPROVED protein-coding ENSG00000151418 HGNC:18265 16526 REVIEWED 1320995 ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 8 8 8 q11.2 50618400 50746017 - 54628103 54756099 - 53715543 53843311 - 1580863;6480464;6907045;8554872 10810093;10931946;11179428;11329013;11463741;11836511;12032142;12058068;12163484;12477932;12539959;12788495;14580332;14597263;14702039;15489334;16103193;16169070;16344560;17897319;18368028;19056867;19815536;2014052;20488787;20639865;21139048;21674799;21871445;21890473;21906983;21963094;21987572;21988832;22053931;22360420;22863883;22939629;23000965;23092984;23956138;24816145;2874839;9442887;9620685 51606 B3KUZ7;B4E054;E5RG49;E5RHH0;E5RJG1;E5RK31;G3V126;H0YB41;Q9UI12 ABBA01041720;ABBA01041721;ABBA01041722;ABBA01041723;ABBA01041724;ABBA01041725;AC022887;AC103778;AC113194;AF112204;AF113222;AF125105;AF132945;AF298777;AI741756;AK022345;AK094839;AK098305;AK303229;AK308204;AL598970;AL833183;AMYH02017992;AMYH02017993;AMYH02017994;AX879062;BC007421;BC007454;BC014862;BC025275;BG197001;CH471068;DA147153;DB464555;NM_015941;NM_213619;NM_213620;XM_006716455 AAD27720;AAF17192;AAG22809;AAG39293;AAH25275;AAL75942;BAG51072;BAG53609;BAG64316;CAE90355;EAW86727;EAW86728;EAW86729;EAW86730;EAW86731;EAW86732;EAW86733;NP_057025;NP_998784;NP_998785;Q9UI12;XP_006716518 Hs.491737 1739771;1857809;1858544;2125844;2137802;2155061;2157946 2004;A003B09;D20S765E;IB299;RH12012;RH46206;SHGC-56460 CGI-11;MSTP042;NBP1;SFD;SFDalpha;SFDbeta;VMA13 OTTHUMP00000226227;OTTHUMP00000226228;OTTHUMP00000226253;OTTHUMP00000226254;V-ATPase 50/57 kDa subunits;V-ATPase H subunit;V-ATPase subunit H;V-type proton ATPase subunit H;nef-binding protein 1;protein VMA13 homolog;vacuolar ATP synthase subunit H;vacuolar ATPase subunit H;vacuolar proton pump H subunit;vacuolar proton pump subunit H;vacuolar proton pump subunit SFD APPROVED protein-coding ENSG00000047249 HGNC:18303 10591 608861 REVIEWED 10216 ATP7A ATPase, Cu++ transporting, alpha polypeptide This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013] X X X q21.1 77407059 77546975 + 77166194 77305892 + 77910656 78050395 + 734621;1580863;6480464;7240710;8548473;8554872;8699517 10739752;22796517 10079814;10079817;10319589;10401004;10484781;10497213;10557326;10567439;10970802;11040994;11092760;11214319;11241493;11350187;11431706;11936860;12221109;12393797;12485191;12485192;12539960;12539963;12565888;12676902;12679332;12812980;14572476;14635105;14644159;14702039;14977365;14985388;15071553;15135234;15342556;15372525;15670166;15772651;15981243;16051599;16083905;16172131;16211579;16317117;16344560;16397091;16826513;16873374;16884690;17003121;17108763;17109627;17158254;17178205;17496194;17531189;17545667;17562324;17717039;17987894;17989919;18030470;18272047;18515074;18565219;18650808;18688737;18752978;19046832;19127267;19153371;19194885;19453293;19645496;19679821;19917612;19946888;20045993;20170900;20301586;20566629;20671235;20714486;21115196;21117320;21139048;21221114;21242307;21494555;21646353;21667063;21716286;22053931;22074552;22130675;22210628;22304828;22710939;22939629;22992316;23281160;23345593;23596324;23751120;23963605;24100245;24150977;24403508;24735419;24754450;7490081;7607665;7842019;7977350;8490646;8490647;8490659;8526465;8812725;8923001;8943055;8947031;8981948;9147644;9246006;9437429;9467005;9668166;9693104;9817923 538 B4DRW0;Q04656;Q762B6 AB117973;AB208828;ABBA01029575;ABBA01029576;ABBA01029577;ABBA01029578;ABBA01029579;ABBA01029580;ABBA01029581;ABBA01029582;ABBA01029583;ABBA01029584;ABBA01029585;ABBA01029586;ABBA01029587;ABBA01029588;ABBA01029589;AK096667;AK299449;AL356235;AL645821;AL772330;AMYH02039820;AY011418;BP364137;BU753163;BX503903;CD299174;CH471104;DB164588;HC679684;L06133;L06476;NG_013224;NM_000052;NM_001282224;NR_104109;U27360;U27381;X82336;Z94753;Z94801 AAA16974;AAA35580;AAA96010;AAG47452;AAI56438;BAC82353;BAD92065;BAG61422;CAB08160;CAB08162;CAB94714;CBL93959;EAW98605;EAW98606;NP_000043;NP_001269153;Q04656 Hs.496414;Hs.733232 1335235;1336636;1702604;1703164;1744143;1854132;1854134;2110275;2129677;2144288;2151213;2155472;2156606;2184550;5015619;5020946;5022200;5024413;5109281;5117080;5117082;5117086;5117088;7186248 AL023617;ATP7A__4401;D11S3114;D1S1425;DXS1494;DXS6743;DXS986;DXS990;G10612;G18202;GDB:392043;GDB:435280;GDB:435283;GDB:435290;GDB:435294;GDB:437238;L17877;L17971;L18426;L47618;L77252;SHGC-31483;SHGC-8964 DSMAX;FLJ17790;MK;MNK;SMAX3 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome);Cu++-transporting P-type ATPase;Menkes disease-associated protein;OTTHUMP00000023593;copper pump 1;copper-transporting ATPase 1 APPROVED protein-coding ENSG00000165240 HGNC:869 02054 300011;300489;304150;309400 REVIEWED 6480957 ATP8A2P3 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 3 13 13 26688547 26728313 - 26114409 26154175 - 100874518 ABBA01007912;AL138966;AMYH02027728;AMYH02027729;NG_032522 pseudo HGNC:42641 INFERRED 5131587 ATP8A2P2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 2 13 13 33051311 33052987 + 32477174 32478850 + 100533851 ABBA01010141;AL137247;AL353665;AMYH02027824;NG_028886 pseudo HGNC:39663 INFERRED 731392 ATP7B ATPase, Cu++ transporting, beta polypeptide This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008] 13 13 13 q14.3 33555444 33634269 - 52506805 52586181 - 51905617 52012109 - 734622;2292670;2298865;1643593;2298864;2292672;6480464;7240710;8548473;8554872;8699517 11802810;12216079;15790435;16488995;17303181;22796517;8037756 10051024;10334941;10447265;10497213;10502776;10502777;10544227;10557326;10721669;10790207;10940336;10942420;11043508;11053407;11180609;11243728;11405812;11470780;11690702;11775208;11775546;11806854;11823463;11857545;12029094;12186999;12196182;12325021;12445675;12477932;12539960;12539962;12544487;12551905;12557139;12572677;12579329;12579336;12763797;12812649;12820478;12885331;12968035;14514926;14616767;14709553;14966923;14986826;15024742;15057823;15071553;15102688;15135234;15154620;15158437;15205462;15269005;15337266;15511628;15519648;15557537;15681833;15845031;15952988;15963506;15967699;16088907;16211609;16215951;16230279;16283883;16310588;16344560;16377579;16416207;16472602;16554302;16567646;16571664;16573520;16632204;16676348;16700326;16884690;16939419;17109627;17160357;17171802;17196137;17229731;17272994;17317524;17325640;17410460;17531189;17562324;17587212;17634212;17660582;17680703;17717039;17718866;17823867;17876883;17897870;17919502;17944925;17949296;18180385;18203200;18371106;18373411;18483695;18521802;18558714;18565219;18593893;18636185;18637198;18652531;18688737;18692069;18698682;18809983;18841562;18855987;18974300;19033537;19046832;19062534;19141620;19181666;19296535;19322201;19371217;19416479;19419418;19478447;19520855;19634275;19645496;19783880;19946888;20032459;20045993;20082719;20124325;20201926;20301334;20301685;20333758;20362556;20430895;20465995;20485189;20491539;20566629;20708958;20739809;20799727;20931554;20965182;21034864;21115196;21117320;21139048;21189263;21219664;21242307;21398519;21406592;21454443;21645214;21796144;21832955;21890473;22046264;22075048;22130675;22145502;22240481;22258517;22356903;22459168;22484412;22574136;22677543;22692182;22720273;22720308;22763723;22774841;22898812;22950421;23159873;23219664;23221602;23235335;23275100;23333878;23518715;23650006;23751120;23760784;23789284;23803742;23830383;23843956;23948886;23963605;23982005;24023303;24094725;24706876;7626145;7762553;7833924;8250934;8298639;8298640;8298641;8533760;8782057;8889548;8889549;8931691;8938442;8980283;9222767;9307043;9311736;9482578;9554743;9600907;9671269;9724794;9772425;9829905;9887381 540 B7ZLR4;E7ET55;F5H562;F5H748;P35670 AA047378;AB209461;ABBA01051051;ABBA01051052;ABBA01051053;AF034838;AF220215;AF254559;AF254560;AK302074;AK302490;AL138821;AL139082;AL162377;AMYH02028038;AMYH02028039;AMYH02028040;BC117200;BC143973;BC143974;BC143975;BC143976;BU682287;BX479483;BX648261;CH471075;DA125470;DQ015922;L25442;L25591;NG_008806;NM_000053;NM_001005918;NM_001243182;S77446;S77447;S77450;U03464;U11700;XM_005266423;XM_005266424;XM_005266427;XM_005266428;XM_005266429;XM_005266430;XM_005266431;XM_005266432;XM_006719837;XM_006719838;XM_006719839;XR_429217 AAA16173;AAA79211;AAA79212;AAA92667;AAB34086;AAB34087;AAB52902;AAD01998;AAD14987;AAF67661;AAG27536;AAG27537;AAI17201;AAI43974;AAI43976;AAI43977;AAY41166;BAD92698;BAG63463;BAG63775;EAX08892;EAX08893;EAX08894;EAX08895;EAX08896;NP_000044;NP_001005918;NP_001230111;P35670;XP_005266480;XP_005266481;XP_005266484;XP_005266485;XP_005266486;XP_005266487;XP_005266488;XP_005266489;XP_006719900;XP_006719901;XP_006719902 Hs.492280 1648904;1675814;1703832;1720049;1744567;1744569;1744571;1744573;1744575;1744577;1744579;1744581;1744587;1744589;1744591;1744601;1744603;1744605;1744607;1744609;1744611;1744613;1744615;1762651;1763361;2130628;2156518;2218276 ATP7B_4402;D19S1101;GDB:532997;GDB:533003;GDB:533006;GDB:533013;GDB:533021;GDB:533046;GDB:533050;GDB:533057;GDB:542970;GDB:542978;GDB:542982;GDB:547725;GDB:547728;GDB:547732;GDB:547739;GDB:547748;GDB:547753;GDB:547758;GDB:547771;RH123821;RH45092;RH98917;SHGC-146451;SHGC-147086;SHGC-79066;SHGC-8883 PWD;WC1;WD;WND ATPase, Cu(2+)- transporting, beta polypeptide;OTTHUMP00000018794;Wilson disease-associated protein;copper pump 2;copper-transporting ATPase 2 APPROVED protein-coding ENSG00000123191 HGNC:870 06050 277900;606882 REVIEWED 1344629 ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 ENCODES a protein that exhibits ATP binding (inferred); cation-transporting ATPase activity (inferred); magnesium ion binding (inferred); INVOLVED IN aging (inferred); axonogenesis (inferred); cation transmembrane transport (inferred); ASSOCIATED WITH Autosomal recessive inheritance (inferred); Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 (inferred); Cerebellar atrophy (inferred); FOUND IN Golgi apparatus; plasma membrane; INTERACTS WITH 17beta-estradiol; progesterone; silicon dioxide 13 13 13 q12 7010413 7663625 + 25946209 26599989 + 25372071 26025851 + 1580863;6480464;8699517;7240710;8554872 10551800;11015572;12477932;14702039;15057823;17621610;19778899;20379614;20683487;20889312;21454556;22797925;22892528;23568457 51761 B1ALJ8;B7Z880;F8W9B3;Q6ZSP3;Q6ZU25;Q9NTI2 ABBA01007904;ABBA01007905;ABBA01007906;ABBA01007907;ABBA01007908;ABBA01007909;ABBA01007910;ABBA01007911;AC206479;AF236871;AK022096;AK094653;AK126031;AK127263;AK302980;AK310254;AL136438;AL137256;AL138815;AL138958;AL139004;AL157366;AL356316;AL390129;AL669971;AMYH02027721;AMYH02027722;AMYH02027723;AMYH02027724;AMYH02027725;AMYH02027726;AMYH02027727;AMYH02027728;AX823716;BC144228;BC144229;BX537836;CH471075;KF455735;KF455744;NM_016529;XM_005266419;XM_006719832;XM_006719833;XM_006719834;XM_006719835;XM_006719836;XR_429216 AAF40215;AAI56472;AAI72535;BAC04396;BAC86402;BAC86905;BAH13866;CAB70658;CAB99084;CAD97848;CAE84542;EAX08372;EAX08373;EAX08374;EAX08375;EAX08376;NP_057613;Q9NTI2;XP_005266476;XP_006719895;XP_006719896;XP_006719897;XP_006719898;XP_006719899 Hs.444957 1338479;1339261;1339480;1646323;1655824;1656059;1703582;1710810;1716589;1718865;1730259;1731875;1737495;1737531;1739263;1748443;1750399;1757815;1759193;1759763;1779630;2124081;2143410;2164692;5094266;5127969;7187903 D13S1035;D13S1055;D13S1126;D13S1191;D13S1285;D13S1294;D13S182E;D13S221;D13S308;D13S809;G54675;G64210;RH121640;RH123137;SHGC-112580;SHGC-146587;SHGC-150884;SHGC-151273;SHGC-152561;SHGC-153606;SHGC-82790;SHGC-84149;STS-Z41450;WI-12595;WI-14830;WI-14969 ATP;CAMRQ4;DKFZp434B1913;IB;ML-1 ATPIB;ATPase class I type 8A member 2;ATPase, aminophospholipid transporter-like, class I, type 8A, member 2;OTTHUMP00000018151;P4-ATPase flippase complex alpha subunit ATP8A2;phospholipid-transporting ATPase IB;probable phospholipid-transporting ATPase IB APPROVED protein-coding ENSG00000132932 HGNC:13533 05795 605870;615268 VALIDATED 1344922 ATP8 mitochondrially encoded ATP synthase 8 ENCODES a protein that exhibits ATPase activity; INVOLVED IN ATP catabolic process; ASSOCIATED WITH Multiple Sclerosis; Urinary Bladder Neoplasms; Arthritis, Experimental (ortholog); FOUND IN mitochondrial proton-transporting ATP synthase complex; INTERACTS WITH atrazine; thapsigargin; tunicamycin MT MT 8366 8572 + 8366 8572 + 2302294;5490296;5490263;5490294;5490297;6480464 15254717;17619138;19759059;20450733;21167184 11607774;19066432;19758471;20082143;20936779;21890473;23840124;24153443;24440288 4509 P03928;Q9B1A3;U5YV54 J01415 AAB58947;YP_003024030 1675341;1690266;1736692;1791392;1793110;1793294;1793296;1793298;1794766;1794768;1794770;1794772;2182028 D17S813E;D1S2077E;PMC109173P1;PMC196577P3;PMC20756P1;PMC20756P2;PMC20756P3;PMC55343P3;PMC55343P4;PMC55343P5;PMC55343P6;RH98513;SHGC-57364 ATPase8;MTATP8 ATP synthase F0 subunit 8 APPROVED protein-coding HGNC:7415 516070 PROVISIONAL 1320053 ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 p13 42858235 43107011 - 42410390 42659122 - 42408373 42657105 - 631958;1580863;6480464;8554872 9548971 10198212;11015572;12477932;15071553;15342556;15919184;17229723;18519826;19946888;20379614;21890473;21914794;22610502;23269685;8619474;9110174 10396 H0Y8I6;H0YAA1;H0YAF4;H0YAJ4;Q4G1C1;Q9Y2Q0 AB013452;AB209687;ABBA01014289;ABBA01014290;ABBA01014291;AC084010;AC096734;AC110788;AC139717;AF035315;AF067820;AK027252;AMYH02009106;AMYH02009107;AMYH02009108;AMYH02009109;BC020943;BC109317;BC109318;BP232466;BX648675;CH471069;NM_001105529;NM_006095;XM_005248043;XM_006713989 AAD34706;AAH20943;AAI09318;AAI09319;AAY40924;AAY40980;BAA77248;BAD92924;EAW93003;EAW93004;NP_001098999;NP_006086;Q9Y2Q0;XP_005248100;XP_006714052 Hs.435052 1666218;1762875;1764889;1771993;2108705;2114584;2157074;2170377;2185466 ATP8A1_9102;D4S1207;D4S3277;G09524;SHGC-146639;SHGC-148448;SHGC-36481;SHGC-59604;WI-19830 ATPASEII;ATPP2;MGC130042;MGC130043;MGC26327 ATPIA;ATPase II;ATPase class I type 8A member 1;OTTHUMP00000125252;OTTHUMP00000219630;P4-ATPase flippase complex alpha subunit ATP8A1;aminophospholipid translocase;chromaffin granule ATPase II;phospholipid-transporting ATPase IA;probable phospholipid-transporting ATPase IA APPROVED protein-coding ENSG00000124406 HGNC:13531 16527 609542 REVIEWED 1352358 ATP8B5 ATPase, Class I, type 8B, member 5 11015572 57195 HGNC:13537 5128956 ATP8A2P1 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 1 10 10 10 37307813 37324335 + 37537046 37553565 + 37248118 37264637 + 100422505 ABBA01033304;AL157387;AMYH02022653;NG_025483 pseudo HGNC:39662 INFERRED 1315485 ATP8B4 ATPase, class I, type 8B, member 4 This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 15 15 15 q21.2 27043704 27304104 - 50150435 50411419 - 49858238 50119222 - 1580863;6480464;8554872 10737800;11015572;11853319;12477932;12880872;14702039;16572171;17998437;20379614;23087808 79895 H0YK53;H0YL60;H0YLC1;H0YLJ1;H0YM66;H0YMB5;H0YMP8;Q6PG43;Q8TF62 AB075819;ABBA01039119;ABBA01039120;ABBA01039121;AC009753;AC016045;AC025040;AK025125;AK123747;AK128602;AMYH02030396;BC057236;BC144297;BC144298;BE241899;BF898163;BF898268;BI258773;BX647496;CH471082;JA738691;KF456044;NM_024837;NR_073596;NR_073597;NR_073598;XM_006720693;XM_006720694;XM_006720695;XM_006720696 AAH57236;AAI66692;BAB15072;BAB85525;BAG53950;CCF76998;EAW77380;EAW77381;EAW77382;EAW77383;NP_079113;Q8TF62;XP_006720756;XP_006720757;XP_006720758;XP_006720759 Hs.511311 1714829;1716823;2136102;2169890 D15S1509;RH120409;RH121707;RH70043 FLJ25418 ATPIM;P4-ATPase flippase complex alpha subunit ATP8B4;potential phospholipid-transporting ATPase IM;probable phospholipid-transporting ATPase IM protein-coding ENSG00000104043 HGNC:13536 10681 609123 REVIEWED 1604224 ATP8B5P ATPase, class I, type 8B, member 5, pseudogene 9 9 9 p13.3 35338740 35415016 + 35406752 35483026 + 35406755 35483029 + 12477932;19657017;20210993 158381 ABBA01064993;AK310278;AL133476;AL160274;AL592145;AMYH02019458;AMYH02019459;BC031276;BC035229;BC047452;BC130448;BC130450;CH471071;NR_003581;NR_003582;NR_110320 EAW58379;EAW58380;EAW58381;EAW58382 Hs.575661 1660863;1690336;1752065;1770403;1770405 A005R04;D9S2099;G20429;RH92867;SHGC-106014 FetA APPROVED pseudo ENSG00000179766 HGNC:27245 18739 VALIDATED 1318635 ATP8B2 ATPase, aminophospholipid transporter, class I, type 8B, member 2 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 127369751 127395492 + 154298036 154323780 + 154325560 154351304 + 1580863;6480464;8554872 10574461;11015572;12477932;12880872;14702039;15071553;15489334;15919184;19913121;20628086;21890473 57198 P98198;Q6P3T1 AB032963;ABBA01049481;AI857468;AK054886;AK304806;AL137537;AL162591;AMYH02001921;AY302537;BC007837;BC030288;BC041573;BC063858;BC069264;CH471121;NM_001005855;NM_020452;XM_005245355;XM_005245356;XR_241091 AAH07837;AAH30288;AAH63858;AAH69264;AAI40442;AAQ19027;BAA86451;BAB70822;BAG65556;CAB70799;EAW53204;EAW53205;EAW53206;EAW53207;EAW53208;NP_001005855;NP_065185;P98198;XP_005245412;XP_005245413 Hs.435700 1337159;2187481;5024035;5037552 D13S116;D8S2279;DXS8011;RH69640 DKFZp434M0219;KIAA1137 ATPID;ATPase, class I, type 8B, member 2;OTTHUMP00000034193;OTTHUMP00000034317;P4-ATPase flippase complex alpha subunit ATP8B2;phospholipid-transporting ATPase ID;probable phospholipid-transporting ATPase ID APPROVED protein-coding ENSG00000143515 HGNC:13534 05794 605867 REVIEWED 1318284 ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008] 18 18 18 q21.31 52031466 52187934 - 55313658 55470327 - 57646426 57803310 - 1580863;1599397;6480464;7240710;8554872;8699517 9500542 10679031;11015572;11093741;11682026;12477932;12880872;14988830;15071553;15239083;15489334;15888793;15919184;15946126;16341674;16628629;17948906;18668687;18951430;19027009;19228886;19381753;19478059;19479804;19731236;19809379;19890347;19918981;20038848;20216097;20232290;20301474;20414253;20447715;20512993;20683201;20852622;21914794;22001757;23033845;23060447;23197899;23213138;23251605;23750872;24260417;5762004;7655458;7894490;9548971;9918928 5205 K7EQC4;K7ERI0;K7ESK2;O43520 AA234929;ABBA01056133;ABBA01056134;ABBA01056135;ABBA01056136;ABBA01056137;ABBA01056138;ABBA01056139;ABBA01056140;AC022724;AC027097;AF032442;AF038007;AI625486;AI914078;AK128536;AMYH02034794;AMYH02034795;AMYH02034796;AMYH02034797;AMYH02034798;AMYH02034799;BC003534;BG403134;BM796053;CB052296;CH471096;CV572801;DR005588;NG_007148;NM_005603;XM_006722481;XM_006722482 AAC04328;AAC63461;AAH03534;AAI72221;EAW63054;EAW63055;NP_005594;O43520;XP_006722544;XP_006722545 Hs.216623 1338440;1668482;1789016;5015404;5016851;5020946;5024413 D18S381;G36359;G65640;L17705;L17877;L17971;RH80031 BRIC;FIC1;ICP1;PFIC;PFIC1 ATPIC;ATPase, class I, type 8B, member 1;E1-E2 ATPase;OTTHUMP00000163615;P4-ATPase flippase complex alpha subunit ATP8B1;familial intrahepatic cholestasis type 1;phospholipid-transporting ATPase IC;probable phospholipid-transporting ATPase IC APPROVED protein-coding ENSG00000081923 HGNC:3706 03867 147480;211600;243300;602397 REVIEWED 735480 ATP9A ATPase, class II, type 9A ENCODES a protein that exhibits ATP binding (inferred); cation-transporting ATPase activity (inferred); magnesium ion binding (inferred); INVOLVED IN cation transmembrane transport (inferred); metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN early endosome; perinuclear region of cytoplasm; recycling endosome; INTERACTS WITH 2-methylcholine; 5-fluorouracil; benzo[a]pyrene 20 20 20 q13.2 46917463 47089610 - 50213314 50384908 - 51596775 51768369 - 1580863;6480464;8554872 11015572;11780052;12477932;14702039;18519826;20379614;21145461;21182205;21890473;23000965;9734811 10079 O75110;Q96B35 AB014511;ABBA01052804;ABBA01052805;ABBA01052806;ABBA01052807;AF086357;AK025559;AK026513;AK172802;AK299064;AL035684;AL138807;AL353799;AMYH02037259;AMYH02037260;AMYH02037261;AMYH02037262;AMYH02037263;AMYH02037264;AMYH02037265;BC016044;BC036759;BC043392;BC063701;BC110591;BC110592;CH471077;NM_006045 AAH16044;AAI10592;AAI10593;AAI67819;BAA31586;BAD18775;BAG61130;EAW75597;EAW75598;EAW75599;EAW75600;NP_006036;O75110 Hs.649234 1335601;1652485;1672111;1691680;1710078;1771383;2120211;2145714;2145716;2155488;2156506;2169984;2169986;2170971;2177860;2218278 A001W29;A005Y41;A008B25;A009A38;AL032541;ATP9A_4405;D20S185;D20S457;D20S579E;D20S620;G19718;G20606;RH12445;RH45440;RH48521;SHGC-83700 ATPIIA;KIAA0611 ATPase type IV, phospholipid-transporting (P-type),(putative);OTTHUMP00000043369;OTTHUMP00000043371;phospholipid-transporting ATPase IIA;probable phospholipid-transporting ATPase IIA protein-coding ENSG00000054793 HGNC:13540 18541 609126 VALIDATED 1313025 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18862395 18883635 - 17921334 17942483 - 18018020 18039169 - 1580863;6480464;7240710;8554872;8699517 11076863;11256614;11410595;11997338;12477932;14757859;15489334;15489336;16381901;19933271;20167577;20877624;21832049;24250222;8619474;9110174 91647 C9J2Q2;J3KTB2;K7ELC1;Q8N5M1 AA760883;ABBA01009741;ABBA01009742;AC087163;AF052185;AF070584;AI857387;AK290257;AK294487;AMYH02033102;AMYH02033103;AMYH02033104;AY203943;BC004114;BC032126;CH471196;NG_012824;NM_145691;XM_005256848 AAH04114;AAH32126;AAP34466;BAF82946;BAG57709;CAL38119;EAW55676;EAW55677;EAW55678;EAW55679;EAW55680;NP_663729;Q8N5M1;XP_005256905 Hs.528889 1775977;2114675;2170247 D17S2021;RH11962;SHGC-24341 ATP12;ATP12p;LP3663;MC5DN1;MGC29736 ATP12 homolog;OTTHUMP00000065658;OTTHUMP00000065659;OTTHUMP00000065660 APPROVED protein-coding ENSG00000171953 HGNC:18802 10599 604273;608918 REVIEWED 1353015 ATP9B ATPase, class II, type 9B ENCODES a protein that exhibits ATP binding (inferred); cation-transporting ATPase activity (inferred); magnesium ion binding (inferred); INVOLVED IN establishment of protein localization to Golgi; FOUND IN perinuclear region of cytoplasm; trans-Golgi network; INTERACTS WITH benzo[a]pyrene; bisphenol A; cocaine 18 18 18 q23 73601459 73911517 + 76829394 77138283 + 79069394 79378283 + 631958;1580863;6480464 9548971 11015572;11124703;12477932;14702039;16177791;19460752;22118674;22525042;23535732 374868 B3KSI8;B4DJ94;K7EII3;K7EJG1;K7EJP9;K7EJS3;K7EL57;K7EPH4;K7EQ39;K7EQQ5;K7ERE0;K7ES39;O43861;Q69YZ7;Q7Z3J4;Q7Z6L4 AB373110;ABBA01013884;ABBA01013885;ABBA01013886;AC023090;AC099689;AC104423;AC125437;AJ006268;AK093704;AK097757;AK127634;AK128142;AK128847;AK130499;AK130839;AK295981;AK308291;AL096735;AMYH02035053;AMYH02035054;AMYH02035055;AMYH02035056;AMYH02035057;AW411030;BC022535;BC036473;BC037546;BC053561;BC125219;BC125220;BX537860;BX648948;CH471117;NM_198531;U78978;XM_005266690;XM_005266691;XM_005266692;XM_005266693;XM_005266694;XM_005266695;XM_006722447;XM_006722448;XM_006722449;XM_006722450;XR_245458 AAC05243;AAH53561;AAI25220;AAI25221;BAC85365;BAC85443;BAC87065;BAC87644;BAG52750;BAG58756;BAM15576;CAA06934;CAD97865;CAH10731;EAW66609;EAW66610;EAW66611;EAW66612;EAW66613;EAW66614;EAW66615;EAW66616;NP_940933;O43861;XP_005266747;XP_005266748;XP_005266749;XP_005266750;XP_005266751;XP_005266752;XP_006722510;XP_006722511;XP_006722512;XP_006722513 Hs.465475 1341670;1657187;1701458;1707430;1717935;1721013;1725309;1750419;1762549;1768237;1778344;1850088;1850191;1858366;2140038;2182593;5015607;5020423;5021872;5022651;5022710;5037552;5115198;5118342 A004F30;A004V34;ATP9B;D11S1053;D11S2442;D11S2921;D11S3014;D11S3206;D18S1022;D18S1141;D18S909E;D8S2279;G59488;RH104361;RH118972;RH122794;RH45957;SHGC-112592;SHGC-146363;SHGC-84507;WI-10807;WI-11906;WI-3064;sY3084 ATPIIB;DKFZp686H2093;FLJ46612;HUSSY-20;MGC150650;MGC150651;MGC61572;NEO1L;hMMR1 ATPASEP;ATPase type IV, phospholipid transporting (P-type);OTTHUMP00000163815;macrophage MHC receptor 1;probable phospholipid-transporting ATPase IIB protein-coding ENSG00000166377 HGNC:13541 16528 614446 VALIDATED 1323150 ATRAID all-trans retinoic acid-induced differentiation factor This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009] 2 2 2 p23.3 27281225 27286373 + 27434899 27440046 + 27212031 27217178 + 6480464;8554872 10948432;11042152;12477932;12975309;15340161;15489334;15815621;16169070;17387583;17524364;18388313;21723284;21832049;23036366;23284715;8889548 51374 C9JA62;Q6UW56 AA604432;AB009017;ABBA01045199;AC013403;AF077037;AF144055;AF275744;AK291894;AMYH02003473;AW966996;AY358968;BC002846;BC011006;BC021237;BC035850;BI194121;BQ420456;BQ718371;BQ962996;CA450289;CD513162;CF126865;CH471053;NM_001170795;NM_016085;NM_080592 AAD27770;AAD31317;AAH02846;AAH11006;AAH21237;AAH35850;AAK69412;AAQ89327;AAX93173;BAF80618;BAF84583;EAX00615;EAX00616;EAX00617;EAX00618;EAX00619;NP_001164266;NP_057169;NP_542159;Q6UW56 Hs.9527 1712186;2181945 G54144;RH70745 APR--3;APR-3;APR3;C2orf28;HSPC013;PRO240;p18 OTTHUMP00000158506;OTTHUMP00000201023;OTTHUMP00000201024;apoptosis related protein 3;apoptosis related protein APR-3;apoptosis-related protein 3 APPROVED protein-coding ENSG00000138085 HGNC:24090 16652 REVIEWED 1312589 ATPIF1 ATPase inhibitory factor 1 This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p35.3 26958253 26960253 + 28562602 28564616 + 28236091 28238105 + 1580863;6480464 10664857;11742976;12110673;12477932;14702039;15342556;15489334;15528193;15635413;15809073;16169070;16344560;16713569;16806233;17851741;18029348;18624398;19559621;20374090;20379614;20538613;20877624;21900206;22342343;23135403;23348567;23722655;23794714;24005319;24255178;24521670;24816145 93974 Q9UII2 AB029042;ABBA01035017;AF114836;AK000934;AK316600;AL050386;AL353622;AL583540;AMYH02000621;AY005470;BC004955;BC009677;BC017562;BG036978;BG337531;BG714388;BP271519;BT009849;CH471059;CR457097;DB030607;NM_016311;NM_178190;NM_178191 AAF97495;AAH04955;AAH09677;AAP88851;AAP97235;ACE86960;ACE87650;BAA88422;BAG38187;CAG33378;CAI46227;EAX07704;EAX07705;EAX07706;NP_057395;NP_835497;NP_835498;Q9UII2 Hs.744914 1779562;2117475 D1S3569;SHGC-153535 ATPI;IF(1);IF1;IP;MGC1167;MGC8898 ATP synthase inhibitor protein;ATPIP;ATPase inhibitor protein;ATPase inhibitor, mitochondrial;OTTHUMP00000003642;OTTHUMP00000234891;OTTHUMP00000234894;inhibitor of F(1)F(o)-ATPase APPROVED protein-coding ENSG00000130770 HGNC:871 16529 614981 REVIEWED 1316924 ATP8B3 ATPase, aminophospholipid transporter, class I, type 8B, member 3 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 19 19 19 p13.3 1716184 1746354 - 1782074 1812275 - 1782075 1812276 - 1580863;6480464;8554872 11015572;12477932;12880872;14702039;16344560;19416921;21890473;21906983;21963094;23251661 148229 F5GZM8;F5H3R9;H0YFS1;H0YH38;K7EJ52;O60423 ABBA01002684;ABBA01002685;ABBA01002686;ABBA01002687;AC004755;AC012615;AK057452;AK058189;AK125225;AK125969;AMYH02035164;AMYH02035165;AMYH02035166;AMYH02035167;AW444739;AY302538;BC033179;BC035162;BU542181;BX427831;CD365734;CH471139;DA111464;DB453086;KF456466;KF459576;NM_001178002;NM_138813;NR_047593;XM_006722654;XM_006722655;XM_006722656;XM_006722657 AAC17601;AAH35162;AAQ19028;BAB71492;BAB71708;BAC86088;EAW69454;EAW69455;EAW69456;EAW69457;EAW69458;EAW69459;EAW69460;EAW69461;EAW69462;EAW69463;NP_001171473;NP_620168;O60423;XP_006722717;XP_006722718;XP_006722719;XP_006722720 Hs.306212 1697272;5015879;5016478 GDB:314949;GDB:434012;RH102133 ATPIK;ATPase, class I, type 8B, member 3;OTTHUMP00000232124;OTTHUMP00000232125;aminophospholipid translocase ATP8B3;phospholipid-transporting ATPase IK;potential phospholipid-transporting ATPase IK;probable phospholipid-transporting ATPase IK APPROVED protein-coding ENSG00000130270 HGNC:13535 05793 605866 REVIEWED 1313436 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011] 1 1 1 p33-p32.3 45385744 45421450 - 47100711 47134099 - 46635039 46668427 - 6480464 11410595;12206899;12477932;12965202;15789402;16344560;20379614;20579638;20877624;21139048;21696813 64756 A8MRA7;E9PPX6;H0YCA6;H0YD21;H0YDD6;H0YEW4;I3L1W9;I3L448;Q5TC12 ABBA01050836;AF111705;AI188403;AJ710373;AK026004;AK296360;AK301874;AK302090;AK310338;AK311271;AL136373;AL593856;AMYH02000961;BC008498;BC018781;BC071731;BX438342;CH471059;DA244814;DB448244;DB483450;NM_001042546;NM_001243728;NM_001256418;NM_022745 AAH08498;AAH18781;AAH71731;AAM12421;ACE86499;ACE87180;BAB15316;BAH12330;BAH13572;BAH13622;EAX06896;EAX06897;NP_001036011;NP_001230657;NP_001243347;NP_073582;Q5TC12 Hs.100874 1644220;1644222;1849448;2170811 A005B23;D1S3533;G20246;G34811 ATP11;ATP11p;FLJ22351;FLJ55378;FLJ60653;MGC88060 ATP11 homolog;OTTHUMP00000009681;OTTHUMP00000231564;OTTHUMP00000231566;OTTHUMP00000231567;OTTHUMP00000231568;homolog of yeast ATP11 APPROVED protein-coding ENSG00000123472 HGNC:18803 12332 608917 REVIEWED 1314047 ATR ATR serine/threonine kinase The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008] 3 3 3 q23 140574471 140721117 - 142168077 142297668 - 142449235 142578826 - 1580863;1599404;2317234;6480464;6484113;6907045;7240710;8554872;8699517 12640452;18381943 10435622;10545197;10597277;10608806;10673501;10747897;10749680;10859164;10889046;10951572;10973490;11016625;11114888;11163154;11252893;11278964;11390642;11393670;11418864;11459832;11470508;11551930;11673449;11688760;11709713;11715017;11721054;11790298;11799063;11865061;11883897;11927575;12011431;12024051;12147700;12446774;12493754;12519769;12526805;12629512;12679521;12738771;12766152;12773400;12791699;12791985;12814551;12915485;12959929;14657349;14724280;14729972;14729973;14742437;14755251;14871897;14988723;15050919;15149599;15159397;15195100;15210935;15235112;15279777;15282542;15302935;15314022;15374968;15451423;15456891;15466211;15485898;15496423;15527801;15533933;15538388;15539948;15616588;15635413;15640246;15650165;15650754;15680327;15707391;15734998;15743907;15758953;15775976;15854902;15933716;15987455;16009130;16051665;16086026;16122425;16122426;16195237;16260606;16293623;16306615;16354571;16431910;16436511;16461339;16474843;16488880;16530042;16540648;16675950;16705183;16713580;16738325;16741947;16757521;16827800;16872911;16880517;16909103;16943440;16951182;16956949;16968694;17010193;17015476;17030982;17035231;17118963;17124492;17140287;17148452;17157788;17210576;17260016;17272271;17292679;17376433;17384638;17384681;17409144;17478428;17526493;17616578;17616665;17620599;17638878;17686975;17716975;17879369;17934520;17976513;18003706;18025301;18032786;18160036;18162465;18202016;18245444;18283122;18344416;18357388;18434539;18451105;18451257;18480045;18495871;18514189;18519640;18536714;18550533;18583959;18625709;18642075;18664457;18757420;18931676;18936170;18950845;18985806;18995830;19004803;19064565;19064572;19074885;19097996;19109555;19116388;19119425;19124506;19146767;19154794;19197236;19242509;19244116;19275579;19275588;19285939;19330022;19351817;19372558;19444312;19470935;19477925;19527713;19536649;19570909;19584262;19586908;19633697;19690177;19714462;19798433;19805520;19828454;19889979;19903823;20005840;20008788;20012529;20029092;20048340;20060399;20084458;20103595;20147462;20233725;20301772;20347598;20368801;20424596;20427275;20427287;20453000;20469721;20496165;20513533;20515729;20566845;20616048;20634891;20731661;20798688;20801936;20810650;20818375;20847938;20861269;20930849;21034966;21139048;21144835;21224401;21242293;21270107;21284603;21285353;21294646;21308861;21383502;21502314;21566061;21659603;21680529;21705319;21857991;21859891;21874023;21890473;21906983;21908846;21963094;21976111;21994772;21995812;21998596;22053931;22084169;22123827;22159421;22174788;22179839;22184063;22341969;22435685;22505724;22535492;22556425;22621920;22713662;22735644;22740051;22797063;22807682;22842784;22939629;22948311;22952448;23000965;23029527;23085754;23135710;23144622;23176708;23178497;23202519;23255133;23272087;23284306;23345434;23401567;23422745;23438602;23447674;23447702;23451157;23454212;23548269;23592782;23592994;23600770;23684611;23696651;23698467;23733185;23807228;23844225;23861882;23873943;23874235;23897887;23901102;23956138;24005565;24045107;24098119;24158819;24238855;24267891;24327542;24332808;24634213;24639502;24662920;24700029;24726882;24799566;24950377;24971543;8610130;8843195;8978690;9427750;9590286;9636169;9733515;9765199;9766667;9857181;9925639 545 D6RFJ6;D6RIG7;H0Y8R8;H0Y8Y6;H0Y9K2;Q13535 A61385;AB208847;ABBA01059023;ABBA01059024;AC109992;AC134509;AF325699;AK307402;AMYH02007818;AMYH02007819;AMYH02007820;AMYH02007821;BE859077;CH471052;DC346860;NG_008951;NM_001184;U49844;U76308;XR_241498;Y09077 AAC50405;AAC50929;AAI72404;AAK26749;BAD92084;CAA03590;CAA70298;EAW78969;EAW78970;NP_001175;Q13535 Hs.271791 1334531;1335767;1341516;1656842;1784772;1789150;2115980;2145597;2150987;7187906 A008V33;D3S1316;D3S3694;D3S3710;G65709;GDB:4585095;SHGC-154915;SHGC-33010;STS-U76308 FCTCS;FRP1;MEC1;SCKL;SCKL1 FRAP-related protein 1;FRAP-related protein-1;MEC1, mitosis entry checkpoint 1, homolog;OTTHUMP00000214450;Rad3 related protein;ataxia telangiectasia and Rad3 related;ataxia telangiectasia and Rad3-related protein;protein kinase ATR;serine/threonine-protein kinase ATR APPROVED protein-coding ENSG00000175054 HGNC:882 08369 210600;230740;601215;602089;614564 REVIEWED 1605736 ATRX alpha thalassemia/mental retardation syndrome X-linked The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013] X X X q21.1 77001253 77282613 - 76760356 77041755 - 77504878 77786269 - 6480464;7240710;9586032;9586028;8554872;9586027;8699517;9586029;9586033;9586030;9586026 23892236;24148618;24289169;24327140;24468746;24805811;24810474 10204841;10398237;10417298;10570185;10660327;10699177;10737800;10742099;10751095;10851248;10995512;11050622;11823444;12116232;12205100;12477932;12777533;12858175;12953102;1415255;14592816;14645126;14690447;14990586;15231748;15252119;15302935;15350606;15466868;15508018;15591283;15635413;15772651;15840729;15882967;15964851;1605216;16169070;16266892;16344560;16376512;16480427;16537041;16712791;1684092;17081983;17118963;17296936;17353931;17579672;17609377;17957225;18227278;18409179;18922870;19017809;19064565;19088125;19129197;19394292;19444003;19471022;19671661;19764021;19919584;20110566;20147399;20159591;20301622;20309963;20504901;20651253;21029860;21056573;21139048;21209221;21252315;21252943;21267006;21310198;21421568;21501635;21505078;21666677;21666679;21693764;21719641;21851155;21885354;21890473;21906983;21986699;22021382;22089611;22102817;22129561;22240898;22356911;22391447;22416102;22575867;22583365;22787211;22829774;22869205;22886134;22976303;23104868;23135716;23185534;23222847;23329831;23361940;23391111;23453691;23681356;23765250;23801766;23904111;23954140;24130152;24530302;24559763;25027693;3177467;3658675;7697714;7874112;8001970;8162050;8242062;8503439;8630485;8889548;8968741;9043863;9244431;9321665;9326931;9499421 546 A4LAA3;B4DLW1;H0Y3T0;P46100;Q5H9A3 AA484729;AA732359;AB101681;AB101682;AB101683;AB101684;AB101685;AB101686;AB101687;AB101688;AB101689;AB101690;AB101691;AB101692;AB101693;AB101694;AB101695;AB101696;AB101697;AB101698;AB101699;AB101700;AB102641;AB208928;AB209545;ABBA01029609;ABBA01029610;ABBA01029611;ABBA01029612;ABBA01029613;ABBA01029614;ABBA01029615;ABBA01029616;ABBA01029617;ABBA01029618;ABBA01029619;ABBA01029620;ABBA01029621;ABBA01029622;ABBA01029623;ABBA01029624;ABBA01029625;ABBA01029626;ABBA01029627;ABBA01029628;ABBA01029629;ABBA01029630;ABBA01029631;ABBA01029632;ABBA01029633;ABBA01029634;ABBA01029635;ABBA01029636;ABBA01029637;ABBA01029638;ABBA01029639;ABBA01029640;ABBA01029641;ABBA01029642;ABBA01029643;ABBA01029644;ABBA01029645;ABBA01029646;ABBA01029647;ABBA01029648;ABBA01029649;AC233293;AC233305;AI733378;AK293241;AK295107;AK296959;AK297183;AK307791;AK308419;AL109753;AL121874;AL138743;AMYH02039810;AMYH02039811;AMYH02039812;AMYH02039813;AMYH02039814;AMYH02039815;AMYH02039816;AMYH02039817;BC002521;BE927791;BM714186;BQ189245;BT007188;BX647222;CB114986;CH471104;DA759777;DA791316;DR422800;EF467914;L33812;L34363;NG_008838;NM_000489;NM_138270;U09820;U72935;U72936;U72937;U72938;U75653;U97103;X83753;XM_005262153;XM_005262154;XM_005262155;XM_005262156;XM_005262157;XM_006724666;XM_006724667;XM_006724668;Z84487 AAA20872;AAB40698;AAB40699;AAB40700;AAB49969;AAB49970;AAB49971;AAC50069;AAC51655;AAC51657;AAH02521;AAI56297;AAP35852;ABO43036;BAC80270;BAC80271;BAC80272;BAC80273;BAC80274;BAC80275;BAC80276;BAC80277;BAC80278;BAC80279;BAC80280;BAC80281;BAC80282;BAC80283;BAC80284;BAC80285;BAC80286;BAC80287;BAC80288;BAC80289;BAC81110;BAD92165;BAD92782;BAG58140;BAG59503;BAG59673;BAH11474;CAA58711;CAB90351;CAI40710;CAI42674;CAI42675;CAI42677;CAI43115;CAI43116;CAI43117;EAW98611;EAW98612;EAW98613;EAW98614;EAW98615;NP_000480;NP_612114;P46100;XP_005262210;XP_005262211;XP_005262212;XP_005262213;XP_005262214;XP_006724729;XP_006724730;XP_006724731 Hs.533526;Hs.653797 1663208;1666138;1700090;1702244;1702820;1703118;1745193;1745199;1745207;1745213;1745215;1745219;1745223;1745231;1745233;1745239;1745241;1745243;1745245;1745247;1745249;1745253;1745255;1745257;1745259;1745263;1750095;1778907;1795408;2187294;2189463;5016534;5117684;5121815;7184775;7184776 ATRX_1237;DXS56;DXS6980E;DXS9779;GDB:596193;GDB:596198;GDB:596204;GDB:596209;GDB:596212;GDB:596216;GDB:596219;GDB:596225;GDB:596231;GDB:596234;GDB:596239;GDB:596244;GDB:596250;GDB:596255;GDB:596258;GDB:596262;GDB:596276;GDB:596281;GDB:596286;GDB:596290;GDB:596303;GDB:596309;MARC_6759-6760:992007400:1;RH103658;RH47714;SHGC-112339;SHGC-6680;STS-U72937;UniSTS:99785;WI-21664 ATR2;JMS;MGC2094;MRXHF1;RAD54;RAD54L;SFM1;SHS;XH2;XNP;ZNF-HX ATP-dependent helicase ATRX;DNA dependent ATPase and helicase;Juberg-Marsidi syndrome;OTTHUMP00000024265;OTTHUMP00000024266;RAD54 homolog;X-linked helicase II;X-linked nuclear protein;Zinc finger helicase;alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae);helicase 2, X-linked;transcriptional regulator ATRX APPROVED protein-coding ENSG00000085224 HGNC:886 02069 300032;300448;301040;309580 REVIEWED 1607060 ATRNL1 attractin-like 1 ENCODES a protein that exhibits carbohydrate binding (inferred); receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); multicellular organismal development (inferred); PARTICIPATES IN melanocortin system pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 10 10 10 q26 110582194 111437829 + 116853124 117708496 + 115093365 115948985 + 5144214;6480464;8554872 20654690 12477932;14531729;16385451;18821597;20379614;21130836;9628581 26033 B4DH41;E9PL90;H0YDQ9;Q4G0Y2;Q5VV63;R4GMZ1 AB011106;ABBA01062965;ABBA01062966;ABBA01062967;ABBA01062968;ABBA01062969;AC016042;AC022542;AC091667;AK127277;AK294917;AK299592;AL355530;AL356100;AL357059;AL392087;AL512304;AMYH02023859;AMYH02023860;AMYH02023861;AMYH02023862;AMYH02023863;AMYH02023864;AMYH02023865;AW190029;AY442317;BC029592;BC035157;BC046219;BC047716;BC139916;BC139923;BX500409;CH471066;KF455279;KF455280;KF510329;NM_001276282;NM_207303;NR_074088 AAH35157;AAH47716;AAI39917;AAI39924;AAI68382;AAR14297;BAA25460;BAC86914;BAG58002;BAG61524;EAW49459;EAW49460;EAW49461;NP_001263211;NP_997186;Q5VV63 Hs.501127 1338508;1665313;1670413;1680549;1703482;1706664;1782224;2121729;2132946;2134143;2135289;2135888;2171179;2178662;5019677 164ZG11;A008Q18;A009D06;D10S1254;D10S468;G17535;G32438;RH44336;RH46537;RH77766;RH80415;SHGC-82598;SHGC-82820;SHGC-84428;STS-Z40891 ALP;FLJ45344;KIAA0534;bA338L11.1;bA454H24.1 OTTHUMP00000020555;attractin-like protein 1 protein-coding ENSG00000107518 HGNC:29063 12504 612869 VALIDATED 1625848 ATRIP ATR interacting protein This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012] 3 3 3 p21.31 48438989 48457913 + 48488114 48509044 + 48446710 48465655 + 6480464 11181995;11278605;11721054;12477932;12791985;14657349;14702039;14724280;14729973;15210935;15371427;15451423;15489334;15527801;15707391;15743907;15758953;15798197;16027118;16176973;16186122;16189514;16407120;16530042;16713580;16959771;17171639;17203973;17327276;17339343;17384638;17616665;17638878;17686975;18162465;18283122;18344416;18480432;18519640;18583959;18950845;18995830;19097996;19471022;19889979;19913121;20048340;20301772;20616048;20628086;20834067;20847938;20861269;20930849;21285353;21615334;21775519;21777809;21859891;22210626;22258451;23144622;23345434;23454212;24073851;24332808;24990965 84126 C9IZM8;F8WE08;F8WEI5;Q8WXE1 ABBA01024647;ABBA01024648;ABBA01024649;ABBA01024650;AC104448;AC134772;AF451323;AK022405;AK291568;AK291829;AK300548;AK315075;AL832917;AMYH02006717;AMYH02006718;BC014153;BC020563;BC030597;CB960784;CH471055;DC402185;NM_001271022;NM_001271023;NM_032166;NM_130384 AAH14153;AAH20563;AAH30597;AAL38042;ABM83164;ABM86364;BAB14029;BAF84257;BAF84518;BAG37544;BAG62254;CAH10621;EAW64875;EAW64876;EAW64877;EAW64878;EAW64879;EAW64880;EAW64881;EAW64882;NP_001257951;NP_001257952;NP_115542;NP_569055;Q8WXE1 Hs.694840 1848310;2135800 STS-Z41083;WI-21042 DKFZp762J2115;FLJ12343;MGC20625;MGC21482;MGC26740 ATM and Rad3-related-interacting protein;ATR-interacting protein;OTTHUMP00000164811;OTTHUMP00000164812;OTTHUMP00000210129 APPROVED protein-coding ENSG00000164053 HGNC:33499 606605 REVIEWED 1626546 ATXN1L ataxin 1-like ENCODES a protein that exhibits DNA binding (inferred); RNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cell projection (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; formaldehyde; 3,4-methylenedioxymethamphetamine (ortholog) 16 16 16 q22.2 56193822 56233096 + 71879894 71891236 + 71845991 71857333 + 6480464 10737800;11181995;12477932;16121196;16344560;16713569;17322884;21475249;21697133 342371 P0C7T5 AB621810;ABBA01016789;AC009127;AC010653;AI720164;AK025113;AK025339;AL833385;AMYH02032328;BC042985;BX537575;BX537596;CH471166;DB097328;NM_001137675 BAK64146;EAW59221;NP_001131147;P0C7T5 Hs.743239 1670974;1673239;1676990;1748411 D16S2943;D8Ertd587e;NIB1158;RH15633 BOAT;BOAT1;DKFZp667N0214;DKFZp686D05115;DKFZp686O1195;FLJ21460;FLJ21686 ataxin-1-like;brother of ATXN1;brother of ataxin 1;brother of ataxin-1 protein-coding ENSG00000224470 HGNC:33279 614301 VALIDATED 69117 ATRN attractin Multiple transcript variants encoding different isoforms exist for this gene. One of the isoforms is a membrane-bound protein with sequence similarity to the mouse mahogany protein, a receptor involved in controlling obesity. The other two isoforms are secreted proteins involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines. [provided by RefSeq, May 2011] 20 20 20 p13 3513657 3693655 + 3451665 3631769 + 3471018 3651122 + 734623;1580863;1299186;5144214;6480464;8554872 10086355;12379762;20654690 10086356;10811918;11780052;12477932;12665801;12675230;1476071;14760718;15231747;15489334;16335952;16344560;16502470;16835316;17261078;18624398;19056867;19320733;19384953;19535787;20198559;20379614;21139048;21890473;21963094;22268729;24250222;8596018;9628581;9736737 8455 B4DZ36;O75882 AA771958;AB011120;ABBA01053824;ABBA01053825;ABBA01053826;AF106861;AF218889;AF218910;AF218915;AK000356;AK293010;AK302730;AL109805;AL132773;AL353193;AMYH02036598;AMYH02036599;BC009724;BC101705;BE326239;CH471133;DA368237;DB240822;EC440053;NG_029406;NM_001207047;NM_139321;NM_139322;XM_005260860;XM_005260861 AAD03057;AAF72881;AAF72882;AAH09724;AAI01706;BAA25474;BAF85699;BAG63948;EAX10530;EAX10531;EAX10532;NP_001193976;NP_647537;NP_647538;O75882;XP_005260917;XP_005260918 Hs.276252 1336081;1651420;1670726;1734192;1793008;2122794;2177750;2177752;2178840;2183768;2184786 A005O05;D20S1122;D20S473;D20S516E;D20S813;D20S828;G18070;G20370;PMC18552P1;RH11545;Z94714 DPPT-L;KIAA0548;MGC126754;MGCA OTTHUMP00000030102;OTTHUMP00000030103;attractin-2;mahogany homolog;mahogany protein APPROVED protein-coding ENSG00000088812 HGNC:885 04388 603130 REVIEWED 1344585 ATXN1 ataxin 1 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010] 6 6 6 p23 17537162 17999561 - 16299343 16761721 - 16299112 16761490 - 1580863;6480464;7240710;8554872 10713882;11001934;11121205;11136710;11781699;11804332;11807410;11973625;12062018;12093161;12360291;12411613;12477932;12659632;12741986;12757707;12757932;14574404;14583607;14756671;14985428;15016912;15148151;15167689;15292212;15300851;15342556;15615787;15750336;1582256;15824120;15878393;16121196;16311891;16380905;16389595;16497448;16614004;16713569;16831871;16967484;17110330;17127076;17190598;17442486;17557114;17646162;17925862;18029348;18160752;18166084;18182848;18216249;18231590;18337722;18439907;18519031;19049837;19208651;19235102;19259763;19451621;19500214;19597981;20018885;20069235;20097758;20132795;20220018;20301317;20301363;20308783;20379614;20477910;20936779;21302343;21315774;21475249;21835928;22330095;22491195;22511762;22666429;22780124;22916034;23197749;23275563;23294540;23333304;23377640;23528090;23536093;23634774;23652004;23719381;23760502;24032423;24155902;24324551;24326307;24858692;24882209;7647801;7951322;8358429;8619528;8634720;8872471;9097953;9353120;9353121 6310 P54253;Q96FF1 AA774255;ABBA01022186;ABBA01022187;ABBA01022188;ABBA01022189;ABBA01022190;ABBA01022191;ABBA01022192;AC002112;AC002326;AK311274;AL009031;AL031120;AL034375;AL137003;AMYH02013179;AMYH02013180;AMYH02013181;AMYH02013182;AMYH02013183;AMYH02013184;AMYH02013185;AMYH02013186;BC010948;BC011026;BC014548;BC029401;BC039236;BC047894;BC063120;BC092446;BC113082;BC117125;BF666802;BF670717;BP365416;BX505133;CH471087;JX901140;N52856;NG_011571;NM_000332;NM_001128164;S82497;X79204 AAD14401;AAH11026;AAH14548;AAI17126;ADR83271;AGA61747;CAA55793;EAW55370;EAW55371;EAW55372;EAW55373;EAW55374;NP_000323;NP_001121636;P54253 Hs.434961 1336273;1337609;1650871;1658670;1658770;1659587;1668120;1682762;1707200;1725299;1726011;1730193;1739085;1742931;1742933;1745907;1762927;1791390;1796718;1851823;2122064;2122500;2128195;2132451;2149528;2153443;2186910;7186202;7186482 1216;D6S1354;D6S1461;D6S2131;D6S274;D6S288;D6S324E;G15977;G62333;GDB:216047;GDB:216054;GDB:681830;PMC109045P1;RH118967;RH35931;RH46829;RH71007;SCA1_796;SGC30752;SHGC-146680;SHGC-33945;SHGC-79186;STS-AA010260;STS-X79204;WI-16958;WI-19222;WI-9349 ATX1;D6S504E;SCA1 OTTHUMP00000016065;alternative ataxin1;ataxin-1;spinocerebellar ataxia type 1 protein APPROVED protein-coding ENSG00000124788 HGNC:10548 03333 164400;601556 REVIEWED 1351525 ATXN10 ataxin 10 This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] 22 22 22 q13.31 29980308 30153770 + 46067678 46241187 + 45671798 45845307 + 724628;1599410;1599412;1580863;6480464;7240710;8699517;8554872 11017075;16714295;9973298 10591208;11230166;11256614;11891842;12235814;12477932;14702039;15127363;15148151;15201271;15461802;15489334;16344560;16385455;16498633;17353931;17846122;18386626;18781797;19147916;19171184;19234597;19259763;19835171;19936807;19946888;20301317;20301354;20379614;20548952;20639865;21139048;21145461;21565611;21827910;21857149;21890473;21906983;21963094;21987572;22053931;22190034;22797925;22863883;23000965;23026538;23181366;23383273;23956138;24318420;24654937;24816145;25015289;8421960;9818872 25814 B1AHE3;B1AHE4;H0Y7N2;Q9UBB4 ABBA01007140;AF086923;AF119662;AK025734;AK095309;AK294348;AL050282;AL137374;AMYH02038524;AMYH02038525;AMYH02038526;BC007508;BI597255;CH471138;CR456568;CR457381;DB035174;DB548216;KF457497;KF457500;NG_016212;NM_001167621;NM_013236;R43701;Z84478;Z93784;Z95331 AAF17219;AAH07508;AAP97153;ABM84166;ABM87569;BAG57616;CAB43383;CAB70715;CAG30454;CAG33662;EAW73392;EAW73393;NP_001161093;NP_037368;Q9UBB4 Hs.475125 1335217;1336946;1646750;1650698;1651367;1651483;1652458;1653734;1655249;1691332;1696960;1711358;1789576;1789578;1789580;1854463;2109075;2140649;2159126;2167125;2181947;5021941;5092970 A009D15;AL008655;AL021662;AL021671;AL022539;AL022558;ATXN10_9416;D22S1161;D22S1202;D22S928;D22S995E;G32443;G64327;G64328;G64329;RH101952;RH45963;RH66155;RH66330;RH80881;SCA10_SNP1;SHGC-82364;WI-11674 E46L;FLJ37990;SCA10 HUMEEP;OTTHUMP00000197383;ataxin-10;brain protein E46 homolog;spinocerebellar ataxia type 10 protein APPROVED protein-coding ENSG00000130638 HGNC:10549 04624 603516;611150 REVIEWED 1347160 ATXN2 ataxin 2 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010] 12 12 12 q24.1 111516452 111663853 - 111890018 112037480 - 111452214 111599676 - 1580863;6480464;7240710;8554872 10713882;10814712;10973246;11311558;11471052;11689490;11804332;11872620;12107410;12477932;12524342;12545161;12671950;12812977;12940846;14534423;14702039;14756671;15124760;15148151;15265035;15300851;15533937;15663938;15826995;16009940;16078202;16115810;16169070;16205789;16389595;16687213;16713569;16835262;17000644;17097639;17149720;17353931;17392519;17440947;17712857;17715286;17850638;17923635;18029348;18160752;18166084;18182848;18265007;18311140;18602463;18781797;18854154;19049837;19235102;19259763;19401771;19430479;19430483;19531213;19542561;19676102;19862010;19946888;20016785;20069235;20181956;20190752;20301317;20301452;20383146;20467438;20542020;20647273;20740007;20926453;21045733;21060863;21139048;21145461;21292779;21334959;21383967;21479228;21482525;21537950;21562247;21610160;21646631;21670397;21741123;21880993;21889984;21906983;21909110;22035589;22037902;22425256;22491195;22493691;22561518;22666429;22758789;22764223;22868089;22914732;22916186;22939629;22990118;23048034;23172909;23197749;23209657;23222517;23263486;23417110;23635656;23813298;23844121;23936447;24026423;24085347;24457600;24515614;24550385;24654937;24657153;24778252;24816145;8358438;8896555;8896556;8896557;9225980;9480749;9575182;9989626 6311 F8VQP2;F8VRK6;F8VVY6;F8VZC1;F8W0B5;F8WB05;F8WB06;H0YH87;Q24JQ7;Q99700;S4R3J6;S4R3R6;V9GY86 AA731027;ABBA01019890;ABBA01019891;ABBA01019892;ABBA01019893;ABBA01019894;ABBA01019895;ABBA01019896;ABBA01019897;ABBA01019898;AC002395;AC137055;AI083696;AK128613;AK307803;AL042619;AMYH02027205;AMYH02027206;AMYH02027207;AMYH02027208;AMYH02027209;BC111757;BC114546;BF448025;CA389718;CH471054;KF455720;NG_011572;NM_002973;U70323;U80749;Y08262 AAB19200;AAI11758;AAI14547;BAC87528;CAA69589;EAW97957;EAW97958;EAW97959;EAW97960;NP_002964;Q99700 Hs.76253 1336988;1695288;1739389;1745921;1750945;1753005;2116061;2119986;2124432;2141199;2172754;2189349;2191333 D12S1390E;D12S1672;D12S1959;G64274;MARC_17487-17488:1030377680:1;MARC_2373-2374:991932707:1;RH70110;SGC44303;SHGC-104734;SHGC-63004;SHGC-68495;STS-N24020;STS-Y08262 ASL13;ATX2;FLJ46772;SCA2;TNRC13 OTTHUMP00000164680;OTTHUMP00000164681;OTTHUMP00000241635;OTTHUMP00000241637;OTTHUMP00000241638;ataxin-2;spinocerebellar ataxia type 2 protein;trinucleotide repeat containing 13;trinucleotide repeat-containing gene 13 protein APPROVED protein-coding ENSG00000204842 HGNC:10555 03307 183090;601517 REVIEWED 1349210 ATXN7L1 ataxin 7-like 1 q22.1 10574462;12421765;12477932;14702039;15115762 57485 C9IZF2;C9K0V9;F8WDE7;H0Y8A2;Q8N7W9;Q9BTQ8;Q9ULK2 AB033044;AK097574;BC003517;BC055009 AAH03517;BAA86532;BAC05107;Q8N7W9;Q9ULK2 Hs.489603 1659549;1666912;1694658;1714759;1721719;1727265;1849103;2123885;2127299;2137720;2147167;2184517;2186107;2191069;5107778 A008Q40;D7S1605;D7S1670;D7S1783;D7S1993;D7S2302;G43507;G59724;G63038;GDB:4585457;GDB:4585481;L17801;MARC_13945-13946:1007583817:1;RH120045;WI-12698 KIAA1218 protein-coding HGNC:22210 1350255 ATXN7 ataxin 7 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 3 3 3 p21.1-p12 63866997 64005909 + 63849785 63989240 + 63864557 64003462 + 1580863;6480464;7240710;8699517 10441328;10598805;10713882;11371513;11580893;11697524;11709544;11734547;11804332;12070661;12533095;12944423;14702039;15115762;15148151;15302935;15316811;15342556;15932940;15936949;16325416;16389595;16494529;16713569;16962040;17026624;17254003;17375202;17720198;18029348;18182848;18206972;18206973;18216249;18325672;19172503;19235102;19259763;19789634;19843541;19909779;19955365;20069235;20301317;20301433;20600911;20634802;20732423;20739808;21078624;21746879;21827908;22072678;22100762;22367614;22827889;22917585;23100044;23226359;23236151;23652004;23828024;23892081;24129567;24374739;7647798;7829101;9288099;9425224 6314 F6U365;H0YAT6;O15265;Q9UPD8 AA398030;ABBA01024312;ABBA01024313;ABBA01024314;AC012557;AC104162;AF020276;AF032102;AF032103;AF032104;AF032105;AF332956;AJ000517;AK125125;AK304062;AK310745;AL134602;AMYH02006950;AMYH02006951;BI494079;BP220889;CH471055;NG_008227;NM_000333;NM_001128149;NM_001177387 AAB87863;AAC19162;AAC19163;AAC19164;AAC39765;AAI66666;AAL79807;BAG64969;CAA04154;EAW65422;EAW65423;NP_000324;NP_001121621;NP_001170858;O15265 Hs.476595 1654372;1672783;1760029;1768371;2106957;2144331;2163158;2163250;2185836 A007I19;ATXN7_7871;D3S2349;G16540;SGC30565;SGC35083;SHGC-77026;SHGC-77032;SHGC-82827 ADCAII;FLJ17787;OPCA3;SCA7 OTTHUMP00000213403;OTTHUMP00000213405;OTTHUMP00000227997;ataxin-7;spinocerebellar ataxia type 7 protein APPROVED protein-coding ENSG00000163635 HGNC:10560 06365 164500;607640 REVIEWED 1345348 ATXN7L1 ataxin 7-like 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 7 7 7 q22.3 100050314 100322052 - 105244932 105517046 - 105604381 105876600 - 6480464;8554872 10574462;12421765;12477932;12690205;14702039;15115762;15342556;15489334;17207965;22881374;23064961;23251661 222255 Q9ULK2 AB033044;ABBA01057936;ABBA01057937;ABBA01057938;ABBA01057939;ABBA01057940;ABBA01057941;ABBA01057942;ABBA01057943;AC005099;AC007030;AC073073;AK095475;AK097574;AK300338;AK302013;AMYH02016484;AMYH02016485;AMYH02016486;AMYH02016487;AMYH02016488;BC003517;BC030616;BC055009;BP339600;BQ431139;CH236947;CH471070;KF458526;KF510963;NM_020725;NM_138495;NM_152749;XM_005250219;XM_005250220;XM_005250221;XM_006715900;XM_006715901;XM_006715902;XM_006715903;XM_006715904;XR_242226 AAH03517;AAH30616;ADQ31760;BAA86532;BAC05107;BAG53065;BAG62083;BAG63415;EAL24404;EAL24405;EAW83370;EAW83371;EAW83372;EAW83373;EAW83374;NP_065776;NP_612504;NP_689962;Q9ULK2;XP_005250276;XP_005250277;XP_005250278;XP_006715963;XP_006715964;XP_006715965;XP_006715966;XP_006715967 Hs.745056 ATXN7L4;MGC33190 ataxin 7-like 4;ataxin-7-like protein 1;ataxin-7-like protein 4 APPROVED protein-coding ENSG00000146776 HGNC:22210 12508 VALIDATED 1606478 ATXN3L ataxin 3-like This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011] X X X p22.2 17454431 17456183 - 13336766 13338518 - 13318647 13320399 - 6907045;6480464 11450850;12477932;15772651;16344560;21118805;22626734 92552 B4DYC7;Q9H3M9 AB050195;ABBA01071086;AC004674;AK302365;AMYH02038892;BC137186;BC137187;CH471074;DB059638;DB460385;DB525796;DB540973;NG_021356;NM_001135995 AAI37187;AAI37188;BAB18799;BAG63689;EAW98819;NP_001129467;Q9H3M9 Hs.382641 1702558;1751085 DXS1437;SHGC-104952 FLJ59638;MGC168806;MGC168807;MJDL OTTHUMP00000022931;machado-Joseph disease protein 1-like;putative ataxin-3-like protein APPROVED protein-coding HGNC:24173 300920 REVIEWED 1604832 ATXN2L ataxin 2-like This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 p11 27786107 27802989 + 28834369 28848558 + 28823048 28837237 + 6480464 11784712;12477932;14769358;15144186;15175327;15302935;15489334;15576338;15782174;16009940;16713569;16964243;17000644;17081983;17110338;17392519;18729074;18781797;19156129;19615732;19738201;19915574;20020773;20473688;20811636;20935630;21139048;21145461;21890473;21906983;21988832;22586326;22623428;23722424;23862649;24250222;24457600;24654937;24778252;24816145;8619474;8896555;9110174 11273 H3BMX1;H3BPQ7;H3BQ14;H3BQX7;H3BRB0;H3BSK9;H3BSQ5;H3BUE3;H3BUF6;Q8WWM7 ABBA01045688;AC116346;AC133550;AC145285;AF034373;AF070605;AJ317970;AJ317971;AJ317972;AJ317973;AJ317974;AK289981;AL137587;AMYH02031814;AY188334;AY188335;AY188336;AY188337;AY188338;BC010239;BC068012;BC082760;BC136584;BC144269;CH471267;NM_007245;NM_017492;NM_145714;NM_148414;NM_148415;NM_148416;U70671;XM_005255061;XM_005255062;XM_005255063;XM_005255064;XM_005255065;XM_005255066;XM_005255067;XM_005255068;XM_005255069;XM_005255070;XM_005255071;XM_005255072;XM_005255074;XM_005255075;XM_005255076;XM_005255077;XM_006721007;XM_006721008;XM_006721009;XM_006721010;XM_006721011;XM_006721012;XM_006721013;XR_243256 AAB19201;AAC69607;AAH10239;AAH68012;AAH82760;AAI36585;AAO12056;AAO12057;AAO12058;AAO12059;AAO12060;BAF82670;CAC38068;CAC38069;CAC38070;CAC38071;CAC38072;EAW51986;EAW51987;EAW51988;EAW51989;EAW51990;EAW51991;EAW51992;EAW51993;EAW51994;EAW51995;EAW51996;NP_009176;NP_059867;NP_663760;NP_680780;NP_680781;NP_680782;Q8WWM7;XP_005255118;XP_005255119;XP_005255120;XP_005255121;XP_005255122;XP_005255123;XP_005255124;XP_005255125;XP_005255126;XP_005255127;XP_005255128;XP_005255129;XP_005255131;XP_005255132;XP_005255133;XP_005255134;XP_006721070;XP_006721071;XP_006721072;XP_006721073;XP_006721074;XP_006721075;XP_006721076 Hs.460499 1684481;1696190;1765967;2107869;2130205;2159668;5123977;5124090 ATXN2L_9253;D16S3297;RH66987;RH75914;RH80138;SHGC-149359;SHGC-79036;STS-N24050 A2D;A2LG;A2LP;A2RP OTTHUMP00000122536;OTTHUMP00000122537;OTTHUMP00000122538;ataxin 2 related protein;ataxin-2 domain protein;ataxin-2-like protein;ataxin-2-related protein APPROVED protein-coding ENSG00000168488 HGNC:31326 06394 607931 REVIEWED 2816966 ATXN7L3B ataxin 7-like 3B INTERACTS WITH all-trans-retinoic acid; tamibarotene; torcetrapib 12 12 12 q21 74598676 74602356 + 74931551 74935232 + 74537771 74541452 + 6480464 12477932;14702039;16344560;19615732;23475819;24250222 552889 Q96GX2 ABBA01026479;AC025257;AK056642;AK095526;AL713650;AMYH02026763;BC009111;BX647460;CH471054;CX868912;DA298752;NM_001136262 AAH09111;EAW97284;NP_001129734;Q96GX2 Hs.744849 1653672;1665781;1772599;2172500 1798;D12S1191E;D12S1415;IB3090 FLJ32080;MGC17296 OTTHUMP00000225428;putative ataxin-7-like protein 3B protein-coding HGNC:37931 615579 VALIDATED 1348320 AUNA1 auditory neuropathy, autosomal dominant 1 ASSOCIATED WITH Auditory Neuropathy, Autosomal Dominant, 1 (inferred) 7240710 15520414 378942 HGNC:23205 609129 1342958 ATXN7L3 ataxin 7-like 3 ENCODES a protein that exhibits ligand-dependent nuclear receptor transcription coactivator activity; transcription coactivator activity; INVOLVED IN histone deubiquitination; positive regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN SAGA complex; INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); paracetamol (ortholog); pirinixic acid (ortholog) 17 17 17 q21.31 38977906 38984265 - 42269173 42275747 - 44191805 44199701 - 6480464;8554872 12477932;14702039;15115762;15489334;16713569;16751776;18206972;19615732;19843541;20634802;21746879;23382074 56970 K7EJK2;K7EKG9;K7EMZ3;K7ENU1;K7ENZ2;Q14CW9 ABBA01028383;AC004596;AK056002;AK074344;AK126117;AK296689;AL390158;AMYH02033472;BC024695;BC037418;BC064932;BC100295;BC113595;BC126113;CH471178;DQ588490;NM_001098833;NM_020218;XM_005257526;XM_006721979 AAH37418;AAI13596;AAI26114;ADR82942;BAB71070;BAG59283;CAB99093;EAW51622;NP_001092303;NP_064603;Q14CW9;XP_005257583;XP_006722042 Hs.512651 1791254;2140699;2140701;2172594;2191573;2191769 A005Q19;G20416;MARC_26625-26626:1034086788:1;MARC_7251-7252:996687693:1;MARC_8253-8254:996688461:1;RH16013 DKFZp761G2113 ATXN7L3 {ECO:0000255|HAMAP-Rule:MF_03047};SAGA-associated factor 11 homolog;SAGA-associated factor 11 homolog {ECO:0000255|HAMAP-Rule:MF_03047};ataxin-7-like protein 3;ataxin-7-like protein 3 {ECO:0000255|HAMAP-Rule:MF_03047} protein-coding ENSG00000087152 HGNC:25416 VALIDATED 1606333 ATXN3 ataxin 3 Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009] 14 14 14 q21 72577489 72625559 - 92524896 92572965 - 92058552 92106621 - 6480464;6907045;7240710;8699517 10915768;11121205;11450850;11572863;11804332;12084819;12127147;12166658;12297501;12477932;12486728;12766160;12832059;12857950;12873751;12914917;12938929;12940846;12944423;12944474;14559776;14602712;14659761;14661975;14679302;14746390;14749733;14756671;15026782;15128861;15140190;15210524;15223312;15236410;15265035;15316156;15345714;15489334;15537899;15544810;15630566;15767577;15808507;15952105;16040601;16087686;16118278;16126176;16194547;16196087;16344560;16389595;16525503;16624810;16687213;16712842;16713569;16724006;16791428;16822850;16939621;16967484;17000876;17079677;17082820;17302910;17434145;17440947;17488727;17626202;17632007;17683516;17693639;17696782;17885668;17935801;17948873;17956866;18160752;18182848;18199748;18353661;18358414;18385100;18391950;18391951;18449188;18599482;18781797;18839019;18927607;18990604;19013454;19049837;19065528;19153604;19175675;19185026;19235102;19240029;19259763;19382171;19429074;19492089;19503814;19542537;19575245;19615732;19660550;19661182;19666135;19672991;19714377;19783548;19843543;19935829;20017304;20069235;20140862;20219685;20301317;20301375;20334689;20376803;20414249;20510362;20533274;20546612;20622874;20625959;20637808;20639865;20810784;20865150;20940148;20943656;21060878;21092747;21118805;21139048;21334959;21386698;21504740;21533208;21536589;21625540;21780213;21827905;21832049;21855799;21869492;21890473;21900206;21906983;21963094;21987572;22037589;22053931;22081612;22113611;22118674;22129356;22234302;22419666;22422287;22491195;22505724;22626734;22706685;22761419;22777171;22843411;22970133;23000965;23042605;23100324;23184527;23314748;23349684;23382880;23383273;23562578;23625928;23659897;23824909;23870195;23926002;23993092;24063750;24068323;24100225;24106274;24196352;24654937;24685680;24769000;24865853;25015289;7655453;7825578;7874163;8125298;8358439;8640226;9124802;9274833;9535906;9580663 4287 C9JQV6;D3VVP3;D6R9I5;E9PJN5;F5H211;G3V2G1;G3V2G2;G3V328;G3V390;G3V3A6;G3V3R7;G3V3S5;G3V3T0;G3V3T6;G3V4B1;G3V4F4;G3V4F5;G3V4U9;G3V526;G3V5H3;P54252;S4R399 AB038653;AB050194;AB209309;ABBA01030459;ABBA01030460;ABBA01030461;ABBA01030462;ABBA01030463;AK225884;AK307720;AK314919;AL049872;AL121773;AMYH02029758;BC022245;BC033711;BC095402;BU190081;BU663113;CH471061;DA827537;EU009923;GQ176435;GQ176436;GQ176437;GQ176438;GQ176443;GQ176445;GQ176446;GQ176452;GQ176453;GQ176454;GQ176455;GQ176456;GQ176457;GQ176459;GQ176461;GQ176462;GQ176463;GQ176464;GQ176465;GQ176466;GQ176467;GQ176469;GQ176474;GQ176475;GQ176476;GQ176477;GQ176479;GQ176480;GQ176482;GQ176483;GQ176484;GQ176485;GQ176486;GQ176487;GQ176488;GQ176489;GQ176490;GQ176492;GQ176493;GQ176494;GQ176496;GQ176497;GQ176499;GQ176510;GQ176511;GQ176525;GQ176529;GQ176531;GQ176532;GQ176533;GQ176534;GQ176536;GQ176538;GQ176542;GQ176543;GQ176545;GQ176546;GQ176547;GQ176548;GQ176550;GQ176551;GQ176552;GQ176554;GQ176556;GQ176559;GQ176560;GQ176563;GQ176565;GQ176566;GQ176567;GQ176570;GQ176574;GQ176576;GQ176577;GQ176578;GQ176579;GQ176580;GQ176582;GQ176587;GQ176589;GQ176592;GQ176609;GQ176616;GQ176618;GQ176621;GQ176622;GQ176624;GQ176626;GQ176627;GQ176628;GQ176630;GQ176631;GQ176632;GQ176633;GQ176636;GQ176639;GQ176644;GQ176656;GQ176658;GQ176660;GQ176662;GQ176664;GQ176665;GQ176667;GQ176674;GQ176675;GQ176677;GQ176678;GQ176679;GQ176680;GQ176681;GQ176682;GQ176683;GQ176684;GQ176685;GQ176687;GQ176688;GQ176689;GQ176690;GQ176691;GQ176692;GQ176693;GQ176694;GQ176695;GQ176696;GQ176697;GQ176700;GQ176701;GQ176702;GQ176703;GQ176712;GQ176714;GQ176715;GQ176716;GQ176718;GQ176719;GQ176720;GQ176721;GQ176722;GQ176723;GQ176724;GQ176725;GQ176726;GQ176727;GQ176728;GQ176737;GQ176740;GQ176741;GQ176743;GQ176744;GQ176746;GQ176748;GQ176749;GQ176750;GQ176753;GQ176754;GQ176755;GQ176756;GQ176757;GQ176758;GQ176759;GQ176760;GQ176761;GQ176763;GQ176766;GQ176767;GQ176769;GQ176770;GQ176771;GQ176772;GQ176773;GQ176774;GQ176776;GQ176778;GQ176779;GQ176780;GQ176781;GQ176782;GQ176784;GQ176785;GQ176786;GQ176787;GQ176789;GQ176790;GQ176793;GQ176805;GQ176807;GQ176809;GQ176810;GQ176811;GQ176812;GQ176813;GQ176814;GQ176815;GQ176817;GQ176818;GQ176819;GQ176820;GQ176821;GQ176823;GQ176828;GQ176832;GQ176833;GQ176835;GQ176836;GQ176837;HI179016;HI179018;NG_008198;NM_001127696;NM_001127697;NM_001164774;NM_001164776;NM_001164777;NM_001164778;NM_001164779;NM_001164780;NM_001164781;NM_001164782;NM_004993;NM_030660;NR_028453;NR_028454;NR_028455;NR_028456;NR_028457;NR_028458;NR_028459;NR_028460;NR_028461;NR_028462;NR_028463;NR_028464;NR_028465;NR_028466;NR_028467;NR_028468;NR_028469;NR_028470;NR_031765;S75313;U64820;U64821;U64822 AAB33571;AAB63352;AAB63353;AAB63354;AAH33711;AAH95402;ABM82208;ABS29269;ABW03377;ADD00637;ADD00638;ADD00639;ADD00642;ADD00643;ADD00644;ADD00645;ADD00646;ADD00647;ADD00648;ADD00649;ADD00650;ADD00651;ADD00652;ADD00653;ADD00654;ADD00655;ADD00656;ADD00659;ADD00662;ADD00663;ADD00668;ADD00669;ADD00670;ADD00671;ADD00672;ADD00675;ADD00676;ADD00677;ADD00678;ADD00679;ADD00680;ADD00681;ADD00682;ADD00684;ADD00685;ADD00686;ADD00688;ADD00690;ADD00691;ADD00692;ADD00693;ADD00694;ADD00699;ADD00703;ADD00704;ADD00706;ADD00707;ADD00709;ADD00710;ADD00711;ADD00712;ADD00714;ADD00715;ADD00718;ADD00721;ADD00722;ADD00724;ADD00728;ADD00729;ADD00730;ADD00731;ADD00732;ADD00733;ADD00734;ADD00736;ADD00737;ADD00738;ADD00739;ADD00740;ADD00741;ADD00744;ADD00745;ADD00746;ADD00750;ADD00751;ADD00752;ADD00753;ADD00754;ADD00755;ADD00756;ADD00757;ADD00759;ADD00760;ADD00762;ADD00764;ADD00765;ADD00766;ADD00767;ADD00768;ADD00769;ADD00770;ADD00771;ADD00772;ADD00774;ADD00775;ADD00776;ADD00777;ADD00778;ADD00779;ADD00780;ADD00782;ADD00783;ADD00784;ADD00785;ADD00786;ADD00787;ADD00788;ADD00789;ADD00792;ADD00797;ADD00800;ADD00801;ADD00802;ADD00803;ADD00804;ADD00805;ADD00809;ADD00810;ADD00811;BAB18798;BAB55645;BAB55646;BAD92546;CBX53817;CBX53818;EAW81471;EAW81472;EAW81473;EAW81474;EAW81475;NP_001121168;NP_001121169;NP_001158246;NP_001158248;NP_001158249;NP_001158250;NP_001158251;NP_001158252;NP_001158253;NP_001158254;NP_004984;NP_109376;P54252 Hs.532632 1698424;1739631;1788646;2107871;2110103;2121038;2133108;2142492;2142539;2163762;5016596;5016598;5020635;5020740;5020948;5021369;5037552;5095802;5109281 ATXN3_8472;D14S1196;D14S891E;D14S968;D1S1425;D7S3207;D8S2279;G35435;G35510;G35728;G64288;GDB:631802;L17796;L17809;MJD_SNP1;RH102757;RH18151;RH66122;RH69604 AT3;ATX3;JOS;MJD;MJD1;RP11-529H20.5;SCA3 Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3);Machado-Joseph disease protein 1;OTTHUMP00000221583;OTTHUMP00000221584;OTTHUMP00000221585;OTTHUMP00000221586;OTTHUMP00000221587;OTTHUMP00000231995;OTTHUMP00000231997;OTTHUMP00000245314;OTTHUMP00000245315;OTTHUMP00000245317;OTTHUMP00000245320;OTTHUMP00000245325;OTTHUMP00000245332;ataxin 3 variant h;ataxin 3 variant m;ataxin 3 variant ref;ataxin-3;josephin;olivopontocerebellar ataxia 3;spinocerebellar ataxia type 3 protein APPROVED protein-coding ENSG00000066427 HGNC:7106 06131 109150;607047 REVIEWED 1603419 ATXN8 ataxin 8 Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010] q21 7240710;8699517 16804541;18418692;19203395;19229559;19259763;19714377;20301317;20301445;21827909;22053702;22297462;22577844 724066 Q156A1 DQ641254;GQ176777 ABG34539;ADD00781;Q156A1 Hs.532632;Hs.645205 2113574;5016598 G64288;SCA8_SNP1 ATXN3 ataxin-8;protein 1C2 APPROVED protein-coding HGNC:32925 608768;613289 1346559 ATXN8OS ATXN8 opposite strand (non-protein coding) This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008] 13 13 13 q21 51583416 51615949 + 70681345 70713885 + 70107213 70139753 + 7240710;8699517 10192387;10888605;11697524;11708995;11807410;11919683;12140678;12431257;12505613;12545428;14756671;14960773;14966165;15148151;15152344;15732096;16054804;16804541;17132942;18684474;18708037;18841561;19229559;19235102;19680445;19680539;20301317;20301445;24040107 6315 ABBA01050312;AF126749;AL160391;AMYH02028219;HG505718;NG_016173;NR_002717 Hs.676453 2113574;2128014 D4S2793;SCA8_SNP1 KLHL1AS;NCRNA00003;SCA8 APPROVED ncrna HGNC:10561 603680;608768 REVIEWED 1350736 ATXN7L2 ataxin 7-like 2 INTERACTS WITH atrazine; calcitriol; testosterone 1 1 1 p13.3 108295911 108304776 + 110026533 110035426 + 109483911 109492804 + 737633;6480464 12477932 16710414;16713569;19615732;20125088;20379614;20383146 127002 I6L9B5;Q5T6C4;Q5T6C5;S4R3G5 ABBA01068378;AK090460;AL355145;AMYH02001711;BC036849;BC037582;NM_153340;XM_005270445;XM_005270446 AAH36849;BAC03441;NP_699171;Q5T6C5;XP_005270502;XP_005270503 Hs.118248 1650054 SHGC-75273 FLJ00381;MGC46534 OTTHUMP00000012702;ataxin 7-like 1;ataxin-7-like protein 2 protein-coding ENSG00000162650 HGNC:28713 12506 VALIDATED 1352749 AURKAPS2 aurora kinase A pseudogene 2 10 10 10 q25.3 109734927 109736124 + 116005759 116006956 + 114246000 114247197 + 386665 ABBA01062982;AC005383;AMYH02023849;NG_003111 STK6LP pseudo HGNC:18612 INFERRED 1601974 AUNIP aurora kinase A and ninein interacting protein INVOLVED IN spindle organization; FOUND IN centrosome; spindle pole; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 1 1 1 p36.11 24556593 24581939 - 26158414 26185939 - 25831913 25859458 - 6480464 10737800;12477932;14702039;19322201;20596670;23455924;8125298 79000 Q9H7T9 ABBA01034887;AI198661;AK024326;AK223419;AL020996;AL033528;AMYH02000547;BC000209;BF987554;BJ989876;CH471059;GQ844687;HG491797;NM_001287490;NM_024037 AAH00209;ACV90488;ADZ15753;BAB14886;BAD97139;EAX07863;NP_001274419;NP_076942;Q9H7T9 Hs.149305;Hs.725400 1692164;1716451;1849307;2107369 AL033716;MGC2603__7694;RH121405;SHGC-74421 AIBP;C1orf135;FLJ14264;MGC2603;RP1-317E23.7 OTTHUMP00000008503;aurora A-binding protein;aurora kinase A and ninein-interacting protein;uncharacterized protein C1orf135 APPROVED protein-coding ENSG00000127423 HGNC:28363 08323 VALIDATED 1606265 AURKAIP1 aurora kinase A interacting protein 1 INVOLVED IN positive regulation of proteolysis; FOUND IN intracellular membrane-bounded organelle; mitochondrion; nucleus; INTERACTS WITH all-trans-retinoic acid; atrazine; dimethyl sulfoxide 1 1 1 p36.33 1271320 1273028 + 1309110 1310818 - 1373730 1375438 - 6480464 12244051;12477932;13678582;14702039;15271856;15342556;15489334;16341674;16710414;17207965;17452972;17957726;18029348;18391981;18521620;19221504;20877624;21145461;21319273;21890473;21932983;22356826;8681137 54998 Q6PI41;Q9NWT8 ABBA01016037;AC026283;AJ573456;AK000615;AL139287;AMYH02000097;AW576100;BC022808;BC035595;BC046345;BC062333;BE903314;BF664406;BG764236;BM781908;BP198074;CH471183;DN994953;F31434;NM_001127229;NM_001127230;NM_017900 AAH22808;AAH46345;AAH62333;ADQ32127;BAA91289;EAW56218;EAW56219;NP_001120701;NP_001120702;NP_060370;Q9NWT8 Hs.632515 2131427 RH41935 AIP;AKIP;FLJ20608;MRP-S38 28S ribosomal protein S38, mitochondrial;AURKA-interacting protein;OTTHUMP00000001518;OTTHUMP00000003014;OTTHUMP00000003015;OTTHUMP00000003016;aurora kinase A-interacting protein;aurora-A kinase interacting protein protein-coding ENSG00000175756 HGNC:24114 16457 609183 VALIDATED 1602731 AUP1 ancient ubiquitous protein 1 This gene encodes a protein that contains a domain with homology to the ancient conserved region of the archain 1 gene and a domain that may be involved in binding ubiquitin-conjugating enzymes. The protein encoded by this gene has been shown to bind to the conserved membrane-proximal sequence of the cytoplasmic tail of integrin alpha(IIb) subunits. These subunits play a crucial role in the integrin alpha(IIb)beta(3) inside-out signalling in platelets and megakaryocytes that leads to platelet aggregation and thrombus formation. This gene overlaps the gene for mitochondrial serine protease 25. [provided by RefSeq, Jul 2008] 2 2 2 p13 74584883 74588082 - 74753775 74757019 - 74526648 74529892 - 6480464;8554872 11042152;12042322;12477932;12534237;12534238;14702039;15231748;15489334;16196087;17353931;17725712;18029348;18711132;18781797;19946888;20435896;20562859;21127063;21139048;21857022;21890473;21906983;21963094;21987572;22053931;22268729;22505724;22797925;22990118;23000965;23197321;23223569;23246001;23464991;24039768;25015289;8812468 550 Q9Y679 ABBA01075602;AC005041;AF100746;AF100753;AF100754;AF165515;AI206563;AK023983;AK055566;AK293121;AK301398;AK304886;AK308231;AK310159;AMYH02004091;BC001658;BC033646;CH471053;CR749661;CR999537;NG_012163;NG_033037;NM_181575;XM_005264392;XR_244944 AAD43010;AAD43017;AAD43018;AAF86645;AAH01658;AAH33646;ACE86627;ACE87308;BAB14753;BAF85810;BAG62933;BAG65623;CAH18454;EAW99622;EAW99623;EAW99624;EAW99625;NP_853553;Q9Y679;XP_005264449 Hs.411480 1734746;1734814;2171782;2189429 D2S1537E;D2S1577E;MARC_5801-5802:991939731:1;WI-19737 OTTHUMP00000160424;OTTHUMP00000202724 APPROVED protein-coding ENSG00000115307 HGNC:891 03892 602434 REVIEWED 1314501 AUH AU RNA binding protein/enoyl-CoA hydratase The methylglutaconyl-CoA hydratase, mitochondrial protein binds to the AU-rich element (ARE), a common element found in the 3' UTR of rapidly decaying mRNA such as c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. AUH is also homologous to enol-CoA hydratase, an enzyme involved in fatty acid degradation, and has been shown to have intrinsic hydratase enzymatic activity. AUH is thus a bifunctional chimera between RNA binding and metabolic enzyme activity. A possible subcellular localization in the mitochondria has been demonstrated for the mouse homolog of this protein which shares 92% identity with the human protein. It has been suggested that AUH may have a novel role as a mitochondrial located AU-binding protein. Human AUH is expressed as a single mRNA species of 1.8 kb, and translated as a 40-kDa precursor protein which is subsequently processed to a 32-kDa mature form. [provided by RefSeq, May 2010] 9 9 9 q22.31 64410745 64558849 - 93976097 94124215 - 91213815 91361933 - 1599425;1580863;6480464;6907045;7240710;8554872;8699517 12434311 10072761;11076863;11738050;12477932;12655555;15033206;15489334;15489336;16344560;16381901;16640564;18831052;18978678;20877624;21150874;21840233;21963094;24250222;24598254;7892223;9108262 549 B4DYI6;Q13825 ABBA01012850;ABBA01012851;ABBA01012852;ABBA01012853;AK302453;AL158071;AL353645;AL513353;AMYH02021203;AMYH02021204;AV751432;BC020722;BG706374;CH471089;DA724873;NG_008017;NM_001698;X79888;XM_005252066;XM_005252067;XM_005252068;XM_005252069;XM_005252071;XM_005252072;XM_005252073;XM_006717150 AAH20722;ABM82962;ABM86153;BAG63748;CAA56260;CAL38298;EAW62794;EAW62795;NP_001689;Q13825;XP_005252123;XP_005252124;XP_005252125;XP_005252126;XP_005252128;XP_005252129;XP_005252130;XP_006717213 Hs.175905 1650091;1658425;1706330;1707238;1714679;1718775;1769730;5022450;5022578 D10S275;D1S1423;D9S2075;D9S787;RH120004;RH123078;SHGC-31547;SHGC-79213;SHGC-80730 3-methylglutaconyl-CoA hydratase;AU RNA binding protein/enoyl-Coenzyme A hydratase;AU RNA-binding protein/enoyl-Coenzyme A hydratase;AU-binding protein/Enoyl-CoA hydratase;AU-specific RNA-binding enoyl-CoA hydratase;OTTHUMP00000021631;OTTHUMP00000021632;methylglutaconyl-CoA hydratase, mitochondrial APPROVED protein-coding ENSG00000148090 HGNC:890 08987 250950;600529 REVIEWED 1350150 AURKAPS1 aurora kinase A pseudogene 1 1 1 1 q41 193658730 193660266 - 220439521 220441057 - 220266179 220267715 - 12477932;9605851 6791 ABBA01048081;AL445435;AMYH02002731;BC050630;NG_015837;NR_001587 Hs.654849;Hs.744357 2177179 SHGC-53807 AurAps1;STK6P serine/threonine kinase 6 pseudogene APPROVED pseudo HGNC:18611 VALIDATED 1353168 AURKA aurora kinase A The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13 51683792 51707784 - 54944445 54967351 - 56369389 56392454 - 1580863;1643348;1643346;2293872;2293871;2293873;2293874;2293877;2293884;2293878;2293883;6480464;7240710 14693746;15466974;15754349;16311121;16707419;17349527;17465238;17599395;18314619;18485461 10377410;11039908;11050385;11076863;11256614;11413462;11551964;11780052;11784863;11790771;11847097;11903063;11976319;12177045;12198151;12237287;12244051;12354758;12467573;12477932;12490715;12559175;12631597;12684414;12693093;12716366;12833450;12881723;12883693;12927815;13678575;13678582;14580337;14600264;14602875;14603251;14667408;14692019;14702041;14744757;14990569;15041727;15064709;15078988;15087379;15128871;15147269;15173575;15190214;15271853;15271856;15289843;15469940;15489334;15489336;15504738;15534106;15536123;15592510;15598762;15688402;15749021;15793587;15802297;15839305;15860351;15867347;15880741;15944763;15966895;15987997;16011022;16049965;16080195;16082213;16158051;16332542;16337122;16377583;16381901;16411056;16412566;16572587;16574658;16712791;16767676;16772293;16849685;16860930;16890155;16894566;16912073;16951231;17003782;17018785;17060341;17060449;17102620;17113223;17120309;17125279;17143471;17219423;17229885;17333265;17353931;17390048;17433255;17438137;17441355;17441356;17452972;17457043;17488622;17505013;17563743;17591802;17604723;17627006;17634283;17634533;17634535;17673924;17686574;17705509;17726514;17786310;17850717;17851643;17898866;17908995;17909067;17914111;17925329;17926144;17935280;17939994;17940067;17957726;17974987;18019715;18027856;18043979;18284933;18311783;18321990;18353975;18361427;18361916;18372918;18390187;18391981;18431743;18434591;18466087;18469155;18562694;18566290;18592005;18615013;18628459;18641684;18662907;18663142;18663358;18667445;18669163;18676680;18707550;18708766;18773538;18776222;18790738;18802780;18803637;18812553;18815537;18823025;18854777;18931650;19001879;19028417;19059698;19060929;19074838;19111882;19117984;19124506;19157502;19170196;19197335;19204928;19232520;19306133;19351716;19357306;19412426;19435814;19440020;19487276;19494039;19550118;19551141;19564927;19616898;19625176;19648887;19649632;19652203;19671766;19672706;19690970;19692168;19696028;19738056;19774610;19799648;19801554;19812038;19821797;19822419;19874801;19891769;19901077;19954064;20002563;20003375;20043089;20160025;20168084;20182874;20182906;20189840;20360068;20368716;20371132;20373286;20379614;20382844;20444701;20453000;20459534;20460379;20464476;20585902;20593995;20598352;20603326;20629650;20682043;20708655;20713353;20732714;20819778;20854072;20865660;20922573;20929925;20960027;21045147;21050672;21052088;21059223;21072059;21097701;21099343;21116854;21139048;21147853;21163064;21187329;21198377;21247708;21300005;21347367;21410931;21412660;21441901;21470402;21472690;21479365;21554500;21584819;21589936;21590355;21598251;21600873;21617231;21623171;21670214;21705324;21718475;21731694;21761334;21761347;21774789;21820309;21821029;21822051;21829699;21832049;21840910;21874044;21890473;21890637;21906983;21963094;21978935;21986944;21987572;22011530;22014574;22016509;22094468;22110403;22116466;22207630;22213102;22214762;22222631;22240781;22246202;22262852;22302096;22305495;22306998;22320980;22323290;22340593;22350409;22396649;22451695;22463590;22483753;22492986;22505724;22513362;22522455;22588468;22621899;22753416;22809428;22864622;22894933;22899799;22939629;22940834;23026799;23037716;23047430;23047923;23075505;23092930;23097092;23114921;23151618;23186136;23201157;23204235;23219753;23255113;23273898;23317189;23319376;23322625;23328114;23333597;23334326;23334327;23358695;23411487;23443559;23446853;23481312;23520446;23539442;23547029;23602568;23610398;23627634;23648710;23649807;23661421;23686525;23695679;23761169;23785518;23787073;23788275;23803310;23808327;23821772;23829974;23848594;23887685;23912711;23925655;23934627;23962557;23966163;23970419;23974204;23991974;23993973;24104968;24184958;24240108;24250222;24255178;24273164;24338364;24349361;24452445;24480460;24680704;24756216;24778030;24816145;25002679;9153231;9174055;9514916;9605851;9771714 6790 A3KFJ0;A3KFJ1;A3KFJ2;O14965;Q5QPD1;Q5QPD2;Q5QPD4 ABBA01052891;AF008551;AF011467;AF011468;AF195947;AK301769;AK312776;AL121914;AL711075;AMYH02037339;BC001280;BC002499;BC006423;BC027464;BF029182;BM458030;BQ435059;BU171303;BU542363;CB113289;CB138172;CH471077;D84212;NG_012133;NM_003600;NM_198433;NM_198434;NM_198435;NM_198436;NM_198437;XM_005260534;XM_006723871;XM_006723872 AAC12708;AAC23448;AAC63902;AAF29508;AAH01280;AAH02499;AAH06423;AAH27464;ABM82196;ABM85384;BAA23592;BAG35640;BAG63228;CAL37826;EAW75550;EAW75551;EAW75552;EAW75553;EAW75554;EAW75555;EAW75556;EAW75557;EAW75558;EAW75559;EAW75560;EAW75561;EAW75562;NP_003591;NP_940835;NP_940836;NP_940837;NP_940838;NP_940839;O14965;XP_005260591;XP_006723934;XP_006723935 Hs.250822 1677478;1776446;2177179;5022578 D1S1423;RH12027;RH80570;SHGC-53807 AIK;ARK-1;ARK1;AURA;AURORA2;BTAK;MGC34538;PPP1R47;STK15;STK6;STK7;hARK1 Aurora-A kinase;IPL1-related kinase;OTTHUMP00000031340;OTTHUMP00000031341;OTTHUMP00000031342;OTTHUMP00000031343;OTTHUMP00000031344;OTTHUMP00000031345;OTTHUMP00000166071;OTTHUMP00000166072;aurora 2;aurora-related kinase 1;aurora/IPL1-like kinase;aurora/IPL1-related kinase 1;breast tumor-amplified kinase;breast-tumor-amplified kinase;protein phosphatase 1, regulatory subunit 47;serine/threonine kinase 6;serine/threonine protein kinase 15;serine/threonine-protein kinase 15;serine/threonine-protein kinase 6;serine/threonine-protein kinase aurora-A APPROVED protein-coding ENSG00000087586 HGNC:11393 04066;04352 114500;603072 REVIEWED 1343852 AURKC aurora kinase C This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 54785675 54790201 + 57741750 57746916 + 57230381 57235548 + 1580863;6480464;8554872;8699517 10066797;12477932;12884918;14602875;14671302;15057824;15316025;15499654;15670791;15917996;15938719;16258285;17435757;17637569;18309533;19147683;19649632;19713763;19774610;19953087;20508983;20629650;20663916;21353399;21493633;21531210;21710690;21733974;21890473;21906983;21963094;21987572;21988832;22046298;22087225;22505724;22888167;22939624;22990118;23075505;23292864;23581231;23602568;24484996;9799611;9809744 6795 B4DXA6;M0QX60;M0QYK8;Q5Y191;Q9UQB9 AB017332;ABBA01020814;ABBA01020815;AC005261;AF054621;AF059681;AMYH02036510;AY421575;AY661554;AY714054;BC075064;BX092186;CH471135;NG_012134;NM_001015878;NM_001015879;NM_003160;XR_430209 AAC25955;AAC77369;AAH75064;AAT64422;AAU04399;BAA76292;EAW72485;EAW72486;NP_001015878;NP_001015879;NP_003151;Q9UQB9 Hs.98338 1688257;1797188;5017661 AURKC;RH93146;STK13 AIE2;AIK3;ARK-3;ARK3;AurC;SPGF5;STK13 aurora 3;aurora-C;aurora-related kinase 3;aurora/IPL1-related kinase 3;aurora/IPL1/EG2 protein 2;serine/threonine kinase 13 (aurora/IPL1-like);serine/threonine-protein kinase 13;serine/threonine-protein kinase aurora-C APPROVED protein-coding ENSG00000105146 HGNC:11391 04605 603495 REVIEWED 1350656 AUTS1 autism susceptibility 1 9546821 8311 HGNC:892 1320536 AVEN apoptosis, caspase activation inhibitor INVOLVED IN negative regulation of apoptotic process; FOUND IN intracellular; membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; benzo[a]pyrene 15 15 15 q13.1 10960950 11134340 - 34158428 34331303 - 33866227 34039102 - 1580863;6480464 10949025;12477932;15345747;15489334;15761153;16388850;18303113;18571408;18996102;19096130;19913121;20030919;20379614;20602615;20628086;20800603;20935510;21718987;21906983;22388353;22505724;22751129;23000965;24250222;25015289 57099 H0YKR0;Q9NQS1 ABBA01038546;ABBA01038547;ABBA01038548;ABBA01038549;AC009268;AC010809;AC069045;AF283508;AK025888;AMYH02030144;AMYH02030145;AMYH02030146;AMYH02030147;BC010488;BC063533;BU855198;CH471125;NM_020371;XM_005254563 AAF91470;AAH10488;AAH63533;EAW92281;NP_065104;Q9NQS1;XP_005254620 Hs.555966 1670539;1684343;1685447;1698216;1713111;1719093;1761559;1777191;2133234;2140555;2157250 D15S1263;D15S1355;RH102644;RH120343;RH123264;RH48204;RH66717;RH94176;RH98244;SHGC-145553;WI-15231 PDCD12 OTTHUMP00000159733;cell death regulator Aven;programmed cell death 12 protein-coding ENSG00000169857 HGNC:13509 05588 605265 VALIDATED 1320604 AUTS2 autism susceptibility candidate 2 This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014] 7 7 7 q11.22 62444993 63639505 + 69063905 70257885 + 69598919 70792899 + 1580863;6480464;8554872 12160723;12168954;12477932;12601173;12690205;12853948;18029348;19086053;19240061;19546859;19567891;19913121;20379614;20398908;20628086;20635338;21471458;22325352;22578776;22610502;22693459;22872102;22925353;22995765;23251661;23332918;23349641;23382691;23437340;23455922;23650183;24008202;24859339;8889548;9455477 26053 H7BZZ9;H7C090;H7C0G5;H7C1G5;H7C2P0;L7QF75;Q86WD8;Q8WXX7 AB007902;ABBA01064033;ABBA01064034;ABBA01064035;ABBA01064036;ABBA01064037;ABBA01064038;ABBA01064039;ABBA01064040;ABBA01064041;ABBA01064042;ABBA01064043;ABBA01064044;ABBA01064045;ABBA01064046;AC004773;AC004881;AC004927;AC006012;AC006317;AC006318;AC006319;AC006361;AC073148;AC073873;AC093487;AC093679;AC093685;AF326917;AK025298;AK296981;AMYH02015963;AMYH02015964;AMYH02015965;AMYH02015966;AMYH02015967;AMYH02015968;AMYH02015969;AMYH02015970;AMYH02015971;AMYH02015972;AMYH02015973;AMYH02015974;AMYH02015975;AMYH02015976;AMYH02015977;AMYH02015978;AMYH02015979;AMYH02015980;AMYH02015981;AMYH02015982;AMYH02015983;AW972135;AY211931;BC011643;BC064693;BG208279;BU608023;CA450113;CH236952;CH471140;HI574242;JQ670866;JQ670867;NG_034133;NM_001127231;NM_001127232;NM_015570;XM_005250257;XM_006715920 AAH11643;AAH64693;AAL37411;AAO65184;AAS00369;AAS00371;AAS02044;AAS07446;AAS07468;AAS07486;AFY24235;AFY24236;BAA23714;BAG59522;CBX47610;EAL23968;EAX07895;EAX07896;NP_001120703;NP_001120704;NP_056385;Q8WXX7;XP_005250314;XP_006715983 Hs.21631;Hs.712991 1336515;1336662;1342116;1646950;1649319;1651181;1654349;1661229;1672416;1674886;1684670;1696132;1707486;1711002;1714441;1714827;1716811;1718965;1724677;1739103;1753237;1759697;1770455;1772016;1775583;1786298;1849396;1851743;1853711;1854500;1854615;1856665;2110277;2115722;2117817;2118330;2120141;2127509;2129076;2130061;2136507;2137254;2138151;2139485;2141411;2161745;2167275;2168901;2170296;2171776;2173531;2174412;2177981;2181344;2186774;2186965;7184449;7186545;7186830 1164;1590;AUTS2__4408;D7S1387;D7S1677;D7S1832;D7S1997;D7S2099E;D7S2261;D7S2385E;D7S2435;D7S2500;D7S2798;D7S2803;D7S645;D7S726;D7S769;GDB:1317394;GDB:1317414;GDB:1317678;GDB:1317778;GDB:1317898;GDB:1317946;GDB:1318665;GDB:3754301;GDB:3754413;GDB:4584965;GDB:4585286;GDB:4585349;GDB:4585587;GDB:4585727;RH120213;RH120408;RH121342;RH121701;RH123190;RH35891;RH36141;RH36552;RH48631;RH66649;RH68955;RH91774;SHGC-110082;SHGC-151009;SHGC-153479;SHGC-34763;SHGC-56083;SHGC-56084;SHGC-79069;SHGC-84538;SHGC-84879;STS-AA019937;STS-H09325;WI-11330;WI-21487 FBRSL2;KIAA0442;MGC13140;MRD26 OTTHUMP00000160177;OTTHUMP00000210180;OTTHUMP00000210286;autism susceptibility gene 2 protein;autism susceptibility protein 2 long isoform;autism-related protein 1 protein-coding ENSG00000158321 HGNC:14262 06276 607270 REVIEWED 1351049 AURKBPS1 aurora kinase B pseudogene 1 8 8 8 q23.1 105330362 105331574 - 109143190 109144422 - 108130962 108132194 - 359937;644233 ABBA01037703;AMYH02018587;AP001331;NG_022401 AurBps1 pseudo HGNC:18613 INFERRED 731309 AURKB aurora kinase B This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 17 17 17 p13.1 8136501 8142334 - 8108049 8113944 - 8204731 8210626 - 1580863;2293878;2293877;6480464;8554872 16311121;16707419 10949293;11050385;11413462;11471245;11516652;11756469;11784863;11856369;11976319;12082625;12419797;12466558;12477932;12686604;12689593;12925766;14602875;14610074;14674694;14722118;14744859;14767480;15033491;15064709;15072448;15130946;15249581;15260989;15263015;15280424;15316025;15342556;15489334;15499654;15509656;15562011;15597762;15699543;15761153;15917996;15922328;15923616;15993841;16046481;16103226;16169070;16171786;16179162;16179389;16222244;16222316;16239925;16291752;16565220;16571674;16572587;16762323;16764853;16912073;16916643;16980585;17001311;17084365;17094487;17099693;17164288;17215513;17235564;17274640;17322402;17356064;17457057;17488622;17543862;17558394;17617734;17681274;17686574;17726378;17726514;17914355;17956729;18195732;18201571;18243099;18301241;18463638;18477699;18542055;18563336;18591255;18602486;18628459;18640974;18708766;18710370;18716057;18728397;18767990;18773538;18946085;18974773;19059698;19074838;19074885;19134008;19150808;19157502;19176389;19188929;19189202;19203582;19218110;19225156;19287963;19342897;19357306;19465021;19468067;19494039;19596781;19626681;19649632;19696028;19704020;19774610;19778810;19786723;19823168;19838728;19887622;19951914;19995937;20007324;20112500;20157117;20171103;20177074;20182906;20231380;20231385;20354862;20360068;20368716;20371132;20372054;20430883;20451386;20467329;20471944;20508983;20548097;20562864;20593489;20605920;20619651;20622363;20629633;20629650;20639865;20643881;20651058;20663916;20705812;20732714;20799978;20856855;20864540;20865660;20889715;20929775;20937697;20959462;20960027;21057000;21116854;21139048;21143115;21148584;21222513;21299608;21397507;21397845;21470402;21486945;21554500;21587233;21633354;21646403;21658950;21723127;21775627;21786106;21820309;21822051;21832049;21840910;21844210;21852114;21874044;21875947;21890473;21906983;21963094;21987572;21988832;22011448;22024163;22024481;22087225;22099307;22159225;22222631;22267324;22311150;22350409;22371557;22422861;22449725;22463590;22505724;22611192;22688343;22722494;22724069;22751009;22767597;22801782;22809428;22843098;22865920;22870391;22939624;22940834;22972986;22990868;23000965;23075505;23092930;23095493;23100464;23114921;23226345;23313006;23370391;23416158;23443559;23557198;23562843;23569217;23584797;23613471;23712260;23746640;23750214;23788275;23829974;23901111;23934627;23940115;23951055;23960144;24149858;24187132;24189697;24250222;24255178;24482237;24589731;24616220;24654937;24752893;24756216;24782314;24814515;24857377;24862574;24925910;25036637;9514916;9809983;9858806;9931403 9212 J3KRF8;J3KRJ2;J3KT86;J3KTD6;J3QLN8;J3QR41;Q96GD4 AB011446;AB011450;AB519677;AB519678;AB519679;ABBA01054902;ABBA01054903;AC135178;AF004022;AF008552;AF015254;AK297976;AK314889;AMYH02032923;AX934321;AY677083;BC000442;BC009751;BC013300;BC080581;BE514591;BP225027;BT019534;CH471108;NM_001256834;NM_001284526;NM_004217;XM_005256854 AAB65786;AAC12709;AAC98891;AAH00442;AAH09751;AAH13300;AAH80581;AAV38341;BAA32136;BAA82709;BAG37403;BAG60286;BAI23190;BAI23191;BAI23192;CAF04021;EAW90073;EAW90074;EAW90075;EAW90076;EAW90077;EAW90078;EAW90079;NP_001243763;NP_001271455;NP_004208;Q96GD4;XP_005256911 Hs.442658 1643852;2144829 RH17506;SGC34636 AIK2;AIM-1;AIM1;ARK-2;ARK2;AurB;IPL1;PPP1R48;STK-1;STK12;STK5;aurkb-sv1;aurkb-sv2 OTTHUMP00000135331;aurora 1;aurora kinase B-Sv1;aurora kinase B-Sv2;aurora- and Ipl1-like midbody-associated protein 1;aurora-1;aurora-B;aurora-related kinase 2;aurora/IPL1-related kinase 2;protein phosphatase 1, regulatory subunit 48;serine/threonine kinase 12;serine/threonine-protein kinase 12;serine/threonine-protein kinase 5;serine/threonine-protein kinase aurora-B APPROVED protein-coding ENSG00000178999 HGNC:11390 05397 604970 VALIDATED 731808 AVIL advillin The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008] 12 12 12 q14.1 57849081 57867775 - 58190415 58210193 - 57796632 57818704 - 1580863;6480464 11287316;12034507;12477932;14702039;15096633;18022635;21963094;9664034 10677 F8VNY0;F8VVU1;O75366 ABBA01026693;AC025165;AC121759;AF041449;AK022448;AK314362;AMYH02026596;BC111730;BX647344;CH471054;NM_006576;XM_006719198 AAC25051;AAI11731;BAG36994;EAW97079;EAW97080;NP_006567;O75366;XP_006719261 Hs.584854 1687041;1736248;1777935;2147698;2147700;2148829;2150656;2166322;2184523;5015861;5109281;7185938 A005K05;A006V17;D10S16;D12S1197E;D1S1425;G20278;RH45892;RH65542;RH77844;RH80377;WI-13965 ADVIL;DKFZp779O1812;DOC6;FLJ12386;MGC133244;p92 OTTHUMP00000243877;pervin APPROVED protein-coding HGNC:14188 09816 613397 REVIEWED 68968 AVP arginine vasopressin This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin 2 and a glycopeptide, copeptin. Arginine vasopressin is a posterior pituitary hormone which is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). [provided by RefSeq, Mar 2010] 20 20 20 p13 3125188 3127356 - 3063202 3065370 - 3082556 3084724 - 1579880;734624;1579871;1601243;1580863;1601303;1601304;1601305;1358326;2301917;2301918;2301919;2301924;2304139;2301922;1579891;2303174;2312656;6480464;6907045;7240710;8554872;8699517 12438923;12590641;12623976;12942143;14624682;15897635;16497839;16582573;17393298;17940875;18420743;18431594;18494865;18578860;18925713;18987488;8945633 10369876;10443701;10487710;10677561;11017955;11150885;11161827;11384615;11443218;11713645;11748489;11780052;11836335;11857925;11980620;12012274;12036966;12107248;12359138;12364435;12403649;12477932;12519420;12566732;12931042;13591312;14510916;14579113;14607844;14660745;14673472;14996841;15070970;15203290;15356057;15489334;15538939;15624761;16274233;16333859;16971491;17075130;1740104;17927668;18092379;18172431;18240029;18256370;18272843;18316776;18384079;18402937;1840604;18538351;18673414;18807739;18995178;19086053;19114902;19129716;19260089;19322201;19337789;19366852;19500216;19564455;19638944;19672816;1968469;1978246;19821843;19825939;19847155;19897608;19942636;19945299;20010879;20144509;20368512;20413521;20439785;20468064;20508186;20620528;21088058;21106053;21123762;21216019;21437268;21490073;21498630;21501333;21519298;21554881;21677651;21752550;21766239;21834801;21915168;21960250;22104994;22245314;22286033;22307687;22516290;22524462;22644838;22695750;22820037;22832391;22921847;22954353;23142954;23235301;23246575;23252994;23278971;23298558;23326397;23402790;23499814;23515451;23560938;23584859;23589638;23757433;23973863;24023652;24086383;24156710;24184419;24215469;24270077;24375010;24488583;24722188;2521920;2874053;2991279;3390991;3768139;4065330;6153132;6574452;7271787;7714110;7921229;7929452;8045958;8103767;8106369;8370682;8514868;8550751;8554046;8626836;8794883;8989232;9360520;9467595;9580132;9814475 551 P01185;Q9UMM9;X5DQP6 ABBA01053808;AF031475;AF031476;AI478178;AL160414;AMYH02036591;AMYH02036592;BC018062;BC126196;BC126224;BG715518;CH471133;KJ534777;KJ534778;M11166;M25647;M63733;M63734;NG_008663;NM_000490;X03172;X62890;X62891 AAA61291;AAA69844;AAA98772;AAB86628;AAB86629;AAI26197;AAI26225;AHW56417;AHW56418;CAA26935;CAA44681;CAA44682;EAX10554;NP_000481;P01185 Hs.89648 1684238 RH98810 ADH;ARVP;AVP-NPII;AVRP;VP OTTHUMP00000030089;antidiuretic hormone;arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal);neurohypophyseal;prepro-AVP-NP II;prepro-arginine-vasopressin-neurophysin II;vasopressin-neurophysin 2-copeptin;vasopressin-neurophysin II-copeptin APPROVED protein-coding ENSG00000101200 HGNC:894 01891 125700;192340 REVIEWED 1604629 AVL9 AVL9 homolog (S. cerevisiase) INVOLVED IN cell migration; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN recycling endosome; INTERACTS WITH cyclosporin A; elemental selenium; hydrogen peroxide 7 7 7 p14.3 32519090 32608957 + 32535101 32628327 + 32495489 32588715 + 6480464;8554872 12477932;12690205;14702039;17229886;21890473;22595670;24163370;24816145;9039502 23080 B8ZZW5;H7C0I1;Q8N6Z3;Q8NBF6 AACC02000087;ABBA01056837;ABBA01056838;ABBA01056839;ABBA01056840;ABBA01056841;ABBA01056842;ABBA01056843;AC018633;AC018641;AK090619;AL833560;AMYH02015477;AMYH02015478;AMYH02015479;BC027724;CH471073;D87682;NM_015060;XM_005249668;XM_005249669;XM_005249670;XM_005249671 AAH27724;BAA13435;BAC03489;CAH10387;EAL24439;EAW93992;EAW93993;EAW93994;EAW93995;EAW93996;EAW93997;NP_055875;Q8NBF6;XP_005249725;XP_005249726;XP_005249727;XP_005249728 Hs.128056 1655423;1679427;1735716;1854518;2114685;2132748;2145360;5015961;5024761 D15S1477;D7S1655;D7S1675;D7S2170E;GDB:1318160;RH36905;RH67910;RH92272;WI-15557 DKFZp686G0344;KIAA0241 OTTHUMP00000202740;OTTHUMP00000202741;OTTHUMP00000202742;late secretory pathway protein AVL9 homolog protein-coding ENSG00000105778 HGNC:28994 13788 612927 PROVISIONAL 1349822 AVSD1 atrioventricular septal defect 1 ASSOCIATED WITH Atrioventricular Canal Defect (inferred) 7240710 9002679 7446 1339067;1339494;2158942 D1S1587;D1S3471;D1S406 HGNC:12721 606215 68986 AVPR1A arginine vasopressin receptor 1A The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008] 12 12 12 q14-q15 63208681 63215055 - 63536539 63547971 - 63142287 63154191 - 734625;1579891;1580863;1358326;2300375;2300333;2300334;2300323;2300348;2300322;2300376;2300319;2300330;2300372;2300337;2300338;6480464 10466725;12641544;12942143;14624682;14647048;15475662;15613739;15657301;16423716;16671476;17244947;17347933;17653244;18467593;18508119 10477084;10478574;10756113;10858434;12082568;12436935;12477932;12869559;14622255;14757828;15098001;15489334;15994199;16205790;16333859;16520824;16565083;16721832;16754659;17440932;17696996;17728669;17939166;18240029;18384079;18402937;18490926;18655900;18765804;19056558;19086053;19195791;19350216;19461995;19598235;19874574;19913121;20142561;20368512;20413116;20452058;20468064;20546835;20628086;20889332;21307861;21514569;21747049;21980412;22008661;22288734;22384070;22457427;22764113;24373571;24722188;8012384;8074728;8106369;8344200;8838314;9357056;9581826 552 F8VW98;P37288;X5D2B0 AA533159;ABBA01026625;AC135584;AF030625;AF101725;AF208541;AMYH02026644;AY322550;BC074803;BC074804;CH471054;DQ177277;KJ534779;KJ534780;L25615;NM_000706;S73899;U19906;XM_005269002;Z59305 AAA62271;AAB19232;AAC51861;AAC60638;AAD17891;AAF18470;AAH74803;AAH74804;AAP84363;ABA02557;AHW56419;AHW56420;EAW97115;NP_000697;P37288;XP_005269059 Hs.2131 1721543;1774655;2161982;5110819 D12S1901;G59776;RH48734;STS-L25615 AVPR V1a;AVPR1;V1aR OTTHUMP00000242555;SCCL vasopressin subtype 1a receptor;V1-vascular vasopressin receptor AVPR1A;V1a vasopressin receptor;antidiuretic hormone receptor 1A;vascular/hepatic-type arginine vasopressin receptor;vasopressin V1a receptor APPROVED protein-coding HGNC:895 02894 600821 REVIEWED 1346796 AWAT1 acyl-CoA wax alcohol acyltransferase 1 The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the sebaceous gland of the skin. [provided by RefSeq, Sep 2009] X X X q13.1 69807845 69813851 + 69454505 69460511 + 70234655 70240661 + 6480464 12477932;14970677;15671038;15772651 158833 Q58HT5 ABBA01067544;ABBA01067545;AL357752;AMYH02039655;AY947638;BC039181;BN000155;CH471132;NG_013225;NM_001013579;W68831 AAI46429;AAI53035;AAX48018;CAD89266;EAX05353;NP_001013597;Q58HT5 Hs.407641 1701814;2219076 DGAT2L3__4699;DXS1399 DGA2;DGAT2L3 OTTHUMP00000023471;diacyl-glycerol acyltransferase 2;diacylglycerol O-acyltransferase 2-like 3;diacylglycerol O-acyltransferase 2-like protein 3;diacylglycerol acyltransferase 2;long-chain-alcohol O-fatty-acyltransferase 1 APPROVED protein-coding ENSG00000204195 HGNC:23252 10296 300924 REVIEWED 1353971 AVPI1 arginine vasopressin-induced 1 INVOLVED IN activation of MAPK activity (inferred); INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; atrazine 10 10 10 q24.2 93174490 93184285 - 99437181 99447015 - 97677424 97687258 - 6480464 12356727;12477932;15164054;15489334;15498874;16385451;20098747;21832049;8125298;8619474;9110174 60370 Q5T686 ABBA01021791;ABBA01021792;AF131791;AF218019;AF241786;AK024533;AK222493;AK223099;AL355315;AMYH02023612;BC000877;CH471066;NM_021732 AAG17261;AAG44474;AAH00877;ABM82691;ABM85875;BAD96213;BAD96819;EAW49904;EAW49905;NP_068378;Q5T686 Hs.23918 2140089 WI-11858 PP5395;RP11-548K23.7;VIP32;VIT32 AVP-induced protein 1;OTTHUMP00000020225;arginine vasopressin-induced protein 1;vasopressin-induced transcript protein-coding ENSG00000119986 HGNC:30898 16530 VALIDATED 619562 AVPR1B arginine vasopressin receptor 1B The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008] 1 1 1 q32 179215868 179223067 - 206224283 206231482 + 206109849 206117048 - 1579891;1580863;1300290;61542;2312649;6480464 12399951;14624682;19047484;7624319 10477084;10607899;10858434;11884209;12436935;12736162;15094789;15528211;16710414;16754659;17318384;17909131;18240029;18384079;18577758;19598235;19668115;19874574;20351714;20368512;20472303;22341483;22910476;23068076;23422793;24012103;7805841;7929452;8586456;8636444;9357056;9581826 553 P47901 ABBA01001843;ABBA01001844;AC244035;AF030512;AF101726;AF152238;BX571818;CH471067;D31833;DQ194816;DY317849;EU432111;L37112;NM_000707 AAA65687;AAB84293;AAD17892;AAF33681;AAI56079;AAI57127;ABA03171;ABY87910;BAA06621;EAW91596;EAW91597;NP_000698;P47901 Hs.1372 AVPR V1b;AVPR V3;AVPR3;V1bR OTTHUMP00000034344;antidiuretic hormone receptor 1B;arginine vasopressin receptor 3;pituitary vasopressin receptor 3;vasopressin V1b receptor;vasopressin V3 receptor APPROVED protein-coding HGNC:896 02600 600264 REVIEWED 1345749 AXPC1 ataxia, posterior column 1, with retinitis pigmentosa ASSOCIATED WITH Posterior column ataxia with retinitis pigmentosa (inferred) 7240710 9409377;9921862 559 HGNC:906 609033 1606441 AWAT2 acyl-CoA wax alcohol acyltransferase 2 This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters. [provided by RefSeq, May 2010] X X X q13.1 69613775 69623166 - 69260392 69269788 - 70040542 70049938 - 6480464;6907045 12477932;14970677;15220349;15489334;15671038;16106050;20374941 158835 H0YAL0;Q6E213 ABBA01067524;AL158141;AMYH02039653;AY605053;BC063698;BN000156;CH471132;NG_021246;NM_001002254 AAH63698;AAI46453;AAI53071;AAT68764;CAD89267;EAX05358;NP_001002254;Q6E213 Hs.661507 1701092;2109235 DGAT2L4__4700;RH104173 ARAT;DC4;DGAT2L4;MFAT;WS OTTHUMP00000217280;acyl-CoA retinol O-fatty-acyltransferase;diacylglycerol O-acyltransferase 2-like protein 4;diacylglycerol O-acyltransferase candidate 4;long-chain-alcohol O-fatty-acyltransferase 2;multifunctional O-acyltransferase;retinol O-fatty-acyltransferase APPROVED protein-coding ENSG00000147160 HGNC:23251 16799 300925 REVIEWED 730975 AVPR2 arginine vasopressin receptor 2 This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008] X X X q28 153401665 153406333 + 153167985 153172620 + 153902531 153907166 + 1579891;1580863;734626;1298694;628560;2314013;2314015;2314019;2314016;2314017;2314018;2312654;2312656;6480464;6907045;7240710;8554872;8699517 11091117;11882591;12072411;14624682;17020465;17371330;17550212;17941907;18431594;18489790;18971210;19816050 10477084;10561596;10694923;10749568;10770218;10858434;10880054;11026555;11232028;11476731;11754100;11857925;11868598;11916004;11923476;12036966;12409230;12436935;12473660;12477932;12482593;12900404;12960162;1303257;1303271;1324225;1356229;1415251;14757828;15319430;15319442;1534149;1534150;15452133;15489334;15782186;15872203;16115624;16162341;16240160;16267275;16333859;16563128;16580609;16825342;16845277;17101063;17216256;17229917;17389737;17626156;18048502;18199683;18240029;18288441;18323675;18358546;18578504;18726898;18753429;19086053;19094077;19170711;19179480;19217806;19372219;19440390;19449677;19542240;19638944;19703807;19812297;19913121;19996159;20159941;20237496;20301356;20389105;20403097;20628086;20683494;20974815;21574774;21575724;21917732;22052024;22144672;22145481;22386940;22644838;22879391;22965914;23150186;23236378;23362144;23364801;23604254;23762448;23935101;24556353;24944242;2714800;7560098;7833930;7984150;7987330;7999078;8037205;8045948;8078903;8267567;8479490;8514744;8621513;8735975;8882880;8999963;9224808;9402087;9581826;9711877 554 C9JV81;F8WET1;P30518 ABBA01045342;ABBA01045343;ABBA01045344;ABBA01045345;ABBA01045346;ABBA01045347;AF030626;AF032388;AF101727;AF101728;AMYH02040848;AY242131;BC015746;BC033090;BC041642;BC080603;BC101484;BC112181;BG830436;CH471172;FJ411207;L22206;NG_008687;NG_009645;NM_000054;NM_001146151;NR_027419;U04357;U52112;XM_006724828;Z11687 AAA03651;AAB86428;AAB87678;AAC09005;AAD16444;AAD16445;AAI01485;AAI12182;AAO92298;ACR39021;CAA77746;EAW72783;EAW72784;EAW72785;NP_000045;NP_001139623;P30518;XP_006724891 Hs.567240 1702050;1742845;1743951;1744865;1745481;1745483;1745485;1745487;1745489;1745491;1745493;1745495;1745497;1745499;1745503;1745505;1745507;1745509;1745511;1745513;1745515;1745517;1794474;1801248;1801368;1802534;1802906;1803124;1803260;1803970;1804822;1805584;1805934;1806400;1809558;1812288;1812574;1816456;1817150;1817982;1818872;1819318;1820984;1821048;1821050;1821188;1821592;1821856;1824322;1825200;1825668;1827218;1832980;1835646;1838254;1839594;1843974;1844688;1845140;2033854;2033856;2033858;2033860;2033862;2033864;2033866;2033868;2033870;2033872;2033874;2033876;2033878;2033880;2033882;2033884;2033886;2033888;2033892;2033894;2033896;2033898;2033900;2033902;2033904;2033906;2033908;2033910;2033912;2033914;2033916;2033918;2033920;2033922;2033924;2033926;2033928;2033930;2033942;2033944;2033946;2033948;2033950;2033952;2033954;2033956;2033960;2033962;2033964;2033966;2033968;2033972;2033974;2033976;2033978;2033980;2033982;2033984;2033986;2033988;2033990;2033992;2033994;2033996;2033998;2034000;2034002;2034004;2034006;2034008;2034010;2034012;2034014;2034016;2034018;2034022;2034024;2034026;2034028;2034030;2034032;2034038;2034040;2034042;2034044;2034046;2034048;2034050;2034052;2034054;2034056;2034058;2034060;2034062;2034064;2034066;2034068;2034070;2034072;2034074;2034076;2034080;2034084;2034086;2034088;2034090;2034092;2034096;2034098;2034100;2034102;2034104;2034106;2034108;2034110;2034112;2034118;2034120;2034122;2034124;2034130;2034132;2034134;2034136;2034138;2034148;2034152;2034154;2034156;2034158;2034160;2034162;2034164;2034166;2034168;2034170;2034172;2034174;2034176;2034178;2034180;2034182;2034184;2034186;2034188;2034190;2034192;2034194;2034196;2034198;2034200;2034202;2034204;2034206;2102096;2102098;2116353;2137998 DXS8147;ECD01496;ECD01556;ECD02153;ECD02342;ECD02453;ECD02523;ECD02899;ECD03345;ECD03740;ECD03920;ECD04156;ECD05771;ECD07151;ECD07297;ECD09270;ECD09625;ECD10046;ECD10500;ECD10726;ECD11568;ECD11601;ECD11602;ECD11671;ECD11882;ECD12014;ECD13259;ECD13701;ECD13942;ECD14724;ECD17631;ECD18979;ECD20301;ECD20980;ECD23199;ECD23558;ECD23787;GDB:195164;GDB:210765;GDB:377315;GDB:574063;GDB:618098;GDB:618230;GDB:618289;GDB:618293;GDB:618341;GDB:618400;GDB:618484;GDB:618487;GDB:618831;GDB:618836;GDB:618842;GDB:618846;GDB:618849;GDB:618851;GDB:618866;GDB:619117;GDB:619157;GDB:619161;PMC314363P1;REN87936;REN87937;REN87938;REN87939;REN87940;REN87941;REN87942;REN87943;REN87944;REN87945;REN87946;REN87947;REN87948;REN87949;REN87950;REN87951;REN87952;REN87953;REN87955;REN87956;REN87957;REN87958;REN87959;REN87960;REN87961;REN87962;REN87963;REN87964;REN87965;REN87966;REN87967;REN87968;REN87969;REN87970;REN87971;REN87972;REN87973;REN87974;REN87980;REN87981;REN87982;REN87983;REN87984;REN87985;REN87986;REN87987;REN87989;REN87990;REN87991;REN87992;REN87993;REN87995;REN87996;REN87997;REN87998;REN87999;REN88000;REN88001;REN88002;REN88003;REN88004;REN88005;REN88006;REN88007;REN88008;REN88009;REN88010;REN88011;REN88012;REN88013;REN88014;REN88015;REN88016;REN88017;REN88018;REN88020;REN88021;REN88022;REN88023;REN88024;REN88025;REN88028;REN88029;REN88030;REN88031;REN88032;REN88033;REN88034;REN88035;REN88036;REN88037;REN88038;REN88039;REN88040;REN88041;REN88042;REN88043;REN88044;REN88045;REN88046;REN88047;REN88049;REN88051;REN88052;REN88053;REN88054;REN88055;REN88057;REN88058;REN88059;REN88060;REN88061;REN88062;REN88063;REN88064;REN88065;REN88068;REN88069;REN88070;REN88071;REN88074;REN88075;REN88076;REN88077;REN88078;REN88083;REN88085;REN88086;REN88087;REN88088;REN88089;REN88090;REN88091;REN88092;REN88093;REN88094;REN88095;REN88096;REN88097;REN88098;REN88099;REN88100;REN88101;REN88102;REN88103;REN88104;REN88105;REN88106;REN88107;REN88108;REN88109;REN88110;REN88111;REN88112;RH70970;stSG603678;stSG603679 ADHR;DI1;DIR;DIR3;MGC126533;MGC138386;NDI;V2R AVPR V2;OTTHUMP00000026011;OTTHUMP00000026013;OTTHUMP00000198719;antidiuretic hormone receptor;renal-type arginine vasopressin receptor;vasopressin V2 receptor APPROVED protein-coding ENSG00000126895 HGNC:897 02368 300538;300539;304800 REVIEWED 1343191 AZF1 azoospermia factor 1 ASSOCIATED WITH Spermatogenic Failure, Nonobstructive, Y-Linked (inferred) 7240710 560 HGNC:908 415000 1342951 AZF2 azoospermia factor 2 561 HGNC:909 1605000 AXDND1 axonemal dynein light chain domain containing 1 ASSOCIATED WITH Melanoma (inferred); Nephrotic syndrome, idiopathic, steroid-resistant (inferred); INTERACTS WITH calcitriol 1 1 1 q25.2 152443132 152631501 + 179334855 179523870 + 179365718 179554771 + 6480464;8554872 12477932;14702039;19010793;19536175;19913121;20379614;20628086;24250222 126859 A6H900;B1AM31;D6R9B7;D6RDY4;D6REE1;F5GWM2;Q5T1B0 ABBA01027812;ABBA01027813;ABBA01027814;AK057502;AK058167;AK093460;AK302972;AL160286;AL451075;AL833914;AMYH02002233;AMYH02002234;AMYH02002235;BC146823;BX647935;CH471067;NG_033075;NM_144696;NR_073544;XM_006711157;XM_006711158;XM_006711159;XM_006711160;XM_006711161 AAI46824;BAB71513;BAB71698;BAH13864;CAD38770;CAH10571;EAW91045;EAW91046;EAW91047;EAW91048;NP_653297;Q5T1B0;XP_006711220;XP_006711221;XP_006711222;XP_006711223;XP_006711224 Hs.658505 1682958;1688554;1751427;1763875;1774132;1792462;1792464;2113654;2149907;2190751;2219196 AB072743;AL009566;D6S1233E;NPHS2__6070;PMC151634P5;PMC151634P6;RH92018;SHGC-105252;SHGC-147545;SHGC-75886;UniSTS:265599 C1orf125;DKFZp686H1423;FLJ25438;FLJ32940;RP11-215I23.2 OTTHUMP00000033197;OTTHUMP00000033198;OTTHUMP00000217214;axonemal dynein light chain domain-containing protein 1;hypothetical protein LOC126859 APPROVED protein-coding ENSG00000162779 HGNC:26564 08740 VALIDATED 1349667 AXIN2 axin 2 The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008] 17 17 17 q24.1 60094914 60128039 - 63524681 63557740 - 65528563 65561648 - 1580863;2293188;1643593;6480464;6907045;7240710;8554872;8699517 16488995;18432252 10021369;10049590;10647780;10698523;10966653;11017067;11438668;11474173;11940574;12072559;12183362;12477932;15042511;15304487;15489334;15611123;15766563;16247484;16344560;16432638;16601693;16820935;16941501;17002498;17072303;17143297;17373666;17927870;18330950;18372914;18384130;18676680;18683894;18708403;18755497;18790474;19065536;19119171;19170196;19270026;19336002;19584075;19623616;19625176;19692168;19759537;19816326;19888426;20056645;20128690;20219685;20300119;20403997;20453000;20508983;20613673;20635389;20844743;21069480;21294210;21383061;21541676;21626677;21666490;21706018;21733995;21799911;21890473;22322943;22370446;22745173;22887353;23169889;23393221;23455922;23516639;23602568;23624843;23702820;23812285;23838596;24166197;24299953;24554542;8889548;9566905 8313 E7ES00;F5GX43;J3QKQ7;J3QQJ3;J3QRK4;Q9Y2T1 AB052751;ABBA01029043;ABBA01029044;ABBA01029045;AC115994;AF078165;AF205888;AK025718;AK315303;AMYH02033807;AMYH02033808;BC006295;BC101533;BC143244;BE670767;CB306601;CH471099;CR933657;CX756263;CX759580;DA785881;DA839648;NG_012142;NM_004655;XM_005257719 AAD20976;AAF22799;AAH06295;AAI01534;AAI43245;BAB19762;CAI45956;EAW89003;EAW89004;EAW89005;EAW89006;NP_004646;Q9Y2T1;XP_005257776 Hs.156527 1783540;2217052 AXIN2_3354;SHGC-153718 AXIL;DKFZp781B0869;MGC10366;MGC126582;ODCRCS;axin-2 axin-like protein;axis inhibition protein 2;conductin APPROVED protein-coding ENSG00000168646 HGNC:904 04935 114500;604025;608615 REVIEWED 1323764 AXL AXL receptor tyrosine kinase The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 19 19 19 q13.1 38525268 38567818 + 41725104 41767672 + 41219199 41261767 + 1579938;1580863;1579881;1579882;2325834;2325833;6480464;8554872 10528229;11290560;15619028;16285961;19252414 12029073;12364394;12470648;12477932;12490074;12768229;14565870;14729616;14750094;15130893;15507525;15605394;15733062;15958209;15964779;16344560;16354588;16362042;16556867;1656220;16585512;16641895;16831897;17005688;17255529;1729376;18172262;18345028;1834974;18522535;18620092;18673450;18760998;18840707;19055724;19322201;19541935;19567592;19581412;19633687;19657094;19815557;19888345;19913121;20080645;20088931;20145042;20417630;20442363;20546121;20603615;20628086;20637106;20664904;20818175;20922806;21047970;21057535;21068757;21076472;21132014;21135257;21139048;21317930;21343401;21384080;21496277;21501828;21529875;21555911;21796150;21814748;21822309;21842265;21906983;21963094;21987572;22141136;22156524;22187964;22410775;2247464;22489801;22516347;22751098;22833165;22836088;22844123;22890323;22939624;23000965;23071254;23077658;23117882;23242819;23298489;23318455;23321254;23354874;23361052;23372686;23474758;23523856;23527720;23617806;23629654;23648337;23662598;23684620;23707658;23754286;23921085;23940030;23982172;24064382;24170546;24239956;24333418;24347489;24476074;24567414;24904064;7521695;7822279;7854420;8247543;8381225;8610109;8621659;8889549;8939948;9130617;9178760;9492013 558 M0R0W6;P30530 AA021223;ABBA01040801;ABBA01040802;ABBA01040803;AC011510;AI300772;AI309979;AK309139;AK310881;AL556721;AMYH02036131;AMYH02036132;BC032229;CA437238;CH471126;DA478638;HI464132;HI464134;HY045208;KF456581;KF456582;M76125;NM_001278599;NM_001699;NM_021913;S65125;X57019;X66029;X66030 AAA61243;AAB20305;AAH32229;ABM85043;CAA40338;CAA46829;CBX54237;CBX54238;EAW57022;EAW57023;NP_001265528;NP_001690;NP_068713;P30530 Hs.590970 1742015;1742017;1857077;2138338;2158132;2158134;2158284;2165877;5014019;5119931;5119933;5119935;5119937;5119959;5493856 Axl;D5S2354;GDB:188778;GDB:188779;GDB:188780;GDB:188781;GDB:188782;GDB:188783;GDB:191076;RH11461;RH36144;SHGC-12719;STS-T15634;STS-T27746;STS-W84423 JTK11;UFO AXL oncogene;AXL transforming sequence/gene;oncogene AXL;tyrosine-protein kinase receptor UFO APPROVED protein-coding ENSG00000167601 HGNC:905 00171 109135 REVIEWED 735517 AZGP1 alpha-2-glycoprotein 1, zinc-binding ENCODES a protein that exhibits glycoprotein binding; INVOLVED IN cell adhesion; detection of chemical stimulus involved in sensory perception of bitter taste; retina homeostasis; FOUND IN extracellular space; extracellular vesicular exosome; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3-dimethoxynaphthalene-1,4-dione; 5-aza-2'-deoxycytidine 7 7 7 q22.1 94298908 94308290 - 99564350 99573735 - 99966727 99976112 - 6480464 10206894;10462714;10594376;10737800;11425849;12477932;12690205;12853948;13689030;14718574;14760718;14983038;15084671;15340161;15477100;15620688;15862967;16335952;16341674;16475792;16502470;16598739;16712791;16740002;17724461;18567794;18663996;18930737;18978557;1915885;19188554;1918940;19199708;19351730;19549246;19615732;19622624;19846741;19934249;20070991;20360068;2049092;20581862;20595026;20683033;21139048;21245862;21319273;21432866;21443201;21457004;21790656;21791968;21988832;22118674;22425975;22442679;22498882;22625427;22739111;22935975;23272038;23393224;23423258;23448999;23602568;23634719;23849457;23935945;24114735;24188824;24374959;24778252;3422450;6896906;8241150;8307568;8889548;9114041;9239523;9328826;9813179 563 C9JEV0;H7BZJ8;P25311 AA583051;ABBA01013242;AC004522;AI678968;AMYH02016369;AW015837;BC005306;BC005908;BC014470;BC033830;BM796305;CB148270;CB305376;CH236956;CH471091;D14034;D90427;M76707;NM_001185;X59766;X69953 AAA61311;AAH05306;AAH05908;AAH33830;BAA03123;BAA14417;CAA42438;CAA49574;EAL23862;EAW76621;EAW76622;EAW76623;NP_001176;P25311 Hs.546239 1694988;2143016;2157797 AZGP1;D7S2320;G44707 ZA2G;ZAG Alpha-2-glycoprotein, zinc;OTTHUMP00000024684;OTTHUMP00000210306;Zn-alpha2-glycoprotein;alpha-2-glycoprotein 1, zinc;zinc-alpha-2-glycoprotein;zn-alpha-2-GP;zn-alpha-2-glycoprotein protein-coding ENSG00000160862 HGNC:910 01910 194460 VALIDATED 736564 AXIN1 axin 1 This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2010] 16 16 16 p13.3 537339 602420 - 337440 405244 - 287440 355241 - 1300371;1580863;2293188;6480464;6484113;6907045;7240710;8699517;8554872 10700176;18432252 10228155;10330403;10428961;10488109;10581160;10644691;10698523;10811618;10829020;11157797;11297546;11336703;11438668;11487578;11557983;11719457;11809808;11884395;11955436;11997515;12000790;12036951;12072559;12101426;12138115;12192039;12209999;12223491;12417018;12421363;12477932;12511557;12554650;12555076;12556519;12584189;12717450;12771989;12805222;12820959;12883680;12897152;14534723;14566817;14630927;14970870;15063782;15064706;15262978;15327769;15355978;15489334;15520370;15526030;15579909;15616553;15698401;15981102;16163548;16169070;16188939;16199882;16293619;16601693;16753179;16772034;16773576;16868183;16890161;17018282;17143297;17210684;17318175;17353931;17418091;17510365;17560945;17569865;17588722;17601533;17720811;17768662;18171349;18330950;18514389;18593713;18632848;18708403;18762581;19038973;19107203;19131971;19141611;19202075;19249679;19303846;19331826;19390532;19453261;19513548;19582507;19633924;19731416;19759537;19778269;19913121;20098615;20122174;20128690;20379614;20531388;20628086;20844743;20846493;20858899;21057547;21087614;21242974;21383061;21478859;21502811;21648318;21769465;21795712;21799911;21808024;21902576;21988832;22234612;22270359;22504420;22509369;22524844;22613765;22614067;22682247;22933777;23110995;23192643;23277359;23278310;23455922;23525311;23602568;23671587;23826318;23879168;23915259;23959799;24011952;24419084;24451375;24700460;9054936;9230313;9335612;9482734;9601641;9734785;9920888 8312 H0Y830;O15169 AB208876;ABBA01030376;ABBA01030377;ABBA01030378;AC004652;AC005202;AE006463;AF009674;AMYH02031187;AMYH02031188;AMYH02031189;BC017447;BC035872;BC044648;BX648449;CH471112;DB460285;KF615847;KF615848;KF615849;KF615850;KF615851;KF615852;KF615853;KF615854;NG_012267;NM_003502;NM_181050;XM_005255607;XM_005255608;XM_005255609;XM_005255610;Z69667;Z99754 AAC51624;AAH17447;AAH44648;AAK61224;BAD92113;CAI95589;CAI95590;CAQ09649;EAW85835;EAW85836;NP_003493;NP_851393;O15169;XP_005255664;XP_005255665;XP_005255666;XP_005255667 Hs.592082 1792592;1799648;1800188;1801124;1802026;1802124;1802188;1802862;1803264;1803356;1803396;1803508;1803974;1804698;1805856;1806008;1806010;1806066;1807218;1807504;1808100;1808378;1808804;1808952;1809158;1809244;1809488;1809772;1810124;1810250;1810252;1810344;1810626;1810840;1810924;1811622;1811872;1812166;1812518;1812938;1813320;1813660;1814768;1817666;1819178;1819646;1819726;1820350;1822090;1823128;1823868;1824412;1824722;1824960;1826964;1826966;1827478;1827480;1827892;1828318;1828600;1828772;1828774;1828776;1828880;1829996;1830478;1830568;1830662;1831740;1832950;1837656;1838686;1839350;1840066;1841092;1841334;1841444;1841978;1843594;1843822;1844762;1845382;2048520;2048522;2048524;2048526;2048528;2048530;2048532;2048534;2048536;2048538;2048540;2048542;2048544;2048546;2048548;2048550;2048552;2048554;2048556;2048558;2048560;2048562;2048564;2048566;2048568;2048570;2048572;2048574;2048576;2048578;2048580;2048582;2048584;2048586;2048588;2048590;2048592;2048594;2048596;2048598;2048600;2048602;2048604;2048606;2048608;2048610;2048612;2048614;2048616;2048618;2048620;2048622;2048624;2048626;2048628;2048630;2048632;2048634;2048636;2048638;2048640;2048642;2048644;2048646;2048648;2048650;2048652;2048654;2048656;2048658;2048660;2048662;2048664;2048666;2048668;2048670;2048672;2048674;2048676;2048678;2048680;2048682;2048684;2048686;2048688;2048690;2048692;2048694;2048696;2048698;2048700;2048702;2048704;2048706;2048708;2048710;2048712;2048714;2048716;2048718;2048720;2048722;2048724;2048726;2048728;2048730;2048732;2048734;2048736;2048738;2048740;2048742;2048744;2048746;2048748;2048750;2048752;2048754;2048756;2048758;2048760;2048762;2048764;2048766;2048768;2048770;2048772;2048774;2048776;2048778;2048780;2048782;2048784;2048786;2048788;2048790;2048792;2048794;2048796;2048798;2048800;2048802;2048804;2048806;2048808;2048810;2048812;2048814;2048816;2048818;2048820;2048822;2048824;2048826;2048828;2048830;2048832;2048834;2048836;2048838;2048840;2048842;2048844;2048846;2048848;2048850;2048852;2048854;2048856;2048858;2048860;2048862;2048864;2048866;2048868;2048870;2048872;2048874;2048876;2048878;2048880;2048882;2048884;2048886;2048888;2048890;2048892;2048894;2048896;2048898;2048900;2048902;2048904;2048906;2048908;2048910;2048912;2048914;2048916;2048918;2048920;2048922;2048924;2048926;2048928;2048930;2048932;2048934;2048936;2048938;2048940;2048942;2048944;2048946;2048948;2048950;2048952;2048954;2048956;2048958;2048960;2048962;2048964;2048966;2048968;2048970;2048972;2048974;2048976;2048978;2048980;2048982;2048984;2048986;2048988;2048990;2048992;2048994;2048996;2048998;2049000;2049002;2049004;2049006;2049008;2049010;2049012;2049014;2049016;2049018;2049020;2049022;2049024;2049026;2049028;2049030;2049032;2049034;2049036;2049038;2049040;2049042;2049044;2049046;2049048;2049050;2049052;2049054;2049056;2049058;2049060;2049062;2049064;2049066;2049068;2049070;2049072;2049074;2049076;2049078;2049080;2049082;2049084;2049086;2049088;2049090;2049092;2049094;2049096;2049098;2049100;2049102;2049104;2049106;2049108;2049110;2049112;2049114;2049116;2049118;2049120;2049122;2049124;2049126;2049128;2049130;2049132;2049134;2049136;2049138;2049140;2049142;2049144;2049146;2049150;2049152;2049154;2049156;2049158;2049160;2049162;2049166;2049168;2049170;2049172;2049174;2049176;2049178;2049180;2049182;2049184;2049186;2049188;2049190;2049192;2104592;2104594;2104596;2104598;2104600;2104602;2104604;2104606;2104608;2104610;2104612;2104614;2104616;2104618;2104620;2104622;2104624;2104626;2104628;2104630;2104632;2104634;2104636;2104638;2104640;2104642;2104644;2104646;2104648;2104650;2104652;2104654;2104656;2104658;2104660;2104662;2104664;2104666;2104668;2104670;2104672;2104674;2104676;2104678;2104680;2104682;2104684;2104686;2104688;2104690;2104692;2104694;2104696;2104698;2104700;2104702;2104704;2104706;2104708;2104710;2115804;2122394;2137970;2161675;2165274;2181597;2190091;5105080 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AXIN;MGC52315;PPP1R49;axin-1 OTTHUMP00000067405;OTTHUMP00000067406;axis inhibition protein 1;axis inhibitor 1;fused, mouse, homolog of;gsk-3beta interacting protein raxin;hAxin;protein phosphatase 1, regulatory subunit 49 APPROVED protein-coding ENSG00000103126 HGNC:903 04819 114550;603816;607864 REVIEWED 1605352 AZI2 5-azacytidine induced 2 AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM, Mar 2008] 3 3 3 p24.1 28300308 28327081 - 28363844 28390915 - 28322353 28349424 - 6480464;6907045 10580148;12359729;12477932;14560022;14702039;14743216;15489334;15611223;16344560;17142768;17568778;17982077;18029348;21139048;21903422;21906983;22539786;23286385;24816145;8889548 64343 C9JGA2;C9JVK8;H7C1Z1;Q9H6S1 ABBA01024980;AC098616;AF044917;AF044918;AK025592;AK290637;AMYH02006456;AY151386;BC001139;BC001853;BG777644;BM546093;BM982133;BX327318;BX386357;BX648471;CB995808;CF528511;CH471055;CS185540;DA485515;NM_001134432;NM_001134433;NM_001271650;NM_022461;XM_005265392;XM_005265393 AAF22368;AAF22369;AAO05967;BAB15182;BAF83326;CAJ42721;EAW64392;EAW64393;EAW64394;EAW64395;EAW64396;EAW64397;EAW64398;NP_001127904;NP_001127905;NP_001258579;NP_071906;Q9H6S1;XP_005265449;XP_005265450 Hs.706676 1681076;1852943;2119800;2133748 RH91098;SGC32735;SHGC-36571;STS-H03343 AZ2;NAP1;TILP 5-azacytidine induced gene 2;5-azacytidine-induced protein 2;NAK-associated protein 1;NF-kappa-B-activating kinase-associated protein 1;OTTHUMP00000161132;OTTHUMP00000208432;OTTHUMP00000208433;OTTHUMP00000208434;OTTHUMP00000226938 APPROVED protein-coding ENSG00000163512 HGNC:24002 10577 609916 VALIDATED 1350566 AZGP1P2 alpha-2-glycoprotein 1, zinc-binding pseudogene 2 7 7 7 q22.1 95939923 95942252 - 100930760 100933089 - 101287479 101289808 - 12477932;12853948;8241150;8307568 401393 ABBA01011338;AC006329;AMYH02016406;NG_008494 pseudo HGNC:912 INFERRED 1352190 B2MR beta-2-microglobulin regulator 7061176 568 HGNC:915 109710 1345072 AZU1 azurocidin 1 Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. The protein encoded by this gene is an azurophil granule antibiotic protein, with monocyte chemotactic and antibacterial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 752397 756781 + 827831 832017 + 827831 832017 + 1580863;6480464;8554872 10510329;10534120;10572086;11170199;11861296;11891183;11980855;11994286;12054586;12135665;12351811;12438368;12465046;12477932;12678126;12826073;14515154;15020208;15057824;1518849;15304323;15489334;15879141;17207965;1755383;18346022;18624398;18787642;1897955;19056867;19151333;1919011;19590686;20056178;20083497;20107486;2026172;20399025;2049091;22145905;22207392;2226832;22278372;2312733;2332502;2404977;2406527;2501794;8506327;8621683;9095193;9761855 566 P20160;Q86SR2 ABBA01002601;AC004799;AMYH02035125;BC044940;BC069495;BC093931;BC093933;CH471139;M96326;NM_001700;X58794 AAB59353;AAH44940;AAH69495;AAH93931;AAH93933;ADQ32951;CAA41601;EAW69592;NP_001691;P20160 Hs.72885 1662123;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;STS-M96326 AZU;CAP37;HBP;NAZC AZAMP;HUMAZUR;azurocidin;cationic antimicrobial protein 37;cationic antimicrobial protein CAP37;heparin-binding protein;neutrophil azurocidin APPROVED protein-coding ENSG00000172232 HGNC:913 01221 162815 REVIEWED 1345717 AZGP1P1 alpha-2-glycoprotein 1, zinc-binding pseudogene 1 7 7 7 q22.1 94312859 94319989 + 99578385 99581860 + 99980762 99984237 + 10737800;12477932;22118674;8241150;8307568 646282 ABBA01013242;AC004522;AK307369;AMYH02016369;CH236956;NR_036679;X70169;X70170;X70171;X70172 Hs.721816 pseudo ENSG00000214313 HGNC:911 VALIDATED 731863 AZIN1 antizyme inhibitor 1 The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014] 8 8 8 q22.3 100025705 100063568 - 103838536 103876905 - 102826308 102864169 - 633333;1580863;6480464;7244195;8554872 21849468;9349715 12477932;12878157;14499622;14702039;15489334;15670771;17353931;17900240;18508777;19322201;19920120;20215859;20217058;21139048;21586232;21837750;21906983;21931692;21963094;21988832;22053931;23291631;23844940;25015289;8619474;9110174 51582 E5RIB7;E5RJ16;O14977;U3KQI8 ABBA01037623;ABBA01037624;ABBA01037625;AF070634;AI671875;AK095493;AK290516;AMYH02018539;AP003354;AP003356;AP003696;AU280209;BC013420;BC019279;BC042404;BM716557;BT006858;CH471060;CR456745;D88674;DB092816;NM_001301668;NM_015878;NM_148174;XM_005250969 AAC25391;AAH13420;AAH19279;AAP35504;ABM81650;ABM83131;ABM83132;ABM86326;BAA23593;BAF83205;BAG53068;CAG33026;EAW91851;EAW91852;EAW91853;NP_001288597;NP_056962;NP_680479;O14977;XP_005251026 Hs.459106 1647360;1771550;1848515;2146735;2162206;2162208;2172835 A001V45;G19701;HSC12A042;RH18526;WI-19200;WI-9274;WIAF-1666 AZI;AZIA1;MGC3832;MGC691;OAZI;ODC1L OAZIN;OTTHUMP00000227423;OTTHUMP00000227424;ornithine decarboxylase 1-like;ornithine decarboxylase antizyme inhibitor APPROVED protein-coding ENSG00000155096 HGNC:16432 07443 607909 REVIEWED 735892 B2M beta-2-microglobulin This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014] 15 15 15 q21-q22.2 21893442 21900114 + 45003685 45010357 + 44711487 44718159 + 1601306;1599429;1601309;2311238;2311237;2311236;2311235;2311211;2311212;6480464;6482693;6482692;6482690;6482706;6482701;6482712;6482704;6482705;6482731;6482713;6483039;6482703;6482709;6482710;6484113;6482707;6482685;6907045;7240710;6482315;8554872;8699517 11572996;12567748;1402029;15127324;15446308;15517379;15837577;15957539;16221094;16282467;16549777;16575857;17214095;17634209;18469311;18777138;18795399;19527385;19536607;20015205;21314441;21546482;21797109;22335434;7605592;9067691 10064069;10199391;10221650;10515878;10638746;10731476;10791995;10933786;10948205;11169396;11257307;11502003;11513152;11676539;11738047;11801591;11847272;11849381;11877296;11894933;11914379;11943769;11967566;11967567;12006623;12023961;12085191;12118248;12119416;12192077;12415263;12454016;12464008;12471623;12477932;12480693;12480959;12488093;12516095;12531797;12738401;12818210;12833155;12850147;12860117;12860118;12897781;12911560;12958308;12968074;1390678;1448153;14681859;14698299;14699107;14764708;15185972;15194307;15249659;15304001;15489334;15494406;15498554;15569716;15610257;15616564;15623356;15667222;15723809;15766269;16024039;16046408;16053447;16098535;16108498;16122756;16126222;16169070;16322574;16331970;16375919;16403526;16475820;16491092;16502470;16509252;16511243;16518752;16601119;16704420;16740750;16841247;16846219;16891806;16901902;16919295;17055437;17057332;17108084;17244347;17348447;17373663;1737380;17498802;17499801;17543888;17597407;17618570;17641012;17646174;17681531;17693474;17766066;17852800;17929129;18022010;18024396;18029348;18036353;18046451;18088490;18164932;18211100;18215070;18245532;18257814;18342332;18393655;18424782;18506145;18543331;18568448;18624398;18674763;18695889;18704411;18708068;18713542;18753422;18765525;18781797;18801425;18835253;18835879;18841160;19010783;19017634;19056867;19059216;19136889;19140844;19148137;19232323;19265139;19284997;19393661;19410618;19483161;19518133;19596084;19728333;19754160;19824733;19829086;19874554;19913121;19946888;20028983;20071336;20088607;20089652;20186038;20237496;20335170;20351246;20372847;2038058;20444690;20558175;20587875;20618438;20628086;20662519;20805697;20828817;20831744;21068391;21085635;21086121;21107472;21127468;21131979;21139048;21216953;21220305;21232804;21332340;21376205;21525950;21624083;21699748;21718071;21870705;21919032;21953582;21963094;22065046;22137796;22211248;22307441;22353804;22373550;22475215;22524657;22566695;22577117;22595828;22683352;22693999;22710694;22793795;22797889;22833104;22859396;22895515;2289831;23000961;23123554;23144825;23225003;23225015;23229474;23242610;23329840;23335043;23417110;23518194;23602568;23645685;23648836;23707648;23717383;23728017;23806216;23849305;23859015;23898101;23904325;23911412;23974249;23975166;23991042;24014031;24078632;2413854;24144106;24262149;24272393;24338476;2450918;24753579;24969158;25015289;25095655;2674742;3048575;3060434;3309677;3312414;4586824;6171820;7554280;7862664;8076819;8432869;8619474;8624812;8769474;8805302;9110174;9228302;93026;9545232;9605335;9714695;9751712 567 F5H6I0;H0YLF3;J3KNU0;P61769;Q16446 AB021288;ABBA01039195;AC018901;AC025270;AC122108;AF072097;AI686916;AK026463;AK303560;AK315776;AMYH02030345;AY007153;AY187687;BC032589;BC064910;BU658737;CH471082;CR457066;DQ217933;DQ839493;DQ839494;DQ884406;HH794631;JB415942;JC068862;M17987;NG_012920;NM_004048;S54761;S82297;S82300;V00567;X07621;XM_005254549;XM_006725182 AAA51811;AAB25312;AAD14387;AAD14388;AAD48083;AAG02006;AAH32589;AAH64910;AAO20842;ABB01003;ABI63354;ABI63355;ABI63373;ABM84637;ABM92168;BAA35182;BAG38125;BAG64583;CAA23830;CAG33347;CBX87172;CDH93686;CDL96999;EAW77276;EAW77277;EAW77278;NP_004039;P61769;XP_005254606;XP_006725245 Hs.534255 1725827;1744457;1770875;1791814;1792480;1794512;2162030;2179254;5122349 D15S799;G62079;GDB:454836;PMC126239P1;PMC151806P1;PMC316580P7;RH76;SGC31499;STS-S82300 OTTHUMP00000161912;beta chain of MHC class I molecules;beta-2 microglobulin;beta-2-microglobin APPROVED protein-coding ENSG00000166710 HGNC:914 00189 109700;241600 REVIEWED 9586592 B3GALNT1P1 beta-1,3-N-acetylgalactosaminyltransferase 1 pseudogene 1 2 2 2 p13.3 69675607 69677622 + 69825016 69826083 + 69597884 69598951 + 100128857 ABBA01075507;AC092431;AMYH02004022;NG_030146 pseudo HGNC:51302 INFERRED 9587212 B3GALNT2P1 beta-1,3-N-acetylgalactosaminyltransferase 2 pseudogene 1 6 6 6 q22.33 130858435 130872343 + 130112049 130125957 + 129790904 129804812 + 100130402 ABBA01025907;AL451046;AMYH02014471;NG_011850 pseudo HGNC:51315 INFERRED 1606188 AZIN2 antizyme inhibitor 2 The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. Accumulation of antizyme inhibitor 2 has also been observed in brains of patients with Alzheimer's disease. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014] 1 1 1 p35.1 31816917 31856199 + 33546711 33586132 + 33081110 33120531 + 6480464;6907045;8554872 11587527;11853319;12477932;14702039;14738999;14763899;15489334;16710414;17900240;19718454;19756694;19832840;19956990;20147969;20188728;20217058;24967154 113451 B3KV62;D3DPR0;Q96A70 AB075825;ABBA01023386;AK057051;AK095127;AK122697;AK315677;AL020995;AL832640;AMYH02000727;AW450278;AX505071;AY050634;AY050635;AY050636;AY050637;AY050638;AY325129;BC010449;BC028128;CH471059;DB456925;NM_001293562;NM_001301823;NM_001301824;NM_001301825;NM_001301826;NM_052998;NR_126031;XM_005270404;XM_005270405;XM_005270406;XM_005270407;XM_006710310;XM_006710311;XM_006710312 AAH10449;AAH28128;AAL08049;AAL08050;AAL08051;AAL08052;AAL08053;AAQ62560;ABM82980;ABM86174;BAB71356;BAB85531;BAC04489;BAG38042;BAG53674;CAD48798;EAX07469;EAX07470;EAX07471;EAX07472;EAX07473;EAX07474;EAX07475;EAX07476;EAX07477;EAX07478;EAX07479;EAX07480;EAX07481;EAX07482;NP_001280491;NP_001288752;NP_001288753;NP_001288754;NP_001288755;NP_443724;Q96A70;XP_005270461;XP_005270462;XP_005270463;XP_005270464;XP_006710373;XP_006710374;XP_006710375 Hs.101807 ADC;ARGDC;AZI2;AZIB1;KIAA1945;ODC-p;ODC1L;ODCp ODC antizyme inhibitor-2;ODC-paralogue;OTTHUMP00000004284;OTTHUMP00000004285;OTTHUMP00000004286;arginine decarboxylase;ornithine decarboxylase like;ornithine decarboxylase-like protein;ornithine decarboxylase-paralog APPROVED protein-coding ENSG00000142920 HGNC:29957 17657 608353 REVIEWED 1315510 B3GALT5 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants have been observed for this gene, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2013] 21 21 21 q22.3 26226688 26232244 + 40928369 41034816 + 39556442 39662889 + 1580863;2317558;6480464;6907045;8554872 14555842 10212226;10406968;10580128;10830953;11058588;11337467;12477932;12855703;14534330;14686931;15263012;15489334;16112824;16484342;16780588;17107959;17212986;19136585;19225246;19567891;20494980;21041247;2187500;22001559;22101162;24128890;2541446;2542563;2649653;2829950 10317 Q9Y2C3 AB020337;AB041413;AB041416;ABBA01009331;ABBA01009332;AF064860;AF121897;AF145784;AJ006078;AK292951;AL163280;AMYH02037834;AU100432;AW136254;AY372061;BC104862;BC104864;CH471079;DQ645732;DQ645733;DQ645734;DQ645735;DQ645736;DQ645737;DQ645738;NM_001278650;NM_006057;NM_033170;NM_033171;NM_033172;XM_005260912 AAF07880;AAI04863;AAI04865;AAR08910;BAA77664;BAA94498;BAA94501;BAF85640;CAB90446;CAB91547;EAX09628;EAX09629;EAX09630;EAX09631;EAX09632;NP_001265579;NP_006048;NP_149360;NP_149361;NP_149362;Q9Y2C3;XP_005260969 Hs.733638 2219026;5492851 B3GALT5__4412;UniSTS:483043 B3GalT-V;B3GalTx;B3T5;GLCT5;b3Gal-T5;beta-3-Gx-T5;beta3Gal-T5;beta3GalT5 GlcNAc-beta-1,3-galactosyltransferase 5;OTTHUMP00000109186;UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 5;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5;beta-1,3-GalTase 5;beta-1,3-galactosyltransferase 5;beta-3-galactosyltransferase 5;homolog of C. elegans Bt toxin resistance gene bre-5 APPROVED protein-coding ENSG00000183778 HGNC:920 06818 604066 REVIEWED 1347261 B3GALT2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008] 1 1 1 q31 166257459 166265341 - 193147860 193155743 - 193178730 193186613 - 1580863;6480464;6907045 10580128;11318611;12477932;15489334;16344560;16710414;17207965;18565761;2187500;21988832;2541446;2542563;2649653;2829950;9417100;9582303 8707 O43825 ABBA01027636;AF288390;AK314116;AL390863;AMYH02002383;BC022507;CH471067;CS265714;DA116294;NG_012691;NM_003783;Y15060 AAG60610;AAH22507;ADQ32440;BAG36808;CAA75344;CAJ78385;EAW91251;NP_003774;O43825 Hs.518834 1746457;1847722;2219024 B3GALT2_4411;G64641;SHGC-76070 BETA3GALT2;GLCT2;beta3Gal-T2 OTTHUMP00000033797;UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2;beta-1,3-GalTase 2;beta-1,3-galactosyltransferase 2;beta-3-galt2 APPROVED protein-coding ENSG00000162630 HGNC:917 04313 603018 REVIEWED 1343637 B3GALT4 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34799275 34800960 + 33244917 33246602 + 33277140 33278825 + 1580863;6480464;6907045 10580128;10663566;12477932;14574404;15489334;16169070;16303743;18193043;18565761;19225246;19851445;20594196;21519903;2187500;21900206;21988832;2541446;2542563;2649653;2829950;8889548;9582303 8705 B3KQP5;O96024;Q5STJ7 AB022537;AB026730;ABBA01038139;AF063595;AK075312;AK315647;AL031228;AL662820;AL662827;AL844527;AMYH02013483;BC032574;BU740293;CH471081;CR457093;CR759786;CR759817;FJ525877;NM_003782;Y15061 AAG43154;AAH32574;ABW03296;ABW03644;ACN81315;BAA88988;BAG38014;BAG52107;CAA20230;CAA75345;CAG33374;EAX03700;NP_003773;O96024 Hs.534375 1668110;1685556;1694606;2184242 G43302;RH12439;RH12532;RH77 BETA3GALT4;GALT2;GALT4;b3Gal-T4;gal-T2 OTTHUMP00000029128;UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase;beta-1,3-GalTase 4;beta-1,3-galactosyltransferase 4;beta-3-galactosyltransferase 4;ganglioside galactosyltransferase APPROVED protein-coding ENSG00000235863 HGNC:919 04370 603095 REVIEWED 1312449 B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been described; they all encode the same protein. [provided by RefSeq, Jul 2008] 3 3 3 q25 159223899 159245387 - 160801671 160823160 - 161083883 161105372 - 6480464;6907045;8554872 10580128;10993897;12023287;12477932;12975309;14702039;15142124;15489334;16344560;17207965;18565761;18839200;19264528;2187500;21988832;23599027;23927681;2541446;2542563;2649653;2829950;6425294;8125298;9405390;9582303 8706 B3KTQ4;C9J0F8;C9J6I7;C9J8U7;C9JD16;C9JRV6;C9JXR0;E7EVF0;E7EVS2;O75752;Q49AT3;Q7L9G8;Q8TDY1 AB050855;AB050856;AB060691;ABBA01058790;AC021649;AF132731;AF154848;AF494103;AF494104;AF494105;AF494106;AI093705;AI214215;AK022491;AK095917;AK223439;AMYH02008029;AW151434;AY359049;AY505344;AY505345;AY505346;AY505347;BC028571;BC047618;CH471052;CR457170;DA188324;DB172381;DQ158095;NG_007854;NM_001038628;NM_003781;NM_033167;NM_033168;NM_033169;XM_005247859;XM_005247861;XM_005247862;XM_005247864;XM_006713802;XM_006713803;XM_006713804;XM_006713805;XM_006713806;Y15062 AAF66442;AAF72106;AAH28571;AAH47618;AAM96009;AAM96010;AAM96011;AAM96012;AAQ89408;AAS79228;AAS79229;AAS79230;AAS79231;AAZ67917;ADQ32503;BAB14055;BAB17690;BAB17691;BAB91079;BAD97159;BAG53166;CAA75346;CAG33451;EAW78621;EAW78622;EAW78623;EAW78624;EAW78625;NP_001033717;NP_003772;NP_149357;NP_149358;NP_149359;O75752;XP_005247916;XP_005247918;XP_005247919;XP_005247921;XP_006713865;XP_006713866;XP_006713867;XP_006713868;XP_006713869 Hs.418062 1651717;1681598;1697586;1735320;1853960;2147024 D3S2352;D3S2950E;D3S3949;RH102303;RH94057;SHGC-77497 B3GALT3;GLCT3;GLOB;Gb4Cer;P;P1;beta3Gal-T3;galT3 OTTHUMP00000213972;OTTHUMP00000213973;OTTHUMP00000213974;OTTHUMP00000213975;OTTHUMP00000213976;OTTHUMP00000213978;OTTHUMP00000213979;OTTHUMP00000213980;OTTHUMP00000213981;OTTHUMP00000213983;OTTHUMP00000213984;P antigen synthase;P blood group globoside;UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group);UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1;UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group);UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase;b3Gal-T3;beta-1,3-GalNAc-T1;beta-1,3-GalTase 3;beta-1,3-galactosyltransferase 3;beta-3-Gx-T3;beta3GalT3;brainiac1;galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase;globoside synthase;globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase;udp-gal:betaglcnac beta 1,3-galactosyltransferase, polypeptide 3 APPROVED protein-coding ENSG00000169255 HGNC:918 09119 603094 REVIEWED 1345395 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013] 1 1 1 q42.3 208853777 208911041 - 235610505 235667781 - 235440986 235504481 - 6480464;8699517;7240710;8554872 12477932;14702039;14724282;15489334;16710414;21890473;22268729;23453667;24250222;24285400 148789 Q8NCR0 AB209046;ABBA01033137;AK091497;AK130297;AK311626;AL135928;AMYH02002945;AMYH02002946;AW513183;BC016974;BC029564;BQ221255;CH471098;FO393422;NG_033219;NM_001277155;NM_152490;XM_005273071;XM_006711749;XM_006711750 AAH16974;AAH29564;BAD92283;CAI21727;CAI21728;EAW70026;EAW70027;EAW70028;NP_001264084;NP_689703;Q8NCR0;XP_005273128;XP_006711812;XP_006711813 Hs.498143 1688026;2163340;5015619;5015861;5015961;5020948;5037552;5109281;7185938 D10S16;D11S3114;D15S1477;D1S1425;D8S2279;G35510;RH70688;RH92081 B3GalNAc-T2;MDDGA11;MGC39558 OTTHUMP00000038285;UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2;UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2;UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2;beta 1,3-N-acetylgalactosaminyltransferase-II (MGC39558);beta-1,3-GalNAc-T2;beta-1,3-N-acetylgalactosaminyltransferase II;beta-1,3-galactosaminyltransferase 2 protein-coding ENSG00000162885 HGNC:28596 16533 610194;615181 REVIEWED 1323596 B3GALT1 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008] 2 2 2 q24.3 162284031 162336209 + 168346692 168727366 + 167490182 167870856 + 1580863;6480464;6907045;8554872 10356986;10580128;12477932;12925779;15489334;15815621;18565761;2187500;23251661;2541446;2542563;2649653;2829950;9417100;9582303 8708 Q9Y5Z6 AB041407;ABBA01004948;AC016723;AC017070;AC074363;AC105255;AF117222;AMYH02005161;BC101545;BC104813;CH471058;E07739;NM_020981;XM_005246931;XM_006712819 AAD23451;AAI01546;AAI04814;AAY15002;BAA94492;EAX11306;EAX11307;NP_066191;Q9Y5Z6;XP_005246988;XP_006712882 Hs.735833 1338140;2218280;5492973;5494055 B3GALT1_4410;D2S2345;UniSTS:480848;UniSTS:483473 MGC126594;beta3Gal-T1 UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1;beta-1,3-GalTase 1;beta-1,3-galactosyltransferase 1;beta-3-galt1;beta3GalT1 APPROVED protein-coding HGNC:916 04369 603093 REVIEWED 733365 B3GAT1 beta-1,3-glucuronyltransferase 1 The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 11 11 11 q25 131420912 131454041 - 134248398 134281880 - 134378504 134411986 - 6480464;6907045 10526176;10783264;10946001;11788581;11986319;12433688;12477932;12687271;12874601;12883721;14993226;15626024;15879103;16257185;16807373;17035093;17567734;18201430;18383036;18802400;19343046;19564339;19794085;20229169;20525712;20696944;20733159;20950796;21056957;21491089;21908519;21988832;22127595;22310831;22496218;22900004;23287865;23333304;23468834;23637420;24277619;24585893;24740502;24843874;8619474;9110174 27087 Q9P2W7 AB029396;ABBA01031117;AF131769;AK299637;AL834455;AMYH02025835;AP003971;BC010466;CR457098;NM_018644;NM_054025;XM_005271506;XM_005271507;XM_005271508;XM_005271509;XM_005271510 AAH10466;ABM84250;ABM86204;ABM87639;BAA96077;BAH13084;CAD39115;CAG33379;NP_061114;NP_473366;Q9P2W7;XP_005271563;XP_005271564;XP_005271565;XP_005271566;XP_005271567 Hs.381050 1672507;2121695;2185957 STS-Z40857;WI-13607;WI-15127 CD57;GLCATP;HNK1;LEU7;NK-1;NK1 GLCUATP;LEU7 antigen;OTTHUMP00000235432;UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1;glcUAT-P;glucuronosyltransferase P APPROVED protein-coding ENSG00000109956 HGNC:921 06969 151290 REVIEWED 1343351 B3GALT5-AS1 B3GALT5 antisense RNA 1 INTERACTS WITH copper(2+) sulfate; valproic acid 21 21 21 q22.2 26166505 26182180 - 40969074 40984749 - 39597147 39612822 - 6480464 11181995;12036297;12477932;15489334;16344560;20494980 114041 K4DI91;P59052 ABBA01009332;AF064860;AF426266;AF426267;AK129590;AMYH02037834;BC062296;BC080530;BC119737;BC119738;BG751912;CH471079;DA218783;LN608877;LN608879;NR_026542;NR_026543 AAM53522;AAM53523;BAC85189;EAX09633;EAX09634;EAX09635;EAX09636;P59052 Hs.375120 1730867;2168889 D21S1983;D21S397 C21orf88;FLJ26079 APPROVED ncrna ENSG00000184809 HGNC:16424 09847 VALIDATED 2306330 B3GAT3P1 beta-1,3-glucuronyltransferase 3 pseudogene 1 3 3 3 q25.33 158592181 158593614 + 160170156 160171597 + 160452368 160453809 + 11535117 402146 AB049116;ABBA01058796;AC024221;AMYH02008019;NG_005351 5017684 B3GAT3 B3GAT3P;PSIGLCAT-I APPROVED pseudo HGNC:35243 INFERRED 1348026 B3GAT2 beta-1,3-glucuronyltransferase 2 The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008] 6 6 6 q13 71959433 72055143 - 71566914 71667101 - 70861366 70957085 - 1580863;6480464;6907045 11853319;12477932;12522689;14574404;14702039;15039073;15470230;16344560;16897771;19913121;20628086;20950796;21326311;23251661 135152 Q29RV3;Q9NPZ5 AB075843;ABBA01040271;ABBA01040272;AK055248;AK290018;AL121961;AL450320;AMYH02013880;AY070019;AY070110;BC101163;BC101165;BC113995;CH471051;DA782678;NM_080742;XM_006715346 AAI13996;AAL57718;AAL58977;BAB70889;BAB85549;BAF82707;EAW48804;NP_542780;Q9NPZ5;XP_006715409 Hs.713609 1661027;1673583;1689113;1739949;1853331;1855891;2119078;2136715;2138387;2140889 A003B38;D20S768;D6S1180E.1;D6S1220E;D6S1413;RH15822;RH18293;RH75302;SHGC-30828;WI-13200 GLCATS;KIAA1963;MGC138535 OTTHUMP00000016710;UDP-glucuronosyltransferase S;UDP-glucuronyltransferase S;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2;glcAT-D;glucuronosyltransferase S;uridine diphosphate glucuronic acid:acceptor glucuronosyltransferase APPROVED protein-coding HGNC:922 06325 607497 REVIEWED 1604745 B3GALTL beta 1,3-galactosyltransferase-like The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009] 13 13 13 q12.3 12841849 12974020 + 31774112 31906413 + 31199975 31332276 + 6480464;6907045;7240710;8554872;8699517 12477932;12943678;14702039;15057823;15489334;16344560;16899492;16909395;17032646;18199743;18798333;19322201;19796186;20301637;20379614;21067481;21671750;22759511;23455636;23954224;24816145 145173 Q6Y288 AA769548;AB101481;ABBA01010122;ABBA01010123;ABBA01010124;AK094979;AK291273;AL137142;AL138965;AMYH02027808;AMYH02027809;AMYH02027810;AMYH02027811;AMYH02027812;AMYH02027813;AV728071;AY190526;BC031597;BC032021;BC047395;BC068595;BX647932;CH471075;DA290408;DN999521;KF455752;NG_011732;NM_194318;XM_006719768 AAH68595;AAO37647;BAD13528;BAF83962;EAX08483;NP_919299;Q6Y288;XP_006719831 Hs.13205 1675770;1679321;1679886;1681777;1738397;1758261;1858275;2113336;2113374;2113432;2113456;2121319;2135545;5092694 A005Q24;D13S1729;D13S1750;D13S1780;D13S1793;D13S664E;G30975;G32270;RH25845;RH48618;RH92132;RH92545;RH92639;SHGC-147825 B3GLCT;B3GTL;B3Glc-T;Gal-T;beta3Glc-T OTTHUMP00000018218;UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like;beta 3-glycosyltransferase-like;beta-1,3-glucosyltransferase;beta-3-glycosyltransferase-like APPROVED protein-coding ENSG00000187676 HGNC:20207 12513 261540;610308 REVIEWED 9587213 B3GNT2P1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 pseudogene 1 X X X 99662236 99663455 - 99141739 99142958 - 99886741 99887960 - 100422469 ABBA01064233;AL390027;AMYH02040051;NG_026739 pseudo HGNC:51316 INFERRED 1323698 B3GAT3 beta-1,3-glucuronyltransferase 3 The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013] 11 11 11 q12.3 59712332 59719018 - 62382768 62389647 - 62615296 62622175 - 1580863;6480464;6907045;8699517;7240710;8554872 10526176;10842173;10946001;11535117;12477932;12794088;15231747;15489334;15522873;15601778;17207965;17567734;18400750;19199708;19946888;20301725;21763480;21882400;21988832;24816145;9506957;9927678 26229 E9PNA1;E9PQ60;G3V150;O94766;Q5U676 AB009598;ABBA01003230;AJ005865;AK075166;AK297970;AK310200;AK316228;AMYH02024893;AMYH02024894;AP001458;BC007906;BC011173;BC019832;BC071961;CH471076;NG_031863;NM_001288721;NM_001288722;NM_001288723;NM_012200;NR_109991 AAH07906;AAH19832;AAH71961;ADQ32307;BAA34537;BAG60280;BAH14599;CAA06742;EAW74042;EAW74043;EAW74044;NP_001275650;NP_001275651;NP_001275652;NP_036332;O94766 Hs.502759 2109077;2128657;2157835;5014051;5017684 B3GAT3;B3GAT3_9473;D8S2278;ROM1;WI-9219 glcUAT-I GLCATI;OTTHUMP00000236456;OTTHUMP00000236457;OTTHUMP00000236459;Sqv-8-like protein;UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase;beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I);galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3;glucuronosyltransferase I APPROVED protein-coding ENSG00000149541 HGNC:923 07564 245600;606374 REVIEWED 1601928 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) ENCODES a protein that exhibits galactosyltransferase activity; INVOLVED IN cellular protein metabolic process (inferred); O-glycan processing (inferred); post-translational protein modification (inferred); PARTICIPATES IN O-linked glycan biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; arsenous acid; diarsenic trioxide 11 11 11 q13.4 74052931 74060511 + 76745385 76753020 + 77034341 77041973 + 6480464;6907045;8554872 11821425;12477932;15203218;15755813;16344560;19395705 192134 A8K9Q8;E9PJ79;Q6ZMB0 AB073740;ABBA01017441;ABBA01017442;AK127544;AK172863;AK292773;AK313682;AMYH02025130;AP000752;BC025357;BC103908;BC103909;BC103910;CD636501;CH471076;DA437068;DA439499;FP884229;NM_138706 AAH25357;AAI03909;AAI03910;AAI03911;BAB88882;BAC87028;BAD18819;BAF85462;BAG36432;EAW75013;NP_619651;Q6ZMB0 Hs.352622 5015961;5020885 D15S1477;L17791 B3Gn-T6;BGnT-6;IMAGE:4907098;MGC119334;MGC119336;MGC119337;beta-1,3-Gn-T6;beta3Gn-T6 OTTHUMP00000229266;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6;beta-1,3-N-acetylglucosaminyltransferase 6;beta-1,3-N-acetylglucosaminyltransferase protein;core 3 synthase protein-coding ENSG00000198488 HGNC:24141 16534 615315 VALIDATED 1319963 B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013] 1 1 1 p36.33 1413233 1416025 - 1167629 1170421 + 1232249 1235041 + 1580863;6480464;6907045;8699517;8554872;7240710 11551958;12477932;15231747;16710414;19913121;19946888;20628086;21139048;23664117;23664118;24250222;9892646 126792 Q499Z2;Q96L58 ABBA01016023;ABBA01016024;AL162741;AMYH02000083;AMYH02000084;BC015549;BC041621;BC051719;BE249959;BF002665;BG290330;CH471183;NG_030007;NG_033265;NM_080605 AAH51719;AAI60034;EAW56269;NP_542172;Q96L58 Hs.284284 1851909;2185123;5493157 SHGC-74127;SHGC-74129;UniSTS:484488 EDSP2;SEMDJL1;beta3GalT6 GAG GalTII;OTTHUMP00000001756;UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6;beta-1,3-GalTase 6;beta-1,3-galactosyltransferase 6;beta3Gal-T6;galactosyltransferase II;galactosylxylosylprotein 3-beta-galactosyltransferase protein-coding ENSG00000176022 HGNC:17978 12509 271640;615291;615349 REVIEWED 735674 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008] 3 3 3 q28 181406353 181426501 + 182971032 182991179 + 183253244 183273391 + 70806;1580863;6480464;6907045 11283017 11384981;12477932;14702039;15342556;18483624;20734064;21988832;22411838;8889548 84002 C9IYY0;C9J368;C9J5K2;Q9BYG0 AB045278;AB209517;ABBA01058481;ABBA01058482;AC069417;AF368169;AJ304505;AK074235;AK074424;AK091474;AMYH02008283;AX172417;AX394744;AX394746;BC028058;BF001695;BP270576;BU684277;CH471052;NM_032047;XM_005247823;XM_005247824;XM_005247825;XM_005247826;XM_005247827 AAH28058;AAK53403;ABM81996;ABM85178;BAB40940;BAD92754;BAG52370;CAC43634;CAC83093;CAD32047;CAD32048;EAW78333;EAW78334;EAW78335;EAW78336;NP_114436;Q9BYG0;XP_005247880;XP_005247881;XP_005247882;XP_005247883;XP_005247884 Hs.718506 1654658;1686630 RH98948;WI-13813 B3GN-T5;BGnT-5;beta-1,3-Gn-T5;beta3Gn-T5 OTTHUMP00000212932;OTTHUMP00000212935;OTTHUMP00000212936;OTTHUMP00000212937;UDP-GlcNAc:beta-Gal beta-1,3-N-acetylglucosaminyltransferase 5;beta 1,3 N-acetyglucosaminyltransferase Lc3 synthase;beta-1,3-N-acetylglucosaminyltransferase 5;beta-1,3-N-acetylglucosaminyltransferase bGnT-5;lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase;lactotriaosylceramide synthase;lc(3)Cer synthase;lc3 synthase APPROVED protein-coding ENSG00000176597 HGNC:15684 12511 615333 REVIEWED 1319932 B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 63432751 63435069 - 66112843 66115161 - 66345372 66347690 - 1580863;6480464;6907045;8699517;7240710 12477932;15489334;16303743;16344560;19261593;19587235;21139048;21926972;22268729;23080069;23284715;23359570;23877401;8125298;9405606 11041 B4DGI0;O43505 ABBA01024083;AF029893;AK075354;AK098389;AK098779;AK225182;AK293715;AK294604;AMYH02024975;AP001107;BC021965;CH471076;DA169103;DQ066422;NG_033202;NM_006876 AAC39538;AAH21965;AAY46155;ABM83632;ABM86883;BAG52119;BAG57146;BAG57791;EAW74517;EAW74518;NP_006867;O43505 Hs.8526 1671534;1767608 STS-W44699;WI-20154 B3GN-T1;B3GNT6;BETA3GNTI;MDDGA13;iGAT;iGNT N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase;OTTHUMP00000235058;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6;beta-1,3-N-acetylglucosaminyltransferase bGnT-6;i-beta-1,3-N-acetylglucosaminyltransferase;poly-N-acetyllactosamine extension enzyme APPROVED protein-coding ENSG00000174684 HGNC:15685 09270 605517;615287 REVIEWED 1320043 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008] 12 12 12 q24 122277574 122281430 + 122688228 122692677 + 122203681 122207537 + 6480464;6907045 10580128;11042166;12477932;12975309;14702039;16169070;21145461;23263486;24250222 79369 Q9C0J1 AB049586;ABBA01060479;AC048338;AF321825;AJ130848;AJ278962;AK095746;AL834452;AMYH02027416;AY358940;BC030247;BC031399;CH471054;NM_030765 AAH31399;AAL37219;AAQ89299;ABM82210;ABM85395;BAB21532;BAC04622;CAC45045;CAC82375;CAD39112;EAW98308;EAW98309;NP_110392;Q9C0J1 Hs.363315 1666483;1686096;2167553;2186117 D12S1399;D12S1578;NIB962;RH48119 B3GN-T4;BGnT-4;beta-1,3-Gn-T4;beta3Gn-T4 OTTHUMP00000239741;beta-1,3-N-acetylglucosaminyltransferase 4;beta-1,3-N-acetylglucosaminyltransferase bGn-T4 APPROVED protein-coding ENSG00000176383 HGNC:15683 12058 605864 REVIEWED 1313012 B3GNT3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 17807662 17826113 + 17905919 17924385 + 17795110 17813576 + 1580863;6480464;6907045;8554872 10072769;10580128;10737800;11042166;11439191;12477932;12975309;15489334;16303743;16344560;17207965;17827388;20424473;21048031;23300138;24118321;8125298 10331 M0QX58;M0R199;Q9Y2A9 AB015630;AB049585;ABBA01051232;AC008761;AF293973;AJ130847;AJ278961;AK075434;AK075466;AK225421;AK225478;AK314323;AMYH02035714;AW848963;AY358955;BC066876;BC067423;CH471106;DA385410;DB104034;NG_028981;NM_014256 AAH66876;AAH67423;AAK00849;AAQ89314;ADQ32033;BAA76497;BAB21531;BAG36971;BAG52147;CAC45044;CAC82374;EAW84631;NP_055071;Q9Y2A9 Hs.657825;Hs.69009 1338424;1731505;1758999;1778228;2114608;2131958;5019711;5093158;5128169 A009H37;A009I31;D19S386;D19S915;G32554;G32565;SHGC-151107;SHGC-152107;WI-17661 B3GAL-T8;B3GN-T3;B3GNT-3;BGnT-3;HP10328;TMEM3;beta-1,3-GalTase 8;beta-1,3-Gn-T3;beta-3-Gx-T8;beta3Gal-T8;beta3GalT8;beta3Gn-T3;core1-beta3GlcNAcT UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8;beta-1,3-N-acetylglucosaminyltransferase 3;beta-1,3-N-acetylglucosaminyltransferase bGnT-3;beta-1,3-galactosyltransferase 8;core 1 extending beta-1,3-N-acetylglucosaminyltransferase;putative type II membrane protein;transmembrane protein 3 APPROVED protein-coding ENSG00000179913 HGNC:13528 10431 605863 REVIEWED 1603899 B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 17 17 17 q25.3 77497246 77604381 - 80900009 81009686 - 82942131 83051810 - 6480464;8554872 12477932;14702039;15560372;16169070;21890473;21963094;24250222;8619474;9110174 146712 I3L1A1;I3L232;I3L4B6;Q67FW5 ABBA01019711;ABBA01019712;ABBA01019713;AC127518;AC130371;AK054757;AK126018;AMYH02034176;AY304503;AY634364;BC019623;BC035891;BC041588;BC065543;BC110528;BC110529;CH471099;NM_001009905;U79265;XM_006722272;XM_006722273;XM_006722274;XM_006725289;XM_006725290;XR_243519;XR_430780 AAH19623;AAI10529;AAI10530;AAQ74775;AAT47555;EAW89825;EAW89827;EAW89830;NP_001009905;Q67FW5;XP_006722335;XP_006722336;XP_006722337;XP_006725352;XP_006725353 Hs.607824 1649726;1674254;1678599;1710706;1734430;1762063;2152394;2174188 D17S1402E;RH11658;RH15906;RH92242;SHGC-145974;SHGC-32338;SHGC-57794;SHGC-83674 B3GNT8;BGnT-8;MGC126253;MGC126256;beta-1,3-Gn-T8;beta3Gn-T8;beta3GnTL1 BGnT-like protein 1;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1;beta-1,3-N-acetylglucosaminyltransferase 8;beta1,3-N-acetylglucosaminyltransferase-like protein 1;beta3Gn-T-like protein 1 protein-coding ENSG00000175711 HGNC:21727 14071;18527 615337 VALIDATED 1313364 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ENCODES a protein that exhibits protein N-acetylglucosaminyltransferase activity; INVOLVED IN poly-N-acetyllactosamine biosynthetic process; FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; choline (ortholog); dibutyl phthalate (ortholog) 19 19 19 q13.2 38731099 38734479 - 41931264 41934635 - 41425359 41428730 - 1580863;6480464 15486459;15620693;18826941;20963502;21468598;22901175 374907 Q7Z7M8 AB175895;ABBA01040808;AC011462;AJ419172;AMYH02036134;AY277592;NM_198540 AAI56489;AAI72521;AAP34405;BAD86525;CAD11601;NP_940942;Q7Z7M8 Hs.441681 B3GALT7;BGALT15;BGnT-8;beta-1,3-Gn-T8;beta3Gn-T8 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 7;beta galactosyltransferase BGALT15;beta-1,3-N-acetylglucosaminyltransferase 8;beta1,3-N-acetylglucosaminyltransferase 8 protein-coding ENSG00000177191 HGNC:24139 12510 615357 VALIDATED 1320774 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. [provided by RefSeq, Jul 2008] 2 2 2 p15 62267974 62296577 + 62423262 62451866 + 62196127 62224731 + 1580863;6480464;6907045 10580128;11042166;12464682;12477932;12855703;14555842;14686931;14702039;14759258;15489334;15560372;16335952;17207965;18826941;20062062;21890473;21906983;21988832;22446963;24390342;9892646 10678 Q9NY97 AB049584;ABBA01075382;AC018462;AC093401;AF092051;AF288208;AF288209;AJ006077;AK002009;AMYH02003940;BC030579;BC047933;CH471053;NM_006577 AAD09764;AAF97253;AAF97254;AAH30579;AAH47933;AAX93271;ADQ31689;BAA92031;BAB21530;CAB91546;EAW99977;EAW99978;EAW99979;EAW99980;NP_006568;Q9NY97 Hs.173203 1654531;1685738;1767721;2180250;2218282;5092728 A005U48;B3GNT1_4414;G32292;RH45152;RH48653;WI-17834 B3GN-T1;B3GN-T2;B3GNT;B3GNT-2;B3GNT1;BETA3GNT;BGNT2;BGnT-2 OTTHUMP00000159816;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1;beta-1,3-Gn-T1;beta-1,3-Gn-T2;beta-1,3-N-acetylglucosaminyltransferase bGnT-1;beta-1,3-N-acetylglucosaminyltransferase bGnT-2;beta3Gn-T1;beta3Gn-T2 APPROVED protein-coding ENSG00000170340 HGNC:15629 09279 605581 REVIEWED 1603192 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ENCODES a protein that exhibits galactosyltransferase activity (inferred); INVOLVED IN protein glycosylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; pirinixic acid 16 16 16 q22.1 51690248 51693145 - 67182005 67184902 - 67148102 67150999 - 6480464;8554872 12477932;12975309;17110338;19060904;19913121;20628086 84752 Q6UX72;Q7Z4F9 ABBA01025431;AC074143;AF171091;AMYH02032225;AY358485;BC012191;BC022849;BU617330;CF994177;CH471092;NM_033309 AAQ13602;AAQ88849;EAW83079;NP_171608;Q6UX72 Hs.744158 1672105;2162615 D16S2584E;RH44529 BGnT-9;MGC4655;beta-1,3-Gn-T9;beta3Gn-T9 beta-1,3-N-acetylglucosaminyltransferase 9;beta-1,3-galactosyltransferase-related protein protein-coding ENSG00000237172 HGNC:28714 14651 VALIDATED 1354479 B4GALNT2 beta-1,4-N-acetyl-galactosaminyl transferase 2 B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008] 17 17 17 q21.32 43663814 43701663 + 47209822 47247351 + 49132460 49169989 + 1580863;6480464;7240710 11886838;12477932;12678917;14688233;15489334;16024623;17965433;18485915;20379614;23535732;2425965;8782649 124872 Q8NHY0 ABBA01041190;AC069454;AF510036;AJ517770;AJ517771;AK302876;AMYH02033560;AMYH02033561;AMYH02033562;BC113675;BC113677;CH471109;NM_001159387;NM_001159388;NM_153446;S83275 AAI13676;AAI13678;AAM34756;AAN86706;ADR83075;ADR83221;BAG64056;CAD57148;CAD57149;EAW94690;EAW94691;NP_001152859;NP_001152860;NP_703147;Q8NHY0 Hs.374679 1700146;1826366 ECD14296;RH103686 B4GALT;GALGT2;MGC142235;MGC142237 OTTHUMP00000220015;OTTHUMP00000220016;OTTHUMP00000220017;UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase;UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase;beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-GalNAcT;beta-1,4 N-acetylgalactosaminyltransferase 2;beta-4-N-acetylgalactosaminyltransferase;sd(a) beta-1,4-GalNAc transferase;sda beta-1,4-GalNAc transferase APPROVED protein-coding ENSG00000167080 HGNC:24136 13558 111730 VALIDATED 1321569 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 ENCODES a protein that exhibits galactosyltransferase activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); cellular protein metabolic process (inferred); glycosaminoglycan metabolic process (inferred); PARTICIPATES IN keratan sulfate biosynthetic pathway; FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH copper atom; copper(0); valproic acid 2 2 2 q37.1 226036697 226042236 + 232260335 232265875 + 231395624 231401164 + 1580863;6480464;6907045 12061784;14706853;15815621;17690104;23583979 93010 Q8NFL0 ABBA01002057;ABBA01002058;AC017104;AF502430;AK000770;AK126207;AMYH02005966;AMYH02005967;CH471063;NM_145236;XM_005246953 AAI40378;AAI48681;AAM61770;AAY24246;BAG54296;EAW70958;EAW70959;NP_660279;Q8NFL0;XP_005247010 Hs.299329 2218284;5126374 B3GNT7_4416;G10658 BGnT-7;beta-1,3-Gn-T7;beta3Gn-T7;beta3GnT7 OTTHUMP00000204559;beta 1,3-N-acetylglucosaminyltransferase 7;beta-1,3-N-acetylglucosaminyltransferase 7 protein-coding ENSG00000156966 HGNC:18811 12512 615313 VALIDATED 731293 B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 12 12 12 q13.3 57675366 57682800 - 58019678 58027022 - 57623409 57633239 - 1580863;704404;6480464;6907045;7240710;8699517;8554872 10477274;10978536;11018043;12477932;15635080;1601877;16344560;17119850;19318031;19457569;21135695;21906983;23721779;23746551;24103911;8120069;8690719;8702839;8824296 2583 B4DSP5;F8VR44;F8VSE0;F8VU35;F8VW33;F8W1A7;H0YHT1;H0YI57;Q00973;Q59FK0 AB209460;ABBA01026694;ABBA01026695;AC025165;AK127448;AK289690;AK293432;AK299845;AK302503;AMYH02026588;BC029828;CH471054;DA483728;HQ860786;HQ860787;HQ860788;HQ860789;L76079;M83651;NG_033849;NM_001276468;NM_001276469;NM_001478;XM_005268773;XM_006719331 AAA35516;AAH29828;ADZ15711;AEJ36341;AEJ36342;AEJ36343;AEJ36344;BAD92697;BAF82379;BAG56937;BAG61707;BAH13729;EAW97042;EAW97043;NP_001263397;NP_001263398;NP_001469;Q00973;XP_005268830;XP_006719394 Hs.159481 1338201;1339227;2122078;2146340;2151807;2181131 D12S1676;D12S1969;D12S2059;D12S59;RH1607;WI-15888 GALGT;GalNAc-T;SPG26;beta1,4GalNAc-T;beta1-4GalNAc-T (N-acetylneuraminyl)-galactosylglucosylceramide;GALNACT;GD2 synthase, GM2 synthase;GM2/GD2 synthase;OTTHUMP00000243172;OTTHUMP00000243173;UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1;UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T);beta-1,4 N-acetylgalactosaminyltransferase 1;spastic paraplegia 26 APPROVED protein-coding ENSG00000135454 HGNC:4117 03525 601873;609195 REVIEWED 1602277 B4GALNT4 beta-1,4-N-acetyl-galactosaminyl transferase 4 ENCODES a protein that exhibits acetylgalactosaminyltransferase activity; INVOLVED IN metabolic process; FOUND IN Golgi cisterna membrane (inferred); integral component of membrane (inferred); INTERACTS WITH cadmium atom; hydroquinone O-beta-D-glucopyranoside; kojic acid 11 11 11 p15.5 431440 441661 + 369795 382117 + 369795 382117 + 6480464 12477932;14702039;15044014;15146197;18048353;18854154;22722937;22722940 338707 H0YCU7;H0YDW6;Q76KP1 AB089939;ABBA01015176;ABBA01015177;ABBA01015178;AC138230;AK057774;AMYH02024133;AMYH02024134;AMYH02024135;AMYH02024136;BC035906;BC131528;BF058197;CH471158;CN348077;NM_178537;XM_005252891;XM_005252892 AAI31529;BAB71566;BAD06471;EAX02321;NP_848632;Q76KP1;XP_005252948;XP_005252949 Hs.148074 FLJ25045 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1;NGalNAc-T1;OTTHUMP00000147617;beta-1,4-N-acetylgalactosaminyltransferase IV;beta1,4-N-acetylgalactosaminyltransferases IV;beta4GalNAc-T4;beta4GalNAcT4;betaGT4 protein-coding ENSG00000182272 HGNC:26315 08046 VALIDATED 8656180 B4GALT1-AS1 B4GALT1 antisense RNA 1 9 9 33167840 33179980 + 33166948 33179983 + 18487259;23263486 101929639 AB371488;ABBA01065064;AL161445;AMYH02019415;AMYH02019416;HG501965;HG501966;HY028011;HY043002;HY143413;NR_108108;NR_108109;NR_108110 Hs.545818 ncrna ENSG00000233554 HGNC:49910 VALIDATED 6481160 B4GALT4-AS1 B4GALT4 antisense RNA 1 q13.33 16344560 100874201 AC083800;AC092981;DB092185;NR_046574 Hs.721307 APPROVED ncrna HGNC:40090 VALIDATED 1349315 B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008] 9 9 9 p13 33041647 33098362 - 33110636 33167356 - 33110641 33167358 - 1599432;1580863;6480464;6907045;7240710;8699517;8554872 11901181 10580128;10900002;11295846;11506180;11947697;12477932;1384956;15164053;15611127;15668241;16157350;16502470;16675551;16786197;17021253;1714903;18029348;18215327;18314154;18330979;18929424;1903938;19056867;19106107;19204726;19261593;19322201;19946888;20202494;20301507;20360068;20378551;20379614;20467438;20490888;20619088;20655926;20851383;20886274;21139048;2120039;2124683;21750942;2187500;21963094;22740701;22847114;22927297;22939629;22982306;23263486;23382691;23583406;23744354;2541446;2542563;2649653;2829950;3091013;3094506;3098628;3144273;33805;3917437;6121819;7540104;7579794;7744867;8540625;9597550 2683 B4DMM8;P15291;Q86XA6;W6MEN3 A23697;ABBA01065064;ABBA01065065;ABBA01065066;ABBA01065067;ABBA01065068;ABBA01065069;AK296928;AK297541;AK312797;AK316294;AL161445;AMYH02019415;AY864848;BC034244;BC035442;BC045773;BU624063;BX648438;CH471071;D29805;GM603708;HG765099;HG765101;M13701;M22921;M70432;NG_008919;NM_001497;U10472;U10473;U10474;X13223;X14085;X55415;XM_005251440 AAA35935;AAA35936;AAA35937;AAA68218;AAA68219;AAA68220;AAB00776;AAH45773;BAA06188;BAG35657;BAG59480;BAG59940;BAH14665;CAA01685;CAA31611;CAA32247;CAA39073;CAA39074;CAT03462;CDJ98631;CDJ98633;EAW58520;EAW58521;NP_001488;P15291;XP_005251497 Hs.272011 1335482;1342135;1662093;1663499;1717681;1721659;1759683;1774437;1792430;1792774;2121045;2132862;2218286;5022004 A006S33;B4GALT1_4417;D4Ulb4;D9S1705;D9S1788;D9S1845;G59840;PMC150909P1;PMC16394P1;RH122271;RH16521;RH17851;SHGC-150820;SHGC-31076 B4GAL-T1;CDG2D;DKFZp686N19253;GGTB2;GT1;GTB;MGC50983;beta4Gal-T1 OTTHUMP00000021196;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1;beta-1,4-GalTase 1;beta-1,4-galactosyltransferase 1;glycoprotein-4-beta-galactosyltransferase 2;lactose synthase APPROVED protein-coding ENSG00000086062 HGNC:924 00659 137060;607091 REVIEWED 1313336 B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 1 1 1 p34-p33 42728400 42740377 + 44444874 44456843 + 43979202 43991171 + 1580863;6480464;6907045;8554872 10580128;11588157;12107413;12477932;14702039;15489334;15504978;15939404;16710414;17470362;18211920;18565761;19524017;2187500;21988832;2541446;2542563;2649653;2829950;9405390;9597550 8704 O60909 AB024434;ABBA01050934;ABBA01050935;AF038660;AI702508;AK074533;AK095873;AK293418;AL137647;AL139220;AL357079;AL535811;AMYH02000911;AMYH02000912;BC002431;BC096821;BQ222671;CD675528;CH471059;DC386748;NM_001005417;NM_003780;NM_030587;XM_005271304;XM_006711017;Y12510 AAC39733;AAH96821;BAA75819;BAG51967;BAG53152;BAG56925;CAA73112;CAB70857;EAX07062;EAX07063;EAX07064;EAX07065;NP_001005417;NP_003771;NP_085076;O60909;XP_005271361;XP_006711080 Hs.632403;Hs.736507 1662251;1730267;1761635;2124550;2218288;7184711;7187617 B4GALT2_4418;D1S280E;HSCZOA042;SHGC-145624;SHGC-74711 B4Gal-T2;B4Gal-T3;beta4Gal-T2 OTTHUMP00000010008;OTTHUMP00000010009;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2;UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 2;UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 2;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 2;beta-1,4-GalTase 2;beta-1,4-galactosyltransferase 2;beta-4-GalT2;beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 2 APPROVED protein-coding ENSG00000117411 HGNC:925 04928 604013 REVIEWED 1603523 B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3 B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008] 12 12 12 p13.33 2176639 2277425 + 569543 671503 + 460377 561892 + 6480464;8554872 12966086;14702039;15146197;16728562;17579116;18048353;20360844;20379614;22722937;22722940 283358 E9PHD9;Q6L9W6;Q8N9V0 AB089940;ABBA01048847;ABBA01048848;ABBA01048849;ABBA01048850;ABBA01048851;ABBA01048852;AC005844;AC006205;AK093503;AK097681;AK131277;AMYH02025851;AMYH02025852;AMYH02025853;AMYH02025854;AMYH02025855;CH471116;CN400443;KF455576;NM_173593 AAI56654;BAC04187;BAC05141;BAD02449;BAD18454;EAW88962;EAW88963;EAW88964;EAW88965;NP_775864;Q6L9W6 Hs.504416 1338499;1689085;1704820;1733624;1759145;1858038;2183630;5015063 D12S352;D12S994;G41229;RH47453;RH93158;SHGC-151131;SHGC-152167;SHGC-79880 FLJ16224;FLJ40362 B4GalNAcT3;Beta4GalNAc-T3;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2;NGalNAc-T2;OTTHUMP00000159611;beta-1,4-N-acetylgalactosaminyltransferase 3;beta-1,4-N-acetylgalactosaminyltransferase III;beta4GalNAcT3 APPROVED protein-coding HGNC:24137 12514 612220 VALIDATED 1354334 B4GALT3 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 1 q21-q23 134208254 134214467 - 161141100 161147758 - 161171310 161177968 - 1580863;6480464;6907045;8554872 10580128;11588157;12477932;14702039;15489334;16169070;16710414;17613536;18029348;18565761;19199708;2187500;22082156;22268729;23444218;24403309;2541446;2542563;2649653;2829950;9405390;9597550 8703 A8K5Z0;O60512 AB024435;ABBA01016596;AF038661;AK023311;AK056851;AK092493;AK291455;AL590714;AMYH02002032;BC000276;BC006099;BC009985;CH471121;DC339671;NG_011480;NM_001199873;NM_001199874;NM_003779;XM_005245566;XM_006711600;XM_006711601;Y12509 AAC39734;AAH00276;AAH06099;AAH09985;ABM83420;ABM86632;BAA75820;BAB14520;BAF84144;BAG51816;BAG52558;CAA73111;EAW52628;EAW52629;EAW52630;EAW52631;EAW52632;EAW52633;EAW52634;NP_001186802;NP_001186803;NP_003770;O60512;XP_005245623;XP_006711663;XP_006711664 Hs.321231;Hs.741821 1672738;1725645;1848835;2128992;2146481;2150332 A001T06;G62099;RH11845;RH64523;RH64578;RH71218 beta4Gal-T3 OTTHUMP00000032247;OTTHUMP00000032248;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 3;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 3;b4Gal-T3;beta-1,4-GalTase 3;beta-1,4-galactosyltransferase 3;beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 3 APPROVED protein-coding ENSG00000158850 HGNC:926 04929 604014 REVIEWED 1354325 B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009] 5 5 5 q35.2-q35.3 171465093 171475318 - 177027119 177037348 + 177600118 177610347 + 1599433;1580863;6480464;6907045;7240710;8554872;8699517 10473568 10438455;10506123;10580128;10894925;12477932;12975309;14702039;15489334;15522873;16583246;18158310;20691685;20809901;20843813;24052259;3631078 11285 B3KMT1;D6RA33;D6RDJ8;D6RJI5;H0Y9D6;Q9UBV7 AB028600;ABBA01033449;AC139795;AF142675;AJ005382;AK022566;AK023506;AK095882;AK123092;AMYH02012842;AX879363;AY358578;BC007317;BC062983;BC072403;CH471195;CS488894;NG_015977;NM_007255;XM_005265805;XM_006714815;XM_006714816 AAF22225;AAH07317;AAH62983;AAH72403;AAQ88941;ABM83936;ABM87255;BAA83414;BAG51093;BAG51201;BAG53157;CAB56424;CAE90482;CAM55968;EAW84964;EAW84965;NP_009186;Q9UBV7;XP_005265862;XP_006714878;XP_006714879 Hs.455109 2107877;2148552;5016405 B4GALT7_9257;RH78007;SHGC-56917 B4GAL-T7;EDSP1;XGALT-1;XGALT1;XGPT1;beta4Gal-T7;beta4GalT-VII OTTHUMP00000161440;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7;beta-1,4-GalTase 7;beta-1,4-galactosyltransferase 7;beta-1,4-galactosyltransferase VII;galactosyltransferase I;proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I APPROVED protein-coding ENSG00000027847 HGNC:930 05060 130070;604327 REVIEWED 1317330 B4GALT4 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q13.3 117339081 117368232 - 118930589 118959754 - 119211742 119240905 - 6480464;6907045 10580128;11337467;11588157;12477932;12975309;14702039;15489334;18565761;18763123;2187500;2541446;2542563;2649653;2829950;9597550;9792633 8702 B2RAZ5;B3KM35;C9J3R8;C9J4S5;C9J5S0;C9J644;C9JA31;C9JE00;C9JY35;C9JY38;E7ETS9;O60513 AB024436;ABBA01061587;AC083800;AF020920;AF022367;AF038662;AK001006;AK123182;AK301688;AK314425;AL833580;AMYH02007497;AU099090;AY359008;BC004523;BC062618;BX647468;CH471052;CR749555;FJ525878;NM_003778;NM_212543;XM_005247855;XM_005247857;XM_006713798;XM_006713799;XM_006713800;XM_006713801 AAC39735;AAC72493;AAG50147;AAH04523;AAH62618;AAQ89367;ACN81316;BAA75821;BAG37042;BAG50847;BAG63160;CAH18352;EAW79575;EAW79576;NP_003769;NP_997708;O60513;XP_005247912;XP_005247914;XP_006713861;XP_006713862;XP_006713863;XP_006713864 Hs.13225 1712336;2107875;2163750;2165826 B4GALT4_8849;G54077;RH79045;SHGC-77230 B4Gal-T4;beta4Gal-T4 OTTHUMP00000215049;OTTHUMP00000215050;OTTHUMP00000215054;OTTHUMP00000215078;OTTHUMP00000215079;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4;UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 4;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 4;beta-1,4-GalTase 4;beta-1,4-galactosyltransferase 4;beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 4 APPROVED protein-coding ENSG00000121578 HGNC:927 04930 604015 REVIEWED 1603296 B9D2 B9 protein domain 2 This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009] 19 19 19 q13.2 38660483 38669951 - 41860322 41870078 - 41354417 41364540 - 6480464;8699517;7240710;8554872 12477932;16341674;16344560;17127412;17207965;18287022;18936436;19208769;19692168;20301743;21054877;21763481;24250222;8889548 80776 M0QY88;Q9BPU9 ABBA01040805;AC011462;AMYH02036133;BC004157;BC004444;BM833644;BU609059;CH471126;DA196504;NG_013091;NM_030578;XM_006723405 AAH04157;AAH04444;ADQ32833;EAW57034;NP_085055;Q9BPU9;XP_006723468 Hs.567596 ICIS-1;MGC4093;MKS10;MKSR2 B9 domain-containing protein 2;MKS1-related protein 2;involved in cIlia stability-1 APPROVED protein-coding ENSG00000123810 HGNC:28636 14613 611951;614175 REVIEWED 1320747 B4GALT5 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008] 20 20 20 q13.1-q13.2 44954098 45035021 - 48249482 48330421 - 49632945 49713884 - 1580863;6480464;6907045;8554872 10580128;11780052;11827452;12385586;12477932;14702039;15263012;15489334;16461357;17656364;17690104;19322201;20417617;21906983;22687727;23362303;23744354;24250222;9435216;9535717;9597550 9334 O43286;Q8WZ36 AB004550;AB067772;AB871482;ABBA01052750;AF038663;AF289556;AK054803;AK056333;AL035683;AL162615;AMYH02037216;AMYH02037217;BC074821;BC074873;BC104987;BC112265;BG939833;CH471077;DR000345;NM_004776 AAC39736;AAH74821;AAH74873;AAI04988;AAI12266;AAL55740;ADR82962;BAA25006;BAC07182;BAO04294;EAW75653;EAW75654;NP_004767;O43286 Hs.370487 1655665;1685113;1693378;1771024;1856293;2122545;2160079 AL022254;AL034501;RH34;RH47120;RH66750;Z94405;Z94493 B4Gal-T5;BETA4-GALT-IV;MGC138470;beta4Gal-T5;beta4GalT-V;gt-V OTTHUMP00000031806;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5;UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5;beta-1,4-GalT II;beta-1,4-GalT IV;beta-1,4-GalTase 5;beta-1,4-galactosyltransferase 5;beta-1.4-galactosyltransferase V;beta4-GalT IV APPROVED protein-coding ENSG00000158470 HGNC:928 06807 604016 VALIDATED 737376 B4GALT6 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008] 18 18 18 q11 26009322 26071820 - 29202209 29306560 - 31622246 31726593 - 1580863;1300048;6480464;6907045 10320813;10580128;12180132;12477932;12665801;15489334;19451621;2187500;2541446;2542563;2649653;2829950;9597550 9331 G3XA83;J3QQY9;Q9UBX8 AB024742;AB209194;ABBA01022509;ABBA01022510;AC017100;AF038664;AF069054;AF097159;AK314860;AMYH02034511;BC069620;BC069642;BC074835;BC074884;CH471088;NM_004775;XM_005258387;XM_006722578;XM_006722579 AAC21570;AAC39737;AAD41695;AAH69620;AAH69642;AAH74835;AAH74884;BAA76273;BAD92431;BAG37376;EAX01267;EAX01268;EAX01269;NP_004766;Q9UBX8;XP_005258444;XP_006722641;XP_006722642 Hs.591063 1646529;1675656;1685377 RH12056;RH79765;WI-13684 B4Gal-T6;beta4Gal-T6 OTTHUMP00000162821;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6;UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6;beta-1,4-GalTase 6;beta-1,4-galactosyltransferase 6;beta4GalT-VI APPROVED protein-coding ENSG00000118276 HGNC:929 06808 604017 REVIEWED 1602004 B9D1 B9 protein domain 1 This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011] 17 17 17 p11.2 16659306 16678871 - 19240563 19281495 - 19337250 19378182 - 6480464;8699517;7240710;8554872 12477932;15231747;18337471;19208769;20301743;21493627;21890473;21963094;22990118;23000965;24250222 27077 A8MTX4;A8MYG7;B4DN64;H7C3B7;I3L126;I3L2R1;I3L435;J3KSN2;J3QKN6;J3QKV6;Q9UPM9 AB030506;ABBA01054609;ABBA01054610;ABBA01054611;AC124066;AI300844;AK293815;AK297782;AK309320;AMYH02033165;BC002944;BI833202;CH471212;CS072373;NG_031885;NM_001243473;NM_001243475;NM_015681;XM_005256605;XM_005256607;XM_005256608;XM_005256609;XM_005256610 AAH02944;BAA82655;BAG57221;BAG60126;CAI93511;EAW50878;EAW50879;EAW50880;EAW50881;EAW50882;NP_001230402;NP_001230404;NP_056496;Q9UPM9;XP_005256662;XP_005256664;XP_005256665;XP_005256666;XP_005256667 Hs.462445 2138669 STS-W44801 B9;EPPB9;MKS9;MKSR1 B9 domain-containing protein 1;MKS1-related protein 1;OTTHUMP00000065900;OTTHUMP00000065901;OTTHUMP00000065902;OTTHUMP00000065903;OTTHUMP00000065904;OTTHUMP00000065905;endothelial precursor protein B9 APPROVED protein-coding ENSG00000108641 HGNC:24123 16866 614144;614209 REVIEWED 8655302 BAALC-AS1 BAALC antisense RNA 1 8 8 8 q22.3 100364572 100371202 - 104168362 104310998 - 103156990 103172140 - 16344560;17213182 100499183 ABBA01037631;AC025370;AK125733;AK311189;AMYH02018541;DA226722;DA333188;DT217610;HG501547;HG501549;HG501556;NR_109954 Hs.654812;Hs.733366 ncrna ENSG00000247081 HGNC:50461 VALIDATED 736795 BAALC brain and acute leukemia, cytoplasmic This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008] 8 8 8 q22.3 100339760 100429361 + 104152921 104242533 + 103140693 103230305 + 632264;6480464 11707601 12477932;14702039;15489334;15604894;15749074;16189514;17646667;18029348;18378853;18671757;18752846;19555438;19943049;20065290;20306678;20495894;20535151;20841507;21835957;21967978;22197554;22488406;22493267;22529287;23275563;23287429;23647058;23672350;23760853;23865362 79870 Q8WXS3 ABBA01037630;ABBA01037631;AC025370;AF363578;AF371319;AF371323;AK022077;AK093819;AMYH02018541;AP003550;BC011517;BC014365;BC035038;BI548687;CH471060;NM_001024372;NM_024812 AAH11517;AAH35038;AAL50377;AAL50378;AAL50379;AAL50380;AAL50381;AAL50382;AAL50515;AAL50519;ABM84244;ABM87632;BAB13960;EAW91862;EAW91863;EAW91864;EAW91865;NP_001019543;NP_079088;Q8WXS3 Hs.533446 1688243;1699054;1715595;1727095;1740189;1764079;2140984;2165994;2171061 D8S1390E;D8S1692;D8S1977;G62950;RH103102;RH120941;RH98648;SHGC-147735;STS-AA018831 FLJ12015 OTTHUMP00000227493;OTTHUMP00000227494;OTTHUMP00000227495;brain and acute leukemia cytoplasmic protein APPROVED protein-coding ENSG00000164929 HGNC:14333 09422 606602 REVIEWED 4144528 BAATP1 bile acid CoA: amino acid N-acyltransferase pseudogene 1 9 9 9 q31.1 74609971 74615238 - 104096374 104101629 - 101334092 101339347 - 17116739;18538142;20210993 347275 ABBA01042875;AC216089;AL359893;AMYH02021352;NG_023464 1339902;1759121 D9S1690;SHGC-152828 FLJ20300 ACNATP pseudo HGNC:34504 INFERRED 1350115 BACE2 beta-site APP-cleaving enzyme 2 This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 21 21 21 q22.3 27737910 27846710 + 42539728 42654461 + 41167801 41282534 + 1580863;6480464;6907045 10591213;10605825;10677483;10683441;10749877;10830953;10838186;10931940;10936190;10965118;11083922;11316808;11423558;11741910;12054559;12093293;12135764;12423367;12477932;12611455;12618121;12665519;12707937;12801932;12895444;12975309;14684825;14702039;15178331;15473697;15489334;15857888;16023140;16305800;16757811;16757812;16816112;16965550;17113083;17307738;17511655;18163181;18781797;18976975;19124009;19240061;19840121;19913121;19968762;20494980;20628086;20943756;21907142;21963094;22986058;23324234;23754390;23903356;8764598 25825 Q9Y5Z0 ABBA01044663;ABBA01044664;ABBA01044665;ABBA01044666;AF050171;AF117892;AF178532;AF188276;AF188277;AF200192;AF200342;AF204944;AF212252;AK023647;AK075539;AK292056;AL163284;AL163285;AL773572;AL773575;AL773578;AMYH02037855;AMYH02037856;AY358927;AY429520;AY429521;AY769996;BC014453;BC020582;BQ006998;CH471079;NM_012105;NM_138991;NM_138992 AAD45240;AAD45963;AAF13714;AAF17078;AAF26368;AAF29494;AAF35835;AAF35836;AAG41783;AAH14453;AAQ89286;AAX14808;ABM86342;ABW03781;BAC11682;BAF84745;CAB90458;CAB90554;EAX09611;EAX09612;EAX09613;NP_036237;NP_620476;NP_620477;Q9Y5Z0 Hs.43047;Hs.529408 1648860;1648862;1667036;1674840;1678345;1684762;1685816;1690171;1730704;1730869;1730902;1731168;1752761;1775672;1790639;1794002;1795410;1854823;1854825;2122524;2123100;2127787;2132888;2137294;2182568;2182965;2217758;2220504;5022223;5125160 A005R16;BACE2_712;D21S355;D21S398;D21S418E;D21S53;G20436;G35323;PLAC4_3729;PMC310729P6;RH45177;RH69858;RH76632;RH79591;RH98903;SHGC-106623;SHGC-51917;SHGC-52036;SHGC-52055;SHGC-6869;SHGC-87646;SHGC-87652;SHGC-87653;SHGC-87655;STS-AA035768;STS-T66917;STS_CEB270;UniSTS:483705;WI-11358;WI-17388 ALP56;ASP1;ASP21;BAE2;CDA13;CEAP1;DRAP;asp 1 56 kDa aspartic-like protease;AEPLC;Down syndrome region aspartic protease;OTTHUMP00000109198;OTTHUMP00000109199;OTTHUMP00000109200;aspartic-like protease 56 kDa;aspartyl protease 1;beta secretase 2;beta-secretase 2;beta-site APP cleaving enzyme 2;beta-site amyloid beta A4 precursor protein-cleaving enzyme 2;beta-site amyloid precursor protein cleaving enzyme 2;down region aspartic protease;memapsin-1;membrane-associated aspartic protease 1;theta-secretase;transmembrane aspartic proteinase Asp1 APPROVED protein-coding ENSG00000182240 HGNC:934 05744 605668 REVIEWED 735913 BAAT bile acid CoA:amino acid N-acyltransferase The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q22.3 74636308 74660897 - 104122699 104147287 - 101360417 101385005 - 734629;1580863;69770;6480464;6907045;7240710;8554872;8699517 12704386;7575455 10884298;12239217;12477932;12763038;12810727;15164053;15489334;16712791;17256745;17495420;18029348;18793185;20178365;2037576;20677014;22783059;8034703;8954802 570 Q14032 ABBA01042874;AC216089;AK315347;AL353621;AL359893;AMYH02021354;BC009567;BC039200;BC107424;BG565737;CB154234;CH471105;CR541918;H62757;L34081;NG_009774;NM_001127610;NM_001701 AAC37550;AAH09567;AAI07425;ABM82836;ABM86021;CAG46716;EAW58943;EAW58944;EAW58945;EAW58946;NP_001121082;NP_001692;Q14032 Hs.284712 1672412;1769318;2142406;5106212 D9S1952;RH16182;RH45350;STS-L34081 BAT;FLJ20300;MGC104432 BACAT;OTTHUMP00000021802;bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase);bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase);bile acid-CoA:amino acid N-acyltransferase;bile acid-coenzyme a: amino acid n-acyltransferase;long-chain fatty-acyl-CoA hydrolase APPROVED protein-coding ENSG00000136881 HGNC:932 08376 602938;607748 REVIEWED 1606566 BACE1 beta-site APP-cleaving enzyme 1 Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] 11 11 11 q23.2-q23.3 114314074 114344631 - 117156402 117186972 - 117285686 117316256 - 6480464;6907045 10531052;10574461;10591213;10591214;10656250;10677483;10749877;10801872;10887202;10956649;11021803;11032903;11152683;11234778;11266439;11278841;11466313;11516562;11684351;11714100;11741910;11744168;11847218;11860271;11922623;11953458;12054507;12054559;12093293;12112088;12135764;12206667;12223024;12270690;12354787;12438920;12445809;12471021;12477932;12514700;12535780;12586836;12586838;12618121;12649271;12665519;12707937;12801932;12824768;12857759;12901838;12928915;14507929;14567678;14681914;14699153;14701757;14748006;14748707;14978286;14991462;15034149;15059975;15059977;15080893;15096037;15117318;15197182;15211591;15213451;15234966;15247262;15286784;15451669;15452128;15466887;15485862;15489334;15491607;15584902;15592644;15606899;15615712;15628850;15671026;15749709;15784960;15824102;15857888;15880353;15886016;15931081;16027115;16033761;16181410;16243299;16246054;16249081;16279945;16303743;16342950;16354928;16407538;16449801;16605258;16611980;16679558;16716081;16757811;16769154;16816111;16897184;16908986;16965550;16979658;17113083;17174011;17236572;17293612;17307738;17331621;17409228;17425515;17511654;17576410;17596706;17601350;17699523;17854420;17897958;17961921;18039469;18163181;18177262;18182389;18182766;18255190;18263584;18307033;18353773;18374657;18378702;18393796;18434550;18581272;18587408;18632981;18650447;18660751;18695061;18790604;18798280;18805488;18977241;19011241;19056495;19057901;19074428;19106624;19153172;19196715;19251705;19302194;19344981;19372755;19405102;19429494;19462468;19508864;19682432;19815556;19827607;19889475;19968762;20041192;20066010;20080541;20089133;20127045;20164582;20212127;20236612;20354142;20455082;20468060;20484053;20607864;20685197;20726888;20806954;20849576;20853423;20854419;20930275;20930286;20946940;21209097;21245145;21321391;21354237;21440067;21500352;21565331;21576249;21585286;21642424;21695060;21707077;21712774;21726644;21779381;21795680;21825135;21942621;22045484;22052506;22122287;22122349;22150401;22178568;22194329;22223639;22267734;22275252;22299711;22303960;22306812;22351782;22450048;22491325;22553349;22709416;22721728;22726800;22728099;22775589;22796214;22846573;22879628;22952813;22975420;22988240;23021373;23023105;23024787;23036023;23036978;23048024;23109336;23127467;23142975;23180460;23202730;23312803;23324234;23344193;23504710;23566348;23577068;23596049;23676825;23681056;23701002;23713656;23750206;23820808;23926111;23970038;24081378;24332014;24352696;24368770;24405708;24556009;24646365;24739782;24806670;25100603 23621 B7Z3K2;B7Z3Z4;E9PJG7;H0YDX0;P56817;Q5W9H2;U3KPS1 AB032975;AB050436;AB050437;AB050438;AB089958;AB177847;ABBA01039728;ABBA01039729;AF161367;AF190725;AF200193;AF200343;AF201468;AF204943;AF324837;AF338816;AF338817;AF527782;AK075049;AK296015;AK296535;AL833810;AMYH02025629;AP000892;AY162468;BC036084;BC065492;BM996673;BQ005204;CH471065;CS027018;DC343475;DQ007053;EF444940;KC877486;NG_029372;NM_001207048;NM_001207049;NM_012104;NM_138971;NM_138972;NM_138973 AAF04142;AAF13715;AAF17079;AAF18982;AAF26367;AAF28927;AAH36084;AAH65492;AAK38374;AAK38375;AAM54050;AAM92013;AAO23912;AAY16982;ABM82435;ABM85626;ACA05927;BAA86463;BAB40931;BAB40932;BAB40933;BAC81826;BAD66825;BAG52056;BAH12238;BAH12380;CAD38674;CAI61888;EAW67308;EAW67309;EAW67310;EAW67311;EAW67312;EAW67313;EAW67314;EAW67315;EAW67316;EAW67317;NP_001193977;NP_001193978;NP_036236;NP_620427;NP_620428;NP_620429;P56817 Hs.504003 1651212;1669421;1671854;1674127;1736166;1736174;1769026;1795412;2115802;2117593;2117595;2118460;2122852;2135576;2164459;2164461;5093878 A005A12;A005U47;A009Y15;BACE_290;D11S2254E;D11S2277E;D11S2294E;D11S2298E;G20259;G20524;G32977;IB1111;RH12629;RH46256;WI-14206;WI-15498;WI-18163 ASP2;BACE;FLJ90568;HSPC104;KIAA1149;asp 2 APP beta-secretase;OTTHUMP00000218630;OTTHUMP00000218631;OTTHUMP00000218632;OTTHUMP00000218633;OTTHUMP00000218635;OTTHUMP00000218636;OTTHUMP00000235006;OTTHUMP00000235007;aspartyl protease 2;beta-secretase 1;beta-secretase 1 precursor variant 1;beta-site APP cleaving enzyme 1;beta-site amyloid beta A4 precursor protein-cleaving enzyme;beta-site amyloid precursor protein cleaving enzyme 1;memapsin-2;membrane-associated aspartic protease 2;transmembrane aspartic proteinase Asp2 APPROVED protein-coding ENSG00000186318 HGNC:933 07255 604252 REVIEWED 1602893 BABAM1 BRISC and BRCA1 A complex member 1 INVOLVED IN double-strand break repair; positive regulation of DNA repair; protein K63-linked deubiquitination; ASSOCIATED WITH Melanoma (inferred); FOUND IN BRCA1-A complex; BRISC complex; cytoplasm; INTERACTS WITH tert-butyl hydroperoxide; cadmium dichloride (ortholog) 19 19 19 p13.11 17279989 17291905 + 17378200 17390162 + 17267376 17279353 + 6480464;8554872 11042152;11076863;11230166;12477932;15342556;15489336;16189514;16196087;16381901;17353931;19214193;19261746;19261748;19261749;19380743;19572197;19615732;20656689;20852631;20852633;21044950;21139048;21282113;21431873;21890473;21906983;21963094;21987572;22331459;22357538;22505724;22792303;22863883;22939629;22990118;23000965;23535730;23535733;23544013;24667604;8125298 29086 J3KQS6;M0QX07;M0QY17;M0QYV1;M0QZ44;M0R0I0;M0R193;M0R2A4;M0R2I2;M0R2K3;M0R3F4;M0R3H9;Q9NWV8 ABBA01051189;ABBA01051190;ABBA01051191;AC010463;AC104522;AF161491;AI948445;AJ572521;AK000578;AK025970;AK225047;AK301193;AK308590;AL136692;AMYH02035701;BC000788;BC006244;BC091491;BP246573;CH471106;CR533526;CX866662;NM_001033549;NM_001288756;NM_001288757;NM_014173 AAF29106;AAH00788;AAH06244;AAH91491;BAA91268;BAG62773;CAB66627;CAG38557;CAL38513;CAL38600;EAW84584;EAW84585;NP_001028721;NP_001275685;NP_001275686;NP_054892;Q9NWV8 Hs.190722 1665927;1773023;1847602;2175025 A002Q23;RH11746;SGC31836;WI-11438 C19orf62;FLJ20571;HSPC142;MERIT40;NBA1 BRCA1-A complex subunit MERIT40;BRISC and BRCA1-A complex member 1;mediator of RAP80 interactions and targeting subunit of 40 kDa;mediator of Rap80 interactions and targeting 40 kDa;new component of the BRCA1 A complex;new component of the BRCA1-A complex;new component of the BRCAA1 A complex APPROVED protein-coding ENSG00000105393 HGNC:25008 13702 612766 VALIDATED 6481039 BACH1-IT2 BACH1 intronic transcript 2 (non-protein coding) q21.3 100874322 AA912526;AP000240;NR_046564 Hs.326404 ncrna HGNC:40007 VALIDATED 2881130 BACE1-AS BACE1 antisense RNA 11 11 q23.3 117162062 117162859 + 117291346 117292143 + 10737800;18587408;20507594;21785702 100379571 ABBA01039729;AMYH02025629;AP000892;BF886632;CB960709;NR_037803 Hs.736305 BACE1-AS1;BACE1AS;FJ573250;NCRNA00177 APPROVED ncrna HGNC:37125 614263 VALIDATED 1603174 BAALC-AS2 BAALC antisense RNA 2 8 8 8 q22.3 100332034 100340409 - 104145191 104153570 - 103132963 103141342 - 12477932;21832049 157556 P0C853 ABBA01037630;AMYH02018541;AP003550;BC029562;BC071743;NR_027071 P0C853 Hs.459124 BAALCOS;C8orf56;MGC39526 APPROVED ncrna ENSG00000236939 HGNC:28595 VALIDATED 1349420 BACH1-IT3 BACH1 intronic transcript 3 (non-protein coding) q22.11 54147 AA843704;BX100223 Hs.124532 C21orf8;NCRNA00097 APPROVED ncrna HGNC:16455 1352744 BACE2-IT1 BACE2 intronic transcript 1 (non-protein coding) q22.2 282569 AI189527;AL773572;HG511839 Hs.472492 C21orf75;NCRNA00228;PRED43 APPROVED ncrna HGNC:16024 1315457 BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009] 21 21 21 q22.11 15854335 15917330 + 30671151 30734257 + 29298804 29411809 + 1580863;6480464;7240710;8554872 10669750;10830953;11069897;11301010;12477932;12511571;14504288;14660636;15068237;15068251;15125843;15175654;15242590;15464985;15465821;15489334;15613547;15734732;15809329;16341674;16391231;16530877;16724942;16771696;16780588;16964243;17065227;17525340;17664283;17682061;17881434;18029348;18550526;19011633;19064572;19369211;19591297;19618874;19822148;19874887;20127796;20159562;20345481;20360068;20978114;21139048;21555518;21812759;21988832;22032289;22158540;22289179;22307849;22589738;22698995;22875853;23455180;23455922;23602568;23661758;23737527;23738048;24035498;24351291;24366869;24395801;24613679;8887638;8889548;9479503;9544839 571 C9IYH8;C9IYR0;C9JMP6;F8VZL7;H7C4B6;M0QZP0;O14867;Q6ICU0 AA402241;AB002803;ABBA01057257;AF026199;AF026200;AF124731;AF317902;AF317903;AI336948;AK291021;AK313791;AL163249;AMYH02037693;AP000240;AP001705;BC063307;BM837454;BU933041;CF890820;CH471079;CR450303;DB524401;HG511706;KC877841;KC877852;KF457186;KF457191;KF511368;NG_029658;NM_001186;NM_206866;NR_027655;XM_005261012;XM_005261013;XM_005261014;XM_006724034;XR_430352;XR_430353;XR_430354 AAB84100;AAB84101;AAD14689;AAH63307;AAK08197;ABZ91995;BAA24932;BAA95505;BAF83710;BAG36528;CAB90435;CAG29299;EAX09913;EAX09914;NP_001177;NP_996749;O14867;XP_005261069;XP_005261070;XP_005261071;XP_006724097 Hs.154276 1733188;2167574;2187420 D21S1421;SHGC-30877;SHGC-87534 AP000240.4;BACH-1;BTBD24;HA2303 BTB and CNC homolog 1;OTTHUMP00000096563;OTTHUMP00000096564;basic region leucine zipper transcriptional regulator BACH1;transcription regulator protein BACH1 APPROVED protein-coding ENSG00000156273 HGNC:935 04127 114480;602751;609054 REVIEWED 735541 BAD BCL2-associated agonist of cell death The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 61364184 61379075 - 64037300 64052176 - 64269828 64284704 - 1580863;1300048;1579966;2292690;2292693;2292697;2314029;2292699;2292694;2292681;2292675;2292674;2292676;2292677;2292680;2292685;2292700;2292673;2292679;6480464;6484113;6907045;8554872 11781193;15339931;15345971;15625305;15632274;15851405;15941375;15968425;16103353;16944316;17004114;17607361;17870134;18078455;18198484;18347331;19641503 10195903;10381646;10407019;10521512;10558990;10579309;10611223;10620799;10811615;10837486;10837489;10880354;10949025;10949026;11077446;11206074;11278245;11410287;11483855;11494146;11500364;11544290;11583631;11689886;11697890;11717309;11739707;11742726;11839683;11878929;11908866;11994280;12084714;12087097;12115603;12137781;12239175;12376548;12477932;12657644;12754297;12787561;12842996;12897128;12931191;12954615;12965220;14702039;14767529;14967141;15033904;15078178;15131699;15183529;15226424;15231831;15280438;15489334;15574335;15694340;15705582;15721256;15722337;15731037;15751984;15767261;15784622;15849194;15901741;15978696;15990872;15998799;16148027;16189514;16297499;16403219;16413544;16445909;16484005;16603546;16697956;16710454;16728406;16767165;16785131;16843435;16847055;16908594;16932738;16949642;16978419;17011751;17110373;17270021;17274640;17287851;17289999;17393317;17404594;17420275;17438366;17446862;17457084;17474147;17499381;17541305;17544220;17557568;17670745;17696955;17696989;17900801;17927446;17979178;18006502;18029348;18165867;18246127;18276761;18309324;18387192;18391004;18402774;18402937;18420586;18449891;18508762;18508827;18568448;18593990;18628207;18636124;18651163;18651222;18676776;18775810;18798227;18832722;18852119;18973553;19168699;19171933;19508210;19587239;19593445;19624871;19641507;19667065;19679565;19730683;19773546;19882362;19895838;19913121;20012528;20043968;20339252;20596645;20618440;20628086;20647330;20691103;20700721;20810912;20855536;20877624;20936779;21076048;21081150;21187157;21302807;21317286;21419810;21444773;21674599;21849418;21900206;21918885;21988832;22011203;22057915;22096607;22172950;22214866;22423221;22464442;22805310;22837380;23135712;23383273;23547889;23794242;23811558;24038028;24040284;24247158;24255178;24421315;7834748;8929531;8929532;9130713;9305851;9369453;9381178;9388232;9389483;9463381;9651683;9824152;9878060;9973195 572 A8MXU7;F5GYS3;F5H1R6;F5H3B1;Q92934 AB451254;AB451378;ABBA01003295;ABBA01003296;AF021792;AF031523;AK023420;AK291863;AK303051;AK309150;AMYH02024932;AP001453;AW014069;BC001901;BC095431;BE255791;BG435829;BG748336;BT006678;CH471076;CR541935;CR541959;NM_004322;NM_032989;U66879 AAB36516;AAB72092;AAB88124;AAH01901;AAH95431;AAP35324;ABM86710;ABW03814;BAF84552;BAG64171;BAG70068;BAG70192;CAG46733;CAG46757;EAW74233;EAW74234;EAW74235;EAW74236;NP_004313;NP_116784;Q92934 Hs.370254 1663658;1675935;1682287;1686174;1793554;2112100;2180477;2217054;5037552 BAD_2670;D11S4747;D8S2279;PMC230316P4;RH27709;RH78541;RH80230;RH80521;SHGC-64070 BBC2;BCL2L8;bcl2-L-8 BCL-X/BCL-2 binding protein;BCL2-antagonist of cell death;BCL2-binding component 6;BCL2-binding protein;OTTHUMP00000165928;OTTHUMP00000165929;bcl-2 associated death agonist;bcl-2-binding component 6;bcl-2-like protein 8;bcl-XL/Bcl-2-associated death promoter;bcl2 antagonist of cell death APPROVED protein-coding ENSG00000002330 HGNC:936 04409 603167 REVIEWED 1319503 BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 ENCODES a protein that exhibits RNA polymerase II distal enhancer sequence-specific DNA binding (inferred); RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-anisomycin; arsenous acid; cyclosporin A 6 6 6 q15 91056791 91427144 - 90636247 91006627 - 89926528 90296908 - 1580863;6480464;8554872 10669750;10809773;10949928;11746976;11923289;12477932;12829606;14574404;14982850;15060166;15146197;16344560;16832351;17018862;17044046;17262715;17383980;17620599;17991429;18256039;18769450;18840781;18929412;18978792;19073967;19430480;19850743;20125193;20190752;20203524;20379614;20647273;21102463;21145461;21412927;21829393;21833088;21841780;22194330;22561518;22589738;22858985;22899287;23128233;23251661;23273568;23382691;23661758;23852341;23865571;23936317;24022229;24075570;24346624;24450488;24608439;24968937;8887638 60468 Q7Z6Q0;Q9BYV9 AA885077;AB208889;ABBA01040546;ABBA01040547;ABBA01040548;AF357835;AI524722;AJ271878;AK309526;AL117342;AL121787;AL121941;AL158136;AL159164;AL353692;AL512739;AMYH02014093;AMYH02014094;AMYH02014095;AMYH02014096;AMYH02014097;AMYH02014098;BC070239;CH471051;CN261405;DB077323;DB240991;HE578164;HE578165;HE578166;HE578167;HE578168;HE578169;HE578170;HE578171;HE578172;HE578173;HE578174;HE578175;HE578176;HI573894;NM_001170794;NM_021813;XM_005248758;XM_005248759;XM_006715545 AAI66613;AAK48898;BAD92126;CAC28130;CBX47436;CCD17753;CCD17754;CCD17755;CCD17756;CCD17757;CCD17758;CCD17759;CCD17760;CCD17761;CCD17762;CCD17763;CCD17764;CCD17765;EAW48530;EAW48531;EAW48532;EAW48533;EAW48534;NP_001164265;NP_068585;Q9BYV9;XP_005248815;XP_005248816;XP_006715608 Hs.269764 1298111;1645990;1646943;1667667;1673765;1699082;1700886;1715697;1719763;1719777;1731403;1739079;1757687;1849489;2126107;2129817;2132948;2178674;2181219;2218290;5093886;7185100 A008R03;A009Y20;BACH2_4426;D6S1351;D6S1506;D6S366;D6S462;G17026;G17078;G32982;RH103117;RH104070;RH119295;RH123573;RH123580;RH16500;RH37451;RH65350;SGC34793;SHGC-146246;SHGC-34604 BTBD25 BTB and CNC homolog 2;OTTHUMP00000016867;OTTHUMP00000016868;transcription regulator protein BACH2 protein-coding ENSG00000112182 HGNC:14078 12012 605394 VALIDATED 1343744 BAG2 BCL2-associated athanogene 2 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008] 6 6 6 p12.1-p11.2 58700203 58713112 + 57037104 57050013 + 57172306 57185215 + 1580863;6480464;6907045 11076863;11230166;11256614;12477932;14574404;14702039;15271996;15489334;15489336;16159877;16169850;16196087;16207813;16344560;16381901;17110338;17203973;17353931;17569659;18457437;19156129;19738201;19875381;20020773;20547759;21081666;21139048;21145461;21906983;21963094;21987572;22365833;22451720;22505724;22863883;22912744;23000965;23275444;23349634;23383273;23398456;23402259;23438482;23443559;23667531;23752268;23824909;23956138;24244333;24255178;24318877;24332808;24383081;24513209;24811749;24816145;25015289;25036637;9873015;9873016 9532 A2A296;O95816 ABBA01050484;AF095192;AK001015;AK023735;AK301934;AL031321;AL050287;AL136311;AMYH02013783;BC125039;CA442969;CH471081;CR533496;DA874388;NM_004282;XM_005249490 AAD16121;AAI25040;BAG50848;BAG51221;BAG63354;CAB43388;CAG38527;CAL37573;CAL37883;EAX04475;NP_004273;O95816;XP_005249547 Hs.745046 1688779;1694200;1775286;2107879 AL035194;BAG2_7951;RH46599;SHGC-34200 BAG-2;KIAA0576;MGC149462;dJ417I1.2 BAG family molecular chaperone regulator 2;BAG-family molecular chaperone regulator-2;OTTHUMP00000016668;bcl-2-associated athanogene 2;dJ417I1.2 (BAG-family molecular chaperone regulator 2) APPROVED protein-coding HGNC:938 04859 603882 REVIEWED 1313091 BAG1 BCL2-associated athanogene The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010] 9 9 9 p12 33182605 33194897 - 33252469 33264759 - 33252471 33264761 - 1580863;2292908;2296021;2293888;2293886;2293889;2293885;6480464;6907045 10047462;11181661;12215270;15297164;17503439;18430249 10467399;10477749;10671488;10816573;10967105;11076863;11101523;11222862;11231577;11256614;11257006;11278763;11340068;11520069;11676916;11741305;11994280;12049201;12297498;12402153;12421809;12477932;12724406;12845674;12853476;12874020;14517289;14532969;14680805;14702039;14978028;15075668;15169918;15199607;15309313;15489334;15489336;15538384;15603737;15707960;15831476;15843891;15986447;16042572;16207813;16292491;16381901;16398049;16457154;16482527;17278878;17549665;17657847;17662274;17693608;17700523;17950682;17954934;18029348;18204076;18388150;18413740;18523358;18684711;18805052;18822299;19060904;19066611;19151744;19229298;19243896;19293798;19317853;19546472;19595997;19778524;19800331;19881545;19913121;20096920;20156966;20237496;20404511;20409521;20628086;20675402;20819778;20855536;20858459;21036726;21157029;21195059;21522149;21809033;21890473;21986497;21988832;22016818;22179630;22439756;22454210;22863883;22939115;22939629;23000965;23023342;23049684;23059827;23108401;23178238;23271418;23322525;23493285;23553841;23708800;23852223;24061638;24250222;24318877;24454860;24523409;24811749;25036637;7834747;8125298;8524784;8692945;8812483;8889548;8947043;9305631;9396724;9565586;9582267;9603979;9642262;9679980;9747877;9774640;9873016 573 C9J9Y9;C9JYK5;F1LLU6;J3QTA2;Q99933 ABBA01065064;AF022224;AF116273;AK093238;AK096038;AK222749;AK316577;AL161445;AL356472;AMYH02019416;AMYH02019417;BC001936;BC014774;BG723775;CH471071;CN478628;NG_029018;NM_001172415;NM_004323;U46917;Z35491 AAC34258;AAD11467;AAD25045;AAH01936;AAH14774;BAD96469;CAA84624;CAL37446;EAW58514;EAW58515;EAW58516;EAW58517;NP_001165886;NP_004314;Q99933 Hs.377484 1735932;1777155;2123336;2137726;2154720;2183285;5015881;5124315 A002S09;D9S1064E;GDB:335751;RH18169;RH47281;RH69938;STS-S83171;STS-Z35491 BAG-1;HAP;RAP46 BAG family molecular chaperone regulator 1;Bcl-2 associating athanogene-1 protein;Bcl-2-binding protein;OTTHUMP00000021198;OTTHUMP00000021199;bcl-2-associated athanogene 1;glucocortoid receptor-associated protein RAP46;receptor-associated protein, 46-KD APPROVED protein-coding ENSG00000107262 HGNC:937 03292 601497 REVIEWED 1350570 BAG4 BCL2-associated athanogene 4 The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011] 8 8 8 p11.23 36986642 37021084 + 38034106 38070819 + 38176588 38213301 + 1580863;2292150;2325852;6480464;6484113 10799310;12655295 10508612;11527400;11909948;12017295;12058034;12477932;12706861;12875962;14559896;15489334;17178857;17366557;17605853;18029348;19322201;19913121;20628086;20855536;21139048;21145461;23190898;23341456;24250222;24778252;25036637;8889548;9873016;9915703 9530 H0YBT1;O95429 ABBA01023544;ABBA01023545;ABBA01023546;ABBA01023547;ABBA01023548;AC084024;AF095194;AF111116;AI640615;AK304072;AK314020;AL049466;AMYH02017826;AMYH02017827;BC000800;BC038505;BM683128;CH471080;NM_001204878;NM_004874 AAD05226;AAD16123;AAH38505;BAG36731;BAG64979;EAW63330;EAW63331;NP_001191807;NP_004865;O95429 Hs.194726 1645448;1684032;1735832;1795414;1856380;1856671;2160331 BAG4_88;D8S1432E;RH25151;RH78257;SGC34731;SHGC-30117;SHGC-56788 BAG-4;DKFZp586O2022;SODD BAG family molecular chaperone regulator 4;BAG-family molecular chaperone regulator-4;OTTHUMP00000225745;OTTHUMP00000225746;bcl-2-associated athanogene 4;silencer of death domains APPROVED protein-coding ENSG00000156735 HGNC:940 04861 603884 REVIEWED 1317192 BAG3 BCL2-associated athanogene 3 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008] 10 10 10 q25.2-q26.2 115141910 115168393 + 121410859 121437331 + 119651347 119677819 + 1580863;2325847;2325848;2325843;6480464;7240710;8554872;8699517 11513873 10597216;10980614;11527400;11591653;12477932;12700638;12706811;12750378;15302935;15489334;15592455;16094384;16189514;16385451;16391524;16859681;16964243;17081983;17164298;17187345;17507989;17623298;17974966;17996194;18006506;18029348;18094623;18286539;18457437;18469860;18821563;19085932;19088197;19111544;19144635;19212330;19229298;19282432;19352495;19615732;19777443;19845507;19850283;19913121;20018251;20060297;20232307;20301486;20301672;20368414;20535599;20605452;20607728;20628086;20723284;20800573;20800603;20811636;20819778;20855536;20884878;20936779;21044950;21139048;21233200;21252941;21302292;21316839;21353195;21361913;21423662;21451574;21459883;21472004;21561597;21683594;21696420;21767525;21850027;21890473;21898660;21903422;21963094;21971866;22020323;22072743;22302993;22310281;22734908;22863883;22939629;22944597;22984599;23000965;23108398;23271418;23341456;23395971;23434281;23553442;23575457;23582692;23667531;23824909;23876161;23978946;24080088;24140207;24286317;24318877;24365746;24623017;24816145;25036637;8125298;9873016 9531 C9JFK9;O95817 ABBA01062888;ABBA01062889;AC012468;AF071218;AF095193;AF127139;AK222800;AK291333;AK313026;AL137582;AMYH02023910;AMYH02023911;BC006418;BC014656;BC107786;CH471066;NG_016125;NM_004281;XM_005270287 AAD16122;AAF26839;AAF69592;AAH06418;AAH14656;AAI07787;ABM84342;ABM87771;BAD96520;BAF84022;CAB70824;EAW49382;EAW49383;NP_004272;O95817;XP_005270344 Hs.523309 1665119;2107881;2148028 BAG3_7950;Bda24g05;D10S2397 BAG-3;BIS;CAIR-1;MFM6;MGC104307 BAG family molecular chaperone regulator 3;BAG-family molecular chaperone regulator-3;BCL2-binding athanogene 3;OTTHUMP00000020599;bcl-2-associated athanogene 3;bcl-2-binding protein Bis;docking protein CAIR-1 APPROVED protein-coding ENSG00000151929 HGNC:939 04860 603883;612954;613881 REVIEWED 1321985 BAG5 BCL2-associated athanogene 5 The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q32.33 84077135 84083397 - 104022881 104029151 - 103556544 103562814 - 1580863;6480464 10048485;12477932;14702039;15489334;15603737;16344560;19001729;19615732;19913121;19946888;20473970;20628086;20819778;20855536;21131737;21139048;21145461;21358815;21988832;22678362;22863883;23000965;23448667;23667531;23891004;24255178;24510904;24816145;25036637;7834747;8125298;9321400;9873016 9529 G3V274;Q9UL15 AA481394;AB020680;ABBA01048422;AF095195;AK001378;AK023145;AK225730;AK225741;AK291312;AL139300;AMYH02029927;BC044216;BC050551;BF941752;BG719955;BI561258;CA424706;CH471061;DB022769;DB457402;NM_001015048;NM_001015049;NM_004873 AAD16124;AAH44216;AAH50551;BAA74896;BAF84001;EAW81826;EAW81827;EAW81828;NP_001015048;NP_001015049;NP_004864;Q9UL15 Hs.5443 1648326;1855116;1856677;2217056;5015961 BAG5_3934;D14S1221;D15S1477;RH48083;RH69364 BAG-5 BAG family molecular chaperone regulator 5;BAG-family molecular chaperone regulator-5;OTTHUMP00000246786;OTTHUMP00000246787;OTTHUMP00000246788;bcl-2-associated athanogene 5 APPROVED protein-coding ENSG00000166170 HGNC:941 04862 603885 REVIEWED 1344125 BAGE B melanoma antigen This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL). [provided by RefSeq, Jul 2008] 7 21 p11.1 146528012 146530023 - 11057796 11059817 - 6480464;8554872 12115308;12461691;12477932;12676563;15704127;18541613;20423514;7895173 574 Q13072;Q29RY1 ABBA01003660;AF499647;AF527550;AF527551;AF527552;AF527553;AF527554;BC107038;BC107039;BC113810;NM_001187;U19180 AAC50123;AAI07039;AAI07040;AAI13811;AAO32670;AAO32671;AAO32672;AAO32673;AAO32674;AAP30743;NP_001178;Q13072 Hs.545789;Hs.571595;Hs.624543 2218734;5022578;5022651;5109281;5113787 BAGE__4427;D11S2921;D1S1423;D1S1425;RH79776 BAGE1;CT2.1 B melanoma antigen 1;antigen MZ2-BA;cancer/testis antigen 2.1;cancer/testis antigen family 2, member 1 APPROVED protein-coding HGNC:942 05523 605167 REVIEWED 733092 BAG6 BCL2-associated athanogene 6 This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33205026 33218698 - 31606805 31620953 - 31639028 31660767 - 1580863;6480464;8554872 10390159;11230127;11584289;11587531;12477932;12938929;14574404;14656967;14667819;14960581;15231747;15231748;15302935;15451437;15489334;16169070;16189514;16196087;16344560;16713569;16777091;1684176;16954377;16964243;17081983;17203973;17353931;17403783;17643375;17672918;18055229;18056262;18757527;18765639;18781797;18835879;18852879;18976975;18978787;19018758;19115949;19242354;19357808;19542561;19615732;19654303;19738201;19815544;19836008;19837266;19851445;19913121;19955392;20098615;20106900;20385987;20453000;20516149;20587610;20626023;20628086;20676083;20713601;20800603;21139048;2156268;21636303;21726808;21844665;21890473;21900206;21903422;21906983;21909115;21940994;21963094;21987572;21988832;22053931;22174835;22190034;22285488;22373577;22505724;22558287;22641691;22779921;22797925;22863785;22863883;23000965;23077592;23129660;23246001;23349634;23383273;23455924;23533635;23602568;23665563;23723067;23894747;23900548;24133212;24160817;24583282;24778252;24806960;24811749;24816145;24885147;25036637;2813433;2911734 7917 F6RG75;F6S6P2;F6TC96;F6U1F2;F6U341;F6UR09;F6VEM6;F6WML8;F6X9W3;F6XTU0;H0Y4L1;H0Y583;H0Y710;H0Y759;H0Y7K4;P46379;X6RCT4;X6REW1 ABBA01038083;ABBA01038084;AF129756;AK302695;AK304879;AL662801;AL662847;AL662899;AL670886;AL805934;AMYH02013452;AU134255;BA000025;BC003133;BF515863;BU628873;BX384328;BX511262;BX647244;CH471081;CR354443;CR753842;CR753892;CR759761;CX758454;DB454794;DB459208;DB492350;M33519;M33520;M33521;NM_001098534;NM_001199697;NM_001199698;NM_004639;NM_080702;NM_080703;XM_005249393;XM_005249396;XM_005272880;XM_005272883;XM_005275034;XM_005275037;XM_005275169;XM_005275172;XM_005275292;XM_005275295;XM_005275464;XM_005275468;XM_005275597;XM_005275601;XM_006715192;XM_006715193;XM_006715194;XM_006715195;XM_006715196;XM_006715197;XM_006715198;XM_006715199;XM_006715200;XM_006715201;XM_006715202;XM_006715203;XM_006725509;XM_006725510;XM_006725511;XM_006725512;XM_006725513;XM_006725514;XM_006725515;XM_006725516;XM_006725517;XM_006725518;XM_006725519;XM_006725520;XM_006725725;XM_006725726;XM_006725727;XM_006725728;XM_006725729;XM_006725730;XM_006725731;XM_006725732;XM_006725733;XM_006725734;XM_006725735;XM_006725736;XM_006725835;XM_006725836;XM_006725837;XM_006725838;XM_006725839;XM_006725840;XM_006725841;XM_006725842;XM_006725843;XM_006725844;XM_006725845;XM_006725846;XM_006725923;XM_006725924;XM_006725925;XM_006725926;XM_006725927;XM_006725928;XM_006725929;XM_006725930;XM_006725931;XM_006725932;XM_006725933;XM_006725934;XM_006726025;XM_006726026;XM_006726027;XM_006726028;XM_006726029;XM_006726030;XM_006726031;XM_006726032;XM_006726033;XM_006726034;XM_006726035;XM_006726036;XM_006726113;XM_006726114;XM_006726115;XM_006726116;XM_006726117;XM_006726118;XM_006726119;XM_006726120;XM_006726121;XM_006726122;XM_006726123;XM_006726124 AAA35587;AAA35588;AAD18085;AAH03133;BAB63390;BAG63924;BAG65616;CAI46045;EAX03453;EAX03454;EAX03455;EAX03456;EAX03457;EAX03458;EAX03459;EAX03460;NP_001092004;NP_001186626;NP_001186627;NP_004630;NP_542433;NP_542434;P46379;XP_005249450;XP_005249453;XP_005272937;XP_005272940;XP_005275091;XP_005275094;XP_005275226;XP_005275229;XP_005275349;XP_005275352;XP_005275521;XP_005275525;XP_005275654;XP_005275658;XP_006715255;XP_006715256;XP_006715257;XP_006715258;XP_006715259;XP_006715260;XP_006715261;XP_006715262;XP_006715263;XP_006715264;XP_006715265;XP_006715266;XP_006725572;XP_006725573;XP_006725574;XP_006725575;XP_006725576;XP_006725577;XP_006725578;XP_006725579;XP_006725580;XP_006725581;XP_006725582;XP_006725583;XP_006725788;XP_006725789;XP_006725790;XP_006725791;XP_006725792;XP_006725793;XP_006725794;XP_006725795;XP_006725796;XP_006725797;XP_006725798;XP_006725799;XP_006725898;XP_006725899;XP_006725900;XP_006725901;XP_006725902;XP_006725903;XP_006725904;XP_006725905;XP_006725906;XP_006725907;XP_006725908;XP_006725909;XP_006725986;XP_006725987;XP_006725988;XP_006725989;XP_006725990;XP_006725991;XP_006725992;XP_006725993;XP_006725994;XP_006725995;XP_006725996;XP_006725997;XP_006726088;XP_006726089;XP_006726090;XP_006726091;XP_006726092;XP_006726093;XP_006726094;XP_006726095;XP_006726096;XP_006726097;XP_006726098;XP_006726099;XP_006726176;XP_006726177;XP_006726178;XP_006726179;XP_006726180;XP_006726181;XP_006726182;XP_006726183;XP_006726184;XP_006726185;XP_006726186;XP_006726187 Hs.440900 1786108;2106193;2106195;2142964;2150577;2189745;5491655;5492039 AA900379;D6S2784;K11;MARC_5411-5412:996690356:1;N3_2_3;RH35871;RH71456;SHGC-172531 BAG-6;BAT3;D6S52E;G3 BAG family molecular chaperone regulator 6;HLA-B associated transcript 3;HLA-B associated transcript-3;HLA-B-associated transcript 3;OTTHUMP00000029237;OTTHUMP00000029238;OTTHUMP00000029239;large proline-rich protein BAG6;large proline-rich protein BAT3;scythe APPROVED protein-coding ENSG00000204463 HGNC:13919 00808 142590 REVIEWED 1351944 BAGE3 B melanoma antigen family, member 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 7 21 p11.2 146484599 146528514 - 11020842 11058323 - 8554872 12461691;12477932;12676563;16009131;17803354;7895173 85318 Q86Y29 AF339514;BC101134;NM_182481 AAI01135;AAO32634;NP_872287;Q86Y29 Hs.545789 2149244;2187719;2218734 BAGE__4427;D7S3206;GDB:1318392 CT2.3 B melanoma antigen 3;cancer/testis antigen 2.3;cancer/testis antigen family 2, member 3 protein-coding HGNC:15728 10685 PROVISIONAL 1349446 BAGE2 B melanoma antigen family, member 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH torcetrapib 7 21 21 p 146484599 146528514 - 11020842 11098925 - 10413532 10491615 + 6480464;8554872 12461691;12477932;12676563;12909339;15489334;16963709;17803354;18074101;23936387 85319 Q86Y30 AC244111;AF218570;AF254983;AK292540;BC101132;BC101133;NM_182482 AAI01133;AAI01134;AAI72334;AAL55648;BAF85229;NP_872288;Q86Y30 Hs.545789 1768780;2149244;2187719;2218734 BAGE__4427;D7S3206;GDB:1318126;GDB:1318392 CT2.2 B melanoma antigen 2;cancer/testis antigen 2.2;cancer/testis antigen family 2, member 2 protein-coding HGNC:15723 16535 VALIDATED 1342618 BAGE4 B melanoma antigen family, member 4 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 21 p11.1 10042713 10120796 - 6480464;8554872 12461691;12676563;7895173 85317 Q86Y28 ABBA01136834;AF339515;NM_181704 AAI60157;AAO32635;NP_859055;Q86Y28 Hs.545789 1737403;2137693;2149244;2187719;2218734 BAGE__4427;D13S981;D7S3206;G18004;GDB:1318392 CT2.4;MGC119851;MGC119852;MGC119853;MLL3P B melanoma antigen 4;MLL3 pseudogene;cancer/testis antigen 2.4;cancer/testis antigen family 2, member 4 protein-coding HGNC:15730 16536 PROVISIONAL 1348044 BAGE5 B melanoma antigen family, member 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) cen 8554872 12461691;12676563;7895173 85316 Q86Y27 AF339516;NM_182484 AAI56847;AAO32636;NP_872290;Q86Y27 Hs.545789 CT2.5 B melanoma antigen 5;cancer/testis antigen 2.5;cancer/testis antigen family 2, member 5 protein-coding HGNC:15732 16537 PROVISIONAL 1606249 BAHCC1 BAH domain and coiled-coil containing 1 ENCODES a protein that exhibits chromatin binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; hydrogen peroxide 17 17 17 q25.3 76011627 76080540 + 79373540 79433358 + 81399721 81466332 + 6480464;8554872 10819331;12421765;12477932;14702039;21988832 57597 F8WBW8;Q9P281 AB040880;ABBA01032144;ABBA01032145;ABBA01032146;ABBA01032147;AC110285;AC139149;AC153475;AC213194;AF086116;AK026711;AK056636;AL713748;AMYH02034127;AMYH02034128;BC033222;BC050673;CH471099;NM_001080519;NM_001291324;XM_006721988;XM_006721989;XM_006721990 AAH33222;BAA95971;BAB15535;EAW89652;NP_001073988;NP_001278253;Q9P281;XP_006722051;XP_006722052;XP_006722053 Hs.514580 1672230;1677320;2191437 MARC_21859-21860:1027094458:1;RH48026;RH99048 BAHD2;FLJ23058;KIAA1447 BAH and coiled-coil domain-containing protein 1;BAH domain-containing protein 2;bromo adjacent homology domain-containing protein 2 protein-coding ENSG00000266074 HGNC:29279 VALIDATED 1345980 BAHD1 bromo adjacent homology domain containing 1 ENCODES a protein that exhibits chromatin binding; INVOLVED IN heterochromatin assembly; negative regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN chromatin silencing complex; INTERACTS WITH copper(2+) sulfate; menadione; ouabain 15 15 15 q15.1 17499558 17526585 + 40733411 40760441 + 40439721 40468242 + 737633;1580863;6480464;8554872 12477932 10231032;12421765;16189514;18187620;19666599;19913121;20628086;21252314;21900206;23455924;24449750;8889548 22893 Q8TBE0 AB023162;ABBA01038449;AC013356;AL833923;AMYH02030240;AMYH02030241;BC022782;BU740533;CH471125;HY041603;HY353002;NM_001301132;NM_014952;NR_125372;XM_005254229;XM_005254230;XM_005254231;XM_006720436 AAH22782;ADZ15491;BAA76789;CAD38779;EAW92416;EAW92417;EAW92418;NP_001288061;NP_055767;Q8TBE0;XP_005254286;XP_005254287;XP_005254288;XP_006720499 Hs.22109 1667845;1683120;2107883;2111232 BAHD1_9281;D15S486;RH91414;STS-N50033 KIAA0945 BAH domain-containing protein 1;OTTHUMP00000160443;bromo adjacent homology domain-containing 1 protein protein-coding ENSG00000140320 HGNC:29153 12518 613880 VALIDATED 1313737 BAI1 brain-specific angiogenesis inhibitor 1 Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008] 8 8 8 q24.3 139855778 139937685 + 143545377 143626369 + 142464016 142545008 + 1580863;6480464;6907045;8554872 10343108;10748157;11245925;11875720;11937501;12074842;12507886;12543931;14702039;14980512;15203201;19615732;21724586;22330140;23190742;23595754;23782696;24509909;7531056;9393972;9533023;9647739;9772287;9790924 575 E5RG74;O14514 AB005297;ABBA01029407;ABBA01029408;ABBA01029409;ABBA01029410;AC139676;AK123982;AMYH02018922;AMYH02018923;AMYH02018924;CH471162;NM_001702;XM_005251015 AAI56201;BAA23647;EAW82323;NP_001693;O14514;XP_005251072 Hs.194654 2151185 GDB:314333 FLJ41988 GDAIF;OTTHUMP00000227339;OTTHUMP00000227746 APPROVED protein-coding ENSG00000181790 HGNC:943 04062 602682 REVIEWED 1320187 BAI3 brain-specific angiogenesis inhibitor 3 This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008] 6 6 6 q12 69732521 70486170 + 69345210 70099403 + 68635318 69389511 + 1580863;6480464;8554872 12168954;12477932;15123239;15203201;15489334;18628273;19240061;19913121;20339536;20379614;20628086;20677014;20946148;21262840;21829377;22158540;22219177;9533023;9628581 577 B7Z1K0;J3KMY8;O60242;S4R307;S4R3D0 AB005299;AB011122;ABBA01008896;ABBA01008897;ABBA01008898;ABBA01008899;ABBA01008900;ABBA01008901;ABBA01008902;ABBA01008903;ABBA01008904;ABBA01008905;ABBA01008906;ABBA01008907;AK289696;AK293560;AK295516;AK316174;AL035469;AL078598;AL133378;AL158051;AL160401;AL356117;AL359714;AL391807;AL589875;AMYH02013864;AMYH02013865;AMYH02013866;AMYH02013867;BC111720;CH471051;CR740925;DB446627;KF458189;KF458193;NM_001704;XM_005248752;XM_005248753;XM_006715534 AAI11721;BAA25363;BAA25476;BAF82385;BAH11536;BAH12092;BAH14545;EAW48836;EAW48837;NP_001695;O60242;XP_005248809;XP_005248810;XP_006715597 Hs.13261 1334986;1337517;1338719;1656493;1685177;1685988;1708134;1715561;1735618;1750071;1851901;1852548;2126342;2161945;2217060;5494100 BAI3_3939;D6S1150E;D6S1225E;D6S1406;D6S1619;D6S1903;D6S467;D6S965;RH120922;RH15836;RH18425;RH25141;SHGC-112231;SHGC-3712;SHGC-81469;fd06g06.y1 KIAA0550;MGC133100 OTTHUMP00000016691;dJ91B17.1 (brain-specific angiogenesis inhibitor 3) APPROVED protein-coding ENSG00000135298 HGNC:945 04064 602684 REVIEWED 732926 BAIAP2 BAI1-associated protein 2 The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009] 17 17 17 q25 75655595 75719320 + 79008944 79091232 + 81035144 81117432 + 1580863;6480464;6484113 10332026;10343108;10460236;10814512;11130076;11157984;11696321;12054568;12477932;12504591;12598619;12884081;14596909;14667819;14702039;14752106;15289329;15324660;15489334;15592455;15635447;15673667;16169070;16189514;16702231;16712791;16713569;17003044;17115031;17353931;17361185;17371834;17979178;18029348;18215522;18417251;19054385;19056867;19171758;19193906;19286134;19366662;19460367;19733838;19762983;19933840;19953087;20360004;20418908;20585556;20621182;20678498;20888579;20936779;21139048;21542353;21814501;21832049;21893288;21906983;21988832;22179776;22767515;23000965;23455924;23602568;24163370;24165937;24255178;24377651;24392092;24550385;24584464;8125298 10458 B4DWA1;I3L0M4;I3L0Y9;I3L113;I3L125;I3L1C8;I3L2J6;I3L2M4;I3L327;I3L3C5;I3L3C6;I3L3J7;I3L4A3;I3L4C2;I3L526;Q9UQB8 AB015019;AB015020;AB017119;AB017120;AB104726;ABBA01032123;AC115099;AC127496;AK023688;AK056888;AK222670;AK225612;AK297644;AK298629;AK301436;AMYH02034117;AMYH02034118;BC002495;BC014020;BC032559;CB153324;CH471099;KC877672;NG_029486;NM_001144888;NM_006340;NM_017450;NM_017451;U70669;XM_005256943;XM_005256944;XM_005256945;XM_005256948;XM_006721635;XM_006721636;XM_006721637;XM_006721638;XR_429867 AAB93497;AAH14020;AAH32559;ABM84382;ABM87328;BAA36586;BAA36587;BAA74773;BAA74774;BAC57945;BAC57946;BAC57947;BAC57948;BAD96390;BAG51821;BAG60012;BAG60805;BAG62963;EAW89625;EAW89626;EAW89627;EAW89628;NP_001138360;NP_006331;NP_059344;NP_059345;Q9UQB8;XP_005257000;XP_005257001;XP_005257002;XP_005257005;XP_006721698;XP_006721699;XP_006721700;XP_006721701 Hs.128316 1656532;1680523;1697596;1758653;1783506 RH102309;RH15981;RH36794;SHGC-147371;SHGC-149058 BAP2;FLAF3;IRS-58;IRSP53;IRSp53/58 BAI-associated protein 2;brain-specific angiogenesis inhibitor 1-associated protein 2;fas ligand-associated factor 3;insulin receptor substrate p53;insulin receptor substrate p53/p58;insulin receptor substrate protein of 53 kDa APPROVED protein-coding ENSG00000175866 HGNC:947 05686 605475 REVIEWED 1319770 BAI2 brain-specific angiogenesis inhibitor 2 This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (PMID:20367554). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 1 1 1 p35 30461955 30498884 - 32192718 32230494 - 31727111 31764047 - 1580863;6480464;8554872 10964907;12218411;12477932;12508107;12543931;14697242;14702039;15123239;15203201;15225653;16169070;16344560;16412436;16710414;20367554;20677014;21787750;9533023 576 A2A3C1;A2A3C2;A2A3C3;A2A3C4;A2A3C6;B4DKC3;E9PND1;O60241 AB005298;AB065648;ABBA01023452;ABBA01023453;AC114488;AI291691;AK123392;AK294361;AK294999;AK296502;AK307805;AL354919;AMYH02000686;AX646677;BC009035;BC014780;BC136533;BE379230;CH471059;DA314854;DA494051;NM_001294335;NM_001294336;NM_001703;XM_005271067;XM_006710783;XM_006710784;XM_006710785;XM_006710786;XM_006710787;XM_006710788;XM_006710789;XM_006710790 AAH09035;AAI36534;BAA25362;BAC05874;BAG57625;BAG58063;BAG59135;CAD69465;EAX07589;EAX07590;EAX07591;EAX07592;EAX07593;EAX07594;NP_001281264;NP_001281265;NP_001694;O60241;XP_005271124;XP_006710846;XP_006710847;XP_006710848;XP_006710849;XP_006710850;XP_006710851;XP_006710852;XP_006710853 Hs.524138 1656178;1665645;2117936;2217058 BAI2_3938;G06240;IB428;STS-G06240 Brain-specific angiongenesis inhibitor-2;OTTHUMP00000003957;OTTHUMP00000195038;OTTHUMP00000195040;OTTHUMP00000195041;OTTHUMP00000195042;OTTHUMP00000228424;OTTHUMP00000228425 APPROVED protein-coding ENSG00000121753 HGNC:944 04063 602683 REVIEWED 2303670 BAIAP2-AS1 BAIAP2 antisense RNA 1 (head to head) INTERACTS WITH (+)-catechin; valproic acid 17 17 17 q25.3 75630453 75636018 - 79002933 79008519 - 81029133 81034719 - 6480464 12477932;14702039;16303743 440465 Q8NBT7 ABBA01032123;AC127496;AK027350;AK056555;AK075238;AK096609;AK124762;AMYH02034117;BC110822;CH471099;CQ783882;NR_026857 BAC11491;CAF86906;EAW89624 Hs.448889 2172023;5020274 A006D02;L18441 FLJ14444;FLJ31993;FLJ39290;FLJ42772;MGC131745 APPROVED ncrna ENSG00000226137 HGNC:44342 13544 VALIDATED 1352215 BAIAP2L1 BAI1-associated protein 2-like 1 This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009] 7 7 7 q22.1 92614864 92724061 - 97920962 98030427 - 98291650 98401115 - 6480464 10931946;12477932;12690205;12853948;14752106;15324660;15489334;16344560;17081983;17430976;17568789;18029348;18215522;19056867;19366662;19807924;20562859;20811636;21098279;21139048;21840312;21887275;21906983;21963094;22219177;22745667;22829776;22921828;23175443;23251661;23383273;23693078;24163370;8889548;9847074 55971 Q9UHR4 ABBA01045726;ABBA01045727;ABBA01045728;ABBA01045729;ABBA01045730;ABBA01045731;AC004841;AC093169;AC093799;AF119666;AK027109;AK027142;AK074419;AK124269;AK309936;AMYH02016328;AMYH02016329;AMYH02016330;AMYH02016331;BC013888;BI560834;BM977002;CH236956;CH471091;DA442866;NG_013090;NM_018842 AAD20937;AAF17223;AAH13888;AAS07549;AAS07550;ACE87078;ACE87758;BAB15671;EAL23890;EAW76706;EAW76707;NP_061330;Q9UHR4 Hs.656063 1648473;1657652;1675120;1679936;1683687;1689771;1703246;2154605 D7S2754;G09735;GDB:1317708;RH12625;RH79669;RH92769;RH98644;SGC31939 FLJ42275;IRTKS BAI1-associated protein 2-like protein 1;OTTHUMP00000205450;brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1;insulin receptor tyrosine kinase substrate APPROVED protein-coding ENSG00000006453 HGNC:21649 11270 611877 REVIEWED 1342805 BAIAP2L2 BAI1-associated protein 2-like 2 The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012] 22 22 22 q13.1 22282641 22311373 - 38480896 38506971 - 38084883 38110964 - 6480464;8554872 10591208;12477932;12975309;15489334;18029348 80115 B0QYF0;Q6UXY1;Q9H661 ABBA01055502;ABBA01055503;ABBA01055504;ABBA01055505;AK026235;AK026263;AL022322;AL031587;AMYH02038352;AMYH02038353;AMYH02038354;AW007403;AY358164;CH471095;KF457452;NG_033059;NM_025045;XM_005261751 AAQ88531;ADZ16019;BAB15405;EAW60216;EAW60217;NP_079321;Q6UXY1;XP_005261808 Hs.474822 1657752;1682001;1690886;1754415;1796518;2148214;5019571 AU047468;PLA2G6_1043;RH66642;RH93923;RH99077;SHGC-132435;SHGC-31786 FLJ22582 BAI1-associated protein 2-like protein 2;OTTHUMP00000199353;brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2;pinkbar;planar intestinal- and kidney-specific BAR domain protein protein-coding ENSG00000128298 HGNC:26203 07997 REVIEWED 1318052 BAIAP3 BAI1-associated protein 3 This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 16 16 16 p13.3 1598966 1613557 + 1383606 1399442 + 1333605 1349441 + 6480464;8554872 11076863;11157797;11230166;12168954;12477932;12498718;15489334;15489336;15616553;16381901;23698091;8619474;9110174;9790924;9872452 8938 H3BPP9;H3BV46;O94812 AB018277;ABBA01030310;ABBA01030311;AE006467;AF038191;AK294491;AK294576;AK294744;AK295645;AK299309;AK299358;AK315059;AL031709;AL834321;AMYH02031226;AMYH02031227;BC104966;BC112129;BF448577;CH471112;DC318470;NG_033974;NM_001199096;NM_001199097;NM_001199098;NM_001199099;NM_001286464;NM_003933 AAI04967;AAI12130;AAK61275;BAA34454;BAG37534;BAG57713;BAG57768;BAG57886;BAG58515;BAG61321;BAG61353;CAH56376;CAL38712;EAW85670;EAW85671;EAW85672;NP_001186025;NP_001186026;NP_001186027;NP_001186028;NP_001273393;NP_003924;O94812 Hs.458427 1656992 RH70716 BAP3;KIAA0734;MGC138334 BAI-associated protein 3;OTTHUMP00000045501;OTTHUMP00000158651 APPROVED protein-coding ENSG00000007516 HGNC:948 04925 604009 REVIEWED 1353034 BAK1 BCL2-antagonist/killer 1 The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 35094701 35102448 - 33540323 33548072 - 33572546 33580296 - 1580863;2313963;2315700;2315701;2313975;2315703;1643479;2315709;2316133;6480464;6907045 11232245;12771926;16962107;17322918;18817839;18993028;19222350;9894249 10085290;10365962;10381623;10381646;10579309;10639121;10837489;10950869;11175750;11206074;11326099;11571294;11728179;11795669;11867266;11908704;11929871;11932420;11940658;11964315;12070120;12137781;12176904;12297281;12454021;12477932;12624108;12624178;12721291;12808108;12847083;12881569;14574404;14596824;14647456;14702039;14980220;15003505;15077116;15124764;15159409;15194786;15248898;15292519;15322047;15351796;15467752;15478112;15489334;15637055;15638360;15638362;15757910;15846303;15846589;15901672;16172118;16189514;16199525;16341674;16376985;16410245;16436379;16439990;16529740;16645094;16712791;16794010;16847458;16874066;16978419;16988840;17015472;17074758;17188240;17227835;17235284;17289999;17353931;17513609;17686864;17698840;17699158;17724463;17879944;17880809;17927446;17991745;18056640;18178565;18251703;18299329;18309324;18349538;18362892;18387192;18413764;18471982;18472157;18524770;18593893;18636124;18665919;18676680;18715924;18927073;19041633;19056676;19060904;19074885;19135534;19148187;19168699;19170196;19255499;19282307;19343496;19351886;19381065;19463775;19481066;19483681;19514060;19587033;19593445;19625176;19692168;19820697;19875445;19898928;19913121;19955184;20034877;20139978;20308427;20428767;20453000;20460378;20503275;20561923;20618440;20628086;20629644;20836993;20855536;20877624;20930068;20959805;20978950;21036904;21041309;21148306;21158936;21159883;21196599;21233848;21613222;21617256;21656147;21658363;21712378;21726118;21727192;21823019;21852253;21900206;21988832;22024133;22056880;22065578;22072546;22139419;22188816;22253918;22257632;22297299;22354970;22378505;22423221;22440942;22479585;22493436;22504646;22515821;22526391;22686245;22700719;22719244;22939629;23140172;23189150;23192964;23217248;23229512;23242420;23251661;23263863;23283967;23303126;23389372;23404709;23480852;23604079;23666239;23666240;23770605;23798675;23928699;23954442;23954445;23966164;24026423;24074954;24097825;24100034;24130482;24265320;24292274;24532468;24643683;24680709;24850748;7715729;7715730;7715731;8521816;8887627;9020082;9111042;9463381;9573342;9843949;9878060 578 Q16611 ABBA01038158;AF520590;AK091807;AK292093;AK293547;AK303422;AMYH02013493;AY260471;BC004431;BC032789;BC110337;BM855203;CB142221;CH471081;CR457419;CR627020;D88397;NM_001188;U16811;U23765;X84213;XR_241910;Z93017 AAA74466;AAA93066;AAH04431;AAI10338;AAM74949;AAO74828;ABM83453;ABM86665;BAA13606;BAF84782;BAG52419;BAG57025;BAG64474;CAA58997;CAG33700;CAI46254;EAX03740;EAX03741;EAX03742;NP_001179;Q16611 Hs.485139 1684830;5111522 D11S4366;RH64934 BAK;BAK-LIKE;BCL2L7;CDN1;MGC117255;MGC3887 BCL2-like 7 protein;OTTHUMP00000016211;apoptosis regulator BAK;bcl-2 homologous antagonist/killer;bcl-2-like protein 7;bcl2-L-7;pro-apoptotic protein BAK APPROVED protein-coding ENSG00000030110 HGNC:949 02744 600516 REVIEWED 1343125 BAK1P1 BCL2-antagonist/killer 1 pseudogene 1 6 20 20 q11.21 35094707 35096063 - 31276732 31278856 - 32688930 32691054 - 1580863 11780052;21048031;21139048;7715731 600 Q5HCI0 ABBA01019257;AMYH02036935;BX640505;NG_000850;U16812 AAA74467 1684830 RH64934 BAK2;BCL2L7P1;Bak-2;DKFZp686D0345 APPROVED pseudo HGNC:996 INFERRED 1352173 BAK1P2 BCL2-antagonist/killer 1 pseudogene 2 11 11 11 q24.3 127584325 127586436 - 130415438 130417549 - 130545543 130547654 - 7715731 601 ABBA01023044;AMYH02025791;AP004371;NG_005599;U16813 BAK3;BAK3P;BCL2L7P2 APPROVED pseudo HGNC:997 INFERRED 1346993 BAMBI BMP and activin membrane-bound inhibitor This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008] 10 10 10 p12.3-p11.2 28731284 28736727 + 28966424 28971868 + 28677495 28682939 + 737633;1580863;6480464;6484113 12477932 10942595;12107411;14660579;15164054;15240101;15340161;15489334;16189514;18756595;18838381;19326429;19328798;19758997;19998449;20189233;20513241;20634891;20886049;21496456;21890473;21900206;21963094;22187378;22406377;23551011;23807684;24448807;24752577;8125298;8621228 25805 Q13145 ABBA01034373;AI680996;AJ277487;AK223065;AK290639;AL161936;AMYH02022539;BC019252;BQ640107;BT006820;CH471072;NM_012342;U23070;U29189 AAC50435;AAH19252;AAP35466;AAR02414;BAD96785;BAF83328;CAB89152;EAW86030;EAW86031;NP_036474;Q13145 Hs.533336 1854544;2110521;2110523;2148335;2219028;5013966 BAMBI__4431;MARC_37841-37849:1070304063:1;MARC_37843-37842:1071256456:1;MARC_37843-37844:1076342064:3;WI-16558;WIAF-1707 NMA BMP and activin membrane-bound inhibitor homolog;OTTHUMP00000019384;non-metastatic gene A protein;putative transmembrane protein NMA APPROVED protein-coding ENSG00000095739 HGNC:30251 05117 604444 REVIEWED 6483484 BANCR BRAF-activated non-protein coding RNA 9 9 71911597 71921972 - 69296681 69307056 - 22581800;22673151;24655544 100885775 AA442062;AA442164;AA992895;ABBA01033807;AI394221;AI472919;AL355140;AMYH02020933;BG193679;LN608295;LN608296;N98863;NR_047671;W58600 Hs.49768 LINC00586 ncrna HGNC:43877 VALIDATED 1350560 BANF1P1 barrier to autointegration factor 1 pseudogene 1 14 14 14 q24.1 49464173 49464870 + 69403264 69403961 + 68936547 68937244 + 9740667 317687 ABBA01023683;AL117694;AMYH02029428;NG_002455;NG_029480 BCRG1;BCRP1;D14S1460;D14S1460E pseudo HGNC:20252 INFERRED 1342836 BANF1 barrier to autointegration factor 1 The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009] 11 11 11 q13.1 63093965 63096038 + 65769550 65771617 + 66002079 66004146 + 632371;1580863;6480464;8699517;7240710;8554872 9465049 10393804;10651245;10908652;10924106;11005805;11792821;11792822;12091904;12163470;12215455;12228227;12477932;12493765;12663813;14523012;14645565;15109603;15123239;15130582;15479846;15489334;15546916;15635413;15681850;15875659;16075307;16155580;16203725;16204256;16291214;16337940;16371512;16403635;16622419;16680152;16738646;17304248;17519288;17620012;18005698;18628300;19750561;19759913;20581439;21139048;21447625;21549337;21674799;21750191;21880762;21890473;21906983;21932319;21966431;22127260;22935701;22939629;23000965;23024700;23664529;23891157;24014020;24265311;24600006;24816145;7937898;9521877;9740667;9783751 8815 E9PJJ8;O75531 ABBA01024094;AF044773;AF068235;AF070447;AK311961;AMYH02024967;AP006287;BC005942;BC008705;BC107702;BG748852;BU940708;CH471076;CR542140;NG_031874;NM_001143985;NM_003860 AAC08964;AAC23575;AAD15901;AAH05942;AAI07703;BAG34901;CAG46937;EAW74483;EAW74484;EAW74485;EAW74486;NP_001137457;NP_003851;O75531 Hs.433759 1645935;1678945 G06903;RH69702 BAF;BCRP1;D14S1460;MGC111161;NGPS OTTHUMP00000234145;OTTHUMP00000234146;barrier-to-autointegration factor;breakpoint cluster region protein 1 APPROVED protein-coding ENSG00000175334 HGNC:17397 04817 603811;614008 REVIEWED 1348743 BANF1P2 barrier to autointegration factor 1 pseudogene 2 10 10 q26.3 135157764 135158505 - 133344260 133345001 - 414169 ABBA01006213;AL360181;AMYH02024092;NG_029687 BANF1L1;bA122K13.8 APPROVED pseudo HGNC:23426 INFERRED 6482636 BANF1P3 barrier to autointegration factor 1 pseudogene 3 2 2 231589467 231590194 - 230724752 230725479 - 100505506 ABBA01050113;AC084031;AMYH02005957;NG_029257 1645935;1678945 G06903;RH69702 pseudo HGNC:43883 INFERRED 6482638 BANF1P5 barrier to autointegration factor 1 pseudogene 5 7 7 q22.3 107282833 107283524 - 107642388 107643079 - 101290503 ABBA01057906;AC078937;AMYH02016516;NG_033173 pseudo HGNC:43885 INFERRED 6483733 BANF1P4 barrier to autointegration factor 1 pseudogene 4 1 1 174725608 174726350 - 174756470 174757212 - 100653423 ABBA01027877;AL161671;AMYH02002173;NG_029684 pseudo HGNC:43884 INFERRED 1317375 BANF2 barrier to autointegration factor 2 ENCODES a protein that exhibits DNA binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH copper(2+) sulfate 20 20 20 p12.1 17748830 17791025 + 17674320 17716517 + 17693675 17735872 + 6480464;8554872 11780052;12477932;15489334;16337940;18029348;20379614;7829101 140836 B1AM15;Q9H503 AA394107;ABBA01054027;ABBA01054028;AL132765;AL160071;AMYH02036768;AMYH02036769;AW022487;BC054871;BC062735;CH471133;NM_001014977;NM_001159495;NM_178477;XM_005260668 AAH54871;AAH62735;EAX10271;EAX10272;NP_001014977;NP_001152967;NP_848572;Q9H503;XP_005260725 Hs.115366 1687694 RH93138 BAF-L;BAF2;BAFL;C20orf179;MGC62093;MGC72082 OTTHUMP00000040745;OTTHUMP00000040746;OTTHUMP00000162797;barrier-to-autointegration factor 2;barrier-to-autointegration factor-like protein protein-coding ENSG00000125888 HGNC:16172 12759 VALIDATED 1342509 BANK1 B-cell scaffold protein with ankyrin repeats 1 The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 q24 100010928 100294453 + 102711764 102995969 + 101790607 102074812 + 6480464;7240710;8554872 11329013;11782428;12477932;14702039;15489334;16344560;18204447;19110536;19180476;19339986;19357697;19644876;19815934;19877059;20131273;20379614;20472928;20618440;20848568;20881011;20962850;21068098;21078628;21208380;21480188;21900951;21978998;21989138;22003931;22763476;23065315;23128233;23273568;23453885;23555801;23646104;23899688;24085759;24127308;24342660 55024 Q8NDB2 AA768944;AB063170;ABBA01063693;ABBA01063694;ABBA01063695;ABBA01063696;AC093694;AC095062;AC109928;AI864790;AK000713;AK091523;AK093024;AK292133;AK301936;AL834291;AMYH02009811;AMYH02009812;AP002075;AW574859;BC032241;BE748761;BG200452;CH471057;DA109829;DA946668;EU051376;NG_015824;NM_001083907;NM_001127507;NM_017935 AAH32241;ABM81992;ABM85173;ABW74340;BAA91337;BAB79255;BAC03685;BAF84822;BAG63356;CAD38965;EAX06127;EAX06128;NP_001077376;NP_001120979;NP_060405;Q8NDB2 Hs.480400 1335077;1652395;1653556;1690742;1718763;1752553;1753793;1773838;2135592;2149478;2157165;2168424;2186415;2218294 BANK1_4432;D4S1235;D4S290;D4S2961;D4S3204;G01532;G01787;GDB:372311;RH123071;RH92147;SHGC-106471;SHGC-108016;SHGC-50588;SHGC-51455 BANK;FLJ20706;FLJ34204 B-cell scaffold protein with ankyrin repeats;OTTHUMP00000219423;OTTHUMP00000219424;OTTHUMP00000219425;OTTHUMP00000219426 APPROVED protein-coding ENSG00000153064 HGNC:18233 09819 152700;610292 REVIEWED 1316673 BANP BTG3 associated nuclear protein This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 16 16 16 q24 72282252 72401419 + 87984231 88110924 + 87949516 88077318 + 6480464 10940556;10950932;12477932;12494467;14702039;15146197;15371550;15623522;15701641;16166625;16189514;16344560;17668048;18822384;18981184;19303885;19448619;19799771;20075864;20097305;20153010;20153327;20379614;20562859;20709157;20719862;21044950;21988832;22013068;22074660;22674979;23291589;23402259;23876508;24722188;25086032;8889549 54971 B3KM38;B4DE54;C9J811;C9JF73;C9JGM9;C9JLS0;C9JLT2;C9JTM8;C9JYB6;E9PIP2;E9PJI6;Q8N9N5;Q9NSS6 ABBA01006925;ABBA01006926;ABBA01006927;ABBA01006928;ABBA01006929;AC127455;AC134312;AK001039;AK094158;AK125232;AK293472;AK297945;AK315089;AK315535;AL157429;AMYH02032627;AMYH02032628;BC009424;BC018247;CH471114;CN289917;DA632793;NG_029918;NM_001173539;NM_001173540;NM_001173541;NM_001173542;NM_001173543;NM_017869;NM_079837;T49823;XM_005256008;XM_005256009;XM_005256010;XM_005256012;XM_006721213;XM_006721214;XM_006721215;XM_006721216;XM_006721217;XM_006721218;XM_006721219;XM_006721220;XM_006721221;XM_006721222;XM_006721223 AAH09424;ABM84102;ABM87474;BAC04296;BAG37554;BAG50850;BAG54171;BAG56965;BAG60261;CAB75653;EAW95364;EAW95365;EAW95366;EAW95367;EAW95368;EAW95369;EAW95370;NP_001167010;NP_001167011;NP_001167012;NP_001167013;NP_001167014;NP_060339;NP_524576;Q8N9N5;XP_005256065;XP_005256066;XP_005256067;XP_005256069;XP_006721276;XP_006721277;XP_006721278;XP_006721279;XP_006721280;XP_006721281;XP_006721282;XP_006721283;XP_006721284;XP_006721285;XP_006721286 Hs.461705 1738567;1764575;1766431;1780036;1780064;2131708;5122220 D16S2733;SHGC-148167;SHGC-149765;SHGC-154291;SHGC-154313;SHGC-33012;STS-T49824 BEND1;DKFZp761H172;FLJ10177;FLJ20538;SMAR1;SMARBP1 BEN domain containing 1;BEN domain-containing protein 1;OTTHUMP00000175041;OTTHUMP00000175042;OTTHUMP00000175043;OTTHUMP00000233938;btg3-associated nuclear protein;scaffold/matrix-associated region-1-binding protein APPROVED protein-coding ENSG00000172530 HGNC:13450 16538 611564 REVIEWED 1323652 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013] 3 3 3 p21.31-p21.2 52414346 52423331 - 52435020 52444121 - 52401004 52410105 - 1580863;6480464;9586039;9479061;8699517;9586037;8554872;9586038;7240710 24647359;24928783;25080371;25147369 10546591;10667217;12168954;12477932;12800201;14702039;15302935;15489334;15717329;16344560;18029348;18757409;18950845;19117993;19188440;19197335;19367581;19615732;19815555;19950226;20302916;20360068;20436459;20805357;21051595;21139048;21484256;21642991;21874000;21874003;21890473;21926972;21941004;22042019;22118674;22268848;22321046;22367297;22545102;22626734;22683710;22834783;22863556;22878500;22889334;22897849;22935333;22958294;23026932;23032617;23147254;23171164;23277170;23333114;23341325;23495950;23620406;23644518;23684012;23709298;23849051;23867514;23915344;23963927;23974872;23977234;24018818;24029645;24076305;24128712;24166983;24185509;24187051;24211834;24243779;24247622;24347639;24373783;24382589;24511587;24703950;24705312;24816145;24970262;2532544;8125298;9039502;9528852 8314 C9J7L9;F8W6N3;F8WEY5;H0Y8E8;H7C4V7;Q92560 AB002534;ABBA01024509;AC092045;AF045581;AJ011861;AK092725;AK094499;AK225494;AK292608;AK295395;AK307274;AMYH02006800;AY130008;BC001596;BX647318;CH471055;D87462;D88812;DA188433;NG_031859;NM_004656 AAC15970;AAH01596;AAN05092;ABM83471;ABM86682;BAA13401;BAB46921;BAB46926;BAF85297;BAG52602;BAG58349;EAW65220;EAW65221;NP_004647;Q92560 Hs.106674 1768736;1788698;2106959;2159579;2175969;5014055 BAP1_7253;D1S3697;D3S3829;D3S3975;RH135811;SHGC-76996 DKFZp686N04275;FLJ35406;FLJ37180;HUCEP-13;KIAA0272;TPDS;UCHL2;hucep-6 BRCA1-associated protein 1;OTTHUMP00000212891;OTTHUMP00000212984;cerebral protein 6;cerebral protein-13;cerebral protein-6;ubiquitin carboxy-terminal hydrolase;ubiquitin carboxyl-terminal hydrolase BAP1 APPROVED protein-coding ENSG00000163930 HGNC:950 04366 603089;614327 REVIEWED 733588 BARHL1 BarH-like homeobox 1 ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (inferred); sequence-specific DNA binding (inferred); INVOLVED IN midbrain development (inferred); negative regulation of neuron apoptotic process (inferred); neuron migration (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; 4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one; benzo[a]pyrene 9 9 9 q34 105999743 106007390 + 135457993 135465640 + 132582606 132590253 + 1580863;6480464;8554872 10814725;12477932;14702039;17353931;18029348;20211142;21602885 56751 Q9BZE3 ABBA01032484;AF321618;AF325688;AJ237816;AK054797;AL354735;AMYH02021812;BC136956;BC136969;BC144433;CH471090;NM_020064 AAG50279;AAI36957;AAI36970;AAI44434;AAK52674;BAB70807;CAB92439;EAW88005;NP_064448;Q9BZE3 Hs.283809 OTTHUMP00000022433;barH-like 1 homeobox protein protein-coding ENSG00000125492 HGNC:953 05554 605211 VALIDATED 1344726 BARHL2 BarH-like homeobox 2 ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (inferred); sequence-specific DNA binding (inferred); INVOLVED IN cell fate determination (inferred); neuron differentiation (inferred); neuron migration (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH arsenite(3-); copper(2+) sulfate; dimethyl sulfoxide 1 1 1 p22.2 89425682 89430897 - 91177579 91182794 - 90712022 90717237 - 1580863;6480464 10814725;12477932;15489334 343472 Q9NY43 ABBA01045575;AC092805;AJ251753;AMYH02001451;AY338397;BC126439;BC126441;CH471097;NM_020063 AAI26440;AAI26442;AAQ01189;CAB92440;EAW73123;NP_064447;Q9NY43 Hs.451956 1692958;2218300;5017929 AL034195;BARHL2_4436;Barhl2 OTTHUMP00000011704;barH-like 2 homeobox protein protein-coding HGNC:954 05555 605212 VALIDATED 736238 BARD1 BRCA1 associated RING domain 1 This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] 2 2 2 q34-q35 209361498 209442679 - 215590370 215674428 - 214725646 214809711 - 734631;1580863;2293149;2315713;2315714;2315716;2315717;2315727;2315729;2315732;2315715;632230;6480464;7240710;8554872 11156388;14550946;16152612;16333312;16685375;16768547;17028982;17333333;17972171;18443292;8944023 10026184;10362352;10477523;10635334;10764811;11257228;11278247;11301010;11498787;11504724;11526114;11573085;11773071;11777930;11779501;11799067;11807980;11925436;11927591;11943588;12154023;12183411;12419249;12431996;12438698;12477932;12485996;12549820;12611903;12700228;12732733;12781370;12890688;12951069;14560035;14636569;14638690;14647430;14976165;15159397;15184379;15218362;15265711;15342711;15383276;15489334;15569676;15632137;15665273;15782130;15815621;15855157;15886201;15905410;16061562;16344560;16391231;16403807;16489000;16672066;16825437;17185394;17218787;17275994;17283126;17399677;17497650;17525341;17525342;17550235;17556008;17664283;17678435;18089818;18243530;18480049;18481171;18493658;18676680;18842000;18936166;18950845;19064565;19064572;19117993;19124506;19164445;19170196;19176389;19197335;19261748;19261749;19322201;19369211;19412175;19482343;19536092;19584272;19615732;19625176;19690564;19692168;19714462;19766185;19789190;19796682;19887602;19916563;19959210;20060929;20077502;20215511;20301425;20351172;20379136;20379614;20451671;20453000;20681793;20842729;21087664;21103343;21124317;21335604;21344236;21393566;21532592;21693656;21742769;21809034;21815143;21890473;21901007;21950761;21965653;22328350;22350409;22544576;22652532;22883453;22941191;22990118;23056176;23086937;23222812;23416467;23585894;23966609;24009820;24085845;24289923;24507701;24695549;24948741;8125298;8889548;9342365;9425226;9738006;9788437;9798686 580 A0AVN2;C9IYG1;C9J6M1;E7EUI3;F6MDI0;F6MDI1;F6MDI2;F8WCG2;Q99728 ABBA01062783;AC016708;AF038034;AF038035;AF038036;AF038037;AF038038;AF038039;AF038040;AF038041;AF038042;AK223409;AK301843;AK310759;AK314260;AMYH02005737;AMYH02005738;AX794378;BC126426;BC126428;BU677525;BU753556;BX098964;CH471063;DB088853;JF790280;JF790281;JF790282;JF790283;JF790284;JF790285;JF790286;JF790287;NG_012047;NM_000465;NM_001282543;NM_001282545;NM_001282548;NM_001282549;NR_104212;NR_104215;NR_104216;U76638 AAB38316;AAB99978;AAI26427;AAI26429;AAX93130;AEF57471;AEF57472;AEF57473;AEF57474;AEF57475;AEF57476;AEF57477;AEF57478;BAD97129;BAG36925;BAG63286;CAE48237;EAW70519;NP_000456;NP_001269472;NP_001269474;NP_001269477;NP_001269478;Q99728 Hs.591642;Hs.597413 1753921;1771331;2151634;2218298 BARD1_4434;RH66789;SHGC-108134;SHGC-56861 BARD-1 BRCA1 associated RING domain 1 isoform alfa;BRCA1 associated RING domain 1 isoform beta;BRCA1 associated RING domain 1 isoform delta;BRCA1 associated RING domain 1 isoform epsilon;BRCA1 associated RING domain 1 isoform eta;BRCA1 associated RING domain 1 isoform gamma;BRCA1 associated RING domain 1 isoform phi;BRCA1-associated RING domain gene 1;BRCA1-associated RING domain protein 1;OTTHUMP00000163973 APPROVED protein-coding ENSG00000138376 HGNC:952 03354 114480;601593 REVIEWED 1322041 BARX1 BARX homeobox 1 This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008] 9 9 9 q12 67155476 67159081 - 96713909 96717608 - 93951627 93955326 - 1580863;6480464 10995576;12477932;17486624;18708738;18978678;20634891;21900206;21988832;23314748;24121790 56033 Q9HBU1 ABBA01017680;ABBA01017681;AF213356;AL357073;AMYH02021248;BC009458;BC064363;CH471089;NM_021570 AAG23738;AAH09458;AAH64363;ADZ15659;EAW62873;NP_067545;Q9HBU1 Hs.164960 1797312 BARX1_2258 BarH-like homeobox 1;OTTHUMP00000021686;OTTHUMP00000197307;homeobox protein BarH-like 1 APPROVED protein-coding ENSG00000131668 HGNC:955 16017 603260 REVIEWED 1350102 BARX2 BARX homeobox 2 This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008] 11 11 11 q25 126414612 126490903 + 129245879 129322174 + 129375986 129452279 + 1580863;6480464 10644443;10854790;11278942;12477932;14702039;14744868;20634891;21890473;22238593;22383897;9122247 8538 Q9UMQ3 ABBA01023020;AF031924;AF171222;AJ243512;AK022187;AMYH02025775;AP003775;BC069378;BC111432;BC111572;CH471065;NM_003658 AAC04705;AAF09453;AAH69378;AAI11433;AAI11573;CAB50736;EAW67743;NP_003649;Q9UMQ3 Hs.591944 1760115;2218302 BARX2_2111;SHGC-108027 MGC133368;MGC133369 BarH-like homeobox 2;OTTHUMP00000230949;OTTHUMP00000244646;homeobox protein BarH-like 2 APPROVED protein-coding ENSG00000043039 HGNC:956 16074 604823 REVIEWED 8661345 BARX1-AS1 BARX1 antisense RNA 1 (head to head) 9 9 96718116 96720204 + 93955834 93957922 + 101928040 ABBA01017680;AL357073;AMYH02021249;XR_242647;XR_250505;XR_252615 ncrna ENSG00000235601 HGNC:50673 MODEL 1347703 BASP1 brain abundant, membrane attached signal protein 1 This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012] 5 5 5 p15.1 17243172 17302814 + 17216932 17276954 + 17216823 17276845 + 1580863;6480464;8554872 10965107;12477932;14701728;15146197;15489334;16344560;17081983;17500595;18268500;18781797;18850735;18949357;19013454;19050011;19056867;19190083;19322201;19376485;19956849;21139048;21269271;21963094;21987572;22304920;22810585;22863883;22939629;22939983;23092984;23275563;23398456;23898208;24250222;24255178;24350992;8889548;9310187;9749536 10409 P80723;U3KQP0 ABBA01020690;ABBA01020691;ABBA01020692;AC026785;AC091878;AF039656;AK295995;AK314152;AMYH02010944;AMYH02010945;BC000518;BG704783;BM888431;BM973114;BT019340;BT019341;BU181147;CH471102;CN355202;CS300636;DA489123;DW458407;HY258599;NM_001271606;NM_006317 AAC67374;AAH00518;AAV38147;AAV38148;ABM85492;ABW03753;BAG58770;CAK32300;EAX08012;EAX08013;NP_001258535;NP_006308;P80723 Hs.201641;Hs.646924 1683245;1700120;1751793;1751847;1779149 G35277;RH103673;RH80044;SHGC-105828;SHGC-105831 CAP-23;CAP23;MGC8555;NAP-22;NAP22 22 kDa neuronal tissue-enriched acidic protein;OTTHUMP00000161694;brain acid soluble protein 1;brain acid-soluble protein 1;neuronal axonal membrane protein NAP-22;neuronal tissue-enriched acidic protein APPROVED protein-coding ENSG00000176788 HGNC:957 08389 605940 REVIEWED 4889636 BASP1P1 brain abundant, membrane attached signal protein 1 pseudogene 1 13 13 13 q12.12 4533499 4534650 - 23471169 23472320 - 22897030 22898181 - 19376485 646201 ABBA01068628;AI624948;AL157931;AMYH02027685;NR_033774 Hs.729338 pseudo HGNC:39418 PROVISIONAL 1602989 BATF2 basic leucine zipper transcription factor, ATF-like 2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN defense response to protozoan (ortholog); myeloid dendritic cell differentiation (ortholog); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; pirinixic acid 11 11 11 q13.1 62081362 62090462 - 64755417 64765060 - 64987945 64997045 - 6480464 12477932;14702039;16189514;16713569;19060904;19074269;20473897;20531301;21867603;21892628;21988832;23049725;23661758;24133583;24252932;24282278 116071 B4DV37;E9PJ73;Q8N1L9 ABBA01024138;AK092453;AK096702;AK300917;AMYH02024949;AP000436;BC011931;BC012330;BP206576;CH471076;HM134154;NM_001300807;NM_001300808;NM_138456;XM_005273739 AAH12330;ADJ55304;BAC03894;BAC04846;BAG62549;EAW74330;EAW74331;NP_001287736;NP_001287737;NP_612465;Q8N1L9;XP_005273796 Hs.124840 1737985;1768945;2109509 D11S3587;L18080;MGC20410__7686 MGC20410;SARI B-ATF-2;OTTHUMP00000230540;OTTHUMP00000230788;basic leucine zipper transcriptional factor ATF-like 2;suppressor of AP-1 regulated by IFN protein-coding ENSG00000168062 HGNC:25163 14470 614983 VALIDATED 1312643 BATF basic leucine zipper transcription factor, ATF-like The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 56026856 56051425 + 75988784 76013335 + 75522441 75546992 + 1580863;6480464 10777209;12477932;12508121;12594265;12719594;12809553;15342556;15489334;16189514;18330356;20211142;20453842;20890291;21833088;23455924;23661758;24216482;24290279;8570175;8630063;8954125;9745044 10538 G3V266;Q16520 ABBA01030697;AC007182;AF016898;AMYH02029541;BC032294;BP235761;CH471061;D42106;NM_006399;U15460 AAC50314;AAC78243;AAD51372;AAH32294;BAA07686;EAW81234;NP_006390;Q16520 Hs.509964 1682928;2136526;2139591;2167945 G35460;G35803;RH98930;STS-U15460 B-ATF;BATF1;SFA-2;SFA2 B-cell-activating transcription factor;OTTHUMP00000246169;SF-HT-activated gene 2 protein;activating transcription factor B;basic leucine zipper transcriptional factor ATF-like APPROVED protein-coding ENSG00000156127 HGNC:958 09820 612476 REVIEWED 1602111 BATF3 basic leucine zipper transcription factor, ATF-like 3 This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.[provided by RefSeq, Feb 2009] 1 1 1 q32.3 186085819 186099376 - 212859759 212873327 - 212686417 212699985 - 6480464 10878360;11329013;12087103;12101239;12477932;12650714;12805554;14702039;15467742;23661758 55509 Q9NR55 ABBA01048166;AF255346;AK093671;AK094854;AL591647;AMYH02002646;BC117489;BC117491;BG184570;CH471100;NM_018664 AAF73966;AAI17490;AAI17492;ADR82815;EAW93381;NP_061134;Q9NR55 Hs.62919 2107639 SNFT__6873 FLJ36352;FLJ37535;JDP1;JUNDM1;SNFT 21 kDa small nuclear factor isolated from T-cells;21-kD small nuclear factor isolated from T cells;B-ATF-3;Jun dimerization protein 1;Jun dimerization protein p21SNFT;OTTHUMP00000034931;basic leucine zipper transcriptional factor ATF-like 3 APPROVED protein-coding ENSG00000123685 HGNC:28915 18081 612470 REVIEWED 70373 BAX BCL2-associated X protein The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.3-q13.4 46325480 46332409 + 49458117 49465055 + 48954860 48961798 + 734633;734634;734632;1300048;1579984;1579966;1643353;1643354;1643355;2293026;2293073;1643352;1643356;2292907;2313963;2314021;2311240;2314140;2290557;2296025;2313998;2296023;2313975;2291908;6480464;6484113;6907045;7248687;7248688;7240710;8699517;8554872 12234300;15632274;17288732;17322918;17390059;17454944;17575222;17626754;17639989;17694953;18083315;18221257;18317887;18444130;18452128;18817839;18931364;18959742;18991018;19820199;22419868;22614867;7569956;9020077;9531611 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581 H0YA56;I6LPK7;Q07812;Q5ZPJ0;Q5ZPJ1 ABBA01032954;ABBA01032955;AC026803;AC245081;AF007826;AF008195;AF008196;AF020360;AF247393;AF250190;AF339054;AI565203;AJ417988;AJ586909;AJ586910;AK291076;AY217036;BC014175;BE396495;BM673184;BM706954;CH471177;CN281003;HQ889830;JX524562;KF830846;KF830847;KF830848;L22473;L22474;L22475;NG_012191;NM_001291428;NM_001291429;NM_001291430;NM_001291431;NM_004324;NM_138761;NM_138763;NM_138764;NR_027882;T29044;U19599;XM_006723313;XM_006723314 AAA03619;AAA03620;AAA03621;AAC50142;AAD01415;AAD01416;AAD22706;AAF71267;AAF82094;AAH14175;AAL73333;AAO22992;ADZ05507;AFU81108;AIO10778;AIO10779;AIO10780;BAF83765;CAD10744;CAE52909;CAE52910;EAW52415;EAW52416;EAW52417;EAW52418;EAW52419;EAW52420;EAW52421;NP_001278357;NP_001278358;NP_001278359;NP_001278360;NP_004315;NP_620116;NP_620118;NP_620119;Q07812;XP_006723376;XP_006723377 Hs.624291 1783834;1788050;1788052;1793556;1793758;2133175;2190753;5117971 G67254;G67255;GDB:632822;PMC230316P5;PMC27116P1;RH47233;SHGC-156277;UniSTS:265693 BCL2L4 BCL2-associated X protein omega;BCL2-associated X protein transcript variant delta2;Baxdelta2G9;Baxdelta2G9omega;Baxdelta2omega;OTTHUMP00000218291;OTTHUMP00000218292;OTTHUMP00000218293;OTTHUMP00000218294;OTTHUMP00000218295;OTTHUMP00000218296;apoptosis regulator BAX;bcl-2-like protein 4;bcl2-L-4 APPROVED protein-coding ENSG00000087088 HGNC:959 02498 114500;600040 REVIEWED 1314248 BAZ1B bromodomain adjacent to zinc finger domain, 1B This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68332639 68414529 - 72854728 72936628 - 73440398 73522298 - 1580863;6480464;8554872;9495920;8661242 21358755;24002223 10662543;11124022;11980720;12477932;12853948;14702039;15302935;15543136;15635413;16252006;16344560;16514417;16565220;16603771;17081983;17250953;18162579;18781797;19060906;19060911;19092802;19394292;19454010;19471022;19596686;19656773;19913121;20139978;20195357;20580033;20628086;20657596;20802025;20864672;21139048;21252943;21326359;21490707;21890473;21906983;21907836;22178446;22412018;22505724;22586326;22751105;22939629;23000965;23085504;23263486;23319141;23505323;23752268;24457600;24816145;9828126;9847074;9858827 9031 Q9UIG0 AB032253;ABBA01063952;ABBA01063953;ABBA01063954;ABBA01063955;ABBA01063956;ABBA01063957;AC005074;AC005089;AF072810;AF084479;AK123274;AMYH02016021;AMYH02016022;AMYH02016023;BC041561;BC050599;BC065029;BC080544;BC136520;BU632531;CH471200;DA739467;NG_027679;NM_032408;XM_005250683 AAC97879;AAD04720;AAD08675;AAH65029;AAI36521;AAP22332;BAA89210;EAW69679;EAW69680;EAW69681;NP_115784;Q9UIG0;XP_005250740 Hs.743372 1651477;1654361;1663287;1665161;1790431;1790433;1790449;1790451;1854075;2123687;2124774;2125528;2135598;2149723;2157371;2174063;2217062;5113960 BAZ1B_3920;D7S2024;D7S3288;D7S3289;D7S3300;D7S3301;G20570;GDB:1317340;GDB:1317820;GDB:1317822;GDB:1318100;GDB:1318116;GDB:1318124;GDB:1318352;GDB:4585423;GDB:4585619;RH17036;RH65972 WBSCR10;WBSCR9;WSTF;hWALp2 OTTHUMP00000160320;OTTHUMP00000197535;Williams-Beuren syndrome chromosome region 10;Williams-Beuren syndrome chromosome region 9;bromodomain adjacent to zinc finger domain protein 1B;transcription factor WSTF;tyrosine-protein kinase BAZ1B;williams syndrome transcription factor;williams-Beuren syndrome chromosomal region 10 protein;williams-Beuren syndrome chromosomal region 9 protein APPROVED protein-coding ENSG00000009954 HGNC:961 10416 605681 REVIEWED 1314679 BAZ1A bromodomain adjacent to zinc finger domain, 1A The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010] 14 14 14 q13.2 15086104 15209015 - 35221937 35344853 - 34752731 34875647 - 1580863;6480464;9495920 21358755 10655480;10662543;10747848;10880450;11980720;12198550;12374985;12434153;12477932;14702039;14759371;15231748;15780937;16877760;17081983;17500595;17519354;19322201;19394292;19450608;19460752;19471022;19596686;20033039;20379614;21139048;21172662;21252943;21549307;21693764;21738833;21745822;21890473;22242598;22505724;22939629;22952844;24816145 11177 H0YJ68;H0YJ74;H0YJP5;Q9NRL2 AB032252;AB209255;ABBA01061484;ABBA01061485;ABBA01061486;AF086397;AF161435;AF213467;AF221130;AK027289;AL050089;AL121603;AL355885;AMYH02028993;AMYH02028994;AMYH02028995;AMYH02028996;AMYH02028997;AMYH02028998;AMYH02028999;BC020636;BC108711;CB217757;CH471078;HI574156;HI574158;NM_013448;NM_182648 AAF28995;AAF32366;AAF70601;AAH20636;AAI08712;AAI56492;BAA89209;BAD92492;BAG51300;CAB43261;CBX47567;CBX47568;EAW65900;EAW65901;EAW65902;EAW65903;EAW65904;EAW65905;NP_038476;NP_872589;Q9NRL2 Hs.509140 1678347;1700960;1776065;1849784;2164311 G35901;G36258;RH104107;RH44609;RH98236 ACF1;DKFZp586E0518;FLJ14383;WALp1;WCRF180;hACF1;hWALp1 ATP-dependent chromatin remodeling protein;ATP-dependent chromatin-remodeling protein;ATP-utilizing chromatin assembly and remodeling factor 1;CHRAC subunit ACF1;OTTHUMP00000178813;OTTHUMP00000244406;bromodomain adjacent to zinc finger domain protein 1A;williams syndrome transcription factor-related chromatin-remodeling factor 180 APPROVED protein-coding ENSG00000198604 HGNC:960 605680 VALIDATED 1312828 BAZ2A bromodomain adjacent to zinc finger domain, 2A ENCODES a protein that exhibits lysine-acetylated histone binding (ortholog); RNA binding (ortholog); INVOLVED IN chromatin silencing at rDNA (ortholog); DNA methylation (ortholog); histone deacetylation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN chromatin silencing complex (ortholog); nucleolus (ortholog); rDNA heterochromatin (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; calcitriol 12 12 12 q13.3 56642037 56681875 - 56989380 57030600 - 56595596 56636816 - 1580863;6480464;8554872 10662543;11532953;12198165;12477932;14702039;15292447;15302935;15489334;16085498;17081983;17474147;17672918;19471022;19578370;21139048;21252943;21890473;21906983;22139419;22586326;23333304;24457600;9205841 11176 F8VU39;F8VWQ3;F8W053;H0YHL2;H0YHQ7;H0YII3;J3KPG5;J3QK86;Q9UIF9 AB002312;ABBA01008429;ABBA01008430;ABBA01008431;ABBA01008432;AC090681;AF000422;AK023830;AK023842;AK127775;AK303327;AMYH02026571;BC008965;BC065914;CD686304;CH471054;CR749379;DB215236;NM_001300905;NM_013449;XM_005268596;XM_005268597;XM_005268599;XM_005268600;XM_005268602;XM_005268603;XM_005268604;XM_006719207;XM_006719208 AAB60864;AAH08965;AAI52740;BAA20773;BAG51228;BAH13943;CAH18232;EAW96949;EAW96950;EAW96951;NP_001287834;NP_038477;Q9UIF9;XP_005268653;XP_005268654;XP_005268656;XP_005268657;XP_005268659;XP_005268660;XP_005268661;XP_006719270;XP_006719271 Hs.314263 1661902;1745965;1751887;1778120;2117100;2122595;2144982;2166125;2187670;2217064 A008S22;BAZ2A_3784;M27132;RH124269;RH69868;RH78335;SHGC-105788;STS-N33267;T15358;WI-12396 DKFZp781B109;FLJ13768;FLJ13780;FLJ45876;KIAA0314;TIP5;WALp3;hWALp3 OTTHUMP00000243520;OTTHUMP00000243521;OTTHUMP00000243523;TTF-I interacting peptide 5;TTF-I-interacting protein 5;bromodomain adjacent to zinc finger domain protein 2A;transcription termination factor I-interacting protein 5 protein-coding ENSG00000076108 HGNC:962 10417 605682 VALIDATED 1320334 BAZ2B bromodomain adjacent to zinc finger domain, 2B ENCODES a protein that exhibits DNA binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene 2 2 2 q24.2 153787429 154084921 - 160175490 160473059 - 159693192 159712439 - 1580863;6480464;8554872 10662543;10819331;12477932;14702039;15489334;16189514;17081983;17370265;18482256;18976975;19322201;20802025;21738491;23667531 29994 C9JCA6;F6VJC3;H7BXK5;H7C092;H7C1I6;Q9UIF8 AB032255;AB040909;ABBA01004862;ABBA01004863;ABBA01004864;AC008277;AC009506;AC009961;AK000386;AK023566;AK027612;AK074895;AK127551;AK307683;AL080173;AL834381;AMYH02005071;AMYH02005072;AMYH02005073;AMYH02005074;BC012576;BC068527;BC107570;BX537650;BX641037;BX647250;CH471058;HG494787;NM_001289975;NM_013450;NR_110586;XM_005246488;XM_005246489;XM_005246492;XM_005246497;XM_005246500;XM_006712461;XM_006712462;XM_006712463;XM_006712464;XM_006712465;XM_006712466;XM_006712467;XM_006712468;XM_006712469;XM_006712470;XM_006712471;XM_006712472;XM_006712473;XM_006712474;XR_425476;XR_427178;XR_431488 AAH12576;AAI07571;AAI56488;AAY24281;BAA89212;BAA96000;BAB55231;BAC11274;CAB45759;CAD39044;CAE46023;EAX11403;EAX11404;EAX11405;EAX11406;EAX11407;NP_001276904;NP_038478;Q9UIF8;XP_005246545;XP_005246546;XP_005246549;XP_005246554;XP_005246557;XP_006712524;XP_006712525;XP_006712526;XP_006712527;XP_006712528;XP_006712529;XP_006712530;XP_006712531;XP_006712532;XP_006712533;XP_006712534;XP_006712535;XP_006712536;XP_006712537 Hs.470369;Hs.731786 1648553;1669810;1681306;1683192;1699516;1706146;1709686;1710802;1717739;1734248;1769338;1771611;1848027;2171069;5014051;5015619;5016478;5017773;5021872;5022463;5022578;5022651;5037552;5126961 165XA1;BAZ2B;D11S2921;D11S3114;D1S1423;D2S1307;D2S1500E;D2S1967;D2S2117;D2S2829;D3S1673;D8S2278;D8S2279;GDB:434012;RH103352;RH121777;RH65361;RH92799;RH98458;SHGC-80116;SHGC-84142;SHGC-86329;WI-20141;sY3084 AC009961.3;DKFZp434H071;DKFZp762I0516;FLJ45644;WALp4;hWALp4 OTTHUMP00000162897;OTTHUMP00000162898;bromodomain adjacent to zinc finger domain protein 2B protein-coding ENSG00000123636;ENSG00000226266 HGNC:963 09295 605683 VALIDATED 735389 BBC3 BCL2 binding component 3 This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] 19 19 19 q13.3-q13.4 44527934 44539878 - 47724079 47736023 - 47220822 47232853 - 1580863;2314029;2313994;6480464;6907045;634629 12913114;19095966;19641503 11463391;11463392;11572983;12477932;12574499;12963126;14550297;14585351;14634023;14702039;14993250;15143349;15174051;15547745;15574335;15595728;15694340;15721256;15731037;15731089;15905879;16007132;16091745;16151013;16462759;16608847;16697956;16983338;17011204;17024184;17267315;17289999;17360476;17368424;17388661;17393317;17616685;17698840;17934815;17996028;18215742;18324703;18354037;18367875;18573879;18579560;18811981;18835564;18941118;19028473;19050264;19064725;19380879;19421143;19439449;19444283;19587239;19638343;19641508;19652530;19660860;19679565;19737931;19815839;19851330;19966853;20075864;20206402;20413175;20418652;20419447;20421300;20430872;20478995;20723285;20813046;20978166;21042732;21044367;21048031;21120639;21151175;21153863;21159778;21364604;21364664;21486225;21490394;21613222;21633093;21699775;21730980;21863213;21868573;21887277;21997190;22021910;22086558;22130069;22159712;22174832;22178394;22283740;22286758;22359675;22394200;22446329;22714709;22763818;22773666;22997714;23001513;23220852;23243310;23321162;23340338;23475628;23517560;23532334;23873935;23916609;24127039;24236056;24265320;24452416;24830722 27113 Q96PG8;Q9BXH1 AA887822;ABBA01041015;ABBA01041016;ABBA01041017;ABBA01041018;AC008532;AF332558;AF354654;AF354655;AF354656;AK124984;AK298837;AMYH02036250;AMYH02036251;AMYH02036252;AMYH02036253;BC136481;BG258126;CH471126;NG_031991;NM_001127240;NM_001127241;NM_001127242;NM_014417;U82987;XM_005258740;XM_006723141 AAB51243;AAI36482;AAK31316;AAK39542;AAK39543;AAK39544;BAG60965;EAW57465;EAW57466;EAW57467;NP_001120712;NP_001120713;NP_001120714;NP_055232;Q96PG8;Q9BXH1;XP_005258797;XP_006723204 Hs.467020 1769759;2218736 BBC3_3813;RH70710 FLJ42994;JFY-1;JFY1;PUMA bcl-2-binding component 3;p53 up-regulated modulator of apoptosis APPROVED protein-coding ENSG00000105327 HGNC:17868 16165 605854 REVIEWED 2300355 BBIP1 BBSome interacting protein 1 BBIP10 functions in ciliogenesis and stabilization of cytoplasmic microtubules (Loktev et al., 2008 [PubMed 19081074]).[supplied by OMIM, Nov 2010] 10 10 10 q25.2 106390095 106410721 - 112658488 112679124 - 110898730 110919366 - 6480464;8554872 12477932;14702039;15164054;15489334;19081074;19549489;20301537;20603001;24026985 92482 A8MTZ0;E9PIK7 ABBA01063020;AK021501;AK025724;AK307126;AK307314;AL158163;AMYH02023801;BC015550;BC062778;BC073157;BC104248;BC104249;BC105804;BC113000;BC113001;BI552279;DB450918;NM_001195304;NM_001195305;NM_001195306;NM_001195307;NM_001243783 A8MTZ0;NP_001182233;NP_001182234;NP_001182235;NP_001182236;NP_001230712 Hs.232543;Hs.651480 1664595;1670371;1673808;1717557;1739127;1754713;1796486;1851165;2140131;2146685;5015961 D10S1524;D15S1477;PDCD4_1402;RH122083;RH44657;RH45457;RH68025;SHGC-133074;SHGC-35716;SHGC-64020;STS-AA001983 BBIP10;BBS18;NCRNA00081;bA348N5.3 BBSome-interacting protein 1;BBSome-interacting protein of 10 kDa;OTTHUMP00000231465;OTTHUMP00000231467;OTTHUMP00000231468;UPF0604 protein;non-protein coding RNA 81 APPROVED protein-coding ENSG00000214413 HGNC:28093 613605 VALIDATED 8698737 BBOX1-AS1 BBOX1 antisense RNA 1 p14.2 16344560 103695435 AC015756;AC016450;DA376689;DA865512;DB016334;KF455343;NR_125766;NR_125767;NR_125768 Hs.196133;Hs.628833 ncrna HGNC:50700 VALIDATED 732171 BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008] 11 11 11 p14.2 27207166 27294016 + 27062252 27149354 + 27040705 27127807 + 1580863;1300048;6480464;6907045 10526231;12477932;15489334;16169070;16344560;17110165;1735445;18029348;19056867;19240061;1962562;20379614;20599753;20877624;3110383;3378057;6497835;7156861;9753662 8424 E9PKC9;O75936 ABBA01060975;ABBA01060976;AC015756;AC016450;AF082868;AK290108;AK313422;AMYH02024498;BC011034;CH471064;CR456812;DA268467;DQ471856;DQ471857;DQ471858;DQ471859;DQ471860;DQ471861;DQ471862;DQ471863;DQ471864;DQ471865;DQ471866;DQ471867;DQ471868;DQ471870;KF455343;NM_003986;XM_005253159;XM_005253160;XM_005253161;XM_005253163;XM_006718344 AAC64066;AAH11034;ABF17859;ABF17860;ABF17861;ABF17862;ABF17863;ABF17864;ABF17865;ABF17866;ABF17867;ABF17868;ABF17869;ABF17870;ABF17871;ABM83703;ABM87023;ACE87221;BAF82797;BAG36214;CAG33093;EAW68290;EAW68291;NP_003977;O75936;XP_005253216;XP_005253217;XP_005253218;XP_005253220;XP_006718407 Hs.591996 1683964;1698930;1737057;1739895;1750767;2139404;2144695;5092818 A006G34;D11S2804;D11S4058;G32349;RH103034;RH79794;SHGC-102216;WI-18141 BBH;BBOX;G-BBH;gamma-BBH OTTHUMP00000231947;OTTHUMP00000231949;OTTHUMP00000231950;gamma-butyrobetaine dioxygenase;gamma-butyrobetaine hydroxylase;gamma-butyrobetaine,2-oxoglutarate dioxygenase 1 APPROVED protein-coding ENSG00000129151 HGNC:964 04498 603312 REVIEWED 1316858 BBS1 Bardet-Biedl syndrome 1 Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008] 11 11 11 q13 63598354 63621361 + 66278077 66301084 + 66510648 66533613 + 1579968;1579969;1601314;6480464;7240710;8554872;8699517 12524598;12677556;14993910 10577921;10577922;11096143;12118255;12477932;12567324;12837689;14702039;15314642;15489334;15517396;16327777;17065520;17574030;17980398;18000879;18669544;18766993;19077438;19150989;19615732;20301537;20301743;20801516;21097510;21520335;21906983;21926972;22410627;22940089;23143442;23559858;24500717;24691443;9039982 582 B4DYY3;E7EQH1;E9PJ28;E9PMB7;E9PPR3;E9PQD9;E9PQK2;E9PR55;Q8NFJ9 ABBA01024074;AF503941;AK027243;AK095638;AK294962;AK296311;AK302657;AMYH02024979;AP002748;BC047642;BC109064;BC109065;BX647612;CH471076;NG_009093;NM_024649 AAH47642;AAI09065;AAI09066;AAM92770;BAB15704;BAG58036;BAG59009;BAG63895;CAI46060;EAW74542;NP_078925;Q8NFJ9 Hs.502915 1698738;2116648 RH102931;SHGC-30733 BBS2L2;FLJ23590;MGC126183;MGC126184;MGC51114 BBS2-like protein 2;Bardet-Biedl syndrome 1 protein;OTTHUMP00000235218;OTTHUMP00000235220;OTTHUMP00000235221;OTTHUMP00000236623 APPROVED protein-coding ENSG00000174483;ENSG00000256349 HGNC:966 01950 209900;209901 REVIEWED 1605944 BBS10 Bardet-Biedl syndrome 10 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010] 12 12 12 q21.2 76404216 76408172 - 76738266 76742222 - 76344486 76348906 - 6480464;7240710;8554872;8699517 12477932;14702039;15489334;16344560;16582908;16823392;17101080;17106446;17160889;17980398;19190184;20193073;20301537;20301743;20472660;20801516;20805367;20827784;21900206;21906983;22053931;23000965;23219996;23403234;8125298 79738 Q8TAM1 ABBA01053548;AC117491;AI673014;AK027213;AK225585;AK304178;AMYH02026784;BC013795;BC026355;CH471054;DA095453;DR155669;GN088052;GN088054;NG_016357;NM_024685;XM_006719603 AAH13795;AAH26355;ADZ15961;BAB15695;BAH14128;CAX86889;CAX86890;EAW97322;EAW97323;NP_078961;Q8TAM1;XP_006719666 Hs.96322 1699188;2177157;2182723 G31485;RH103174;SGC44443 C12orf58;FLJ23560 Bardet-Biedl syndrome 10 protein;OTTHUMP00000190861 APPROVED protein-coding ENSG00000179941 HGNC:26291 08036 209900;610148 REVIEWED 1603548 BBS12 Bardet-Biedl syndrome 12 The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] 4 4 4 q27 121036879 121049116 + 123653857 123666098 + 122732702 122744943 + 6480464;7240710;8554872;8699517 12477932;14702039;17160889;19190184;20193073;20301537;20301743;20472660;20827784;22958920 166379 C9J8H7;Q6ZW61 ABBA01044741;AC053545;AK092949;AK123553;AMYH02010020;BC055426;BC065708;BX538148;CD359068;CH471056;NG_021203;NM_001178007;NM_152618 AAH55426;BAC04006;BAC85644;CAD98035;EAX05223;EAX05224;NP_001171478;NP_689831;Q6ZW61 Hs.400698 1697562;1777102;2119802 D4S2648;RH102291;SHGC-67243 C4orf24;FLJ35630;FLJ41559 Bardet-Biedl syndrome 12 protein;OTTHUMP00000164085;OTTHUMP00000196371 APPROVED protein-coding ENSG00000181004 HGNC:26648 08759 209900;610683 REVIEWED 732435 BBS2 Bardet-Biedl syndrome 2 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with six other BBS proteins.[provided by RefSeq, Jan 2009] 16 16 16 q21 41016278 41052025 - 56504301 56554008 - 56470389 56520096 - 70665;734635;1601311;1579971;1580863;6480464;7240710;8554872;8699517 11285252;15107855;17003356;8298649 11096143;11567139;12477932;12567324;12677556;12837689;12872256;14702039;15489334;16189514;16327777;16344560;17574030;18000879;18299575;19077438;19150989;19666486;19913121;20301537;20301743;20618352;20628086;20801516;21890473;21906983;21963094;22505724;22797925;23000965;24250222;24500717;8889548 583 H3BNS7;H3BQ79;H3BRL0;J3QKP7;J3QLW0;Q9BXC9 AB208905;ABBA01025246;AC009155;AC026461;AC092140;AF342736;AK027635;AK127290;AK289604;AK309068;AL834176;AMYH02032088;BC014140;BM982214;CH471092;DA437930;DB316257;NG_009312;NM_031885;XM_005256080;XM_005256081;XM_005256082 AAH14140;AAK28552;ABM83606;ABM86849;BAB55252;BAD92142;BAF82293;CAD38873;EAW82863;EAW82864;NP_114091;Q9BXC9;XP_005256137;XP_005256138;XP_005256139 Hs.333738 1644493;1771635;2109079;5022200;5022450;5022578;5037552 A004I06;BBS2_8224;D10S275;D1S1423;D8S2279;L18426;STS-N93740 BBS;MGC20703 Bardet-Biedl syndrome 2 protein;bardet-biedl syndrome 2 (human) APPROVED protein-coding ENSG00000125124 HGNC:967 05855 209900;606151 REVIEWED 1319306 BBS4 Bardet-Biedl syndrome 4 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Jan 2009] 15 15 15 q22.3-q23 49857583 49909622 + 72978520 73030817 + 72686179 72738476 + 1579971;1601311;6480464;7240710;8554872;8699517 15107855;17003356 11381270;12016587;12365916;12477932;12872256;14520415;14702039;15489334;15497446;17574030;18000879;18029348;18299575;19077438;20301537;20301743;20379614;20508983;20801516;21145461;21906983;22219648;23554981;23716571;24691443;7711739;8889548;9126487 585 H3BN76;H3BPP7;H3BQV7;H3BRY9;H3BSE2;H3BSL2;H3BU58;H3BUQ7;H3BUU1;H3BV56;Q96RK4 ABBA01038721;ABBA01038722;ABBA01038723;ABBA01038724;AC009712;AF359281;AK075321;AK298922;AK302224;AK303706;AK310106;AK314507;AMYH02030762;AMYH02030763;AMYH02030764;AMYH02030765;AY457143;BC008923;BC027624;BI562463;BM664845;BX647855;CH471082;DC320069;DC372967;KF456097;NG_009416;NM_001252678;NM_033028;NR_045565;NR_045566;XM_006720623;XM_006720624;XM_006720625 AAH08923;AAH27624;AAK58868;AAS13441;ABM82445;ABM85635;BAC11547;BAG37107;BAG61027;BAG64690;BAH13654;EAW77912;EAW77913;NP_001239607;NP_149017;Q96RK4;XP_006720686;XP_006720687;XP_006720688 Hs.208681 1672642;1700188 D15S1270;RH103709 Bardet-Biedl syndrome 4 protein;OTTHUMP00000164777 APPROVED protein-coding ENSG00000140463 HGNC:969 08982 209900;600374 REVIEWED 1321789 BBS5 Bardet-Biedl syndrome 5 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 163955114 163982098 + 170335967 170363165 + 169479496 169506655 + 1579974;1580863;6480464;7240710;8554872;8699517 15137946 10053027;11076863;11230166;11256614;12477932;14702039;15342556;15489334;15489336;15815621;16327777;16381901;17574030;18203199;19077438;20301537;20301743;20801516;8889549;9888993 129880 E9PBE3;F8WBR7;Q8N3I7 AA043704;ABBA01014888;ABBA01014889;ABBA01014890;AC093899;AK097935;AK312680;AL834305;AMYH02005185;AY604003;AY604004;BC044593;BP311042;CA336791;CD245392;CH471058;CS300753;H09195;NG_011567;NM_152384 AAH44593;AAT08182;AAT08183;AAY24116;CAD38975;CAK32417;CAL38098;EAX11276;EAX11277;EAX11278;EAX11279;NP_689597;Q8N3I7 Hs.233398 1653712;5020274 D2S1854;L18441 Bardet-Biedl syndrome 5 protein;OTTHUMP00000163062;OTTHUMP00000204766;OTTHUMP00000221822 APPROVED protein-coding ENSG00000163093 HGNC:970 10353 209900;603650 REVIEWED 1603660 BBS9 Bardet-Biedl syndrome 9 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 7 7 7 p14 33150951 33627167 + 33169144 33645680 + 33129244 33606068 + 6480464;7240710;8699517;8554872 10221542;12477932;12618763;12690205;14702039;15489334;16380913;17574030;18029348;18349106;20161521;20301537;20301743;20379614;20801516;22479622;23160099;24250222 27241 C9JJ08;C9JRR5;F8WCG5;H7BZ69;Q3SYG4 AACC02000103;ABBA01056862;ABBA01056863;ABBA01056864;ABBA01056865;ABBA01056866;ABBA01056867;ABBA01056868;ABBA01056869;ABBA01056870;ABBA01056871;ABBA01056872;AC006195;AC007312;AC074338;AC078833;AC087070;AF095769;AF095770;AF095771;AK057660;AK091361;AK297436;AK314627;AL704922;AMYH02015493;AMYH02015494;AMYH02015495;AMYH02015496;AMYH02015497;BC032715;BC103831;BI254810;BX647385;CH471073;NG_009306;NM_001033604;NM_001033605;NM_014451;NM_198428;U85994;U85995;U85997;U87408;XM_005249700;XM_005249701;XM_006715687;XM_006715688 AAB46606;AAB47568;AAB61918;AAB61919;AAD25980;AAD25981;AAH32715;AAI03832;BAG51948;BAG52340;BAG59863;EAL24466;EAL24467;EAW94015;EAW94016;EAW94017;EAW94018;NP_001028776;NP_001028777;NP_055266;NP_940820;Q3SYG4;XP_005249757;XP_005249758;XP_006715750;XP_006715751 Hs.372360 1643644;1664815;1710026;1711808;1711810;1711812;1711814;1711816;1715161;1716343;1726423;1726543;1735636;1753113;1753259;1775086;1776119;1786316;1786452;1849003;1849026;1851466;1855944;2110279;2117528;2117533;2118248;2119313;2146539;2147940;2150895;2154300;2156448;2164966;2167973;2172548;2176129;2182952;5092660 A005O06;AFMb073zc9;B1__4409;D7S1654;D7S2045E;D7S2211;D7S2369;D7S2758;D7S3023;G16033;G16034;G16035;G17153;G32246;G49431;G49432;G49433;G49434;G49435;G62591;G62652;GDB:1317160;GDB:1317164;GDB:1317274;GDB:1317524;GDB:1317644;GDB:1317780;GDB:1318148;GDB:3754215;RH119831;RH121349;SHGC-110128;SHGC-154772;SHGC-172299;SHGC-68722;SHGC-82287;U10572;WI-14062;WI-16854 B1;C18;D1;MGC118917;PTHB1 OTTHUMP00000158833;OTTHUMP00000202918;OTTHUMP00000202919;OTTHUMP00000202920;PTH-responsive osteosarcoma B1 protein;bardet-Biedl syndrome 9 protein;parathyroid hormone-responsive B1 gene protein APPROVED protein-coding ENSG00000122507 HGNC:30000 16262 209900;607968 REVIEWED 1319511 BBS7 Bardet-Biedl syndrome 7 This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Feb 2011] 4 4 4 q27 120131451 120177481 - 122745484 122791652 - 121824329 121870497 - 1579975;6480464;7240710;8699517;8554872 12567324 11567139;12477932;14702039;15489334;15815621;16327777;16344560;17574030;18000879;19077438;19093007;19402160;20080638;20195357;20301537;20301743;20472660;20603001;20801516;21890473;21906983 55212 H0Y973;Q8IWZ6 ABBA01044731;ABBA01044732;AC079341;AF521643;AF521644;AI220177;AK001577;AK308076;AK309803;AMYH02010013;BC032691;BF431967;BG720664;BM998707;BQ940332;BX510161;CH471056;DB139794;NG_009111;NM_018190;NM_176824;XM_005263106 AAH32691;AAO16025;AAO16026;AAY40970;ABM81814;ABM87809;BAA91767;EAX05244;EAX05245;NP_060660;NP_789794;Q8IWZ6;XP_005263163 Hs.591694 1663932;1665396;2130253 SHGC-50595;STS-N20583;WI-3537 BBS2L1;FLJ10715 BBS2-like 1;BBS2-like protein 1;Bardet-Biedl syndrome 7 protein;OTTHUMP00000164091;OTTHUMP00000219992 2289563 BW441_H APPROVED protein-coding ENSG00000138686 HGNC:18758 07399 209900;607590 REVIEWED 1320282 BBX bobby sox homolog (Drosophila) ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN bone development (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2-methylcholine 3 3 3 q13.1 105638147 105926340 + 107241783 107530176 + 107522936 107811329 + 1580863;6480464;8554872 11230166;11680820;12477932;14702039;15489334;15728473;16344560;19240061;19247474;19322201;19471022;19953087;21693764;21832049;22939624;23752268;24332808;24816145;8619474;8889548;9110174 56987 A8K6U2;C9IYG9;C9IYS9;C9J067;C9J0J4;C9J8D0;C9JA69;C9JC04;C9JD74;C9JE62;C9JIZ2;C9JNU3;C9JSH4;C9JYU6;C9JZA0;C9K0D1;H7C1Q0;H7C1U1;Q8WY36 ABBA01061708;ABBA01061709;ABBA01061710;ABBA01061711;AC068765;AC072044;AC117477;AF052174;AF161457;AF168718;AF276948;AF276949;AF283775;AF454941;AF454942;AI168295;AK025944;AK026082;AK057010;AK130627;AK291757;AK307668;AK314434;AL136769;AL834307;AMYH02007384;AMYH02007385;AMYH02007386;AMYH02007387;AMYH02007388;AMYH02007389;AMYH02007390;AW131333;AY527413;BC012837;BC110903;BC131718;CH471052;CN479047;DA218136;NM_001142568;NM_001276286;NM_020235;XM_005247642;XM_005247643;XM_005247644;XM_005247645;XM_005247646;XM_006713706;XM_006713707;XM_006713708;XM_006713709 AAF29017;AAF87320;AAH12837;AAI10904;AAI31719;AAL58870;AAL58871;AAL68984;AAL68985;ACE86845;ACE87532;BAB15290;BAB15355;BAC85398;BAF84446;CAB66703;CAD38977;EAW79738;EAW79739;EAW79740;EAW79741;EAW79742;EAW79743;NP_001136040;NP_001263215;NP_064620;Q8WY36;XP_005247699;XP_005247700;XP_005247701;XP_005247702;XP_005247703;XP_006713769;XP_006713770;XP_006713771;XP_006713772 Hs.124366;Hs.736885 1339705;1648873;1652995;1659620;1665245;1668564;1673850;1675090;1718787;1727361;1740075;1757103;1776953;1797082;2159051 BBX;D3S2308;D3S2443;D3S3099;D3S3499;D3S4229;G63088;RH123097;SHGC-144489;SHGC-58059;SHGC-77195;STS-N31990;WI-16360;WI-16426;WI-17954 ARTC1;HBP2;HSPC339;MDS001 Ag recognized by Treg cells 1;HMG box transcription factor BBX;HMG box-containing protein 2;OTTHUMP00000197189;OTTHUMP00000197190;OTTHUMP00000197192;OTTHUMP00000197193;OTTHUMP00000197194;x 001 protein protein-coding ENSG00000114439 HGNC:14422 10688 VALIDATED 736888 BCAN brevican This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 1 1 1 q31 129682549 129700133 + 156611740 156629324 + 156641948 156659532 + 6480464;8554872 10986281;11038354;11054543;11873941;12477932;12975309;14522884;14550776;14702039;14741698;15489334;16061654;16133547;16344560;18029348;18611854;19910543;20950796;21997179;22930747;24250222;7592978;9294172 63827 Q5T3I6;Q5T3I7;Q5T3I8;Q96GW7;V9GXZ8;V9GY88 AB209570;ABBA01016652;AF228710;AF229053;AK126588;AK289759;AL137504;AL365181;AL590666;AMYH02001977;AW298823;AY007241;AY358372;BC009117;BC010571;BC013234;BC022938;BC023209;BC027971;BC029313;BC029348;BC035457;CH471121;DB297352;NG_030013;NM_021948;NM_198427 AAG01897;AAG23134;AAG23135;AAH09117;AAH22938;AAH27971;AAQ88738;BAD92807;BAF82448;CAB70776;EAW52927;EAW52928;EAW52929;EAW52930;EAW52931;NP_068767;NP_940819;Q96GW7 Hs.516904 1665834;1711012;2156957;2161060;5037744 D1S3694;RH63843;SHGC-84885;WI-15716;WI-15733 CSPG7;MGC13038 BEHAB;OTTHUMP00000032164;OTTHUMP00000032165;brain-enriched hyaluronan-binding protein;brevican core protein;brevican proteoglycan;chondroitin sulfate proteoglycan 7;chondroitin sulfate proteoglycan BEHAB;chondroitin sulfate proteoglycan BEHAB/brevican APPROVED protein-coding ENSG00000132692 HGNC:23059 02644;09821 600347 REVIEWED 68545 BCAM basal cell adhesion molecule (Lutheran blood group) This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 19 19 19 q13.2 42115754 42128094 + 45312316 45324678 + 44809059 44821421 + 1580863;6480464;8554872 11133776;11319237;12244066;12477932;12493773;12754519;14641871;14755370;15238148;15278364;15342556;15489334;15790807;16236823;16335952;16584446;17087659;17638854;18067501;18302987;18510579;18514010;18635166;18815288;18972067;19056867;19065527;19201739;19667067;20370913;20562314;20566895;20655789;21139048;21434869;21858073;22404936;22941965;23001842;23125034;23160466;23168236;23192594;23406016;23421542;24036115;24616094;2907851;3810828;7777537;7954395;8781446;8889548;9166867;9192786;9642222 4059 K7ENU8;K7ERB7;P50895 ABBA01040885;ABBA01040886;AC092306;AMYH02036181;AY845133;AY927517;BC036745;BC050450;BC128254;BM985314;BP352029;BU838291;BX387680;CH471126;HE572749;NG_007480;NM_001013257;NM_005581;X80026;X83425 AAH50450;AAV88096;CAA56327;CAA58449;CCC42285;EAW57294;EAW57295;EAW57296;EAW57297;NP_001013275;NP_005572;P50895 Hs.625725 1677332;1680663;1682519;1694734 RH121966;RH81078;RH91124;RH91463 AU;CD239;LU;MSK19 Auberger b antigen;B-CAM cell surface glycoprotein;B-cell adhesion molecule;F8/G253 antigen;antigen identified by monoclonal antibody F8;basal cell adhesion molecule;basal cell adhesion molecule (Lu and Au blood groups);glycoprotein 95kDa;lutheran antigen;lutheran blood group glycoprotein APPROVED protein-coding ENSG00000187244 HGNC:6722 00197 111200;247420;612773 REVIEWED 1347055 BCAP29 B-cell receptor-associated protein 29 INVOLVED IN osteoblast differentiation; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; calcitriol 7 7 7 q22.3 102025694 102069076 + 107220422 107263762 + 107579977 107623317 + 737633;1580863;6480464;8554872 12477932 10737800;10931946;11591653;12853948;12886015;14702039;15342556;15489334;16210410;16344560;18097552;19322201;19342655;20237496;20677014;21068099;21378988;21890473;21906983;21963094;24816145;8889548 55973 A6NME1;B7Z2L0;C9IYK6;C9JGJ9;C9JP06;C9JTE9;E9PAJ1;F8WB99;F8WDG1;H0Y7N8;H7C5E2;Q9UHQ4 AA826200;ABBA01057906;AC004839;AC078937;AF126020;AI684765;AK000878;AK289401;AK294824;AK298594;AMYH02016516;AW978976;AW994087;BC008478;BE006248;BF434482;BG616638;BG776708;BG818947;BM023571;BM931263;BP261060;BQ188814;BQ230678;BT006981;BX101190;BX457671;BX647653;CH236947;CH471070;CK820004;DA569360;DA717500;EB388415;H40966;NM_001008405;NM_018844;NR_027830;XM_006716051 AAC83971;AAF17230;AAH08478;AAP35627;BAF82090;BAH11896;BAH12820;EAL24390;EAW83405;EAW83406;EAW83407;EAW83408;EAW83409;EAW83410;EAW83411;NP_001008405;NP_061332;Q9UHQ4;XP_006716114 Hs.303787 1647334;1652252;1657563;1659881;1677426;1848268;1851064;2138176;2163634;5037552 A007D21;D7S2087E;D7S2317;D8S2279;GDB:1318014;RH12603;RH91976;SGC30522;SHGC-56363;WI-15161 BAP29;DKFZp686M2086;FLJ53907 BCR-associated protein 29;OTTHUMP00000206633;OTTHUMP00000206634;OTTHUMP00000206639;OTTHUMP00000214583;OTTHUMP00000214584;OTTHUMP00000214585;OTTHUMP00000214586 protein-coding ENSG00000075790 HGNC:24131 16541 VALIDATED 9587204 BCAP31P1 B-cell receptor-associated protein 31 pseudogene 1 16 16 p11.2 33790429 33794018 - 33987962 33991551 - 100194425 AC133561;AMYH02031946;NG_009002 pseudo HGNC:51323 INFERRED 9587244 BCAP31P2 B-cell receptor-associated protein 31 pseudogene 2 16 16 p11.2 32881304 32884893 + 32869983 32873572 + 100194426 AC142086;AMYH02031902;NG_009003 pseudo HGNC:51324 INFERRED 1349319 BCAP31 B-cell receptor-associated protein 31 This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012] X X X q28 153199631 153223882 - 152965947 152990201 - 153700492 153724746 - 1580863;6480464;6907045;7483567;7240710;8554872;8699517 24011989 10958671;11042173;11076863;11163199;11561007;11851433;11917123;11992258;12477932;12529377;12594175;12605685;12668660;12886015;14502241;14702039;14741744;15024066;15161933;15254227;15294914;15489334;15489336;15772651;15933766;16196087;16344560;16381901;16858427;17003517;17056546;17255364;17401199;17500595;17558393;18029348;18287538;18555783;18684816;19165151;19221507;19342655;19519245;19946888;20360068;20639865;21081644;21103663;21139048;21151997;21183955;21285974;21527846;21890473;21906983;21947079;21963094;21988832;22053931;22056873;22182703;22190034;22304920;22505724;23246001;23284715;24332808;24395279;24816145;7806238;8125298;8612576;8706661;9334338;9396746;9804161 10134 C9J0M4;C9JM14;C9JMD7;C9JQ75;C9JSP1;P51572 ABBA01045364;ABBA01045365;ABBA01045366;ABBA01045367;AI123868;AK057613;AK125631;AK222494;AK223059;AMYH02040842;AU132745;BC014323;BC065292;BE729820;BG779815;BX474419;CH471172;CX164660;DA134013;DA819112;NG_023231;NM_001139441;NM_001139457;NM_001256447;NM_005745;U36341;U52111;X81109;Z31696 AAA79508;AAH14323;AAH65292;BAD96214;BAD96779;BAG51941;BAG54226;CAA57015;CAA83501;CAL37717;EAW72818;EAW72819;EAW72820;EAW72821;EAW72822;EAW72823;EAW72824;EAW72825;NP_001132913;NP_001132929;NP_001243376;NP_005736;P51572 Hs.522817 1336247;1683058;1702226;1702456;1744517;1744549;1744551;2126093;2147947;2182925;5016666 D5S651;DXS7418;DXS7452;GDB:511618;GDB:523970;GDB:524010;RH70615;RH71460;RH77716;RH79936;UniSTS:99200 6C6-AG;BAP31;CDM;DDCH;DXS1357E 6C6-AG tumor-associated antigen;BCR-associated protein Bap31;OTTHUMP00000025977;OTTHUMP00000025978;OTTHUMP00000025979;OTTHUMP00000025980;OTTHUMP00000025981;OTTHUMP00000025983;p28 Bap31 APPROVED protein-coding ENSG00000185825 HGNC:16695 02319 300398;300475 REVIEWED 9587245 BCAR1P1 breast cancer anti-estrogen resistance 1 pseudogene 1 15 15 20278178 20279587 - 20072925 20074334 - 100533717 ABBA01114335;AC087386;AMYH02029973;NG_028857 pseudo HGNC:51325 INFERRED 9587272 BCAR1P2 breast cancer anti-estrogen resistance 1 pseudogene 2 15 15 21285367 21286776 - 21080038 21081447 - 100533718 AC126335;AMYH02029998;NG_028859 pseudo HGNC:51326 INFERRED 1349826 BCAR2 breast cancer anti-estrogen resistance 2 9259413 9565 HGNC:972 734116 BCAR1 breast cancer anti-estrogen resistance 1 BCAR1, or CAS, is an Src (MIM 190090) family kinase substrate involved in various cellular events, including migration, survival, transformation, and invasion (Sawada et al., 2006 [PubMed 17129785]).[supplied by OMIM, May 2009] 16 16 16 q23.1 59556476 59596268 - 75262928 75301951 - 75229030 75268053 - 1579979;734988;6480464;6484113 11605729;9697697 10026197;10085298;10092204;10093970;10187783;10208419;10320483;10329689;10339567;10487518;10502414;10587647;10639512;10639513;10675905;10692442;10712510;10739664;10747099;10753828;10787408;10799562;10801330;10822386;11032817;11036077;11071869;11113628;11146654;11158326;11181995;11278335;11278916;11369773;11432831;11493697;11514617;11577104;11593413;11607844;11779709;11782456;11820787;11839772;12119061;12135674;12397603;12446789;12477932;12517963;12529399;12601080;12615911;12618476;12714323;12738793;12819203;12893833;12972425;14657239;14688263;14702039;15020686;15121874;15448007;15492270;15588985;15592455;15673687;15728191;15778465;15784259;15866871;15923424;15951569;16020549;16040804;16099422;16105984;16169070;16212419;16245368;16267043;16344560;16413489;16440329;16581250;16597701;16600665;16644720;16964243;17038317;17081983;17129785;17251438;17474147;17616674;17979178;17982677;18078823;18095869;18164686;18321991;18477472;18725541;18835194;18842495;19029090;19086031;19329671;19330798;19331827;19357231;19380743;19412734;19732724;19822523;19844255;19940159;20688056;20961652;21047529;21245381;21291860;21306301;21630091;21765937;21855630;21890473;21937722;21952639;21957230;22081014;22082156;22084245;22106368;22144090;22241677;22395610;22431919;22476538;22558353;22711540;22863883;22892392;22974441;23000965;23042269;23152477;23239970;23287717;23345605;23457408;23665963;23740246;23839042;23872147;23904007;24250222;24284072;24584939;7479864;7780740;8070403;8413311;8649368;8649427;8668148;8683103;8700507;8810278;8887669;8889548;8940134;8978305;8995252;8999909;9020138;9148935;9188452;9285683;9295052;9360968;9360983;9366405;9425168;9472046;9498705;9581808;9621077;9697683;9748234;9748319;9759889;9920935 9564 B2RBL9;B3KWE2;F5H855;H3BN62;H3BP62;H3BQJ7;H3BSB2;H3BSY4;H3BTB0;H3BTL5;H3BU42;H3BVF0;P56945 AB040024;ABBA01058126;ABBA01058127;AC009078;AF218451;AJ242987;AK026121;AK027608;AK074958;AK124526;AK124815;AK124844;AK125719;AK127004;AK293808;AK294513;AK295809;AK302617;AK314722;AMYH02032396;AMYH02032397;AY545071;BC014402;BC062556;BU730553;CH471114;DA418642;DC310094;DC317947;NM_001170714;NM_001170715;NM_001170716;NM_001170717;NM_001170718;NM_001170719;NM_001170720;NM_001170721;NM_014567;XM_005256258;XM_005256259;XM_005256260;XM_006721348;XM_006721349 AAF27527;AAH14402;AAH62556;AAS48631;ACE86415;ACE87091;BAA92711;BAB55230;BAC11315;BAG37266;BAG54047;BAG54099;BAG54104;BAG54238;BAG57215;BAG57726;BAG58627;BAH13763;CAB75875;EAW95651;EAW95652;EAW95653;EAW95654;EAW95655;EAW95656;NP_001164185;NP_001164186;NP_001164187;NP_001164188;NP_001164189;NP_001164190;NP_001164191;NP_001164192;NP_055382;P56945;XP_005256315;XP_005256316;XP_005256317;XP_006721411;XP_006721412 Hs.479747 1341608;1712074;1720329;1766915;1795416 BCAR1_714;D16S3051;G54085;RH123913;SHGC-152387 CAS;CAS1;CASS1;CRKAS;FLJ12176;FLJ45059;P130Cas Cas scaffolding protein family member 1;Crk-associated substrate p130Cas;OTTHUMP00000174941;OTTHUMP00000174942;breast cancer anti-estrogen resistance protein 1;v-crk-associated tyrosine kinase substrate APPROVED protein-coding ENSG00000050820 HGNC:971 04248 602941 VALIDATED 2299009 BCAR4 breast cancer anti-estrogen resistance 4 (non-protein coding) INTERACTS WITH tamoxifen 16 16 16 p13.13 12088006 12097008 - 11913687 11922689 - 11819830 11828832 - 6480464 16778085;20859285;21506106 400500 ABBA01006834;AC010654;AMYH02031481;AMYH02031482;BX107175;HE601934;HG507735;HG507737;HG507738;HG507739;NR_024049;NR_024050 CCD83327 Hs.24611 1848316 SHGC-61055 RP11-486I11.1 APPROVED ncrna ENSG00000262117 HGNC:22170 613746 VALIDATED 1323276 BCAR3 breast cancer anti-estrogen resistance 3 Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 1 1 1 p22.1 92281411 92401455 - 94027343 94312706 - 93561786 93847150 - 1580863;6480464;8554872 10187783;12477932;12517963;12975309;14702039;15146197;15489334;15642172;15671247;16273093;16344560;16710414;16964243;17081983;17270363;17353931;17427198;17616674;18722344;19454314;19913121;19940159;20628086;21262352;21832049;21988832;22711540;23762409;24216110;24584939;8880875;9436634;9582273 8412 B3KNL6;B3KP06;O75815 ABBA01045519;ABBA01045520;ABBA01045521;ABBA01045522;ABBA01045523;AF124250;AK027785;AK055442;AK301570;AK310970;AL049796;AL109613;AL359820;AL512488;AL833121;AMYH02001501;AMYH02001502;AMYH02001503;AMYH02001504;AMYH02001505;AY358996;BC028477;BC039895;BQ015705;CH471097;CN337133;DA057195;DA745974;KF510739;NM_001261408;NM_001261409;NM_001261410;NM_003567;U92715 AAC39777;AAD28245;AAH39895;AAQ89355;ACE87803;ACT64456;BAG51378;BAG51518;BAG63064;EAW73065;EAW73066;EAW73067;EAW73068;NP_001248337;NP_001248338;NP_001248339;NP_003558;O75815 Hs.36958 1651149;1657995;1665824;1670638;1757223;1778402;1849766;1849768;1853598;1854370;2115094;2130441;2155675 A001Z29;AL009351;G19821;RH11826;RH18230;RH64611;SHGC-144640;SHGC-33752;SHGC-75137;SHGC-75138;SHGC-75160;SHGC-75163;WI-18126 KIAA0554;NSP2;SH2D3B OTTHUMP00000011959;OTTHUMP00000011960;OTTHUMP00000011961;OTTHUMP00000011962;SH2 domain-containing protein 3B;breast cancer anti-estrogen resistance protein 3;breast cancer antiestrogen resistance 3 protein;dJ1033H22.2 (breast cancer anti-estrogen resistance 3);novel SH2-containing protein 2 APPROVED protein-coding ENSG00000137936 HGNC:973 05268 604704 REVIEWED 1315129 BCAS2 breast carcinoma amplified sequence 2 INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); RNA splicing, via transesterification reactions (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN cell junction; DNA replication factor A complex; nucleus; INTERACTS WITH (+)-catechin; cobalt dichloride; copper(2+) sulfate 1 1 1 p13.2 113339412 113353499 - 115110178 115124265 - 114567557 114581644 - 1580863;6480464;6907045 10403562;11101529;12169396;12406557;12429849;12477932;15489334;15694360;16159877;16710414;17332742;17353931;19903847;20176811;20360068;21139048;21145461;21536736;21906983;21963094;21988832;22365833;22939629;23084401;23314748;23455922;24189344;24332808;24457600;24667650;24816145;8125298;9731529 10286 B2R7W3;O75934 AB020623;AB451245;AB451369;ABBA01068464;AF081788;AK222637;AK313141;AL390241;AMYH02001782;AMYH02001783;BC005285;BC012623;BC022880;BC039238;BF184377;BT019390;CH471122;CQ831058;CR542037;NM_005872 AAC64059;AAH05285;AAH12623;AAH22880;AAV38197;ABM83455;ABW03501;ACE87016;ACE87704;BAA34863;BAD96357;BAG35960;BAG70059;BAG70183;CAG46834;CAH05197;EAW56602;EAW56603;EAW56604;NP_005863;O75934 Hs.22960 1739815;2170546;2190561 D1S2509E;EST28B4;SHGC-36835 DAM1;SPF27;Snt309 DNA amplified in mammary carcinoma 1 protein;OTTHUMP00000013668;breast carcinoma-amplified sequence 2;pre-mRNA-splicing factor SPF27;spliceosome associated protein, amplified in breast cancer;spliceosome-associated protein SPF 27 protein-coding ENSG00000116752 HGNC:975 05777 605783 VALIDATED 1351231 BCAS1 breast carcinoma amplified sequence 1 This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Jul 2008] 20 20 20 q13.2 49264729 49391950 - 52560079 52687304 - 53943540 54070765 - 6480464;8554872 10857754;11148209;11780052;12477932;14567997;15489334;15583422;17353931;18976975;20379614;20889312;8125298;8758909;9671742 8537 B4DFL4;B4E2C4;G3XAF7;H0Y542;H7C1E7;O75363 ABBA01052869;ABBA01052870;AC004501;AC005220;AF041260;AK225656;AK294135;AK294150;AK295318;AK304213;AK308384;AK311215;AK315220;AK316038;AL354801;AMYH02037305;AMYH02037306;BC024044;BC126346;BC126348;CH471077;CR749643;KF495690;NM_003657;XM_005260587;XM_005260589;XM_005260590;XM_005260591;XM_005260592;XM_005260593;XM_005260594;XM_005260595;XM_005260596 AAC39896;AAH24044;AAI26347;AAI26349;ADR83077;ADR83308;BAG37652;BAG57463;BAG57475;BAG58295;BAG65086;BAH14409;CAH18437;EAW75574;EAW75575;EAW75576;NP_003648;O75363;XP_005260644;XP_005260646;XP_005260647;XP_005260648;XP_005260649;XP_005260650;XP_005260651;XP_005260652;XP_005260653 Hs.400556 1334718;1645838;1665329;1667221;1854203;2121816;2122549;2137350;2137352;2140881 A004M22;AL022246;D20S1085;D20S720;D6S1155E;RH47737;RH78040;STS-Z41321;Z94303;Z94440 AIBC1;NABC1 OTTHUMP00000031313;OTTHUMP00000165942;OTTHUMP00000165943;amplified and overexpressed in breast cancer;breast carcinoma-amplified sequence 1;novel amplified in breast cancer 1 APPROVED protein-coding ENSG00000064787 HGNC:974 04273 602968 REVIEWED 5128965 BCAS2P2 breast carcinoma amplified sequence 2 pseudogene 2 1 1 1 99119723 99120345 - 100858592 100859214 - 100393036 100393658 - 100421045 ABBA01045439;AC104457;AMYH02001555;NG_026962 pseudo HGNC:39595 INFERRED 5128999 BCAS2P3 breast carcinoma amplified sequence 2 pseudogene 3 13 13 13 q31.1 60640336 60640998 + 79740362 79741024 + 79166227 79166889 + 100128339 ABBA01021685;AL161892;AMYH02028337;NG_021971 pseudo HGNC:39596 INFERRED 5129001 BCAS2P1 breast carcinoma amplified sequence 2 pseudogene 1 11 11 11 q14.1 80152858 80158406 + 82843080 82845400 + 83132038 83134358 + 100127960 ABBA01017366;AP000873;NG_021825 pseudo HGNC:39594 INFERRED 1352594 BCAS4 breast carcinoma amplified sequence 4 FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 5-fluorouracil 20 20 20 q13.13 46115734 46197974 + 49411467 49493714 + 50794894 50877177 + 6480464 11780052;12378525;12477932;14702039;15342556;15489334;21906983 55653 H7C4Y8;Q8TDM0 ABBA01052786;ABBA01052787;ABBA01052788;ABBA01052789;ABBA01052790;AF361220;AJ511266;AK000502;AL031680;AL133228;AMYH02037244;AMYH02037245;AMYH02037246;BC038381;BC047337;BC056883;BP212127;CH471077;KF456936;NM_001010974;NM_017843;NM_198799 AAH38381;AAH47337;AAL99633;BAA91209;CAD53579;EAW75613;EAW75614;NP_001010974;NP_060313;NP_942094;Q8TDM0 Hs.381178 1772685;2149946;2220552 RH65330;SHGC-64933;UniSTS:484435 CNOL;FLJ20495 BCAS4/BCAS3 fusion;OTTHUMP00000031272;OTTHUMP00000031273;OTTHUMP00000031274;OTTHUMP00000215950;breast carcinoma amplified sequence 4/3 fusion protein;breast carcinoma-amplified sequence 4 protein-coding ENSG00000124243 HGNC:14367 06314 607471 VALIDATED 1319844 BCAS3 breast carcinoma amplified sequence 3 ENCODES a protein that exhibits acetyltransferase activator activity; beta-tubulin binding; chromatin binding; INVOLVED IN cellular response to estrogen stimulus; positive regulation of catalytic activity; positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Breast Neoplasms; FOUND IN cytoplasm; nucleus; transcriptionally active chromatin; INTERACTS WITH 3-methylcholanthrene; aflatoxin B1; benzo[a]pyrene 17 17 17 q23 57855963 58571253 + 58755172 59470199 + 60677811 61392838 + 1580863;2317828;6480464;8554872 16855396 12378525;12477932;14702039;15489334;16344560;16617102;17505058;18030336;18391951;20383146;20546612;20548946;21742584;21906983;22610502;22797727;23251661;23263486;23535033;8125298 54828 K7EIE2;K7EIR7;K7EJH7;K7EJU7;K7EKB0;K7ELH0;K7EML5;K7EQA6;K7ESE9;Q05D99;Q9H6U6 ABBA01035385;ABBA01035386;ABBA01035387;ABBA01035388;ABBA01035389;ABBA01035390;ABBA01035391;ABBA01035392;ABBA01035393;ABBA01035394;ABBA01035395;ABBA01035396;ABBA01035397;ABBA01035398;ABBA01035399;ABBA01035400;ABBA01035401;AC005746;AC005856;AC005884;AC015876;AC079005;AC110602;AF260268;AF361219;AJ511332;AJ518105;AJ518836;AK000135;AK022526;AK023054;AK025510;AK225757;AK304791;AK314744;AL831895;AMYH02033725;AMYH02033726;AMYH02033727;AMYH02033728;AMYH02033729;AMYH02033730;AMYH02033731;AMYH02033732;AMYH02033733;AMYH02033734;AMYH02033735;AMYH02033736;AMYH02033737;AMYH02033738;AMYH02033739;AMYH02033740;AMYH02033741;BC001250;BC013841;BC017390;BC029983;BC033220;BC036280;BC117275;BC143386;BC143387;BX648103;CA444316;CH471179;DA188234;DA789232;KF456302;NM_001099432;NM_017679;XM_005257472;XM_005257473;XM_005257474;XM_005257475;XM_005257476;XM_005257477 AAF70324;AAH01250;AAH17390;AAI17276;AAI43387;AAI43388;AAL99632;BAA90966;BAB14078;BAB14380;BAB15156;BAG37284;BAG65541;CAD38568;CAD54076;CAD57723;CAD57724;EAW51410;EAW51411;EAW51412;EAW51413;EAW51414;EAW51415;EAW51416;NP_001092902;NP_060149;Q9H6U6;XP_005257529;XP_005257530;XP_005257531;XP_005257532;XP_005257533;XP_005257534 Hs.655028 1335941;1654952;1662022;1675734;1681046;1698070;1718409;1729851;1778005;1794386;1794388;1794392;1794394;2116860;2147771;2149297;2164941;2165830;2173837;2176565;2190839;5020843;5120227;5120917;7186314 A008N15;AFMa348zg1;D17S1838;D17S603;D17S688;FCA082;GDB:213539;PMC311067P2;PMC311067P3;PMC311067P5;PMC311067P6;RH102567;RH11846;RH122979;RH45637;RH46138;RH77934;RH78352;RH79698;RH99142;SHGC-36265;STS-N93418;STS-T62860;WI-18428 DKFZp686O1527;FLJ20128;GAOB1;MAAB;MGC4973 BCAS4/BCAS3 fusion;breast carcinoma amplified sequence 4/3 fusion protein;breast carcinoma-amplified sequence 3;metastasis associated antigen of breast cancer;protein Maab1 protein-coding ENSG00000141376 HGNC:14347 06313 607470 VALIDATED 1345403 BCAT1 branched chain amino-acid transaminase 1, cytosolic This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010] 12 12 12 p12.1 30109823 30249287 - 24962958 25102393 - 24810024 24949459 - 67954;631308;1580863;6480464;6907045;8554872 10686349;9165094 10471790;12477932;14702039;15231748;16141215;17007058;17846126;18074675;18419134;19119849;19260141;19913121;20062060;20339536;20379614;20628086;20639392;20734064;20877624;21139048;21987572;22107788;22863883;23000965;23043456;23400010;23455924;23758864;23793099;24250222;24463277;24816145;6933702;7566098;8692959;8889548;9657861 586 F5H2F2;P54687 AA376058;ABBA01068010;ABBA01068011;ABBA01068012;ABBA01068013;AC023796;AC026310;AC092867;AF277179;AK024923;AK025615;AK056255;AK128527;AK294879;AK299088;AL390172;AMYH02026214;AMYH02026215;BC026006;BC033864;BM458559;BU618839;BU730066;BX474651;BX647122;CH471094;CR749308;DC385021;KF455624;NG_008170;NM_001178091;NM_001178092;NM_001178093;NM_001178094;NM_005504;U21551;XM_005253460 AAB08528;BAB71129;BAG54689;BAH11911;BAH12946;CAH18163;EAW96497;EAW96498;EAW96499;NP_001171562;NP_001171563;NP_001171564;NP_001171565;NP_005495;P54687;XP_005253517 Hs.438993 1335547;1649672;1653965;1699414;1722893;2107885;2138464;2140437 BCAT1_8225;D12S1435;D12S1617;D12S1956;G60541;RH103298;RH44650;SHGC-57548 BCATC;BCT1;DKFZp686E12175;ECA39;MECA39;PNAS-121;PNAS121;PP18 OTTHUMP00000240002;OTTHUMP00000240003;OTTHUMP00000240004;OTTHUMP00000240005;OTTHUMP00000240006;branched chain aminotransferase 1, cytosolic;branched-chain-amino-acid aminotransferase, cytosolic;placental protein 18 APPROVED protein-coding ENSG00000060982 HGNC:976 00216 113520 REVIEWED 1316516 BCCIP BRCA2 and CDKN1A interacting protein This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q26.1 121287539 121317699 + 127512102 127542264 + 125823535 125853695 + 1580863;6480464 10878006;11313963;11748848;11754111;11836363;12477932;12527204;14702039;14726710;15164054;15231748;15489334;15539944;1571364;15713648;16169070;16189514;16247447;16341674;17081983;17135243;17353931;17452982;17620012;17627904;17947333;18299662;18413737;18440304;18773424;18950845;19578363;19653894;19713748;19861517;21139048;21890473;21900206;21906983;21963094;21988832;22863883;22939629;22990118;23000965;23383273;23911796;24250222;24778252;25027693;8889548 56647 B4DUS0;B4E318;Q9P287 AA806484;AB040450;AB040451;ABBA01034170;ABBA01034171;AK055691;AK092054;AK300767;AK304529;AL360176;AL834458;AMYH02023997;AY064247;AY064248;AY064249;AY092061;BC009771;BM741863;BM905542;BM974496;BQ008485;CH471066;NG_029095;NM_016567;NM_078468;NM_078469 AAH09771;AAL55436;AAL55438;AAL55439;AAL55440;BAA92927;BAA92928;BAG51557;BAG62432;BAG65330;CAD39118;EAW49218;EAW49219;EAW49220;NP_057651;NP_510868;NP_510869;Q9P287 Hs.370292;Hs.715543 1656255;1683211;1736142;1789090;2145466;2161201;2172859;2184295;2186394;5491958;7185551 A004G05;D10S1398E;DHX32;G65680;RH44594;RH98320;SGC34496;SHGC-33832;STS-AA036771;WI-11581 TOK-1;TOK-1alpha;TOK-1beta;TOK1 BCCIPalpha;BCCIPbeta;BRCA2 and CDKN1A-interacting protein;BRCA2 and Cip1/p21 interacting protein;OTTHUMP00000020714;OTTHUMP00000020715;OTTHUMP00000020716;cdk inhibitor p21 binding protein;p21- and CDK-associated protein 1 APPROVED protein-coding ENSG00000107949 HGNC:978 16542 611883 REVIEWED 69002 BCAT2 branched chain amino-acid transaminase 2, mitochondrial This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 19 19 19 q13 46166129 46182134 - 49298319 49314320 - 48795062 48811063 - 67954;1300291;1582175;1580863;1300048;6480464;6907045;8554872 11733007;14755340;9165094 11170829;11264579;12119021;12269802;12477932;12686109;14702039;15182179;15489334;16141215;16344560;17050531;19119849;20877624;21832049;21890473;21906983;21963094;21988832;22107788;23043456;24250222;3896163;6933702;8125298;8702755;8889548;9478945;9657861;9665099 587 B3KSI3;M0QXF9;M0QZ10;M0QZP4;M0R2K7;O15382 ABBA01032966;AC026803;AF268047;AF268048;AK023909;AK093627;AK223522;AK309428;AK310101;AK310243;AK314548;AMYH02036311;BC001900;BC004243;BE139200;BM802402;BU178552;CA310873;CB049110;CH471177;DA129578;DC395685;HC897076;NG_013003;NM_001164773;NM_001190;NM_001284325;U62739;U68418 AAB53087;AAB67672;AAH01900;AAH04243;AAK38368;AAK38369;ABM83276;ABM86480;BAD97242;BAG37134;BAG52745;CBN62949;EAW52403;NP_001158245;NP_001181;NP_001271254;O15382 Hs.512670 2107887 BCAT2_8226 BCAM;BCATM;BCT2;PP18 branched chain aminotransferase 2, mitochondrial;branched-chain-amino-acid aminotransferase, mitochondrial;placental protein 18 APPROVED protein-coding ENSG00000105552 HGNC:977 00217 113530 REVIEWED 6766505 BCDIN3D-AS1 BCDIN3D antisense RNA 1 12 12 12 q13.13 49018345 49030956 + 50222326 50234937 + 49828543 49841154 + 14702039;16344560;16712791;23563607 100286844 ABBA01031537;ABBA01031538;AC131157;AI193197;AK055142;AMYH02026450;BC014925;CB153643;DA122615;HG504740;HG504742;NR_027499;NR_027500;NR_027501 Hs.656019 1683128;2117456 RH79782;SHGC-17415 RP11-70F11.6 APPROVED ncrna ENSG00000258057 HGNC:44113 VALIDATED 1601723 BCDIN3D BCDIN3 domain containing ENCODES a protein that exhibits O-methyltransferase activity; RNA methyltransferase activity; INVOLVED IN miRNA metabolic process; negative regulation of pre-miRNA processing; RNA methylation; FOUND IN cytoplasm; nucleus; INTERACTS WITH 2-methylcholine; arsane; arsenic atom 12 12 12 q13.12 49025845 49032931 - 50229826 50236912 - 49836043 49843129 - 6480464 12477932;17207965;19079260;19322201;19557197;20215397;20712903;20724581;20816195;21145461;21890473;23063121 144233 Q7Z5W3 ABBA01031538;AC131157;AK292194;AMYH02026450;BC040957;BC053560;BU622810;CD690663;CH471111;NM_181708 AAH53560;ADQ32577;BAF84883;EAW58101;NP_859059;Q7Z5W3 Hs.142736 1683128;2117456;5014051;5021872;5022200;5037552 D8S2278;D8S2279;L18426;RH79782;SHGC-17415;sY3084 BCDIN3 domain-containing protein;OTTHUMP00000242155;pre-miRNA 5'-monophosphate methyltransferase;probable methyltransferase BCDIN3D protein-coding ENSG00000186666 HGNC:27050 14065 VALIDATED 732174 BCHE butyrylcholinesterase Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008] 3 3 3 q26.1-q26.2 163889280 163954027 - 165490692 165555260 - 165772904 165837472 - 1599458;1331525;734636;1601328;1599454;1580863;1601317;1601321;1601322;1601335;2306780;2306781;2306778;2306779;2306782;2306783;2306776;2306777;5687326;5688055;5687325;5687328;5687327;5687690;5688056;5688128;5688132;5688134;5688133;5688130;6480464;5688127;7240710;8699517;8554872 11478742;11793025;12379509;12383920;12387587;15118671;15219807;15907830;16187484;16442234;16442260;16973370;17026497;17275003;17657467;17852836;17917325;20122907;20138875;21303225;21771623;21921108;22012848;22123563;22157615;2915989;2953866;7634486;8149699;9694584 10529218;11125748;11436125;11569538;11725818;11738493;11749053;11848688;11849755;11856322;11856351;12003252;12009429;12044901;12074828;12130740;12387584;12417112;12477932;12668920;12687586;12724618;12811800;12869558;12881446;12901493;14622273;14686935;14718574;14735258;14760718;15060281;15111428;15258737;15386241;15449725;15465921;15489334;15519745;15690550;15696543;15731585;15781196;15802910;15834019;16020944;16105444;16213467;16278840;16288482;16289064;16298355;16335952;16344560;16429499;16504521;16731619;16788378;16801396;16824336;16909200;16962996;17116317;17192624;17318303;17335779;17350607;17410321;17503475;17660298;17690023;1769657;1769658;17698511;17700357;17701416;17768338;17923322;17996334;18075469;18076380;18165570;18237553;18290843;18300943;18322399;18334913;18422653;18457821;18550040;18555211;18640242;18778798;18780301;19006190;19010318;19019080;19056482;19156168;19217865;19383604;19452557;19474452;19481150;19578796;19617863;19685167;19713000;19913121;19956635;20056567;20058037;20143968;20193849;20308990;20356562;20379614;20399202;20445134;20529763;20538374;20628086;20644562;20677742;20807286;20879632;20883446;20886866;21029050;21402063;21454498;21473860;21493754;21530486;21547979;21576115;21862451;21943158;22040426;22294139;22331678;22402324;22560633;22750491;22778864;22901043;22917637;22922115;22935510;23000450;23022600;23044488;23063927;23092211;23123771;2318303;2322535;2339692;23419831;23466605;23508960;23650977;23689009;23782236;24001779;24041656;24125115;24312228;24446003;24870023;2758686;3035536;3067729;3115973;3477799;3542989;8063698;8622553;8680411;8930175;9543549;9673783 590 D3DNN4;F8WEX7;F8WF14;H0Y885;H7C4Y0;P06276;Q96HL2 ABBA01058744;ABBA01058745;AC009811;AK292063;AMYH02008072;AMYH02008073;BC008396;BC018141;BF056152;CH471052;DA426203;M16474;M16541;M32391;NG_009031;NM_000055;XM_005247685 AAA52015;AAA98113;AAA99296;AAH08396;AAH18141;ABM81967;ABM85146;BAF84752;EAW78591;EAW78592;EAW78593;EAW78594;NP_000046;P06276;XP_005247742 Hs.420483 1740979;1741075;1741077;1743635;1743637;1744891;1744893;1744895;1744897;1745731;1745733;1746115;1751331;1858313;2106443;2113732;2175496;2176253 BCHE;BCHE_4440;D3S3886;G64459;GDB:177095;GDB:177651;GDB:177652;GDB:363550;GDB:363553;GDB:580568;GDB:580574;GDB:580578;GDB:580581;GDB:632859;GDB:632866;SHGC-105146;STS-M16541;WI-18944 CHE1;CHE2;E1 OTTHUMP00000212636;acylcholine acylhydrolase;butyrylcholine esterase;choline esterase II;cholinesterase;cholinesterase (serum) 2;cholinesterase 1;pseudocholinesterase APPROVED protein-coding ENSG00000114200 HGNC:983 01519 177500 REVIEWED 1343415 BCGF1 B-cell growth factor 1, 12kDa 1580863 7698329 588 P20931 HGNC:981 1351460 BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008] 6 6 6 q14.1 81237906 81477561 + 80816344 81055987 + 80106627 80346270 + 1599466;1599467;1580863;6480464;6907045;7240710;8554872;8699517 2022752;9460082 10745006;11509994;11839747;12477932;12902323;15166214;15489334;15576032;16472748;17329260;17524396;17922217;18378174;1860867;1889817;19480318;20301313;20301495;20379614;20877624;21145461;22593002;23313820;2335211;23400010;23563607;2365818;24250222;7918575;8161368;8651316 594 B7ZB80;P21953 ABBA01040421;AK289977;AK304353;AK310838;AK316545;AL049696;AL391595;AMYH02013981;AMYH02013982;BC034481;BC040139;BM553932;BT020063;CH471051;D90391;DB548202;DC372349;KF458208;M55575;NG_009775;NM_000056;NM_183050;U50708;U51015;U51016;X52446;XM_005248756;XM_006715542 AAA51812;AAB09779;AAB09780;AAB16763;AAH34481;AAH40139;AAV38866;BAA14389;BAF82666;BAG65195;BAH14916;CAA36685;EAW48696;EAW48697;EAW48698;NP_000047;NP_898871;P21953;XP_005248813;XP_006715605 Hs.654441 1664805;1671199;1698358;1754149;1777514;2115069;2118994;2127678;5015404;5020740;5022651;5024413;5037552;5092670;5122325;7190931;7190935 A005P24;D11S2921;D6S1762;D6S1856;D6S1866;D8S2279;G32255;L17705;L17809;L17877;RH102720;RH15773;RH46797;SHGC-132178;SHGC-36275 E1B;FLJ17880;dJ279A18.1 2-oxoisovalerate dehydrogenase beta subunit;2-oxoisovalerate dehydrogenase subunit beta, mitochondrial;BCKDE1B;BCKDH E1-beta;E1b-beta subunit of the branched-chain complex;OTTHUMP00000018048;OTTHUMP00000018049;branched chain alpha-ketoacid dehydrogenase E1-beta subunit;branched-chain alpha-keto acid dehydrogenase E1 component beta chain APPROVED protein-coding ENSG00000083123 HGNC:987 02011 248600;248611 REVIEWED 734102 BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 19 19 19 q13.1-q13.2 38703549 38730745 + 41903694 41930910 + 41397789 41425005 + 1599467;734637;737779;1580863;6480464;6907045;7240710;8554872;8699517 1943689;8037208;9460082 10745006;11839747;12477932;12812918;12902323;1356170;1420356;15166214;15322287;15489334;15576032;16757574;1682165;17081983;17353931;17922217;18378174;1861457;1867199;1885764;1889817;19085071;19456321;19480318;19715473;20136525;20301313;20301495;20431954;2060625;20877624;21145461;21844576;2241958;22593002;22956686;23729548;24250222;24816145;2703538;2805821;2914958;3224821;3379058;7883996;7918575;8161368;8889548;9582350 593 F5GXU9;F5H5P2;H0YH20;H0YH31;P12694;Q59EI3 AB209828;ABBA01040807;ABBA01040808;AC011462;AK298188;AK313300;AL833143;AMYH02036134;BC007878;BC008933;BC023983;BE223026;BG742673;BI910860;BM702667;BQ018849;CH471126;J04474;M22221;NG_013004;NM_000709;NM_001164783;S38309;S38324;Z14093 AAA35590;AAB19267;AAB19268;AAB59549;AAH07878;AAH08933;AAH23983;BAD93065;BAG36106;BAG60459;CAA78475;CAH56215;EAW57039;EAW57040;NP_000700;NP_001158255;P12694 Hs.433307 1743925;1743927;1743929;1854126;2107889;2116901;2136320;2142506;2142508;2156652;2172606;5017657;5092382;5120840;5491671 A005U20;A007H11;BCKDHA;BCKDHA_8227;G20507;G54154;GDB:375700;GDB:375706;GDB:375709;GDB:375712;IB1022;MARC_7273-7274:996687712:3;RH35849;SHGC-12313;SHGC-24398 BCKDE1A;FLJ45695;MSU;MSUD1;OVD1A 2-oxoisovalerate dehydrogenase (lipoamide);2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial;BCKDH E1-alpha;OTTHUMP00000238014;OTTHUMP00000238015;OTTHUMP00000238024;OTTHUMP00000238025;branched-chain alpha-keto acid dehydrogenase E1 component alpha chain APPROVED protein-coding ENSG00000248098 HGNC:986 02009 248600;608348 REVIEWED 1347575 BCL10 B-cell CLL/lymphoma 10 This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. [provided by RefSeq, Jul 2008] 1 1 1 p22 83975888 83987016 - 85731459 85742604 - 85265776 85276921 - 1580863;6480464;6484113;6907045;7240710;8554872 10187770;10187771;10187815;10319863;10364242;10380921;1040062;10400625;10753917;11021819;11053425;11090634;11113112;11163238;11259443;11262391;11278692;11356195;11387339;11466612;11472070;11830492;11836626;11960389;12017308;12154360;12477932;12761501;14523480;14638696;14674990;14695475;15082780;15122200;15125833;15184390;15207693;15213237;15489334;15637807;15878976;16123224;16127295;16186825;16229939;16280327;16341151;16356855;16395405;16647297;16712791;16775419;16785131;16809782;16831874;16920630;17047224;17052756;17095757;17101977;17179215;17189706;17199743;17213322;17287217;17353931;17363905;17371994;17468049;17502353;17540779;17893875;17948050;18223652;18231929;18252714;18287044;18307945;18346354;18349075;18625728;18806265;18949449;19035248;19112107;19279678;19309400;19322201;19336552;19444310;19573080;19593445;19690445;19709433;19773279;19815501;19897484;20164171;20237496;20439115;20466000;20551178;20695076;21048031;21406399;21513986;21674474;21700900;21896478;21988832;22474286;22547678;22564715;22579587;22708078;22812606;22818167;23153494;23530562;23661444;23690623;23784377;24074955;24130731;24250222;24732096;8813110;9989495 8915 O95999 ABBA01045640;AF057700;AF082283;AF097732;AF100338;AF105066;AF127386;AF134395;AJ006288;AK291346;AL590113;AMYH02001382;BC053617;BI831624;BX647306;CA420027;CA443148;CB126730;CH471097;EF189176;NG_012216;NM_003921;XM_005271311 AAC99767;AAD15800;AAD16428;AAD24918;AAD32597;AAD39147;AAF06894;AAH53617;ABN09569;BAF84035;CAA06955;EAW73208;NP_003912;O95999;XP_005271368 Hs.193516 1677436;1795418 BCL10_716;RH98853 CLAP;bcl-10;c-E10;hCLAP;mE10 B-cell lymphoma/leukemia 10;CARD containing molecule enhancing NF-kB;CARD-containing apoptotic signaling protein;CARD-containing molecule enhancing NF-kappa-B;CARD-containing proapoptotic protein;CED-3/ICH-1 prodomain homologous E10-like regulator;OTTHUMP00000011647;OTTHUMP00000036080;cCARMEN;carmen;caspase-recruiting domain-containing protein;cellular homolog of vCARMEN;cellular-E10;ciper;mammalian CARD-containing adapter molecule E10 APPROVED protein-coding ENSG00000142867 HGNC:989 04625 114500;137245;156240;603517;613024 REVIEWED 69214 BCKDK branched chain ketoacid dehydrogenase kinase The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 16 16 16 p11.2 29173915 29178365 - 31119615 31124112 + 31108294 31112791 + 1580863;6480464;8699517;8554872;7240710 11839747;12023963;12477932;1377677;15302860;15489334;15604093;17000644;17353931;1889817;18985028;19913121;20628086;20811636;20877624;21832049;21890473;21988832;2403034;24654937;24816145;8889548 10295 H3BNP3;H3BQP2;H3BS02;H3BTL2;H3BUV3;O14874 ABBA01042078;AC135050;AF026548;AK130145;AK294691;AMYH02031843;BC007363;BC009872;BM679327;BX427330;CH471192;CR542093;NG_033011;NM_001122957;NM_001271926;NM_005881 AAB82714;AAH07363;AAH09872;ABM84613;ABM87863;BAG57850;CAG46890;EAW52160;EAW52161;EAW52162;EAW52163;EAW52164;NP_001116429;NP_001258855;NP_005872;O14874 Hs.513520 1679319;1685063;2109081 BCKDK_9086;RH48904;SHGC-61092 BCKDKD;BDK BCKD-kinase;BCKDHKIN;OTTHUMP00000044996;OTTHUMP00000044997;OTTHUMP00000044998;OTTHUMP00000044999;[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial;branched chain alpha-ketoacid dehydrogenase kinase;branched-chain alpha-ketoacid dehydrogenase kinase protein-coding ENSG00000103507 HGNC:16902 12523 614901;614923 REVIEWED 733985 BCL2A1 BCL2-related protein A1 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q24.3 57189526 57199937 - 80253232 80263643 - 79960890 79971301 - 734640;1580863;2313975;6480464 11733571;17322918 10049353;10198631;10381646;10430908;10454539;10545479;10753914;10849436;11329013;11483855;11696595;11929871;12477932;12665576;12692420;12771180;14747545;14966372;14981542;15489334;15499630;15501771;15592513;15617521;15694340;15696550;16164629;16551634;16572199;16697956;16873269;17121585;17666431;17724464;17726463;17907802;17942758;18093280;18206119;18414982;18512730;18812174;18835031;19336552;19573080;19759007;19773279;19913121;20185581;20353833;20628086;20800603;20855536;21167304;21491422;21832049;21843371;22231730;22292048;22510878;22553204;22615379;22720045;22745672;22865454;23118966;23152563;23447565;23480177;23841872;7478596;8345191;8589678;8605321;8910286;8952545;9050999;9321477;9356461;9670936;9731710 597 Q16548 ABBA01060616;AC015871;AL110097;AMYH02030878;AY234180;BC016281;BG198875;BG204033;BG216703;BT007103;CD640106;CH471136;CR541937;CR541962;HI574046;NG_029487;NM_001114735;NM_004049;U27467;U29680;Y09397 AAC50288;AAC50438;AAH16281;AAO89009;AAP35767;ABM82035;ABM85216;CAA70566;CAG46735;CAG46760;CBX47512;EAW99129;NP_001108207;NP_004040;Q16548 Hs.227817 1662757;1739593;1768623;1769363;1795076;1853733 D10S1618E;PMC97140P1;RH68628;SHGC-35552;SHGC-64943;STS-U27467 ACC-1;ACC-2;BCL2L5;BFL1;GRS;HBPA1 OTTHUMP00000185566;OTTHUMP00000185567;bcl-2-like protein 5;bcl-2-related protein A1;bcl2-L-5;hematopoietic BCL2-related protein A1;hemopoietic-specific early response protein;protein BFL-1 APPROVED protein-coding ENSG00000140379 HGNC:991 03034 601056 REVIEWED 733100 BCL2 B-cell CLL/lymphoma 2 This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. [provided by RefSeq, Jul 2008] 18 18 18 q21.3 57509356 57706116 - 60790579 60987011 - 63123346 63319778 - 734639;1599473;1599477;1599484;1599491;1300048;1580863;1579984;1579980;1579966;2293020;2293059;2293016;2293015;2314140;2293022;2293026;2290557;2293017;2293013;2293014;2289659;2293072;2293078;2313975;2313998;2311240;2298889;2298896;2292908;2292909;2293019;2293073;2292910;2291908;2293018;2293027;2298890;2298897;1643477;2293021;2293065;1643479;6480464;6484113;6907045;7240710;8554863;8547871;8699517 10704489;12167434;12234300;12628841;12810203;15632274;15649569;16289365;16309543;16671111;16826579;16962107;17322918;17404573;17482919;17639989;17693084;17693937;17850375;17908970;18006758;18047955;18076646;18083315;18084610;18093155;18094410;18202171;18217456;18221257;18283311;18317887;18342927;18386458;18427947;18430249;18441466;18561741;18931364;18959742;18991018;3287162 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596 P10415 ABBA01056209;ABBA01056210;ABBA01056211;ABBA01056212;ABBA01056213;ABBA01056214;AC021803;AC022726;AF401211;AI401297;AMYH02034881;AMYH02034882;AMYH02034883;AY220759;BC027258;CH471096;EU287875;FB571387;FB571389;JA362596;JC231886;JC231888;M13994;M13995;M14745;NG_009361;NM_000633;NM_000657;S72602;X06487;XM_006722523;XR_430082 AAA35591;AAA51813;AAA51814;AAD14111;AAH27258;AAL02169;AAO26045;ABM82396;ABM85580;ABX60202;CAA29778;CAR95111;CAR95112;CCA94580;CDM22285;CDM22286;EAW63136;EAW63137;EAW63138;EAW63139;NP_000624;NP_000648;P10415;XP_006722586 Hs.150749 1654828;1656815;1659114;1684750;1704630;1724291;1741705;1742177;1742181;1742183;1742883;1742937;1768581;1775139;1791780;1792102;1792908;1795424;1851618;1853096;2146490 BCL2_50;D18S1264;D18S379;G10613;GDB:182296;GDB:193042;GDB:193086;GDB:193087;GDB:214797;GDB:216623;PMC125347P1;PMC137064P1;PMC16825P1;RH119070;RH47111;RH68699;RH78390;RH91234;SHGC-37391;SHGC-77927;STS-AA007401 Bcl-2;PPP1R50 OTTHUMP00000163680;apoptosis regulator Bcl-2;b-cell leukemia/lymphoma 2;protein phosphatase 1, regulatory subunit 50 APPROVED protein-coding HGNC:990 01045 151430 REVIEWED 1606211 BCL2L12 BCL2-like 12 (proline rich) This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 19 19 19 q13.3 47037733 47046507 + 50168399 50177173 + 49665142 49673916 + 6480464;8554872 11283018;11401436;12477932;12783122;14759258;15489334;15493871;15576332;16344560;16647810;16895478;17081983;17132110;17210792;17384250;17404015;18669646;18769159;18844453;18928586;18930135;18976975;19015929;19376117;19440006;19544381;19617565;19723066;19763795;19903463;19913121;19946888;20628086;20837658;20855536;21152697;21200141;21737576;21906983;21963094;21987572;21988832;22238053;22262180;22431925;22664385;22728012;22747515;23292833;23708917;23790536;23901115;24078567;24250222;24339738 83596 I6LJZ5;I6LJZ6;I6LJZ7;I6LJZ8;I6LJZ9;M0QZM6;M0R1K0;M0R1Z8;Q9HB09 ABBA01032913;AC011495;AF289220;AMYH02036325;BC007724;BC104004;BC104005;BC104006;BI159786;CH471177;FJ868798;FJ868799;FJ868800;FJ868801;FJ868802;FJ868803;FJ911906;FJ911907;FJ911908;HM347053;NM_001040668;NM_001282516;NM_001282517;NM_001282519;NM_001282520;NM_001282521;NM_138639;NR_104200;NR_104201;NR_104202;NR_104203;NR_104204;NR_104205 AAG29495;AAG29496;AAH07724;AAI04005;AAI04006;AAI04007;ACZ28444;ACZ28445;ACZ28448;ACZ28450;ACZ28451;ACZ28452;ADM35972;EAW52514;EAW52515;EAW52516;EAW52517;NP_001035758;NP_001269445;NP_001269446;NP_001269448;NP_001269449;NP_001269450;NP_619580;Q9HB09 Hs.289052 2115343;2169814;2176202 RH18543;SGC33962;STS-H72005 MGC120313;MGC120314;MGC120315 Bcl-2 related proline-rich protein;bcl-2-like protein 12;bcl-2-related proline-rich protein;bcl2-L-12 APPROVED protein-coding ENSG00000126453 HGNC:13787 16543 610837 REVIEWED 9587211 BCL2L12P1 BCL2-like 12 (proline rich) pseudogene 1 3 3 3 q22.1 129671326 129672023 + 131245309 131246006 + 131526465 131527162 + 100289095 ABBA01059194;AC107027;AMYH02007674;NG_022270 pseudo HGNC:51327 INFERRED 1353095 BCL2L10 BCL2-like 10 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008] 15 15 15 q21 29296261 29299399 - 52401490 52404972 - 52109293 52112775 - 1580863;2313975;6480464 17322918 10486928;11278245;11557035;11593390;11689480;12477932;12720100;17532299;18178565;18483366;18835031;19255499;19336552;19551325;19573080;19773279;19913121;20428828;20628086;20855536;20919753;21077739;21166696;21171085;21760590;21890473;22233804;22498477;22577154;23235460;23293224;23563182;25015289;9488720;9829980;9878060 10017 H0YMD5;Q9HD36 ABBA01039067;AC023906;AF285092;AF326964;AJ458330;AMYH02030443;BC093826;BC093828;BC104442;BC104443;CH471082;NM_020396;XM_005254103 AAG00503;AAH93826;AAH93828;AAI04443;AAI04444;AAK48715;CAD30221;EAW77435;NP_065129;Q9HD36;XP_005254160 Hs.283672 2177956;2217066 BCL2L10_3137;STS-R53538 BCL-B;Boo;Diva;MGC129810;MGC129811 OTTHUMP00000162719;anti-apoptotic protein NrH;apoptosis regulator Bcl-B;bcl-2-like protein 10;bcl2-L-10 APPROVED protein-coding ENSG00000137875 HGNC:993 06071 606910 REVIEWED 734299 BCL2L11 BCL2-like 11 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013] 2 2 2 q13 105529086 105576607 + 111878491 111926022 + 111120914 111168445 + 704412;734641;1580863;704413;2314029;6480464 10576740;12388545;19641503;9731710 10198631;10381623;10837489;11050388;11210187;11301022;11435715;11546872;11583631;11734221;11859372;11997495;12019181;12095614;12118373;12198137;12376548;12477932;12486001;12591950;12787561;12818176;12844146;14527951;14555991;14561217;14596824;14676826;14681225;14732682;14764673;14769789;14970329;14996839;15014070;15030401;15096481;15146197;15147734;15193260;15378010;15459900;15486195;15489334;15509554;15653751;15661735;15688014;15694340;15711598;15721256;15728578;15731037;15731089;15767553;15824087;15843898;15899862;15989957;16022280;16051596;16091744;16148027;16183168;16213503;16260615;16282323;16373335;16476732;16478725;16697956;16773715;16810067;16888645;16951744;17051334;17062728;17067554;17074758;17105963;17151701;17158029;17188240;17203211;17207965;17218274;17251431;17276340;17289999;17486061;17499214;17525735;17531220;17538248;17637819;17653091;17686764;17692808;17698840;17716672;17717606;17927446;18006817;18063582;18064628;18089817;18165867;18182577;18195012;18246127;18251703;18345036;18348176;18354037;18391004;18398508;18413764;18420585;18508762;18549468;18651223;18668139;18677096;18715233;18715501;18758461;18806830;18812174;18925930;18949058;18981303;19050264;19052714;19064725;19100522;19101511;19141860;19148187;19150432;19285955;19300516;19305426;19308286;19330811;19332026;19336552;19403302;19407828;19494111;19541822;19573080;19574221;19587239;19622586;19622774;19641506;19737817;19773279;19773546;19805519;19850739;19881544;19893569;19914305;20010785;20066663;20074640;20082325;20086250;20160166;20206402;20231287;20237869;20332261;20348947;20404322;20431602;20697841;20700448;20705940;20819778;20821734;20841506;20855536;20861305;20877573;20878914;20885957;20959405;21041309;21130142;21148306;21148799;21151127;21247487;21333317;21339291;21367852;21375523;21378313;21415216;21478148;21481848;21507240;21533175;21555518;21613222;21625639;21655183;21659544;21671007;21673341;21729544;21732363;21808067;21832049;21899728;21924351;21937453;21958719;21984578;21988832;22071694;22076535;22081075;22093624;22131152;22145099;22160382;22245094;22270368;22349704;22388891;22391963;22426421;22430213;22516966;22572381;22609401;22622039;22628193;22645134;22742832;22762551;22788963;22802411;22819074;22895567;22905229;23012423;23047821;23138847;23152053;23152504;23235460;23243017;23270470;23295054;23301543;23358890;23382048;23394612;23402819;23441183;23500081;23532334;23569333;23633923;23648111;23681223;23737756;23770605;23824909;23851982;23872733;23874387;23908358;23912711;24074954;24223824;24227856;24239173;24263101;24292274;24376685;24425048;24502636;24536031;24596063;24650799;24825889;24850748;24871945;8918887;8929531;9430630;9463381 10018 C9J417;E9PAM9;H7BZE5;O43521 AA854054;AA890664;AB071195;AB071196;AB071197;AB071198;AB071199;AB071200;ABBA01001561;AC096670;AF032457;AF032458;AF086141;AF455755;AI268146;AK027160;AK290377;AK291269;AMYH02004570;AMYH02004571;AW629314;AY305714;AY305715;AY305716;AY352518;AY423441;AY423442;AY423443;AY428962;BC033694;CH471237;CN411912;DQ849200;DQ849201;DQ849202;HI179172;JC747654;NG_029006;NM_001204106;NM_001204107;NM_001204108;NM_001204109;NM_001204110;NM_001204111;NM_001204112;NM_001204113;NM_006538;NM_138621;NM_138622;NM_138623;NM_138624;NM_138625;NM_138626;NM_138627;NM_207002;NM_207003;XM_005263550;XM_005263551;XM_005263552;XM_005263553;XM_005263554;XM_005263555;XM_005263556;XM_005263557;XM_005263559;XM_005263560;XM_005263561;XR_244801;XR_244802;XR_244803;XR_244804 AAC39593;AAC39594;AAH33694;AAL57868;AAQ62569;AAQ82546;AAQ82547;AAQ99148;AAQ99149;AAQ99150;AAR06908;AAT34900;AAY14797;ABI13589;ABI13590;ABI13591;ADQ31938;BAB78589;BAB78590;BAB78591;BAB78592;BAB78593;BAB78594;BAF83066;BAF83958;CBX53894;CEF39446;EAW50364;EAW50365;EAW50366;EAW50367;EAW50369;EAW50370;EAW50371;EAW50372;EAW50373;EAW50374;NP_001191035;NP_001191036;NP_001191037;NP_001191038;NP_001191039;NP_001191040;NP_001191041;NP_001191042;NP_006529;NP_619527;NP_619528;NP_619529;NP_619530;NP_619531;NP_619532;NP_619533;NP_996885;NP_996886;O43521;XP_005263607;XP_005263608;XP_005263609;XP_005263610;XP_005263611;XP_005263612;XP_005263613;XP_005263614;XP_005263616;XP_005263617;XP_005263618 Hs.469658;Hs.737004 1340014;1657550;1678523;1686146 D2S1892;RH91369;RH99076;WI-11737 BAM;BIM;BIM-alpha6;BIM-beta6;BIM-beta7;BOD;BimL;BimS;bcl2-L-11 BimEL;OTTHUMP00000161927;OTTHUMP00000195502;OTTHUMP00000197013;OTTHUMP00000204243;OTTHUMP00000204246;OTTHUMP00000204247;OTTHUMP00000204248;OTTHUMP00000204249;OTTHUMP00000204250;OTTHUMP00000204251;OTTHUMP00000204252;OTTHUMP00000204253;bcl-2 interacting mediator of cell death;bcl-2 interacting protein Bim;bcl-2-like protein 11;bcl-2-related ovarian death agonist;bcl2-interacting mediator of cell death APPROVED protein-coding ENSG00000153094 HGNC:994 04828 603827 REVIEWED 1322422 BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013] 14 14 14 q32.2 79691368 79793512 - 99635624 99738514 - 99169287 99271713 - 1580863;6480464;8554872 10744719;11719382;12196208;12565905;12692243;12930829;15104287;15325104;15668700;15849318;16091750;16809611;16950772;17245431;17308084;17369851;18595722;18768194;19366371;19399189;19454010;19581932;20824091;21060114;21080944;21878675;22067449;22068335;22077140;22245141;22450536;22505724;22700985;22969067;23022380;23040356;23168072;23383087;23527175;23682716;23752268;23803414;23852730;24441149 64919 D3YTK1;L8B567;L8B7P7;L8B862;L8B8F6;Q9C0K0 AB041218;AB041222;AB043584;AB057668;AB057669;AB057670;ABBA01048566;ABBA01048567;AF086271;AJ404614;AL109767;AL162151;AL359681;AMYH02029831;CH471061;FB736423;NG_027894;NM_001282237;NM_001282238;NM_022898;NM_138576 AAI56140;BAB32731;BAM78282;BAM78283;BAM78284;BAM78285;BAM78533;CAC17726;CAX20397;EAW81662;EAW81663;NP_001269166;NP_001269167;NP_075049;NP_612808;Q9C0K0 Hs.709690 1659376;1698748;1751467;1763487;1764387;1799512;1799960;1800000;1800126;1800776;1801104;1801556;1801612;1801678;1802338;1802582;1802648;1802762;1802828;1802884;1802886;1803170;1803228;1803230;1803350;1803380;1803382;1803434;1803682;1803858;1804170;1804172;1804372;1804658;1804742;1805150;1805562;1805638;1807402;1808074;1808482;1809526;1809812;1809938;1809986;1810386;1810388;1810390;1810588;1810658;1810734;1810818;1810892;1810894;1811494;1811670;1812142;1812416;1812694;1812696;1813272;1813274;1813276;1813636;1813704;1814026;1814398;1814970;1815588;1816168;1817348;1817350;1818128;1818776;1819044;1819154;1819296;1819428;1819690;1819766;1820182;1820450;1821108;1821242;1821244;1823222;1823224;1823298;1823382;1823558;1823730;1823852;1824536;1824852;1824924;1825096;1825406;1826034;1826472;1826474;1826740;1826834;1827360;1827442;1827628;1827850;1828412;1828574;1830724;1830822;1831846;1833566;1834242;1835014;1835296;1835332;1835512;1837060;1837380;1837890;1837982;1838560;1838662;1838792;1839130;1839886;1840130;1840760;1840762;1841126;1841730;1842166;1843186;1844124;1844126;1845248;1953650;1953652;1953654;1953656;1953658;1953660;1953662;1953664;1953666;1953668;1953670;1953672;1953674;1953676;1953678;1953680;1953682;1953684;1953686;1953688;1953690;1953692;1953694;1953696;1953698;1953700;1953702;1953704;1953706;1953708;1953710;1953712;1953714;1953716;1953718;1953720;1953722;1953724;1953726;1953728;1953730;1953732;1953734;1953736;1953738;1953740;1953742;1953744;1953746;1953748;1953750;1953752;1953754;1953756;1953758;1953760;1953762;1953764;1953766;1953768;1953770;1953772;1953774;1953776;1953778;1953780;1953782;1953784;1953786;1953788;1953790;1953792;1953794;1953796;1953798;1953800;1953802;1953804;1953806;1953808;1953810;1953812;1953814;1953816;1953818;1953820;1953822;1953824;1953826;1953828;1953830;1953832;1953834;1953836;1953838;1953840;1953842;1953844;1953846;1953848;1953850;1953852;1953854;1953856;1953858;1953860;1953862;1953864;1953866;1953868;1953870;1953872;1953874;1953876;1953878;1953880;1953882;1953884;1953886;1953888;1953890;1953892;1953894;1953896;1953898;1953900;1953902;1953904;1953906;1953908;1953910;1953912;1953914;1953916;1953918;1953920;1953922;1953924;1953926;1953928;1953930;1953932;1953934;1953936;1953938;1953940;1953942;1953944;1953946;1953948;1953950;1953952;1953954;1953956;1953958;1953960;1953962;1953964;1953966;1953968;1953970;1953972;1953974;1953976;1953978;1953980;1953982;1953984;1953986;1953988;1953990;1953992;1953994;1953996;1953998;1954000;1954002;1954004;1954006;1954008;1954010;1954012;1954014;1954016;1954018;1954020;1954022;1954024;1954026;1954028;1954030;1954032;1954034;1954036;1954038;1954040;1954042;1954044;1954046;1954048;1954050;1954052;1954054;1954056;1954058;1954060;1954062;1954064;1954066;1954068;1954070;1954072;1954074;1954076;1954078;1954080;1954082;1954084;1954086;1954088;1954090;1954092;1954094;1954096;1954098;1954100;1954102;1954104;1954106;1954108;1954110;1954112;1954114;1954116;1954118;1954120;1954122;1954124;1954126;1954128;1954130;1954132;1954134;1954136;1954138;1954140;1954142;1954144;1954146;1954148;1954150;1954152;1954154;1954156;1954158;1954160;1954162;1954164;1954166;1954168;1954170;1954172;1954174;1954176;1954178;1954180;1954182;1954184;1954186;1954188;1954190;1954192;1954194;1954196;1954198;1954200;1954202;1954204;1954206;1954208;1954210;1954212;1954214;1954216;1954218;1954220;1954222;1954224;1954226;1954228;1954230;1954232;1954234;1954236;1954238;1954240;1954242;1954244;1954246;1954248;1954250;1954252;1954254;1954256;1954258;1954260;1954262;1954264;1954266;1954268;1954270;1954272;1954274;1954276;1954278;1954280;1954282;1954284;1954286;1954288;1954290;1954292;1954294;1954296;1954298;1954300;1954302;1954304;1954306;1954308;1954310;1954312;1954314;1954316;1954318;1954320;1954322;1954324;1954326;1954328;1954330;1954332;1954334;1954336;1954338;1954340;1954342;1954344;1954346;1954348;1954350;1954352;1954354;1954356;1954358;1954360;1954362;1954364;1954366;1954368;1954370;1954372;1954374;1954376;1954378;1954380;1954382;1954384;1954386;1954388;1954390;1954392;1954394;1954396;1954398;1954400;1954402;1954404;1954406;1954408;1954410;1954412;1954414;1954416;1954418;1954420;1954422;1954424;1954426;1954428;1954430;1954432;1954434;1954436;1954438;1954440;1954442;1954444;1954446;1954448;1954450;1954452;1954454;1954456;1954458;1954460;1954462;1954464;1954466;1954468;1954470;1954472;1954474;1954476;1954478;1954480;1954482;1954484;1954486;1954488;1954490;1954492;1954494;1954496;1954498;1954500;1954502;1954504;1954506;1954508;1954510;1954512;1954514;1954516;1954518;1954520;1954522;1954524;1954526;1954528;1954530;1954532;1954534;1954536;1954538;1954540;1954542;1954544;1954546;1954548;1954550;1954552;1954554;1954556;1954558;1954560;1954562;1954564;1954566;1954568;2108707;2144356;2212280;2212282;2212284;2212286;2212288;2212290;2212292;2212294;2212296;2212298;2212300;2212302;2212304;2212306;2212308;2212310;2212312;2212314;2212316;2212318;2212320;2212322;2212324;2212326;2212328;2212330;2212332;2212334;2212336;2212338;2212340;2212342;2212344;2212346;2212348;2212350;2212352;2212354;2212356;2212358;2212360;2212362;2212364;2212366;2212368;2212370;2212372;2212374;2212376;2212378;2212380;2212382;2212384;2212386;2212388;2212390;2212392;2212394;2212396;2212398;2212400;2212402;2212404;2212406;2212408;2212410;2212412;2212414;2212416;2212418;2212420;2212422;2212424;2212426;2212428;2212430;2212432;2212434;5096437 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EN48106;REN48107;REN48108;REN48109;REN48110;REN48111;REN48112;REN48113;REN48114;REN48115;REN48116;REN48117;REN48118;REN48119;REN48120;REN48121;REN48122;REN48123;REN48124;REN48125;REN48126;REN48127;REN48128;REN48129;REN48130;REN48131;REN48132;REN48133;REN48134;REN48135;REN48136;REN48137;REN48138;REN48139;REN48140;REN48141;REN48142;RH102937;RH66257;SHGC-105284;SHGC-147186;SHGC-147980;SHGC-57955;WI-19381;stSG632077;stSG632078;stSG632079;stSG632080;stSG632083;stSG632084;stSG632085;stSG632086;stSG632087;stSG632088;stSG632089;stSG632090;stSG632091;stSG632092;stSG632093;stSG632094;stSG632095;stSG632096;stSG632097;stSG632098;stSG632099;stSG632100;stSG632101;stSG632102;stSG632103;stSG632104;stSG632105;stSG632106;stSG632107;stSG632108;stSG632109;stSG632110;stSG632111;stSG632112;stSG632114;stSG632115;stSG632116;stSG632117;stSG632118;stSG632119;stSG632120;stSG632121;stSG632122;stSG632123;stSG632124;stSG632125;stSG632126;stSG632127;stSG632128;stSG632129;stSG632130;stSG632131;stSG632132;stSG632133;stSG632134;stSG632135;stSG632136;stSG632137;stSG632138;stSG632139;stSG632140;stSG632141;stSG632142;stSG632143;stSG632145;stSG632146;stSG632147;stSG632148;stSG632149;stSG632150;stSG632151;stSG632152;stSG632153;stSG632154;stSG632156;stSG632158;stSG632161;stSG632163 ATL1;ATL1-alpha;ATL1-beta;ATL1-delta;ATL1-gamma;BCL-11B;CTIP-2;CTIP2;RIT1;ZNF856B;hRIT1-alpha;hRit1 ATL1 zinc finger protein;ATL1-alpha zinc finger protein;ATL1-beta zinc finger protein;ATL1-delta zinc finger protein;ATL1-gamma zinc finger protein;B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion protein;B-cell lymphoma/leukaemia 11B;B-cell lymphoma/leukemia 11B;BCL11B/TRDC fusion;COUP-TF-interacting protein 2;OTTHUMP00000067186;OTTHUMP00000067187;radiation-induced tumor suppressor gene 1 protein;zinc finger protein hRit1 alpha APPROVED protein-coding ENSG00000127152 HGNC:13222 05950 606558 REVIEWED 1352362 BCL2L2 BCL2-like 2 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010] 14 14 14 q11.2-q12 3638729 3643685 + 23775971 23790241 + 23306762 23311759 + 1580863;2313963;2313975;6480464 17322918;18817839 10381646;10737800;11152643;11423909;11483855;11546872;12115603;12477932;12651847;12660157;12952938;15147516;15342556;15489334;15694340;15790807;16344560;16475813;16697956;17289999;17306351;17459056;18692484;19097687;19114998;19124064;19141860;19322201;19336552;19369647;19451595;19573080;19654003;19913121;20062536;20213841;20501806;20510331;20515870;20575554;20628086;20696142;20736132;20808289;20819778;20855536;20959405;21060336;21822301;21947305;22000515;22138435;22570867;22780970;22850539;23337879;23369735;23708561;24491548;24747052;24946210;24999239;8761287;9039502;9430630;9500547;9731710 599 G3V3B7;G3V3G8;G3V4B7;G3V5A9;H0YJC7;Q92843 AA524030;AA741032;ABBA01061318;AK289519;AL049829;AMYH02028869;BC021198;BC104789;BC113522;BP216712;BQ001111;BQ359913;BT019549;CH471078;D87461;DA196433;DA288957;DA451936;NM_001199839;NM_004050;U59747 AAB09055;AAH21198;AAI04790;AAI13523;AAV38356;ADR82846;BAA19666;BAF82208;EAW66169;NP_001186768;NP_004041;Q92843 Hs.410026;Hs.735863 1687968;1795422;2190525;2191727 BCL2L2_718;EST16D6;MARC_5753-5754:996690790:1;RH75103 BCL-W;BCL2-L-2;BCLW;KIAA0271;PPP1R51 BCL2-like 2 protein;OTTHUMP00000027940;OTTHUMP00000246228;OTTHUMP00000246229;apoptosis regulator BCL-W;bcl-2-like protein 2;protein phosphatase 1, regulatory subunit 51 APPROVED protein-coding ENSG00000129473 HGNC:995 03569 601931 REVIEWED 1320527 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p16.1 60521903 60624215 - 60678302 60780633 - 60451167 60553498 - 1580863;6480464;8554872 10744719;10757802;11161790;11347906;11719382;11830502;11986957;12477932;14702039;15489334;15639232;16091750;16147992;16704730;16871282;17672918;17767159;18245381;18667698;18681895;18691915;18714373;18854154;18948576;19020323;19056937;19153051;19369625;19616629;19657335;19670153;19696200;19720844;19833888;19862010;19913121;20018918;20075150;20183929;20379614;20395365;20472475;20542454;20575024;20578197;20581827;20623620;20628086;20889853;21068433;21157349;21267535;21326311;21493818;21832049;21864053;21890473;21988832;22012869;22094256;22113416;22258351;22271886;22505724;22675500;22739175;22936743;23094636;23209159;23222517;23223429;23406172;23438597;23541515;23576758;23646285;23752268;23758992;23777413;23975195;24115442;24502199;9847074 53335 B4DT16;D6W5D9;D9YZV9;Q9H165 AB058712;ABBA01075329;ABBA01075330;ABBA01075331;ABBA01075332;AC007381;AC009970;AF080216;AJ404611;AJ404612;AJ404613;AK001035;AK055251;AK092316;AK297507;AK300012;AMYH02003909;AY228763;AY692278;BC021098;BG393787;CH471053;GU324936;GU324937;JN852960;NG_011968;NM_018014;NM_022893;NM_138559 AAG49025;AAH21098;AAO88272;AAU04557;AAX93205;AAY14784;ABZ92151;ABZ92337;ADL14507;ADL14508;AEV45616;BAB47438;BAG51490;BAG52530;BAG59920;BAG61828;CAC17723;CAC17724;CAC17725;EAX00035;EAX00036;EAX00037;EAX00038;EAX00039;EAX00040;EAX00041;NP_060484;NP_075044;NP_612569;Q9H165 Hs.370549 1334890;1643959;1658750;1664458;1682595;1683978;1719407;1788800;1791157;2187267;2218304 BCL11A_4045;D2S1422;D2S2198;G34992;RH123484;RH138170;RH45041;RH70463;RH80326;RH94052;UniSTS:258468 BCL-11A;BCL11A-L;BCL11A-S;BCL11A-XL;BCL11a-M;CTIP1;EVI-9;EVI9;FLJ10173;FLJ34997;HBFQTL5;KIAA1809;ZNF856 B-cell CLL/lymphoma 11A (zinc finger protein) isoform 2;B-cell lymphoma/leukemia 11A;BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1;C2H2-type zinc finger protein;COUP-TF-interacting protein 1;OTTHUMP00000159788;OTTHUMP00000159789;OTTHUMP00000201250;OTTHUMP00000202083;OTTHUMP00000202084;OTTHUMP00000202085;ecotropic viral integration site 9 homolog;ecotropic viral integration site 9 protein homolog;zinc finger protein 856 APPROVED protein-coding ENSG00000119866 HGNC:13221 05949 606557 REVIEWED 1315911 BCL2L13 BCL2-like 13 (apoptosis facilitator) This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] 22 22 22 q11.1 1741236 1831699 + 18111621 18213621 + 17638112 17730855 + 1580863;6480464 10591208;11262395;11381032;12477932;12527362;14702039;15146197;15461802;15489334;16189266;16189514;16344560;17081983;17360363;17974005;18519826;18669648;19064571;19643727;20068093;20109966;20179162;20237496;20379614;20713527;20855536;20877624;21139048;21832049;21890473;21906983;22921587;24706805 23786 A8K5Y4;B7Z238;B7Z737;E9PDD6;F2Z2C3;H0Y3R5;Q86T62;Q8IZP5;Q9BXK5 ABBA01001432;ABBA01001433;ABBA01001434;ABBA01001435;ABBA01001436;ABBA01001437;ABBA01001438;AC006285;AF086412;AF146568;AF183411;AF246665;AF325209;AF539453;AK027443;AK056248;AK075044;AK291449;AK294286;AK301394;AK314489;AL133029;AL831982;AMYH02038008;AMYH02038009;AMYH02038010;AMYH02038011;AMYH02038012;AMYH02038013;BC003032;BC007658;BC016037;BE900458;BI560132;BX354578;BX407004;CH471193;CN420914;CR456521;DA154984;DA169152;DA478149;DA799358;DC341613;NM_001270726;NM_001270727;NM_001270728;NM_001270729;NM_001270730;NM_001270731;NM_001270732;NM_001270733;NM_001270734;NM_001270735;NM_015367;NR_073068;NR_073069;XM_006724075;XM_006724076;XR_430391 AAF03602;AAG09680;AAH07658;AAH16037;AAK15150;AAK27358;AAN10130;ABM84173;ABM87575;BAF84138;BAG37090;BAG51659;BAH11724;BAH13473;CAB61361;CAD89976;CAG30407;CAK54552;CAK54851;EAW57766;EAW57767;EAW57768;NP_001257655;NP_001257656;NP_001257657;NP_001257658;NP_001257659;NP_001257660;NP_001257661;NP_001257662;NP_001257663;NP_001257664;NP_056182;Q9BXK5;XP_006724138;XP_006724139 Hs.631672 1647977;1700730;1788968;2144620;2153622;5019835;5124656 A010A02;D22S1246;G33035;G65560;RH103990;RH11337;RH48192 BCL-RAMBO;Bcl2-L-13;MIL1 OTTHUMP00000196198;OTTHUMP00000196199;OTTHUMP00000196200;OTTHUMP00000233719;bcl-2-like protein 13 APPROVED protein-coding ENSG00000099968 HGNC:17164 09822 REVIEWED 1603456 BCL2L15 BCL2-like 15 INVOLVED IN apoptotic process (inferred); FOUND IN cytosol (inferred); nucleus (inferred); INTERACTS WITH cadmium dichloride; zinc atom; zinc(0) 1 1 1 p13.2 112648655 112659386 - 114419436 114430230 - 113876814 113887608 - 6480464 12477932;12700646;15489334;15961081;16690252;16710414;17412810;23535729 440603 I6LA81;Q5TBC7 ABBA01068458;AI821052;AK026241;AK289439;AL137856;AMYH02001776;AY265861;AY265862;AY265863;AY265864;BC127719;BC127720;BC132904;BC132906;BX116361;CR749373;NM_001010922;XM_005270877 AAI27720;AAI27721;AAP93855;AAP93856;AAP93857;AAP93858;BAF82128;CAH18226;NP_001010922;Q5TBC7;XP_005270934 Hs.123106 1685399;5014051;5016700;5022200;5022651;5037552;5117897 D11S2921;D8S2278;D8S2279;GDB:631813;L18426;RH79802;RH98904 Bfk;C1orf178;FLJ22588 OTTHUMP00000013724;OTTHUMP00000213302;bcl-2-like protein 15;bcl2-L-15;pro-apoptotic Bcl-2 protein protein-coding HGNC:33624 16920 VALIDATED 5507955 BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough This locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] 14 14 q 23775971 23795394 + 23306762 23326185 + 6480464;8554872 12477932;20967262;21890473;21906983;23000965 100529063 ABBA01061318;ABBA01061319;ABBA01061320;AL049829;AMYH02028869;BC011637;NM_001199864 NP_001186793 Hs.707712 1690290;2138799;2191547;5022232 MARC_26170-26171:1030649367:1;RH47139;RH65111;SHGC-57254 OTTHUMP00000246232;OTTHUMP00000246234 protein-coding HGNC:42959 REVIEWED 735516 BCL2L1 BCL2-like 1 The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic inhibitor and the shorter form acts as an apoptotic activator. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 27008611 27067007 - 30252261 30311752 - 31664452 31723955 - 1300048;1580863;1579980;1579966;1643478;1643480;1643492;1643477;1643481;1643482;1643483;1643491;1643493;1643525;2292685;1643474;1643476;1643479;1643494;2314140;2313975;2292910;6480464;6484113;6907045 12025227;15632274;15717629;16850344;16886624;16962107;17224795;17311011;17322918;17467744;17640403;17653717;17675586;17700647;17706879;17870134;18047955;18342927;18959742 10049775;10075695;10085290;10195903;10198631;10217402;10330179;10365962;10446169;10467396;10467399;10620799;10625696;10679027;10713718;10716992;10737788;10802717;10807576;10837489;10891504;10949025;11044452;11054413;11060313;11077446;11123279;11126360;11175750;11206074;11278245;11279541;11283018;11342619;11423909;11437653;11463391;11463392;11483855;11494146;11574549;11583631;11696595;11714801;11733517;11739707;11742726;11756417;11780052;11788897;11801602;11815602;11832478;11859372;11883953;11911810;11941452;11964315;11965035;11971963;11994280;12000759;12011449;12046686;12070027;12079401;12108390;12115603;12137781;12161031;12186923;12198137;12204872;12209955;12214154;12244097;12372300;12381725;12387875;12439925;12477932;12510191;12515824;12553012;12579342;12592339;12594175;12637494;12667443;12721288;12738789;12767928;12783855;12810626;12815463;12853473;12855666;12901880;12937123;12963020;12969962;14502257;14520471;14573608;14596824;14625274;14631373;14656874;14656879;14668940;14735465;14739602;14752512;14764594;14960327;14963330;14980220;15006356;15030396;15034060;15077116;15079071;15124764;15131699;15156398;15179366;15231831;15292226;15292519;15323553;15353804;15375594;15385505;15459189;15459197;15477204;15489334;15574335;15625014;15625897;15637055;15638362;15638369;15653751;15657349;15657350;15694340;15694358;15705582;15721256;15722788;15725478;15733859;15767554;15770735;15782132;15827323;15837790;15870695;15901672;15961228;16048439;16052512;16077903;16081848;16085054;16085058;16148096;16151013;16189514;16192647;16204228;16253528;16260615;16282323;16368107;16403219;16492678;16572289;16572323;16603546;16608847;16632475;16650855;16684963;16697956;16723699;16773221;16790528;16794010;16810067;16815550;16835272;16850161;16928273;16959370;16983335;17046835;17110373;17209561;17227835;17237249;17272823;17274640;17289999;17301078;17311927;17369848;17384650;17404017;17418785;17428862;17439414;17457084;17492131;17519046;17525735;17534896;17633465;17652760;17657164;17659302;17673921;17699158;17803695;17873279;17880809;17893147;17911582;17923112;17923691;17927446;17942397;18051367;18069888;18079751;18088462;18171672;18182854;18196538;18216295;18220834;18250306;18262222;18285708;18299329;18309324;18428028;18494061;18511705;18534987;18543286;18566606;18568767;18580065;18590823;18594472;18609706;18628207;18636124;18641390;18718060;18768389;18775810;18786178;18806875;18813778;18818203;18820703;18835031;18843207;18974096;19008458;19020723;19043455;19049976;19060904;19064571;19165861;19180116;19199036;19211554;19212627;19219602;19220664;19236754;19242522;19317621;19336552;19395874;19397698;19439449;19459857;19467764;19475409;19520842;19530162;19567200;19573080;19587033;19634140;19667065;19670908;19692168;19713971;19723045;19763917;19767770;19773279;19797069;19820711;19834061;19838163;19878271;19883274;19916559;19917720;19948828;19955567;20045442;20048149;20051518;20063052;20090905;20100468;20106970;20140092;20178603;20192224;20203691;20213502;20223826;20308427;20331635;20347499;20363734;20400521;20453000;20468060;20507983;20554038;20580954;20581863;20628624;20661931;20673843;20728382;20803149;20818434;20855536;20858890;21033220;21080944;21139048;21148306;21173168;21187157;21203533;21226954;21256112;21277008;21292770;21320495;21339291;21367852;21396851;21399876;21424121;21458670;21527247;21533126;21567405;21589877;21639858;21656147;21659544;21669490;21674052;21674599;21726118;21840391;21852238;21854985;21856303;21863213;21887277;21890473;21900206;21906983;21952639;21971866;21980434;21988832;22009326;22072718;22084435;22098591;22099018;22119486;22127243;22138435;22141411;22158966;22160868;22197371;22211240;22213163;22219388;22235227;22240664;22267549;22354970;22393362;22403404;22433870;22440396;22440942;22454513;22464442;22486615;22515821;22522453;22552851;22589539;22609401;22617334;22627140;22670675;22685558;22686245;22705850;22729867;22732506;22797576;22884477;22892098;22898820;22933114;22949227;22960132;22987535;23000965;23013270;23028682;23051936;23064052;23079612;23091012;23171055;23243017;23275004;23292448;23333404;23369735;23382671;23392805;23442864;23475955;23519249;23562578;23573264;23708869;23756231;23798675;23802633;23812727;23823868;23828460;23887890;23908595;23954445;23960074;23977882;24038028;24050266;24055032;24091677;24116174;24217227;24217388;24297914;24313893;24491557;24508256;24650799;24808369;24814347;24816145;24982172;24999239;25025927;7540278;7644501;7650367;7834748;8358789;8596636;8692274;8929532;9020082;9027312;9027313;9111042;9130713;9153240;9184696;9192670;9305851;9326610;9334338;9372935;9388232;9389483;9393856;9430630;9435230;9488720;9525867;9539746;9660918;9675101;9727492;9731710;9742125;9765397;9824152;9843949;9973195 598 Q07817;Q5QP56;Q5QP59;Q5TE63;Q5TE64;Q9H1R6 ABBA01019297;ABBA01019298;ABBA01019299;ABBA01019300;ABBA01019301;AK290968;AL117381;AL160175;AMYH02036905;AMYH02036906;AMYH02036907;AY263335;AY263336;AY263337;BC019307;BT007208;BX647525;CH471077;CR936637;FB721215;FB725892;HI574024;HI574026;NG_029002;NM_001191;NM_138578;U72398;XM_005260481;XM_005260482;XM_005260483;XM_005260484;XM_005260485;XM_005260486;XM_005260487;XM_006723843;XM_006723844;XM_006723845;Z23115;Z23116 AAB17354;AAH19307;AAP22027;AAP22028;AAP22029;AAP35872;ABM84387;ABM87310;BAF83657;CAA80661;CAA80662;CAI56777;CAT03369;CAT03400;CBX47501;CBX47502;EAW76424;EAW76425;EAW76426;EAW76427;EAW76428;EAW76429;NP_001182;NP_612815;Q07817;XP_005260538;XP_005260539;XP_005260540;XP_005260541;XP_005260542;XP_005260543;XP_005260544;XP_006723906;XP_006723907;XP_006723908 Hs.516966 1687343;1777427;1793280;1793718;1793856;1794898;1794900;1795054;1795056;1795058;1795420;5016400;5017825;5019401 BCL2L1;BCL2L1_1568;D17S2108;PMC156147P6;PMC20354P5;PMC262691P2;PMC300830P1;PMC84055P1;PMC84055P2;PMC92563P1;PMC92563P2;PMC92563P3;RH25072;Z94537 BCL-XL/S;BCL2L;BCLX;BCLXL;BCLXS;Bcl-X;DKFZp781P2092;PPP1R52;bcl-xL;bcl-xS OTTHUMP00000030550;OTTHUMP00000030551;OTTHUMP00000030552;OTTHUMP00000030553;OTTHUMP00000030555;OTTHUMP00000030556;OTTHUMP00000030557;apoptosis regulator Bcl-X;bcl-2-like protein 1;bcl2-L-1;protein phosphatase 1, regulatory subunit 52 APPROVED protein-coding ENSG00000171552 HGNC:992 02497 600039 REVIEWED 1344720 BCL5 B-cell CLL/lymphoma 5 2682663;8400234 603 HGNC:1000 151441 1603380 BCL2L14 BCL2-like 14 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009] 12 12 12 p13-p12 17366919 17395671 + 12223873 12252629 + 12070944 12099695 + 2315712;6480464;8554872 14999772 11054413;11896457;12136098;12440815;12477932;15284860;15489334;16484005;17280616;17557568;18006276;18029348;19524489;19671159;19913121;20379614;20628086;20677014;20855536;21550398;22573796;23077088;8125298 79370 C9J3S1;C9K0Q9;K7EKK7;K7EMX4;Q9BZR8 ABBA01067828;ABBA01067829;AC007537;AF281254;AF281255;AJ329005;AK000127;AK026440;AK223415;AK292995;AMYH02026048;AX174783;AY040274;BC025778;BC038742;CH471094;HC679613;NG_029375;NM_030766;NM_138722;NM_138723;XM_006719151 AAG59793;AAG59794;AAH25778;AAK72109;BAD97135;BAF85684;CAC43798;CBL93958;EAW96247;EAW96248;EAW96249;EAW96250;EAW96251;NP_110393;NP_620048;NP_620049;Q9BZR8;XP_006719214 Hs.210343;Hs.734567 1661982;1797314;2187605;2217568;5037552 BCLG_1767;D8S2279;LRP6_4011;WI-16673;WI-18051 BCLG OTTHUMP00000215698;OTTHUMP00000215700;apoptosis facilitator Bcl-2-like protein 14;apoptosis regulator BCL-G;bcl2-L-14 APPROVED protein-coding ENSG00000121380 HGNC:16657 05841 606126 REVIEWED 1319851 BCL7A B-cell CLL/lymphoma 7A This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.13 122097731 122138585 + 122459861 122499950 + 122021955 122062044 + 6480464 12477932;14743216;15489334;15897551;18663754;19336552;19573080;19773279;20360068;20460684;20562864;21145461;21890473;22856870;23043359;24026423;24250222;24816145;8605326;9931421 605 Q4VC05 ABBA01020197;ABBA01020198;AC069503;AC145420;AC156455;AK296159;AK316486;AMYH02027407;AMYH02027408;AMYH02027409;AMYH02027410;BC094723;BC113627;BM801030;CH471054;NM_001024808;NM_020993;X89984 AAH94723;AAI13628;ADR82878;BAG58898;BAH14857;CAA62011;EAW98301;EAW98302;NP_001019979;NP_066273;Q4VC05 Hs.530970 1699300;1720553;1746355;1758221;1782646;1795428;2125142;5125068 BCL7A_1791;G59230;G64631;RH103236;RH67957;RH80875;SHGC-147729;SHGC-149267 BCL7 B-cell CLL/lymphoma 7 protein family member A;B-cell CLL/lymphoma-7;OTTHUMP00000239804;OTTHUMP00000239805 APPROVED protein-coding HGNC:1004 03243 601406 REVIEWED 1349060 BCL6B B-cell CLL/lymphoma 6, member B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene; 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) 17 17 17 p13.1 6951874 6958520 + 6926368 6933609 + 7023050 7029642 + 1580863;6480464;8554872 10965127;11855826;12477932;12659862;14702039;1505991;15489334;1946370;21917650;22279058;24191714;24250222;9632807 255877 A8KA13;H0YGW0;I3L304;I3L396;Q8N143 AB076580;AB076581;ABBA01054846;AC040977;AK024695;AK122893;AK292878;AK293102;AMYH02032882;BC059404;CH471108;M88371;NM_181844 AAA61329;AAH59404;ABZ92123;BAC00962;BAC00963;BAF85567;BAF85791;BAG53785;EAW90273;EAW90274;NP_862827;Q8N143 Hs.22575 1778268;1848015 AF021126;WI-13656 BAZF;ZBTB28;ZNF62 B-cell CLL/lymphoma 6 member B protein;B-cell CLL/lymphoma 6, member B (zinc finger protein);bcl6-associated zinc finger protein;zinc finger protein 62 APPROVED protein-coding ENSG00000161940 HGNC:1002 16414 608992 VALIDATED 9587190 BCL9P1 B-cell CLL/lymphoma 9 pseudogene 1 5 5 5 63930373 63932933 + 66932210 66934770 + 67636382 67638942 + 100419324 ABBA01048304;AC112206;AMYH02011451 pseudo HGNC:51328 MODEL 1314971 BCL3 B-cell CLL/lymphoma 3 This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008] 19 19 19 q13.1-q13.2 42056341 42067659 + 45246070 45263301 + 44742817 44760044 + 1580863;6480464;6484113;8699517 10362352;10469655;10497212;10607713;11387332;11485202;11707390;12456498;12477932;12730195;12808109;1406939;14678988;1501714;15105810;15469820;15489334;15634875;15829968;16099425;16108830;16123212;16280327;16306601;16311697;16331275;16384933;16732314;16940298;17272867;17495977;17644518;17881446;17923499;17962807;17963943;18025803;18796561;18940474;19191868;19229118;1923524;19282837;19383626;19451226;19494302;19617629;19806201;19893491;19913121;19936222;20226764;20414006;20471052;20547759;20558726;20572854;20601676;20634891;20658525;20672350;20731879;20737317;20800578;20974051;21048031;2124350;2180580;21912613;21988832;22580608;22782967;23115114;23149915;23494744;23534762;23565137;23607276;23669365;23794716;23898208;24130828;24867235;7691160;7896265;8196632;8330739;8428580;8453667;8497270;9218802;9407099;9576921;9812988 602 H7C0A2;P20749 ABBA01040882;AC092066;AK296180;AK309453;AMYH02036179;AMYH02036180;BC064993;BU501187;CH471126;M31731;M31732;NM_005178;XM_005259129;Z15098 AAA51815;AAA51816;AAH64993;BAH12275;EAW57291;NP_005169;P20749;XP_005259186 Hs.31210 1689789;1741941;1792824;1795426;1851782;5122599 BCL3_1822;GDB:186920;PMC164841P1;RH75793;RH78499;STS-M31732 BCL-3;BCL4;D19S37 B-cell leukemia/lymphoma 3;B-cell lymphoma 3 protein;B-cell lymphoma 3-encoded protein;OTTHUMP00000200151;OTTHUMP00000200152;chronic lymphatic leukemia protein;proto-oncogene BCL3 APPROVED protein-coding ENSG00000069399 HGNC:998 00179 109560 REVIEWED 9587273 BCLAF1P1 BCL2-associated transcription factor 1 pseudogene 1 5 5 5 q22.1 106227903 106232656 - 110281972 110286725 - 110946273 110951026 - 728366 ABBA01069074;AC010395;AMYH02011963;NG_005782 pseudo HGNC:51329 INFERRED 1315830 BCL9 B-cell CLL/lymphoma 9 BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008] 1 1 1 q21 121885985 121970836 - 147013222 147098022 + 147541401 147626219 + 1580863;6480464;8554872 10602418;11955446;12047235;12477932;14612447;15146197;15294866;15302935;16344560;17052462;17113272;18187620;18347063;18498752;18789482;19322201;19328798;19715304;19738061;19913121;20379614;20628086;20637214;21383261;22024689;22914623;23382809;24025145;24419084;24550385;24599134;9490669 607 O00512;Q1JQ81 ABBA01004401;AC242628;AL359207;AL590667;AW104430;BC116451;CH471223;CN281037;CN281038;DA593760;HI574316;NM_004326;XM_005272971;XM_005277417;XM_005277418;XM_006711483;Y13620 AAI16452;CAA73942;CAI15198;CBX47647;EAW50932;EAW50933;NP_004317;O00512;XP_005273028;XP_005277474;XP_005277475;XP_006711546 Hs.415209 1689813;1715867;1756505;1774865;1795432;2189325;5022689 AL009676;BCL9;BCL9_52;MARC_1017-1018:991929864:1;RH119628;RH41927;SHGC-143527 LGS;MGC131591;bcl-9 B-cell CLL/lymphoma 9 protein;B-cell lymphoma 9 protein;OTTHUMP00000015909;protein legless homolog APPROVED protein-coding ENSG00000116128 HGNC:1008 04000 602597 REVIEWED 1319642 BCL6 B-cell CLL/lymphoma 6 The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 3 3 3 q27 185870167 185894514 - 187439165 187463513 - 187721377 187745725 - 1600111;1580863;6480464;6484113 11821949 10490843;10601358;10611298;10898795;11175338;11342629;11854457;11865059;11911418;11914273;11920179;11929873;11994280;12004059;12097386;12165517;12217802;12389616;12393409;12402037;12413700;12469325;12477932;12477975;12507907;12515714;12518453;12555064;12562237;12590135;12659862;12775568;12835729;12860928;12879322;12881702;12970571;14551142;14654791;14655758;14690607;14702039;15004558;15024721;1505991;15146197;15191563;15202519;15277222;15339680;15377470;15454082;15509806;15531890;15577913;15609396;15849194;16094416;16125304;16142238;16147992;16194898;16249378;16264183;16344560;16455075;16489068;16704730;16728698;16733207;16766263;16772602;16773719;16815642;16819511;16896311;16943429;17151114;17210865;17296585;17360630;17392284;17403935;17468402;17476282;17542409;17545502;17558410;17576390;17594153;17625604;17635238;17689208;17785208;17828269;17889713;17989715;17989722;18029348;18166802;18203018;18212045;18256039;18280243;18346918;18354204;18487509;18494554;18500267;18604721;18636124;18660489;18675787;18676680;18776761;18801072;19052359;19121354;19141860;19170196;19236753;19268365;19307668;19336552;19337254;19367498;19379553;19448593;1946370;19465899;19487462;19525926;19549844;19564417;19573080;19575892;19625176;19631565;19656156;19692168;19701248;19773279;19787248;19797315;19797429;19797725;19816083;19855081;19925052;19965633;19966776;20032416;20124477;20160358;20175752;20237496;20299965;20348878;20379614;20385356;20453000;20547840;20557674;20630860;20733034;20807888;20830719;20935202;20959405;20966935;20981461;21048031;21055028;21092586;21390126;21424034;21509594;21623692;21725042;21783402;21785430;21788950;21855110;21906983;21911423;21988858;22113614;22124122;22158496;22204827;22395507;22427637;22451912;22493480;22649468;22668559;22797727;22833560;22893614;22968395;22994707;23042398;23166356;23269799;23284291;23335369;23348205;23476051;23509938;23534349;23708665;23716595;23749188;23817569;23817571;23852366;23898208;23911289;23954399;23974956;24009228;24114011;24146931;24220798;24678684;24767250;24863065;24878528;7639334;7795234;7795255;8220427;8235596;8274736;8274740;8506375;8618933;8692924;8758205;9047392;9110977;9135990;9171827;9311010;9380707;9624052;9627120;9632807;9649500;9753732;9765306;9927193 604 B5B0A5;C9JCS5;C9JL16;P41182 ABBA01058367;AC072022;AF240680;AI624861;AK090890;AK304325;AK308162;AMYH02008368;AMYH02008369;AW337942;AW470156;BC142705;BC146796;BC150184;BX649185;CH471052;CN401512;DB025893;DB079847;EU139066;EU883531;M88362;NG_007149;NM_001130845;NM_001134738;NM_001706;S67779;U00115;XM_005247694;Z21943;Z79581 AAA61320;AAC50054;AAI42706;AAI50185;ABX45135;ACG60659;BAG65174;CAA79937;CAE46203;EAW78140;EAW78141;NP_001124317;NP_001128210;NP_001697;P41182;XP_005247751 Hs.478588 1661104;1674103;1792134;1793922;1850777;1852456;2131338;2167935;2172777;2176950;5095000 BCL6;PMC137537P1;PMC309637P2;RH47862;RH69801;RH70520;SHGC-34056;SHGC-64334;SHGC-77610;SHGC-77640;STS-W46183 BCL-5;BCL-6;BCL5;BCL6A;LAZ3;ZBTB27;ZNF51 B-cell lymphoma 5 protein;B-cell lymphoma 6 protein;B-cell lymphoma 6 protein transcript;OTTHUMP00000209895;OTTHUMP00000209897;OTTHUMP00000209900;cys-his2 zinc finger transcription factor;lymphoma-associated zinc finger gene on chromosome 3;protein LAZ-3;zinc finger and BTB domain-containing protein 27;zinc finger protein 51;zinc finger transcription factor BCL6S APPROVED protein-coding ENSG00000113916 HGNC:1001 00180 109565 REVIEWED 1318207 BCL7C B-cell CLL/lymphoma 7C This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 16 16 16 p11 29392347 29398624 + 30845373 30905852 - 30834041 30894302 - 6480464;8554872 12477932;15302935;15345747;15489334;17081983;17207965;18809673;19336552;19471022;19573080;19759913;19773279;21832049;23275444;8605326;9931421 9274 I3L1Q2;I3L4D5;Q8WUZ0 ABBA01042062;ABBA01042063;ABBA01042064;ABBA01042065;ABBA01042066;ABBA01042067;AC135048;AC138417;AJ223980;AMYH02031832;AMYH02031833;AMYH02031834;AMYH02031835;BC019071;BC058863;BG055884;CH471192;NM_001286526;NM_004765 AAH19071;AAH58863;ADQ32980;ADZ15675;CAA11754;EAW52193;NP_001273455;NP_004756;Q8WUZ0 Hs.658547 2124748 D16S3338 B-cell CLL/lymphoma 7 protein family member C;OTTHUMP00000163247;OTTHUMP00000163248 APPROVED protein-coding ENSG00000099385 HGNC:1006 05787 605847 REVIEWED 1349003 BCL7B B-cell CLL/lymphoma 7B This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010] 7 7 7 q11.23 68428601 68449940 - 72950683 72972065 - 73536353 73557735 - 1302558;6480464 9806765 12477932;14702039;15489334;16344560;18193044;20360068;20571754;20864672;20972250;21044950;21300955;21890473;22082156;23018576;23505323;24250222;8605326;9860302;9931421 9275 F2Z3H6;F8WDZ4;F8WE18;Q9BQE9 ABBA01063951;AC005089;AJ223979;AK290091;AL525884;AL553260;AMYH02016023;AMYH02016024;AW328570;BC000956;BC001967;BC009548;BI603803;BI837138;BQ109412;CH471200;DA688517;NG_027959;NM_001197244;NM_001301061;NM_001707;NR_036682;X89985;XM_006716177 AAH00956;AAH01967;AAH09548;ABM84642;ABM92173;BAF82780;CAA11753;CAA62012;EAW69675;EAW69676;EAW69677;EAW69678;NP_001184173;NP_001287990;NP_001698;Q9BQE9;XP_006716240 Hs.647051 1689484;1735632;1790441;1795430;1853893;2116964 BCL7B_80;D7S2038E;D7S3295;RH69607;RH79567;STS-H69097 B-cell CLL/lymphoma 7 protein family member B;OTTHUMP00000160391;OTTHUMP00000211550 APPROVED protein-coding ENSG00000106635 HGNC:1005 05786 605846 REVIEWED 1319242 BCL9L B-cell CLL/lymphoma 9-like ENCODES a protein that exhibits beta-catenin binding; INVOLVED IN negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; positive regulation of transcription from RNA polymerase II promoter; FOUND IN nucleus; INTERACTS WITH afimoxifene; aflatoxin B1; benzo[a]pyrene diol epoxide I 11 11 11 q23.3 115926540 115941305 - 118766849 118796327 - 118896140 118925618 - 6480464 12477932;12964048;15371335;15574752;17052462;17113272;18029348;19328798;20467438;20637214;21703997;22109522;24255178 283149 E9PNR0;Q86UU0 AB094091;ABBA01039689;AK122650;AK122882;AMYH02025657;AP004609;AY296059;BC033257;CH471065;NM_182557;XM_005271511;XM_005271512;XM_005271513;XM_006718815 AAH33257;AAI56198;AAQ62697;BAC76045;BAC85500;BAC85512;EAW67418;NP_872363;Q86UU0;XP_005271568;XP_005271569;XP_005271570;XP_006718878 Hs.414740 1703222;5107489;5493885 Bcl9l;D11S795;SGC32303 BCL9-2;DLNB11 B-cell CLL/lymphoma 9-like protein;B-cell lymphoma 9-like protein;BCL9-like protein;OTTHUMP00000232840;OTTHUMP00000232841;nuclear co-factor of beta-catenin signalling protein-coding HGNC:23688 10612 609004 VALIDATED 1320189 BCLAF1 BCL2-associated transcription factor 1 This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q23.3 137318441 137351433 - 136578001 136611783 - 136256863 136290645 - 6480464 10330179;10837489;12477932;12890497;14574404;15009215;15302935;15324660;15489334;15659558;15681850;16055720;16083285;16159877;16196087;16565220;16964243;17081983;17620599;17938203;18029348;18271526;18976975;19471022;19705920;19805454;20020773;20360068;20661537;20855536;21139048;21145461;21182205;21282530;21454709;21693764;21890473;21906983;22113938;22645331;22833098;22952844;22990118;23000965;23184937;23364796;23383273;23398456;23602568;23752268;23778535;23824909;24250222;24337577;24389646;24457600;24654937;24657165;24816145;24984263;25027693;8724849 9774 B0AZU3;E9PJA7;E9PK09;E9PK91;E9PKI6;E9PQN2;H0YF00;H0YF14;H0YF63;Q9NYF8 ABBA01025829;AF249273;AK303559;AK308870;AK309259;AK315884;AL121713;AMYH02014553;BC016682;BC047687;BC047887;BC056894;BC063846;BC078160;BC132780;BC144281;BC144282;BC144299;BX107174;BX537576;BX648431;BX648878;BX649160;CH471051;D79986;NM_001077440;NM_001077441;NM_001301038;NM_014739;XM_005267236;XM_005267237;XM_005267238;XM_005267239;XR_245558;XR_245559 AAF64304;AAH16682;AAH47687;AAH47887;AAH56894;AAH63846;AAH78160;AAI32781;AAI44282;BAA11481;BAF98775;BAH13985;EAW47949;EAW47950;EAW47951;EAW47952;NP_001070908;NP_001070909;NP_001287967;NP_055554;Q9NYF8;XP_005267293;XP_005267294;XP_005267295;XP_005267296 Hs.486542 1665188;1665190;1671526;1673449;1676426;1679331;1720217;1740131;1744339;2121580;2132002;2184895;2186759;2189551 A005T27;D6S1538;D6S2199;G20483;GDB:451730;RH124022;RH1522;RH25382;RH47371;RH68011;RH93195;SHGC-56727;STS-AA037848;UniSTS:236317 BTF;KIAA0164;bK211L9.1 OTTHUMP00000017270;OTTHUMP00000234711;OTTHUMP00000234733;OTTHUMP00000234734;OTTHUMP00000234777;OTTHUMP00000234778;OTTHUMP00000234780;OTTHUMP00000234781;bcl-2-associated transcription factor 1 APPROVED protein-coding ENSG00000029363 HGNC:16863 16544 612588 REVIEWED 1344218 BCORP1 BCL6 corepressor pseudogene 1 Y Y Y q11.222 6108501 6156219 + 21617317 21665039 - 19455431 19503153 - 12477932;12815422;14702039;9847074 286554 Q8N888 ABBA01073759;ABBA01073760;ABBA01073761;AC010137;AK097140;AK303164;BC063452;BC110520;BC110521;BC122539;NR_002923;NR_033732 BAC04961;BAG64264;Q8N888 Hs.211713 2188631;2188645;2188661;2188677;2188681;5017969;5017971;5022826;5095143;5095145;5095147;5095149;5095151;5095153;5095155;5095157 BCoRP-10;BCoRP-12;BCoRP-13;BCoRP-14;BCoRP-4-1;BCoRP-4-2;BCoRP-4-3;BCoRP-4-4;BCoRP-4-5;BCoRP-4-6;BCoRP-9;G66368;G66375;G66383;G66391;G66543 BCORL2;FLJ39821 BCoR-like protein 2;putative BCoR-like protein 2 APPROVED pseudo HGNC:23953 08266 VALIDATED 1606540 BCOR BCL6 corepressor The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010] X X X p11.4 44049354 44175356 - 39910499 40036643 - 40051246 40177390 - 6480464;7240710;8554872;8699517 10898795;10997877;11777915;12116202;12477932;12522145;12776190;14702039;15004558;15302935;15489334;15770227;15878880;16713569;16943429;17517692;18280243;18801742;19121354;19367324;19471022;19578371;20301552;20301694;20431927;20639865;20807888;20854876;21139048;21693764;21890473;21906983;21963094;21987572;22012066;22053931;22301464;22325352;22387997;22505724;23000965;23074094;23470693;23523425;23911289;24047651;24146931;24211586;24285434;24457600;25015289;8125298 54880 A6NE70;C9JHP3;H7BYY2;H7BZ37;H7C231;H7C2V9;Q6W2J9 AB046795;ABBA01046854;ABBA01046855;ABBA01046856;ABBA01046857;ABBA01046858;ABBA01046859;ABBA01046860;ABBA01046861;ABBA01046862;ABBA01046863;ABBA01046864;ABBA01046865;ABBA01046866;ABBA01046867;ABBA01046868;ABBA01046869;ABBA01046870;ABBA01046871;ABBA01046872;ABBA01046873;ABBA01046874;AC091806;AC092198;AF317391;AF317392;AK000292;AK056538;AK074286;AK095360;AK225581;AL591802;AL698729;AMYH02039184;AMYH02039185;AMYH02039186;AY316592;BC009675;BC063536;BC114220;BC128387;BC128456;CH471141;NG_008880;NM_001123383;NM_001123384;NM_001123385;NM_017745;XM_005272616;XM_005272617;XM_005272618;XM_005272619;XM_005272620;XM_006724536 AAG41429;AAG41430;AAH09675;AAH63536;AAI14221;AAI28388;AAR08265;BAA91061;BAB13401;BAB85037;BAG53034;EAW59425;EAW59426;EAW59427;EAW59428;EAW59429;EAW59430;NP_001116855;NP_001116856;NP_001116857;NP_060215;Q6W2J9;XP_005272673;XP_005272674;XP_005272675;XP_005272676;XP_005272677;XP_006724599 Hs.659681 1647633;1649667;1683044;1697002;1702084;1758289;2144369;2188681;2220442 DXS228;DXS7568;DXS992;G66543;RH101975;RH91894;SHGC-147935;SHGC-56557;UniSTS:482364 ANOP2;FLJ20285;FLJ38041;KIAA1575;MAA2;MCOPS2;MGC131961;MGC71031 BCL-6 corepressor;BCL-6 interacting corepressor;BCL6 co-repressor;OTTHUMP00000025761;OTTHUMP00000025763;OTTHUMP00000025766;OTTHUMP00000025767;OTTHUMP00000202255 APPROVED protein-coding ENSG00000183337 HGNC:20893 06458 300166;300485 REVIEWED 1344777 BCPM benign chronic pemphigus (Hailey-Hailey disease) ASSOCIATED WITH Pemphigus, Benign Familial (inferred) 7240710 7981684 HGNC:1013 169600 1346552 BCO1 beta-carotene oxygenase 1 Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008] 16 16 16 q23.2 65569740 65622032 + 81272176 81324747 + 81238691 81291142 + 634553;1580863;6480464;6903956;6484679;6907045;7240710;8554872 10799297;21569862;21718801 10766819;11401432;12477932;14702039;15489334;15583024;15983114;16504037;17951468;18282583;18295589;18464913;19103647;19185284;19662379;19844255;20221844;20599666;21091228;22113863;23134893;23517913;23656756;23727499;23803888;24071514;24106281;24187135;24668807 53630 H3BPA2;H3BV18;Q9HAY6 ABBA01016967;ABBA01016968;ABBA01016969;ABBA01016970;ABBA01016971;AC009148;AC131888;AF294900;AK001592;AK296011;AMYH02032507;AMYH02032508;BC022269;BC126210;BC126212;CH471114;NG_012171;NM_017429 AAG15380;AAI26211;AAI26213;ADR83052;BAA91776;BAG58782;EAW95537;EAW95538;NP_059125;Q9HAY6 Hs.212172 2218306 BCMO1_4442 BCDO;BCDO1;BCMO;BCMO1;BCO;FLJ10730 OTTHUMP00000174978;beta,beta-carotene 15,15'-monooxygenase;beta-carotene 15, 15'-dioxygenase 1;beta-carotene 15,15'-monooxygenase 1;beta-carotene dioxygenase 1 APPROVED protein-coding ENSG00000135697 HGNC:13815 12042 115300;605748 REVIEWED 1349428 BCRL2 breakpoint cluster region-like 2 3267213 614 HGNC:1015 1346589 BCORL1 BCL6 corepressor-like 1 The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] X X X q25-q26.1 129525724 129578619 + 129114277 129192058 + 129980302 130058083 + 6480464;8554872 12477932;14702039;16344560;17379597;17697391;18029348;19471022;21139048;21693764;21906983;21989985;22325352;22505724;23064961;23523425;23793880;24024966;24047651;24457600 63035 H7C4B2;Q5H9F3;V9GYD4 ABBA01047875;ABBA01047876;ABBA01047877;ABBA01047878;ABBA01047879;ABBA01047880;AI209024;AK021424;AK024395;AK074089;AK124676;AL034405;AL096777;AL136450;AMYH02040470;AMYH02040471;AMYH02040472;BC044652;BE244710;BE246581;CH471107;DA227697;KF459398;KF459400;KF510634;NG_021274;NM_021946;XM_005262452;XM_005262453;XM_005262454;XM_005262455;XM_005262456;XM_006724776;XM_006724777;XM_006724778;XM_006724779;Z82208 AAH44652;AAI56743;BAB13821;BAB84915;BAC85922;CAB46626;EAX11815;EAX11816;EAX11817;EAX11818;NP_068765;Q5H9F3;XP_005262509;XP_005262510;XP_005262511;XP_005262512;XP_005262513;XP_006724839;XP_006724840;XP_006724841;XP_006724842 Hs.496748 1677146;1691600;1699392;2156851;2172550;2185192;5037552;5037554 AFM338za9;AL008917;AL032547;D8S2279;D8S2282;DXS9756;RH103287;RH93023 B930011H20Rik;BCoR-L1;CXorf10;FLJ11362;FLJ11632 BCL-6 corepressor-like protein 1;BCL6 co-repressor-like 1;BCoR-like protein 1;OTTHUMP00000023995;OTTHUMP00000023996 APPROVED protein-coding ENSG00000085185 HGNC:25657 06517 300688 REVIEWED 1319131 BCO2 beta-carotene oxygenase 2 This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 11 11 11 q23.1 109199441 109242886 + 112046208 112089652 + 112175485 112218929 + 1580863;6480464 11278918;12477932;14702039;15949678;15983114;16712791;18464913;19913121;20150558;20628086;20967262;21106934;21302131;22610502;24106281;24182552;24982131;8889548 83875 B2RCV8;E9PPP9;E9PS89;H0YCL7;H0YCN8;Q9BYV7 AB096252;ABBA01039801;ABBA01039802;AF276432;AJ290393;AK027801;AK091783;AK297853;AK315300;AMYH02025585;AMYH02025586;AP002884;BC041656;BC047934;BU732625;BX503569;CB162567;CD708042;CH471065;EF444956;NM_001037290;NM_001256397;NM_001256398;NM_001256400;NM_031938 AAH41656;AAK69433;ACA05952;BAB55379;BAC03747;BAG37705;BAG60185;CAC27994;EAW67189;EAW67190;EAW67191;EAW67192;EAW67193;EAW67194;NP_001032367;NP_001243326;NP_001243327;NP_001243329;NP_114144;Q9BYV7 Hs.728325 2133939;5125809 RH77842;SGC30933 B-DIOX-II;BCDO2;FLJ34464 OTTHUMP00000163945;OTTHUMP00000196941;OTTHUMP00000196942;OTTHUMP00000234754;OTTHUMP00000234755;OTTHUMP00000234756;b,b-carotene-9',10'-dioxygenase;beta,beta-carotene 9',10'-dioxygenase variant 1;beta,beta-carotene 9',10'-oxygenase;beta-carotene 9',10' oxygenase;beta-carotene dioxygenase 2;carotenoid-9',10'-cleaving dioxygenase APPROVED protein-coding ENSG00000197580 HGNC:18503 12522 611740 REVIEWED 1344297 BCRP4 breakpoint cluster region pseudogene 4 22 22 q11.22 22972536 22979055 + 22630065 22636584 + 10591208;9074928 616 AC244250;D87002;NG_000002 BCR-4;BCR4;BCRL4 APPROVED pseudo HGNC:1017 VALIDATED 1605782 BCRP2 breakpoint cluster region pseudogene 2 INTERACTS WITH all-trans-retinoic acid 22 22 22 q11.21 4948595 4959912 + 21457305 21476575 + 21103016 21122286 + 6480464 10591208;14702039;3267213 400892 ABBA01055133;ABBA01055134;AK124943;AMYH02038086;AP000550;KF459853;KF459855;KF459856;NR_037566 BAC86000 Hs.745077 BCR-2;BCR2;BCRL2;FLJ36027;FLJ42953 APPROVED pseudo HGNC:1015 13467 VALIDATED 1353768 BCRL6 breakpoint cluster region-like 6 q11.23 10591208 23775 AP000359 protein-coding HGNC:1019 4144675 BCRP1 breakpoint cluster region pseudogene 1 22 22 22 q11.23 8453760 8460124 - 24653368 24659733 - 24257400 24263765 - 22199321;3267213 644079 AMYH02038141;AP000354;NG_009423 BCR-1 pseudo HGNC:39073 INFERRED 1346208 BCRP5 breakpoint cluster region pseudogene 5 22 22 22 q11.21 3168 6689 + 21049726 21053247 - 20695438 20698959 - 10591208 648980 AC007050;AMYH02038078;NG_009418 BCRL5 breakpoint cluster region-like 5 APPROVED pseudo HGNC:1018 INFERRED 4144517 BCRP7 breakpoint cluster region pseudogene 7 22 22 q11.21 18839797 18846153 - 18852284 18858640 - 100133163 AC008103;AC008132;AMYH02038031;NG_009420 pseudo HGNC:39075 INFERRED 1347169 BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012] 2 2 2 q33 213292137 213295924 + 219524379 219528166 + 218659656 218663443 + 1600515;1580863;6480464;7240710;8554872;8699517 11528392 12215968;12477932;14702039;15489334;16169070;16344560;17314340;17403714;18386115;18628306;19162478;19389488;19508421;20301352;20301382;20301403;20518024;20877624;21890473;21900206;21906983;22797925;22939629;22991165;23000965;24172246;8125298;8599931;8619474;9110174;9545407;9792866;9878253 617 A8JZZ8;C9J1S9;C9J4Q9;C9J8G3;C9JAS4;H7BZF6;H7C492;Q9Y276 ABBA01023861;AC009974;AC079810;AF026849;AF038195;AF346835;AF516670;AK096210;AK223518;AK289363;AMYH02005805;BC000416;BC007500;BX571752;CH471063;DA540458;DA613959;EF672347;NG_008018;NG_033099;NM_001079866;NM_001257342;NM_001257343;NM_001257344;NM_004328;XM_005246747;XM_005246748;XM_005246749;XM_006712678;XR_427105 AAB97365;AAD08638;AAH00416;AAH07500;AAK29417;AAN05490;AAY24033;ABM82803;ABM85990;ABV24964;ACE86996;ACE87685;BAD97238;BAF82052;BAG53231;CAE11877;EAW70634;EAW70635;EAW70636;EAW70637;EAW70638;EAW70639;EAW70640;NP_001073335;NP_001244271;NP_001244272;NP_001244273;NP_004319;Q9Y276;XP_005246804;XP_005246805;XP_005246806;XP_006712741 Hs.471401 1299945;1336266;1338282;1659190;1777508;1777510;5020250;7184430 D2S1371;D2S163;D2S434;NIB1635;WI-12445;WI-14333;WI-15403 BCS;BCS1;BJS;FLNMS;Hs.6719;MC3DN1;PTD;h-BCS;h-BCS1 BCS1-like protein;GRACILE;OTTHUMP00000164147;OTTHUMP00000206492;OTTHUMP00000206493;OTTHUMP00000206494;OTTHUMP00000206495;OTTHUMP00000206496;OTTHUMP00000206497;mitochondrial chaperone BCS1;mitochondrial complex III assembly APPROVED protein-coding ENSG00000074582 HGNC:1020 04708 124000;256000;262000;603358;603647 REVIEWED 1352977 BCRP3 breakpoint cluster region pseudogene 3 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH lead(0); lead(2+) 22 22 22 q11.23 7466119 7474738 + 25028882 25049327 + 24632915 24653360 + 6480464;8554872 10591208;16344560;3267213 644165 ABBA01012519;ABBA01055143;ABBA01055144;ABBA01055145;AK297038;AMYH02038146;AP000356;AW193769;BM920079;BX090183;DB345226;NR_024494 BAG59566 Hs.531306;Hs.655234;Hs.730665 5106704;5113551;5117214 GDB:451800;RH66855;RH80432 BCR3;BCRL3;BCRL6 APPROVED pseudo HGNC:1016 VALIDATED 4144530 BCRP6 breakpoint cluster region pseudogene 6 22 22 22 q11.21 8453760 8460124 - 21642518 21648878 - 21288229 21294589 - 728468 AMYH02038087;AP000552;NG_009421 pseudo HGNC:39074 INFERRED 1317506 BCR breakpoint cluster region A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q11.23 7337083 7474738 + 23522402 23660224 + 23180365 23318037 + 1580863;1600510;1600511;6480464;6907045;7240710;8699517;8554872 11560856;3101769 10194128;10508479;10706130;10849448;10887126;10887132;11069024;11376433;11746971;11780146;11790798;12023981;12096337;12114534;12115002;12144533;12145699;12370803;12393433;12408765;12477932;12522270;12543778;12556557;12560071;12586822;12592324;12734675;12764153;12781448;12808105;12821944;12890867;1317490;1383690;14534537;14581377;14654084;14656881;14702039;14725908;14961028;14966468;14993251;15123239;15143164;15144186;15145216;15248918;15389825;15481444;15489334;15494376;15542838;15626746;15684424;15716990;15723338;15735728;15857938;15866548;15968309;16045749;16079118;16116902;16169070;16264277;16418324;16442529;16442619;16449534;16469868;16481037;16490599;16494625;16502579;16502580;16543472;1657398;16596225;16598834;16631477;16670264;16723087;16778200;16825666;16849647;16855631;16888785;16912036;16914906;16955467;16966279;16998483;16999686;17018862;1706781;17081983;17090304;17102890;17110338;1712671;17145570;17196995;17303698;17314511;17347407;17349636;17374743;17579186;17597804;1763041;17638851;17638918;17643375;17710227;17762503;17768128;17822820;17928051;17934518;17939855;18070886;18082628;18227349;18246120;18287094;18354488;18385754;18391951;18406870;18406872;18474292;18495245;18503828;18538733;18549649;18603297;18603549;18617057;18676680;1868241;18704194;18784740;18794796;18809762;18827185;18976975;1900918;19020542;1903516;19048492;19056867;19061839;19067742;19135771;19170196;19203346;19240172;19261608;19295548;19369965;19380743;19557636;19571320;19608682;19615732;19619277;19625176;19625707;19652056;19692168;19718053;19724931;19840940;19876398;19911011;19946888;20007699;20010464;20015884;20028985;20038234;20141430;20207846;20304029;20351714;20379614;20442314;20452982;20463552;20520635;20607847;20633771;20675402;20697350;20717963;20739956;21045136;21124777;21139048;21156844;21183952;21203397;21239056;21248063;21266020;21310073;21330459;21489624;21504383;21641753;21674858;21693761;21706016;21762985;21764785;21895409;21900237;21903771;21906983;21908428;2193202;21935931;21960589;21963094;22184410;22230800;22231445;22233112;22327125;22384256;22447844;22471662;22526369;22542470;22587422;22591684;22593461;2263470;22665066;22772060;22782217;22787435;22847163;22889411;22896000;22952844;22957062;23047475;23062104;23062378;23065514;23086624;23124138;23171834;23207522;23223358;23269583;23277196;23287430;23289360;23317202;23396943;23428668;23455922;23458731;23588714;23604228;23716543;23788109;23799845;23894305;23934627;23940119;23950177;23974192;23980151;2407300;24262285;24269846;24456693;24550512;24675360;24779036;24816145;24856998;24903628;2678002;2820585;2825022;2915904;2989692;2989703;3023859;3107980;3118359;3194194;3285291;3422516;3463934;3540951;6281890;6316147;6319012;6584200;7506601;7529874;7534286;7606002;7665185;7724587;7939633;8112292;8195176;8204871;8453102;8502487;8621719;8622703;8756631;8757502;8943292;8955135;8978305;9053848;9071815;9178913;9209414;9211920;9407116;9467953;9535855;9566916;9747873;9788431;9822717;9872323;9874796;9949177 613 A9UF05;H0Y554;P11274 AB209991;AB742170;AB742171;ABBA01055103;ABBA01055104;ABBA01055105;ABBA01055106;AF192533;AF487522;AK122842;AK124310;AK128501;AK303241;AMYH02038123;AMYH02038124;AY533677;AY536245;AY536246;AY536247;AY536248;AY536249;AY536250;BC031568;BC041705;BC053641;BC063619;BC066122;BC071742;BC083493;BQ422888;CH471095;EU216058;EU216059;EU216061;EU216062;EU216063;EU216064;EU216067;EU216069;EU216070;HQ622706;KF457370;KF457372;KF457379;KF457382;L02935;M15025;M17542;M55395;M64437;NG_009244;NM_004327;NM_021574;U07000;X02596;X06418;X14676;X52828;X52829;Y00661 AAA35594;AAA35595;AAB60388;AAB60389;AAB60390;AAF61858;AAH83493;AAL99544;AAN76489;AAS46907;AAS46908;AAS46909;AAS46910;AAS46911;AAS46912;AAS57923;ABX82700;ABX82701;ABX82703;ABX82704;ABX82705;ABX82706;ABX82709;ABX82711;ABX82712;ADU04570;BAE06073;BAG64327;BAM36291;BAM36292;CAA26441;CAA29726;CAA32806;CAA37010;CAA37011;CAA68676;EAW59564;EAW59565;EAW59566;EAW59567;EAW59568;EAW59569;EAW59570;NP_004318;NP_067585;P11274 Hs.517461;Hs.715409 1336560;1676049;1687616;1709268;1722413;1741551;1741553;1742081;1742185;1744391;1784512;2121612;2125985;2134929;2147343;2160552;2165026;5015961;5016596;5017629;5019735;5021596;5022322;5022403;5096226;5106704;5108177;5113551;5117214;5119527;7190681;7190691 A005T29;A009L29;BCR;D11S2560;D15S1477;D22S1027;D22S1100E;D22S257;G20484;G32654;G60279;GDB:177065;GDB:181503;GDB:181505;GDB:190907;GDB:193184;GDB:315173;GDB:451800;GDB:452640;GDB:631802;RH11197;RH27788;RH66855;RH70541;RH80432;SHGC-170331;SHGC-30277;SHGC-85827;SHGC-9196;STS-H69004 ALL;BCR1;CML;D22S11;D22S662;FLJ16453;PHL BCR/FGFR1 chimera protein;FGFR1/BCR chimera protein;OTTHUMP00000028949;OTTHUMP00000067895;breakpoint cluster region protein;renal carcinoma antigen NY-REN-26 APPROVED protein-coding ENSG00000186716 HGNC:1014 01044 151410;608232;613065 REVIEWED 1352984 BCYRN1P1 brain cytoplasmic RNA 1, pseudogene 1 X X X q27.1 139170224 139170420 + 138802738 138802934 + 139720579 139720775 + 7684772;8265590 619 ABBA01066060;AL161777;AMYH02040614;NG_003040;U01307 BC200b pseudo HGNC:1023 INFERRED 1343553 BCYRN1P2 brain cytoplasmic RNA 1, pseudogene 2 1 q42 195047583 195047763 + 7684772;8265590 620 AADB02001168;ABBA01048064;NG_001085;U01308 BC200g pseudo HGNC:1024 INFERRED 1349102 BCYRN1 brain cytoplasmic RNA 1 This gene, which encodes a neural small non-messenger RNA, is a member of the family of interspersed repetitive DNA, and its product represents an example of a primate tissue-specific RNA polymerase III transcript. The RNA sequence is divided into three domains: a 5' portion homologous to the Alu Lm, a central adenosine-rich region, and the terminal 43-nt nonrepetitive domain. It is believed that this gene was retropositionally generated and recruited into a function regulating dendritic protein biosynthesis. At least two pseudogenes of this gene have been identified. [provided by RefSeq, Jul 2008] 2 2 2 p21 47401236 47401434 + 47562454 47562653 + 47335315 47335514 + 6480464;8554872 11399078;15240511;16054886;17553964;24244371;7684772;8265590;9858834 618 ABBA01075156;AC079775;AF020057;AMYH02003753;NR_001568 BC200;BC200a;LINC00004;NCRNA00004 APPROVED ncrna HGNC:1022 606089 REVIEWED 1342712 BDK bradykinin ASSOCIATED WITH BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY (inferred) 7240710 589 HGNC:1028 614923 1351481 BDH2P1 3-hydroxybutyrate dehydrogenase, type 2 pseudogene 1 6 6 6 q16.2 100266678 100269574 + 99622547 99625446 + 99174671 99177570 + 389416 ABBA01014489;AL591803;AMYH02014181;NG_005299 1676826;1677488 RH94279;SHGC-67353 DHRS6P1;bA758C21.1 dehydrogenase/reductase (sdr family) member 6 pseudogene 1 pseudo HGNC:21476 INFERRED 4144531 BCRP8 breakpoint cluster region pseudogene 8 22 22 22 q11.23 7336577 7337546 - 23522110 23522359 - 23179923 23180172 - 1317490;1763041;1868241;2193202;2678002;2915904;3023859;3107980;3194194;3463934;6281890;6316147;6319012;7063411;7506601;7665185;8453102 100133044 ABBA01055103;AMYH02038123;NG_032057;U07000 1742185;1744391;5017629 BCR;GDB:193184;GDB:452640 pseudo HGNC:39076 INFERRED 1354326 BDMR brachydactyly-mental retardation syndrome ASSOCIATED WITH BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (inferred) 7240710 7847374 626 HGNC:1032 600430 730874 BDKRB1 bradykinin receptor B1 Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 14 14 14 q32.1-q32.2 76778278 76786817 + 96721641 96735304 + 96256210 96264763 + 704381;704378;1580863;704379;704380;1625733;1625732;628496;1579989;2313334;5129217;5129229;5129222;4890450;5129227;5129214;5129218;5129220;6480464;6907045;7241550;7241551;7241554;7241559;7241560;7241561;7175321;7241569;7241570;1625040;7241581;7241582;7401225;7401223;8554872 10604543;10809796;11853231;12025958;12165532;12411434;12489796;12522068;12637034;12746865;12927641;15576455;15643125;15734727;15878326;16177542;17184856;17618300;17852785;17988733;18182225;18311190;18725957;18809736;20092893;20448019;20451601;20479236;20587056;21412216;9555662 10188626;10329474;10422787;11025765;11278902;11710536;11880373;12025967;12063092;12130679;12450400;12477932;12481150;14499231;15033977;15489334;15492119;15520046;15634338;15681300;15705059;15805101;15837330;15840906;15883268;16644486;16712791;16754659;17110500;17128974;17303584;17327486;17328065;17878384;18039523;18039525;18187413;18240029;18467203;18577758;18577888;18938142;19038786;19082699;19086053;19120546;19184415;19404481;19546528;19641039;19661485;19725054;19796797;19885862;19913121;20152050;20189583;20628086;21052031;21147512;21216565;21454694;21871009;21986309;22088753;22092568;22468084;22706224;22971439;23201435;23224295;23351078;23428345;24108126;24475248;7495867;8063797;8651911;8660997;8808279;8995263;9930991 623 G3V4Y2;P46663 AB065896;ABBA01048595;AF117819;AJ238044;AK291970;AK309528;AL355102;AMYH02029802;AX646477;AY275464;BC034705;CB130642;CH471061;KJ950627;KJ950628;L42383;NM_000710;U12512;U22346;U30271;U48231;W49512 AAA21346;AAB60693;AAC50594;AAD14824;AAD17233;AAH34705;AAP32296;ABM82202;ABM85390;AIC76569;AIC76570;BAC06112;BAF84659;CAB45650;CAD69366;EAW81632;NP_000701;P46663 Hs.525572 1654251;2220336 BDKRB1;RH17999 B1BKR;B1R;BDKRB2;BKB1R;BKR1;BRADYB1 B1 bradykinin receptor;BK-1 receptor;OTTHUMP00000245974;bradykinin B1 receptor;bradykinin receptor 1;bradykinin receptor B2 APPROVED protein-coding HGNC:1029 02639 600337 REVIEWED 1348244 BDM behavior disorder modifier 625 HGNC:1031 5130619 BCYRN1P3 brain cytoplasmic RNA 1, pseudogene 3 13 13 13 q11 355128 355321 - 19283849 19284042 - 18709709 18709902 - 8265590 654337 ABBA01068527;AC245149;AL391382;NG_005375 pseudo HGNC:39833 INFERRED 737386 BDKRB2 bradykinin receptor B2 This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. [provided by RefSeq, Jul 2008] 14 14 14 q32.1-q32.2 76726862 76766386 + 96671016 96710666 + 96204798 96244329 + 1331525;1580863;704378;704379;2313334;2313332;2313335;4890456;4890451;4891041;4891031;4891040;4891042;4891055;4890452;4890450;4890453;4890457;4891024;4891039;4890454;4891044;4891028;4891033;4891026;4891030;4891032;4891034;4891025;4891027;4890455;4891029;4891047;5129227;6480464;6907045;7401225;7401223 10188975;10385260;10702448;10904024;11149999;11517947;11699055;11934804;12025958;12489796;12522467;14727005;15021973;15118671;15316088;15734727;15878794;16138314;16177542;16600946;17596525;17852785;18182225;18311190;1890650;19038786;19300402;19744011;19950773;20080302;21052031;7791078;8856156;9039147;9208140 10085087;10188626;10469138;10510297;10653985;10681501;10748135;10993080;11324803;11409654;11446495;11517230;11710536;11747451;11908480;11954665;12025967;12039525;12063092;12107246;12130679;12177051;12450400;12477932;12481150;12489797;12640257;12705334;12851878;1314587;1329734;14499231;14607851;15033977;15112434;15114524;15117835;15161928;15281091;15301669;15489334;15634338;15643125;15643126;15654972;15664511;15664665;15771553;15805101;15894833;16144969;16263113;16294326;16344560;16461337;16489763;16740128;16754659;16950802;17030791;17077303;17110500;17207964;17299793;17303584;17327486;17328065;17363739;17420253;17522594;17569300;17593394;18039523;18096516;18180402;18187413;18240029;18258629;18430865;18467203;18577888;18672896;18810490;18927465;18938142;19017652;19074839;19082699;19086053;19110485;19120546;19339996;19404481;19420105;19456859;19565561;19578796;19580784;19628666;19716087;19725054;19854233;19885862;19913121;20036225;20044476;20045189;20050188;20189583;20201926;20300066;20473401;20511677;20592051;20602751;20628086;20856803;20944660;20952631;21108627;21145390;21210858;21451024;21586566;21600887;21602894;21626144;21719759;21871009;21986469;22016392;22047990;22108573;22304584;22468762;22653778;22706224;22706620;22900090;22935637;23093849;23127247;23132855;23176367;23224295;23243416;23275384;23351078;23362199;23428345;23454239;23588115;23613132;23730990;23805043;23824909;24047499;24211782;24236827;2834384;7779089;7779090;7835885;7916737;8063797;8302267;8394991;8652530;8777990;8900488 624 P30411;Q6LAU9 ABBA01048595;AF378542;AI095360;AK299316;AK311049;AL355102;AMYH02029802;AY275465;BC074894;BC074895;CH471061;CR749338;DA096163;DC422332;L27594;M88714;NM_000623;S45489;S56772;X69680;X86162;X86164;X86165;X86172;X86173 AAB02793;AAB23467;AAB25765;AAH74894;AAH74895;AAK56376;AAP32297;BAG61326;CAA49360;CAA60108;CAA60109;CAH18192;EAW81629;NP_000614;P30411 Hs.654542;Hs.726620 1792434;2150654 PMC150944P1;RH70880 B2R;BK-2;BK2;BKR2;BRB2;DKFZp686O088 B2 bradykinin receptor;BK-2 receptor;OTTHUMP00000245971 APPROVED protein-coding ENSG00000168398 HGNC:1030 00213 113503 REVIEWED 737289 BDH1 3-hydroxybutyrate dehydrogenase, type 1 This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 3 3 3 q29 195829052 195891752 - 197236654 197300194 - 197509783 197573323 - 1580863;2326093;2326100;4105460;6480464;6484113;6907045 15877199;3422549;3548709 10933785;11009606;11752456;12477932;15489334;1639787;17207965;18029348;19027726;20877624;21791085;21832049;23752268;7686368;8615695;8679568;8889549 622 C9JB83;C9JEB9;C9JM78;C9JQ90;C9K0G7;E9PCG9;H7C2W1;Q02338 ABBA01033769;ABBA01033770;ABBA01033771;ABBA01033772;AC128709;AC132008;AK126701;AMYH02008518;AMYH02008519;AV645953;BC005844;BC011964;BC019317;BC021183;BE782251;BI601294;BQ897235;CH471191;EF095211;H80183;M93107;NM_004051;NM_203314;NM_203315;XM_005269352;XM_005269355 AAA58352;AAH05844;AAH11964;AAH19317;ABL01515;ADQ32361;EAW53606;EAW53607;EAW53608;EAW53609;NP_004042;NP_976059;NP_976060;Q02338;XP_005269409;XP_005269412 Hs.274539 1646551;1653945;1664103;1671414;2140547;2160565;5037552 D3S4168;D8S2279;RH12227;SGC33667;SHGC-77706;STS-H66146;WI-16787 BDH;MGC2723;MGC4347;MGC9788;SDR9C1 (R)-3-hydroxybutyrate dehydrogenase;3-hydroxybutyrate dehydrogenase (heart, mitochondrial);D-beta-hydroxybutyrate dehydrogenase, mitochondrial;OTTHUMP00000208056;OTTHUMP00000208057;OTTHUMP00000208058;OTTHUMP00000208059;OTTHUMP00000208060;short chain dehydrogenase/reductase family 9C, member 1 APPROVED protein-coding ENSG00000161267 HGNC:1027 04344 603063 REVIEWED 1604606 BDH2 3-hydroxybutyrate dehydrogenase, type 2 ENCODES a protein that exhibits 3-hydroxybutyrate dehydrogenase activity; NAD binding; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (ortholog); INVOLVED IN epithelial cell differentiation; fatty acid beta-oxidation; heme metabolic process (ortholog); PARTICIPATES IN butanoate metabolic pathway; ketone bodies metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 4 4 4 q24 101295921 101318163 - 103998770 104021024 - 103077613 103099867 - 6480464;6907045;8554872 10931946;12477932;12975309;14702039;15489334;16380372;17893145;19027726;19056867;20332099;21139048;21791085;21890473;21906983;22053931;22527885;23000965;23941109;24816145 56898 D6R9U8;D6RBF6;D6RFG2;D6RIR6;Q9BUT1 ABBA01063707;AC097485;AF164790;AK023323;AK128463;AK290160;AK291335;AK300626;AMYH02009821;AW136198;AX179297;AY358841;BC001953;BC037277;BC095414;BI544872;CH471057;CR457309;HB929452;HB945850;HB959532;HC986861;HD003260;HD016942;NM_020139;XM_005263140;XM_006714274 AAF80754;AAH01953;AAH37277;AAH95414;AAQ89200;BAB14526;BAF82849;BAF84024;BAG54681;BAG62318;CAC43884;CAG33590;CBF99640;CBG07667;CBG14351;CBV13160;CBV21189;CBV27865;EAX06163;EAX06164;EAX06165;EAX06166;EAX06167;EAX06168;NP_064524;Q9BUT1;XP_005263197;XP_006714337 Hs.124696 1676826;1677060;1677488;1713811;2160181 RH120792;RH91916;RH94279;SHGC-67353;STS-N58734 DHRS6;EFA6R;FLJ13261;PRO20933;SDR15C1;UCPA-OR;UNQ6308 3-hydroxybutyrate dehydrogenase type 2;OTTHUMP00000082657;R-beta-hydroxybutyrate dehydrogenase;dehydrogenase/reductase (SDR family) member 6;dehydrogenase/reductase SDR family member 6;oxidoreductase UCPA;short chain dehydrogenase/reductase family 15C, member 1 protein-coding HGNC:32389 07103 VALIDATED 2289748 BDP1P B double prime 1 pseudogene 18 18 18 q23 71963251 71968444 - 75144013 75149205 - 77432057 77437249 - 724038 ABBA01015295;AC124254;AMYH02035030;NG_005602 1681686;2128853 NIB1337;RH68238 pseudo HGNC:31044 INFERRED 1318324 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008] 5 5 5 q13 66647216 66759382 + 70751442 70863649 + 71455615 71567822 + 1580863;6480464;8554872 10574462;11040218;11161782;11214970;12477932;14527415;14592981;15096501;15342556;15469824;16542149;17499043;18391023;20379614;23251661;24312468;9169441;9171375 55814 A6H8Y1;H0YCV8;H7C5U4 AB033067;AB051476;ABBA01061892;ABBA01061893;ABBA01061894;ABBA01061895;AC138832;AC245931;AF176695;AF298151;AF298152;AI537645;AJ238520;AJ278892;AJ279120;AJ279144;AJ279145;AJ279146;AJ279147;AJ279148;AJ279149;AJ279150;AK057871;AMYH02011545;AMYH02011546;AMYH02011547;AMYH02011548;BC032146;BC146792;BC161615;BP246483;BP347992;BX641011;CH471084;CR749229;CR749289;NM_018429;XM_005276771;XM_006714658;XM_006714659;XM_006725460;XM_006725461;XM_006726216;XR_241785;XR_254199;XR_430843 A6H8Y1;AAG09268;AAG30220;AAG30221;AAH32146;AAI46793;AAI61615;BAA86555;BAB21780;BAB71602;CAC04245;CAC17771;CAC21448;CAE46010;CAH18085;CAH18144;EAW95688;EAW95689;NP_060899;XP_005276828;XP_006714721;XP_006714722;XP_006725523;XP_006725524;XP_006726279 Hs.258272 1647660;1681686;1749721;1755363;1755587;1785736;2128853;2217068 BDP1_3608;NIB1337;RH66386;RH68238;SHGC-111398;SHGC-142246;SHGC-142442;SHGC-81262 DKFZp686C01233;DKFZp686K0831;HSA238520;KIAA1241;KIAA1689;TAF3B1;TFC5;TFIIIB'';TFIIIB150;TFIIIB90;TFNR OTTHUMP00000222182;OTTHUMP00000222187;OTTHUMP00000224505;RNA polymerase III transcription initiation factor B'';TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1;transcription factor IIIB 150;transcription factor TFIIIB component B'' homolog;transcription factor-like nuclear regulator APPROVED protein-coding ENSG00000145734 HGNC:13652 06114 607012 REVIEWED 9587192 BECN1P2 beclin 1, autophagy related, pseudogene 2 6 6 6 72173584 72174638 + 71784964 71786018 + 71075261 71076315 + 100420149 ABBA01040277;AL096709;AMYH02013880;NG_025950 pseudo HGNC:51330 INFERRED 1344282 BDNF-AS BDNF antisense RNA ASSOCIATED WITH Bulimia Nervosa (inferred); Congenital central hypoventilation syndrome (inferred); Lung Neoplasms (inferred); INTERACTS WITH (+)-catechin 11 11 11 p14.1 27674107 27865830 + 27528384 27719718 + 27506852 27698171 + 8554872 15666411;17629449;19079260;20418890;21708048;22446693 497258 ABBA01060968;ABBA01060969;ABBA01060970;AC087750;AC100771;AC104563;AJ011597;AMYH02024504;AMYH02024505;AY054391;AY054401;AY054402;AY054403;AY054404;AY054405;AY513486;EF689022;EF689023;EF689024;EF689025;EF689026;EF689027;EF689028;EF689029;EF689030;EF689031;EF689032;EF689033;EF689034;EF689035;EF689036;EF689037;EF689038;EF689039;EF689040;EF689041;EF689042;HG503621;HG503622;HG503623;HG503624;HG503625;HG503626;HG503627;KF455345;KF455346;KF459669;NR_002832;NR_033312;NR_033313;NR_033314;NR_033315 Hs.675323 1342139;1725223;1732161;1737071;1742497;1770238;1774978;1790321;1797316;2122427;2144667;5108883 AFMB358ZC5;BDNF;BDNF-1;BDNF_2411;D11S1149;D11S1446;D11S1570;D11S2825;D11S4152;D11S4429;GDB:197571;RH118904 ANTI-BDNF;BDNF;BDNF-AS1;BDNFOS;BT2A;BT2B;BT2C;BT2D;NCRNA00049 APPROVED ncrna ENSG00000245573 HGNC:20608 611468 VALIDATED 4144982 BEAN1 brain expressed, associated with NEDD4, 1 The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 16 16 16 q21 50966717 51023308 + 66461200 66527432 + 66427297 66494193 + 6480464;8699517;8554872 11042109;12477932;14702039;19878914;19953087;20301317;20723845;21163552;21921537;22049201;23607545;23824909;8619474;8889548;9110174 146227 H3BRW1;J3KRN6;Q3B7T3 AB472390;AB472391;AB472392;AB472393;AB472394;AB472395;AB472396;AB472398;AB472399;ABBA01025406;ABBA01025407;ABBA01025408;AC010542;AC132186;AF070610;AK056142;AMYH02032204;AMYH02032205;AMYH02032206;BC000818;BC105723;BC105724;BC107477;BM666201;CH471092;NG_021403;NM_001136106;NM_001178020;NM_001197224;NM_001197225;XM_006721144 AAI07478;BAG51632;EAW83011;NP_001129578;NP_001171491;NP_001184153;NP_001184154;Q3B7T3;XP_006721207 Hs.740218;Hs.740219;Hs.97805 1686462;1738493;2142447 D16S2688;RH92071;SHGC-60691 BEAN;SCA31 brain-expressed protein associating with Nedd4 homolog APPROVED protein-coding ENSG00000166546 HGNC:24160 612051 REVIEWED 8694973 BEAN1-AS1 BEAN1 antisense RNA 1 16 16 q21 66503721 66512013 - 66469796 66476402 - 16344560 101927726 ABBA01025406;ABBA01025407;AC132186;AMYH02032205;AMYH02032206;DA850942;DA859002;DA862085;HG508183;HG508184;NR_109960 Hs.739193 CTD-2258A20.5 ncrna ENSG00000261656 HGNC:51114 VALIDATED 7206952 BEND3P1 BEN domain containing 3 pseudogene 1 10 10 10 q11.23 75573670 75579506 + 52417863 52423706 + 50658103 50663946 + 644459 ABBA01052480;AL589794;AMYH02023055;NG_011921 pseudo HGNC:45014 INFERRED 731027 BDNF brain-derived neurotrophic factor The protein encoded by this gene is a member of the nerve growth factor family. It is induced by cortical neurons, and is necessary for survival of striatal neurons in the brain. Expression of this gene is reduced in both Alzheimer's and Huntington disease patients. This gene may play a role in the regulation of stress response and in the biology of mood disorders. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jan 2009] 11 11 11 p13 27822548 27889725 - 27676440 27743605 - 27654893 27722058 - 631710;1331525;734643;734644;1580863;1300048;4891135;4891140;4891064;4891067;4891069;4891117;4891121;4891138;4891066;4891113;4891125;4891111;4891131;4891112;4891116;4891122;4891123;4891136;4891137;4891119;4891139;4891110;4891127;4891134;4891063;4891129;4891132;5144117;5508228;5684920;5684910;5684922;5684912;5684915;6480464;5684923;6907045;7240710;8655576;8655584;8655588;8655552;8655556;8655575;8655554;8655559;8655535;8632994;8655586;8655551;8636263;8639313;8655536;8655560;8655574;8554872;8655978;8655652;8655657;8655861;8655601;8655967;8657100;8657114;8657091;8657093;8699517;8655627;8655637;8657025;8657027;8657067;8657069;8655850;8657066;8657081;8655886;8657101;8657088;8657331;8655604;8655857;8655860;8657022;8657019;8655612;8655893;8657122;8657332;8655608;8655887;8657065;8657090;8657102;8657099;8657329;8657028;5144060;8655629;8655632;8657071 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627 E9PMP3;P23560;Q6YNR1 AB038670;AB038671;AB038672;AB038673;AB038674;ABBA01060968;AC103796;AC104563;AF400438;AF411339;AK289763;AK289853;AMYH02024505;AMYH02024506;AY011481;AY054392;AY054393;AY054394;AY054395;AY054396;AY054397;AY054398;AY054399;AY054400;AY054406;AY442188;AY656701;BC029795;CH471064;CX751420;DQ250642;EF674517;EF674518;EF674519;EF674520;EF674521;EF689009;EF689010;EF689011;EF689012;EF689013;EF689014;EF689015;EF689016;EF689017;EF689018;EF689019;EF689020;EF689021;KC855559;KF455346;KF459669;M37762;M61176;M61181;NG_011794;NM_001143805;NM_001143806;NM_001143807;NM_001143808;NM_001143809;NM_001143810;NM_001143811;NM_001143812;NM_001143813;NM_001143814;NM_001143816;NM_001709;NM_170731;NM_170732;NM_170733;NM_170734;NM_170735;X60201;X60202;X91251 AAA51820;AAA69805;AAA96140;AAG47514;AAH29795;AAK92487;AAL23557;AAL23558;AAL23559;AAL23560;AAL23561;AAL23562;AAL23563;AAL23564;AAL23565;AAL23571;AAO15434;AAR14686;AAT74399;ABB51155;ABM81737;ABM84892;ABS29021;ABS29022;ABS29023;ABS29024;ABS29025;ABS32249;ABS32250;ABS32251;ABS32252;ABS32253;ABS32254;ABS32255;ABS32256;ABS32257;ABS32258;ABS32259;ABS32260;ABS32261;AGR50950;BAB55545;BAB55546;BAB55547;BAB55548;BAB55549;BAF82452;BAF82542;CAA42761;CAA62632;EAW68274;EAW68275;EAW68276;EAW68277;EAW68278;EAW68279;NP_001137277;NP_001137278;NP_001137279;NP_001137280;NP_001137281;NP_001137282;NP_001137283;NP_001137284;NP_001137285;NP_001137286;NP_001137288;NP_001700;NP_733927;NP_733928;NP_733929;NP_733930;NP_733931;P23560 Hs.502182 1336800;1731571;1737071;1742497;1774978;1790321;1797316;2144667 BDNF;BDNF-1;BDNF_2411;D11S1270;D11S2825;D11S4115;D11S4429;GDB:197571 ANON2;BULN2;MGC34632 OTTHUMP00000232005;OTTHUMP00000232006;OTTHUMP00000232013;OTTHUMP00000232014;OTTHUMP00000232015;OTTHUMP00000232016;OTTHUMP00000232018;OTTHUMP00000232019;OTTHUMP00000232020;OTTHUMP00000232021;OTTHUMP00000232022;OTTHUMP00000232039;OTTHUMP00000232040;OTTHUMP00000232041;OTTHUMP00000232043;abrineurin;neurotrophin APPROVED protein-coding ENSG00000176697 HGNC:1033 00214 113505;164230;209880;607499;610269 REVIEWED 733440 BECN1 beclin 1, autophagy related Beclin-1 participates in the regulation of autophagy and has an important role in development, tumorigenesis, and neurodegeneration (Zhong et al., 2009 [PubMed 19270693]).[supplied by OMIM, Jul 2010] 17 17 17 q21 37618135 37632364 - 40962150 40976310 - 42810132 42824292 - 634559;1580863;1643194;1643198;1643329;4889529;6480464;6483317;6483074;6483077;6483070;6483094;6483068;6483098;6483072;6483316;6483066;6483048;6483100;6483050;6483046;6483314;6483081;6483101;6483057;6483076;6483096;6483102;6483312;6483313;6483069;6483054;6907045;6483315 15325588;16004578;16697404;16874043;17665967;17936001;18497889;18500386;19138675;19574998;19864570;20034776;20187128;20539009;20823696;20838925;20863706;21270095;21478185;21490676;21592995;21806471;21866636;21926933;22001349;22227058;22306244;22449108;22476098;22521819;9765397 10395800;10604474;11306555;11309306;11564866;12372286;12477932;14966907;14970205;15489334;15922724;16267277;16390869;16417406;16522639;16713569;16718815;16857678;16874027;17203225;17236580;17272502;17337444;17355787;17438366;17441324;17441338;17446862;17550384;17589504;17595761;17643073;17659302;17786023;17999086;18005679;18184403;18184459;18497881;18552835;18628207;18641390;18769161;18797192;18829541;18843052;19050071;19060920;19066461;19130303;19145109;19180116;19218137;19270693;19270696;19289499;19298526;19298604;19318089;19325567;19347031;19372752;19375507;19395874;19520853;19535901;19535919;19556884;19635843;19641499;19680556;19713971;19762066;19778902;19798108;19921231;20004946;20009549;20010695;20023428;20037818;20090905;20150769;20190558;20206246;20207475;20230646;20368806;20454448;20473282;20501938;20559548;20562859;20638385;20639699;20643123;20697744;20711182;20842118;20889974;20921139;20937944;21081164;21203962;21209283;21239722;21241894;21327823;21353614;21358617;21420796;21444671;21499230;21537144;21543763;21556768;21610315;21646862;21654208;21681342;21711108;21722286;21729531;21750416;21769915;21777947;21779982;21861179;21873141;21875280;21890473;21906983;21936852;21962518;21971985;21976705;22039439;22081109;22095667;22147978;22157765;22174682;22219388;22240664;22242123;22248718;22286270;22301112;22310240;22314358;22335943;22392728;22393062;22493499;22498477;22622204;22627130;22648564;22650021;22674982;22733132;22742832;22797916;22805532;22875631;22933281;23029344;23089287;23112296;23125008;23184933;23197835;23216071;23225331;23264393;23316280;23334926;23337876;23420005;23429496;23444126;23478334;23479509;23504944;23525201;23564079;23569248;23573264;23686476;23703612;23722017;23737459;23787295;23790316;23801739;23812859;23827971;23877263;23878393;23880165;23935917;23943370;23974797;24012002;24034250;24056301;24132590;24141421;24145555;24186333;24186908;24260370;24303007;24324106;24324270;24345332;24378767;24440703;24528868;24681041;24760274;24879156;24941712;24980959;24980960;7490091;7829101;8125298 8678 E7EV84;K7EKK2;K7EL88;K7ELY9;K7EMA2;K7EN35;K7EQQ7;K7ER46;K7ERY0;K7ES83;Q14457;W0FFG4 ABBA01006406;ABBA01006407;AC016889;AF077301;AF139131;AK223411;AK298619;AK299616;AK312651;AMYH02033440;AMYH02033441;BC010276;BI496049;BX647788;CH471152;DC296896;KC776730;KF511232;L38932;NM_003766;XM_005257758;XM_005257759;XM_005257760 AAB59573;AAC68653;AAD27650;AAH10276;ABM82559;ABM85749;AHF22836;BAD97131;BAG35534;BAG60798;BAG61544;EAW60888;EAW60889;EAW60890;NP_003757;Q14457;XP_005257815;XP_005257816;XP_005257817 Hs.716464 1654805;1659134;2122816;2122818;2145305;2162511;2185825 A005R43;G20453;RH17649;RH48446;RH48640;STS-U17909;WI-11793 ATG6;VPS30;beclin1 ATG6 autophagy related 6 homolog;beclin 1 (coiled-coil, moesin-like BCL2 interacting protein);beclin 1 (coiled-coil, moesin-like BCL2-interacting protein);beclin 1 (coiled-coil, myosin-like bcl2-interacting protein);beclin-1;coiled-coil myosin-like BCL2-interacting protein APPROVED protein-coding ENSG00000126581 HGNC:1034 05087 604378 VALIDATED 4106408 BECN1P1 beclin 1, autophagy related, pseudogene 1 INVOLVED IN autophagy; endosome to lysosome transport; G-protein coupled receptor catabolic process; FOUND IN cytoplasm (inferred) 1 1 1 q43 215376527 215377822 + 242121069 242122364 + 241957767 241959062 + 16710414;23954414 441925 A8MW95 ABBA01033262;AMYH02003041;BX571673;HM031116;NM_001290693 A8MW95;ADM47406;NP_001277622 Hs.731347 1779926 SHGC-154177 BECN1L1;BECN2 Beclin-1-like protein 1;beclin-2 protein-coding HGNC:38606 615687 VALIDATED 731845 BEGAIN brain-enriched guanylate kinase-associated ENCODES a protein that exhibits kinase activity (inferred); INVOLVED IN phosphorylation (inferred); FOUND IN cytoplasm (inferred); dendrite (inferred); membrane (inferred); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; thapsigargin 14 14 14 q32.2 81058597 81067990 - 101003484 101036131 - 100537147 100569794 - 6480464 10819331;12097487;12477932;15489334;16189514;16713569;16964243;17081983;18029348;20360068;21102462;21832049;21906983;21988832;9756850 57596 G3V2K4;G3V3A2;G3V3R5;G3V3S3;G3V536;G3V600;Q9BUH8 AB040879;ABBA01048525;ABBA01048526;AL390162;AL845552;AMYH02029857;BC002607;BG333264;CH471061;NM_001159531;NM_020836;XM_005267919;XM_005267920;XM_005267921;XM_006720221 AAH02607;ACE87027;ACE87713;BAA95970;CAB99094;EAW81707;EAW81708;NP_001153003;NP_065887;Q9BUH8;XP_005267976;XP_005267977;XP_005267978;XP_006720284 Hs.211751 1666246 STS-AA021302 KIAA1446 OTTHUMP00000246549;OTTHUMP00000246550;OTTHUMP00000246551;OTTHUMP00000246552;OTTHUMP00000246553;OTTHUMP00000246554;OTTHUMP00000246555;brain-enriched guanylate kinase-associated homolog;brain-enriched guanylate kinase-associated protein APPROVED protein-coding ENSG00000183092 HGNC:24163 06459 VALIDATED 1350095 BEND2 BEN domain containing 2 This gene encodes a protein which has two BEN domains in the C-terminus. These domains are found in proteins which participate in protein and DNA interactions which occur during chromatin restructuring or transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] X X X p22.13 22300374 22358874 - 18181051 18239024 - 18162931 18220904 - 737633;8554872 12477932 15489334;15772651;16713569;19455595;21832049 139105 B3KXX8;Q8NDZ0 ABBA01071613;ABBA01071614;ABBA01071615;AK128155;AL096763;AMYH02038944;AMYH02038945;BC037301;BC096745;BX952865;CH471074;NG_021323;NM_001184767;NM_153346;XM_006724462;Z92547 AAH37301;AAH96745;ABM83396;ABM86609;BAG54640;EAW98936;NP_001171696;NP_699177;Q8NDZ0;XP_006724525 Hs.403802 CXorf20;MGC33653 BEN domain-containing protein 2;OTTHUMP00000022999 APPROVED protein-coding ENSG00000177324 HGNC:28509 06646 VALIDATED 7206870 BEND3P2 BEN domain containing 3 pseudogene 2 9 9 9 q22.31 65369809 65372072 + 94933513 94935776 + 92171231 92173494 + 392368 ABBA01018582;AL136097;AMYH02021218;NG_011923 pseudo HGNC:45015 INFERRED 7206903 BEND3P3 BEN domain containing 3 pseudogene 3 10 10 10 q22.3 74728116 74732168 + 81442731 81448653 + 79682975 79688897 + 16344560 650623 ABBA01020204;AC068139;AL132656;AL603703;AMYH02023404;BX248123;DA227741;DN994631;NR_027512 Hs.730022 1698412 RH102748 pseudo HGNC:45016 PROVISIONAL 1347685 BEND3 BEN domain containing 3 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; ethyl methanesulfonate; methyl methanesulfonate 6 6 6 q21 108134718 108184092 - 107386385 107436371 - 107065181 107115167 - 6480464;8554872 10997877;12477932;17000644;19471022;19615732;21252943;21549307;21693764;21914818;21963094;22242598;22586326;22990118;23455922;23752268;24654937;25027693 57673 Q5T5X7 AB046773;ABBA01026181;ABBA01026182;AK026996;AL355586;AMYH02014249;AMYH02014250;AMYH02014251;BC131628;CH471051;NM_001080450;XM_005267079;XM_005267080;XM_006715532;XM_006715533 AAI31629;BAB13379;EAW48401;NP_001073919;Q5T5X7;XP_005267136;XP_005267137;XP_006715595;XP_006715596 Hs.418045 1678499;1744345;1770682;1770684;5038476 A005Y28;D3S3992;G20599;GDB:451760;RH27230 KIAA1553;RP11-59I9.2 BEN domain-containing protein 3;OTTHUMP00000016928 protein-coding ENSG00000178409 HGNC:23040 VALIDATED 1605502 BEND4 BEN domain containing 4 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); copper atom 4 4 4 p13 42560029 42602526 - 42112870 42154895 - 42110853 42152878 - 6480464;8554872 12477932;14702039 389206 Q6ZU67 AA757195;AB126828;AB126829;ABBA01014283;ABBA01014284;ABBA01014285;AC111006;AK092951;AK125953;AMYH02009105;BC128592;BC128593;CH471069;NM_001159547;NM_207406 AAI28593;AAI28594;AAI46594;AAI48434;BAC86359;BAD93191;BAD93192;EAW93001;NP_001153019;NP_997289;Q6ZU67 Hs.120591 1717233 RH122031 CCDC4;FLJ35632;FLJ43965;MGC157807;MGC157808 BEN domain-containing protein 4;OTTHUMP00000218402;OTTHUMP00000218403;OTTHUMP00000218405;OTTHUMP00000218406;coiled-coil domain containing 4;coiled-coil domain-containing protein 4 protein-coding ENSG00000188848 HGNC:23815 13481 VALIDATED 1314203 BEND7 BEN domain containing 7 FOUND IN extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; cyclosporin A 10 10 10 p13 13407599 13472089 - 13480484 13570587 - 13438484 13528585 - 6480464 12477932;14702039;15164054;15489334;16189514;16385451;19056867;19060904;23382691 222389 Q8N7W2 ABBA01034626;AK097602;AL359172;AL590677;AL832195;AMYH02022179;BC029597;BC031618;CH471072;NM_001100912;NM_152751;XM_005252402;XM_006717401;XM_006717402;XM_006717403;XM_006717404;XM_006717405;XM_006717406;XM_006717407;XM_006717408;XM_006717409;XM_006717410;XM_006717411;XM_006717412;XM_006717413;XM_006717414;XM_006717415;XM_006717416;XM_006717417;XM_006717418;XM_006717419;XM_006717420;XM_006717421;XM_006717422;XR_428634;XR_428635 AAH31618;BAC05114;EAW86285;EAW86286;EAW86287;EAW86288;NP_001094382;NP_689964;Q8N7W2;XP_005252459;XP_006717464;XP_006717465;XP_006717466;XP_006717467;XP_006717468;XP_006717469;XP_006717470;XP_006717471;XP_006717472;XP_006717473;XP_006717474;XP_006717475;XP_006717476;XP_006717477;XP_006717478;XP_006717479;XP_006717480;XP_006717481;XP_006717482;XP_006717483;XP_006717484;XP_006717485 Hs.498740 1666193;1668484;1704776;1704850;1755919;1763229;5014051;5015619;5022200 D11S3114;D8S2278;L18426;RH47609;SHGC-142750;SHGC-146959;SHGC-79854;SHGC-79899;STS-W15426 C10orf30;FLJ40283;MGC35247 BEN domain-containing protein 7;OTTHUMP00000019143;OTTHUMP00000019144 protein-coding ENSG00000165626 HGNC:23514 12570 VALIDATED 1323228 BEST1 bestrophin 1 This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008] 11 11 11 q13 59052654 59067236 + 61717356 61731935 + 61949884 61964463 + 1599738;1580863;6480464;7240710;8547535;8554872;8699517 23701314;9662395 10331951;10394929;10453731;10682987;10737974;10766140;10798642;10854112;11050159;11241846;11271465;11449320;11904445;11913792;12032738;12058047;12107410;12187431;12324875;12477932;12907679;1302019;13129869;1395087;14982938;15176385;15452077;15489334;15556645;15808248;16612637;16707793;16754206;16769844;16885924;17003041;17065513;17110374;17287362;17361457;17468957;17591911;17646752;17698758;18179881;18222922;18400985;18414923;18611979;18766995;18849347;19029375;19237432;19262692;19357557;19372599;19375515;19398034;19597114;19635817;19823864;19853238;20057343;20057903;20238019;20301346;20301590;20349192;20375334;20381869;20530484;20801516;21072067;21077756;21109774;21192766;21203346;21269699;21273940;21293734;21320969;21330666;21436265;21467170;21473666;21498618;21559412;21738390;21809908;21829377;21921978;22162627;22174098;22183384;22183385;22199244;22422030;22448417;22584882;22633354;22675492;23213274;23290749;23572118;23823511;23825107;23880862;24341532;24345323;24560797;24664688;24859690;838599;9445487;9679014;9700209 7439 B7Z1N8;B7Z375;E9PMB5;O76090 AB209451;ABBA01003208;AF057169;AF057170;AF073500;AF073501;AK289681;AK293701;AK294577;AK295450;AK295580;AK295838;AK295998;AK298747;AK301392;AK309076;AMYH02024884;AP003733;AY515704;BC015220;BC041664;CA388926;CH471076;JQ954696;NG_009033;NM_001139443;NM_001300786;NM_001300787;NM_004183;XM_005274210;XM_005274213;XM_005274215;XM_005274216;XM_005274217;XM_005274218;XM_005274219;XM_005274221;XM_006718676;XM_006718677;XM_006718678;XM_006718679;XM_006718680;XR_247211 AAC33766;AAC64343;AAC64344;AAC64926;AAH15220;AAH41664;AAR99654;AFR11385;BAD92688;BAF82370;BAH11574;BAH11817;BAH12072;BAH12111;BAH12198;BAH12234;BAH12865;BAH13472;EAW73982;EAW73983;EAW73984;EAW73985;EAW73986;EAW73987;EAW73988;NP_001132915;NP_001287715;NP_001287716;NP_004174;O76090;XP_005274267;XP_005274270;XP_005274272;XP_005274273;XP_005274274;XP_005274275;XP_005274276;XP_005274278;XP_006718739;XP_006718740;XP_006718741;XP_006718742;XP_006718743 Hs.524910;Hs.712676 1849750;1855697;2178702;5015861;5017170;5023353;5109281;5109777;5118576;7185938 D10S16;D11S3430;D11S3983;D1S1425;D1S2060E;D8S467;L29953;STS-L20941;WI-15952 ARB;BEST;BMD;RP50;TU15B;VMD2 Best disease;Best1V1Delta2;OTTHUMP00000235994;OTTHUMP00000235998;OTTHUMP00000235999;OTTHUMP00000236000;bestrophin-1;vitelliform macular dystrophy (best disease, bestrophin);vitelliform macular dystrophy protein 2 APPROVED protein-coding ENSG00000167995 HGNC:12703 01094 153700;193220;607854;608161;611809;613194 REVIEWED 1344321 BEST4 bestrophin 4 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008] 1 1 1 p33-p32.3 43532138 43536307 - 45247831 45253648 - 44782157 44787976 - 1580863;6480464 12032738;12477932;12907679;15489334;16702355;16710414;19237432;20467438;24223998;9700209 266675 Q8NFU0 ABBA01050909;AF440757;AL592166;AMYH02000918;AY515707;BC101823;BM142321;CH471059;NM_153274;XM_005270748 AAI01824;AAM76996;AAR99657;EAX07022;NP_695006;Q8NFU0;XP_005270805 Hs.302513 MGC126872;VMD2L2 OTTHUMP00000010157;bestrophin-4;vitelliform macular dystrophy 2-like 2;vitelliform macular dystrophy 2-like protein 2 APPROVED protein-coding ENSG00000142959 HGNC:17106 09549 607336 REVIEWED 1321272 BEND6 BEN domain containing 6 ENCODES a protein that exhibits RNA polymerase II transcription corepressor activity; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; dimethyl sulfoxide; progesterone 6 6 6 p12.1 58482926 58555295 + 56819773 56892450 + 56954975 57027652 + 6480464;8554872 12477932;14702039 221336 Q5SZJ8;Q5SZK0 ABBA01050487;ABBA01050488;AI803591;AK054724;AK303705;AK315926;AL450489;AL590037;AMYH02013783;BC022988;BC036119;CH471081;DC411761;NM_152731;XM_005248889;XM_005248890 AAH22988;AAH36119;BAB70799;BAH14024;BAH14297;EAX04469;NP_689944;Q5SZJ8;XP_005248946;XP_005248947 Hs.582993 1672080;1679197;1685952;1743231;5092884 G11929;G32391;GDB:306287;RH67080;RH94322 C6orf65;FLJ30162;bA203B9.1 BEN domain-containing protein 6;OTTHUMP00000016659;OTTHUMP00000016661 protein-coding ENSG00000151917 HGNC:20871 12893 VALIDATED 1606228 BEND5 BEN domain containing 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); INTERACTS WITH atrazine; fonofos; isotretinoin 1 1 1 p33 47479547 47528540 - 49193538 49242547 - 48727866 48776875 - 6480464;8554872 12477932;14702039;15489334;16169070;16189514;16713569;17207965;21832049;24722188;8889548 79656 Q7L4P6 ABBA01050796;AC097062;AK021650;AK055449;AK096573;AMYH02000982;BC007932;BC011804;BQ006447;BU743157;BX096297;CD579580;CD672851;CH471059;HI574312;NM_001302082;NM_024603;XM_005271199;XM_006710895;XM_006710896;XM_006710897 AAH07932;AAH11804;ADQ32714;BAB13864;BAG51519;CBX47645;EAX06848;EAX06849;EAX06850;EAX06851;EAX06852;NP_001289011;NP_078879;Q7L4P6;XP_005271256;XP_006710958;XP_006710959;XP_006710960 Hs.475348 1337883;1724773;1781452;2116701 D1S2724;RH122593;SHGC-112093;SHGC-74765 C1orf165;FLJ11588 BEN domain-containing protein 5;OTTHUMP00000009852 protein-coding HGNC:25668 VALIDATED 1343861 BEVI baboon M7 virus integration site 628 HGNC:1035 109180 1313368 BEST2 bestrophin 2 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 12753118 12758983 + 12862600 12869272 + 12751786 12758458 + 1580863;6480464 11904445;12032738;12477932;12907679;14702039;16912113;19237432;19398034;20157619;20407206;22360420;24223998;8125298;9700209 54831 H0YIH1;Q8NFU1 ABBA01029774;AC018761;AF440756;AK000139;AK225232;AMYH02035556;AY515705;CH471106;NM_017682;XM_005259963 AAM76995;AAR99655;BAA90970;EAW84304;NP_060152;Q8NFU1;XP_005260020 Hs.435611 FLJ20132;VMD2L1 OTTHUMP00000240705;OTTHUMP00000240706;VMD2-like gene 1;bestrophin-2;vitelliform macular dystrophy 2-like 1;vitelliform macular dystrophy 2-like protein 1 APPROVED protein-coding ENSG00000039987 HGNC:17107 607335 REVIEWED 1352390 BEX4 brain expressed, X-linked 4 This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011] X X X q22.1-q22.3 102909028 102911131 + 102469996 102472128 + 103215092 103217200 + 737633;1580863;6480464 12477932 14702039;15772651;15958283;16221301;21139048;21890473 56271 Q9NWD9 ABBA01021024;AI199874;AK000959;AL035494;AL544124;AMYH02040168;AV726729;AY833563;BC015794;BC068069;CH471190;NG_021339;NM_001080425;NM_001127688 AAI48485;AAI56671;AAX40681;BAA91443;EAW54719;EAW54721;NP_001073894;NP_001121160;Q9NWD9 Hs.184736 1690762;2115841 RH46879;RH80982 BEXL1;FLJ10097 BEX family member 4;BEX1-like protein 1;OTTHUMP00000023728;OTTHUMP00000023729;brain expressed X-linked-like 1;nerve growth factor receptor-associated protein 3 APPROVED protein-coding ENSG00000102409 HGNC:25475 300692 REVIEWED 1602713 BET1L Bet1 golgi vesicular membrane trafficking protein-like ENCODES a protein that exhibits SNAP receptor activity; INVOLVED IN retrograde transport, endosome to Golgi; FOUND IN endosome; Golgi apparatus; membrane; INTERACTS WITH 17beta-estradiol; bucladesine; copper(2+) sulfate 11 11 11 p15.5 351440 355953 + 202924 207422 - 202924 207422 - 6480464 11042152;11181995;11323436;11927603;12388752;12477932;14702039;15004235;15215310;15231747;15489334;16344560;18029348;19820697;19946888;21460842;21832049;21906983;21963094;21988832;22286173;22504420;23604678;23892540;24026423;24816145;8619474;9110174;9242691 51272 B8ZZS0;E9PHY4;E9PQJ6;H7BXT7;Q9NYM9 ABBA01011167;AC069287;AF151031;AF234160;AK022958;AK314273;AL833842;AMYH02024127;AY007148;BC000688;BC008971;BC016945;BC018839;BC032779;BC064025;CH471278;DA875317;DA880679;NM_001098787;NM_016526 AAF36117;AAF37877;AAG02004;AAH08971;AAH32779;ACE86980;ACE87669;BAG51142;NP_001092257;NP_057610;Q9NYM9 Hs.414418 2117080 RH16003 BET1L1;GOLIM3;GOS-15;GS15;HSPC197 BET1-like protein;BET1L {ECO:0000312|HGNC:HGNC:19348};OTTHUMP00000147612;OTTHUMP00000147613;OTTHUMP00000228523;OTTHUMP00000228524;OTTHUMP00000228525;blocked early in transport 1 homolog (S. cerevisiae)-like;blocked early in transport 1 homolog-like;golgi SNARE 15 kDa protein;golgi SNARE with a size of 15 kDa;golgi integral membrane protein 3;vesicle transport protein GOS15 APPROVED protein-coding ENSG00000177951 HGNC:19348 16547 615417 VALIDATED 732892 BET1 Bet1 golgi vesicular membrane trafficking protein This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q21.1-q22 88319269 88331959 - 93592082 93633693 - 93962770 94004381 - 1580863;6480464;8554872 10449330;11323436;11927603;12477932;12690205;12853948;15489334;16189514;17081983;19946888;21139048;21890473;21906983;21963094;21987572;22773346;22939629;23251661;8621431;9094723;9382863;9847074 10282 C9JTT8;H7C1N3;O15155;Q53XK0;Q68DU7 ABBA01045786;AC006378;AF007551;AK313984;AMYH02016285;BC000899;BC012595;BG721261;BT009853;BX505568;CH236949;CH471091;CR749267;NM_005868;XM_005250109 AAB62941;AAD47132;AAH00899;AAH12595;AAP88855;ABM85004;BAG36696;CAH18123;EAL24137;EAW76800;EAW76801;EAW76802;EAW76803;NP_005859;O15155;XP_005250166 Hs.489132 1671695;1713659;2114528;2133757;2185115;5022578;5022651;5037552 A004G30;D11S2921;D1S1423;D8S2279;G30358;RH120712;RH18332;RH78705 DKFZp781C0425;HBET1 BET1 homolog;Bet1p homolog;Golgi vesicular membrane trafficking protein p18;OTTHUMP00000163010;OTTHUMP00000208603;OTTHUMP00000208604;OTTHUMP00000208605;OTTHUMP00000208606;blocked early in transport 1 homolog;golgi vesicular membrane-trafficking protein p18 APPROVED protein-coding ENSG00000105829 HGNC:14562 16107 605456 REVIEWED 1343764 BEX1 brain expressed, X-linked 1 ENCODES a protein that exhibits RNA polymerase II activating transcription factor binding; INVOLVED IN positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; FOUND IN transcription factor complex; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; copper(2+) sulfate X X X q22.1 102756620 102758207 - 102317581 102319168 - 103062653 103064240 - 1580863;6480464 11989783;12054873;12477932;12911636;15489334;15772651;15920485;15958283;16221301;16314316;16498402;16818640;19028701;21890473;21900206;22053931;23362108;24333734 55859 Q9HBH7 ABBA01021002;AF183416;AF220189;AF237783;AK290958;AL008708;AMYH02040164;AMYH02040165;AY833561;BC018615;BC105298;BC126427;BC126429;BM465948;BX098763;CH471190;NM_018476 AAF67654;AAG09685;AAG09752;AAI26428;AAI26430;AAX40679;ADR83467;BAF83647;EAW54723;NP_060946;Q9HBH7 Hs.334370 2171059;5123915;5493829 RH18267;UniSTS:495179;WI-11354 BEX2;HBEX2;HGR74-h OTTHUMP00000024309;brain-expressed X-linked protein 1;ovarian granulosa cell 13.0 kDa protein hGR74 protein-coding ENSG00000133169 HGNC:1036 06460 300690 VALIDATED 1313470 BEST3 bestrophin 3 BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008] 12 12 12 q14.2-q15 69711071 69756899 - 70037334 70093196 - 69643508 69699416 - 1580863;6480464;8554872 12032738;12477932;12907679;14702039;15342556;15489334;16344560;17442670;19237432;22863734;9700209 144453 E9PNM2;F8VR37;F8VVX2;F8VZR0;Q8N1M1 ABBA01026536;ABBA01026537;AC016153;AC018921;AC025263;AF440758;AK096459;AMYH02026713;AY515706;BC006440;BC028087;BC151138;BF739974;BP225850;BX374313;CH471054;DA767581;NM_001282613;NM_001282614;NM_001282615;NM_001282616;NM_032735;NM_152439;NR_104220;XM_005268674;XM_006719251;XM_006719252;XM_006719253;XM_006719254;XM_006719255;XM_006719256 AAH06440;AAI66663;AAM76997;AAR99656;BAC04797;EAW97232;EAW97233;EAW97234;EAW97235;NP_001269542;NP_001269543;NP_001269544;NP_001269545;NP_116124;NP_689652;Q8N1M1;XP_005268731;XP_006719314;XP_006719315;XP_006719316;XP_006719317;XP_006719318;XP_006719319 Hs.280782 1678521;1698504;1715433;2117248;2125860;2125862;2141358;2147038;2185018;5019807 A009W40;D12S1816;G32926;RH102802;RH120549;RH44577;RH44642;RH93788;SHGC-33073;SHGC-34028 MGC13168;MGC40411;VMD2L3 OTTHUMP00000195114;OTTHUMP00000233491;OTTHUMP00000240995;OTTHUMP00000240996;bestrophin-3;vitelliform macular dystrophy 2-like 3;vitelliform macular dystrophy 2-like protein 3 APPROVED protein-coding ENSG00000127325 HGNC:17105 17484 607337 VALIDATED 1350233 BFLS Borjeson-Forssman-Lehmann syndrome ASSOCIATED WITH Borjeson-Forssman-Lehmann syndrome (inferred) 7240710 630 HGNC:1039 301900 1353223 BEX2 brain expressed X-linked 2 This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q22 103003273 103004973 - 102564274 102565974 - 103309346 103311046 - 737633;1580863;6480464 12477932 12054873;15489334;15772651;15958283;16189514;16221301;16314316;16818640;17251904;17638883;19412433;19711341;19835597;20482821;21384344;21890473;22053931;22698742;22907646;23022184 84707 Q9BXY8;X6RDN0 ABBA01021037;AF251053;AK312085;AL133348;AMYH02040168;AY833560;BC015522;BC050651;BI670202;BU569325;BU596902;CB961647;CD365521;CH471190;CK001963;DB498563;NG_016254;NM_001168399;NM_001168400;NM_001168401;NM_032621;Z70233 AAH15522;AAK34943;AAX40678;BAG35021;CAD24039;EAW54715;EAW54716;NP_001161871;NP_001161872;NP_001161873;NP_116010;Q9BXY8 Hs.398989 2174623 WI-15922 BEX1;DJ79P11.1;hBex2 OTTHUMP00000023734;OTTHUMP00000023735;OTTHUMP00000023736;brain-expressed X-linked protein 2 APPROVED protein-coding ENSG00000133134 HGNC:30933 06484 300691 REVIEWED 1348519 BEX5 brain expressed, X-linked 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; cyclosporin A; valproic acid X X X q22.1 101929239 101931548 - 101408679 101410986 - 102153707 102156014 - 737633;6480464;8554872 12477932 15489334;15772651;15958283;16221301;18236150 340542 Q5H9J7 ABBA01045059;AI985090;AMYH02040073;AY833564;BC042818;BC092450;BC106955;CH471115;NM_001012978;NM_001159560;Z70719 AAH42818;AAH92450;AAI06956;AAX40682;EAX02903;NP_001012996;NP_001153032;Q5H9J7 Hs.47209 1648127 SHGC-37409 MGC104434;MGC126446;NGFRAP1L1 BEX family member 5;NGFRAP1-like 1;NGFRAP1-like protein 1;OTTHUMP00000023705;brain-expressed X-linked protein 5;nerve growth factor receptor-associated protein 2 protein-coding ENSG00000184515 HGNC:27990 18484 300693 VALIDATED 1312438 BFAR bifunctional apoptosis regulator ENCODES a protein that exhibits structural molecule activity (inferred); zinc ion binding (inferred); INVOLVED IN negative regulation of apoptotic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 2-methylcholine; arsenous acid; diarsenic trioxide 16 16 16 p13.12 14903443 14939870 + 14726668 14763093 + 14632811 14669236 + 1580863;6480464;8554872 10716992;12477932;14502241;15489334;18805781;19549727;19690564;20523265;21068390;21890473;21906983;21963094;22566094 51283 H3BMP2;H3BMY8;H3BPQ8;H3BRQ5;H3BSU2;H3BTG6;H3BUB3;Q9NZS9 ABBA01006895;ABBA01006896;AC009167;AC243753;AF173003;AK291114;AK297067;AK300778;AK313890;BC003054;BI912683;BU621058;CH471112;NM_016561;XM_005255350;XM_006725196 AAF59975;AAH03054;ABM81574;ABM84754;BAF83803;BAG36613;BAG59588;BAG62442;EAW85105;EAW85106;EAW85107;EAW85108;EAW85109;NP_057645;Q9NZS9;XP_005255407;XP_006725259 Hs.435556 2120376;2128057;2143871;2164606 D16S2565E;RH48705;SHGC-61074;STS-M78938 BAR;RNF47 OTTHUMP00000160285;RING finger protein 47;bifunctional apoptosis inhibitor protein-coding ENSG00000103429 HGNC:17613 16548 VALIDATED 737302 BFSP1 beaded filament structural protein 1, filensin This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 p12.1 17549027 17614092 - 17474550 17549865 - 17493905 17569220 - 1580863;6480464;7240710;8699517;8554872 10909854;11780052;12477932;1478967;17225135;18029348;1918147;21145461;24319337;24379646;7504675;7615661;7679620;7720401;7781747;9628810;9787085 631 B7Z999;B7ZAD2;Q12934 ABBA01054022;ABBA01054023;ABBA01054024;ABBA01054025;AC010083;AF039655;AK304673;AK316247;AL031664;AL132765;AMYH02036766;AMYH02036767;AMYH02036768;BC041483;BF727338;BQ230198;CH471133;NG_012423;NM_001161705;NM_001195;NM_001278606;NM_001278607;NM_001278608;U12622;Y16717;Y16718;Y16723 AAA74423;AAB94939;AAH41483;BAH14235;BAH14618;CAA76348;CAA76349;EAX10277;EAX10278;NP_001155177;NP_001186;NP_001265535;NP_001265536;NP_001265537;Q12934 Hs.129702 CP115;CP94;CTRCT33;LIFL-H OTTHUMP00000030329;OTTHUMP00000062713;beaded filament structural protein 1;cytoskeletal protein, 115 KD;filensin;lens fiber cell beaded-filament structural protein CP 115;lens intermediate filament-like heavy APPROVED protein-coding ENSG00000125864 HGNC:1040 04494 603307;611391 REVIEWED 1347093 BFSP2 beaded filament structural protein 2, phakinin More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009] 3 3 3 q22.1 131545338 131620496 + 133118790 133194056 + 133399995 133475212 + 1600516;1580863;6480464;7240710;8554872;8699517 10729115 10739768;10753642;12477932;15489334;15570218;17200662;17982427;18029348;18958306;21836522;7504675;7720401;8636093;8889548;9628810 8419 Q13515 ABBA01059169;ABBA01059170;ABBA01059171;ABBA01059172;AC022296;AC055753;AF195044;AMYH02007700;AMYH02007701;AMYH02007702;AMYH02007703;BC113518;BC113520;BM667774;BM696370;BM696550;CH471052;GN344037;NG_012425;NM_003571;U12621;U48224 AAC50414;AAG30728;AAI13519;AAI13521;ADR83175;CAY55954;EAW79178;EAW79179;NP_003562;Q13515 Hs.659862 1725389;1727413;2148762;2154950 G63114;RH119012;RH70648;STS-N29638 CP47;CP49;CTRCT12;LIFL-L;MGC142078;MGC142080 49 kDa cytoskeletal protein;OTTHUMP00000216298;PHAKOSIN;beaded filament protein CP49;bfps2, Cytoskeletal protein, 49-kD;lens fiber cell beaded filament protein CP 47;lens fiber cell beaded filament protein CP 49;lens intermediate filament-like light;phakinin APPROVED protein-coding ENSG00000170819 HGNC:1041 04444 603212;611597 REVIEWED 619567 BGLAP bone gamma-carboxyglutamate (gla) protein ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN osteoblast differentiation; response to vitamin D; PARTICIPATES IN fibroblast growth factor signaling pathway; ASSOCIATED WITH Arthritis, Rheumatoid; Calcinosis; Crohn Disease; FOUND IN cytoplasm; INTERACTS WITH (S)-nicotine; 17alpha-ethynylestradiol; 17beta-estradiol 1 1 1 q22 129284933 129286094 + 156211951 156213123 + 156242160 156243332 + 1580863;2316184;6480464;6483581;6483557;6483566;6483579;6483580;6483549;6483561;6483542;6484113;6483568;6483578;6483546;6483593;6483595;6483600;6483321;6483563;6483594;6483599;6483552;7207412;7207422;7207408;7207232;7207414;7207224;7207424;7207225;7205481;7207229;7207235;7207248;7207410;7207231;7207409;7207419;8554872;9068449 12376805;12565780;12674322;12697366;15108065;15747054;16114020;16622660;17365904;18422975;19494718;19641839;20157712;20197689;20845051;21041817;2106357;21387139;21406003;21482072;21550389;21760737;21784896;21908029;22120694;22294259;22447331;22535626;22573557;22989431;3105848;3488088;7920889;9347246;9661594;9850345 10393081;10419538;10486212;10865224;11199188;11396736;11574953;11856645;11918225;11979972;12112004;12145306;12202187;12270142;12393937;12467198;12477932;12674332;12843190;12879219;15108070;15502821;15562030;15753298;15949438;16263577;16387359;16412323;16735944;17000892;17023519;17242729;17252541;17254772;17627084;17889845;18160010;18163903;18171674;18285546;18321663;18496130;18551993;18657532;19031822;19063687;19088165;19136823;19453261;19595020;19732762;19751416;19751417;19767102;19856264;19877133;20139978;20200947;20221651;20305683;20355242;20395593;20410230;20433876;20501596;20562864;20574675;20577791;20587710;20592451;20625700;20694489;20831864;21153019;21169728;21178793;21292339;21301010;21333348;21353261;21425331;21427224;21487672;21521304;21521333;21558934;21590731;21713451;21935388;21944272;21964930;21968268;22034088;22068385;22068892;22102412;22136751;22219025;22517558;22577088;22615158;22652825;22679141;22735266;22752126;22773701;22842327;22978420;23001602;23135318;23137636;23162093;23206207;23261860;23342952;2336375;23386651;23485732;23512417;23553865;23616149;23696116;23788330;2394711;24037881;24078129;24113735;24167545;24219294;24455828;24465160;24503413;24606073;24801588;24842726;2785029;3019668;6967872;7768973;9076588 632 P02818 ABBA01016665;AL135927;AMYH02001968;BC113432;BC113434;BU622466;CA428336;CH471121;CS025626;CS185557;DQ007079;HD117875;HH735900;NM_199173;X04143;X51699;X53698 AAI13433;AAI13435;AAY16981;ADR82791;CAA27763;CAA35996;CAA37736;CAI61690;CAJ42738;CBW53724;CBX74359;EAW52986;NP_954642;P02818 Hs.654541 1794720;1857036;2113674;2120254;2127136;2150829;5493377 A003B36;AB055289;PMC351321P3;RH11125;RH12024;STS-X04143;UniSTS:485876 BGP;OC;OCN;PMF1 OTTHUMP00000016586;bone Gla protein;bone gamma-carboxyglutamate (gla) protein (osteocalcin);gamma-carboxyglutamic acid-containing protein;osteocalcin protein-coding HGNC:1043 00205 112260 VALIDATED 8661321 BGLT3 beta globin locus transcript 3 (non-protein coding) p15.4 24837367 103344929 AY034471;BU658638;KF110790;NR_121648 Hs.295459 BGL3;LINC01083;lncRNA-BGL3 ncrna HGNC:49033 VALIDATED 737524 BGN biglycan The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan that is closely related in structure to two other small proteoglycans, decorin and fibromodulin. The encoded protein and decorin are thought to be the result of a gene duplication. Decorin contains one attached glycosaminoglycan chain, while this protein probably contains two chains. For this reason, this protein is called biglycan. This protein plays a role in assembly of collagen fibrils and muscle regeneration. It interacts with several proteins involved in muscular dystrophy, including alpha-dystroglycan, alpha- and gamma-sarcoglycan and collagen VI, and it is critical for the assembly of the dystrophin-associated protein complex. [provided by RefSeq, Nov 2009] X X X q28 152994048 153008701 + 152760347 152775004 + 153494889 153509546 + 1580863;6480464 10383378;10684260;10854409;11076863;11145944;11256614;11259413;11598131;11709279;11723132;11979972;12070165;12140283;12153565;12354766;12387878;12477932;12538652;14702039;15031262;15173106;15372625;15489334;15489336;15546867;15775969;16051607;1612609;16344560;16381901;16434404;16807372;16883602;16938379;16989735;17097211;17120779;17269742;17516017;18029348;18602826;1860845;18620607;18621549;18694824;18701807;18988796;19056867;19379665;19422643;19453261;19502413;19523462;19580379;1968422;20367117;20382708;20591478;2059554;21029365;21185747;21397694;21702857;21879307;21913799;21969569;21998129;22095710;2212616;22329809;22374465;22479366;22582394;22982459;23007878;23393390;24051360;24228112;24257755;2590169;2647739;3597437;7607653;7793988;7852349;7881444;8093006;8093671;8125298;8178833;8440685;9731537;9848887;9880804 633 A6NLG9;B4DNL4;C9JKG1;P21810;Q8NAB7 ABBA01045388;AI538325;AI570205;AK092954;AK093023;AK094059;AK222484;AK223302;AK291955;AK293268;AK293289;AK297966;AK298756;AMYH02040836;AU142113;AX148653;BC002416;BC004244;BT007323;CH471172;DC299956;DC419932;DC425011;J04599;M65151;M65153;NG_015961;NM_001711;U11686;U82695 AAA36009;AAA52287;AAC50117;AAH02416;AAH04244;AAP35987;ABM82824;ABM86010;BAC04007;BAD96204;BAD97022;BAF84644;BAG52637;BAG52806;BAG56798;BAG56813;BAG60276;BAG60898;CAC41201;CAL37481;CAL38559;EAW72861;EAW72862;EAW72863;EAW72864;EAW72865;NP_001702;P21810 Hs.821 1686740;1702710;1725625;2144807;2152487;2166135;5016946 DXS9901;G28556;G62027;GDB:192507;RH75559;RH91107;STS-M65154 DSPG1;PG-S1;PGI;SLRR1A OTTHUMP00000025928;OTTHUMP00000025930;biglycan proteoglycan;bone/cartilage proteoglycan I;bone/cartilage proteoglycan-I;dermatan sulphate proteoglycan I;small leucine-rich protein 1A APPROVED protein-coding ENSG00000182492 HGNC:1044 02359 301870 REVIEWED 737550 BHLHA15 basic helix-loop-helix family, member a15 ENCODES a protein that exhibits protein homodimerization activity (inferred); RNA polymerase II regulatory region sequence-specific DNA binding (inferred); RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (inferred); INVOLVED IN calcium-mediated signaling (inferred); cell maturation (inferred); cell-cell signaling (inferred); PARTICIPATES IN maturity onset diabetes of the young pathway; FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; genistein; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 q21.3 92535465 92536170 + 97840759 97844769 + 98212254 98212959 + 6480464;6907045 12477932;12617822;12690205;12853948;14516699;15489334;16645041;18557763;20038531;20382342;20709804;21098683;21907708;22354994;22374815;22495370;9073453;9482738 168620 Q7RTS1 ABBA01045734;AC091654;AMYH02016322;BC113394;BC113396;BK000276;CH236956;NM_177455 AAI13395;AAI13397;DAA01056;EAL23893;NP_803238;Q7RTS1 Hs.674510 5493017 UniSTS:483772 BHLHB8;MIST-1;MIST1 OTTHUMP00000205455;basic helix-loop-helix domain containing, class B, 8;class A basic helix-loop-helix protein 15;class B basic helix-loop-helix protein 8;class II bHLH protein MIST1;muscle, intestine and stomach expression 1 protein-coding ENSG00000180535 HGNC:22265 16356 608606 VALIDATED 2302834 BHLHA9 basic helix-loop-helix family, member a9 ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH potassium dichromate (ortholog) 17 17 17 p13.3 1187225 1187932 + 1173858 1174565 + 1270564 1271271 + 6480464 12617822;14516699;18557763;22147889;23035971 727857 Q7RTU4 ABBA01054652;ABBA01054653;AC032044;AC144836;AMYH02032733;BK000140;NM_001164405 DAA00302;NP_001157877;Q7RTU4 Hs.723790 BHLHF42 OTTHUMP00000163050;class A basic helix-loop-helix protein 9;class F basic helix-loop-helix factor 42;class II basic helix-loop-helix protein protein-coding HGNC:35126 615416 PROVISIONAL 1347976 BHLHB9 basic helix-loop-helix domain containing, class B, 9 This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] X X X q23 102414680 102446406 + 101975642 102008468 + 102720714 102752441 + 1303981;1580863;6480464 15034937 11214970;12477932;16221301;16344560;19056867;21139048;21832049;21890473;23000965;8619474;9110174 80823 Q6PI77 AB051488;ABBA01020964;ABBA01020965;ABBA01020966;ABBA01020967;ABBA01020968;AF035288;AF547055;AL035427;AMYH02040161;BC041409;CH471190;DA104939;DA211842;DA218716;DA326404;DA397309;DA398982;DA494496;DA718424;NG_021340;NM_001142524;NM_001142525;NM_001142526;NM_001142527;NM_001142528;NM_001142529;NM_001142530;NM_030639 AAH41409;AAQ12077;BAB21792;EAW54726;NP_001135996;NP_001135997;NP_001135998;NP_001135999;NP_001136000;NP_001136001;NP_001136002;NP_085142;Q6PI77 Hs.4276 1659996;1682618;1787252;2184264;5016851 A008N06;DXS7007E;RH78520;RH80031;SHGC-143390 GASP3;KIAA1701;p60TRP OTTHUMP00000023715;OTTHUMP00000023716;p60-like protein;transcription regulator of 60 kDa APPROVED protein-coding ENSG00000198908 HGNC:29353 10028 300921 REVIEWED 1313486 BHLHE22 basic helix-loop-helix family, member e22 BHLHE22 belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. These proteins function as dimers and bind to an E-box DNA sequence (CANNTG). BHLHE22 is expressed exclusively in the central nervous system and retina (Xu et al., 2002 [PubMed 12213201]).[supplied by OMIM, Jul 2010] 8 8 8 q13 61482821 61486193 + 65492795 65496191 + 64580238 64583634 + 1580863;6480464 12213201;12477932;12617822;14516699;14702039;18557763;9225980 27319 B4DF88;Q8NFJ8 AA927689;ABBA01041852;AC090136;AF504925;AI867692;AI968349;AK091333;AK293979;AMYH02018086;AW206610;BC033056;BC045748;BK000273;CH471068;NM_152414 AAI56672;AAM28881;BAG57349;DAA01053;EAW86876;NP_689627;Q8NFJ8 Hs.388788;Hs.591870;Hs.745052 1739361;1797322;2177326;2177328;2177330;5493801 BHLHB5_2248;D8S1572E;RH47310;RH77917;RH77918;UniSTS:494896 BHLHB5;Beta3;CAGL85;TNRC20 OTTHUMP00000226588;basic helix-loop-helix domain containing, class B, 5;class B basic helix-loop-helix protein 5;class E basic helix-loop-helix protein 22;trinucleotide repeat containing 20;trinucleotide repeat-containing gene 20 protein APPROVED protein-coding ENSG00000180828 HGNC:11963 16551 613483 VALIDATED 1346145 BHLHE23 basic helix-loop-helix family, member e23 This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013] 20 20 20 q13.33 58313980 58315036 - 61637331 61638387 - 63005979 63007035 - 6480464 11780052;11863370;12136098;12477932;12617822;14516699;15363390;18557763 128408 Q8NDY6 ABBA01021378;AJ328944;AL121673;AMYH02037446;BC137288;BC137308;BK000274;CH471077;NM_080606 AAI37289;AAI37309;DAA01054;EAW75311;EAW75312;NP_542173;Q8NDY6 Hs.551230 BETA4;BHLHB4;bA305P22.3 OTTHUMP00000031526;basic helix-loop-helix domain containing, class B, 4;class B basic helix-loop-helix protein 4;class E basic helix-loop-helix protein 23 APPROVED protein-coding ENSG00000125533 HGNC:16093 16550 609331 REVIEWED 68659 BHLHE40 basic helix-loop-helix family, member e40 This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014] 3 3 3 p26 4959047 4964811 + 5021097 5026866 + 4979412 4985181 + 625726;1580863;6480464;6484113 12397359 10449910;10737769;11226878;11278694;11668339;11688991;12119049;12297495;12354771;12384505;12477932;12624110;12754744;14672706;15193144;15223310;15489334;15560782;15719173;15994878;16136500;16169070;16344560;16462771;16487626;16878149;17347673;17376295;17487425;18025081;18029348;18228528;18345027;18411297;18557763;19322201;19471022;19590847;19693801;19786558;19913121;20072116;20174623;20628086;20863812;20936779;21327324;21528084;21693764;21829689;21867633;21906983;21963094;21979947;21987572;21988832;22678901;22905217;23220548;23426649;23445622;24722188;9240428 8553 O14503;Q6IB83 AA632164;AB004066;AB043885;ABBA01020463;AC090955;AK293205;AK309173;AK312509;AMYH02006188;BC068292;BC082238;BI962730;CH471055;CR456921;DB144350;EF015895;HI574236;NM_003670 AAH82238;ABM64206;ABZ92197;BAA21720;BAB18565;BAG35410;BAG56745;CAG33202;CBX47607;EAW63916;EAW63917;NP_003661;O14503 Hs.744856 1664307;1735262;1770912;1797318 BHLHB2_2101;D3S2920E;D3S3912;SHGC-37025 BHLHB2;DEC1;FLJ99214;HLHB2;SHARP-2;STRA13;Stra14 OTTHUMP00000147574;basic helix-loop-helix domain containing, class B, 2;basic helix-loop-helix domain containing, class b2;class B basic helix-loop-helix protein 2;class E basic helix-loop-helix protein 40;differentially expressed in chondrocytes 1;differentially expressed in chondrocytes protein 1;differentiated embryo chondrocyte expressed gene 1;enhancer-of-split and hairy-related protein 2;stimulated by retinoic acid gene 13 protein APPROVED protein-coding ENSG00000134107 HGNC:1046 16050 604256 REVIEWED 6908992 BHLHE40-AS1 BHLHE40 antisense RNA 1 3 3 p26 4938493 5021646 - 4898226 4906501 - 14702039 100507582 ABBA01020465;ABBA01020466;AC018816;AK056892;AK311159;AK311646;AMYH02006184;DA948054;HG495401;HG495402;HG495403;HG495404;KF573690;NR_037903;NR_125914;NR_125915;NR_125916 Hs.434505 5020948;5022200;5022588 D5S1597E;G35510;L18426 AC018816.4 ncrna ENSG00000235831 HGNC:44471 VALIDATED 731061 BHLHE41 basic helix-loop-helix family, member e41 This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014] 12 12 12 p12.1 31419506 31424550 - 26272959 26278003 - 26120026 26125070 - 625726;1580863;6480464;6484113 12397359 11058868;11162494;11278948;12354771;12477932;12624110;12657651;14672706;15193144;15560782;16287852;17194498;17487425;18223678;18228528;18345027;18411297;18557763;19029947;19679812;19786558;19839995;19913121;20072116;20174623;20628086;20821348;21129405;21327324;21693764;22355045;22572381;22801492;23637228;24165159;24561520 79365 B7Z8M6;Q8TAT1;Q9C0J9 AB044088;ABBA01068030;ABBA01068031;AC022509;AJ270695;AK303677;AK311258;AMYH02026232;AW500664;AY665466;AY665467;BC025968;CH471094;EF015896;NG_012011;NG_021173;NM_030762 AAH25968;AAV54601;AAV54602;ABM64207;BAB21502;BAH14012;EAW96527;EAW96528;NP_110389;Q9C0J9 Hs.177841 1651384;1680851;1699592;1797320 BHLHB3_2085;RH103397;RH80435;STS-R68240 BHLHB3;DEC2;SHARP-1;SHARP1;hDEC2 OTTHUMP00000240318;basic helix-loop-helix domain containing, class B, 3;class E basic helix-loop-helix protein 41;differentially expressed in chondrocytes 2;differentially expressed in chondrocytes protein 2;enhancer-of-split and hairy-related protein 1 APPROVED protein-coding ENSG00000123095 HGNC:16617 16204 606200;612975 REVIEWED 9479475 BHMG1 basic helix-loop-helix and HMG box domain containing 1 INTERACTS WITH chloroprene (ortholog) 19 19 19 q13.32 43049081 43073496 + 46236515 46267376 + 45739630 45759490 + 6480464 388553 ABBA01040949;ABBA01040950;AC074212;AMYH02036207;BI463439;BQ215245;DV080301;DV080302;NR_038267 Hs.721835 protein-coding HGNC:44318 MODEL 1346951 BHMT betaine--homocysteine S-methyltransferase This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008] 5 5 5 q14.1 74300507 74323326 + 78407604 78428113 + 79111781 79132290 + 1580863;6480464;6907045;7242425;7242426;7242428 20346934;20814827;23073625 10075673;10529246;11223523;11516176;11883905;12071701;12220488;12475213;12477932;12749058;12818402;15122900;15489334;16189514;16344560;1657504;16816108;16953798;17035141;17119116;17376725;17436311;17705221;17993766;18000879;18029348;18230605;18230680;18262489;18427977;18457970;18498552;18635682;18676680;18708404;18830263;18988749;19048631;19161160;19170196;19336437;19493349;19625176;19635752;19683694;19692168;19737740;19777601;19913121;19936946;19948975;20031554;20346360;20453000;20458436;20628086;20634891;20662904;20664391;20737570;21093336;21349258;21564312;21565678;21630102;21988832;22138536;22339686;22339736;23378610;23645037;23720494;8798461;8889548;9281325;9681996 635 E5RJH0;Q93088;V9HWA4 ABBA01062002;ABBA01062003;ABBA01062004;AC008502;AF118371;AF118372;AF118373;AF118374;AF118375;AF118376;AF118377;AF118378;AK298308;AK303780;AK315224;AMYH02011639;AY325901;BC012616;BM678994;CH471084;DA370221;EU794592;NG_029156;NM_001713;U50929 AAC50668;AAD22043;AAH12616;AAQ90058;ACJ13646;BAG37653;BAG60562;BAG64739;EAW95831;EAW95832;NP_001704;Q93088 Hs.80756 1656439;1658462;1671780;1684940;1687548;1773092;2158259;2218308 BHMT_54.2;RH16250;RH35961;RH80672;RH91498;SGC33609;SHGC-33971;SHGC-56646 BHMT1;HEL-S-61p OTTHUMP00000135297;betaine homocysteine methyltransferase;betaine--homocysteine S-methyltransferase 1;betaine-homocysteine methyltransferase;epididymis secretory sperm binding protein Li 61p APPROVED protein-coding ENSG00000145692 HGNC:1047 04200 602888 REVIEWED 1352435 BHMT2 betaine--homocysteine S-methyltransferase 2 Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 5 5 5 q13 74258430 74278792 + 78365547 78385897 + 79069724 79090074 + 1580863;6480464;8554872 11087663;12477932;12818402;14702039;15489334;16712791;18230605;18427977;18457970;18635682;19048631;19056867;19161160;19493349;19737740;19913121;19948975;20458436;20628086;20634891;20662904;21564312;21832049;23378610;23720494 23743 E5RGH5;E5RH96;Q9H2M3 ABBA01062002;AC008502;AC020937;AF257473;AK000008;AK298298;AK315520;AMYH02011639;BC020665;CB140104;CH471084;NG_029157;NM_001178005;NM_017614 AAG41356;AAH20665;ABM82296;ABM85476;BAA90880;BAG37901;BAH12752;EAW95827;EAW95828;EAW95829;EAW95830;NP_001171476;NP_060084;Q9H2M3 Hs.114172 1697742;2109083;2129883;5015961;5016478;5022322;5022578;5109281 BHMT2_9396;D11S2560;D15S1477;D1S1423;D1S1425;GDB:434012;RH102393;RH46927 FLJ20001 OTTHUMP00000135298;OTTHUMP00000222849;S-methylmethionine--homocysteine S-methyltransferase BHMT2;SMM-hcy methyltransferase;betaine-homocysteine methyltransferase 2 APPROVED protein-coding HGNC:1048 12069 605932 REVIEWED 1316665 BICC1 BicC family RNA binding protein 1 This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009] 10 10 10 q21.1 53537852 53853737 + 60272774 60591194 + 58513016 58831435 + 6480464;8554872 11231089;14702039;15465627;16385451;20379614;20516156;21922595;22910460;23251661;23322567;23396134;24789909;8125298;8889548 80114 A6NGY7;Q9H694 ABBA01019441;ABBA01019442;ABBA01019443;AC012168;AC012472;AC023170;AK026129;AK130049;AK225427;AK225429;AK307780;AMYH02023156;AMYH02023157;AY726586;BM972104;BQ014634;BX538102;CF242850;CH471083;NG_029759;NM_001080512;XM_005270166;XM_005270167;XM_005270168;XM_005270169;XM_005270170 AAI56901;BAB15369;EAW54176;EAW54182;NP_001073981;Q9H694;XP_005270223;XP_005270224;XP_005270225;XP_005270226;XP_005270227 Hs.100261;Hs.158745;Hs.633222 1705556;1779114;1850061;1856757;2172504;2180925 D10S1581;G17501;RH77835;SHGC-37463;SHGC-83883;WI-18264 BICC;CYSRD;DKFZp686I21119;bic-C FGFR2-BICC1 fusion kinase protein;OTTHUMP00000019636;bicaudal C homolog 1 APPROVED protein-coding ENSG00000122870 HGNC:19351 601331;614295 REVIEWED 1319790 BICD1 bicaudal D homolog 1 (Drosophila) This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 p11.2-p11.1 12081147 12351535 + 32259713 32536567 + 32106779 32383633 + 6480464;8554872 12401177;12447383;12477932;12522145;12892780;14702039;15489334;16320833;16344560;16473624;17043677;17101644;17139249;17562788;17707369;18487243;19010793;19596235;19825938;19851299;20080650;20164183;20379614;20686608;20709820;21988832;23251661;8530100;9367685 636 A8MVZ6;F8VZX7;F8W056;Q96G01;U3KQF7 AA207154;AA249429;ABBA01031717;ABBA01031718;ABBA01031719;ABBA01031720;ABBA01031721;ABBA01031722;ABBA01031723;ABBA01031724;ABBA01031725;ABBA01031726;ABBA01031727;AC016954;AC026356;AC048344;AC087245;AC087316;AK095648;AK290188;AK313430;AL117598;AMYH02026294;AMYH02026295;AMYH02026296;AMYH02026297;AMYH02026298;AMYH02026299;AMYH02026300;AU132680;BC010091;BC047110;BC136372;CH471116;LK938713;NM_001003398;NM_001714;U90028;U90030;XM_005253465;XM_005253466;XM_006719134;XR_242898 AAB94805;AAB94806;AAI36373;BAF82877;EAW88532;EAW88533;EAW88534;NP_001003398;NP_001705;Q96G01;XP_005253522;XP_005253523;XP_006719197 Hs.505202;Hs.633204 1644885;1681133;1684371;1689474;1714841;1733582;1733608;1754739;2107893;2129681;2155880;2156018;2174452;2179659;5494118 BICD1_8231;D12S1308;D12S911;D12S934;D20S431;RH120415;RH66618;RH92916;RH93400;RH94291;SHGC-133101;SHGC-64856;STS-AA018216;WI-5606;fj02h10.x1 BICD OTTHUMP00000240725;OTTHUMP00000240726;OTTHUMP00000240727;bic-D 1;cytoskeleton-like bicaudal D protein homolog 1;protein bicaudal D homolog 1 APPROVED protein-coding ENSG00000151746 HGNC:1049 03730 602204 REVIEWED 1352041 BICD2 bicaudal D homolog 2 (Drosophila) This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008] 9 9 9 q22.31 65915700 65969136 - 95473645 95527083 - 92711363 92764801 - 6480464;8699517;7240710;8554872 11483508;11864968;12401177;12447383;12477932;14609947;15144186;15164053;15302935;15489334;15592455;16417406;16473624;16964243;17081983;17139249;18029348;18976975;19596235;19615732;20360068;21139048;22190034;22589738;22956769;23097494;23664116;23664119;23664120;24816145;9734811 23299 Q8TD16;Q96FU2 AB014599;ABBA01018592;ABBA01018593;ABBA01018594;AL136981;AL137074;AMYH02021225;AY052562;BC004296;BC010428;BC073970;CH471089;NG_033908;NM_001003800;NM_015250 AAH04296;AAH10428;AAH73970;AAL12246;BAA31674;EAW62829;NP_001003800;NP_056065;Q8TD16 Hs.436939 1650891;1662827;1662829;1668594;1677422;1746009;2109085 A002D08;BICD2_9337;G06234;G19949;RH121891;RH91165;WI-17979 KIAA0699;SMALED2;bA526D8.1 OTTHUMP00000022790;OTTHUMP00000022791;bic-D 2;coiled-coil protein BICD2;cytoskeleton-like bicaudal D protein homolog 2;homolog of Drosophila bicaudal D;protein bicaudal D homolog 2 APPROVED protein-coding ENSG00000185963 HGNC:17208 09826 609797;615290 REVIEWED 1346183 BID BH3 interacting domain death agonist This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] 22 22 22 q11.1 1836614 1876916 - 18216906 18257431 - 17734140 17774665 - 1580863;2313998;2314029;2314002;2317560;2317561;2317562;4143170;4143196;4143171;6480464;6484113;6907045;8554872 15943879;17403612;18090083;18931364;19239902;19641503;19888517;19940077;19961901 10089877;10364179;10629050;10950869;11085743;11099414;11114298;11399776;11544326;11583622;11583631;11585909;11741882;11790791;11805084;11832478;11929871;11940658;11971973;12000759;12061801;12097160;12193163;12196516;12404116;12419244;12477932;12598529;12624108;12754217;12766488;12804595;12808108;12871587;12934063;14581476;14583606;14702039;14716828;14769944;15024076;15117953;15123718;15146197;15173176;15231831;15323553;15353804;15461802;15489334;15501827;15520201;15574335;15592455;15615731;15637055;15659383;15692567;15694340;15721256;15772077;15809076;16077201;16167175;16172118;16341674;16344560;16380381;16475813;16485030;16697956;16908521;16964285;16987815;17052454;17200714;17226776;17283187;17289999;17308307;17431792;17488272;17534194;17549073;17635912;17666167;17762183;17765974;17855051;18029348;18089817;18165867;18166654;18173728;18195012;18297401;18309324;18317451;18373075;18469004;18593990;18648372;18665919;18723680;18838202;18925930;19029793;19046991;19052714;19074440;19074885;19219602;19233849;19246452;19381674;19423537;19454696;19640637;19641510;19670908;19711428;19820711;19890662;19913121;19918914;19929986;20140092;20187936;20356928;20379614;20392206;20404718;20453000;20628086;20801175;20802294;20855536;20877624;21041309;21060336;21072056;21113148;21139048;21148306;21178828;21223573;21367852;21382479;21613222;21642428;21751259;21856753;21859891;21900206;21906983;22052011;22115752;22130162;22189507;22213163;22246181;22339673;22354970;22393005;22416135;22464442;22860893;22939629;22964611;23019260;23192964;23333919;23352961;23364796;23383273;23418437;23604079;23744079;23824909;23851982;24038028;24074954;24158446;24398548;24645842;7774948;7929347;8918887;9463381;9721221;9727491;9727492;9790773 637 A8ASI8;B2ZP79;B3KT21;P55957 ABBA01001430;ABBA01001431;ABBA01001432;AC006285;AC016026;AF042083;AF087891;AF250233;AF370380;AK094795;AK313729;AMYH02038013;AMYH02038014;AMYH02038015;AMYH02038016;AY005151;AY309922;BC009197;BC022072;BC033634;BC036364;BM561391;BM842561;BQ068464;CH471193;CN277529;CQ786436;CR407603;CR456389;D89803;DA007047;DA158889;DA274603;DB167767;EU447348;EU678292;EU678293;EU678294;NM_001196;NM_001244567;NM_001244569;NM_001244570;NM_001244572;NM_197966;NM_197967 AAC34365;AAF89091;AAH09197;AAH22072;AAH33634;AAH36364;AAO32633;AAP50259;AAP97190;AAQ15216;ABZ92041;ACA61804;ACD47106;ACD47107;ACD47108;BAF79673;BAG36471;BAG52933;CAG17894;CAG28531;CAG30275;CAK54378;CAK54677;EAW57770;EAW57771;EAW57772;EAW57773;EAW57774;NP_001187;NP_001231496;NP_001231498;NP_001231499;NP_001231501;NP_932070;NP_932071;P55957 Hs.591054 1651664;1685752;1729187;1743413;5015619;5015861;7185938 D10S16;D11S3114;GDB:316037;RH92974;SHGC-36512;p1087L10.C1 FP497;MGC15319;MGC42355 BH3-interacting domain death agonist;BID isoform ES(1b);BID isoform L(2);BID isoform Si6;Human BID coding sequence;OTTHUMP00000196194;OTTHUMP00000196195;OTTHUMP00000196197;OTTHUMP00000241218;apoptic death agonist;desmocollin type 4;p22 BID APPROVED protein-coding ENSG00000015475 HGNC:1050 03590 601997 REVIEWED 1347683 BIK BCL2-interacting killer (apoptosis-inducing) The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011] 22 22 22 q13.31 27417143 27436106 + 43506754 43525718 + 43110748 43129712 + 1580863;2314029;6480464 19641503 10381623;10381646;10500065;10591208;10974546;11342619;11375329;11782349;11884414;12477932;12853473;12874789;14983013;15342556;15461802;15489334;15694340;15721256;15731089;15767553;15791210;15809295;15824729;16060964;16189514;16341674;16697956;17027756;17047080;17289999;17574210;17714764;18299962;18519826;18636124;19632297;19641504;19767753;19898928;19913121;20379614;20564319;20628086;20855536;21063407;21613222;21622563;21743057;21832049;21906983;21988832;22139380;22288719;22388352;22795130;22855140;22873408;24527759;24554662;7478623;8521816;8816500;9130713;9463381;9488477;9525867 638 Q13323 ABBA01017908;ABBA01017909;AF174424;AL022237;AMYH02038471;AY245248;BC001599;BM765910;BP329261;BT006728;CH471138;CR456390;CR541863;CR541883;NM_001197;U34584;U49730 AAC50413;AAC79124;AAF01156;AAH01599;AAO61089;AAP35374;ABM84664;ABM84671;ABM92195;CAA18260;CAG30276;CAG46661;CAG46681;CAK54379;CAK54678;EAW73282;EAW73283;EAW73284;NP_001188;Q13323 Hs.475055 1298134;1298166;1298206;2108709 BIK_7754;D6S1017;D6S1021;D6S1031 BIP1;BP4;NBK OTTHUMP00000198290;apoptosis inducer NBK;apoptosis-inducing NBK;bcl-2-interacting killer APPROVED protein-coding ENSG00000100290 HGNC:1051 04547 603392 REVIEWED 732350 BIN1 bridging integrator 1 This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Sep 2011] 2 2 2 q14 121117653 121176919 - 127805599 127864903 - 127048023 127107327 - 1580043;1580047;704404;704405;1580863;6480464;7240710;8554872;8699517 10652430;12532338 10036185;10094488;10380878;10391921;10412034;10430869;10449755;10738240;10764771;10899172;10903846;11032017;11076863;11230166;11256614;11306501;11384986;11422041;11709703;12183633;12456676;12477932;12558988;12604805;12668730;12773571;12972505;14702039;14704274;15207703;15302935;15483625;15489336;15992821;16115810;16169070;16275660;16381901;16516635;16530520;17059209;17081983;17210688;17218774;17244534;17474147;17611416;17671430;17676042;17699764;18029348;18154705;18348166;18658220;18817572;18985028;19004523;19144635;19322201;19418541;19629135;19851296;19915558;20140253;20142620;20169111;20198315;20211142;20460622;20558387;20927630;21059989;21129173;21220176;21321396;21347408;21379329;21390209;21447796;21460840;21460841;21623381;21627779;21678469;21832049;21984944;22005930;22281836;22539578;22544318;22810585;22832961;22863883;22976291;23202439;23570733;23754947;23803295;23871436;24162737;24205320;25036637;8619474;8725406;8782822;8889548;9110174;9182529;9182667;9195986;9223448;9280305;9315708;9341169;9348539;9356459;9395479;9418903;9603201;9736607 274 B7Z6Y2;O00499;Q9BTH3 ABBA01040216;AC012508;AF001383;AF004015;AF043898;AF043899;AF043900;AF043901;AF068914;AF068915;AF068916;AF068917;AF068918;AF070576;AK127325;AK295300;AK301153;AL713697;AMYH02004729;BC004101;BM711160;BT006865;CF594020;CH471103;NG_012042;NM_004305;NM_139343;NM_139344;NM_139345;NM_139346;NM_139347;NM_139348;NM_139349;NM_139350;NM_139351;U68485;U83999;U84004;U87558;XM_005263642;XM_005263643;XM_005263644;XM_005263645;XM_005263646;XM_005263647;XM_005263648;XM_006712424;XM_006712425;XM_006712426;XM_006712427;XM_006712428;XM_006712429;XM_006712430;XM_006712431;XM_006712432;XM_006712433;XM_006712434 AAB61363;AAB63263;AAC17461;AAC23440;AAC23441;AAC23750;AAC23751;AAC24126;AAC24127;AAC24128;AAC28646;AAC39710;AAC39711;AAC39712;AAC39713;AAC51345;AAH04101;AAP35511;AAY24328;ACE86592;BAH12028;BAH13418;CAD28496;CAL37828;EAW95286;EAW95287;EAW95288;EAW95289;EAW95290;EAW95291;EAW95292;EAW95293;EAW95294;EAW95295;EAW95296;EAW95297;EAW95298;EAW95299;EAW95300;EAW95301;EAW95302;EAW95303;EAW95304;EAW95305;EAW95306;EAW95307;NP_004296;NP_647593;NP_647594;NP_647595;NP_647596;NP_647597;NP_647598;NP_647599;NP_647600;NP_647601;O00499;XP_005263699;XP_005263700;XP_005263701;XP_005263702;XP_005263703;XP_005263704;XP_005263705;XP_006712487;XP_006712488;XP_006712489;XP_006712490;XP_006712491;XP_006712492;XP_006712493;XP_006712494;XP_006712495;XP_006712496;XP_006712497 Hs.193163 1665983;1713797;1723301;1734790;1792646;2145088;2219030 BIN1__4446;D2S1563E;G29312;PMC156129P2;RH120786;RH122339;STS-AA039724 AMPH2;AMPHL;DKFZp547F068;MGC10367;SH3P9 OTTHUMP00000162177;OTTHUMP00000162178;OTTHUMP00000162179;OTTHUMP00000162180;OTTHUMP00000162181;OTTHUMP00000162182;OTTHUMP00000162183;OTTHUMP00000162184;OTTHUMP00000162185;OTTHUMP00000203785;OTTHUMP00000203786;amphiphysin II;amphiphysin-like protein;box dependant MYC interacting protein 1;box-dependent myc-interacting protein 1;myc box dependent interacting protein 1;myc box-dependent-interacting protein 1 APPROVED protein-coding ENSG00000136717 HGNC:1052 03150 255200;601248 REVIEWED 1315604 BIN2 bridging integrator 2 ENCODES a protein that exhibits phospholipid binding; INVOLVED IN cell chemotaxis; membrane tubulation; phagocytosis, engulfment; FOUND IN phagocytic cup; podosome; INTERACTS WITH cytarabine; cisplatin (ortholog); dibutyl phthalate (ortholog) 12 12 12 q13 50476304 50519423 - 51674822 51718446 - 51281038 51324198 - 6480464 10903846;12477932;14702039;15489334;16541075;20379614;21044950;21782286;21890473;23285027;24816145;8125298 51411 B7Z6F3;F5H0W4;Q9UBW5;S4R3J0;S4R418 AB032698;AB032710;ABBA01031609;ABBA01031610;ABBA01031611;AC046135;AF146531;AK000783;AK093638;AK225911;AK300211;AK314304;AMYH02026484;AMYH02026485;BC047686;BG388638;BX281612;CB996605;CH471111;DB035315;NM_001290007;NM_001290008;NM_001290009;NM_016293;XM_005268957;XM_005268958 AAD54227;AAH47686;BAA88108;BAA88125;BAA91376;BAG36957;BAH13239;EAW58186;EAW58187;EAW58188;NP_001276936;NP_001276937;NP_001276938;NP_057377;Q9UBW5;XP_005269014;XP_005269015 Hs.14770 1696968;1707290;2135947;2170747 D12S1811;G21352;RH101956;SHGC-79249 BRAP-1 breast cancer associated protein BRAP1;breast cancer-associated protein 1;bridging integrator-2 protein-coding ENSG00000110934 HGNC:1053 05805 605936 VALIDATED 5686997 BIN2P1 bridging integrator 2 pseudogene 1 4 4 4 q21.22 80486871 80488822 + 83196002 83197953 + 82274849 82276800 + 345258 ABBA01063426;AC116631;AMYH02009594;NG_022065 1696968 RH101956 pseudo HGNC:43660 INFERRED 5686996 BIN2P2 bridging integrator 2 pseudogene 2 5 5 5 q13.3 71099537 71100849 + 75206381 75207693 + 75910556 75911868 + 644601 ABBA01061948;AC108120;AMYH02011597;NG_021885 1757915 SHGC-146848 pseudo HGNC:43661 INFERRED 1317921 BIN3 bridging integrator 3 The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008] 8 8 8 p21.3 21439785 21488652 - 22477931 22526661 - 22620418 22669148 - 1580863;6480464 11274158;12477932;14702039;14993925;15489334;16344560;16524918;17207965;17353931;18654987;22505724;8125298 55909 E5RGB5;E5RHU4;E5RJI6;H7BYV6;Q9NQY0 ABBA01005526;AC037459;AC105046;AF271732;AK001289;AK023980;AK090446;AK124486;AK222470;AMYH02017594;AMYH02017595;BC001223;BC009824;BC050314;CH471080;DA480525;KF458708;NM_018688;XM_005273573 AAF76218;AAH01223;AAH09824;ADQ31692;BAA91603;BAB14751;BAC03427;BAD96190;EAW63650;EAW63651;EAW63652;EAW63653;EAW63654;EAW63655;EAW63656;NP_061158;Q9NQY0;XP_005273630 Hs.433722 1336126;1758887;1786742;2147159;2152812;5014051;5015619;5037552 D11S3114;D8S1733;D8S2278;D8S2279;RH47796;RH48987;SHGC-150806;SHGC-155287 MGC14978 OTTHUMP00000225122;OTTHUMP00000225124;OTTHUMP00000225126 APPROVED protein-coding ENSG00000147439 HGNC:1054 05904 606396 REVIEWED 2307244 BIN3-IT1 BIN3 intronic transcript 1 (non-protein coding) 8 8 8 p21.3 21459738 21461576 - 22497884 22499722 - 22640371 22642209 - 12477932;14702039;21832049 80094 Q9H7X8 ABBA01005526;AC037459;AK024169;AMYH02017595;BC013100;CH471080;DN996902;NR_027715 AAH13100;BAB14845;EAW63657 Hs.675917 APPROVED ncrna HGNC:25868 07850 VALIDATED 1347209 BIRC2 baculoviral IAP repeat containing 2 The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 11 11 11 q22 99379519 99410957 + 102217913 102249401 + 102347182 102378670 + 1580863;1643526;1643527;1643528;1643529;6480464;6484113;6907045;7800730;8554872 12208731;12218061;16504151;17154176;23085193 10404221;10753917;10929712;11084335;11106668;11181075;11562359;11583623;11604410;11906213;11907583;12209092;12243753;12388702;12477932;12525502;12571250;12603340;12651874;12761501;12851723;12865429;12867425;12867997;12887920;12888921;14708638;14960576;14960583;15078891;15183896;15187025;15218035;15318034;15353805;15359644;15489334;15501771;15580265;15665297;15707590;15861135;15911110;16080516;16180223;16189514;16263936;16282325;16339151;16344560;16510124;16701639;16775178;16775419;16891304;16929535;16983704;17069460;17220297;17613533;17626072;17822677;17993464;18022362;18022363;18082613;18230607;18239673;18414036;18434593;18566024;18570872;18621506;18621737;18676680;18775313;18827186;18846111;18931663;18939944;19011619;19029953;19153467;19154529;19170196;19223549;19258326;19336370;19373254;19397698;19416853;19464198;19506082;19567200;19584093;19690564;19692168;19698783;19720604;19810754;19815541;19854138;19893574;19913121;20005846;20078866;20097753;20184394;20348096;20447407;20458734;20562859;20614026;20628086;20667824;20932475;20951133;20957035;20972266;21041727;21048031;21048196;21113135;21139048;21331077;21393245;21414315;21525013;21549626;21628460;21653699;21795072;21817100;21849505;21890473;21903422;21906983;21931591;21963094;21987572;21988832;22021857;22117219;22212761;22274400;22403404;22434933;22493164;22505724;22591684;22607974;22711539;22733500;22815481;22927431;22990857;23000965;23007157;23085658;23109427;23201124;23250032;23269702;23275033;23453969;23524849;23535732;23605047;23732909;23918987;23972990;24008361;24008839;24083782;24093940;24194568;24276241;24371121;24382102;24422988;24425875;24633224;24726327;24975362;25065467;8125298;8548810;8552191;8643514;8938457;8943045;9384571;9545235;9642260;9705938;9892732 329 E9PI77;E9PIW1;E9PMH5;E9PNM6;E9PQZ9;H0YDY3;Q13490 ABBA01039934;ABBA01039935;AK225856;AK303197;AK313446;AMYH02025483;AMYH02025484;AP000942;BC016174;BC028578;BX647978;CH471065;DA094075;DA115985;DQ068066;KF455475;L49431;NM_001166;NM_001256163;NM_001256166;U37547;U45879 AAC41942;AAC50372;AAC50508;AAH16174;AAH28578;AAY46158;ABM83310;ABM86522;BAG36235;BAG64288;EAW67018;NP_001157;NP_001243092;NP_001243095;Q13490 Hs.696238;Hs.731943 1650274;1682615;1711338;1775376;1792892;2106961;2125309;2158682 A002E11;BIRC2_7224;D11S4286;PMC166414P1;RH11632;RH98380;SHGC-84924;WI-18122 API1;HIAP2;Hiap-2;IAP-2;MIHB;RNF48;c-IAP1;cIAP1 IAP homolog B;NFR2-TRAF signalling complex protein;OTTHUMP00000235704;OTTHUMP00000235706;OTTHUMP00000235707;RING finger protein 48;TNFR2-TRAF-signaling complex protein 2;apoptosis inhibitor 1;baculoviral IAP repeat-containing 2;baculoviral IAP repeat-containing protein 2;inhibitor of apoptosis protein 2 APPROVED protein-coding ENSG00000110330 HGNC:590 03419 601712 REVIEWED 732624 BIRC3 baculoviral IAP repeat containing 3 This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011] 11 11 11 q22 99349739 99370012 + 102188181 102210134 + 102317450 102339403 + 1580863;1643526;6480464;6484113;6907045;7800730 17154176;23085193 10233894;10610122;10753917;10862606;10929712;11066071;11084335;11466612;11562359;11583623;11604410;11724934;11906213;11907583;11960389;12082024;12161039;12243753;12393423;12477932;12525502;12539042;12571250;12651604;12651874;12815069;12865429;12867425;12926068;14527959;14562112;14685266;14708638;14960576;15023888;15037009;15078890;15078891;15175157;15183896;15218035;15310755;15353805;15363040;15489334;15494311;15598810;15665297;15696476;15845643;15856013;15861135;15982633;16123224;16142363;16189514;16282325;16339151;16356540;16395399;16395405;16467195;16510124;16701639;16761316;16775419;16799641;16813569;16891304;16983704;16984419;17069460;17133355;17179183;17613533;17626072;17927572;17972100;17993464;18195037;18216531;18508827;18566024;18570872;18621737;18676680;18768389;18775313;18784070;18931663;18939944;18953427;19011619;19029953;19060847;19170196;19223549;19234489;19243308;19302291;19336370;19358671;19416853;19464198;19625176;19690564;19692168;19698783;19763917;19810754;19815541;19913121;19923725;20063052;20078866;20079017;20097753;20237496;20385093;20447407;20453000;20547836;20562859;20576118;20628086;20691152;20855536;20863547;20940148;20957035;20959404;21048031;21113135;21116278;21152357;21229359;21273489;21331077;21393245;21628460;21653699;21795072;21817100;21849505;21865390;21869827;21881048;21890473;21931591;21963223;21988832;22068233;22083956;22195745;22403404;22434933;22493164;22607974;22820591;22902369;23032264;23052480;23243274;23250032;23259674;23364796;23453969;23524849;23535732;23543740;23558524;23612708;23770847;23867815;23871895;23918987;23972990;24008361;24008839;24194568;24266799;24371121;24425875;24464131;24552816;24633224;25015289;25065467;8548810;8552191;8643514;8938457;8943045;9384571;9545235;9642260;9705938;9892732 330 H0YCJ5;Q13489 AA805622;AA873008;ABBA01039935;ABBA01039936;AF070674;AF178945;AI880555;AMYH02025482;AP000942;AY764389;BC027485;BC037420;BE907592;BG569841;BQ718651;BU428906;BX415415;BX475964;CH471065;HI574220;HI574222;L43346;L49432;NM_001165;NM_182962;U37546;U45878 AAC41943;AAC50371;AAC50507;AAC83232;AAG09369;AAH37420;AAU88144;CBX47599;CBX47600;EAW67017;NP_001156;NP_892007;Q13489 Hs.127799 1694610;1722093;1792894;1793534;1857510;2138843;2164725;2183725 A007H38;G43312;G60088;PMC166414P2;PMC229255P1;RH79205;SGC33804;SHGC-31347 AIP1;API2;CIAP2;HAIP1;HIAP1;IAP-1;MALT2;MIHC;RNF49;c-IAP2 IAP homolog C;OTTHUMP00000235699;OTTHUMP00000235700;OTTHUMP00000235701;RING finger protein 49;TNFR2-TRAF signaling complex protein;TNFR2-TRAF-signaling complex protein 1;apoptosis inhibitor 2;baculoviral IAP repeat-containing 3;baculoviral IAP repeat-containing protein 3;inhibitor of apoptosis protein 1;mammalian IAP homolog C APPROVED protein-coding ENSG00000023445 HGNC:591 03426 601721 REVIEWED 737482 BIRC5 baculoviral IAP repeat containing 5 This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 17 17 17 q25 72806306 72817744 + 76210277 76221716 + 78214196 78225635 + 1580863;2293092;2293101;2293104;2293122;2293138;2293090;2293102;2293108;2293137;2293106;2293125;2293136;2293094;2293096;2293097;2293105;2293126;2293098;2293131;2293135;2293100;2293103;2293109;2293129;2293139;2293091;2298935;2298940;2298936;2298937;2298939;2293093;2293095;2293099;6480464;6907045;9586043;9479074;8554872 11150435;12115583;12604914;12854136;15081314;15453988;16421596;16803539;17086357;17240580;17285241;17363528;17364499;17441339;17559031;17701349;17804712;17828507;17877643;17890889;17905101;17938867;18055328;18089718;18159002;18171606;18172282;18227733;18246794;18336887;18386577;18451232;18567002;19726343;23642229 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332 H3BLT4;K7ELG2;K7EMW2;K7EP76;O15392 AB028869;AB154416;ABBA01002938;AC087645;AF077350;AI800528;AK223428;AK301793;AK311917;AL519719;AL547142;AMYH02034050;AY795969;AY830084;AY927772;BC000784;BC008718;BC034148;BC065497;BE537971;BG178974;BG759111;BI254058;BI520186;BM476145;BQ687404;CB112371;CH471099;CR541740;DQ227257;DQ310375;DQ310376;DQ310377;DQ310378;DQ310379;DQ508245;DQ508246;DQ508247;DQ508248;DQ508249;HM625836;JA362594;NG_029069;NM_001012270;NM_001012271;NM_001168;U75285;XR_243654 AAC51660;AAD34226;AAH08718;AAH34148;AAH65497;AAV40840;AAW22624;AAY15202;ABB76601;ABC42341;ABC42342;ABC42343;ABC42344;ABC42345;ABF60110;ABF60111;ABF60112;ABF60113;ABF60114;ADM26643;BAA93676;BAD11155;BAD97148;BAG34858;BAH13555;CAG46540;CAL38006;CCA94579;EAW89511;EAW89512;EAW89513;EAW89514;NP_001012270;NP_001012271;NP_001159;O15392 Hs.744872 1795222;5014051;5021872;5022651;5037552;5095949;5109362;5109559 BIRC5_44;D11S2921;D17S1239;D17S1443E;D8S2278;D8S2279;STS-L26245;sY3084 API4;EPR-1 apoptosis inhibitor 4;apoptosis inhibitor survivin;baculoviral IAP repeat-containing 5;baculoviral IAP repeat-containing protein 5;survivin variant 3 alpha APPROVED protein-coding ENSG00000089685 HGNC:593 04520 603352 REVIEWED 1316326 BIRC6 baculoviral IAP repeat containing 6 This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008] 2 2 2 p22.3 32426891 32688789 + 32581735 32843966 + 32356667 32618899 + 1580863;1580055;6480464;6907045;8554872 15457181 10544019;10574462;12168954;12477932;14702039;14765125;15200957;15300255;15314180;15507451;15781261;16196087;18329369;18414036;18654987;19223905;19946888;20800603;20819778;20957035;21139048;21542283;21788403;21890473;21906983;21963094;21987572;22027771;22053931;22085301;22113938;22505724;22553342;22586326;22788920;22863883;23000965;23287853;24255178;24302728;24453032;24816145;25015289;7566098;8889548;9628897 57448 H7C094;H7C3P0;Q9NR09 AA315620;AB033115;ABBA01074887;ABBA01074888;ABBA01074889;ABBA01074890;ABBA01074891;ABBA01074892;ABBA01074893;ABBA01074894;ABBA01074895;AC079837;AF265555;AK023788;AK023848;AL133243;AL133245;AL133246;AMYH02003547;AMYH02003548;AMYH02003549;AMYH02003550;AMYH02003551;AMYH02003552;AMYH02003553;AMYH02003554;BM674459;BX345326;BX371410;BX411219;CA418956;CH471053;KF456646;KF456651;KF456652;KF456654;KF456655;KF456656;KF456657;KF456658;KF456659;KF456660;KF510809;NM_016252;XM_005264449;XM_005264450;XM_005264451;XM_005264452;XM_005264453;XM_005264454;XM_005264455;XM_006712054;XM_006712055;XM_006712056;XM_006712057;XR_244950 AAF75772;BAA86603;BAB14679;BAB14700;EAX00443;EAX00444;EAX00445;EAX00446;EAX00447;NP_057336;Q9NR09;XP_005264506;XP_005264507;XP_005264508;XP_005264509;XP_005264510;XP_005264511;XP_005264512;XP_006712117;XP_006712118;XP_006712119;XP_006712120 Hs.150107 1685876;1686682;1693598;1700920;1713255;1718041;1739029;1778161;1792898;1847475;1853188 A004S04;D2S1883;PMC166414P4;RH104087;RH120618;RH122637;RH81018;RH99067;SHGC-37671;SHGC-58506;STS-AA018958 FLJ13726;FLJ13786;KIAA1289 APOLLON;BIR repeat-containing ubiquitin-conjugating enzyme;BRUCE;OTTHUMP00000197747;baculoviral IAP repeat-containing 6;baculoviral IAP repeat-containing protein 6;ubiquitin-conjugating BIR domain enzyme apollon;ubiquitin-conjugating BIR-domain enzyme apollon APPROVED protein-coding ENSG00000115760 HGNC:13516 05731 605638 REVIEWED 6769738 BIRC6-AS1 BIRC6 antisense RNA 1 p22.3 22196729 100874009 AL133245;BG572630 pal3 APPROVED ncrna HGNC:40641 9068615 BIRC6-AS2 BIRC6 antisense RNA 2 p22.3 22196729 103752586 BX093813;NR_125793 Hs.666092 linc-birc6;megamind ncrna HGNC:50490 VALIDATED 1345581 BIRC7 baculoviral IAP repeat containing 7 This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013] 20 20 20 q13.3 58544759 58549338 + 61867235 61871859 + 63235883 63240507 + 1580863;6480464 11024045;11084335;11162435;11322947;11780052;11801603;11865055;12477932;12488298;12620238;12975309;14614456;15009721;15489334;15541814;16026775;16437214;16729033;16806840;16840203;16965834;16990595;17035597;17294084;17437058;17519534;17613533;17632732;17672950;17968430;18031611;18034418;18210873;18278467;18315896;18451137;18476630;18515985;18555709;18827979;18837095;19074843;19397802;19549727;19549891;19635196;19690982;19724862;19806913;19914791;20109966;20237496;20388502;20416174;20460713;20584688;20607788;20691667;20717925;21113135;21122381;21617971;21700335;21867610;21867615;22033581;22086237;22427141;22711539;22766624;22902369;22930255;22931613;22932199;22938441;23029054;23030305;23069480;23188704;23343959;23404657;23480510;23524337;23563149;23632777;23781587;23906305;24008725;24023847;24220265;24287698;24295240;25090821;8889548 79444 A8MTF4;Q96CA5 ABBA01021393;AF301009;AF311388;AJ309298;AL121827;AMYH02037451;AY358835;AY358836;AY517497;BC014475;BU737800;CH471077;NG_029552;NM_022161;NM_139317 AAG33622;AAG37878;AAH14475;AAQ89194;AAQ89195;AAS01729;ABM84003;ABM87337;CAC37337;CAC37338;EAW75302;EAW75303;EAW75304;NP_071444;NP_647478;Q96CA5 Hs.256126 KIAP;ML-IAP;RNF50 LIVIN;MLIAP;OTTHUMP00000031536;OTTHUMP00000031537;OTTHUMP00000031538;RING finger protein 50;baculoviral IAP repeat-containing 7;baculoviral IAP repeat-containing protein 7;kidney inhibitor of apoptosis protein;livin inhibitor of apoptosis;livin inhibitor-of-apoptosis;melanoma inhibitor of apoptosis protein APPROVED protein-coding ENSG00000101197 HGNC:13702 05761 605737 REVIEWED 1349757 BIRC8 baculoviral IAP repeat containing 8 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN apoptotic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH capsaicin; doxorubicin; paraquat 19 19 19 50834544 50836565 - 53792854 53794875 - 53289601 53291622 - 6480464;8554872 11390657;11597143;12372615;12477932;15485395;16344560;19549727;19690564;20800603;21110914;24266799 112401 Q6PIA0;Q96P09 ABBA01068217;AC092070;AF164682;AF420440;AMYH02036424;BC039318;BC046168;BC056914;BC071665;DB052483;HC006788;HC044547;NM_033341 AAH39318;AAH71665;AAK81892;AAL30369;CBH19200;CBH30603;NP_203127;Q96P09 Hs.348263 1794998;1795000 PMC87089P1;PMC87089P2 ILP-2;ILP2;hILP2 IAP-like protein 2;baculoviral IAP repeat-containing 8;baculoviral IAP repeat-containing protein 8;inhibitor of apoptosis-like protein 2;testis-specific inhibitor of apoptosis APPROVED protein-coding ENSG00000163098 HGNC:14878 12525 VALIDATED 1323580 BIVM basic, immunoglobulin-like variable motif containing FOUND IN extracellular space; INTERACTS WITH 17beta-estradiol; copper atom; copper(0) 13 13 13 q33.1 84295880 84338368 + 103451399 103493888 + 102799049 102841538 + 6480464 11991713;12036287;12477932;14702039;19322201;19416867;19773279;8125298 54841 Q86UB2 ABBA01027069;ABBA01027070;AF147319;AF339783;AF339793;AF411385;AK000166;AK126285;AK126520;AK225229;AK290658;AK304391;AL157769;AMYH02028627;BC020663;BC039587;BC051813;BC075084;BC075085;BC112339;CH471085;GD145579;NM_001159596;NM_017693 AAH51813;AAH75084;AAH75085;AAI12340;AAM45761;BAA90986;BAF83347;BAG65226;EAX09070;NP_001153068;NP_060163;Q86UB2 Hs.288809 1737481;2111624;2135366;2136146;2179901;2218310;5014051;5037552 BIVM_4448;D13S1028;D13S1560;D8S2278;D8S2279;RH46417;RH66234;WI-5740 FLJ44301;FLJ44556;MGC133326 OTTHUMP00000018676;basic immunoglobulin-like variable motif-containing protein protein-coding ENSG00000134897 HGNC:16034 09827 VALIDATED 7243590 BIVM-ERCC5 BIVM-ERCC5 readthrough This locus represents naturally occurring read-through transcription between the neighboring BIVM (basic, immunoglobulin-like variable motif containing) and ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5) genes on chromosome 13. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Feb 2011] 13 13 q 103459496 103528351 + 102807146 102876001 + 6480464;8554872 20967262;21890473;21963094;23000965 100533467 Q59FZ7;R4GMW8 AB209312;ABBA01027069;AL157769;AMYH02028627;LM994822;NM_001204425 BAD92549;CDY80175;NP_001191354 Hs.258429 1725573;1744719;1788296;1793264;2143820;2152163 G62084;G67467;GDB:554884;PMC20331P2;RH71360;STS-X69978 ERCC5-202 protein-coding ENSG00000270181 HGNC:43690 REVIEWED 7245155 BLACAT1 bladder cancer associated transcript 1 (non-protein coding) 1 1 q32.1 205404014 205425214 - 205434886 205456086 - 14702039;16344560;23688781 101669762 ABBA01027415;AC098936;AK022594;AMYH02002547;BX640973;DA234729;DA703157;NR_103783 Hs.666219 1680471 RH93942 LINC00912;linc-UBC1 ncrna HGNC:48597 615480 VALIDATED 1344292 BLACE B-cell acute lymphoblastic leukemia expressed 7 7 q36 155149683 155160628 - 155356988 155367933 - 12690205;14667812 338436 A4D250 ABBA01032398;AC142169;AMYH02017133;AMYH02017134;AY166699;CH236954;NR_103545 A4D250;EAL23907 Hs.521326 1769359;1779882 D7S61;SHGC-153883 FLACE ncrna ENSG00000204960 HGNC:20484 608450 PREDICTED 1347383 BLCAP bladder cancer associated protein This gene encodes a tumor suppressor protein that reduces cell growth by stimulating apoptosis. The first intron of this gene contains the neuronatin gene, which is imprinted and only expressed from the paternal allele. This gene is imprinted in brain where it is differentially expressed from different promoters. Transcription from the upstream promoter occurs preferentially on the maternal allele, and transcripts are preferentially expressed from the downstream promoter on the paternal allele. Alternative promoters and alternative splicing result in multiple transcript variants that encode the same protein.[provided by RefSeq, Nov 2009] 20 20 20 q11.23 32853082 32863596 - 36145819 36156333 - 37517417 37527931 - 634549;6480464 10197429 11780052;12477932;14702039;15342556;15489334;16303743;16344560;16675915;16712791;17031575;18836209;19322201;19783793;19908260;23049907 10904 A2A2K8;A2A2K9;P62952 AA780553;ABBA01006621;AF053470;AI920860;AK074498;AK124822;AL049288;AL109614;AMYH02037048;AMYH02037049;BC047692;BC071704;BP293276;CB155706;CH471077;DA198124;DA262965;DA632207;DA943717;NM_001167820;NM_001167821;NM_001167822;NM_001167823;NM_006698 AAC06370;AAH47692;AAH71704;EAW76056;NP_001161292;NP_001161293;NP_001161294;NP_001161295;NP_006689;P62952 Hs.472651 1652539;1685327;1740069;1768334;1768336;2108313;2128911;2133420;2137808;2179571;2185942;7186170 A002D19;D20S1120;D20S125E;D20S530E;D20S769;G19955;NNAT_8167;RH27937;RH79915;WI-19586;WI-21755 BC10 OTTHUMP00000030932;OTTHUMP00000178816;OTTHUMP00000178817;OTTHUMP00000178818;OTTHUMP00000178819;OTTHUMP00000178820;OTTHUMP00000178821;OTTHUMP00000178823;bladder cancer 10 kDa protein;bladder cancer related protein (10kD);bladder cancer-associated protein APPROVED protein-coding ENSG00000166619 HGNC:1055 16552 613110 REVIEWED 1606631 BLID BH3-like motif containing, cell death inducer This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011] 11 11 11 q24.1 119146742 119147603 - 121986062 121986923 - 122115354 122116215 - 6480464 12477932;15069058;18940476;19779542;20400521;20544842;20838585;21031016;21846966;23928696;24532431 414899 Q8IZY5 ABBA01031297;AF303179;AMYH02025697;AP001924;BC130361;BC130363;NM_001001786 AAI30362;AAI30364;AAN31127;ADR83464;NP_001001786;Q8IZY5 Hs.686109 BRCC2;MGC163233;MGC163235 BH3-like motif-containing cell death inducer;OTTHUMP00000231802;breast cancer cell 2;breast cancer cell protein 2 APPROVED protein-coding ENSG00000259571 HGNC:33495 16392 608853 REVIEWED 1318874 BLK BLK proto-oncogene, Src family tyrosine kinase This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010] 8 8 8 p23-p22 10480897 10551454 + 11351521 11422108 + 11494012 11564599 + 1580863;2316189;1642307;6480464;6484113;7240710;8554872;8699517 17562528;19180478 10449731;11896452;12406557;12477932;14970218;16273093;18067320;18204098;18854154;19165918;19225526;19351960;19503088;19644876;19667185;19740902;19796918;19838193;19953087;20130895;20131239;20131273;20156505;20453440;20881011;20962850;21068098;21152986;21408207;21452313;21978998;22003931;22313735;22446961;22446962;22610502;22678060;22696686;22740142;22748822;22797726;22939624;23053960;23224494;23273568;23555801;23646104;23740937;23899688;24023612;24024966;2404338;24085759;24390342;24702955;7592787;7592958;7822795;7845672;8083187;8395016;8621719;8636124;8756631;876631;9177269;9525867 640 E9PJX5;P51451;Q05D26 ABBA01026878;ABBA01026879;AC022239;AF131216;AK313751;AL832875;AMYH02017439;BC004473;BC007371;BC018703;BC032413;BC038555;BQ057058;CH471157;KF458689;NG_023543;NM_001715;S76617;XM_005272390;XM_006716250;XM_006716251;XM_006716252;Z33998 AAB33265;AAH07371;AAH18703;AAH32413;BAG36491;CAA83965;EAW65617;EAW65618;NP_001706;P51451;XP_005272447;XP_006716313;XP_006716314;XP_006716315 Hs.146591 1338349;1707944;1722827;5117316 D8S1695;G60355;GDB:462442;SHGC-82225 MGC10442;MODY11 B lymphoid tyrosine kinase;BLK nonreceptor tyrosine kinase;OTTHUMP00000115909;OTTHUMP00000229490;b lymphocyte kinase;p55-Blk;tyrosine-protein kinase Blk APPROVED protein-coding ENSG00000136573 HGNC:1057 01866 191305;613375 REVIEWED 1318795 BLM Bloom syndrome, RecQ helicase-like The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008] 15 15 15 q26.1 67669191 67767281 + 91260579 91358686 + 90717327 90815462 + 1580056;1580057;1580863;1599420;6480464;6907045;7240710;8554872;8699517;8662366 10779560;10825162;20690856;9388480 10359700;10728666;10734115;10783165;10823897;10851073;10862105;10871376;11278509;11309417;11325959;11399766;11406610;11433031;11470874;11472631;11500040;11532193;11691925;11716541;11741924;11781842;11790298;11876000;11877377;11916980;11919194;11950880;11960380;12019152;12034743;12080066;12181313;12242432;12433984;12444098;12477932;12606585;12702560;12724401;12818200;12826610;12973351;12974384;12975363;14517203;14576316;14685245;14688284;14729972;15064730;15143166;1518822;15229185;15231747;15257300;15289897;15302935;15342556;15364958;15489334;15509577;15539948;15579905;15604258;15616572;15635413;15726604;15750625;15775963;15805243;15806145;15829507;15845538;15959913;15965237;15990871;16030011;16116422;16199871;16326861;16344560;16412221;16524884;16537486;16565220;16595695;16620772;16766518;16864798;16876111;16880735;16964243;17115688;17407155;17457718;17500065;17591918;17599064;17603497;17634426;17728255;17855454;17878217;17943968;17961633;17984114;18003860;18029348;18054789;18264947;18270339;18278455;18390547;18401830;18448429;18471088;18562274;18676680;18682526;18708356;18971343;18974064;18978339;19015241;19109166;19165145;19170196;19205873;19237606;19329795;19432957;19442250;19465921;19471022;19500012;19542097;19573080;19578796;19625176;19632996;19661064;19671661;19692168;19714462;19734539;19773279;19913121;19917125;19935873;19945966;19956565;20064461;20154148;20211839;20215422;20237496;20301471;20301572;20347428;20347429;20360068;20445207;20447876;20628086;20639533;20719863;20739603;20800603;20813000;21111748;21113733;21123383;21129251;21139048;21145461;21240188;21300576;21325134;21567087;21693764;21712816;21736299;21743438;21815139;22106380;22253018;22272300;22356911;22544709;22563370;22586326;22705371;22989712;23028338;23084401;23129629;23225144;23253856;23261817;23268311;23322570;23404160;23509288;23572515;23708797;24095737;24096176;24108125;24239288;24332808;24816145;24958861;7585968;8022833;9285778;9388193;9671747 641 B7ZKN7;H0YLV8;H0YNU5;P54132 ABBA01053065;ABBA01053066;ABBA01053067;ABBA01053068;AC021422;AC124248;AK295194;AK303159;AK314262;AMYH02031048;AMYH02031049;AMYH02031050;AMYH02031051;AMYH02031052;AY886902;BC034480;BC062697;BC093622;BC101567;BC107423;BC115028;BC115029;BC115030;BC115031;BC115032;BC143280;BC143288;BP363946;CD707743;CH471101;DA122319;DB520927;KF511223;NG_007272;NM_000057;NM_001287246;NM_001287247;NM_001287248;U39817;XM_006720632 AAA87850;AAH93622;AAI01568;AAI07424;AAI15031;AAI15033;AAI43281;AAW62255;BAG36927;BAH12008;BAH13907;EAX02107;EAX02108;NP_000048;NP_001274175;NP_001274176;NP_001274177;P54132;XP_006720695 Hs.725208 1671023;1740563;1740605;1740607;2122964;2123025;2161305;2169575 A008V47;D15S1129;D15S1144;D15S1145;D15S834;RH18053;STS-T99721;WI-16966 BS;MGC126616;MGC131618;MGC131620;RECQ2;RECQL2;RECQL3 Bloom syndrome protein;DNA helicase, RecQ-like type 2;OTTHUMP00000194750;recQ protein-like 3 APPROVED protein-coding ENSG00000197299 HGNC:1058 05211 210900;604610 REVIEWED 1312244 BLMH bleomycin hydrolase Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 25436850 25480700 - 28575213 28619184 - 30248195 30292166 - 1580058;1580059;1580863;6480464;7240710;8554872 14732230;16105758 10335922;10353821;10404591;10686410;10973933;11099722;11350084;11436125;12082022;12477932;12604387;15489334;15900213;16169070;16189514;17854420;18029348;18082847;18398146;19056867;19615732;20198498;20301340;20360068;21139048;21145461;21163940;21190945;21310951;21693764;21890473;21900206;21906983;21943823;21963094;22037625;22505724;22863883;23000965;23708668;24657165;24816145;8125298;8620487;8639621;9331073;9407121;9485374;9500538;9546396;9855622 642 J3KS79;J3KSD8;K7EMJ3;K7ENH5;K7ES02;K7ESE8;Q13867 ABBA01015001;ABBA01015002;AC087644;AC104984;AF091082;AI283058;AK223403;AK301948;AK312896;AMYH02033271;BC003616;BG471412;BT007018;CH471159;DC346179;NG_011440;NM_000386;X92106 AAC72951;AAH03616;AAP35664;BAD97123;BAG35743;BAG63365;CAA63078;EAW51224;NP_000377;Q13867 Hs.371914 1660545;1687049;1749879;1783462;2127178;2219032 BLMH__4450;RH45325;RH91724;SHGC-111440;SHGC-111606;SHGC-24274 BH;BMH BLM hydrolase APPROVED protein-coding ENSG00000108578 HGNC:1059 03870 104300;602403 REVIEWED 1347273 BLNK B-cell linker This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] 10 10 10 q23.2-q23.33 91692656 91772534 - 97951455 98031333 - 96191699 96271576 - 1600518;6480464;6484113;6907045;7240710;8699517;8554872 10583958 10498607;10556826;10684856;10820378;10903736;10981967;11071869;11274146;11356834;11449366;11487585;11489945;11514608;11909947;12093870;12176364;12456653;12477932;12496419;12514734;12761551;12773374;14702039;15087455;15270728;15489334;15588985;15744341;16273093;16341674;16344560;16356554;16385451;16568084;16636677;16912232;16969585;17681949;18022864;19018766;19218240;19372136;19641626;20237496;20379614;21048031;21482705;21822214;22262777;22689681;24166973;8125298;9341187;9697839;9705962 29760 F5GXS1;K7EKR2;Q2MD47;Q2MD54;Q2MD59;Q8WV28 ABBA01021830;ABBA01021831;AC021037;AF068180;AF068181;AF180756;AI307343;AK027779;AK225546;AL391057;AM180327;AM180328;AM180329;AM180330;AM180331;AM180332;AM180333;AM180334;AM180335;AM180336;AM180337;AM180338;AM180339;AM180340;AM180341;AM180342;AM180343;AM180344;AM180345;AM180346;AMYH02023584;AMYH02023585;AMYH02023586;BC018906;BC110298;BF975580;BM820310;BU597768;CH471066;DA045252;KF455281;KF573679;NG_007575;NM_001114094;NM_001258440;NM_001258441;NM_001258442;NM_013314;NR_047680;NR_047681;NR_047682;NR_047683 AAC39936;AAC39937;AAF20382;AAF20383;AAH18906;BAG51377;CAJ55321;CAJ55322;CAJ55323;CAJ55324;CAJ55325;CAJ55326;CAJ55327;CAJ55328;CAJ55329;CAJ55330;CAJ55331;CAJ55332;CAJ55333;CAJ55334;CAJ55335;CAJ55336;CAJ55337;CAJ55338;CAJ55339;CAJ55340;EAW49980;EAW49981;NP_001107566;NP_001245369;NP_001245370;NP_001245371;NP_037446;Q8WV28 Hs.665244 1656818;1699806;1765049 D10S1562;RH103510;SHGC-148592 AGM4;BASH;BLNK-S;LY57;MGC111051;SLP-65;SLP65;bca B cell adaptor containing SH2 domain;B cell linker protein;B-cell activation;B-cell adapter containing a SH2 domain protein;B-cell adapter containing a Src homology 2 domain protein;B-cell linker protein;OTTHUMP00000020167;OTTHUMP00000020168;Src homology 2 domain-containing leukocyte protein of 65 kDa;Src homology [SH2] domain-containing leukocyte protein of 65 kD;cytoplasmic adapter protein APPROVED protein-coding ENSG00000095585 HGNC:14211 05153 604515;613502 REVIEWED 1316833 BLOC1S1 biogenesis of lysosomal organelles complex-1, subunit 1 BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008] 12 12 12 q13-q14 55762291 55765956 + 56109818 56113491 + 55716034 55719707 + 1580863;6480464 10611234;10747963;11031247;11252894;12477932;12639951;14667819;14702039;15102850;15146197;16169070;16344560;17618940;19246570;20877624;21832049;21890473;21906983;22309213;22423091;22505724;22554196;23676666;24816145;8646881;8770567;9674425 2647 F8VP73;F8W606;G8JLQ3;H0YHA4;P78537 ABBA01008384;AC009779;AI673441;AI816035;AK307069;AMYH02026548;BC066340;BC130640;BC132795;BQ899204;BU601406;CH471054;CN263524;D64007;DA243440;DA864590;NG_008606;NM_001487;NR_037655;NR_037656;NR_037657;S82447 AAB37682;AAI30641;AAI32796;BAA10887;EAW96824;NP_001478;P78537 Hs.600940;Hs.94672 BLOS1;FLJ39337;FLJ97089;GCN5L1;MGC87455;RT14 BLOC subunit 1;BLOC-1 subunit 1;GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1;GCN5 general control of amino-acid synthesis 5-like 1;GCN5-like protein 1;MICoA;MTA1-interacting coactivator;OTTHUMP00000242529;OTTHUMP00000242530;OTTHUMP00000242994;biogenesis of lysosome-related organelles complex 1 subunit 1;biogenesis of lysosome-related organelles complex-1, subunit 1 APPROVED protein-coding ENSG00000135441 HGNC:4200 03263 601444 VALIDATED 1315231 BLOC1S2 biogenesis of lysosomal organelles complex-1, subunit 2 This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 10 10 10 q24.31 95771676 95784317 - 102033035 102046469 - 100273278 100286712 - 2302154;6480464 16176350 11483580;12191018;12477932;12576321;12923531;14702039;15102850;15146197;15164054;15381421;15489334;16344560;16712791;18188704;18329849;19083121;19615732;20308062;21139048;21697133;21832049;21900206;23974797;24250222;8889548 282991 F1T0F0;J3QRU7;Q6QNY1 AB593084;ABBA01063228;ABBA01063229;AK054697;AK298969;AL138921;AL139819;AMYH02023651;AY278457;AY531265;BC020494;BF666010;BG545838;BG679165;BI753469;BU608851;BU740315;BX112121;CB118026;CB218039;CH471066;CN340962;DB296446;DB456773;HY107885;HY165508;NM_001001342;NM_001282436;NM_001282437;NM_001282438;NM_001282439;NM_173809 AAH20494;AAQ19606;AAT00461;BAG61064;BAJ84024;EAW49835;EAW49836;EAW49837;NP_001001342;NP_001269365;NP_001269366;NP_001269367;NP_001269368;NP_776170;Q6QNY1 Hs.34906;Hs.715064 2167444;2175233;2184379;2219034;5015619;5015961;5024039;5037552 BLOC1S2__4451;D11S3114;D15S1477;D16S325;D8S2279;RH45831;RH47426;SHGC-34558 BLOS2;CEAP;CEAP11;FLJ30135;MGC10120;RP11-316M21.4 11 kDa centrosome associated protein;BLOC-1 subunit 2;OTTHUMP00000020281;OTTHUMP00000020282;biogenesis of lysosome-related organelles complex 1 subunit 2;biogenesis of lysosome-related organelles complex-1, subunit 2;centrosomal 10 kDa protein;centrosome protein oncogene;centrosome-associated protein APPROVED protein-coding ENSG00000196072 HGNC:20984 12526 609768 VALIDATED 1321173 BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 42486265 42489320 + 45682003 45685058 + 45178745 45181800 + 6480464;8699517;7240710;8554872 11031247;11252894;12191018;12477932;12576321;12923531;15102850;16385460;17081983;17182842;19197348;20301464;20460622 388552 K7EN58;Q6QNY0 ABBA01040912;AC005757;AC005779;AK130151;AK130186;AK296695;AMYH02036192;AY531266;BC151151;BC151152;BU616355;DC422050;DN996082;NG_008372;NG_033044;NM_212550 AAI51152;AAI51153;AAT00462;BAC85300;BAG59289;NP_997715;Q6QNY0 Hs.103902 1851787;5015961 D15S1477;RH48388 BLOS3;FLJ26641;FLJ26676;HPS8;RP BLOC-1 subunit 3;biogenesis of lysosome-related organelles complex 1 subunit 3;biogenesis of lysosome-related organelles complex-1, subunit 3;reduced pigmentation, mouse, homolog of APPROVED protein-coding ENSG00000189114 HGNC:20914 12527 609762;614077 REVIEWED 1602324 BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 6619850 6621391 + 6717842 6719387 + 6716115 6717660 + 6480464 11031247;11110696;11252894;12191018;12477932;12576321;12923531;14702039;15102850;15489334;21900206;22203954;24250222 55330 Q9NUP1 ABBA01012727;AC093323;AF085849;AI679712;AK002092;AMYH02008671;BC001818;BC009890;BC067815;CH471131;NM_018366 AAH67815;BAA92080;EAW82382;NP_060836;Q9NUP1 Hs.7570 1648236;1652248 SHGC-32908;SHGC-67821 BCAS4L;BLOS4;CNO;FLJ11230 BLOC-1 subunit 4;OTTHUMP00000155165;biogenesis of lysosome-related organelles complex 1 subunit 4;cappuccino homolog APPROVED protein-coding ENSG00000186222 HGNC:24206 12035 605695 REVIEWED 1315693 BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010] 6 6 6 p25.1-p24.3 9243487 9293945 - 8013800 8064647 - 8013567 8064414 - 6480464;8554872 11912185;12019270;12191018;12477932;12576321;12923531;14574404;15102850;15489334;16341674;16344560;17182842;17618940;19615732;20562859;21044367;21145461;21832049;24250222;24816145 63915 G5E931;Q8TDH9 AA653396;ABBA01022052;ABBA01022053;AF426434;AK025442;AK301142;AK311385;AL023694;AL096800;AMYH02013065;AMYH02013066;BC032438;BC119644;BC119645;BM829259;BX647336;CH471087;CR749569;DA635930;NM_001199322;NM_001199323;NM_201280 AAH32438;AAI19645;AAI19646;AAL99385;BAG62734;CAH18364;EAW55225;NP_001186251;NP_001186252;NP_958437;Q8TDH9 Hs.719272 1339010;1661550;1685445 D6S1674;RH48250;RH94181 BLOS5;DKFZp686E2287;FLJ18427;MU BLOC-1 subunit 5;MUTED;OTTHUMP00000016007;OTTHUMP00000212220;biogenesis of lysosome-related organelles complex 1 subunit 5;muted homolog APPROVED protein-coding ENSG00000188428 HGNC:18561 06289 607289 REVIEWED 5133076 BLOC1S5-TXNDC5 BLOC1S5-TXNDC5 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring MUTED (muted homolog) and TXNDC5 (thioredoxin domain containing 5) genes on chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 6 6 p 7881483 8064647 - 7881250 8064414 - 6480464;8554872 11181995;12477932;20967262;23870195 100526836 H3BN57 ABBA01022048;ABBA01022049;ABBA01022050;ABBA01022051;ABBA01022052;ABBA01022053;AL023694;AL096800;AL133541;AMYH02013063;AMYH02013064;AMYH02013065;AMYH02013066;BC052310;CH471087;NR_037616 AAH52310;EAW55223 Hs.150837 1649676;1654410 A002L04;WI-13193 FLJ21789;MGC59718;MUTED-TXNDC5 APPROVED ncrna ENSG00000259040 HGNC:42001 VALIDATED 1320975 BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 15 15 15 q21.1 22770564 22793057 + 45879417 45901909 + 45587219 45609711 + 1580863;6480464;8699517;7240710;8554872 10610180;11031247;11252894;11936273;12019270;12191018;12477932;12576321;12923531;14702039;15102850;15489334;16169070;16189514;17182842;19322201;19546860;20301464;20936779;21832049;21988832;23750231;24722188;2968981;8608138;8619474;8986625;9110174 26258 B3KY40;H3BML5;H3BMT8;H3BN13;H3BN73;H3BNE3;H3BPR6;H3BR42;H3BRA4;H3BST1;H3BU57;Q9UL45 ABBA01039176;AC090527;AF080470;AF131859;AK057545;AK128626;AK315581;AMYH02030359;BC004819;BC026289;CH471082;NG_028194;NM_012388 AAF08343;AAH04819;ADZ15783;BAG37954;BAG54702;EAW77330;NP_036520;Q9UL45 Hs.7037 1655172;1771238;1798000;1855975;2177342;5022578;5037552 D15S1094;D1S1423;D8S2279;HUMHM01F10;PLD3_2311;RH11270;STS-N35229 BLOS6;HPS9;PA;PLDN BLOC-1 subunit 6;OTTHUMP00000162199;PALLID;biogenesis of lysosomal organelles complex-1, subunit 5, pallidin;biogenesis of lysosome-related organelles complex 1 subunit 6;pallid protein homolog;pallidin;pallidin homolog;syntaxin 13 binding protein 1;syntaxin 13-interacting protein pallid APPROVED protein-coding ENSG00000104164 HGNC:8549 16055 604310;614171 REVIEWED 733010 BLVRA biliverdin reductase A The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011] 7 7 7 p13 43788116 43836787 + 43798272 43846941 + 43758673 43807342 + 1580863;6480464;6907045;8699517;7240710;8554872 10858451;12456881;12477932;12853948;12909459;14988408;15489334;15741166;17227757;17402939;18463290;19056867;19238116;19243019;19471022;19580635;19690164;20177069;20410444;20430037;20485444;20526373;21099244;21110914;21139048;21241799;21278388;21483094;21721974;21890473;21906983;22776971;23000965;23536765;24060811;24113378;24222129;25027693;7929092;8424666;8631357;8889548;8950184 644 C9J1E1;P53004 ABBA01058193;ABBA01058194;ABBA01058195;AC004939;AC004985;AC005189;AK291862;AMYH02015611;AMYH02015612;AY616754;BC005902;BC008456;BM710258;CA418616;CH236951;CH471073;NG_031876;NM_000712;NM_001253823;U34877;X93086 AAC35588;AAD05025;AAH05902;AAH08456;AAP21879;AAT11126;BAF84551;CAA63635;EAW94171;NP_000703;NP_001240752;P53004 Hs.488143 1653693;1653695;1660596;1687840;2130614;2130616;2142584;2142968;2166200;5124986 A006I27;G20849;GDB:444063;RH47289;RH69251;RH79646;SGC34648;SGC34667;STS-D51504;STS-U34877 BLVR;BVR;BVR A;BVRA OTTHUMP00000159196;OTTHUMP00000207534;biliverdin-IX alpha-reductase APPROVED protein-coding ENSG00000106605 HGNC:1062 11229 109750;614156 REVIEWED 1314490 BLVRB biliverdin reductase B (flavin reductase (NADPH)) The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009] 19 19 19 q13.1-q13.2 37753251 37771296 - 40953691 40971725 - 40447784 40465818 - 1580863;6480464;6907045 11224564;12477932;12626517;1286669;12909459;15489334;18029348;18241201;19027726;19056867;21890473;21906983;21988832;22939629;23000965;24654937;7656592;7929092;8117274;8280170;8313871;8687377;8799475 645 M0QZL1;M0R192;P30043;V9HWI1 ABBA01040760;ABBA01040761;ABBA01040762;ABBA01040763;ABBA01040764;AC010271;AC020929;AK312137;AMYH02036115;AY340485;BC109371;BG340491;BU528444;CH471126;D26308;D32143;EU794593;NM_000713 AAI09372;AAP88933;ACJ13647;BAA05370;BAA06874;BAG35073;EAW56969;EAW56970;EAW56971;EAW56972;NP_000704;P30043 Hs.515785 1649879;2118192;2122176;2140288 A009D36;RH16416;RH46045;SHGC-33106 BVR-B;BVRB;FLR;FR;GHBP;HEL-S-10;MGC117413;SDR43U1 NADPH-dependent diaphorase;NADPH-flavin reductase;biliverdin-IX beta-reductase;epididymis secretory protein Li 10;flavin reductase;flavin reductase (NADPH);green heme-binding protein;short chain dehydrogenase/reductase family 43U, member 1 APPROVED protein-coding ENSG00000090013 HGNC:1063 02967 600941 VALIDATED 1349052 BLZF1 basic leucine zipper nuclear factor 1 ENCODES a protein that exhibits enzyme binding; ubiquitin protein ligase binding; INVOLVED IN Golgi organization; Golgi to plasma membrane protein transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; arsenous acid; copper atom 1 1 1 q24 142446973 142475560 + 169337122 169365782 + 169367956 169396544 + 6480464;8554872 10602419;11056056;11739401;11739402;11739746;12477932;14702039;15489334;16710414;18029348;19064610;19536175;20211142;20398657;21478859;21906983;21963094;21988832;23455924;24722188;8125298;9129147;9442054;9823948 8548 Q5T532;Q5T534;Q9H2G9 ABBA01027952;ABBA01027953;AF272386;AF272387;AF272388;AF273875;AF288161;AF288162;AK055883;AK223533;AK291725;AK307151;AL021068;AL356852;AMYH02002112;BC020716;BI458959;BI460514;CH471067;NM_003666;U79751;XM_005245561 AAB63110;AAG37821;AAG37822;AAG37835;AAH20716;ABM82306;ABM85483;BAD97253;BAF84414;EAW90837;EAW90838;EAW90839;NP_003657;Q9H2G9;XP_005245618 Hs.130746 1646645;1656813;1677094;1700310;1770099;2109087;2162257;5022651 A007J25;BLZF1_8827;D11S2921;RH103775;RH16672;RH65485;RH92136;SHGC-32124 JEM-1;JEM-1s;JEM1;MGC22497 Golgin-45;JEM-1short protein;OTTHUMP00000033500;OTTHUMP00000033501;OTTHUMP00000033504;cytoplasmic protein;p45 basic leucine-zipper nuclear factor protein-coding ENSG00000117475 HGNC:1065 16367 608692 VALIDATED 1353512 BLZF2P basic leucine zipper nuclear factor 2 pseudogene 14 14 14 q24.1 49394258 49397701 - 69333375 69336827 - 68866658 68870110 - 317729 ABBA01023683;AL132986;AMYH02029427;NG_002462 pseudo HGNC:20049 INFERRED 1342866 BMF Bcl2 modifying factor The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 15 15 15 q14 17145999 17167002 - 40380091 40401088 - 40087890 40108887 - 737633;2314029;6480464 12477932;19641503 11214971;11546872;12591950;14561217;14574334;14702039;15342556;15489334;15694340;15721256;16260615;16484005;16697956;16712791;16830229;17207965;17360431;17557568;18354037;19267218;19300516;19641506;19671867;20706276;20819778;20861305;21533175;21673109;21988832;22327514;23192964;23824909;24292274 90427 H0YK50;H0YNT3;Q96LC9 ABBA01038460;AC021755;AI281003;AK024472;AMYH02030232;AY029254;AY222040;AY222041;BC060783;BC069328;BC069505;BC070043;BC104983;BC104985;BG744712;BP280415;BQ064116;CB108463;CH471125;HY090235;N41452;NM_001003940;NM_001003942;NM_001003943;NM_033503;XM_005254757;XM_005254760;XM_005254761;XM_005254762;XM_006720729;XM_006720730;XM_006720731;XM_006720732;XM_006720733;XM_006720734;XM_006720735 AAH60783;AAH69328;AAH69505;AAH70043;AAI04984;AAI04986;AAK38748;AAP22965;AAP22966;ADQ32892;BAB15762;EAW92393;NP_001003940;NP_001003942;NP_001003943;NP_277038;Q96LC9;XP_005254814;XP_005254817;XP_005254818;XP_005254819;XP_006720792;XP_006720793;XP_006720794;XP_006720795;XP_006720796;XP_006720797;XP_006720798 Hs.591104 1339484;1732131;2118588;2187635 D15S1280;D15S129;D15S214;UniSTS:71295 FLJ00065 OTTHUMP00000160316;bcl-2-modifying factor APPROVED protein-coding ENSG00000104081 HGNC:24132 05881 606266 REVIEWED 1348038 BMI1 BMI1 proto-oncogene, polycomb ring finger ENCODES a protein that exhibits RING-like zinc finger domain binding; zinc ion binding; INVOLVED IN hemopoiesis; negative regulation of transcription from RNA polymerase II promoter; positive regulation of fibroblast proliferation; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Carcinoma, Pancreatic Ductal; Colorectal Neoplasms; Leukemia, Myeloid, Acute; FOUND IN nucleus; PcG protein complex; PRC1 complex; INTERACTS WITH (S)-nicotine; 17beta-estradiol; 5-aza-2'-deoxycytidine 10 10 10 p11.23 22297715 22308139 + 22610139 22620414 + 22321210 22331485 + 1580058;1580059;6480464;9479058;9479060;9491843;8554872 14732230;16105758;19585519;23473600;25065329 10445843;10574711;10737800;10825164;11171983;12167161;12167701;12183370;12183433;12408802;12477932;12482919;12482990;12589020;12714971;12829790;14536079;15009096;15029199;15334543;15386022;15489334;15563468;15897469;15931389;16107895;16169070;16314526;16344560;16359901;16501599;16537449;16710298;16714294;16751658;16874656;16936260;16963837;16982619;17081983;17114435;17134822;17145810;17145814;17148583;17148591;17151361;17157253;17161394;17179983;17233832;17298744;17332741;17344414;17360938;17420273;17452456;17454639;17545584;17557835;17597110;17625597;17666329;17711569;17917742;17974970;17989714;18029348;18094618;18156489;18228133;18246051;18264721;18269588;18346113;18347933;18427816;18438345;18439910;18450386;18453536;18475299;18565849;18591938;18592462;18668134;18701473;18781299;18817867;18829528;19012049;19021148;19080002;19080003;19099625;19228380;19233177;19269851;19322201;19337376;19379548;19386347;19389366;19451220;19452584;19462008;19543317;19549727;19556423;19605626;19636380;19639171;19695678;19778799;19806792;19884659;19903340;19903841;19907431;19934271;19940551;19956605;19957112;20015867;20024662;20035051;20085590;20127006;20145620;20170541;20190806;20211142;20308890;20377880;20385206;20426791;20428793;20530672;20551323;20564407;20568112;20569464;20574517;20591222;20592341;20601937;20661663;20668194;20717685;20724541;20800574;20809956;20818389;20818602;20921134;21039844;21047978;21059209;21113618;21125401;21152871;21162745;21164364;21170084;21179169;21252986;21259057;21276135;21276221;21282530;21307872;21309753;21370603;21373837;21383063;21428211;21430439;21496667;21572997;21638011;21656027;21675959;21676867;21678481;21685941;21725369;21732356;21735131;21755556;21772249;21851624;21856782;21865393;21866458;21883379;21890473;21919891;21960247;21963094;21988832;21999765;22009787;22040961;22096526;22120066;22120721;22132147;22170051;22209830;22252887;22265735;22293918;22325352;22366984;22384090;22420951;22493164;22509111;22664532;22725270;22766604;22777769;22825250;22842564;22863087;22872929;22897849;22898137;22907436;22912356;22967049;22982443;22994774;23023333;23046527;23057360;23078618;23092893;23138990;23204235;23207902;23239878;23242307;23255074;23308129;23383216;23437065;23468063;23523425;23525303;23559850;23592496;23601184;23667531;23671559;23686310;23700898;23708658;23712029;23727134;23744494;23807724;23820733;23864317;23873108;23873701;23950210;23984324;23990442;24039897;24122997;24139839;24145240;24252251;24292392;24300467;24312366;24317363;24337040;24379598;24457600;24614341;24719948;24800958;24816145;24889242;7715727;8268912;8390036;9009205;9121482;9199346;9367786;9858531 648 P35226;Q5T8Z2;Q5T8Z4;Q5T8Z5;Q5T8Z6 ABBA01034480;AI274830;AL158211;AMYH02022433;AMYH02022434;AMYH02022435;BC011652;BE008203;BT019450;CH471072;CR456911;DB161566;DB225488;L13689;NM_005180 AAA19873;AAH11652;AAV38257;CAG33192;EAW86148;EAW86150;EAW86151;EAW86154;NP_005171;P35226 Hs.380403;Hs.731287 FLVI2/BMI1;MGC12685;PCGF4;RNF51 B lymphoma Mo-MLV insertion region 1 homolog;BMI1 polycomb ring finger oncogene;BMI1 polycomb ring finger proto-oncogene;OTTHUMP00000019290;OTTHUMP00000019291;OTTHUMP00000019293;OTTHUMP00000019294;flvi-2/bmi-1;murine leukemia viral (bmi-1) oncogene homolog;oncogene BMI-1;polycomb complex protein BMI-1;polycomb group RING finger protein 4;polycomb group protein Bmi1;polycomb group ring finger 4;ring finger protein 51 APPROVED protein-coding ENSG00000168283 HGNC:1066 01277 164831 VALIDATED 1352048 BMIQ1 body mass index quantitative trait 1 11713718 170815 1338834 D7S1804 HGNC:23827 606641 1348709 BMIQ2 body mass index quantitative trait 2 11713718 192149 1857361 D13S257 HGNC:23828 606643 1349561 BMIQ3 body mass index quantitative trait 3 11713718 337895 1298296;1331554 D6S1009;D6S305 HGNC:23829 607446 1344681 BMIQ4 body mass index quantitative trait 4 ASSOCIATED WITH BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (inferred) 7240710 11713718 338026 1298235;1298267 D11S1998;D11S4464 HGNC:23830 607447 730933 BMP15 bone morphogenetic protein 15 The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The transforming growth factor-beta superfamily includes large families of growth and differentiation factors. It is thought that this protein may be involved in oocyte maturation and follicular development as a homodimer or by forming heterodimers with a related protein, Gdf9. Defects in this gene are the cause of ovarian dysgenesis 2.[provided by RefSeq, Sep 2009] X X X p11.2 54697190 54703096 + 50653735 50659641 + 50910735 50916641 + 1599496;734646;1580863;6480464;7240710;8554872;8699517 10888873;16508750 10443672;10998422;11741284;12419820;12446716;12477932;14970198;15136966;15489334;15772651;15809424;16464940;16645022;17027369;17464588;17826728;17905236;18006624;18227435;18308851;18614612;18980767;19263482;19346101;19376510;19438907;19553676;19635612;19651638;19933466;20067794;20236105;20364024;20547206;20734064;20937357;21226076;21496799;21565556;21632818;21669410;22014425;22294741;22356426;22382392;22825968;23173577;23782946;24140593;9849956 9210 O95972 ABBA01060056;ABBA01060057;AF082349;AF082350;AJ132405;AL359914;AMYH02039366;BC069155;BC117264;BC117266;CH471180;NG_012894;NM_005448 AAC99768;AAH69155;AAI17265;AAI17267;ADR82968;CAB43531;EAW89914;NP_005439;O95972 Hs.532692 1795436;5016029 BMP15;BMP15_481 BMP-15;GDF-9B;GDF9B;ODG2;POF4 OTTHUMP00000023297;growth/differentiation factor 9B APPROVED protein-coding ENSG00000130385 HGNC:1068 02216 300247;300510 REVIEWED 1604611 BMP2K BMP2 inducible kinase This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q21.21 76993004 77128983 + 79697532 79837519 + 78776378 78916365 + 6480464;8554872 11500515;11693963;12477932;12665801;14702039;15254968;15489334;16751776;16753015;17081983;18029348;18976975;19336002;19380743;19453261;19738201;19927351;20811636;9853615 55589 H0Y9P1;K4DI97;Q9NSY1 AB015331;ABBA01063387;ABBA01063388;ABBA01063389;AC093841;AC098818;AF527532;AK021620;AK021725;AK075278;AK292147;AL137275;AL137661;AMYH02009545;BC036021;CH471057;NM_017593;NM_198892;XM_005263117 AAH36021;AAM88867;AAY40926;ABM81920;BAA34790;BAC11515;BAF84836;CAB70673;CAB70863;EAX05829;EAX05830;EAX05831;EAX05832;EAX05833;EAX05834;EAX05835;NP_060063;NP_942595;Q9NSY1;XP_005263174 Hs.146551 1337651;1340838;1646234;1658860;1693710;1788634;1797324;1852600;2171790;5014051;5037552;5095905;5109281 BMP2K_2550;D1S1425;D4S2947;D4S3003;D8S2278;D8S2279;RH18145;RH66110;SHGC-50474;SHGC-58631;SHGC-59236;SHGC-67617;STS-N20237 BIKE;DKFZp434K0614;DKFZp434P0116;HRIHFB2017 BMP-2-inducible protein kinase;OTTHUMP00000219234;OTTHUMP00000219235 APPROVED protein-coding ENSG00000138756 HGNC:18041 09828 REVIEWED 733110 BMP2 bone morphogenetic protein 2 The protein encoded by this gene belongs to the transforming growth factor-beta (TGFB) superfamily. The encoded protein acts as a disulfide-linked homodimer and induces bone and cartilage formation. [provided by RefSeq, Jul 2008] 20 20 20 p12 6819903 6832070 + 6748745 6760910 + 6768098 6780263 + 1580077;1625347;734647;1625350;1580863;2289030;1643592;2289037;2299981;6480464;6484113;6907045;7240710;8698669;8699517;8554872;9068404 15042598;15334463;16361357;16519147;16651391;17002564;17656261;18021008;2117991;23770801 10074410;10085302;10196167;10220513;10657699;10692589;10704850;10712517;10880444;10881198;11180925;11263668;11456401;11497252;11502704;11642720;11718007;11741887;11748585;11780052;11792561;11811554;11837817;11854297;11953135;11968014;12002771;12052447;12082094;12126644;12168799;12210753;12477932;12489168;12527559;12531697;12535648;12620973;12740218;12819188;12854828;12856332;12872164;12897139;12919699;12925611;12933820;13678785;14499589;14558086;14587031;14623234;14660436;14691541;14699493;1487246;15020244;15037653;15039429;15064755;15102076;15110716;15150273;15240857;15254224;15322112;15358784;15592496;15621726;15641068;15647827;15647840;15671031;15851600;15857508;15861517;16000303;16049014;16126463;16150699;16157126;16194878;16243309;16247476;16261446;16326713;16391828;16432645;16433617;16442268;16453284;16598384;16604289;16613856;16615932;16621789;16637042;16672363;16719933;16753015;16754660;16771708;16815889;16835229;16893455;17003113;17029022;17120779;17138967;17168321;17202865;17244894;17255107;17262821;17356069;17401695;17416365;17437303;17472960;17504062;17518682;17519894;17530715;17549388;17553463;17577985;17608624;17617489;17681894;17711857;17726567;17824831;17847004;17919499;17960657;17992660;17997109;18029192;18059017;18059158;18156628;18160010;18160401;18179800;18184661;18287331;18311072;18326817;18382765;18389292;18391951;18400943;18404105;18426824;18434375;18436533;18465455;18471510;18490653;18510873;18512729;18545679;18546152;18586671;18600473;18703506;18720162;18720410;18773965;18812404;18818419;18937504;18950289;19018606;19023570;19038372;19058174;19079261;19080362;19098993;19112539;19113914;19123988;19139264;19140318;19231972;19238726;19240369;19266077;19281856;19301257;19324447;19324883;19327734;19341710;19375587;19438813;19453261;19473100;19492344;19582526;19584291;19609629;19639199;19653054;19655815;19664780;19670606;19693635;19699244;19713532;19736317;19754224;19762079;19782107;19797419;19799789;19800879;19811499;19835871;19857615;19879168;19909214;19913121;19918795;19924575;19953937;20014079;20039267;20041271;2004778;20060812;20065295;20232298;20237276;20301613;20302941;20304956;20306291;20346918;20348041;20424473;20432245;20432444;20505824;20506112;20530805;20537331;20546278;20546612;20548225;20555025;20565259;20567515;20576608;20587070;20587610;20628086;20634891;20637325;20651281;20659471;20668165;20670444;20672350;20677014;20679527;20682677;20684029;20721706;20730440;20734064;20816195;20818491;20825377;20838369;20848249;20874259;20881960;20927405;20939477;21054789;21084396;21096864;21121067;21128211;21205918;21212630;21247344;21254281;21277338;21285872;21308375;21308777;21327739;21347550;21401418;21415150;21471203;21570392;21655089;21659661;21660578;21673630;21688123;21688312;21688537;21702718;21720209;21755409;21777514;21842277;21876344;21885439;21907184;21923031;21998741;22102412;22119392;22270235;22310349;22323359;22359486;22366399;22496405;22540193;22542719;22583106;22652428;22652796;22674456;22771956;22778550;22791809;22886971;22894570;22958403;22961954;22965927;23010719;23017834;23023810;23079991;23088504;23122408;23142810;23150675;2315314;23160099;23161572;23192572;23239467;23251661;23266556;23276457;23313904;23341458;23359411;23360788;23396134;23423222;23461810;23506588;23528838;23537995;23563607;23669352;23708553;23716395;2376592;23790163;23825642;23900689;23901942;23916851;23918166;24008158;24060635;24077220;24100446;24144296;24153173;24175816;24247005;24266740;24321094;24339730;24387671;24393182;24406215;24492129;24561081;24573607;24601881;24828823;24885555;3201241;7791754;7811286;8006002;8752214;9187146;9197246;9213002;9493905;9693150;9872992 650 C8C060;P12643 ABBA01053905;AF040249;AL035668;AMYH02036663;BC069214;CH471133;GQ335529;GQ335531;HI961649;KC294426;KF250425;M22489;NG_023233;NM_001200 AAA51834;AAF21646;AAI40326;AAI48690;ACE86832;ACE87518;ACV32585;ACV32587;AGG86667;AGW22219;CBY84970;EAX10386;EAX10387;NP_001191;P12643 Hs.73853 1339398;1647797;1769780;1795438;2110529;2157002 BMP2_294;D20S1011;D20S892;MARC_41391-41392:1086625030:1;RH66075;RH71375 BDA2;BMP-2A;BMP2A OTTHUMP00000030228;bone morphogenetic protein 2A APPROVED protein-coding ENSG00000125845 HGNC:1069 00206 112261;112600;235200 REVIEWED 1605441 BMP1 bone morphogenetic protein 1 This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008] 8 8 8 p21.3 20984783 21032542 + 22022653 22069839 + 22165140 22212326 + 6480464;8699517;7240710;8554872 10479448;10806203;11260715;11283002;11741999;11986329;12218058;12393877;12477932;12637537;12637569;14702039;14759258;15225209;15525470;15591058;15817489;15857508;16169070;16344560;16507574;16806233;16824737;17071617;17255107;17407447;17516847;17548836;18056036;18349123;18624398;18824173;18854154;19305382;19323056;19617627;19801683;20026052;2004778;20237496;20628624;20955454;21258932;21415150;21453682;21697095;21897187;21946044;22052668;22482805;22860217;23505323;23584484;23640157;24042462;24984282;3201241;7798260;8404039;8530106;8553073;8643539;9500680 649 B7ZKR5;E5RH22;P13497;Q3MIM8 AB012098;AB209590;ABBA01005507;ABBA01005508;ABBA01005509;AC105206;AF318323;AK126396;AK226123;AK291620;AL137746;AMYH02017589;BC002593;BC009305;BC032105;BC044626;BC101763;BC101765;BC136679;BC142953;BC143338;BC144365;BC144366;BE619065;BU627735;CH471080;DA720194;DA864391;DR004420;L35278;L35279;M22488;NG_029659;NM_001199;NM_006129;NR_033403;NR_033404;U50330;XM_006716386;XR_428315;Y08723;Y08724;Y08725 AAA51833;AAA93462;AAC41703;AAC41710;AAI01764;AAI01766;AAI36680;AAI42954;AAI43339;AAL55830;BAA76306;BAD92827;BAF84309;CAA69973;CAA69974;CAA69975;EAW63697;EAW63698;EAW63702;NP_001190;NP_006120;P13497;XP_006716449 Hs.1274 1660966;1671114;1725833;1742917;1769489;1786790;2113882;2137518;2153216;2155247;2178086;5014053 A005O36;D14S1296;D1S3693;G62003;GDB:215516;RH66510;RH78298;RH78932;SFTPC;SGC35299;SHGC-156059;WIAF-1622 FLJ44432;OI13;PCOLC;PCP;PCP2;TLD;pCP-2 OTTHUMP00000123391;OTTHUMP00000224828;OTTHUMP00000224832;OTTHUMP00000224834;OTTHUMP00000227399;mammalian tolloid protein;procollagen C-endopeptidase;procollagen C-proteinase;procollagen C-proteinase 3 APPROVED protein-coding ENSG00000168487 HGNC:1067 00209 112264;614856 REVIEWED 1353352 BMP10 bone morphogenetic protein 10 The protein encoded by this gene is a member of the TGF-beta family of growth factors. Data suggest that the similar protein in mouse plays an important role in trabeculation of the embryonic heart. In human, this protein may signal through receptor serine/threonine kinases. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 68943104 68949140 - 69092613 69098649 - 68865481 68871517 - 1580863;2302083;6480464;8554872 17921333 10072785;12477932;15489334;15815621;16049014;17068149;19903896;19913121;20237496;20608934;20628086;20634891;20734064;21550985;21737454;21988832;22718755;23645739 27302 O95393 ABBA01075491;AC097495;AF101441;AMYH02004015;BC069080;BC101734;BC105063;CH471053;NG_032117;NM_014482 AAC77462;AAH69080;AAI01735;AAI05064;AAY15075;EAW99863;NP_055297;O95393 Hs.158317 1795434 BMP10_720 BMP-10;MGC126783 OTTHUMP00000159973 APPROVED protein-coding ENSG00000163217 HGNC:20869 09788 608748 REVIEWED 1344269 BMP2KL BMP2 inducible kinase-like, pseudogene INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) X X X q13.2 73689230 73690613 + 73405760 73407143 + 74185925 74187308 + 6480464 347359 Q5H9B9 ABBA01059593;AMYH02039775;NG_009518;Z83843 Q5H9B9 APPROVED pseudo HGNC:17080 INFERRED 735356 BMP3 bone morphogenetic protein 3 BMP3 belongs to the transforming growth factor-beta (TGFB) superfamily. Bone morphogenic protein, also known as osteogenin, induces bone formation. [provided by RefSeq, Jul 2008] 4 4 4 q21 79245158 79271726 + 81952119 81978685 + 81030965 81057531 + 1580863;2289037;6480464 16651391 11138004;11642720;12477932;13678778;15269709;15475196;15489334;17924656;18311777;18391951;19199708;19453261;1970330;2004778;20143330;20238409;20532035;20734064;21415150;21628466;2211625;22303795;23127436;23396134;23449627;23455924;24993691;2612162;3201241;7811286;9434787 651 P12645 ABBA01063411;AC093883;AMYH02009575;AMYH02009576;BC096269;BC096270;BC096271;BC117514;CH471057;M22491;NM_001201;XM_006714291 AAA51836;AAH96269;AAH96270;AAH96271;AAI17515;EAX05866;NP_001192;P12645;XP_006714354 Hs.387411 1652871;2136538;2179601 RH66829;SHGC-51737;STS-M22491 BMP-3;BMP-3A OTTHUMP00000160802;bone morphogenetic protein 3 (osteogenic);bone morphogenetic protein 3A;bone morphogenetic protein-3;osteogenin APPROVED protein-coding ENSG00000152785 HGNC:1070 00208 112263 REVIEWED 1344234 BMP7 bone morphogenetic protein 7 The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development and possible bone inductive activity. [provided by RefSeq, Jul 2008] 20 20 20 q13 52484025 52581945 - 55743809 55841707 - 57168753 57266651 - 1580863;1643589;2289029;2289030;2289031;2289041;1643225;2289034;1601494;2289039;1643590;2289032;2289033;2289036;2289037;2289038;6480464;6484113;6907045;8554872 12539225;15277215;15861517;16034630;16284088;16549155;16651391;17004110;17437042;17644140;17656261;17696121;17895257;9626398;9808158 10912525;11401538;11438941;11472891;11502704;11580864;11769973;11780052;12385776;12477932;12478285;12478660;12594282;12631064;12667445;12734180;12740218;12741987;12792780;12811818;12919879;12925612;1427904;14517293;14587033;14623234;14660436;14679171;14702039;14751565;14981086;15020244;15100360;15489334;15574511;15929982;15994952;16049014;16126463;16325379;16344560;16419056;16646979;16686760;16719933;16807538;16831023;16846353;16899516;17003840;17018615;17244894;17262821;17264867;17415633;17478078;17497692;17522432;17530715;17530716;17624341;17724140;17909016;17977014;18029192;18032587;18160010;18184661;18259822;18292470;18328806;18349123;18393351;18436533;18437684;18465455;18496506;18508541;18514338;18560367;18621057;18978678;18980801;19056781;19108831;19112509;19116903;19180920;19240369;19283074;19301001;19396502;19403392;19453255;19453261;19597895;19725097;19736306;19816049;19846067;19850743;19913121;19950204;20085912;20093492;20126477;20188872;20237496;20424473;20445470;20506283;20530416;20540029;20546278;20573231;20628086;20632031;20656331;20670444;20677014;20682677;20734064;20887146;20932341;20952383;21080950;21110425;21224856;21305726;21317922;21447156;21458096;21485009;21506685;21591998;21609526;21644225;21738478;21765909;21842277;21896235;21898381;21906983;21913019;21924665;21935711;22048752;22099397;22118688;22124112;22140272;22209770;22209843;22212474;22244873;22253716;22305102;22447022;22490392;22525892;2263636;22674456;22720873;22778550;22795855;22958403;23046931;23126427;23132958;23179403;23243027;23386650;23455153;23471555;23504348;23539268;2357959;23580474;23651239;23697978;23747893;23825642;23888776;24008158;24069261;24072698;24117149;24184479;24190429;24284793;24384427;7560881;7644468;7791754;8006002;8297380;8570652;8605097;8889548;9311995;9693150;9748228;9872992 655 A8K571;B1AKZ9;B1AL00;H0Y4B5;P18075 ABBA01052919;ABBA01052920;ABBA01052921;AF210054;AF289090;AK094784;AK291186;AK312419;AL122058;AL157414;AMYH02037351;AMYH02037352;BC004248;BC008584;BM683430;CH471077;CQ786476;CS150682;CS237122;CS279049;CS284582;CS410513;CS455741;CS670983;DA740733;EU679366;GM868923;HC190935;JB345838;KJ875974;M60316;NG_032771;NM_001719;X51801 AAA36738;AAF97256;AAG43508;AAH08584;ABM82420;ABM85611;ABW03413;ACD50899;AIL24690;BAF83875;BAG35329;CAA36100;CAG17752;CAJ29673;CAJ47525;CAJ86525;CAJ98562;CAL47728;CAL85403;CAP07469;CAV07685;CBI69260;CDH92867;EAW75529;EAW75530;EAW75531;NP_001710;P18075 Hs.473163 1674555;1685732;1718157;1788182;1797326;2143144;2145917;2167457;5015961;5022450;5022588;5037552 BMP7_1982;Bmp7;D10S275;D15S1477;D5S1597E;D8S2279;RH122846;RH66106;RH78681;RH92030;SHGC-11943;Z94370 BMP-7;OP-1 OTTHUMP00000031357;OTTHUMP00000166092;OTTHUMP00000166093;OTTHUMP00000166094;osteogenic protein 1 APPROVED protein-coding ENSG00000101144 HGNC:1074 00212 112267 REVIEWED 730832 BMP4 bone morphogenetic protein 4 The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. This particular family member plays an important role in the onset of endochondral bone formation in humans, and a reduction in expression has been associated with a variety of bone diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. Alternative splicing in the 5' untranslated region of this gene has been described and three variants are described, all encoding an identical protein. [provided by RefSeq, Jul 2008] 14 14 14 q22-q23 34466196 34473296 - 54416454 54423554 - 53949736 53956836 - 734648;1580863;2289025;2289037;1643593;1643597;1643592;2289003;2289004;2289006;629544;1643589;1643590;1643225;1643229;2296026;6480464;6484113;6907045;7240710;8699518;8554872;8698665;8699491;8699493;9068399;9068432;9068407;8699496;8699500;8699519;8699517;8698669;9068434;9068443;9068408;9068397;9068447;9068457;8698668;8699510;8699514;8847123;9068398;9068437;8699495;9068402;9068404;9068442;9068449;8699501;8699511 10701160;11722794;12552124;12782598;12810166;14710472;15352071;16332232;16393252;16420416;16447218;16447265;16488995;16519147;16651391;16730912;16818050;17004110;17275231;17286956;17570215;17644140;17661743;17696121;18021008;18280291;18422975;18803859;19035511;19158083;19404941;19557432;19956410;21034624;21411747;22027561;22392094;22658483;22710965;22752548;23236544;23747723;23770801;24492129;8678932 10021330;10457277;10657699;10706139;10809227;10894154;11023873;11156467;11241215;11260715;11282024;11427739;11441185;11472891;11502704;11642720;11706034;11771659;11865031;11867524;12019147;12045205;12054672;12064918;12141440;12163415;12235106;12399320;12404109;12421925;12445813;12477932;12531697;12606287;12631064;12702499;12766166;12865307;12897139;14660436;14672349;14749725;14973287;15020244;15039429;15102076;15173106;15186723;15231748;15388638;15451575;15489334;15516325;15516492;15591037;15775969;15777683;15861517;16126463;16195406;16341674;16373339;16514669;16542506;16604289;16719933;16769910;16816361;17003113;17003840;17015616;17118062;17189614;17207965;17244894;17253944;17255107;17262821;17272306;17275810;17343268;17350185;17429723;17472960;17516553;17556598;17600318;17624341;17640799;17696196;17708801;17720811;17785623;17847004;17850284;17850776;17967130;17989347;17992660;18029192;18076106;18252212;18292231;18305125;18317771;18319260;18326817;18365875;18369157;18385288;18400943;18436533;18437684;18537141;18551993;18587495;18596037;18632632;18643848;18664625;18683889;18720384;18771417;18775317;18787191;18818419;18823971;19011631;19213939;19240369;19249007;19269967;19321257;19407504;19450561;19453261;19473100;19488929;19661459;19685083;19763374;19799789;19814781;19816200;19819988;19839778;19913121;19914800;19915575;19923894;19950207;20001220;20023658;20054823;20057906;20144598;20146882;20157553;20182795;20301552;20437058;20480203;20486775;20505824;20506112;20546278;20573231;20619754;20628086;20628624;20634891;20659471;20668459;20672350;20682677;20705941;20730570;20734064;20844743;20858598;20931521;20949628;21050181;21054789;21072679;21092609;21128211;21152263;21186333;21228692;21340693;21362572;21456062;21565626;21655089;21670081;21673106;21674241;21704030;21855631;21868759;21906983;21927809;22019704;22052794;22064324;22076569;22103619;22105615;22118688;22158048;22158624;22167620;22170598;22191848;22209843;22210872;22241220;22350792;22383492;22396540;22447857;22504665;22514733;22535375;22546285;22610502;22641693;22698853;22700770;22736943;22886282;22899288;22971142;22988237;23010644;23079991;23161572;23208015;23232839;23243277;23259602;23386650;23388637;23454123;23468018;23493551;23590708;23643939;23651239;23673366;23702483;23704328;23841782;23899883;23937428;23939983;23993924;24013228;24044460;24072698;24099560;24100446;24131739;24284793;24311462;24350253;24398041;24400095;24460721;24477565;24532425;24727450;24782191;24923741;3201241;7558046;7579580;7644468;7673243;7811286;8006002;8146069;8645259;8674409;8702914;8752214;8889548;9187146;9389648;9701626;9804553 652 H0YLW3;H0YM53;H0YMP9;P12644;Q53XC5;V9GYF1 ABBA01018188;AF035427;AF035428;AF210053;AL138479;AMYH02029213;AX552085;BC020546;BQ083000;BU683974;BX161385;BX161438;CH471061;D30751;EU518936;HB975907;KF250427;M22490;NG_009215;NM_001202;NM_130850;NM_130851;U43842;XM_005268015 AAA51835;AAC72278;AAH20546;ABW03634;ACB21039;ADQ32405;AGW21692;BAA06410;CAD57968;CAD61876;CAD61909;CBE74713;EAW80628;EAW80629;EAW80630;EAW80631;NP_001193;NP_570911;NP_570912;P12644;XP_005268072 Hs.68879 1648777;1777240;1795440;2178138;2179903;2191729;5492305 BMP4_296;Bmp4;G15892;MARC_5761-5762:996690803:2;RH47295;RH66828;SHGC-57004 BMP-2B;BMP-4;BMP2B;BMP2B1;MCOPS6;OFC11;ZYME OTTHUMP00000178992;bone morphogenetic protein 2B APPROVED protein-coding ENSG00000125378 HGNC:1071 00207 112262;600625;607932 REVIEWED 1350917 BMP6P1 bone morphogenetic protein 6 pseudogene 1 22 22 22 q11.2 6357301 6358947 + 22539860 22541506 + 22185470 22187116 + 19738031;9074928 266700 ABBA01055082;AC245517;D87000;NG_000002 1777055 D22S585 TGF-beta1P;TGFB1P pseudo HGNC:19329 VALIDATED 1314330 BMP5 bone morphogenetic protein 5 This gene encodes a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. These proteins are synthesized as prepropeptides, cleaved, and then processed into dimeric proteins. This protein may act as an important signaling molecule within the trabecular meshwork and optic nerve head, and may play a potential role in glaucoma pathogenesis. This gene is differentially regulated during the formation of various tumors. [provided by RefSeq, Jul 2008] 6 6 6 p12.1 57281444 57401579 - 55618451 55740388 - 55755438 55875590 - 1580863;6480464;6907045 11564221;11580864;11642720;11807867;11865031;11967953;12131877;12477932;1427904;14574404;14660436;15489334;15516325;15861517;16542506;17220169;17656261;19584291;19935299;20021689;20379614;20734064;21319131;21704030;2263636;22844442;24384427;7811286;8630036;9950587 653 B4E0Y4;M9VUD0;P22003 ABBA01050502;ABBA01050503;ABBA01050504;AK291559;AK303576;AL133386;AL137178;AMYH02013771;AMYH02013772;BC027958;CH471081;KC485577;M60314;NM_021073;S81957;XM_005249304 AAA36736;AAH27958;AGJ83825;BAF84248;BAG64596;EAX04447;NP_066551;P22003;XP_005249361 Hs.296648 1340791;1661606;1663362;1694206;1718573;1794802;1851199;2169601 AL035197;D6S1276;D6S1661;PMC56999P1;RH122491;RH35693;RH71440;STS-M60314 BMP-5;MGC34244 OTTHUMP00000016650;bone morphogenenic protein-5 APPROVED protein-coding HGNC:1072 00210 112265 REVIEWED 1353193 BMP6 bone morphogenetic protein 6 The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has lead to speculation of possible bone inductive activity. [provided by RefSeq, Jul 2008] 6 6 6 p24-p23 8956438 9111399 + 7727011 7881972 + 7726778 7881728 + 1580863;2289017;2289018;2289024;1643590;2289020;6480464;6484113;6907045;7242189;7242194;7242407;7242413;7242415;7242419;8554872 11245809;16166304;16388909;17004110;18072288;20016212;21356359;21859731;22361727;22364398;23097200 10504300;10582704;11401330;11865031;12140680;12477932;12897139;13130469;1427904;1453478;14558086;14574404;14623234;14660436;15186723;15516325;15548695;15784727;15861517;15877825;16527843;16547600;16604289;16886151;17238135;17244894;17262821;17574840;17575215;17577985;17879955;17899540;17924656;18070108;18187665;18308844;18326817;18349123;18391951;18436533;18632632;18683889;18688853;18805502;18931653;18949431;19075223;19093115;19245827;19252488;19266077;19308091;19366699;19539911;19543302;19694819;19718049;19765379;20048150;20379614;20401668;20460105;20530805;20546612;20567515;20573596;20587610;20605837;20634891;20734064;20844121;20881960;21136273;21622652;21898381;21963094;22086350;22305102;22419666;2263636;22641693;22792339;23049088;23563607;23674072;23799295;24012720;24185914;24498236;24518599;24875397;7605353;7811286;8089189;9116752;9331107;9417921;9435314;9512655 654 B4DUF7;P22004;Q4VBA3 ABBA01022046;ABBA01022047;ABBA01022048;AF083030;AK300628;AL133541;AL135778;AMYH02013062;AMYH02013063;BC096084;BC096085;BC099624;BC099625;BC111763;BC112352;BC113018;BC113019;BC128031;CH471087;KF458088;M60315;NM_001718 AAA36737;AAC33283;AAH96084;AAH96085;AAH99624;AAH99625;AAI11764;AAI12353;AAI13019;AAI13020;AAI28032;AAI60106;BAG62319;EAW55219;NP_001709;P22004 Hs.285671 1649676;1654410;1694260;1697148;1708270;1713133;1713297;1751037;1761537;1852382;2178853 A002L04;AL035176;D6S1842;NIB594;RH102060;RH120353;RH120640;SHGC-104947;SHGC-145537;SHGC-79401;WI-13193 BMP-6;VG-1-R;VGR;VGR-1;VGR1 OTTHUMP00000016006;VG-1-related protein;Vg1-related sequence;vegetal related growth factor (TGFB-related);vegetal-related (TGFB related) cytokine 2289435 BMD4_H APPROVED protein-coding ENSG00000153162 HGNC:1073 00211 112266 REVIEWED 1353972 BMPR1APS1 bone morphogenetic protein receptor, type IA pseudogene 1 6 6 6 q22.33 130224958 130226552 - 129478671 129480265 - 129157526 129159120 - 10051328 100421515;359949 ABBA01025917;ABBA01025918;AL669984;AMYH02014466;NG_025866 pseudo HGNC:21742 INFERRED 1350211 BMP8A bone morphogenetic protein 8a ENCODES a protein that exhibits cytokine activity (inferred); growth factor activity (inferred); INVOLVED IN diet induced thermogenesis; negative regulation of insulin secretion; regulation of energy homeostasis; PARTICIPATES IN Hedgehog signaling pathway; transforming growth factor-beta superfamily mediated signaling pathway; FOUND IN extracellular space (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; quercetin 1 1 1 p34.3 38238694 38277383 + 39957318 39995541 + 39491646 39529869 + 1580863;6480464;6907045 12477932;14702039;16710414;20237496;20424473;20467438 353500 Q7Z5Y6;Q9H7R1 AA732526;ABBA01023208;ABBA01023209;AK024413;AK127199;AL365277;AMYH02000833;AY303954;BC093743;BC112044;BC131617;BU616301;CH471059;NM_181809;XM_006710616 AAH93743;AAI31618;AAP74559;BAB14915;BAC86882;EAX07272;EAX07273;NP_861525;Q7Z5Y6;XP_006710679 Hs.472497 1678043;1686260;1704972;1729734;2180677;2220574;5015861;5016781;5037552;7185938 AL010109;D10S16;D1S168;D8S2279;RH76261;RH93165;SHGC-67307;SHGC-77986;UniSTS:485525 BMP-8A;FLJ14351;FLJ45264 OTTHUMP00000010046 protein-coding HGNC:21650 16555 VALIDATED 1351193 BMPR1APS2 bone morphogenetic protein receptor, type IA pseudogene 2 11 11 q24.1 121232562 121233631 - 121361853 121362922 - 100533800;359950 ABBA01031305;AMYH02025687;AP002959;NG_028805 pseudo HGNC:21743 INFERRED 9068492 BMP7-AS1 BMP7 antisense RNA 1 20 q13.31 57213696 57215866 + 102723590 ABBA01052920;AL122058;AMYH02037352;BX104623;HG511472;HY007704;HY191606;NR_110631;XR_425253;XR_430329;XR_433622 Hs.667674 ncrna HGNC:40096 VALIDATED 1604514 BMPER BMP binding endothelial regulator This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011] 7 7 7 p14.3 33926362 34175842 + 33944523 34195484 + 33904911 34155872 + 6480464;8699517;7240710;8554872 11853319;12477932;12690205;12897139;14702039;14766204;15489334;16344560;18787191;20869035;21990102;22020334;22474252;22772758;22778264;23641068 168667 C9JY72;F8WDG9;G5E9K4;Q8N8U9 AACC02000103;AB075845;ABBA01056873;ABBA01056874;ABBA01056875;AC007350;AC010002;AK289963;AMYH02015499;AMYH02015500;AMYH02015501;AMYH02015502;AMYH02015503;AY324650;BC060868;BX380517;DB322218;NG_031933;NM_133468;XM_005249633;XM_005249634;XR_428072 AAH60868;AAP89012;BAB85551;BAF82652;EAL24468;NP_597725;Q8N8U9;XP_005249690;XP_005249691 Hs.660998 1341079;1671835;1677680;1718947;1755911;1759165;1786456;2120881;2151161;2153809;2183873;5022679 BMPER;D7S1421;D7S2373;D7S683;G16044;RH123180;RH48328;RH79923;SHGC-142745;SHGC-172305;SHGC-3490;WI-14030 CRIM3;CV-2;CV2;hCV2 BMP-binding endothelial regulator precursor protein;BMP-binding endothelial regulator protein;OTTHUMP00000158859;bone morphogenetic protein-binding endothelial cell precursor-derived regulator;crossveinless 2;crossveinless-2 APPROVED protein-coding ENSG00000164619 HGNC:24154 16368 608022;608699 REVIEWED 8694008 BMPR1B-AS1 BMPR1B antisense RNA 1 (head to head) 4 4 4 q22.3 92961733 92975594 - 95664825 95679129 - 94743674 94757978 - 100507012 ABBA01063626;AC093634;AI150588;AMYH02009761;HG497085;NR_121610;XR_109821;XR_112666;XR_171461 Hs.128612 ncrna HGNC:50864 VALIDATED 1354405 BMPR1B bone morphogenetic protein receptor, type IB This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 4 4 4 q22-q24 93094009 93376257 + 95679128 96079601 + 94757977 95158450 + 1334470;1600593;1580863;5129472;5129470;6480464;6484113;6907045;7240710;8554872;8699517 14523231;15805157;18292470;19324947 10051328;10504300;10712517;10850425;11266516;11279102;11282024;11312159;11401330;11420127;11483516;11781009;12065756;12135884;12419820;12477932;12857866;14576167;15064755;15192043;15235019;15489334;15611116;15621726;15761153;15775969;15897891;16014698;16436528;17001689;17203235;17356069;17363346;17381068;17624341;18184661;18436533;18619554;18758450;18773965;19135982;19451094;19453261;19513897;19738052;19758997;19782107;19953087;20201926;20467438;20587070;20634891;20673479;20732626;20734064;21152263;21556765;21791611;21832049;22293501;22294741;22374147;22384028;22971142;24008158;24021264;24100446;24529757;24850914;7791754;7811286;8006002;8140412;8605097;8702914;8707881;9178898;9436979;9525338;9730621;9872992;9950587 658 A8KAE3;D6RAW8;D6RGW8;O00238 ABBA01063626;ABBA01063627;ABBA01063628;ABBA01063629;ABBA01063630;AC004061;AC092609;AC093634;AC105395;AK293008;AK299930;AK313642;AMYH02009761;AW299723;BC047773;BC069796;BC069803;CH471057;D89675;NG_009245;NM_001203;NM_001256792;NM_001256793;NM_001256794;U89326;XM_006714292 AAC28131;AAH47773;AAH69796;AAH69803;BAA19765;BAF85697;BAG36400;BAG61763;EAX06060;NP_001194;NP_001243721;NP_001243722;NP_001243723;O00238;XP_006714355 Hs.598475 1336908;1339981;1651281;1705916;1708198;1718743;1726439;1771947;1852562;1855047;2123750;2131954;2163680;2165139;2166465;2177437;5020841;5492363 D4S1045;D4S2278;D4S2380;G41993;G62599;MARC_8975-8976:1025019065:3;RH123060;RH70713;SHGC-24790;SHGC-51110;SHGC-51118;SHGC-51758;SHGC-59827;SHGC-67739;SHGC-78087;SHGC-79355;SHGC-9264;SHGC4-1504 ALK-6;ALK6;CDw293 BMP type-1B receptor;BMPR-1B;OTTHUMP00000161621;OTTHUMP00000161622;OTTHUMP00000219359;OTTHUMP00000219880;OTTHUMP00000219882;activin receptor-like kinase 6;bone morphogenetic protein receptor type-1B;serine/threonine receptor kinase APPROVED protein-coding ENSG00000138696 HGNC:1077 04457 112600;603248;609441 REVIEWED 735373 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008] 2 2 2 q33-q34 196992827 197184404 + 203241033 203432474 + 202376327 202567751 + 1580076;1580077;1580863;5129488;5129474;5129239;5129472;5129486;5129230;5129237;5129470;5129473;2289041;5129238;6480464;5135278;6484113;6907045;7240710;8554872;8699517 10996456;15775752;16361357;18292470;18663089;18723761;19324947;19785764;20002458;20534176;21070126;21521772;9080432;9626398 10051328;10504300;10712517;10880444;10903931;10964520;10973254;11015450;11115378;11401330;11484688;11502704;11686884;11714695;12045205;12135884;12221115;12358323;12415595;12477932;12543773;12819188;12963706;14583445;14676131;14702039;15031260;15055271;15146475;15188402;15235019;15295086;15354178;15358693;15489334;15492256;15516492;15591269;15621726;15657086;15687131;15699281;15824058;15965979;16002577;16122479;16155937;16198295;16282533;16339782;16339917;16344560;16429395;16429403;16436528;16615932;16717148;16782755;16982201;17102831;17203235;17277049;17318011;17322283;17356069;17363346;17472960;17515463;17576816;17624341;17641158;17700526;17992660;18159113;18187665;18221724;18321866;18342887;18356561;18364108;18436533;18436795;18496036;18503968;18621057;18647753;18792970;19051722;19059957;19195606;19206171;19223935;19265191;19307479;19357154;19366699;19390056;19424179;19453261;19531247;19552837;19578724;19628780;19634078;19782107;19844076;19864167;19913121;20011660;20096498;20301658;20346360;20379614;20410205;20587070;20634891;20663871;20734064;20870717;20955454;21030519;21139048;21152263;21311592;21622843;21801371;21808054;21821917;21898662;21900206;21962132;22048752;22129439;22293501;22312021;22341419;22632830;22684006;22718755;22894880;22923421;22923661;22961979;22988237;23000965;23079343;23080069;23098893;23115311;23142694;23263486;23579436;23675998;23843612;23967299;24008158;24132125;24274756;24337809;24355637;24398041;24446489;24605778;24881940;7644468;7673243;7791754;7890683;8592941;8702914;8707881;9054941;9193425;9442116;9525338 659 Q13873 ABBA01062560;ABBA01062561;ABBA01062562;ABBA01062563;ABBA01062564;ABBA01062565;ABBA01062566;ABBA01062567;ABBA01062568;ABBA01062569;ABBA01062570;ABBA01062571;ABBA01062572;ABBA01062573;ABBA01062574;ABBA01062575;ABBA01062576;AC009960;AC064836;AC073410;AK023426;AK093832;AK123579;AK292430;AMYH02005566;AMYH02005567;AMYH02005568;AMYH02005569;AMYH02005570;AMYH02005571;AMYH02005572;AMYH02005573;AY277593;BC018743;BC032011;BC035097;BC041039;BC043650;BC052985;BF063564;BG530017;BQ889263;BQ896556;BU176845;C15977;CH471063;D50516;DA787547;DB233604;NG_009363;NM_001204;U20165;Z48923 AAC50105;AAH52985;AAQ18032;AAX76517;AAX88941;AAY24146;BAA09094;BAF85119;CAA88759;EAW70309;EAW70310;NP_001195;Q13873 Hs.471119 1665836;1666030;1670131;1689049;1751007;1769397;1797330;1854354;1856984;2114657;5016478 BMPR2_2375;D2S2918;G31437;G31877;GDB:434012;RH48774;RH69577;RH69994;RH94008;SHGC-104910;SHGC-57059 BMPR-2;BMPR-II;BMPR3;BMR2;BRK-3;FLJ41585;FLJ76945;POVD1;PPH1;T-ALK BMP type II receptor;BMP type-2 receptor;OTTHUMP00000164984;OTTHUMP00000164985;bone morphogenetic protein receptor type II;bone morphogenetic protein receptor type-2;bone morphogenic protein receptor, type ii (serine/threonine kinase);type II activin receptor-like kinase;type II receptor for bone morphogenetic protein-4 APPROVED protein-coding ENSG00000204217 HGNC:1078 02880 178600;265450;600799 REVIEWED 7367699 BMS1P10 BMS1 pseudogene 10 22 9 9 q13 5677423 5678127 + 67327775 67334984 - 63372803 63380012 - 11779832 728611 AL845321;AMYH02020800;NG_011422 pseudo HGNC:49154 INFERRED 7382278 BMS1P13 BMS1 pseudogene 13 9 9 q21.11 70334349 70337920 - 65828125 65831696 + 11779832 644716 BX284632;NG_005577 BMS1P14 pseudo HGNC:49158 INFERRED 7373733 BMS1P11 BMS1 pseudogene 11 9 9 q21.11 69718152 69721724 - 64705734 64709306 - 11779832;15164053 644632 AL359955;AL445665;NG_011503 pseudo HGNC:49156 INFERRED 1353706 BMP8B bone morphogenetic protein 8b The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has led to speculation of possible bone inductive activity. [provided by RefSeq, Jul 2008] 1 1 1 p35-p32 38505667 38535974 - 40223903 40254533 - 39758231 39788861 - 6480464;6907045 10894154;11427739;12477932;1460021;15063762;16314833;16710414;17474147;20379614;20734064;21145461;24076131;7757816;9070944 656 E7EMY8;P34820 ABBA01023201;AL033527;AL049824;AMYH02000837;AY303955;BC023526;BC108678;BQ888513;CH471059;F07575;NM_001720;XM_005271149 AAI08679;AAP74560;EAX07254;NP_001711;P34820;XP_005271206 Hs.734367 1686260;1729734;1797328;2180677 AL010109;BMP8B_2501;D1S168;RH93165 BMP-8;BMP-8B;BMP8;MGC131757;OP2 OTTHUMP00000010836;bone morphogenetic protein 8 (osteogenic protein 2);dJ118J21.1 (bone morphogenetic protein 8 (osteogenic protein 2));osteogenic protein 2 APPROVED protein-coding HGNC:1075 03792 602284 REVIEWED 7383219 BMS1P12 BMS1 pseudogene 12 9 9 q21.11 70083601 70087177 - 65189995 65193571 - 644684 AL512605;NG_030262 pseudo HGNC:49157 INFERRED 1345685 BMS1 BMS1 ribosome biogenesis factor This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009] 10 10 10 q11.21 39281288 39333715 + 43277954 43330385 + 42782506 42834937 + 1580863;6480464;6907045;8699517 10942432;11565749;11779832;11790298;12477932;15489334;15635413;16344560;18029348;19204726;19471022;19596686;19615732;19850743;21139048;21685912;21693764;21906983;21907836;22113938;22586326;22952844;23000965;23785305;24457600;24816145;8724849 9790 Q14692 ABBA01049992;ABBA01049993;AI184520;AI718109;AK308420;AL022344;AMYH02022702;AMYH02022703;BC043345;BC150252;BX485446;CH471160;D80009;DB064246;KF455225;NM_014753;XM_005271846;XM_005271847;XM_005271848;XM_005271849;XM_006718081;XR_246522;XR_428728 AAH43345;AAI50253;BAA11504;EAW86571;EAW86572;EAW86573;NP_055568;Q14692;XP_005271903;XP_005271904;XP_005271905;XP_005271906;XP_006718144 Hs.10848 1678147;2109089;5114334 BMS1L_8992;RH15653;RH25401 ACC;BMS1L;KIAA0187 BMS1 homolog, ribosome assembly protein;BMS1-like, ribosome assembly protein;OTTHUMP00000019477;bms1-like, ribosome assembly protein (yeast);ribosome assembly protein BMS1 homolog;ribosome biogenesis protein BMS1 homolog APPROVED protein-coding ENSG00000165733 HGNC:23505 10689 107600;611448 REVIEWED 1348383 BMS1P1 BMS1 pseudogene 1 10 q11.22 46737612 46762892 - 11779832;16344560 728053 ABBA01013319;ABBA01017234;AL450334;AL603982;AMYH02022812;AMYH02022813;AMYH02022814;AMYH02022815;AMYH02022816;AMYH02022817;AMYH02022818;DA245014;NR_026566;XR_432570;XR_432571 Hs.571994;Hs.711898 BMS1LP1;bA556L1.3 bms1l pseudogene 1 pseudo ENSG00000204177 HGNC:23649 PROVISIONAL 734372 BMPR1A bone morphogenetic protein receptor, type IA The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008] 10 10 10 q22.3 82519484 82687979 + 88516396 88684945 + 86756639 86925188 + 1580863;734650;1600589;1600590;1600591;5129472;6480464;6484113;6907045;7240710;8554872;8699517 11381269;11536076;16525031;16685657;19324947 10051328;10504300;10692589;10712517;10850425;10880444;10881198;11139569;11241215;11263668;11266516;11278302;11282024;11401330;11438941;11580864;12065756;12135884;12136244;12417513;12477932;12620973;12630959;12857866;15064755;15148321;15235019;15252450;15351706;15489334;15611116;15621726;15657086;15940369;16198295;16226113;16341674;16385451;16436528;16436638;16613856;16672363;16886151;17081983;17101085;17356069;17513295;17573831;17624341;17873119;18160401;18178612;18184661;18262054;18436533;18510548;18667463;18823382;18937504;19244313;19438883;19453261;19463221;19502417;19758997;19773747;19953087;20301642;20346360;20360068;20587070;20634891;20663871;20673479;20693682;20734064;20843829;20927405;21139048;21152263;21258932;21412070;21543859;21640116;21791611;21872883;21906983;21987572;22210872;22293501;22519633;22623531;22710174;22886282;22939624;22971142;23000965;23399955;23433720;23593444;23969729;24008158;24140593;24398041;24850914;7644468;7791754;8006002;8397373;8592941;8605097;8702914;8707881;9136927;9389648;9525338;9547239;9663660;9730621;9738003;9950587 657 P36894 AB451405;ABBA01033683;ABBA01033684;ABBA01033685;ABBA01033686;ABBA01033687;ABBA01033688;AC021036;AC025268;AC067750;AK291764;AMYH02023483;AMYH02023484;AMYH02023485;AMYH02023486;BC028383;BM819272;CH471142;DQ786215;HI961666;NG_009362;NM_004329;Z22535 AAH28383;ABM82450;ABM85640;BAF84453;BAG70219;CAA80257;CBY84973;EAW80320;NP_004320;P36894 Hs.524477 1651848;1667410;1675027;1676940;1685229;1699860;1730405;1764371;1765095;1795442;5113823 BMPR1A_487;D10S1454;D10S1551E;D10S231E;RH103537;RH70975;RH80090;RH93276;SHGC-147966;SHGC-148622;STS-N27448 10q23del;ACVRLK3;ALK-3;ALK3;BMPR-1A;CD292;SKR5 BMP type-1A receptor;OTTHUMP00000020014;activin A receptor, type II-like kinase 3;activin receptor-like kinase 3;bone morphogenetic protein receptor type-1A;bone morphogenetic protein receptor, type 1a;serine/threonine-protein kinase receptor R5 APPROVED protein-coding HGNC:1076 03192 174900;601299;610069 REVIEWED 7372848 BMS1P17 BMS1 pseudogene 17 14 14 19670792 19681016 - 19306690 19316914 + 16344560 101101776 AL589743;AMYH02028785;AMYH02028786;BC040855;DA741885;NR_073460 Hs.617315;Hs.643607 LINC00516 pseudo ENSG00000228294 HGNC:49162 VALIDATED 7382741 BMS1P15 BMS1 pseudogene 15 15 15 15 q11.1 1 2969 - 20359029 20366079 + 20153776 20160826 + 11779832;12477932;15164053;16572171 642311 ABBA01018798;AC126603;AMYH02029982;BC107108;NG_011423 Hs.356398 pseudo HGNC:49160 INFERRED 1347648 BMS1P3 BMS1 pseudogene 3 10 10 10 q23.2 82755010 82763193 + 88752010 88760192 + 86992253 87000435 + 12477932 414217 ABBA01033689;AL136982;AMYH02023489;NG_006111 BMS1LP3 bms1l pseudogene 3 pseudo HGNC:23651 INFERRED 7380119 BMS1P16 BMS1 pseudogene 16 22 15 15 q11.2 5677423 5678127 + 21365634 21372686 + 21160305 21167357 + 11779832 727914 AC126335;AMYH02030005;NG_011424 pseudo HGNC:49161 INFERRED 7365578 BMS1P19 BMS1 pseudogene 19 2 2 2 q13 104593469 104594689 + 110424709 110425926 + 109667132 109668349 + 11779832 100131577 ABBA01008996;AC011753;AMYH02004522;CH471182;NG_011527 EAW53856 pseudo HGNC:49163 INFERRED 1345179 BMS1P2 BMS1 pseudogene 2 10 10 q11.22 47225563 47243511 - 46786851 46804367 + 11779832;15146197;16344560 414216 ABBA01000700;AK094691;AL391137;AL731733;AMYH02022926;AMYH02022927;AMYH02022928;BC008503;BC041413;BC051298;BG474237;CD684353;CN417542;CN417548;DA115686;NR_072978 Hs.463017;Hs.711898 2111133 D10S500E BMS1LP2 bms1l pseudogene 2 pseudo HGNC:23650 VALIDATED 1346998 BMS1P18 BMS1 pseudogene 18 14 14 q11.2 19894369 19904572 + 19083134 19093337 - 6480464 414763 AL589182;AMYH02028796;BC040855;NR_073459 Hs.617315 AL589743.2;C14orf17;LINC00516 long intergenic non-protein coding RNA 516 APPROVED pseudo HGNC:19436 VALIDATED 7377916 BMS1P8 BMS1 pseudogene 8 16 16 16 p11.2 28170122 28189081 - 33485634 33504599 - 33683167 33702132 - 11779832 653557 AC136428;AC142384;AC243983;NG_011420 pseudo HGNC:49152 INFERRED 1351957 BMS1P4 BMS1 pseudogene 4 10 10 10 q22.2 68742221 68773594 - 75458909 75490272 - 73699151 73730514 - 11779832;12477932 729096 ABBA01020313;AC022400;AC073389;AK294783;AMYH02023338;BC046139;BC063124;BC099910;BX955228;CH471083;NR_026592 BAG57908;EAW54513 Hs.709171 5015861;5037552;5114334;7185938 D10S16;D8S2279;RH25401 BMS1LP4 pseudo ENSG00000271816 HGNC:23652 PROVISIONAL 2305709 BMS1P20 BMS1 pseudogene 20 This locus appears to be a transcribed pseudogene of the BMS1 homolog of yeast ribosome assembly protein on chromosome 10 that has arisen from duplication of the 3' half of the parent gene. Frameshifts and premature stop codons are present in this pseudogene compared to the parent gene. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21.[provided by RefSeq, Mar 2009] 22 22 22 q11.22 6471978 6485282 + 22652463 22677324 + 22298098 22322968 + 11779832;12477932;14702039;16344560;9074928 96610 ABBA01055083;AC245060;AK090629;BC033148;BC133659;BX641141;CH878729;D87003;D87018;DB021899;DB472458;NG_000002;NR_027293;XR_430414 EAW53962 Hs.449601 APPROVED pseudo ENSG00000236850 HGNC:49153 14302 REVIEWED 1348554 BMS1P5 BMS1 pseudogene 5 INTERACTS WITH copper(2+) sulfate 10 10 10 q11.22 345 2919 - 48927373 48952629 - 46786733 46811989 + 6480464 11779832;12477932;16344560 399761 ABBA01000699;AK307333;AL450334;AL603982;AL731733;AL832069;AMYH02022926;AMYH02022927;AMYH02022928;BC017177;BC024278;BC065722;BC131568;BX641006;CR936774;DA245014;NR_003611;NR_026566;XR_432570;XR_432571 Hs.571994;Hs.711898;Hs.743373 5016832;5020740;5021228;5021872;5022578;5022651;5037552;5096328;5107782;5111598;5115168;5124345;5128005 D11S2921;D1S1423;D1S3475;D8S2279;GDB:312794;L17809;RH40140;RH48185;RH65856;SHGC-153454;SHGC-37191;WI-15534;sY3084 BMS1LP1;BMS1LP5;BMS1P1;bA556L1.3 bms1l pseudogene 5 pseudo ENSG00000204177 HGNC:23653 PROVISIONAL 1346721 BMS1P6 BMS1 pseudogene 6 10 10 q11.22 48185839 48203788 + 46786851 46804367 + 11779832;12477932;14702039;15146197;16344560 642826 AC245513;AK094691;AL391137;AL591684;BC008503;BC041413;BC051298;BG474237;CD684353;CN417542;CN417548;DA115686;DB072344;NR_024495;NR_072978 Hs.463017;Hs.711898 2111133;5021228;5022578;5037552;5111598 D10S500E;D1S1423;D8S2279;GDB:312794;RH65856 BMS1LP2;BMS1LP6;BMS1P2;bA302K17.2 pseudo HGNC:23654 VALIDATED 7380867 BMS1P9 BMS1 pseudogene 9 9 9 q13 66960618 66964189 + 63055646 63059217 + 11779832;12477932 653458 AL591379;NG_011528 pseudo HGNC:49155 INFERRED 1321747 BNC2 basonuclin 2 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); zinc ion binding (inferred); INVOLVED IN endochondral bone growth (inferred); mesenchyme development (inferred); palate development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 9 9 9 p22.2 16336475 16798503 - 16409501 16870786 - 16409503 16870800 - 6480464;8554872 12477932;14702039;14988505;15081112;15949438;16344560;16891417;16942855;18029348;18519826;19471022;19648919;19670330;19875614;19913121;20379614;20585627;20628086;20852632;20881960;21294870;21368915;21642636;21750727;21903422;23052946;23934736 54796 B1APH0;F5H586;H0Y4J1;H0Y6W5;Q06HB9;Q6ZN30;S4R351;S4R3K9;S4R3R8;S4R3X5 ABBA01065255;ABBA01065256;ABBA01065257;ABBA01065258;ABBA01065259;ABBA01065260;AK000050;AK025882;AK092247;AK131398;AK299073;AK304745;AL162418;AL449983;AL450003;AL450105;AMYH02019221;AMYH02019222;AMYH02019223;AMYH02019224;AMYH02019225;AMYH02019226;AMYH02019227;AW188023;AY438376;BC037160;BX641030;CR933649;DA494074;DB282126;DQ884933;DQ884934;DQ884936;DQ884937;DQ884938;DQ884939;DQ884940;DQ884941;DQ884942;DQ884944;DQ884945;DQ884946;DQ884947;DQ884948;KF458907;NM_017637;R69412;XM_006716784;XM_006716785;XM_006716786;XM_006716787;XM_006716788;XM_006716789;XM_006716790 AAI56478;AAI72513;AAR99389;ABI78982;ABI78983;ABI78984;ABI78985;ABI78986;ABI78987;ABI78988;ABI78989;ABI78990;ABI78991;ABI78992;ABI78993;ABI78994;ABI78995;BAA90908;BAB15269;BAC03837;BAD18545;BAG61139;BAG65504;CAI45950;NP_060107;Q6ZN30;XP_006716847;XP_006716848;XP_006716849;XP_006716850;XP_006716851;XP_006716852;XP_006716853 Hs.656581;Hs.693436;Hs.740070 1335204;1342375;1689819;1703926;1724771;1728153;1751125;1751659;1763197;1764609;1779458;1788932;2160866;2183737;2187543 D16S3069;D9S1089;D9S1839;G63499;RH122592;RH48002;RH92550;SHGC-104991;SHGC-105641;SHGC-146925;SHGC-148199;SHGC-153441;SHGC-83634;STS-H97910;UniSTS:224603 BSN2;DKFZp686A01127;FLJ20043;FLJ34928 BNC2 {ECO:0000312|HGNC:HGNC:30988};OTTHUMP00000021079;OTTHUMP00000125286;OTTHUMP00000126958;zinc finger protein basonuclin-2 protein-coding ENSG00000173068 HGNC:30988 12274 608669 VALIDATED 1343586 BMS1P7 BMS1 pseudogene 7 10 10 q11.22 49258300 49268060 - 48050278 48060016 - 11779832 100133265 AC245041;AL603966;NG_011418 BMS1LP7;KIAA0187;bA164N7.1 pseudo HGNC:23655 INFERRED 1319162 BNC1 basonuclin 1 The protein encoded by this gene is a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Alternative splicing of this gene results in multiple transcript variants, and multiple polyadenylation sites are indicated.[provided by RefSeq, Jul 2014] 15 15 15 q25.2 60632983 60659894 + 83924655 83953468 - 83255903 83284716 - 1580863;6480464;8554872 10449744;10462520;10524234;10839715;11076863;11802773;12477932;1332044;15146197;15694340;16891417;19430199;20154727;20484983;20531302;21741828;23707421;24088737;24454902;8034748;9099851;9151672;9223293;9687312;9727087 646 F5GY04;Q01954 ABBA01029436;ABBA01029437;AC103876;AI921950;AK302992;AMYH02030928;CH471188;CN260997;DB051299;HY045483;L03427;NM_001301206;NM_001717;U59692;U59693;U59694;XM_005272447;XM_006720641 AAA35584;AAB53028;AAI11599;BAH13871;EAW62424;NP_001288135;NP_001708;Q01954;XP_005272504;XP_006720704 Hs.459153 2142250;2219036 BNC1__4457;D15S670 BNC;BSN1;HsT19447 OTTHUMP00000190870;zinc finger protein basonuclin;zinc finger protein basonuclin-1 APPROVED protein-coding ENSG00000169594 HGNC:1081 11799 601930 REVIEWED 1605440 BMX BMX non-receptor tyrosine kinase This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Sep 2009] X X X p22.2 19634383 19690144 + 15482356 15574652 + 15500777 15556529 + 6480464;8554872 10196179;10688651;10962576;11013262;11278797;11331870;11382770;11751885;11877430;12370298;12477932;12573241;14532277;14676838;14981536;15207703;15342556;15489334;16025104;16186805;16273093;16912182;16932810;17474147;17823122;18025155;18029348;18196928;18292575;18303054;18402776;18413754;19464057;19951526;20056178;20206622;20559570;20864667;21339702;21408190;21471444;21481791;21832049;21906983;21988832;22449076;22939624;22974441;23940030;24606948;24785188;7970727;8650201;8790141;9323053;9373245;9520419 660 P51813 ABBA01071313;ABBA01071314;ABBA01071315;ABBA01071316;ABBA01071317;ABBA01071318;ABBA01071319;AC097625;AF045459;AK291824;AK313568;AMYH02038914;BC016652;BP236451;BQ226991;CB998198;CH471074;NG_013227;NM_001721;NM_203281;U08341;X83107;XM_006724510 AAA17744;AAC08966;AAH16652;ABM81985;ABM87813;BAF84513;BAG36341;CAA58169;EAW98889;EAW98890;NP_001712;NP_975010;P51813;XP_006724573 Hs.495731 1342221;1702438;1703124;1734270;2156084;2159856;2162475;2171151;7186352 D4S2464E;DXS1053;DXS7016;DXS7320;DXS7664;DXS7970;DXS7972;SHGC-24715 ETK;PSCTK2;PSCTK3 BTK-like on X chromosome;Etk/Bmx cytosolic tyrosine kinase;NTK38 tyrosine kinase;OTTHUMP00000022964;OTTHUMP00000022965;OTTHUMP00000022966;bone marrow tyrosine kinase gene in chromosome X protein;cytoplasmic tyrosine-protein kinase BMX;epithelial and endothelial tyrosine kinase APPROVED protein-coding ENSG00000102010 HGNC:1079 02111 300101 REVIEWED 1348562 BNIP3P1 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1 14 14 14 q12 8599094 8600625 + 28733635 28735166 + 28264429 28265960 + 319138 ABBA01061372;AL139023;AMYH02028913;NG_002516 1683401;2123419;2142467 RH70571;RH71202;RH80015 BNIP3P APPROVED pseudo HGNC:19922 INFERRED 1350585 BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. This protein counteracts the apoptotic inducer BNIP3 and may play a role in tumor suppression. [provided by RefSeq, Mar 2011] 8 8 8 p21 25202906 25233027 + 26239894 26270644 + 26383007 26413128 + 1580863;2314029;6480464;7483579;7483577 14530762;19641503;23771482 10381623;10467396;11230166;12477932;12606722;12663450;14720367;15489334;15607964;16169070;16189514;16219518;17081983;17928295;18048346;18551130;18670647;19060904;19064571;19273585;20010802;20819778;21139048;21264228;21890473;21900206;21988832;22292033;22645275;22895009;22984526;23000965;23142642;9523198;9867803;9973195 665 B4DTN1;E5RFE9;H0YBC7;O60238;Q6IBV1 AA946755;AB004788;ABBA01005571;ABBA01005572;AC011726;AC022911;AF060922;AF067396;AF079221;AF255051;AF452712;AF536326;AK290213;AK300286;AK300727;AK307195;AK315870;AK316315;AL132665;AMYH02017660;AMYH02017661;AMYH02017662;BC001559;BC009603;BF337139;BQ719112;BT019500;BT019501;CD244492;CD558918;CH471080;CR456701;NM_004331;XM_005273617 AAC27723;AAD03589;AAF70290;AAG43134;AAH01559;AAH09603;AAL50978;AAN04051;AAV38307;AAV38308;ACE86738;ACE87424;ADZ15845;BAA28692;BAF82902;BAF98761;BAG62043;BAG62400;BAH14686;CAG32982;CAI46217;EAW63576;NP_004322;O60238;XP_005273674 Hs.131226 1658784;1666960;1699560;1723225;1739193;1770524;1771798 D8S1556;D8S1934;D8S2073;RH103380;RH122296;RH36518;STS-Z40756 BNIP3a;NIP3L;NIX BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like;BCL2/adenovirus E1B 19 kDa protein-interacting protein 3A;BCL2/adenovirus E1B 19-kd protein-interacting protein 3a;NIP3-like protein X;OTTHUMP00000125280;OTTHUMP00000225446;OTTHUMP00000225447;OTTHUMP00000225448;OTTHUMP00000225568;adenovirus E1B19k-binding protein B5 APPROVED protein-coding ENSG00000104765 HGNC:1085 07288 605368 REVIEWED 1350913 BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. This protein contains a BH3 domain and a transmembrane domain, which have been associated with pro-apoptotic function. The dimeric mitochondrial protein encoded by this gene is known to induce apoptosis, even in the presence of BCL2. [provided by RefSeq, Mar 2011] 10 10 10 q26.3 127425370 127439605 - 133781204 133795435 - 131967700 131981931 - 634550;1580863;2314028;2314029;5128796;6480464;6484113;7483575 14648660;14972662;19641503;20157446;7954800 10381623;10625696;10891486;12215374;12477932;12690108;12879018;15164054;15289340;15328198;15489334;15560738;15709167;15856026;16002567;16169070;16189514;16217754;16219518;16357180;16765911;16799636;16803523;17207965;17255267;17360363;17394490;17576382;17576813;17600828;17638546;17638890;17729412;17786027;17928295;18029348;18059169;18092960;18163427;18309324;18359286;18371312;18476629;18551130;18728663;18838203;19060904;19088195;19273585;19339613;19505343;19535684;19593445;19641497;19668230;19690192;19799812;19956881;20026130;20082478;20100468;20201926;20368736;20436456;20437871;20637734;20801175;20855536;20963496;20973794;20978322;21139048;21152877;21210091;21293853;21318419;21409489;21573703;21711117;21792176;21906983;21911457;21963094;21987236;21988832;22173550;22292033;22302006;22455137;22458929;22505714;22639046;23000965;23142642;23160801;23209295;23216071;23291726;23364257;23504944;23538299;23579274;23667095;23688833;23728617;23851496;23979608;24211581;24250222;24402046;7478990;8125298;9396766;9575197;9867803;9973195 664 B4DHJ7;Q12983 ABBA01006172;AF002697;AK222626;AK295136;AL162274;AL732395;AMYH02024059;AY886764;BC009342;BC021989;BC067818;BC080643;CH471066;CQ975900;NM_004052;U15174 AAC00022;AAC16738;AAH21989;AAH67818;AAH80643;AAW62256;ADQ33204;BAD96346;BAG58159;CAI45349;EAW49143;NP_004043;Q12983 Hs.144873 1645003;1683401;1712080;1795446;2123419;2142467;5015881;5037552 BNIP3_1789;D8S2279;G54089;GDB:335751;RH70571;RH71202;RH80015;STS-R06072 NIP3 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3;OTTHUMP00000020752 APPROVED protein-coding HGNC:1084 04482 603293 REVIEWED 1319009 BNIP2 BCL2/adenovirus E1B 19kDa interacting protein 2 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. [provided by RefSeq, Mar 2011] 15 15 15 q22.2 36843018 36869598 - 59951345 59981728 - 59659146 59689529 - 634550;1580863;6480464;7240533 20626350;7954800 10381623;10551883;10799524;10954711;11741952;11744098;12477932;12901880;12944407;14702039;15489334;15652341;15923648;16189514;17961507;20677014;20704564;20855536;21130087;21139048;21890473;22623531;22863883;23000965;24816145;7478990 663 H7C096;H7C142;J3KN59;Q12982 ABBA01038956;ABBA01038957;AC092755;AK125533;AK299628;AK308237;AMYH02030549;AY268590;BC002461;BX378770;CH471082;DC425485;NG_029765;NM_004330;U15173;XM_005254607 AAC00021;AAH02461;AAP03429;ABM82882;ABM86068;BAG61556;EAW77575;EAW77576;NP_004321;Q12982;XP_005254664 Hs.592515;Hs.646490 1683162;1721427;1736498;1783248;1789805;2106963;2124801;2137189;2187032;5107615 BNIP2_7248;D15S1347;D15S703E;G59565;RH65383;SHGC-154946;SHGC-57103;STS-U15173;WI-7305;csnpbnip2-pcr1-1 BNIP-2;NIP2 BCL2/adenovirus E1B 19 kDa protein-interacting protein 2;OTTHUMP00000163602 APPROVED protein-coding ENSG00000140299 HGNC:1083 04481 603292 REVIEWED 8548001 BNIP3P13 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 13 19 19 20163537 20174134 + 20052054 20063325 + 101060192 ABBA01051347;AC006539;AMYH02035774 pseudo HGNC:49693 MODEL 8548117 BNIP3P10 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 10 19 19 19 19886922 19887481 - 19981533 19982092 - 19870724 19871283 - 100421695 ABBA01051343;AC011477;AMYH02035769;NG_024159 pseudo HGNC:49690 INFERRED 5128958 BNIP3P2 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 2 22 22 16627944 16628475 - 15349488 15350019 + 100421754 AP000540;NG_027406 pseudo HGNC:39655 INFERRED 8548090 BNIP3P17 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 17 19 19 19 20238819 20239402 + 20332687 20333270 + 20221878 20222461 + 100421704 ABBA01051351;AC011447;AMYH02035775;NG_024230 pseudo HGNC:49697 INFERRED 732440 BNIP1 BCL2/adenovirus E1B 19kDa interacting protein 1 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011] 5 5 5 q33-q34 168604859 168624796 + 172571445 172591390 + 173144442 173164387 + 2314029;634759;6480464 12714334;19641503 10217402;12477932;1332047;15272311;15489334;17207965;19064571;21139048;21832049;21906983;21931693;22020994;22306654;22639046;23000965;23896122;7478990;7954800 662 H0YBK7;Q12981 ABBA01044028;AC008378;AF083956;AF083957;AF083958;AMYH02012771;AMYH02012772;AU311051;AY216799;AY246554;BC010959;BP384034;CH471062;NM_001205;NM_013978;NM_013979;NM_013980;U15172 AAC00020;AAC33124;AAC33125;AAC33126;AAH10959;AAO61090;AAO91805;ADQ32671;EAW61405;EAW61406;EAW61407;EAW61408;EAW61409;EAW61410;EAW61411;EAW61412;EAW61413;NP_001196;NP_053581;NP_053582;NP_053583;Q12981 Hs.145726 1652136;1795444;2183520 BNIP1_1465;D5S2469;SHGC-10682 NIP1;SEC20;TRG-8 BCL2/adenovirus E1B 19 kDa protein-interacting protein 1;OTTHUMP00000161077;OTTHUMP00000161078;OTTHUMP00000161079;OTTHUMP00000223580;transformation-related gene 8 protein;vesicle transport protein SEC20 APPROVED protein-coding ENSG00000113734 HGNC:1082 04480 603291 REVIEWED 8548369 BNIP3P12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 12 19 19 19 19959899 20025432 + 20054512 20120046 + 19943703 20009237 + 100421703 ABBA01051344;ABBA01051345;AC006539;AC007204;AMYH02035771;AMYH02035772;AMYH02035773;NG_024228 pseudo HGNC:49692 INFERRED 8548394 BNIP3P20 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 20 19 19 19 20368442 20369011 + 20462317 20462886 + 20351508 20352077 + 100421705 ABBA01051351;AC078899;AMYH02035778;NG_024231 pseudo HGNC:49700 INFERRED 8548316 BNIP3P14 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 14 19 19 19 20102834 20103395 - 20197825 20198385 - 20087016 20087576 - 100421696 ABBA01051348;AC011447;AMYH02035774;NG_024162 pseudo HGNC:49694 INFERRED 8548314 BNIP3P21 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 21 19 19 19 p12 20399308 20399880 - 20493215 20493787 - 20382406 20382978 - 100131306 ABBA01051352;AC078899;AMYH02035778;NG_021744 pseudo HGNC:49701 INFERRED 8548317 BNIP3P22 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 22 19 19 19 20433397 20433949 + 20599320 20599872 + 20416514 20417066 + 100421706 ABBA01051352;AC008554;AMYH02035786;NG_024232 pseudo HGNC:49702 INFERRED 8548292 BNIP3P23 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 23 19 19 19 20460093 20460627 - 20626019 20626553 - 20443213 20443747 - 100421697 ABBA01051353;AC008554;AMYH02035787;NG_024163 pseudo HGNC:49703 INFERRED 8548405 BNIP3P25 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 25 19 19 19 21335879 21336406 + 21500963 21501490 + 21318161 21318688 + 100421707 ABBA01051371;AC022432;AMYH02035803;NG_024243 pseudo HGNC:49705 INFERRED 8548370 BNIP3P34 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 34 19 19 19 p12 22790680 22791248 + 22956655 22957223 + 22773853 22774421 + 100128849 ABBA01051416;AC008626;AMYH02035831;NG_021761 pseudo HGNC:49714 INFERRED 8548404 BNIP3P24 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 24 19 19 19 20801846 20802399 - 20967405 20967958 - 20784599 20785152 - 100421698 ABBA01051360;AC010329;AMYH02035795;NG_024164 pseudo HGNC:49704 INFERRED 8548000 BNIP3P29 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 29 19 19 19 22080881 22081451 - 22248630 22249200 - 22065828 22066398 - 100421700 ABBA01051401;AC011482;AMYH02035819;NG_024169 pseudo HGNC:49709 INFERRED 5128993 BNIP3P4 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 4 9 9 q21.11 69823284 69823839 - 64810866 64811421 - 100289028 ABBA01148606;AL359955;NG_021623 pseudo HGNC:39657 INFERRED 8548368 BNIP3P26 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 26 19 19 19 21538877 21539427 - 21704148 21704698 - 21521346 21521896 - 100421699 ABBA01051378;AC010615;AMYH02035805;NG_024167 pseudo HGNC:49706 INFERRED 5128959 BNIP3P3 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 3 18 18 15247455 15247983 - 15247456 15247984 - 100421736 AMYH02034362;AP005901;NG_026278 pseudo HGNC:39656 INFERRED 8548456 BNIP3P27 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 27 19 19 19 21841704 21842219 + 22009564 22010081 + 21826762 21827279 + 100421708 ABBA01051395;AC010617;AMYH02035812;NG_024245 pseudo HGNC:49707 INFERRED 8548315 BNIP3P41 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 41 4 4 49413 51415 - 49549 51521 - 101059988 ABBA01019322;AC253576;AMYH02008544 pseudo HGNC:49721 MODEL 8548119 BNIP3P40 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 40 19 19 24281229 24281782 - 24098427 24098980 - 100421702 ABBA01051454;AC092279;AMYH02035852;NG_024173 pseudo HGNC:49720 INFERRED 8548420 BNIP3P39 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 39 19 19 23981730 23982298 - 23798928 23799496 - 100421701 ABBA01051445;AC139769;AMYH02035846;NG_024172 pseudo HGNC:49719 INFERRED 5128995 BNIP3P6 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 6 14 14 14 q11.2 1316 1847 + 19195192 19195723 + 18418715 18419246 + 16311020 100129777 AMYH02037971;CR383658;NG_022850 pseudo HGNC:39659 INFERRED 5128962 BNIP3P5 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 5 15 15 15 19373573 19374288 + 42605882 42606585 + 42313684 42314387 + 100421724 ABBA01038379;AC022468;AMYH02030282;NG_025378 pseudo HGNC:39658 INFERRED 7321403 BNIP3P7 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 7 13 13 19061462 19066600 + 18487322 18492460 + 101927265 AL138715;AMYH02027600 pseudo HGNC:49101 MODEL 8179422 BNIP3P8 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 8 19 19 19 23397509 23398065 + 23563119 23563675 + 23380317 23380873 + 100421710 ABBA01051432;AC022409;AMYH02035839;NG_024253 pseudo HGNC:49675 INFERRED 8548158 BNIP3P38 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 38 19 19 19 23250682 23251215 + 23419120 23419653 + 23236318 23236851 + 100421709 ABBA01051428;AC092329;AMYH02035835;NG_024252 pseudo HGNC:49718 INFERRED 1344806 BOD1L1 biorientation of chromosomes in cell division 1-like 1 ENCODES a protein that exhibits DNA binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus; INTERACTS WITH clorgyline; copper(2+) sulfate; ethyl methanesulfonate 4 4 4 p16.1 14036574 14095541 - 13570362 13629334 - 13568738 13627710 - 6480464;8554872 10718198;12477932;14702039;15489334;17081983;17370265;18654987;20379614;20972266;21139048;21963094;22108332;23000965;23667531;24816145 259282 F8WDD0;H0Y9Y2;Q8NFC6 AB037748;ABBA01032544;ABBA01032545;AC006445;AF528529;AK025361;AK025965;AK090534;AK122806;AK298130;AL137350;AL137652;AMYH02008784;AMYH02008785;BC016987;BC043603;BC065546;BC087835;BX648206;CH471069;NM_148894;XM_005248150;XM_005248151;XM_006713958 AAH16987;AAH65546;AAH87835;AAI72451;AAM94279;BAA92565;BAB15299;BAG60410;CAB70705;EAW92716;NP_683692;Q8NFC6;XP_005248207;XP_005248208;XP_006714021 Hs.744935 1341187;1647368;1664331;1696782;1739055;2124505;2132152;2132154;2144154;2175011 D4S1364;D4S2311;D4S259;D4S2669;D4S2702;D4S3194;RH16627;SHGC-36204;SHGC-51764;SHGC-82934 BOD1L;FAM44A;FLJ33215;KIAA1327 OTTHUMP00000115820;biorientation of chromosomes in cell division protein 1-like;biorientation of chromosomes in cell division protein 1-like 1;family with sequence similarity 44, member A APPROVED protein-coding ENSG00000038219 HGNC:31792 08156 VALIDATED 1345757 BOD1L2 biorientation of chromosomes in cell division 1-like 2 INTERACTS WITH copper(2+) sulfate; 2,2',5,5'-tetrachlorobiphenyl (ortholog); benzo[a]pyrene (ortholog) 18 18 18 q21.31 51531573 51534919 + 54814293 54817639 + 57147062 57150408 + 737633;6480464 12477932 15489334;17938248 284257 B4DX39;Q8IYS8 ABBA01056127;AC100775;AK127964;AK301799;AMYH02034784;BC021740;BC035018;NM_001257964 BAG54606;BAG63251;NP_001244893;Q8IYS8 Hs.127882 1699774;2169609 D5S2321;RH103493 BOD1P;FAM44C;MGC33608 biorientation of chromosomes in cell division 1 pseudogene;biorientation of chromosomes in cell division protein 1-like 2;family with sequence similarity 44, member C;putative biorientation of chromosomes in cell division protein 1 pseudogene;putative biorientation of chromosomes in cell division protein 1-like 2;putative protein FAM44C APPROVED protein-coding ENSG00000228075 HGNC:28505 VALIDATED 2946885 BOK-AS1 BOK antisense RNA 1 2 2 2 q37.3 236152251 236166494 - 242483799 242498558 - 241544384 241559143 - 19287972;23535732 100379249 ABBA01006052;ABBA01006053;ABBA01006054;AC110299;AMYH02006114;AMYH02006115;FJ185168;NR_033346 Hs.621128 BOK-AS;NCRNA00151 BOKAS;NAToB APPROVED ncrna HGNC:35125 PROVISIONAL 1319839 BNIPL BCL2/adenovirus E1B 19kD interacting protein like The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 1 q21.3 124118004 124135383 + 151009029 151020076 + 151036553 151047600 + 6480464 11741952;12477932;12681488;12901880;14702039;15112343;15489334;16143817;16344560;16710414;17562024;20383146;20800603;21988832;9973195 149428 A2A492;F8W685;Q7Z465 ABBA01049367;ABBA01049368;AF193056;AK092595;AL590133;AMYH02001869;AMYH02001870;AY033000;AY078983;AY078984;BC027868;BC074779;BC074780;CD687603;CH471121;CU451236;DB202257;NG_029720;NM_001159642;NM_138278;XM_005244924 AAG22484;AAH27868;AAH74779;AAH74780;AAK54348;AAL85483;AAL85484;EAW53483;EAW53484;NP_001153114;NP_612122;Q7Z465;XP_005244981 Hs.591473 1674806;1697834;1701632;1735380;1770794;2170512;2187329;5037552 A004A12;D1S1855E;D1S2426;D8S2279;RH102442;RH104459;SHGC-57518;SHGC-57939 BNIP-S;BNIPL-1;BNIPL-2;BNIPL1;BNIPL2;BNIPS;PP753 BNIP-2 similar;OTTHUMP00000033115;OTTHUMP00000033116;OTTHUMP00000192926;bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein APPROVED protein-coding ENSG00000163141 HGNC:16976 16557 611275 REVIEWED 1605311 BOC BOC cell adhesion associated, oncogene regulated The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014] 3 3 3 q13.2 111339962 111414896 + 112929850 113006306 + 113211482 113287459 + 5510025;5490966;6480464;6484113;8554872 18772397;20844013 11782431;12477932;12634428;12720294;12975309;14702039;15520228;15923648;16169070;16647304;20053908;20306291;20519495;23259602;23535732;8889548 91653 C9J2L7;C9J7V2;C9J9M5;C9JZ38;H7C4U8;H7C5J2;Q96DN7;Q9BWV1 AA716090;ABBA01061654;ABBA01061655;AC026329;AK056359;AK074556;AK090455;AK309055;AL133599;AMYH02007446;AY027658;AY358328;BC032071;BC034614;BC075829;BC136390;BM673254;BX647184;CH471052;DA247804;DA721979;DB287293;DB349011;NM_001301861;NM_001301867;NM_033254;XM_005247891;XM_005247892;XM_005247893;XM_005247894;XM_005247896;XM_005247897;XM_005247898 AAH34614;AAI36391;AAK14795;AAQ88694;ADZ15974;BAB71163;BAC03436;BAC11057;EAW79643;EAW79644;EAW79645;EAW79646;NP_001288790;NP_001288796;NP_150279;Q9BWV1;XP_005247948;XP_005247949;XP_005247950;XP_005247951;XP_005247953;XP_005247954;XP_005247955 Hs.591318 1681556;1689769;2111025;2157338 D3S1493E;RH126917;RH93384;SHGC-57979 CDON2 Boc homolog;OTTHUMP00000214765;OTTHUMP00000214766;brother of CDO;brother of CDON;cell adhesion associated, oncogene regulated 2 APPROVED protein-coding ENSG00000144857 HGNC:17173 608708 VALIDATED 1348370 BOD1 biorientation of chromosomes in cell division 1 INVOLVED IN mitotic nuclear division (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); kinetochore (inferred); INTERACTS WITH afimoxifene; cyclosporin A; valproic acid 5 5 5 q35.2 169066406 169075924 - 173034148 173043706 - 173607145 173616703 - 737633;6480464 12477932 15489334;16344560;17938248;20881960;21832049;21890473;21906983;21963094;23000965;23535732;24157919 91272 C9J8U9;C9JNZ5;H7C5I4;Q96IK1 ABBA01044019;AC010339;AK301982;AMYH02012780;AY303777;BC003114;BC007436;BQ881883;CH471062;DA506589;DA953541;NM_001159651;NM_138369;XM_005266008 AAH03114;AAH07436;AAP76182;BAG63390;EAW61396;NP_001153123;NP_612378;Q96IK1;XP_005266065 Hs.425091 1848775;2147745;2169609 A002Q30;D5S2321;WI-12001 FAM44B OTTHUMP00000161101;OTTHUMP00000213248;biorientation defective 1;biorientation defective protein 1;biorientation of chromosomes in cell division protein 1;family with sequence similarity 44, member B protein-coding ENSG00000145919 HGNC:25114 13309 VALIDATED 1605757 BOLA2 bolA family member 2 This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 3732 5103 + 29452601 29466285 - 29453593 29454964 - 6480464 12477932;12665801;14718656;15489334;17620599;18548201;18781797;19738201;21145461;21565611;21906983;22505724;22623428;23084401;23398456;23402259 552900 Q9H3K6 AC133555;AC245044;AF060511;AK027255;AK295153;BC022832;BC062756;BC104642;BC130401;BC130403;BC144688;BG032591;NM_001031827 AAG43129;AAH22832;AAI30402;AAI30404;AAI44689;BAG58169;NP_001026997 Hs.444600;Hs.655267;Hs.745100 5017266;5022450;5112199;5113701 D10S275;L18506;RH102308;RH76583 BOLA2A;My016 BolA-like protein 2;BolA-like protein 2 member A;bolA homolog 2;bolA-like 2 APPROVED protein-coding ENSG00000183336 HGNC:29488 613182 REVIEWED 737138 BOK BCL2-related ovarian killer The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011] 2 2 2 q37.3 236166128 236181243 + 242498146 242513553 + 241558731 241574138 + 70678;1580863;2313975;6480464;1624238 15964663;17322918;9356461 10579309;10811653;11034351;12477932;15102863;15146197;15342556;15489334;15775999;15868100;16302269;16772296;19095301;19287972;19942931;20171287;20673843;21900206;21906983;22623531;23535732;23884412;24113155;24806027;9535847 666 Q9UL32;Q9UMX3 ABBA01006054;ABBA01006055;ABBA01006056;AC110299;AC133528;AF174487;AMYH02006115;BC006203;BC017214;BG118500;BI550157;BP332256;BT007272;BU855574;BX372066;BX395656;BX460019;CD368092;CH471063;CN279174;CN279175;H17007;NG_029488;NM_032515;XM_005247037;XM_005247039 AAD51719;AAP35936;AAY14684;AAY14917;ABM84167;ABM87570;EAW71268;EAW71269;EAW71270;EAW71271;EAW71272;EAW71273;EAW71274;NP_115904;Q9UMX3;XP_005247094;XP_005247096 Hs.293753;Hs.734656 1682079;1690900;1740179;2126819;2153849 D2S2142;G42020;RH78529;RH80183;RH91690 BCL2L9;BOKL;MGC4631;bcl2-L-9;hBOK OTTHUMP00000164606;bcl-2-like protein 9;bcl-2-related ovarian killer protein APPROVED protein-coding ENSG00000176720 HGNC:1087 05657 605404 REVIEWED 1606296 BOLA1 bolA family member 1 FOUND IN extracellular region (inferred); mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; atrazine 1 1 1 q21 122987125 122988318 + 149871110 149872348 + 149899557 149900795 + 6480464 10810093;12107410;12477932;14718656;15489334;16710414;16964243;17207965;17353931;18029348;18548201;20877624;21832049;22746225 51027 Q9Y3E2 ABBA01049314;AC239868;AF151901;AK313014;AL591493;BC002771;BC063405;CA389141;CH471121;CS072310;NM_016074;XM_005245233;XM_006711348 AAD34138;AAH63405;ADQ33110;BAG35849;CAI12571;CAI93448;EAW53599;EAW53600;EAW53601;EAW53602;NP_057158;Q9Y3E2;XP_005245290;XP_006711411 Hs.13880 1660592;1853404;2133185;2183505 A003N45;RH18368;STS-Z40409;WI-16272 CGI-143;MGC75015;RP11-196G18.18 OTTHUMP00000013910;OTTHUMP00000013911;bolA homolog 1;bolA-like 1;bolA-like protein 1;hBolA APPROVED protein-coding ENSG00000178096 HGNC:24263 13036 613181 VALIDATED 5490477 BOLA3-AS1 BOLA3 antisense RNA 1 (head to head) INTERACTS WITH valproic acid 2 2 2 74206393 74208415 + 74375108 74379516 + 74147981 74152389 + 6480464 12477932;14702039;16344560 100507171 ABBA01075598;AC073263;AK123453;AMYH02004088;BC007916;BC008757;BC015635;BC030102;DA356576;HG494205;HG494206;NG_031910;NR_045634;NR_045636;NR_045637 Hs.503348 2170420 WI-21646 AC073263.4;FLJ41459 APPROVED ncrna ENSG00000225439 HGNC:42922 VALIDATED 1605447 BOLA2B bolA family member 2B This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. This duplicated region contains a complete copy of the short splice variant of the BOLA2 gene and a partial copy of the long splice variant of the BOLA2 gene. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 3732 5103 + 30204256 30205627 - 30192935 30194306 - 6480464 12477932;12665801;14718656;15489334;17620599;21145461;22505724;22623428;22939629 654483 H3BPT9;H3BV85;Q9H3K6 ABBA01013099;AC106782;AC244227;BC137532;BC137534;NM_001039182 AAI37533;AAI37535;AAI48565;AAI53145;NP_001034271;Q9H3K6 Hs.647333 BOLA2 BolA-like protein 2 member B;bolA homolog 2B;bolA-like 2B;bolA-like protein 2;bolA-like protein 2B APPROVED protein-coding ENSG00000169627 HGNC:32479 REVIEWED 1347316 BPESC1 blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1 3 3 3 q23 137249298 137266864 + 138823027 138844009 + 139104185 139125167 + 6480464;8554872 10995571;12477932;15489334 60467 Q9GZL8 ABBA01059065;ABBA01059066;AC069525;AF196864;AF196865;AMYH02007785;AMYH02007786;AMYH02007787;BC119686;BC119687;CH471052;HG496091;KF459860;KF459861;KF459862;KF459863;KF459865;NR_026783 AAG23726;AAG23727;EAW79046;Q9GZL8 Hs.512673 1696522 SHGC-83243 NCRNA00187 ncrna ENSG00000232416 HGNC:13228 16559 VALIDATED 1606380 BOLA3 bolA family member 3 This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011] 2 2 2 p13.1 74193755 74206266 - 74362528 74375039 - 74135401 74147912 - 6480464;8699517;8554872;7240710 12477932;14718656;15815621;18548201;20379614;21944046;22562699;24334290;24816145 388962 Q53S33;Q8N338 ABBA01075598;AC073263;AI652095;AMYH02004088;BC017744;BC028282;BC042036;BC046531;BU600037;CH471053;DQ225187;NG_031910;NM_001035505;NM_212552 AAH28282;AAI48672;AAI53209;AAX93059;ABB04094;EAW99699;EAW99700;NP_001030582;NP_997717;Q53S33 Hs.61472 2121215;2170420 SGC32756;WI-21646 MMDS2 OTTHUMP00000202551;OTTHUMP00000202552;bolA homolog 3;bolA-like 3;bolA-like protein 3 APPROVED protein-coding ENSG00000163170 HGNC:24415 14209 613183;614299 REVIEWED 1321585 BOP1 block of proliferation 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); regulation of cell cycle; FOUND IN PeBoW complex; ribonucleoprotein complex; INTERACTS WITH 5-fluorouracil; afimoxifene; all-trans-retinoic acid 8 8 8 q24.3 141660871 141689893 - 145486056 145515120 - 144262100 144291438 - 1580863;6480464 11237751;11390653;11522832;11790298;12048210;12429849;12477932;15225545;15489334;15635413;16043514;16565220;16738141;16804918;16964243;17081983;17353269;17353931;18809582;19615732;21139048;21145461;21252943;21386990;21520196;21890473;21900206;21906983;21963094;22178446;22586326;22863883;22939629;23166591;24250222;24457600;24654937;24816145;8590280;9829985 23246 Q14137 AB060694;ABBA01005217;ABBA01005218;AC110280;AC145291;AC231662;AC233992;AK024840;AK290677;AK293719;AK310015;AK315612;AMYH02018975;AMYH02018976;AMYH02018998;BC001086;BC005160;BC007274;BC013787;BC013980;BC017674;BC073813;BC098446;BE280443;BQ961780;CH471162;D50914;NM_015201 AAH01086;AAH05160;AAH07274;AAH13787;AAH13980;AAH17674;AAH73813;AAH98446;ABM87814;ABW03699;BAA09473;BAB70666;BAF83366;BAG37981;BAG57150;EAW82133;NP_056016;Q14137 Hs.645279 2148557;5095892 RH25347;WI-17683 KIAA0124 BOP1 {ECO:0000255|HAMAP-Rule:MF_03027};OTTHUMP00000228465;block of proliferation 1 protein;block of proliferation 1 protein {ECO:0000255|HAMAP-Rule:MF_03027};block of proliferation 1 pseudogene;ribosome biogenesis protein BOP1;ribosome biogenesis protein BOP1 {ECO:0000255|HAMAP-Rule:MF_03027} protein-coding ENSG00000261236 HGNC:15519 16558 610596 VALIDATED 1352689 BOLL boule-like RNA-binding protein This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q33 192347376 192406705 - 198591603 198651036 - 197726879 197786312 - 1580863;6480464 11390979;12477932;12499397;12511597;14702039;15066460;15070965;15379971;15489334;15705409;16001084;17114206;17207965;18997786;19342699;19417033;19865085;21474125;24086306;8657280 66037 F2Z2G3;F8WD91;Q8N9W6 ABBA01062490;AC011997;AF272858;AI424966;AK058099;AK093453;AK097795;AK098824;AK302817;AM295005;AMYH02005523;AMYH02005524;BC033674;CH471063;HC044489;NM_001284358;NM_001284361;NM_001284362;NM_033030;NM_197970;XM_006712715;XM_006712716;XM_006712717 AAH33674;AAK58689;AAX93045;ADQ32687;BAB71664;BAC04171;BAG64016;CAL25726;CBH30574;EAW70171;EAW70172;EAW70173;NP_001271287;NP_001271290;NP_001271291;NP_149019;NP_932074;Q8N9W6;XP_006712778;XP_006712779;XP_006712780 Hs.169797 1691260;1794698 PMC34683P2;RH98575 BOULE;OTTHUMP00000163625;OTTHUMP00000163626;OTTHUMP00000163627;OTTHUMP00000205805;bol, boule-like;protein boule-like APPROVED protein-coding ENSG00000152430 HGNC:14273 606165 VALIDATED 1316844 BPHL biphenyl hydrolase-like (serine hydrolase) This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009] 6 6 6 p25 4347797 4382302 + 3118926 3153833 + 3118692 3153198 + 6480464;8554872 12477932;12732646;14574404;15832508;16028355;16316342;18163890;18256025;20237496;20877624;21890473;2393862;24654937;24816145;7759552;8889548;9721218 670 B4DML3;F2Z2Q1;H7C0M3;Q49AI2;Q86WA6 ABBA01048621;AJ001980;AJ617684;AK297518;AK314909;AL031963;AL832502;AMYH02012994;BC037778;BC106901;BM977067;CH471087;DC352501;NM_004332;NR_026648;NR_026649;NR_026650;X57653;X81372 AAH37778;AAI06902;BAG37421;BAG59925;CAA40859;CAA57137;CAE85120;EAW55119;EAW55120;EAW55121;EAW55122;EAW55123;NP_004323;Q86WA6 Hs.10136 1650686;1655909;2145691;2177581;2219038;5014063;5016781 BPHL__4461;D15S1390;D6S1890;D6S2134;RH46711;SHGC-35542;SHGC-67307 BPH-RP;MGC125930;MGC41865 MCNAA;OTTHUMP00000015958;OTTHUMP00000211210;VACVASE;biphenyl hydrolase-like protein;biphenyl hydrolase-related protein;breast epithelial mucin-associated antigen;valacyclovir hydrolase;valacyclovirase APPROVED protein-coding ENSG00000137274 HGNC:1094 04403 603156 REVIEWED 1605438 BPGM 2,3-bisphosphoglycerate mutase 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009] 7 7 7 q33 129068953 129101988 + 134331531 134364568 + 134646779 134679816 + 6480464;6907045;7240710;8699517;8554872 12477932;12690205;1320611;1387804;14702039;152321;15258155;15489334;16344560;17052986;17207965;18624398;21045285;21890473;21988832;22939629;23000965;24816145;2542247;2824335;2844822;3023066;3036106;6313356;8440681;8889548;9308888;9832630 669 C9JH23;P07738 AB209044;ABBA01001110;AC009276;AK097778;AK315439;AMYH02016809;BC017050;BM090687;BU608668;BU664387;BX473275;CB994648;CF242942;CH236950;CH471070;DA701935;DB047822;DB049554;HH770041;HH770403;M23068;NG_012921;NM_001293085;NM_001724;NM_199186;X04327;XM_006716096 AAA51840;AAH17050;ADQ31825;BAD92281;BAG37827;BAG53525;CAA27858;CBX85738;CBX85919;EAL24067;EAW83821;EAW83822;EAW83823;EAW83824;NP_001280014;NP_001715;NP_954655;P07738;XP_006716159 Hs.198365 1647068;1711448;1776002;1786220;1852853;1858387;2140183;2152912;2172630 BPGM;D7S2792;D7S2829;D7S697;RH16501;SHGC-107197;SHGC-34608;STS-X04327;WI-17404 DPGM 2,3-bisphosphoglycerate mutase, erythrocyte;2,3-bisphosphoglycerate synthase;2,3-diphosphoglycerate mutase;BPG-dependent PGAM;OTTHUMP00000207868;OTTHUMP00000207869;OTTHUMP00000207870;bisphosphoglycerate mutase;erythrocyte 2,3-bisphosphoglycerate mutase APPROVED protein-coding ENSG00000172331 HGNC:1093 01961 222800;613896 REVIEWED 1605625 BORA bora, aurora kinase A activator BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008] 13 13 13 q22.1 54200530 54228790 + 73301981 73330328 + 72727749 72756198 + 6480464 11935316;12477932;14702039;15057823;15489334;16169070;16890155;18378770;18521620;18566290;18615013;19487276;19596235;19615732;20360068;20923822;22990118;23592782;23970419;24067368;24338364 79866 B5LMG6;H3BLY2;Q6PGQ7 ABBA01050335;ABBA01050336;AK026277;AK291496;AK298608;AK300758;AL138695;AMYH02028251;BC007119;BC025367;BC044213;BC056876;BM923278;BX648605;CF529405;CH471093;EU834129;NM_001286746;NM_001286747;NM_024808;XM_006719868 AAH07119;AAH25367;AAH44213;AAH56876;ACE86935;ACE86991;ACE87006;ACE87621;ACE87680;ACE87694;ACH72049;BAB15426;BAF84185;BAG60792;BAG62424;EAW80514;EAW80515;NP_001273675;NP_001273676;NP_079084;Q6PGQ7;XP_006719931 Hs.643464 1662198;1677280;1738439;1739623;2126764;2169355;2176579;2180629 1730;D13S1090E;D13S1212E;RH15742;RH67956;RH92143;SHGC-34349;WI-20990 C13orf34;FLJ22624;RP11-342J4.2 OTTHUMP00000018495;aurora borealis;hsBora APPROVED protein-coding ENSG00000136122 HGNC:24724 13389 610510 VALIDATED 1351299 BPIFA2 BPI fold containing family A, member 2 ENCODES a protein that exhibits lipopolysaccharide binding; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region; extracellular vesicular exosome; INTERACTS WITH 3-methylcholanthrene; benzo[a]pyrene; calcitriol 20 20 20 q11.21 28509850 28523113 + 31749660 31769223 + 33161854 33181417 + 6480464;8554872 11780052;11971875;12477932;12975309;15489334;16740002;17207965;18221458;19199708;19499239;21787333;21833535 140683 Q6ZNV9;Q96DR5 ABBA01019238;AF432917;AK130543;AK130550;AK291854;AL121901;AMYH02036945;AX061621;AY359055;BC065726;CH471077;NM_080574;XM_005260281 AAH65726;AAL28113;AAQ89414;ADQ32051;BAC85378;BAF84543;CAC24982;EAW76335;NP_542141;Q96DR5;XP_005260338 Hs.125960 5017170;5020948;5022578;5109281 D1S1423;D1S1425;G35510;L29953 C20orf70;PSP;SPLUNC2;bA49G10.1 BPI fold-containing family A member 2;OTTHUMP00000030628;OTTHUMP00000164442;parotid secretory protein;short palate, lung and nasal epithelium carcinoma associated 2;short palate, lung and nasal epithelium carcinoma-associated protein 2 APPROVED protein-coding ENSG00000131050 HGNC:16203 12781 VALIDATED 736029 BPIFA1 BPI fold containing family A, member 1 This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014] 20 20 20 q11.2 28577699 28585012 + 31823802 31831115 + 33235996 33243309 + 1580863;6480464 11018263;11251963;11425234;11780052;11788998;11821380;11971875;12409287;12477932;12753706;12874788;12920053;12975309;15158712;15313462;15489334;16195890;16196087;16364440;16713569;17207965;17785110;17988392;18049866;18204429;18245229;18513434;18646695;19119597;19336370;19541605;19650845;20161732;20360068;20519934;20855242;20949060;21200090;21632717;21787333;21787339;21787346;21805676;22213098;22676062;22889411;23132494;23371910;23472073;23499554;23644997;23721177;23741370;23759037;23810363;24043776;24124190;24342548;24850914 51297 A6XMV5;Q9NP55 AB024937;ABBA01019237;AF158745;AF172993;AF214562;AF417256;AF417257;AF421369;AF439448;AK292778;AL121901;AMYH02036945;AY359020;BC012549;CH471077;DQ846869;NM_001243193;NM_016583;NM_130852;XR_430298 AAF70860;AAF82622;AAG13653;AAH12549;AAL87636;AAO12198;AAO12199;AAO12200;AAQ89379;ABI63356;ADQ31860;BAA93633;BAF85467;EAW76327;EAW76328;EAW76329;NP_001230122;NP_057667;NP_570913;Q9NP55 Hs.211092 1341027;1759185;5095944;5124755 D20S195;GDB:313139;RH99153;SHGC-151139 LPLUNC3;LUNX;NASG;PLUNC;SPLUNC1;SPURT;bA49G10.5 BPI fold-containing family A member 1;OTTHUMP00000030625;OTTHUMP00000030626;OTTHUMP00000030627;ligand-binding protein RYA3;lung-specific protein X;nasopharyngeal carcinoma-related protein;palate lung and nasal epithelium clone protein;palate, lung and nasal epithelium associated;palate, lung and nasal epithelium carcinoma associated;secretory protein in upper respiratory tracts;short PLUNC1;tracheal epithelium enriched protein;tracheal epithelium-enriched protein;von Ebner protein Hl APPROVED protein-coding ENSG00000198183 HGNC:15749 07594 607412 REVIEWED 1347929 BPIFA3 BPI fold containing family A, member 3 ENCODES a protein that exhibits lipid binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 20 20 20 q11.21 28559029 28569457 + 31805130 31815612 + 33217310 33227806 + 8554872 11780052;11971875;12477932;14739326;21787333 128861 Q9BQP9 ABBA01019237;AI073399;AI638623;AL121901;AMYH02036945;AW082233;BC041904;BC066354;BF966133;CH471077;DB446335;HC006830;HC044549;HY050111;NM_001042439;NM_178466;XR_244132 AAH66354;CBH19221;CBH30604;EAW76330;EAW76331;EAW76332;EAW76333;NP_001035904;NP_848561;Q9BQP9 Hs.360989 C20orf71;MGC44525;SPLUNC3 BPI fold-containing family A member 3;OTTHUMP00000030630;OTTHUMP00000030631;short long palate, lung and nasal epithelium carcinoma associated 3;short palate, lung and nasal epithelium carcinoma-associated protein 3 APPROVED protein-coding ENSG00000131059 HGNC:16204 12782 VALIDATED 1322016 BPIFB2 BPI fold containing family B, member 2 This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 28349284 28365392 + 31595384 31611515 + 33007578 33023709 + 1580863;6480464;8554872 11018263;11780052;11971875;12185532;12477932;12837268;12975309;14739326;15340161;15342556;15489334;16740002;20237496;21787333 80341 Q8N4F0 ABBA01019245;ABBA01019246;AF465765;AK027068;AK172819;AK304064;AL121756;AMYH02036942;AY358723;BC034415;BP333980;CH471077;NG_016714;NM_025227 AAH34415;AAM73983;AAQ89085;ABM83406;ABM86617;BAD18788;BAG64971;EAW76341;NP_079503;Q8N4F0 Hs.257045 BPIL1;C20orf184;LPLUNC2;RYSR;dJ726C3.2 BPI fold-containing family B member 2;BPI-like 1;OTTHUMP00000030612;bactericidal/permeability-increasing protein-like 1;long palate, lung and nasal epithelium carcinoma-associated protein 2 APPROVED protein-coding ENSG00000078898 HGNC:16177 10690 614108 REVIEWED 1352137 BPI bactericidal/permeability-increasing protein This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has bactericidal activity on gram-negative organisms. [provided by RefSeq, Jul 2008] 20 20 20 q11.23 33641353 33674701 + 36932552 36965907 + 38304150 38337505 + 1580079;1580863;6480464;8554872 15758620 11373419;11420435;11780052;11891303;12477932;12521224;12710851;12738651;12784398;12913926;14623259;15009116;15342556;15590754;16282362;16380496;16861658;16893388;17012258;17239348;17483073;17488601;17675509;17678885;17898994;19056867;19275920;19423540;19692168;19702878;19913121;20174761;20237496;20406964;20412700;20438785;20463618;20541026;20628086;20889312;21272798;21463973;21787345;22409502;23346184;23626859;2501794;2722846;3667613;7517398;8330906;8409400;8432532;9188532;9240454;9616176 671 A2A2A1;A2A2A2;H0Y738;P17213 ABBA01006644;ABBA01006645;ABBA01052519;ABBA01052520;ABBA01156452;AF322588;AI436120;AK296568;AK315328;AL359555;AL391095;AL499625;AL583962;AMYH02037059;AX713278;AX746123;AX752831;BC032230;BC040955;BP306215;CH471077;CQ800679;DQ414688;J04739;NM_001725;XM_005260522;XM_005260523;XR_244148;XR_430313;Y14215;Y14216;Y14217;Y14218;Y14219;Y14220;Y14221;Y14222;Y14223;Y14224;Y14225;Y14226;Y14227;Y14228;Y14229 AAA51841;AAG42844;AAH40955;ABD66755;BAG37729;BAG59188;CAD88641;CAD97475;CAD99178;CAG28072;EAW76035;NP_001716;P17213;XP_005260579;XP_005260580 Hs.529019 1780442;1855187;2148258;2150649;2217072 BPI_2849;D20S1064;SGC32792;SHGC-12397;stbA2202H1A BPIFD1;CAP 57;rBPI BPI fold containing family D, member 1;OTTHUMP00000030962;OTTHUMP00000030963;bactericidal permeability-increasing protein;recombinant BPI holoprotein, rBPI APPROVED protein-coding ENSG00000101425 HGNC:1095 00174 109195 REVIEWED 1604466 BPIFB3 BPI fold containing family B, member 3 ENCODES a protein that exhibits lipid binding (inferred); FOUND IN cytoplasm; INTERACTS WITH dibutyl phthalate (ortholog); lead diacetate (ortholog) 20 20 20 q11.21 28397115 28415310 + 31643230 31661434 + 33055424 33073628 + 6480464 11780052;11971875;12477932;12837268;14739326;17353931;20237496;21787333 359710 P59826;Q14DE0 ABBA01019245;AF549189;AL121756;AMYH02036942;BC113398;BC113400;CH471077;NM_182658 AAI13399;AAI13401;AAP84989;ADR83194;EAW76338;NP_872599;P59826 Hs.472442 C20orf185;LPLUNC3;RYA3;dJ726C3.4 BPI fold-containing family B member 3;OTTHUMP00000030614;ligand-binding protein RYA3;long palate, lung and nasal epithelium carcinoma associated 3;long palate, lung and nasal epithelium carcinoma-associated protein 3 APPROVED protein-coding ENSG00000186190 HGNC:16178 16644 615717 PROVISIONAL 2303462 BPIFA4P BPI fold containing family A, member 4, pseudogene ENCODES a protein that exhibits lipid binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH atrazine; benzo[a]pyrene (ortholog) 20 20 20 q11.21 28535301 28552159 + 31781411 31798268 + 33193605 33210462 + 6480464 11780052;12477932;12538848;14739326;15489334;17362520;18172302;21787333 317716 Q86YQ2 ABBA01019237;AL121901;AMYH02036945;AY180924;AY389991;AY389992;BC069128;BC069315;BC128240;BC128241;CH471077;NR_026760 AAO17728;EAW76334 Hs.434194 BASE;RP11-49G10.8 APPROVED pseudo ENSG00000183566 HGNC:20469 06359 607627 PROVISIONAL 5465740 BPIFB5P BPI fold containing family B, member 5, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 20 20 31904675 31917368 + 33316869 33329562 + 6480464 12887310;15106612;20210993;21787333 100505383 ABBA01019236;ABBA01019237;AL355392;AMYH02036945;NG_027787 pseudo HGNC:42177 INFERRED 1344811 BPIFB4 BPI fold containing family B, member 4 ENCODES a protein that exhibits lipid binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); extracellular region (inferred); INTERACTS WITH 4-(ethoxymethylene)-2-phenyloxazol-5-one (ortholog); clofibrate (ortholog); N-nitrosodiethylamine (ortholog) 20 20 20 q11.21 28423195 28453431 + 31669318 31699557 + 33081512 33111751 + 6480464;8554872 11780052;11971875;12837268;12887310;14739326;20237496;21787333 149954 F8WEG9;P59827 ABBA01019244;ABBA01019245;AF549190;AL121756;AMYH02036942;AMYH02036943;AMYH02036944;CH471077;NM_182519 AAI40294;AAI46506;AAP84990;EAW76336;EAW76337;NP_872325;P59827 Hs.38961 1658879;1673012;1705652 SHGC-83399;WI-18281;Z94439 C20orf186;LPLUNC4;RY2G5;dJ726C3.5 BPI fold-containing family B member 4;OTTHUMP00000030615;ligand-binding protein RY2G5;likely ortholog of rat probable ligand-binding protein RY2G5;long palate, lung and nasal epithelium carcinoma associated 4;long palate, lung and nasal epithelium carcinoma-associated protein 4 APPROVED protein-coding ENSG00000186191 HGNC:16179 16645 615718 VALIDATED 1343435 BPIFB1 BPI fold containing family B, member 1 The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 28624683 28651429 + 31870941 31897684 + 33283135 33309878 + 6480464;8554872 11780052;11971875;12477932;12874788;12975309;14702039;15489334;17207965;19056867;19212328;20237794;20360068;21787333;21900486;22767025;23650533;23708661;24107778 92747 A2A2R0;Q8TDL5 ABBA01019237;AF364078;AK127971;AK290243;AK310964;AK313176;AL121901;AL355392;AMYH02036945;AW449208;AY358595;BC008429;CD696225;CH471077;NM_033197 AAH08429;AAM00283;AAQ88958;ADQ32773;BAC87212;BAF82932;BAG35993;EAW76326;NP_149974;Q8TDL5 Hs.65551 2121559 AL023479 C20orf114;LPLUNC1;MGC14597;VEMSGP BPI fold-containing family B member 1;OTTHUMP00000043374;long palate, lung and nasal epithelium carcinoma associated 1;long palate, lung and nasal epithelium carcinoma-associated protein 1;von Ebner minor salivary gland protein APPROVED protein-coding ENSG00000125999 HGNC:16108 12740 REVIEWED 1323145 BPIFB6 BPI fold containing family B, member 6 ENCODES a protein that exhibits lipid binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH fonofos; parathion; terbufos 20 20 20 q11.21 28373331 28385730 + 31619454 31631853 + 33031648 33044047 + 1580863;6480464 11780052;12185532;12477932;14739326;15790807;20237496;21787333 128859 F5H8I3;Q8NFQ5 ABBA01019245;AF465767;AL121756;AMYH02036942;AY927631;BC113122;CH471077;NM_174897 AAI40307;AAI46465;AAM73985;EAW76339;EAW76340;NP_777557;Q8NFQ5 Hs.375090 BPIL3;LPLUNC6 BPI fold-containing family B member 6;OTTHUMP00000030617;bactericidal/permeability-increasing protein-like 3 APPROVED protein-coding ENSG00000167104 HGNC:16504 16561 614110 VALIDATED 1344816 BPY2B basic charge, Y-linked, 2B This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10935977 10957180 + 26764151 26785354 + 24618004 24639207 + 6480464 12207887;12724276;12815422;14627543;15177557;9381176;9847074 442867 O14599;R4GMN0 AC010153;CH471236;NG_004755;NM_001002760 AAI40268;EAW55859;NP_001002760;O14599 Hs.632848 5021232;5107387 G34986;G65869 BPY2;BPY2C;VCY2;VCY2B OTTHUMP00000042594;basic charge, Y-linked 2;basic protein on Y chromosome 2;testis-specific basic protein Y 2;testis-specific basic protein on Y, 2;variable charge, Y-linked, 2;variably charged protein Y 2 APPROVED protein-coding ENSG00000183795 HGNC:25449 12530 REVIEWED 1323273 BPIFC BPI fold containing family C ENCODES a protein that exhibits lipid binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4,4'-diaminodiphenylmethane (ortholog); acrolein (ortholog) 22 22 22 q12.3 16612005 16655541 - 32809834 32860429 - 32413847 32464442 - 1580863;6480464;8554872 10591208;12185532;12477932;14739326;17562024;23793025 254240 F5H3G0;Q5TI88;Q8NFQ6 ABBA01055375;ABBA01055376;ABBA01055377;ABBA01055378;AF465766;AK301685;AL021937;AMYH02038266;AMYH02038267;BC062656;BC131582;CH471095;CK823453;CU456409;NM_174932;XM_005261485;XM_005261486 AAI31583;AAM73984;BAG63157;EAW60022;NP_777592;Q8NFQ6;XP_005261542;XP_005261543 Hs.372939;Hs.736771 1800086;1805846;1806058;1809680;1811308;1816898;1819708;1821792;1823926;1826672;1827460;1828594;1831034;1831634;1833628;1833736;1833910;1834154;1834340;1834544;1834672;1834970;1835026;1835254;1837140;1837498;1837808;1840650;1840706;1841002;1841142;1842504;1842902;1842970;1843140;1843256;1843806;1844210;1844302;1844854;1845436;1845688;2013754;2013756;2013758;2013760;2013762;2013764;2013766;2013768;2013770;2013772;2013774;2013776;2013778;2013780;2013782;2013784;2013786;2013788;2013790;2013792;2013794;2013796;2013798;2013800;2013802;2013804;2013806;2013808;2013810;2013812;2013814;2013816;2013818;2013820;2013822;2013824;2013826;2013828;2013830;2013832;2013834;2013836;2013838;2013840;2013842;2013844;2013846;2013848;2013850;2013852;2013854;2013856;2013858;2013860;2013862;2013864;2013866;2013868;2013870;2013872;2013874;2013876;2013878;2013880;2013882;2013884;2013886;2013888;2013890;2013892;2013894;2013896;2013898;2013900;2013902;2013904;2013906;2013908;2013910;2013912;2013914;2013916;2013918;2013920;2013922;2013924;2013926;2013928;2013930;2013932;2013934;2013936;2013938;2013940;2013942;2013944;2013946;2013948;2013950;2013952;2013954;2013956;2013958;2013960;2013962;2013964;2013966;2013968;2013970;2013972;2013974;2013976;2013978;2013980;2013982;2013984;2013986;2013988;2013990;2013992;2013994;2013996;2013998;2014000;2014002;2014004;2014006;2014008;2014010;2014012;2014014;2014016;2014018;2014020;2014022;2014024;2014026;2014028;2014030;2014032;2014034;2014036;2014038;2014040;2014042;2014044;2014046;2014048;2014050;2014052;2014054;2014056;2014058;2014060;2014062;2014064;2014066;2014068;2014070;2014072;2014074;2014076;2014078;2014080;2014082;2014084;2014086;2014088;2014090;2014092;2014094;2014096;2014098;2014100;2014102;2014104;2014106;2014108;2014110;2014112;2014114;2014116;2014118;2014120;2014122;2098720;2098722;2098724;2098726;2098728;2098730;2098732;2098734;2098736;2098738;2098740;2098742;2098744;2098746;2098748;2098750;2098752;2098754;2098756;2098758;2098760;2098762;2098764;2098766;2098768;2098770;2098772;2098774;2098776;2098778;2098780;2098782;2098784;2098786;2098788 ECD00898;ECD03874;ECD03982;ECD05832;ECD06652;ECD09495;ECD10921;ECD11982;ECD13057;ECD14450;ECD14846;ECD15424;ECD16653;ECD16954;ECD17959;ECD18013;ECD18101;ECD18225;ECD18318;ECD18420;ECD18484;ECD18636;ECD18664;ECD18782;ECD19736;ECD19916;ECD20074;ECD21515;ECD21544;ECD21694;ECD21765;ECD22459;ECD22659;ECD22693;ECD22778;ECD22836;ECD23114;ECD23318;ECD23365;ECD23643;ECD23935;ECD24062;REN77816;REN77817;REN77818;REN77819;REN77820;REN77821;REN77822;REN77823;REN77824;REN77825;REN77826;REN77827;REN77828;REN77829;REN77830;REN77831;REN77832;REN77833;REN77834;REN77835;REN77836;REN77837;REN77838;REN77839;REN77840;REN77841;REN77842;REN77843;REN77844;REN77845;REN77846;REN77847;REN77848;REN77849;REN77850;REN77851;REN77852;REN77853;REN77854;REN77855;REN77856;REN77857;REN77858;REN77859;REN77860;REN77861;REN77862;REN77863;REN77864;REN77865;REN77866;REN77867;REN77868;REN77869;REN77870;REN77871;REN77872;REN77873;REN77874;REN77875;REN77876;REN77877;REN77878;REN77879;REN77880;REN77881;REN77882;REN77883;REN77884;REN77885;REN77886;REN77887;REN77888;REN77889;REN77890;REN77891;REN77892;REN77893;REN77894;REN77895;REN77896;REN77897;REN77898;REN77899;REN77900;REN77901;REN77902;REN77903;REN77904;REN77905;REN77906;REN77907;REN77908;REN77909;REN77910;REN77911;REN77912;REN77913;REN77914;REN77915;REN77916;REN77917;REN77918;REN77919;REN77920;REN77921;REN77922;REN77923;REN77924;REN77925;REN77926;REN77927;REN77928;REN77929;REN77930;REN77931;REN77932;REN77933;REN77934;REN77935;REN77936;REN77937;REN77938;REN77939;REN77940;REN77941;REN77942;REN77943;REN77944;REN77945;REN77946;REN77947;REN77948;REN77949;REN77950;REN77951;REN77952;REN77953;REN77954;REN77955;REN77956;REN77957;REN77958;REN77959;REN77960;REN77961;REN77962;REN77963;REN77964;REN77965;REN77966;REN77967;REN77968;REN77969;REN77970;REN77971;REN77972;REN77973;REN77974;REN77975;REN77976;REN77977;REN77978;REN77979;REN77980;REN77981;REN77982;REN77983;REN77984;REN77985;REN77986;REN77987;REN77988;REN77989;REN77990;REN77991;REN77992;REN77993;REN77994;REN77995;REN77996;REN77997;REN77998;REN77999;REN78000;stSG602755;stSG602756;stSG602758;stSG602759;stSG602760;stSG602761;stSG602762;stSG602764;stSG602765;stSG602766;stSG602767;stSG602768;stSG602769;stSG602770;stSG602771;stSG602772;stSG602773;stSG602774;stSG602775;stSG602776;stSG602777;stSG602778;stSG602779;stSG602780;stSG602781;stSG602782;stSG602783;stSG602784;stSG602785;stSG602786;stSG602787;stSG602788;stSG602789;stSG602790;stSG602791 BPIL2 BPI fold-containing family C protein;BPI-like 2;OTTHUMP00000064018;bactericidal/permeability-increasing protein-like 2 APPROVED protein-coding ENSG00000184459 HGNC:16503 16560 614109 VALIDATED 1350495 BPIFB9P BPI fold containing family B, member 9, pseudogene 20 20 q11.21 31934926 31942850 + 33347120 33355044 + 21787330;21787333 402016 ABBA01019235;AL355392;AMYH02036945;NG_029803;XM_377675 C20orf115;dJ1187J4.2;dJ1187J4.3 APPROVED pseudo HGNC:16109 INFERRED 1353479 BPY2C basic charge, Y-linked, 2C This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10935977 10957180 + 27177048 27198251 - 25030901 25052104 - 12207887;12724276;12815422;14627543;15177557;9381176;9847074 442868 O14599;R4GMN0 ABBA01017884;AC016728;NG_004755;NM_001002761 AAI48465;AAI56665;NP_001002761;O14599 Hs.664724 5021232;5107387 G34986;G65869 BPY2;BPY2B;VCY2;VCY2C OTTHUMP00000042658;basic charge, Y-linked 2;basic protein on Y chromosome 2;testis-specific basic protein Y 2;testis-specific basic protein on Y, 2;variable charge, Y-linked, 2;variably charged protein Y 2 APPROVED protein-coding ENSG00000185894 HGNC:18225 18658 REVIEWED 1352551 BPY2 basic charge, Y-linked, 2 This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. [provided by RefSeq, Jul 2008] Y Y Y q11 10935977 10957180 + 25130410 25151612 + 22984263 23005465 + 1580863;6480464 12207887;12724276;12815422;14627543;15177557;17511727;20039973;20301513;9381176;9847074 9083 O14599;R4GMN0 AC006366;AF000980;NG_004755;NG_009862;NM_004678 AAC51828;NP_004669;O14599 Hs.664724 5021232;5107387 G34986;G65869 BPY2A;BPY2B;BPY2C;VCY2;VCY2A OTTHUMP00000064811;basic protein on Y chromosome 2;testis-specific basic protein Y 2;testis-specific basic protein on Y, 2;variable charge, Y-linked, 2;variably charged protein Y 2 APPROVED protein-coding ENSG00000183753 HGNC:13508 02454 400013 REVIEWED 1346538 BRAFP1 BRAF pseudogene 1 X X X q13.3 75085812 75089167 + 74802489 74805844 + 75582654 75586009 + 1630826 286494 ABBA01059432;AC020717;AMYH02039790;NG_003108;X65188 BRAF2;BRAFPS2 APPROVED pseudo HGNC:18615 INFERRED 1315998 BPTF bromodomain PHD finger transcription factor This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008] 17 17 17 q24.3 62393834 62548958 + 65821644 65980494 + 67825528 67984378 + 1580863;6480464;9586059;9586057;9479075;9479074;8554872;9495920 21358755;23642229;24686119;9225734;9792236 10403843;10575013;10662542;10727212;11640947;12477932;12634501;14609955;14702039;15302935;15379550;15489334;16137655;16728976;16728978;17081983;17846119;18029348;18974875;19190132;19279002;19471022;20300178;20953165;21139048;21282530;21447625;21596426;21653943;21693764;21890473;21900206;22586326;22797724;22939629;23000965;23143601;24457600;24654937;24816145;25027693;7621746;8889548;8950167;8975731 2186 E7ETD6;E9PE19;F5GXF5;F5H176;J3KSK9;J3KSY0;J3QLW4;J3QQK4;J3QQQ8;Q12830 AB032251;ABBA01028976;ABBA01028977;ABBA01028978;ABBA01028979;ABBA01028980;ABBA01028981;AC006534;AC107377;AC134407;AK022081;AK022570;AK025776;AK027184;AK293224;AK296256;AK297281;AL833375;AMYH02033853;AMYH02033854;AMYH02033855;AMYH02033856;AMYH02033857;AMYH02033858;AMYH02033859;AY282495;BC037422;BC039881;BC050566;BC067234;BE464864;BQ716216;BU169920;BU176205;CF135401;CH471099;CV809604;KC877674;NM_004459;NM_182641;U05237;XM_005257150;XM_005257151;XM_005257152;XM_005257153;XM_005257154;XM_005257155;XM_005257156;XM_005257157;XM_005257158;XM_005257159;XM_005257160;XM_005257161;XM_005257162;XM_006721770;XM_006721771 AAA97522;AAH50566;AAH67234;AAP22284;BAA89208;BAB15686;BAG56763;BAG58970;BAG59752;EAW89038;EAW89039;NP_004450;NP_872579;Q12830;XP_005257207;XP_005257208;XP_005257209;XP_005257210;XP_005257211;XP_005257212;XP_005257213;XP_005257214;XP_005257215;XP_005257216;XP_005257217;XP_005257218;XP_005257219;XP_006721833;XP_006721834 Hs.444200 1678265;1697996;1701318;1739901;1767662;1797210;1855227;2108079;2153076;2177649 A007J48;D17S1772;FALZ;FALZ_8339;RH102527;RH104289;RH12419;RH36156;RH78180;SHGC-57348 FAC1;FALZ;NURF301 OTTHUMP00000163084;OTTHUMP00000163085;bromodomain and PHD domain transcription factor;bromodomain and PHD finger-containing transcription factor;fetal Alz-50 clone 1 protein;fetal Alz-50 reactive clone 1;fetal Alzheimer antigen;nucleosome remodeling factor, large subunit;nucleosome-remodeling factor subunit BPTF APPROVED protein-coding ENSG00000171634 HGNC:3581 03490 601819 REVIEWED 1348068 BRAP BRCA1 associated protein The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008] 12 12 12 q24 111705482 111749255 - 112079950 112123790 - 111642146 111685986 - 6480464 10508479;10777491;12477932;14724641;15340083;17550899;18332145;18380995;18577512;18781797;19009954;19152073;19198608;19549727;19698717;19713974;20040518;20139978;20639865;20686565;21139048;21145461;21301165;21372407;21670849;21857995;21890473;21906983;21963094;21983900;22022282;22053931;22078348;22085839;22122968;22493164;22493691;22505724;22965072;23000965;23105109;23356535;23526420;23554956;23707952;24097068;24454952;25015289;8889548;8955125;9497340 8315 J3KNN7;Q59H81;Q7Z569 AB208878;ABBA01019899;ABBA01019900;ABBA01019901;ABBA01019902;AC002996;AC137055;AF035620;AF035950;AK290379;AK299326;AK308279;AMYH02027210;AMYH02027211;AY332222;BC136698;BC136699;BU674276;CH471054;DB460078;NM_006768;XM_005253944 AAB88538;AAC24200;AAI36699;AAI36700;AAP93638;BAD92115;BAF83068;BAG61333;EAW97972;NP_006759;Q7Z569;XP_005254001 Hs.530940 1643966;1686488;1855656 RH66114;RH98922;WI-14855 BRAP2;IMP;RNF52 BRCA1-associated protein;OTTHUMP00000241647;OTTHUMP00000241648;OTTHUMP00000241649;RING finger protein 52;galectin-2-binding protein;impedes mitogenic signal propagation;renal carcinoma antigen NY-REN-63 APPROVED protein-coding ENSG00000089234 HGNC:1099 604986 REVIEWED 1350405 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008] 1 1 1 q41 193450034 193482399 - 220230824 220263249 - 220057482 220089896 - 6480464 10224133;12477932;14702039;15489334;20628624;21139048;21565611;21963094;22505724;24250222;24816145;25027693 10380 A6NF51;B7Z9J7;F8VRY7;F8VVW8;F8VZG4;F8W1J0;O95861;V9HWF9 ABBA01048082;ABBA01048083;ABBA01048084;ABBA01048085;AC103590;AF125042;AJ249339;AK021941;AK291943;AK298476;AK300777;AK315962;AMYH02002730;BC017801;BG114910;BG428446;CH471100;DC368603;EU794594;NM_001286149;NM_001286150;NM_001286151;NM_006085;XM_005272998;XM_005272999;XM_005273000;XM_005273004;XM_005273005;XM_006711114 AAD17329;AAH17801;ACJ13648;BAF84632;BAG60687;BAG62441;BAH14333;CAB65115;EAW93306;EAW93307;EAW93308;NP_001273078;NP_001273079;NP_001273080;NP_006076;O95861;XP_005273055;XP_005273056;XP_005273057;XP_005273061;XP_005273062;XP_006711177 Hs.406134 2134682;5016596;5037552 D8S2279;GDB:631802;SHGC-76373 HEL20;PIP 3'(2'),5'-bisphosphate nucleotidase 1;BPntase;OTTHUMP00000035564;OTTHUMP00000035565;OTTHUMP00000241397;PAP-inositol 1,4-phosphatase;PAP-inositol-1,4-phosphatase;bisphosphate 3'-nucleotidase 1;epididymis luminal protein 20 APPROVED protein-coding ENSG00000162813 HGNC:1096 06814 604053 VALIDATED 6769428 BPY2DP basic charge, Y-linked, 2D, pseudogene Y Y p11.2 7794130 7817040 - 7926089 7948999 - 100885797 ABBA01060178;ABBA01060179;AC010678;NG_032694 pseudo HGNC:38794 INFERRED 1352713 BRCA3 breast cancer 3 ASSOCIATED WITH Breast Cancer 3 (inferred) 7240710 10944226;11792833 60500 1340557 D13S1308 HGNC:18617 605365 1604470 BRCTD1 BRCT domain containing 1 q15 11230166;12477932;15632077 345499 AL050298;BC054885;BC070332;BC107571 AAH54885;AAH70332;AAI07572;CAB43397;Q3B7K4;Q6NSA5;Q6PHW9;Q9Y402 Hs.657315 BRCTx;DKFZp564C0469 protein-coding HGNC:25362 1606082 BRCA1P1 BRCA1 pseudogene 1 17 17 17 q21 37976945 37978829 - 41320087 41321971 - 43168070 43169954 - 10205276;11179671;11880951;19067158;21989022;8700509;8954804 394269 ABBA01006390;AC060780;AMYH02033451;NG_003183;NG_005905;U77841 LBRCA1;PsiBRCA1;pseudo-BRCA1 pseudo HGNC:28470 INFERRED 1318809 BRAT1 BRCA1-associated ATM activator 1 The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012] 7 7 7 p22.3 2546833 2564507 - 2577444 2595392 - 2537810 2555758 - 6480464;8699517;7240710;8554872 12477932;14702039;15342556;15489334;16196087;16452482;16964243;19471022;19946888;21139048;21693764;21890473;21906983;21963094;21987572;22279524;22505724;22863883;23000965;23251661;23383273;24073851 221927 F8WDN5;Q6PJG6 ABBA01039380;ABBA01039381;AC092488;AI963076;AK024482;AK131083;AK131097;AK311144;AL133088;AMYH02015076;AMYH02015077;AMYH02015078;BC007209;BC015632;BC023561;BC040704;BP363179;CH236953;CH471144;NG_032167;NM_152743;XM_005249642;XM_005249643;XM_005249644;XM_005249645;XM_006715657;XM_006715658 AAH07209;AAH15632;AAH23561;AAH40704;BAB15772;BAC85133;BAC85147;CAB61405;EAL23957;EAW87255;EAW87256;EAW87257;EAW87258;EAW87259;EAW87260;NP_689956;Q6PJG6;XP_005249699;XP_005249700;XP_005249701;XP_005249702;XP_006715720;XP_006715721 Hs.520623 1771476 IB3588 BAAT1;C7orf27;MGC22916;RMFSL BRCA1-associated protein required for ATM activation protein 1;HEAT repeat-containing protein C7orf27;OTTHUMP00000147633 APPROVED protein-coding ENSG00000106009 HGNC:21701 12914 614498;614506 REVIEWED 1344323 BRCC3 BRCA1/BRCA2-containing complex, subunit 3 This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011] X X X q28 154458427 154510104 + 154299695 154351349 + 155071420 155123074 + 6480464;9586066;9479061;8554872;9586067;8661242 18323671;24002223;24647359;24973494 11076863;12477932;1303175;14636569;14737182;15342556;15489334;15489336;16189514;16381901;17143545;17353931;17525341;17664283;18077395;19015238;19202061;19214193;19261746;19261748;19261749;19305427;19380743;19615732;20032457;20656689;20656690;21139048;21282113;21335604;21596366;21890473;21906983;21963094;21987572;22053931;22357538;22505724;22689573;22863883;22990118;23000965;23211528;23264621;24654937;24816145;8247530 79184 H7C413;H9KVA9;P46736;X6RJS7 ABBA01029116;ABBA01029117;ABBA01029118;ABBA01029119;ABBA01029120;ABBA01029121;ABBA01029122;ABBA01029123;ABBA01029124;ABBA01029125;ABBA01029126;AK298886;AK299194;AK310286;AK313544;AMYH02040865;AY438030;BC002999;BC006540;BP304352;BU902387;BX293995;BX470111;CH471172;NM_001018055;NM_001242640;NM_024332;S68015;X64643;XM_005274749;XM_005274750;XM_005274751;XM_006724846 AAB29005;AAH02999;AAH06540;AAR30498;BAG36320;BAG60999;BAG61237;CAA45917;CAL37707;EAW72632;EAW72633;EAW72634;EAW72635;EAW72636;EAW72637;NP_001018065;NP_001229569;NP_077308;P46736;XP_005274806;XP_005274807;XP_005274808;XP_006724909 Hs.558537 1681460;1800254;1800410;1802244;1806514;1809564;1813088;1813970;1816038;1816750;1817078;1817476;1820278;1820344;1822890;1823862;1824406;1824486;1827220;1827396;1828442;1828444;1829942;1831506;1831682;1833870;1836286;1837602;1837910;1838872;1841088;1842792;1843464;1844916;1845144;2103180;2103182;2103184;2103186;2103188;2103190;2103192;2103194;2103196;2103198;2103200;2103202;2103204;2103206;2103208;2103210;2103212;2103214;2103216;2103218;2103220;2103222;2103224;5022209 ECD00985;ECD01065;ECD02005;ECD04214;ECD05774;ECD07563;ECD08012;ECD09059;ECD09419;ECD09588;ECD09788;ECD11213;ECD11247;ECD12533;ECD13023;ECD13301;ECD13341;ECD14725;ECD14814;ECD15347;ECD15348;ECD16104;ECD16890;ECD16978;ECD18081;ECD19304;ECD19968;ECD20126;ECD20615;ECD21738;ECD22603;ECD22941;ECD23674;ECD23789;RH79163;STS-X64643;stSG604436;stSG604437;stSG604438;stSG604439;stSG604441;stSG604442;stSG604443;stSG604444;stSG604446;stSG604447;stSG604448;stSG604449;stSG604450;stSG604451;stSG604452;stSG604453;stSG604454;stSG604455;stSG604456;stSG604457;stSG604458;stSG604461;stSG604462 BRCC36;C6.1A;CXorf53;RP11-143H17.2 BRCA1-A complex subunit BRCC36;BRCA1/BRCA2-containing complex subunit 36;BRISC complex subunit BRCC36;OTTHUMP00000024245;OTTHUMP00000024246;OTTHUMP00000196187;OTTHUMP00000196188;lys-63-specific deubiquitinase BRCC36 APPROVED protein-coding ENSG00000185515 HGNC:24185 06465 300617 REVIEWED 1323531 BRD1 bromodomain containing 1 This gene encodes a protein of unknown function. The protein contains a bromodomain, a sequence motif often found in transcriptional coactivators, and localizes to the nucleus in testis and several other cell types. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34088639 34139967 - 50166931 50221196 - 49773283 49827548 - 1580863;6480464;9586108;9586358;9479075;9586096 16924267;19908236;22675730;24686119 10591208;10602503;12477932;1350857;15231748;15461802;16169070;16387653;16407974;16484223;17081983;18029348;19460752;19693800;19763615;20211142;20224553;20379614;21139048;21273288;21720545;21880731;21890473;22820306;23894747 23774 B4E3L9;J3KQ61;O95696 AB209216;ABBA01031328;ABBA01031329;ABBA01031330;AF005067;AK292428;AK302736;AK302845;AK304330;AK304776;AL049402;AL080149;AMYH02038584;BC030007;BC047508;CH471138;CR456408;CR936643;NM_014577;XM_005261470;XM_005261471;XM_005261472;XM_005261473;XM_006724210;XM_006724211;XM_006724212;XM_006724213;XM_006724214;XM_006724215;XM_006724216;XR_244359;XR_244360;Z98885 AAF34320;AAH30007;AAH47508;BAD92453;BAF85117;BAG63953;BAG64034;BAG65531;BAH14162;CAB45742;CAG30294;CAH56423;CAI56783;CAK54399;CAK54698;EAW73473;EAW73474;EAW73475;EAW73476;EAW73477;NP_055392;O95696;XP_005261527;XP_005261528;XP_005261529;XP_005261530;XP_006724273;XP_006724274;XP_006724275;XP_006724276;XP_006724277;XP_006724278;XP_006724279 Hs.127950 1644724;1646674;1711628;1711692;1732185;2107895 BRD1_8015;D22S1057;D22S55;G49315;G49348;WI-14811 BRL;BRPF1;BRPF2;DKFZp686F0325 BR140-like protein;OTTHUMP00000196965;OTTHUMP00000196966;OTTHUMP00000196967;OTTHUMP00000196968;bromodomain and PHD finger-containing protein 2;bromodomain-containing protein 1 APPROVED protein-coding ENSG00000100425 HGNC:1102 06848 604589 REVIEWED 1350574 BRD2 bromodomain containing 2 This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010] 6 6 6 p21.3 34485349 34498195 + 32936437 32949282 + 32968660 32981505 + 1358444;1580863;6480464;9479075;9586343;9586345;9586346;9586446 12830434;14563639;16516380;19883376;23950209;24686119 10934046;10965846;11502199;11983150;12145330;12366783;12477932;12600283;1350857;1352711;14574404;14702039;14731392;15146197;15302935;15342556;15489334;15548137;15949438;16344560;16512664;1663500;16786191;16940503;17081983;17111193;17148447;17166848;17848202;17999746;18406326;19204726;19322201;19454010;19766566;19851445;19953286;20036832;20048151;20587610;20709061;20811636;21139048;21608014;22035730;22766109;23115324;23255218;23455922;23756480;24048450;24049186;24146614;24250222;24733848;25049379;8595877;8781126;9373153;9693039 6046 E9PIQ3;E9PKQ9;H0Y6K2;H0Y799;H0YDJ7;J3QR72;P25440;U3KPW0;U3KQA6;X5CF57 ABBA01038136;ABBA01038137;AF107699;AI983495;AK056504;AL645941;AL662845;AL805913;AL832722;AL935042;AMYH02013475;BC000477;BC001885;BC007715;BC063840;BP271262;BX005422;BX647233;BX648109;BX664702;BX908719;CH471081;CN398334;CR752645;CR759798;CR759829;CR936909;D42040;DA127395;DA505721;DC379337;H11588;HY065625;M80613;NM_001113182;NM_001199455;NM_001199456;NM_001291986;NM_005104;NR_037625;S78771;X62083;X96670;XR_241911;XR_246967;XR_247375;XR_247406;XR_247427;Z84497;Z96104 AAA68890;AAD24963;AAH63840;BAA07641;CAA43996;CAA65450;CAC69989;CAH56171;CAH56179;CAH56208;EAX03662;EAX03663;EAX03664;EAX03665;EAX03666;NP_001106653;NP_001186384;NP_001186385;NP_001278915;NP_005095;P25440 Hs.75243 1789328;1790881;1791013;1856506;2119275;2143625;2160325;2175877;2182065;2189715;2190309;2190311;2190313;2190317;2190319;2190321;2190323;2190325;2190327;2190329;2190331;2190333;2190335;2190337;2190339;2190341;2217074;2220316;5127045 A008D22;BRD2_3857;CGCb250;CGCb278;CGCb369;CGCb535;CGCb688;CGCb741;CGCb781;CGCb787;CGCb908;CGCbi2;CGCbi4-2;CGCbpr;CGCbx13;CGCbx3;CGCbx4;CGCbx9;D6S1894;D6S2656;G67884;M2_2_23;NIB1722;RH18121;RH79050;RING3-CA;RING3CA;SGC31960;STS-T87864 D6S113E;DKFZp686N0336;FLJ31942;FSH;FSRG1;KIAA9001;NAT;RING3;RNF3 O27.1.1;OTTHUMP00000029350;OTTHUMP00000178757;OTTHUMP00000178758;OTTHUMP00000178759;bromodomain-containing 2;bromodomain-containing protein 2;female sterile homeotic-related gene 1;really interesting new gene 3 protein APPROVED protein-coding ENSG00000204256 HGNC:1103 03326 601540 REVIEWED 735645 BRAF B-Raf proto-oncogene, serine/threonine kinase This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q34 135155867 135346614 - 140415749 140624564 - 140719334 140924764 - 1580093;1580103;1580863;1580106;1626216;2315865;2315868;2298531;2315855;2298686;2293882;5133243;5133242;6480464;5686410;6484113;6907045;7240710;1600471;8554872;8699517 16424035;16439621;16474404;16508002;17126425;17310240;18060073;18098337;19079609;19289622;19955937;20951313;21277552;22177953 10205168;10454553;10712923;10854065;10869359;10931830;11032810;11278445;11325826;11410590;11510412;12068308;12138204;12194967;12198537;12447372;12460918;12460919;12464615;12477932;12619120;12620389;12644542;12670889;12690205;12697856;12753285;12778069;12810628;12821662;12824225;12853948;12855697;12879021;12881714;12893203;12917419;12931219;12960123;12970315;14500344;14501284;14507635;14513361;14522897;14534542;14602780;14612909;14618633;14639609;14654779;14668801;14688025;14691295;14695152;14695993;14702039;14719068;14722037;14724583;14734469;14961576;14966563;15001635;15009714;15009715;15014028;15035987;15077125;1508179;15104286;15126572;15140228;15145515;15150271;15161700;15161933;15179189;15186612;15191558;15263001;15273715;15277467;15302935;15313890;15324660;15330192;15331929;15339934;15373778;15488754;15489334;15489648;15538400;15577314;15630448;15632082;15653554;1565476;15702478;15705790;15710605;15761501;15765445;15778465;15782118;15791479;15791648;15824163;15842051;15880523;15904951;15935100;15968271;15980887;15994075;15998781;16007166;16007203;16015629;16024606;16079850;16096377;16098042;16123397;16129781;16143028;16144912;16172610;16174717;16179867;16179870;16181240;16181547;16199894;16268813;1630826;16354196;16354586;16361694;16364920;16371460;16373964;16376942;16382052;16397024;16413100;16417232;16452469;16452550;16462768;16487015;16537381;16547495;16601293;16618717;16687919;16691193;16721785;16728573;16773193;16786134;16799476;16803888;16804544;16809487;16810323;16845322;16858395;16858683;16879389;16888650;16912199;16918136;16918957;16924241;16932278;16937524;16946010;16953233;16959844;16964243;16964379;16973828;16987295;17001349;17018604;17044028;17060774;17074813;17097223;17119056;17119447;17143285;17148775;17159915;17170014;17179987;17186541;17192257;17195912;17199737;17227125;17270239;17297294;17302867;17309670;17312306;17315191;17318013;17353931;17355635;17360030;17366577;17387744;17393356;17440063;17453004;17453358;17454879;17464312;17483702;1748651;17487277;17487504;17488796;17507627;17516929;17518771;17520704;17525723;17535994;17542667;17548320;17563371;17566669;17603482;17635919;17663506;17671688;17685465;17693984;17696195;17699719;17704260;17714762;17717450;17721188;17727338;17785355;17786355;17854396;17878251;17911174;17914558;17924122;17940185;17942568;17962436;17972530;17979178;18000091;18008004;18024410;18029348;18032947;18042262;18045960;18061181;18070147;18071315;18172070;18199160;18224685;18226854;18227705;18228248;18235983;18246127;18267069;18310286;18310287;18310288;18323787;18329792;18332145;18337114;18343945;18368129;18375819;18381570;18382358;18383861;18397470;18398503;18402768;18408659;18413255;18435933;18451171;18458053;18470905;18509003;18509361;18517279;18519771;18532874;18567582;18592405;18594528;18602919;18615679;18615680;18621636;18628356;18628431;18628967;18632627;18636014;18650848;18668139;18669866;18676742;18676756;18682506;18697864;18710471;18715233;18716556;18718023;18757341;18757433;18759827;18778891;18782444;18787396;18794094;18794803;18798261;18806830;18832519;18834226;18840924;18945298;18946221;18953432;18974108;18980976;18985043;18987552;18992635;19001320;19003996;19012001;19014278;19016743;19018267;19026650;19033861;19034577;19037234;19064572;19087308;19098310;19107232;19126563;19127559;19133693;19142971;19147753;19152441;19159571;19164452;19178815;19190079;19190105;19190129;19194051;19200582;19206169;19207009;19208736;19226609;19237633;19240718;19255327;19274086;19276360;19282104;19342899;19344998;19351817;19355825;19358278;19362540;19369630;19370505;19372556;19383313;19383316;19389934;19393416;19398955;19404844;19404918;19414674;19415957;19416762;19424571;19424639;19430562;19440799;19461239;19464601;19474002;19487299;19492075;19498322;19504446;19534622;19534623;19543740;19547661;19551857;19561230;19571295;19571709;19571821;19574281;19584155;19603018;19603024;19624312;19626635;19628078;19633643;19637313;19638574;19644722;19652585;19659611;19667065;19667985;19669908;19679016;19679059;19681119;19682280;19686742;19690147;19693938;19704056;19710001;19710016;19718661;19724843;19725049;19735675;19738388;19738460;19745699;19752400;19759551;19765726;19794125;19826477;19829302;19850689;19855373;19861538;19861964;19878585;19880519;19881948;19883729;19884549;19884556;19893451;19903786;19908233;19913317;19919630;19919912;19935791;19953087;19956635;19958951;19959686;19960590;20008640;20009493;20012784;20023270;20027224;20043015;20044755;20049644;20051945;20068183;20098682;20118768;20140953;20146801;20156809;20162668;20177422;20182446;20186801;20187782;20200438;20212043;20230995;20233436;20234366;20300843;20301303;20301365;20301557;20301680;20302979;20303012;20305537;20332228;20351680;20379614;20381121;20406109;20407018;20410389;20413299;20444249;20445557;20453000;20454969;20460314;20473281;20478260;20485284;20489114;20495538;20496269;20498063;20501503;20501689;20514492;20519626;20526288;20543023;20563851;20569675;20570909;20571907;20573852;20576522;20591910;20605766;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08;24612623;24617711;24619974;24625419;24638167;24639117;24677749;24713734;24717435;24721513;24746198;24767862;24816145;24832158;24833563;24859340;24958825;24964758;25015869;3043188;7706312;7731720;7935374;8157000;8394352;8621729;8668348;9069267;9154803;9207797;9560161;9847074 673 H7C4S5;H7C560;H7C5K3;P15056 AA252358;AA834931;ABBA01034086;ABBA01034087;ABBA01034088;ABBA01034089;ABBA01034090;ABBA01034091;AC006006;AC006344;AC006347;AC079339;AI203435;AK054801;AK094023;AK098095;AK124257;AK314346;AMYH02016910;AMYH02016911;AW971583;BC038966;BC101757;BC112079;BM263585;CH236950;CH471070;DB454480;DN996440;EU600171;HB432546;HC464558;HM437233;M21001;M95712;NG_007873;NM_004333;X65187;XM_005250045;XM_005250046;XR_242190 AAA35609;AAA96495;AAD15551;AAD43193;AAI01758;AAI12080;AAS00359;ACD11489;ADN43065;CAA46301;CAZ68014;CBK51920;EAL24023;EAW83964;EAW83965;NP_004324;P15056;XP_005250102;XP_005250103 Hs.550061;Hs.600998;Hs.659507 1718051;1851691;1853747;2116083;2119056;2120598;2162361;2173466;2178697 D7S1672;D7S2227;GDB:1317924;GDB:1318226;GDB:1318374;RH122643;SHGC-35884;STS-T28237;WI-17864 B-RAF1;BRAF1;FLJ95109;MGC126806;MGC138284;NS7;RAFB1;p94 94 kDa B-raf protein;B-Raf proto-oncogene serine/threonine-protein kinase (p94);OTTHUMP00000212184;murine sarcoma viral (v-raf) oncogene homolog B1;proto-oncogene B-Raf;serine/threonine-protein kinase B-raf;v-raf murine sarcoma viral oncogene homolog B;v-raf murine sarcoma viral oncogene homolog B1 APPROVED protein-coding ENSG00000157764 HGNC:1097 01264 115150;164757;211980;613706;613707 REVIEWED 736254 BRCA2 breast cancer 2, early onset Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008] 13 13 13 q12.3 13956447 14040613 + 32889617 32973809 + 32315480 32399672 + 1580863;1599503;734658;1599505;2289049;2289050;2289042;2289044;2289045;2289046;2289048;2289043;2296027;6480464;6907045;7240710;8554872;8699517;9068467;8662366;9068469;9068468;9068461 10451700;12065746;14757868;15689453;16273225;16280055;16650962;16964288;18024013;18042939;18165636;18182994;18431743;20690856;22187320;8524414 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675 H0YD86;H0YE37;P51587 ABBA01010135;ABBA01010136;ABBA01010137;AF309413;AF348515;AF489725;AF489726;AF489727;AF489728;AF489729;AF489730;AF489731;AF489732;AF489733;AF489734;AF489735;AF489736;AF489737;AF489738;AF507079;AF507080;AF507081;AF507082;AF507083;AF507084;AF507085;AF507086;AF507087;AF507088;AF507089;AF507090;AL137247;AL445212;AMYH02027823;AY008850;AY008851;AY151039;AY436640;BC026160;BC047568;CH471075;DQ897648;JX480468;JX480469;JX480470;JX480471;JX480473;JX480474;JX480476;JX480477;JX480478;NG_012772;NM_000059;U43746;X95152;X95161;Z73359;Z74739 AAB07223;AAG32681;AAG32682;AAG46030;AAK29432;AAN28944;AAN61409;AAN61410;AAN61411;AAN61412;AAN61413;AAN61414;AAN61415;AAN61416;AAN61417;AAN61418;AAN61419;AAN61420;AAN61421;AAN61422;AAN61426;AAN61427;AAN61428;AAN61429;AAN61430;AAN61431;AAN61432;AAN61433;AAN61434;AAN61435;AAN61436;AAN61437;AAQ97181;ABI74674;ACX32322;AFU88810;AFU88811;AFU88812;AFU88813;AFU88815;AFU88816;AFU88818;AFU88819;AFU88820;CAA64484;CAA97728;CAA98995;EAX08499;EAX08500;EAX08501;NP_000050;P51587 Hs.34012 1695158;1708016;1792188;1792190;1792192;1792194;1792196;1793590;1794268;1926704;2113446;2121311;2131231;2155936;5491828 BRCA2;D13S1788;G48219;PMC13918P2;PMC13918P3;PMC13918P4;PMC13918P5;PMC13918P6;PMC23830P1;PMC310899P14;REN34178;RH68440;SHGC-81356;STS-X95152;STS-X95157 BRCC2;BROVCA2;FACD;FAD;FAD1;FANCB;FANCD;FANCD1;GLM3;PNCA2 BRCA1/BRCA2-containing complex, subunit 2;OTTHUMP00000018803;breast and ovarian cancer susceptibility gene, early onset;breast cancer 2;breast cancer 2 tumor suppressor;breast cancer susceptibility protein BRCA2;breast cancer type 2 susceptibility protein;fanconi anemia group D1 protein;truncated breast and ovarian cancer susceptibility protein 2 2303074 MAMTS46_H APPROVED protein-coding ENSG00000139618 HGNC:1101 02554 114480;155255;176807;194070;600185;605724;612555;613029;613347 REVIEWED 1320478 BRD7 bromodomain containing 7 This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 16 16 16 q12 34867347 34917271 - 50352929 50402845 - 50319018 50368934 - 6480464;8694154;9495920;9479075;9586445;9586443;9586444;9586441;9586442 18772500;21358755;22008115;23215825;23355908;24198243;24404152;24686119 10526152;11025449;12477932;12489984;12600283;12766061;12918109;12941796;14702039;15137061;15383276;15489334;16169070;16265664;16344560;16475162;16786191;16792505;17081983;18329849;18778484;18809673;19111069;19471022;19505873;19909775;20130577;20211142;20215511;20228809;20305087;20360068;20561408;20660729;21139048;21873788;21890473;22015043;22864638;23110154;24124411;24657164;24816145 29117 I3L0Y7;I3L4V5;Q9NPI1 ABBA01000874;ABBA01000875;AC007493;AC007597;AC023826;AF152604;AF213969;AJ271881;AK027308;AK074613;AMYH02032012;AW615116;BC001611;BC050728;BC094706;CD677718;CH471092;DA645362;NG_023418;NM_001173984;NM_013263;XM_005255911;XM_005255912 AAF19526;AAF75126;AAH01611;AAH50728;AAH94706;BAB55031;BAC11089;CAB72445;EAW82756;EAW82757;EAW82758;EAW82759;NP_001167455;NP_037395;Q9NPI1;XP_005255968;XP_005255969 Hs.437894 1680212;1683371;1735290;1857830;2144750;2151134 D3S2934E;RH12903;RH18317;RH68546;SHGC-2534;SHGC-64341 BP75;CELTIX1;NAG4 75 kDa bromodomain protein;OTTHUMP00000164222;OTTHUMP00000164223;bromodomain protein;bromodomain-containing 7;bromodomain-containing protein 7;protein CELTIX-1 APPROVED protein-coding ENSG00000166164 HGNC:14310 REVIEWED 1318974 BRD3 bromodomain containing 3 This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008] 9 9 9 q34 107443656 107481364 - 136895427 136933655 - 134030305 134068533 - 1580863;6480464;9479075 24686119 12371535;12477932;12600283;15164053;15302935;15489334;16008511;17081983;17934517;18406326;19322201;19454010;20195357;21555453;21832049;21900206;22035730;22139419;22779921;22939629;23000965;23602568;24049186;7584044;8619474;8781126;9110174;9373153 8019 A9J571;A9J575;Q15059 AA766480;ABBA01021990;ABBA01021991;AC000391;AC002105;AC002323;AF052138;AK026880;AK123322;AK299519;AL445931;AL591386;AMYH02021844;AMYH02021845;AW409970;AY513270;BC010699;BC030095;BC032124;BI545861;CH471090;D26362;DW413353;NM_007371;XM_005272214;XM_006717291;Z81330 AAH32124;AAS82952;BAA05393;BAG61471;EAW88113;EAW88114;EAW88115;NP_031397;Q15059;XP_005272271;XP_006717354 Hs.522472;Hs.654869 1697700;1738321;1856076;1857212;2131605;2132497;2132499;2151781;2157493;2166686 A006H47;D11S4285;D9S1018E;D9S1348;D9S2059;G20827;RH102366;RH25279;STS-D26362;STS-W74619 FLJ23227;FLJ41328;KIAA0043;ORFX;RING3L OTTHUMP00000022724;OTTHUMP00000022725;RING3-like protein;bromodomain-containing 3;bromodomain-containing protein 3 APPROVED protein-coding ENSG00000169925 HGNC:1104 03327 601541 REVIEWED 1343686 BRD7P1 bromodomain containing 7 pseudogene 1 14 14 14 q11.2 4081020 4083243 + 24218315 24220538 + 23749106 23751329 + 100288948 ABBA01061325;AL160237;AMYH02028873;NG_022855 BRD7P APPROVED pseudo HGNC:19923 INFERRED 1626549 BRD7P2 bromodomain containing 7 pseudogene 2 3 3 3 q25.33 158240085 158242306 + 159818478 159820699 + 160100691 160102912 + 647076 ABBA01058799;AC026118;AMYH02008013;NG_009641 1680212;1683371;1735290;1857830;2144750 D3S2934E;RH12903;RH18317;SHGC-2534;SHGC-64341 pseudo HGNC:33541 INFERRED 3207434 BRD7P4 bromodomain containing 7 pseudogene 4 6 6 6 q21 112497473 112499718 + 111750912 111753157 + 111429709 111431954 + 100287229 ABBA01026090;AL512325;AMYH02014305;NG_016163 1857830 SHGC-64341 pseudo HGNC:37630 INFERRED 1316385 BRD4 bromodomain containing 4 The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15243961 15286908 - 15348301 15443354 - 15237490 15280451 - 1580863;6480464;9586348;9586350;9586353;9479075;9586346;9586351;9586352 21814200;22120039;23759512;23939492;23950209;24686119;25120803 10938129;11733348;12192049;12477932;12543779;12840145;15057824;15109495;15231748;15302935;15456879;15795266;15994877;16055720;16109376;16109377;16169070;16611886;16921027;16940503;16980611;17023018;17081983;17189189;17189190;17474147;17626100;17643375;17686863;17690245;17934517;18029348;18039861;18305892;18500820;18971272;18996376;19038968;19103749;19129460;19211738;19322201;19336002;19471022;19553317;19596781;19766566;19846528;20036832;20201073;20676058;21030982;21139048;21149631;21252943;21360054;21555454;21652721;21693764;21890473;21900206;21964340;22035730;22084242;22334664;22623531;22645123;22939629;23027873;23041316;23086925;23087374;23115324;23128391;23144621;23255218;23317504;23324342;23365439;23370386;23455924;23518577;23658523;23722886;23728299;23818621;24049186;24090311;24100334;24146614;24189064;24260471;24278023;24360279;24367103;24403256;24448221;24497639;24525235;24584072;24657799;24733848;25049379 23476 M0QYW0;M0QZD9;M0R0H4;O60885 ABBA01051106;ABBA01051107;ABBA01051108;AC003111;AC004798;AF386649;AK307664;AMYH02035647;AMYH02035648;AMYH02035649;AMYH02035650;BC000156;BC008354;BC030158;BC035266;BC038988;BC047888;BC067129;BC091649;CH471106;KF974357;NM_014299;NM_058243;Y12059 AAC27978;AAH00156;AAH08354;AAH30158;AAH35266;AAH38988;AAH47888;AAH67129;AAH91649;AAL26987;AHK61044;CAA72780;EAW84469;EAW84470;EAW84471;EAW84472;EAW84473;NP_055114;NP_490597;O60885 Hs.187763 1660009;1671587;1671589;1686694;2123482;2123484;5491268 A001Y01;A006J46;G19768;G20884;MARC_6953-6954:992007586:1;RH69303;RH91446 CAP;HUNK1;MCAP HUNKI;bromodomain-containing 4;bromodomain-containing protein 4;chromosome-associated protein APPROVED protein-coding ENSG00000141867 HGNC:13575 10574 608749 REVIEWED 69132 BRCA1 breast cancer 1, early onset This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009] 17 17 17 q21 37853171 37934354 - 41196312 41277500 - 43044295 43125483 - 1580863;1599502;734655;734657;734656;1599497;1578504;2293150;2293156;2293014;2293154;2293190;2293149;2293151;2293153;2298941;2298942;2293155;2293152;2289042;6480464;6484113;6907045;7240710;8554872;8662965;8693672;8661237 10398279;10442317;11889595;12203372;12773202;16498454;17505536;18094410;18182994;18204050;18256760;18269736;18400253;18443292;18483361;20679336;24239235;24326623;7907678;9167459;9700175 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AAA73985;AAB08105;AAB40910;AAB61673;AAC00049;AAC37594;AAC50330;AAF97939;AAH30969;AAH62429;AAH72418;AAH85615;AAI06746;AAI06747;AAI15038;AAM18218;AAM18219;AAM18220;AAM18221;AAM18222;AAM18223;AAM18225;AAM18226;AAN10167;AAN61423;AAN61425;AAP12647;AAP70031;AAQ92977;AAU21563;AAU21564;AAU93634;AAZ16492;AAZ79406;AAZ79407;AAZ79409;AAZ79410;ABA29208;ABA29211;ABA29214;ABA29217;ABA29220;ABA29223;ABA29226;ABA29229;ABB87053;ABB87054;ABB87055;ABB87056;ABB87057;ABB87058;ABB87059;ABB87060;ABB87061;ABB87062;ABB87063;ABB87064;ABB87065;ABB87066;ABB87067;ABB87069;ABB87070;ABB87071;ABB87072;ABB87073;ABB87074;ABB87075;ABB87076;ABB87077;ABB87078;ABB87079;ABC59810;ABC59811;ABC88652;ABF14462;AEQ98814;BAH14571;BAK64160;CAA70003;EAW60922;EAW60923;EAW60924;EAW60925;EAW60926;EAW60927;EAW60928;EAW60929;EAW60930;EAW60931;EAW60932;EAW60933;EAW60934;EAW60935;EAW60936;EAW60937;EAW60938;EAW60939;EAW60940;EAW60941;EAW60942;NP_009225;NP_009228;NP_009229;NP_009230;NP_009231;P38398;XP_006722092;XP_006722093;XP_006722094;XP_006722095;XP_006722096;XP_006722097;XP_006722098;XP_006722099;XP_006722100;XP_006722101;XP_006722102;XP_006722103;XP_006722104 Hs.194143 1339869;1646829;1686754;1722255;1730946;1733800;1744103;1744105;1744107;1744109;1744111;1744113;1744115;1744117;1744119;1744121;1744123;1744125;1744127;1744129;1744131;1744133;1744135;1744137;1744139;1744415;1744417;1744419;1744421;1744423;1744425;1744427;1744429;1744431;1744433;1744435;1744437;1744439;1744441;1744443;1744445;1744447;1744449;1744451;1745637;1745639;1745697;1759043;1791446;1792180;1792186;1793764;1793766;1794264;1794266;1794270;1794272;1794274;1794276;1794278;2106449;2164296;2190495;5022588;5109450;5127899 BRCA1;BRCA1_4046;D17S1198;D17S1322;D17S1323;D17S855;D17S932;D5S1597E;G10044;G60034;GDB:388557;GDB:388674;GDB:388688;GDB:389033;GDB:389047;GDB:389054;GDB:391358;GDB:391365;GDB:391372;GDB:391818;GDB:391825;GDB:391832;GDB:391839;GDB:391846;GDB:391853;GDB:391860;GDB:391867;GDB:391874;GDB:391881;GDB:454227;GDB:454278;GDB:454349;GDB:454353;GDB:454372;GDB:454381;GDB:454417;GDB:454421;GDB:454425;GDB:454429;GDB:454433;GDB:454437;GDB:454441;GDB:454446;GDB:454450;GDB:454454;GDB:454458;GDB:454462;GDB:454466;GDB:626829;GDB:626905;GDB:631944;PMC110706P1;PMC139147P1;PMC13918P1;PMC280658P1;PMC280658P2;PMC310899P11;PMC310899P12;PMC310899P2;PMC310899P3;PMC310899P5;PMC310899P6;PMC310899P8;RH79896;SHGC-151111;SHGC-152118 BRCC1;BROVCA1;IRIS;PNCA4;PPP1R53;PSCP;RNF53 BRCA1/BRCA2-containing complex, subunit 1;BRCAI;OTTHUMP00000212143;OTTHUMP00000212147;OTTHUMP00000212148;OTTHUMP00000212149;OTTHUMP00000212150;OTTHUMP00000212151;OTTHUMP00000212155;RING finger protein 53;breast and ovarian cancer susceptibility protein 1;breast and ovarian cancer sususceptibility protein;breast and ovarian cancer sususceptibility protein 1;breast cancer 1;breast cancer type 1 susceptibility protein;protein phosphatase 1, regulatory subunit 53 2292917;2292991;2292992;2303079 MAMTS45_H;PRSTS123_H;PRSTS128_H;PRSTS133_H APPROVED protein-coding ENSG00000012048 HGNC:1100 00218 113705;604370;614320 REVIEWED 1626540 BRD7P3 bromodomain containing 7 pseudogene 3 INTERACTS WITH copper(2+) sulfate; formaldehyde; methyl methanesulfonate 6 6 6 q22.31 119565861 119568334 + 118822536 118825009 + 118501373 118503846 + 6480464 10526152;12477932 23629 ABBA01026028;AF167351;AMYH02014369;BC033937;NG_021248;NR_002730;Z99496 AAD46658 Hs.648050 1735290 D3S2934E BP75;MGC42164 pseudo HGNC:24171 VALIDATED 1316511 BRD9 bromodomain containing 9 ENCODES a protein that exhibits lysine-acetylated histone binding; INVOLVED IN chromatin modification (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); PARTICIPATES IN SWI/SNF family mediated chromatin remodeling pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 5 5 5 p15.33 905000 934089 - 863850 892939 - 863735 892824 - 737633;6480464;9495920;8554872 12477932;21358755 12601173;12975309;14702039;15489334;18559093;19471022;20379614;21693764 65980 B4DXI2;C9JBY0;F2Z2E8;H0YAW8;H0YBF1;H0YBR9;H0YBX9;Q9H8M2 ABBA01034224;ABBA01034225;ABBA01034226;AC122719;AK023503;AK024392;AK026830;AK125518;AK297573;AK299157;AK301987;AL833925;AMYH02010757;AW151055;AY211916;AY358630;BC007217;BC041590;BX648703;CH471102;DQ248311;NM_001009877;NM_023924;NR_027633;XM_006714492;XM_006714493;XM_006714494;XR_427662 AAH41590;AAO65169;AAQ88993;ABB55266;ABZ92051;BAB14591;BAB14907;BAB15565;BAG59964;BAG61205;BAG63394;CAD38781;EAX08187;EAX08188;EAX08189;EAX08190;EAX08191;EAX08192;EAX08193;NP_001009877;NP_076413;Q9H8M2;XP_006714555;XP_006714556;XP_006714557 Hs.449278 1675999 RH80453 DKFZp434D0711;DKFZp686L0539;FLJ43530;LAVS3040;PRO9856 OTTHUMP00000214520;OTTHUMP00000214523;bromodomain-containing protein 9;rhabdomyosarcoma antigen MU-RMS-40.8;sarcoma antigen NY-SAR-29 protein-coding ENSG00000028310 HGNC:25818 12532 VALIDATED 1315431 BRDT bromodomain, testis-specific BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 1 1 1 p22.1 90661426 90726420 + 92414928 92479985 + 91949371 92014428 + 6480464;9586360;9479075;9586359;8554872 22016351;22035730;24686119 10365964;10704737;11076863;12477932;12861021;15489334;15647849;16344560;17690245;18029348;18654987;18976975;20378615;20379614;20538714;22505724;9367677 676 C9J0Z0;C9J1F7;C9JD82;C9JDL5;C9JJU3;C9JLZ2;C9JMP1;C9JQ27;F8VZ63;F8W0H2;Q58F21 ABBA01045554;ABBA01045555;ABBA01045556;AC114486;AF019085;AK302758;AK303008;AK316442;AMYH02001472;AMYH02001473;AMYH02001474;AMYH02001475;AY338951;BC005281;BC017582;BC028126;BC038844;BC047900;BC062700;BG717291;BX648135;CH471097;DB072781;DC401352;DC402057;NM_001242805;NM_001242806;NM_001242807;NM_001242808;NM_001242810;NM_001726;NM_207189;XM_005271151;XM_006710853;XM_006710854;XM_006710855;XM_006710856;XM_006710857;XM_006710858 AAB87862;AAH05281;AAH17582;AAH47900;AAH62700;AAI11928;AAI18499;AAQ16198;BAH13797;BAH13876;BAH14813;EAW73106;EAW73107;EAW73108;EAW73109;EAW73110;EAW73111;NP_001229734;NP_001229735;NP_001229736;NP_001229737;NP_001229739;NP_001717;NP_997072;Q58F21;XP_005271208;XP_006710916;XP_006710917;XP_006710918;XP_006710919;XP_006710920;XP_006710921 Hs.482520 1693244 AL033575 BRD6;CT9 OTTHUMP00000011809;OTTHUMP00000011810;OTTHUMP00000197577;RING3-like protein;bromodomain testis-specific protein;cancer/testis antigen 9 APPROVED protein-coding ENSG00000137948 HGNC:1105 03684 602144 REVIEWED 1315939 BRD8 bromodomain containing 8 The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014] 5 5 5 q31 133596763 133635647 - 137475455 137514358 - 138139766 138178669 - 6480464;9587763;9495926 19787264;21502417 10517671;11161817;11230166;12477932;12963728;14966270;15070733;15196461;15302935;15489334;15647280;15949438;16387653;16571680;16964243;17081983;17573780;18029348;19471022;19553677;20051959;20308539;20332121;20360068;20946988;21139048;21693764;23064015;23667531;24654937;24816145;25027693;8125298;8611617;9368056 10902 B4DN43;B5MCW3;C9JV05;D6RID0;F8WBH2;F8WCS7;F8WDX5;H0Y8F9;H0YA84;H0YAH7;H7C026;H7C127;H7C128;H7C179;H7C2P4;Q9H0E9 AB209079;ABBA01068692;AC109442;AC113382;AF016270;AK225928;AK289951;AK293621;AK297608;AK297756;AK310380;AK312333;AL136823;AL704983;AMYH02012283;AMYH02012284;BC008039;BC008076;BU187982;CH471062;NM_001164326;NM_001300961;NM_001300962;NM_001300966;NM_006696;NM_139199;X87613;X94234;XM_005271855;XM_005271856;XM_005271857;XM_005271859;XM_005271860;XM_005271861;XM_005271864;XM_005271865;XM_006714524;XM_006714525;XR_427701 AAB87858;AAH08039;AAH08076;BAD92316;BAF82640;BAG35254;BAG57080;BAG59991;BAG60105;CAA60949;CAA63925;CAB66757;EAW62159;EAW62160;EAW62161;EAW62162;NP_001157798;NP_001287890;NP_001287891;NP_001287895;NP_006687;NP_631938;Q9H0E9;XP_005271912;XP_005271913;XP_005271914;XP_005271916;XP_005271917;XP_005271918;XP_005271921;XP_005271922;XP_006714587;XP_006714588 Hs.519337 1655110;1655112;1681107;1754007;2107897;2115125;5022651 A006J23;BRD8_7982;D11S2921;D5S2603;G20870;RH99254;SHGC-132052 SMAP;SMAP2;p120 OTTHUMP00000159491;OTTHUMP00000197553;OTTHUMP00000197554;OTTHUMP00000197555;OTTHUMP00000197556;OTTHUMP00000197557;bromodomain-containing protein 8;skeletal muscle abundant protein 2;thyroid hormone receptor coactivating protein of 120 kDa;trCP120 APPROVED protein-coding ENSG00000112983 HGNC:19874 04166 602848 REVIEWED 3322052 BRD7P5 bromodomain containing 7 pseudogene 5 13 13 13 q32.1 76257655 76259476 - 95409564 95411671 - 94757310 94759417 - 100129259 ABBA01027204;AL137061;AMYH02028507;NG_009642 pseudo HGNC:37631 INFERRED 6769959 BRE-AS1 BRE antisense RNA 1 2 2 2 p23 27957341 27958999 - 28112323 28113981 - 27889456 27891114 - 12477932;16344560;17113583 100302650 ABBA01045223;AC021171;AMYH02003485;AW080339;BC014088;DA582634;DR978411;DR980668;NR_028308 Hs.729719 APPROVED ncrna HGNC:44171 VALIDATED 2801633 BRD7P6 bromodomain containing 7 pseudogene 6 2 2 2 p13.3 70419904 70433726 + 70569227 70583050 + 70342095 70355918 + 100128042 ABBA01075536;AC022201;AMYH02004039;NG_016161 pseudo HGNC:37632 INFERRED 1343026 BRE brain and reproductive organ-expressed (TNFRSF1A modulator) ENCODES a protein that exhibits polyubiquitin binding; tumor necrosis factor receptor binding; INVOLVED IN cellular response to DNA damage stimulus; double-strand break repair; positive regulation of DNA repair; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN BRCA1-A complex; BRISC complex; cytoplasm; INTERACTS WITH 1-fluoro-2,4-dinitrobenzene; 17beta-estradiol; 4-(ethoxymethylene)-2-phenyloxazol-5-one 2 2 2 p23.2 27958500 28406802 + 28113482 28561768 + 27890615 28338901 + 1580863;6480464;8554872 11259452;11676476;12477932;12938929;14636569;14702039;15465831;15489334;15582573;16189514;16196087;16713569;17353931;17525341;17704801;18029348;18756325;19015238;19214193;19261746;19261748;19261749;19380743;19615732;19757177;20035718;20379614;20656689;20861917;20972266;21139048;21282113;21577200;21890473;21906983;21937695;21963094;21987572;22505724;22555662;22689573;22797925;22863883;22990118;23128233;23211528;23966867;24816145;7826398;9737713 9577 C9J2G0;F8W733;Q9NXR7 ABBA01045223;ABBA01045224;ABBA01045225;ABBA01045226;ABBA01045227;ABBA01045228;AC021171;AC093690;AC096552;AC104695;AF015767;AF420602;AF420603;AF420604;AF420605;AK000097;AK098345;AK123076;AK291086;AL566299;AMYH02003485;AMYH02003486;AMYH02003487;AMYH02003488;AMYH02003489;AMYH02003490;AMYH02003491;AMYH02003492;AMYH02003493;AMYH02003494;AY438031;BC001251;BG422104;BG422293;BI559404;BU172408;CH471053;CR994399;L38616;NM_001261840;NM_004899;NM_199191;NM_199192;NM_199193;NM_199194 AAA64231;AAB69387;AAH01251;AAL17814;AAL17816;AAL17817;AAL17818;AAR30499;AAX88935;AAY24156;ABM82190;ABM85377;BAA90943;BAC85532;BAF83775;EAX00542;EAX00543;EAX00544;EAX00545;EAX00546;EAX00547;EAX00548;NP_001248769;NP_004890;NP_954661;NP_954662;NP_954663;NP_954664;Q9NXR7 Hs.258314 1336633;1656230;1660900;1661498;1724079;1734864;1749975;2137288;2156198;2186804;2218316 BRE_4464;D2S1615E;D2S1980;D2S223;D2S2556;D2S2920;RH118779;RH48736;RH66226;RH70472;SHGC-111684 BRCC4;BRCC45 BRCA1-A complex subunit BRE;BRCA1/BRCA2-containing complex subunit 45;BRCA1/BRCA2-containing complex, subunit 4;OTTHUMP00000123504;OTTHUMP00000123505;OTTHUMP00000123506;OTTHUMP00000123507;OTTHUMP00000123508;brain and reproductive organ-expressed protein protein-coding ENSG00000158019 HGNC:1106 08498 610497 VALIDATED 1318806 BRF2 BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008] 8 8 8 p11.23 36652978 36659011 - 37701398 37707431 - 37843880 37849913 - 1580863;6480464;8554872 10330166;11040218;11121026;11483580;11564744;12477932;12621023;14702039;16227591;16344560;17353931;18700021;20668658;21906983;23550276;24144296 55290 E5RGF6;E5RGX1;Q9HAW0 AA496239;ABBA01023567;AC130304;AC138356;AF130058;AF206673;AF298153;AK001914;AK294337;AK315420;AMYH02017816;BC010648;CH471080;DA688249;NM_018310 AAG30222;AAG35486;AAG35669;AAH10648;ABZ92043;BAA91975;BAG37809;BAG57607;EAW63351;EAW63352;EAW63353;NP_060780;Q9HAW0 Hs.709301 1667471;2127573;2217078 BRF2_3601;SGC33756;SHGC-57648 BRF-2;BRFU;FLJ11052;TFIIIB50;hBRFU;hTFIIIB50 B-related factor 2;BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like;OTTHUMP00000225611;OTTHUMP00000225612;RNA polymerase III transcription initiation factor BRFU;transcription factor IIB- related factor, TFIIIB50;transcription factor IIIB 50 kDa subunit APPROVED protein-coding HGNC:17298 06115 607013 REVIEWED 1348808 BRI3BP BRI3 binding protein FOUND IN mitochondrion; INTERACTS WITH 17beta-estradiol; 2-methylcholine; copper atom 12 12 12 q24.31 125079837 125113892 + 125478194 125510349 + 124993648 125025803 + 1580863;6480464 11860200;12477932;14702039;15489334;17765869;17943721;19805454;21139048;21182205;21890473;24457600 140707 Q8IX35;Q8WY22 ABBA01060353;AC093719;AC122688;AF283671;AF284094;AF441865;AK055703;AMYH02027480;AMYH02027481;AMYH02027482;AMYH02027483;BC034525;CA488612;CH471054;NM_080626 AAH34525;AAL33003;AAL54382;AAN76689;EAW98470;EAW98471;NP_542193;Q8WY22 Hs.596464 1661598;1667020;1789104;2218318;5015861;5037552;7185938 BRI3BP_4465;D10S16;D8S2279;G65686;RH66758;STS-AA017225 BNAS1;HCCR-1;HCCR-2;HCCRBP-1;KG19 BRI3-binding protein;I3-binding protein;OTTHUMP00000239024;cervical cancer 1 proto-oncogene-binding protein KG19;cervical cancer oncogene binding protein protein-coding HGNC:14251 09829 615627 VALIDATED 2292094 BREA2 breast cancer estrogen-induced apoptosis 2 ASSOCIATED WITH Melanoma (inferred) 8 8 8 q24.3 141090217 141091515 + 144779285 144780583 + 143697115 143698413 + 8554872 12477932 286076 Q8NDL7 ABBA01005243;AC105219;AL833948;AMYH02018947;AY940073;BC132838;BC132840;CH471162;NR_015445 CAD38802;EAW82209 Hs.178095 ncrna 18592 VALIDATED 1626269 BRI3P2 brain protein I3 pseudogene 2 12 12 12 p12.1 30266976 30267353 - 25120061 25120438 - 24967127 24967504 - 441630 ABBA01068014;AC026310;AMYH02026215;NG_009662 pseudo HGNC:32543 INFERRED 1626266 BRI3P1 brain protein I3 pseudogene 1 1 1 1 p21.2 98935604 98936350 + 100678760 100679506 + 100213204 100213950 + 730010 ABBA01045444;AL445928;AMYH02001554;NG_009718;NG_011852 1703246 SGC31939 pseudo HGNC:33533 INFERRED 1322467 BRF1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011] 14 14 14 q 85728231 85815347 - 105675623 105781914 - 105209286 105315577 - 1580863;6480464;9586716;9479074;8554872 18456653;23642229 10330166;10373544;10523658;10921893;11809839;11997511;12016223;12066800;12198173;12477932;12711686;14702039;15489334;15538381;16713569;16982688;17043677;17081983;17369404;17499043;17877750;17968325;18326031;18700021;20154270;20211142;21044367;21106530;21693764;21832049;21832157;21890473;22139419;23314748;25015289;7624363;8943358;8943363;9169441;9171375 2972 A3KN61;B3KWA2;F8VQ19;F8VS45;F8VWT8;F8VWY1;F8VXJ4;F8W123;H0YIV6;Q3SYD7;Q92994;V9HVY2 ABBA01008866;ABBA01008867;ABBA01008868;ABBA01008869;ABBA01008870;ABBA01008871;ABBA01008872;AJ297406;AJ297407;AJ297408;AK096471;AK124665;AK125024;AK294899;AK295579;AL512355;AL540823;AMYH02029964;AMYH02029965;BC016743;BC071637;BC086856;BC103859;BC103860;BC103861;BC133655;BX440529;CH471061;EU668327;N91109;NG_029489;NM_001242786;NM_001242787;NM_001242788;NM_001242789;NM_001242790;NM_001519;NM_145685;U28838;U75276;XM_005267561;XM_005267563;XM_006720122;XM_006720123 AAB38876;AAC50170;AAH16743;AAH71637;AAH86856;AAI03860;AAI03861;AAI03862;AAI33656;ACF94480;BAC86024;BAG53298;BAG54064;BAG58477;BAH11919;CAC04512;CAC04513;CAC04514;EAW81906;EAW81907;EAW81908;EAW81909;EAW81910;EAW81911;EAW81912;NP_001229715;NP_001229716;NP_001229717;NP_001229718;NP_001229719;NP_001510;NP_663718;Q92994;XP_005267618;XP_005267620;XP_006720185;XP_006720186 Hs.424484 1712274;2117436;2120107;2159976;2165486;2173980;2217076 BRF1_3377;G35352;G35414;G35829;G54046;RH79138;SGC31908 BRF;BRF-1;FLJ42674;FLJ43034;GTF3B;HEL-S-76p;MGC105048;TAF3B2;TAF3C;TAFIII90;TF3B90;TFIIIB90;hBRF;hTFIIIB90 B - related factor 1;B-related factor 1;BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB;OTTHUMP00000028454;OTTHUMP00000163910;OTTHUMP00000243596;OTTHUMP00000243598;OTTHUMP00000243600;OTTHUMP00000243601;OTTHUMP00000243607;TATA box binding protein (TBP)-associated factor 3C;TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2;TATA box binding protein (TBP)-associated factor, RNA polymerase III, subunit 2;TATA box-binding protein-associated factor, RNA polymerase III, subunit 2;TBP - associated factor, RNA polymerase III, 90kD;epididymis secretory sperm binding protein Li 76p;general transcription factor IIIB, 90kD subunit;transcription factor IIIB 90 kDa subunit APPROVED protein-coding ENSG00000185024 HGNC:11551 05361 604902 REVIEWED 5686950 BRI3P3 brain protein I3 pseudogene 3 17 17 p11.2 17884503 17884884 - 17981189 17981570 - 100101554 ABBA01009742;AC087163;AMYH02033100;NG_032028 pseudo HGNC:32544 INFERRED 1602822 BRICD5 BRICHOS domain containing 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine 16 16 16 p13.3 2473671 2475428 - 2259254 2263541 - 2209253 2213540 - 8554872 12477932;17207965 283870 H3BV65;Q6PL45 ABBA01030269;AC009065;AMYH02031247;AY597811;BC039154;CH471112;DN992777;NM_182563;XM_005255263 AAH39154;AAT09004;ADQ31629;EAW85535;EAW85536;NP_872369;Q6PL45;XP_005255320 Hs.647399 1664128;1722265;1736574;2146291 D16S2568E;G60043;STS-W72364;WIAF-1628 C16orf79;MGC21830 BRICHOS domain-containing protein 5;BRICHOS domain-containing protein C16orf79;OTTHUMP00000159050;chromosome 16 open reading frame 79 APPROVED protein-coding HGNC:28309 14482 VALIDATED 1319388 BRI3 brain protein I3 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; copper(2+) sulfate 7 7 7 q21.3 92604881 92616177 + 97910972 97952972 + 98281659 98323430 + 1580863;6480464 11860200;12477932;14592447;15489334;15606899;16341674;16508092;17390049;18452648;19366692;20538055;23251661;8076819;9847074 25798 F5GXW6;I3L1V6;O95415 AB055977;ABBA01045731;AC004841;AC091654;AC093169;AC093799;AF041430;AF106966;AMYH02016328;BC018737;BC062370;BF108440;BF432881;BQ018487;BQ083249;CB054862;CB528682;CH236956;CH471091;HG500435;NM_001159491;NM_015379;XM_005250251;XM_005250252;XR_428172;XR_428173 AAD05167;AAF18565;AAH18737;AAH62370;ADR82701;BAB32785;EAW76713;EAW76714;EAW76715;NP_001152963;NP_056194;O95415;XP_005250308;XP_005250309 Hs.567438 1689771;1703246 RH79669;SGC31939 I3;RP11-307C18.1;pRGR2 OTTHUMP00000205442 protein-coding ENSG00000164713 HGNC:1109 16562 615628 VALIDATED 1606655 BRINP3 bone morphogenetic protein/retinoic acid inducible neural-specific 3 INVOLVED IN cellular response to retinoic acid (ortholog); negative regulation of mitotic cell cycle (ortholog); positive regulation of neuron differentiation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN dendrite (inferred); endoplasmic reticulum (inferred); extracellular region (inferred); INTERACTS WITH arsenite(3-); cyclosporin A; pirinixic acid 1 1 1 q31.1 163175438 163555389 - 190066792 190447534 - 190097662 190478404 - 6480464;8554872 12477932;15193423;15489334;16018821;16710414;17138656;17903301;18430236;19019082;19787213;20379614;20383335;20972266;22013132;22355820;22377736 339479 B1AMP1;Q76B58 AB111893;ABBA01027668;ABBA01027669;ABBA01027670;ABBA01027671;ABBA01027672;AK123024;AK123637;AK294365;AL354771;AL365402;AL391645;AMYH02002348;AMYH02002349;AMYH02002350;AMYH02002351;AMYH02002352;AMYH02002353;AMYH02002354;BC105052;BC105054;CH471067;NM_199051;U67037;XM_005245117;XM_005245118;XM_005245119;XM_005245120;XM_005245123 AAD09521;AAI05053;AAI05055;BAD04066;BAG53853;BAG53928;BAH11746;EAW91222;NP_950252;Q76B58;XP_005245174;XP_005245175;XP_005245176;XP_005245177;XP_005245180 Hs.65765 1337073;1662833;1691954;1693074;1693158;1719783;1723105;2134089;2138346;2180558;2184844 AL009522;AL009831;AL009942;AL033615;AL034265;AL034306;D1S1189;D1S1877E;D1S2151;RH123583;RH123739 DBCCR1L;DBCCR1L1;FAM5C;RP11-445K1.1 BMP/retinoic acid-inducible neural-specific protein 3;DBCCR1-like protein 1;OTTHUMP00000033554;family with sequence similarity 5, member C APPROVED protein-coding ENSG00000162670 HGNC:22393 16782 PROVISIONAL 1316979 BRIP1 BRCA1 interacting protein C-terminal helicase 1 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] 17 17 17 q22.2 58857566 59042100 - 59756547 59940920 - 61679186 61863559 - 1580863;1600525;6480464;7240710;8554872;8699517 11301010 11595410;11877378;11920628;12477932;12565990;12872252;14504288;14576433;14578343;14702039;14983014;15113441;15125843;15133502;15242590;15302935;15489334;15878853;16116421;16116423;16116424;16153896;16430786;16485136;17033622;17148452;17342202;17504528;17525340;17525341;17525342;17557904;17581638;17596542;17664283;18029348;18270339;18285836;18345034;18414782;18426915;18483852;18557994;18628483;18676680;18717574;18950845;18978354;19011769;19012493;19064565;19064572;19116388;19124506;19127258;19150983;19170196;19419957;19452558;19484476;19504183;19536649;19584272;19625176;19690177;19692168;19714462;19748364;19763819;19913121;19935797;20150366;20159462;20159562;20173781;20301425;20301575;20301753;20332657;20451671;20567916;20587610;20628086;20639400;20676667;20681793;20978114;21127055;21139048;21165771;21240188;21356067;21409391;21890473;21906983;21963094;21964575;22032289;22137763;22412018;22526901;22582397;22678362;22692731;22792074;22797925;22968820;23108394;23157317;23225146;23473757;23530059;23585894;23644138;24023788;24040146;24301948;24573678;24895130;24966277 83990 J3KS24;J3QKX0;J3QQP5;J3QSE8;Q9BX63 ABBA01035376;ABBA01035377;ABBA01035378;ABBA01035379;ABBA01035380;AC002994;AC005969;AC060798;AF360549;AK074713;AMYH02033744;AMYH02033745;AMYH02033746;AMYH02033747;AMYH02033748;BC101472;BC101474;CH471179;NG_007409;NM_032043 AAI01473;AAI01475;AAK38111;ADR83292;BAC11156;EAW51430;EAW51431;EAW51432;EAW51433;NP_114432;Q9BX63 Hs.128903 1690113;1710154;1783630;2218320;5014051;5015619;5015861;5015961;5016596;5021872;5022651;5037552;7185938 BRIP1_4466;D10S16;D11S2921;D11S3114;D15S1477;D8S2278;D8S2279;GDB:631802;RH92304;SHGC-172093;SHGC-82334;sY3084 BACH1;FANCJ;FLJ90232;MGC126521;MGC126523;OF ATP-dependent RNA helicase BRIP1;BRCA1-associated C-terminal helicase 1;BRCA1-binding helicase-like protein BACH1;BRCA1-interacting protein 1;BRCA1-interacting protein C-terminal helicase 1;BRCA1/BRCA2-associated helicase 1;Fanconi anemia group J protein APPROVED protein-coding HGNC:20473 05797 114480;605882;609054 REVIEWED 6480930 BRK1P2 BRICK1, SCAR/WAVE actin-nucleating complex subunit pseudogene 2 13 13 91675997 91676205 - 91023743 91023951 - 100874492 ABBA01027239;AL512659;AMYH02028470;NG_032391 pseudo HGNC:42021 INFERRED 1605645 BRINP2 bone morphogenetic protein/retinoic acid inducible neural-specific 2 INVOLVED IN cell cycle arrest (inferred); cellular response to retinoic acid (inferred); negative regulation of mitotic cell cycle (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 1 1 1 q24 150250704 150361628 + 177140058 177251558 + 177170922 177282422 + 6480464;8554872 11214970;12477932;14702039;15193423;15489334;16710414;18187620;20972266;8619474;9110174 57795 Q9C0B6 AB051534;AB161694;ABBA01027857;AF131833;AK098386;AK123336;AK296524;AL021398;AL022143;AL035289;AMYH02002201;AMYH02002202;BC028036;CH471067;KF455103;NM_021165;XM_005245379 AAD20055;AAH28036;BAB21838;BAC85583;BAD34946;BAG59155;CAA22893;EAW91009;NP_066988;Q9C0B6;XP_005245436 Hs.495918 1692982;1735088;2111998;2155555;2171063 AL034208;D1S1826E;D1S3663;SHGC-75941;WI-15575 DBCCR1L2;FAM5B;FLJ41342;KIAA1747;RP5-1026E2.1 BMP/retinoic acid-inducible neural-specific protein 2;DBCCR1-like protein 2;DBCCR1-like2;OTTHUMP00000032889;bone morphogenic protein/retinoic acid inducible neural-specific 2;family with sequence similarity 5, member B APPROVED protein-coding ENSG00000198797 HGNC:13746 13891 PROVISIONAL 1352437 BRK1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ENCODES a protein that exhibits protein complex binding; Rac GTPase binding; INVOLVED IN positive regulation of Arp2/3 complex-mediated actin nucleation; positive regulation of lamellipodium assembly; protein homotrimerization; PARTICIPATES IN platelet-derived growth factor signaling pathway; FOUND IN extracellular vesicular exosome; SCAR complex; lamellipodium (ortholog); INTERACTS WITH 17beta-estradiol; atrazine; cyclosporin A 3 3 3 p25.3 10093000 10104540 + 10157333 10168874 + 10115649 10127190 + 6480464;6484113 12181570;12477932;14695531;15048733;15489334;17311301;18560548;19576655;19764026;20861187;21890473;21900206;21906983;22505724;22863883;23000965;23939472;24250222;24680773;8605018;9463375 55845 Q8WUW1 ABBA01220540;AC034193;AF161418;AF220047;AK290580;AK312155;AMYH02006247;AMYH02006248;AY148219;AY148220;BC001067;BC007929;BC019303;BC061515;CH471055;NM_018462 AAF28978;AAF67640;AAH01067;AAH07929;AAH19303;AAN60161;AAN60162;ABM83882;ABM87202;ABW03861;BAF83269;BAG35089;EAW64060;EAW64061;NP_060932;Q8WUW1 Hs.649307 1672014;1685103;1772639 RH41855;RH78271;WI-14152 C3orf10;HSPC300;MDS027;hHBrk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit, homolog;Brk1-like;OTTHUMP00000230721;haematopoietic stem/progenitor cell protein 300;probable protein BRICK1;protein BRICK1 APPROVED protein-coding ENSG00000254999 HGNC:23057 12818 611183 VALIDATED 1352710 BRINP1 bone morphogenetic protein/retinoic acid inducible neural-specific 1 This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008] 9 9 9 q32-q33 92576710 92779541 - 121928907 122131739 - 119166630 119369461 - 1580863;6480464;8554872 10444335;10469456;11420708;12442002;12477932;14676191;14712213;15164053;15193422;15489334;15643521;15746151;16369496;17660530;18029348;18235501;18235502;18264085;19218236;19506219;19834503;20070850;20074560;20379614;20429629;21030595;21056897;21532573;21988832;22446626;22465953;23349863;23382074;23398316;24583282;7757816;9175739;9545632 1620 O60477 ABBA01016259;ABBA01016260;ABBA01016261;ABBA01016262;ABBA01016263;AC006239;AF027734;AK293501;AK293649;AL138894;AL353773;AMYH02021553;AMYH02021554;BC021560;BC065196;BC071702;CH471090;NM_014618;Z41452 AAC39691;AAH21560;AAH65196;AAH71702;BAG56986;BAG57101;EAW87455;EAW87456;NP_055433;O60477 Hs.532316 1338205;1643972;1671169;1708846;1723159;1723959;1739867;1761799;2142426;2151764;2183760 AFMa239ze1;D9S1141;D9S1753;D9S195;RH118929;RH123764;SHGC-145759;SHGC-81095;STS-Z41452;T16063;WI-13592 DBC1;DBCCR1;FAM5A BMP/retinoic acid-inducible neural-specific protein 1;OTTHUMP00000022751;OTTHUMP00000022752;bA574M5.1 (deleted in bladder cancer chromosome region candidate 1 (IB3089A));bone morphogenic protein/retinoic acid inducible neural-specific 1;deleted in bladder cancer 1;deleted in bladder cancer chromosome region candidate 1;deleted in bladder cancer protein 1 APPROVED protein-coding ENSG00000078725 HGNC:2687 04181 602865 VALIDATED 1605358 BRIX1 BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN ribosome biogenesis (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 5 5 5 p13.2 34798052 34808019 + 34915820 34925787 + 34915715 34925682 + 6480464 11790298;11843177;12477932;12777385;14702039;15489334;16169070;17353931;18029348;19454010;21110914;21139048;21145461;21900206;21907836;22586326;22797925;22939629;23398456;23602568;23667531;24457600;24778252;24816145 55299 Q8TDN6;Q9NUW4 ABBA01039263;AC026801;AF347667;AK001962;AK289610;AK303311;AK307492;AMYH02011153;AY364243;AY364244;BC001546;BC006014;BC036741;BX648902;CH471119;NM_018321 AAH01546;AAH06014;AAH36741;AAL83818;AAQ76802;AAQ76803;ABM83034;ABM86228;BAA92003;BAF82299;BAG64380;EAW55909;EAW55910;NP_060791;Q8TDN6 Hs.718510 1681452;1789989;2190551;2218738;5017817;5024761;5037552 BRIX__4467;BXDC2;D8S2279;EST25A6;RH36905;RH94085;csnprad1-pcr1-1 BRIX;BXDC2;FLJ11100 OTTHUMP00000221047;brix domain containing 2;brix domain-containing protein 2;ribosome biogenesis protein BRX1 homolog APPROVED protein-coding HGNC:24170 16563 VALIDATED 1314372 BRMS1L breast cancer metastasis-suppressor 1-like The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008] 14 14 14 q13.2 16159459 16205033 + 36295524 36341169 + 35826318 35871963 + 6480464 12477932;14702039;15451426;16387653;17207965;19471022;21890473;23752268 84312 F8VRR2;H0YHD0;Q5PSV4 AA836514;ABBA01061510;ABBA01061511;ABBA01061512;AK096496;AK297106;AK309431;AK310359;AK315424;AL162311;AMYH02029015;AY827074;BC006250;BU507838;CH471078;NM_032352;XM_005268128;XM_006720274;XM_006720275 AAH06250;AAV83797;ADQ32328;BAG37812;BAG53305;BAG59617;EAW65867;NP_115728;Q5PSV4;XP_005268185;XP_006720337;XP_006720338 Hs.525299 1770477;1783040;2163270;2176461 A007C23;G36155;HSCZPC082;SHGC-144194 BRMS1;MGC11296 BRMS1-homolog protein p40;BRMS1-like protein p40;OTTHUMP00000244013;OTTHUMP00000244020;breast cancer metastasis-suppressor 1;breast cancer metastasis-suppressor 1-like protein APPROVED protein-coding ENSG00000100916 HGNC:20512 16564 REVIEWED 1322310 BRMS1 breast cancer metastasis suppressor 1 This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 11 q13-q13.2 63424705 63432490 - 66104804 66112596 - 66337333 66345125 - 1580863;2289400;6480464 15592684 10850410;11774238;11822878;12414911;12477932;12650606;14581478;15168732;15451426;15489334;15705865;15867352;16169070;16449650;16712791;16919237;17000776;17085653;17227585;17854218;17896182;18211900;18276787;18470911;18502034;18533556;18543067;18566899;18664570;18841483;19052374;19111386;19165610;19307053;19405953;19609101;19621595;20083343;20830743;20935672;21056991;21258344;21355308;21726917;21737612;21827753;21832049;21906983;21926972;22085717;22200669;22239051;22927944;22931099;23167184;23269275;23390556;23500495;23643861;23744981;23752268;23771732;24596389;24642624;24984534;8889548 25855 E9PJF5;E9PPD1;G5E9I4;H0YCF7;Q9HCU9 ABBA01024083;AF147350;AF159141;AF281036;AI797564;AK310991;AK313773;AL050008;AMYH02024975;AP001107;BC009834;BM312965;BU734281;CB130346;CB529276;CH471076;CR457173;NM_001024957;NM_015399;XM_005273883 AAG00075;AAH09834;AAK69131;BAG36511;CAB43235;CAG33454;EAW74513;EAW74514;EAW74515;EAW74516;NP_001020128;NP_056214;Q9HCU9;XP_005273940 Hs.100426 1671534;1767608 STS-W44699;WI-20154 DKFZp564A063 OTTHUMP00000235056;OTTHUMP00000235057;OTTHUMP00000235060;OTTHUMP00000235062;breast cancer metastasis-suppressor 1 APPROVED protein-coding ENSG00000174744 HGNC:17262 05879 606259 REVIEWED 1606705 BROX BRO1 domain and CAAX motif containing FOUND IN extracellular vesicular exosome; INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 1 1 1 q41 196105074 196125277 + 222885906 222908529 + 222712553 222735196 + 6480464 11181995;12477932;14702039;17411337;18190528;19056867;19403673;19738201;21139048;21890473;21963094;22162750;23000965;24250222;24816145 148362 B7Z953;F5GXQ0;Q5VW32;Q5VW33 AB276123;ABBA01048046;AI243754;AI911339;AK025140;AK056983;AK098136;AK293974;AK304445;AK315930;AL392172;AL701416;AMYH02002750;BC053552;BC105293;BC113635;BC113637;BC143811;CH471100;DB504492;DC418391;NM_001288579;NM_001288580;NM_001288581;NM_144695;NR_109927;XM_005273065;XM_005273066;XM_005273069;XM_006711173 AAI13636;AAI13638;AAI43812;BAB71331;BAF56045;BAH11637;BAH14189;BAH14301;EAW93265;NP_001275508;NP_001275509;NP_001275510;NP_653296;Q5VW32;XP_005273122;XP_005273123;XP_005273126;XP_006711236 Hs.534965;Hs.552608;Hs.600844 1655041;1680507;1692738;1697254 AL034126;RH102121;RH98227;SHGC-76398 C1orf58;FLJ32421;MGC142195;MGC142197;RP11-452F19.1 BRO1 domain containing protein;BRO1 domain- and CAAX motif-containing protein;BRO1 domain-containing protein BROX;Bro1-domain-containing protein;OTTHUMP00000035772 APPROVED protein-coding ENSG00000162819 HGNC:26512 08725 VALIDATED 1315730 BRPF3 bromodomain and PHD finger containing, 3 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN histone H3 acetylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN MOZ/MORF histone acetyltransferase complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; atrazine 6 6 6 p21 37719088 37755105 + 36164408 36200567 + 36196631 36232790 + 1580863;6480464;8554872 10574462;12477932;14574404;14630798;16387653;17474147;18794358;19322201;6457647 27154 A8WI61;A8WI62;E9PI60;E9PJ12;E9PSF3;F6XDC4;H0Y7B4;H0Y7I6;Q9ULD4 AB033112;ABBA01038253;ABBA01038254;AK000751;AK025134;AK025224;AK074362;AK123574;AK172787;AMYH02013553;BC033652;BC039615;BC117387;BC143917;BC143918;BC143919;CH471081;NM_015695;XM_005249010;XM_005249011;XM_006715059;XM_006715060;XR_241886;XR_241887;Z84485 AAH33652;AAI17388;AAI43918;AAI43919;BAA86600;BAA91359;BAB85060;EAX03877;EAX03878;EAX03879;EAX03880;EAX03881;EAX03882;NP_056510;Q9ULD4;XP_005249067;XP_005249068;XP_006715122;XP_006715123 Hs.520096 2121786;2150407;2173206;2218322;5024545 BRPF3_4470;D1S3695;RH46861;SHGC-16533;STS-N66794 OTTHUMP00000016287;OTTHUMP00000197589;OTTHUMP00000232921;OTTHUMP00000232922;OTTHUMP00000232924;bromodomain and PHD finger-containing protein 3 protein-coding ENSG00000096070 HGNC:14256 16565 VALIDATED 1316705 BRPF1 bromodomain and PHD finger containing, 1 The protein encoded by this gene is expressed ubiquitously and at the highest level in testes and spermatogonia. The protein is localized within nuclei, and it is very similar in structure to two zinc finger proteins, AF10 and AF17. It is suggested that these proteins form a family of regulatory proteins. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p26-p25 9708138 9724401 + 9773413 9789699 + 9731729 9748015 + 1580863;6480464;8554872 12477932;15302935;16387653;17081983;18029348;18051367;18469222;18794358;19001415;19913121;20211142;20400950;20628086;21139048;21720545;24258712;24333487;7906940;8946209 7862 C9JDK5;C9JHC0;P55201 ABBA01020400;AC022382;AF176815;AI356310;AK293865;AL713696;AMYH02006236;BC036374;BC053851;BC068262;BG704575;CH471055;M91585;NM_001003694;NM_004634;XM_005265449;XM_005265450;XM_005265451;XM_005265452;XM_005265453;XM_005265454 AAB02119;AAF19605;AAH53851;BAG57257;CAD28495;EAW63972;EAW63973;EAW63974;EAW63975;EAW63976;NP_001003694;NP_004625;P55201;XP_005265506;XP_005265507;XP_005265508;XP_005265509;XP_005265510;XP_005265511 Hs.1004 2110283;2114556;2128183;2134251 BRPF1__4469;RH47297;SHGC-76698;STS-M91585 BR140 OTTHUMP00000122529;OTTHUMP00000207277;OTTHUMP00000207278;OTTHUMP00000207279;bromodomain and PHD finger-containing protein 1;bromodomain-containing protein, 140kD;peregrin APPROVED protein-coding ENSG00000156983 HGNC:14255 03875 602410 REVIEWED 1353238 BRSK1 BR serine/threonine kinase 1 ENCODES a protein that exhibits magnesium ion binding; protein serine/threonine kinase activity; tau-protein kinase activity; INVOLVED IN cellular response to DNA damage stimulus; protein phosphorylation; response to UV; FOUND IN cell junction; cytoplasm; nucleus; INTERACTS WITH atrazine; hydroquinone O-beta-D-glucopyranoside; kojic acid 19 19 19 q13.4 52836546 52864920 + 55793440 55823930 + 55284166 55312562 + 1580863;6480464 11347906;12477932;14976552;15150265;15489334;16306228;16630837;18029348;18254724;18339622;18854318;19448619;19448621;19648910;21988832;22131368;24250222 84446 J3KNK0;K7EM68;K7EN26;Q8TDC3 AB058714;ABBA01068109;ABBA01068110;ABBA01068111;AC008974;AC020922;AF479826;AF479827;AK124999;AL831945;AL834275;AMYH02036457;AMYH02036458;AY458602;AY505124;BC016681;CH471135;HQ830199;NM_032430;XM_005259327;XR_430213 AAH16681;AAL87697;AAL87698;AAS10354;AAS86442;ADX95745;BAB47440;BAG54120;CAD38595;CAD38950;EAW72359;EAW72360;EAW72361;NP_115806;Q8TDC3;XP_005259384 Hs.182081 2106923 20922ef FLJ43009;KIAA1811;hSAD1 BR serine/threonine-protein kinase 1;SAD1 homolog;SAD1 kinase;SadB kinase short isoform;brain-selective kinase 1;brain-specific serine/threonine-protein kinase 1;protein kinase SAD1A;serine/threonine-protein kinase BRSK1;serine/threonine-protein kinase SAD-B;synapses of Amphids Defective homolog 1 protein-coding ENSG00000160469 HGNC:18994 12533 609235 VALIDATED 733512 BRS3 bombesin-like receptor 3 The protein encoded by this gene is a G protein-coupled membrane receptor that binds bombesin-like peptides. This binding results in activation of a phosphatidylinositol-calcium second messenger system, with physiological effects including regulation of metabolic rate, glucose metabolism, and hypertension. [provided by RefSeq, Sep 2011] X X X q26.3 135933763 135938238 + 135564521 135575931 + 136482362 136493772 + 734661;1580863;6480464 9367152 12102638;15772651;16979789;17355223;17714959;19913121;20628086;21878513;22127929;23291341;24220502;24326363;8131855;8383682;8822519;9593699 680 P32247;Q9UQK4 ABBA01055912;AF117712;AMYH02040578;AY585193;CH471150;L08893;NM_001727;X76498;XM_005262464;XM_005262465;Z97632 AAA35604;AAD21615;AAI52939;AAT79496;CAA54031;EAW88470;NP_001718;P32247;XP_005262521;XP_005262522 Hs.121484 1657518;1683056;2219040 BRS3_3941;RH79932;STS-L08893 BB3;BRS-3 G-protein coupled receptor;OTTHUMP00000024342;bombesin receptor subtype 3;bombesin receptor subtype-3 APPROVED protein-coding ENSG00000102239 HGNC:1113 02116 300107 REVIEWED 6481300 BRWD1-AS1 BRWD1 antisense RNA 1 21 21 40687633 40695144 + 39315707 39323218 + 16344560 100874093 ABBA01009343;ABBA01009344;AF064861;AMYH02037827;DB057251;HG511823;NR_046655 Hs.588102 2203094 stSG622696 AF064861.94 APPROVED ncrna ENSG00000238141 HGNC:40614 PREDICTED 1345228 BRSK2 BR serine/threonine kinase 2 ENCODES a protein that exhibits ATP binding; magnesium ion binding; protein serine/threonine kinase activity; INVOLVED IN actin cytoskeleton reorganization; G2/M transition of mitotic cell cycle; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; FOUND IN centrosome; cytoplasm; INTERACTS WITH all-trans-retinoic acid; atrazine; valproic acid 11 11 11 p15.5 1444570 1515142 + 1411129 1483919 + 1389899 1462689 + 6480464 11124703;12477932;14702039;14976552;15150265;15489334;16165222;16306228;16344560;16630837;16870137;18254724;18339622;18794342;18854318;20562859;20646422;22609399;22713462;22798068;23029325;23907667;24047693;24429156;9852686;9929968 9024 B4DLY3;B4DM60;E9PPI2;E9PRY3;H0YCS6;H0YES6;Q8IWQ3 ABBA01012142;ABBA01012143;ABBA01012144;AC091196;AC136297;AF020089;AF533876;AF533877;AF533878;AF533879;AF533880;AJ006701;AK074411;AK122851;AK123356;AK131534;AK297211;AK297306;AMYH02024168;AMYH02024169;AMYH02024170;AY166857;AY505125;BC017182;BC024291;BG395884;CH471158;DA059153;DR001379;KC877383;NM_001256627;NM_001256629;NM_001256630;NM_001282218;NM_003957;NR_046331;XM_005253218;XM_005253220;XM_006718374;XM_006718375;XM_006718376;XM_006718377;XM_006718378;XM_006718379;XR_242831;XR_428859;XR_428860;XR_428861 AAD09654;AAH24291;AAI52770;AAN87839;AAP97723;AAP97724;AAP97725;AAP97726;AAP97727;AAS86443;BAC85593;BAD18671;BAG53761;BAG59695;BAG59772;CAA07196;EAX02436;EAX02437;EAX02438;EAX02439;EAX02440;EAX02441;EAX02442;EAX02443;EAX02444;NP_001243556;NP_001243558;NP_001243559;NP_001269147;NP_003948;Q8IWQ3;XP_005253275;XP_005253277;XP_006718437;XP_006718438;XP_006718439;XP_006718440;XP_006718441;XP_006718442 Hs.170819 1687173;1757719 RH91860;SHGC-146355 C11orf7;FLJ41362;PEN11B;SAD1;SADA;STK29 BR serine/threonine-protein kinase 2;OTTHUMP00000235105;OTTHUMP00000235106;OTTHUMP00000235107;OTTHUMP00000235108;OTTHUMP00000235109;OTTHUMP00000235112;OTTHUMP00000235113;brain-selective kinase 2;brain-specific serine/threonine-protein kinase 2;protein kinase SAD1B;serine/threonine kinase 29;serine/threonine kinase SAD-A;serine/threonine-protein kinase 29;serine/threonine-protein kinase BRSK2;serine/threonine-protein kinase SAD-A protein-coding ENSG00000174672 HGNC:11405 609236 VALIDATED 1345843 BRWD1-IT2 BRWD1 intronic transcript 2 (non-protein coding) INTERACTS WITH 3-methylcholanthrene; doxorubicin 21 21 21 q22.2 25883492 25884519 - 40685861 40686888 - 39313935 39314962 - 6480464 12036297;12477932;20494980 257357 P59051 ABBA01009344;AF064861;AF426265;AMYH02037827;AW000939;BC130301;BC130303;BM553164;CH471079;NG_029919;NR_033800 AAI30302;AAI30304;AAM53521;EAX09662;EAX09663;P59051 Hs.729612 1701576;1825080;1827686;1827824;1832586;1898586;1898588;1898590;1898592;1898594;1898596;1898598;1898600;1898602;1898604;1898606;2203092 ECD13641;ECD14964;ECD15035;ECD17433;REN20089;REN20090;REN20091;REN20092;REN20093;REN20094;REN20095;REN20096;REN20097;REN20098;REN20099;RH104422;stSG622695 C21orf87;NCRNA00257 APPROVED ncrna ENSG00000255568 HGNC:16423 VALIDATED 1354337 BRWD3 bromodomain and WD repeat domain containing 3 The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene cause mental retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, May 2010] X X X q21.1 80165105 80305366 - 79924987 80065233 - 80669488 80809734 - 6480464;7240710;8554872;8699517 12477932;14702039;15489334;15543602;15772651;16094372;17081983;17668385;18775313;19377476;21890473;22024541 254065 Q6RI45 AA716141;ABBA01049135;ABBA01049136;ABBA01049137;ABBA01049138;ABBA01049139;ABBA01049140;ABBA01049141;ABBA01049142;ABBA01049143;ABBA01049144;ABBA01049145;ABBA01049146;ABBA01049147;AK090573;AK095887;AL512504;AL590031;AL669934;AMYH02039843;AMYH02039844;AMYH02039845;AMYH02039846;AMYH02039847;AMYH02039848;AY497046;AY497047;AY497048;AY497049;AY497050;AY497051;AY497052;AY497053;AY497054;AY497055;AY497056;AY497057;AY497058;AY497059;AY497060;BC039508;BC111490;BI825932;CB269573;NG_021349;NM_153252;XM_005262113;XM_005262115;XM_006724638;XR_430519 AAI11491;AAS45471;AAS45472;AAS45473;AAS45474;AAS45475;AAS45476;AAS45477;AAS45478;AAS45479;AAS45480;AAS45481;AAS45482;AAS45483;AAS45484;AAS45485;BAC04641;NP_694984;Q6RI45;XP_005262170;XP_005262172;XP_006724701 Hs.147027;Hs.613180 1683944;1766957;2109091 BRODL__4276;RH38736;SHGC-152486 BRODL;FLJ33254;FLJ38568;MRX93 OTTHUMP00000023606;bromo domain-containing protein disrupted in leukemia;bromodomain and WD repeat-containing protein 3;novel WD repeat domain protein APPROVED protein-coding ENSG00000165288 HGNC:17342 06564 300553;300659 REVIEWED 1317732 BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011] 11 11 11 q13 59786117 59805403 - 62457734 62477091 - 62690262 62709619 - 1600600;1600602;1600601;1580863;6480464;7240710;8554872;8699517 11479539;12584444;13680364 11389484;12477932;14602785;14702039;14981520;15126564;15181077;15342556;15489334;15732094;16189514;16341674;16344560;16427281;16435205;17387721;17420921;17486577;17535271;17663003;18093937;18155601;18224579;18250201;18458148;18585921;18612770;18690553;18698612;19226263;19252810;19278620;19323790;19396477;19438831;19574402;19762912;20301391;20301420;20301484;20301682;20598714;20806400;21750110;21906983;21957196;22234369;22427291;22474068;22505724;23088713;23142943;23470542;23553728;23564749;23659685;23907395;23989774;24778225;24961962;25027693;8125298;8619474;9110174 26580 E9PIU3;E9PJK0;E9PJS9;E9PPN5;E9PR78;E9PRU2;E9PSB5;F8W7Q8;F8WER0;H0YF20;H7BXM1;H7BYY0;H7C2D5;J3KQ12;Q96G97 ABBA01003238;ABBA01003239;ABBA01003240;AF052149;AK027524;AK075317;AK223606;AK225029;AK315423;AMYH02024896;AMYH02024897;AP001458;BC004911;BC009866;BC012140;BC041640;BC093048;BG699373;BM763152;BP370169;CD107822;CH471076;CQ783924;CS072299;DB178846;DB296305;NG_008461;NM_001122955;NM_001130702;NM_032667;NR_037948;NR_037949 AAH04911;AAH12140;AAH41640;AAH93048;ABM84409;ABW03570;BAB55175;BAC11543;BAD97326;CAF86927;CAI93437;EAW74070;EAW74071;EAW74072;EAW74073;EAW74074;EAW74075;EAW74076;EAW74077;EAW74078;EAW74080;EAW74081;NP_001116427;NP_001124174;NP_116056;Q96G97 Hs.533709 1298330;1335673;1739963;2127309;2139350;2167540;2178463;5106097;7187871 D11S1084;D11S1765;D11S4063;D11S4928;D11S987;Gng3;RH12527;RH12537 FLJ16651;GNG3LG;HMN5;MGC4694;PELD;SPG17 Bernardinelli-Seip congenital lipodystrophy 2 (seipin);OTTHUMP00000198002;OTTHUMP00000198004;OTTHUMP00000198005;OTTHUMP00000198006;OTTHUMP00000198007;OTTHUMP00000198008;OTTHUMP00000198009;OTTHUMP00000198013;bernardinelli-Seip congenital lipodystrophy type 2 protein;seipin APPROVED protein-coding ENSG00000168000 HGNC:15832 05858 269700;270685;600794;606158;615924 REVIEWED 5144472 BSN-AS2 BSN antisense RNA 2 (head to head) 3 3 3 p21.31 49555614 49556380 - 49586739 49591799 - 49549306 49554366 - 14702039 100132677 Q8N8P4 ABBA01024582;AC104452;AK096387;AK097709;AMYH02006752;HG495662;NR_038866 BAC04774 Hs.435651 5020946;5037552;5118444 D11S3316;D8S2279;L17971 FLJ39068;FLJ40390;RP11-949J7.7 APPROVED ncrna ENSG00000226913 HGNC:42445 VALIDATED 1605672 BSDC1 BSD domain containing 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; actinomycin D; cobalt dichloride 1 1 1 p35.1 31101180 31130531 - 32830704 32860062 - 32365103 32394461 - 6480464;8554872 12477932;12975309;14702039;15146197;15203218;15342556;15489334;16169070;16341674;16710414;20360068;21139048;21915095;8125298 55108 B4DM89;E9PNA9;E9PQA7;E9PS77;F8W6C6;Q9NW68 ABBA01023427;ABBA01023428;AK001138;AK021440;AK225026;AK225717;AK293454;AK297352;AK297604;AK300231;AK300306;AK304477;AK316172;AL109945;AMYH02000710;AMYH02000711;AY358230;BC010573;BC026322;BC028381;BM760887;BM995122;BP363955;BQ222609;BQ721446;BX505149;BX641056;CD628901;CH471059;CN302967;CR457252;CR749228;DA573011;DB159029;DB213122;NM_001143888;NM_001143889;NM_001143890;NM_001300958;NM_018045;NR_125352;XM_005270985;XM_005270986 AAH26322;AAH28381;AAQ88597;ACE86967;ACE87657;BAA91517;BAB13825;BAG56950;BAG59801;BAG59989;BAG61999;BAG62059;BAG65290;BAH14543;CAE46029;CAG33533;CAH18084;EAX07525;EAX07526;EAX07527;EAX07528;EAX07529;EAX07530;NP_001137360;NP_001137361;NP_001137362;NP_001287887;NP_060515;Q9NW68;XP_005271042;XP_005271043 Hs.353454 1694434;1768674;2127204;2132824;2145434;2145589;2154653;2162972;5093068 A007F44;A009F08;G32500;G42922;RH16033;RH41796;RH64707;SHGC-74479;SHGC-74531 DKFZp686B09139;FLJ10276;RP4-811H24.7 BSD domain-containing protein 1;OTTHUMP00000008867;OTTHUMP00000008869;OTTHUMP00000211102;OTTHUMP00000232914;OTTHUMP00000232915;OTTHUMP00000232916 protein-coding ENSG00000160058 HGNC:25501 07658 VALIDATED 2306586 BSPH1 binder of sperm protein homolog 1 ENCODES a protein that exhibits heparin binding (inferred); INVOLVED IN single fertilization (inferred); sperm capacitation (inferred); FOUND IN cell surface (inferred); extracellular region (inferred) 19 19 19 q13.33 45336802 45361003 - 48471303 48495427 - 47968046 47992170 - 15057824;17085770;18923155;19091820 100131137 Q075Z2 ABBA01033020;ABBA01033021;AC010330;AMYH02036279;AMYH02036280;DQ227497;NM_001128326;XM_005258394;XM_006722959 ABB71591;NP_001121798;Q075Z2;XP_005258451;XP_006723022 Hs.651072 BSP1;ELSPBP2 binder of sperm 1;bovine seminal plasma protein homolog 1;bovine seminal plasma protein-like 1;epididymal sperm binding protein 2 protein-coding ENSG00000188334 HGNC:33906 612213 VALIDATED 735544 BSN bassoon presynaptic cytomatrix protein Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 49556534 49673679 + 49591922 49708982 + 49554489 49671551 + 1580863;6480464;8554872 10329005;12477932;12628169;14734538;15217342;16751776;17554261;17554300;17620599;18029348;19165527;19367581;19422935;19567891;19657358;19812333;19915572;20024904;20307617;20846217;21092860;21092861;21102463;21297633;21700703;21906983;23128233;9455477;9679147;9806829 8927 Q9UPA5 AB007894;ABBA01024577;ABBA01024578;ABBA01024579;ABBA01024580;ABBA01024581;AC099668;AC104452;AF052224;AMYH02006753;AMYH02006754;AMYH02006755;AMYH02006756;AW131629;CH471055;NG_015892;NM_003458;XM_006713380;Y18448;Y18449;Y18450;Y18451;Y18452 AAC83555;BAA23707;CAA77176;EAW64992;EAW64993;NP_003449;Q9UPA5;XP_006713443 Hs.194684 1341798;2123049;2127855 D3S2456;D3S3133;G35047 ZNF231 OTTHUMP00000165198;bassoon (presynaptic cytomatrix protein);neuronal double zinc finger protein;protein bassoon;zinc finger protein 231 APPROVED protein-coding ENSG00000164061 HGNC:1117 04933 604020 REVIEWED 1347567 BSPRY B-box and SPRY domain containing ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN calcium ion transport (inferred); FOUND IN cell leading edge (inferred); membrane (inferred); perinuclear region of cytoplasm (inferred); INTERACTS WITH atrazine; formaldehyde; silicon dioxide 9 9 9 q32 86759422 86781124 + 116111812 116133513 + 113349532 113371233 + 6480464 10978534;11099500;12477932;12615066;14702039;15164053;15489334;18029348;19929093 54836 Q5W0U4 ABBA01042687;ABBA01042688;AJ276691;AK000157;AK092607;AL137066;AMYH02021509;BC001477;BX462607;CH471090;EL954585;NM_017688;W44700;XM_005252062;XM_005252063;XM_006717149 AAH01477;BAA90980;BAG52581;CAC09324;EAW87374;NP_060158;Q5W0U4;XP_005252119;XP_005252120;XP_006717212 Hs.614517 1337499;1648971;1649771 D7S647;RH35922;SHGC-34969 FLJ20150 B box and SPRY domain-containing protein;B-box and SPRY-domain containing protein;OTTHUMP00000022728;zetin 1 protein-coding ENSG00000119411 HGNC:18232 16566 VALIDATED 1345101 BRWD1 bromodomain and WD repeat domain containing 1 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] 21 21 21 q22.2 25755073 25883187 - 40556102 40685745 - 39184176 39313819 - 6480464;8554872 10830953;12359327;12477932;12889071;14702039;15840729;16344560;16780588;16964240;18029348;18775313;19471022;20014019;20379614;21139048;21145461;21832049;21890473;22365631;25011449;8889548;9480850 54014 H0Y463;H0Y4A7;H0Y4R9;H0Y500;H0Y5I9;H7BZR9;H7C409;Q9NSI6 AA807344;AB080586;AB080587;AB080588;AB080589;AB080590;AB080591;AB080592;AB080593;ABBA01009344;ABBA01009345;ABBA01009346;ABBA01009347;ABBA01009348;AF064861;AF129408;AI307266;AJ002572;AJ002574;AJ222635;AJ222636;AJ238214;AJ238555;AJ238556;AJ238573;AJ292465;AJ292466;AK002177;AK125906;AL109785;AL109786;AL162036;AL163279;AL558272;AMYH02037824;AMYH02037825;AMYH02037826;AMYH02037827;AU139205;BC031545;BC047058;BC064602;BC142986;BI914338;BP397411;BQ930702;CA503340;CH471079;DA792365;KF457303;KF457305;NG_029919;NM_001007246;NM_018963;NM_033656;XM_005260994 AAH64602;AAI40080;AAI42987;BAD74071;BAD74072;BAD74073;BAD74074;BAD74075;BAD74076;BAD74077;BAD74078;CAA10896;CAB90452;CAC37033;CAC44371;CAC44372;EAX09657;EAX09658;EAX09659;EAX09660;EAX09661;NP_001007247;NP_061836;NP_387505;Q9NSI6;XP_005261051 Hs.627139;Hs.654740 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N19985;REN19986;REN19987;REN19988;REN19989;REN19990;REN19991;REN19992;REN19993;REN19994;REN19995;REN19996;REN19997;REN19998;REN19999;REN20000;REN20001;REN20002;REN20003;REN20004;REN20005;REN20006;REN20007;REN20008;REN20009;REN20010;REN20011;REN20012;REN20013;REN20014;REN20015;REN20016;REN20017;REN20018;REN20019;REN20020;REN20021;REN20022;REN20023;REN20024;REN20025;REN20026;REN20027;REN20028;REN20029;REN20030;REN20031;REN20032;REN20033;REN20034;REN20035;REN20036;REN20037;REN20038;REN20039;REN20040;REN20041;REN20042;REN20043;REN20044;REN20045;REN20046;REN20047;REN20048;REN20049;REN20050;REN20051;REN20052;REN20053;REN20054;REN20055;REN20056;REN20057;REN20058;REN20059;REN20060;REN20061;REN20062;REN20063;REN20064;REN20065;REN20066;REN20067;REN20068;REN20069;REN20070;REN20071;REN20072;REN20073;REN20074;REN20075;REN20076;REN20077;REN20078;REN20079;REN20080;REN20081;REN20082;REN20083;REN20084;REN20085;REN20086;REN20087;REN20088;REN20089;REN20090;REN20091;REN20092;REN20093;REN20094;RH104422;RH65270;RH66958;RH78619;SHGC-30753;SHGC-51888;SHGC-87637;SHGC-87640;STS-R31946;WI-21887;stSG622591;stSG622592;stSG622593;stSG622594;stSG622595;stSG622596;stSG622597;stSG622598;stSG622599;stSG622600;stSG622601;stSG622602;stSG622603;stSG622604;stSG622605;stSG622606;stSG622607;stSG622608;stSG622609;stSG622610;stSG622611;stSG622612;stSG622613;stSG622614;stSG622615;stSG622616;stSG622617;stSG622618;stSG622619;stSG622620;stSG622621;stSG622622;stSG622623;stSG622624;stSG622625;stSG622626;stSG622627;stSG622628;stSG622629;stSG622630;stSG622631;stSG622632;stSG622633;stSG622634;stSG622635;stSG622636;stSG622637;stSG622638;stSG622639;stSG622640;stSG622641;stSG622642;stSG622643;stSG622644;stSG622645;stSG622646;stSG622647;stSG622648;stSG622649;stSG622650;stSG622651;stSG622652;stSG622653;stSG622654;stSG622655;stSG622656;stSG622657;stSG622658;stSG622659;stSG622660;stSG622661;stSG622662;stSG622663;stSG622664;stSG622665;stSG622666;stSG622667;stSG622668;stSG622669;stSG622670;stSG622671;stSG622672;stSG622673;stSG622674;stSG622675;stSG622676;stSG622677;stSG622678;stSG622679;stSG622680;stSG622681;stSG622682;stSG622683;stSG622684;stSG622685;stSG622686;stSG622687;stSG622688;stSG622689;stSG622690;stSG622691;stSG622692 C21orf107;FLJ43918;N143;WDR9 OTTHUMP00000068796;OTTHUMP00000068797;OTTHUMP00000068928;OTTHUMP00000207967;WD repeat protein WDR9-form2;WD repeat-containing protein 9;bromodomain and WD repeat-containing protein 1;cAMP response element binding and beta-tranducin family-like;transcriptional unit N143 APPROVED protein-coding ENSG00000185658 HGNC:12760 11683 REVIEWED 1342632 BST1 bone marrow stromal cell antigen 1 Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008] 4 4 4 p15 16169208 16198432 + 15704573 15741121 + 15702950 15739498 + 1580863;6480464;6907045;8554872 10599889;11439087;11602246;11866528;12415565;12477932;15328157;15489334;15815621;16335952;16344560;18211745;19052657;19915576;20639476;20697102;20711177;21044948;21084426;21248740;21292315;21478153;21988832;22451204;22490479;22916288;23026536;23820587;23827523;23853107;24413464;24753259;24795584;8202488;8630113;8645283;8889548;8941363;9030974 683 A6NC48;H0Y8G4;H0Y984;H0Y9Q9;Q10588 AB175627;ABBA01032572;AC005798;AC114744;AK312497;AMYH02008801;AMYH02008802;BC012095;BT019502;BU732655;CH471069;D21878;DA382561;NM_004334;XM_005248184;XM_005248185;XM_005248186 AAH12095;AAV38309;AAY40930;BAA04885;BAE92566;BAG35399;EAW92744;NP_004325;Q10588;XP_005248241;XP_005248242;XP_005248243 Hs.720344 1852460;2178676;2178678;2217080;5125864 BST1_2659;RH17388;RH36393;SHGC-35585;SHGC-50363 BST-1;CD157 ADP-ribosyl cyclase 2;ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2;NAD(+) nucleosidase;OTTHUMP00000123364;OTTHUMP00000123365;OTTHUMP00000217617;bone marrow stromal antigen 1;cADPr hydrolase 2;cyclic ADP-ribose hydrolase 2 APPROVED protein-coding ENSG00000109743 HGNC:1118 02665 600387 VALIDATED 1346555 BST2 bone marrow stromal cell antigen 2 Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 17415480 17418112 - 17502238 17516458 - 17402939 17405648 - 1580863;6480464;8554872 10329429;12477932;12761501;15489334;16157322;16602701;18029348;18200009;18200012;18342597;18468560;18541215;18653459;18789977;19032371;19036818;19056867;19091864;19149577;19149995;19196977;19214216;19244337;19273615;19286130;19286137;19305418;19338666;19359243;19436700;19461879;19474106;19478868;19490609;19501037;19515779;19564354;19605472;19694548;19730691;19737401;19740980;19742323;19837671;19864625;19879831;19879838;19917491;19917496;19929170;19946888;20012522;20015985;20019814;20078884;20126395;20140192;20147389;20147395;20147723;20167081;20179761;20201792;20221443;20237496;20329562;20386718;20399176;20419159;20434978;20444895;20444900;20485522;20529266;20571604;20585562;20628624;20636339;20638642;20686043;20688520;20702620;20708210;20798829;20850859;20858517;20861257;20861258;20880831;20920359;20926557;20940320;20980512;21068238;21084286;21094940;21176220;21184674;21191020;21209114;21222046;21237475;21238941;21238946;21304933;21310048;21490095;21504576;21529378;21601230;21607084;21610122;21621240;21625568;21645334;21674066;21687426;21741003;21757214;21775449;21775465;21796732;21808013;21813615;21849457;21874899;21900423;21902775;21918813;21922073;21937450;21940748;21955466;21963094;21988832;21994665;21994744;21994772;22072710;22072961;22072966;22090135;22103835;22110710;22130541;22171785;22180752;22194693;22222210;22264038;22286874;22291694;22301143;22315404;22357275;22383521;22398279;22405001;22421880;22479182;22479480;22493439;22509177;22520941;22524175;22524176;22524177;22524178;22524179;22524180;22524181;22530020;22533470;22553496;22647704;22667354;22811908;22855686;22952667;22980332;22980333;22999946;23028328;23043100;23047007;23047923;23077864;23148293;23152502;23159053;23188559;23201263;23221546;23223624;23240078;23260108;23284757;23303646;23308067;23311681;23367562;23378022;23401591;23408603;23411007;23422647;23468424;23514615;23528733;23555649;23582304;23613843;23633949;23825473;23831603;23840623;23874200;23916489;23919512;23937976;23966385;24035804;24036078;24066097;24067975;24067977;24075872;24086611;24257748;24418563;24498878;24623433;24733916;7607676;8125298;8522202 684 Q10589 ABBA01051198;AC010319;AI077344;AK223124;AK291099;AK303593;AMYH02035704;AY320402;BC033873;CB047887;CH471106;D28137;NM_004335 AAH33873;AAP73804;BAA05679;BAD96844;BAF83788;BAG64608;EAW84602;EAW84603;NP_004326;Q10589 Hs.118110 1685249;1698158;1852237;2131548;2163175;2168109 RH102614;RH78341;RH80754;SHGC-35522;STS-R65788;STS-T47132 BST-2;CD317;NPC-A-7 HM1.24 antigen;OTTHUMP00000231653;bone marrow stromal antigen 2;tetherin APPROVED protein-coding ENSG00000130303 HGNC:1119 02759 600534 REVIEWED 10249 BSG basigin (Ok blood group) The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 234501 246669 - 571277 583493 + 571277 583493 + 734663;734662;1580863;2289051;2289053;2289063;2289052;2289054;2289055;2289059;2296028;2296029;6480464;6484113 16004819;16029217;16627983;16633062;17021824;17342307;17671123;18223224;9154157;9245724;9559645 10706100;10880960;10921872;11688976;11943775;11992541;12117738;12173047;12174874;12477932;12526080;12553375;12558975;12692261;12754519;12792908;12898514;12902469;12925876;12939332;12975309;14671212;14702039;14707126;14729463;14749763;14985463;15057824;15161697;15181074;15201341;15340161;15489334;15632013;15671024;15711733;15770719;15823273;15831673;15833850;15890777;15901826;15904490;15917240;15946952;16080871;16189514;16196087;16207318;16310185;16339461;16344560;1634773;16396496;16425263;16443928;16461815;16507143;16712791;16721788;16771728;16778084;16824781;16911716;17050542;17081065;17081983;17088917;17127621;17145878;17209789;17255364;17267690;17353931;17441962;17444954;17460779;17540176;17579119;17589939;17593815;17633444;17706116;17725804;1783610;17962725;17965264;17996943;18035727;18048771;18160397;18160808;18256385;18273614;18430721;18431027;18434307;18456655;1846736;18508606;18554952;18567995;18608214;18664479;18665467;18688595;18689500;18689982;18695939;18751374;18762818;18774544;18778892;18781797;18816083;18847500;18852494;18997004;19015455;19019082;19019167;19048397;19093255;19176030;19176383;19214198;19223118;19298604;19337990;19350111;19372030;19427027;19438743;19473445;19500591;19541433;19548138;19580345;19582878;19597352;19615356;19615732;19639092;19734590;19751784;19758589;19768682;19775453;19779140;19863615;19885565;19913121;19921476;19946888;19950699;19956835;19995409;20021816;20021962;20021964;20047591;20060267;20082657;20082877;20083879;20147391;20199151;20213083;20236683;2032306;20345978;20360068;20369477;20381119;20384626;20406987;20451353;20451562;20454640;20455995;20473759;20483678;20509007;20514014;20514493;20525232;20558462;20563831;20628086;20629990;20631064;20646600;20658178;20810913;20824203;20969816;21039753;21083710;21119439;21145461;21146836;21165561;21211394;21228176;21245143;21320284;21328337;21343160;21355964;21441138;21464540;21470566;21532623;21536654;21554254;21563192;21613799;21620857;21641389;21655935;21660043;21665938;21687950;21693764;21694447;21724278;21726808;21745000;21787388;21789540;21809360;21870331;21890473;21906983;21918972;21924036;21937704;21942715;21956400;21963094;21967109;21987572;21994090;22053931;22080952;22129926;22130661;22192282;22198615;22200845;22200897;22215147;22268729;22280229;22298186;22304920;22320715;22366034;22374422;22389410;22417846;22427101;22460757;22490855;22505724;22555451;22575025;22592183;22595757;22626996;22640183;22659167;22670315;22729071;22800476;22844419;22870202;22883094;22906282;23005037;23012390;23054081;23097496;23135911;23178078;23221648;23249715;23258846;23263825;23292863;23383273;23389916;23393905;23413783;23463506;23474495;23516431;23536308;23554123;23566400;23577575;23598007;23602236;23622764;23623923;23665204;23669100;23686717;23687119;23716178;23817808;23828593;23861727;23879967;23888049;23925827;23936495;23948277;23948694;23950866;23966157;24013424;24013786;24014600;24019861;24064772;24073208;24090196;24131772;24132924;24250222;24264599;24297912;24309224;24337577;24374756;24379084;24654937;24661733;24816145;24906624;25015289;7273846;7812975;7821789;8404035;8752667;9130641;9360995;9767135 682 I3L192;P35613;Q54A51;R4GMX5;R4GN83 AB072923;AB085790;AB091680;ABBA01002575;AC005559;AC009005;AF042854;AF548371;AK095912;AK296858;AK297880;AK302231;AMYH02035115;AY358113;AY942196;BC009040;BG480530;BI464857;BU501595;CB153773;CH471242;D28441;D45131;DA007913;GU557064;GU557065;L10240;L20471;M87879;NG_007468;NM_001728;NM_198589;NM_198590;NM_198591;X64364;XM_005259619 AAA68936;AAA91084;AAB41120;AAC33279;AAD10704;AAH09040;AAN40694;AAQ88480;AAX20110;ADD31881;ADD31882;ADZ15997;BAA05807;BAA08109;BAB88938;BAC67168;BAC76828;BAG59422;BAG60203;BAG63585;CAA45716;EAW61180;EAW61181;EAW61182;EAW61183;EAW61184;EAW61185;EAW61186;EAW61187;NP_001719;NP_940991;NP_940992;NP_940993;P35613;XP_005259676 Hs.501293 1682025;5111635 RH79940;RH80808 5F7;CD147;M6;OK;TCSF CD147 antigen;EMMPRIN;OK blood group antigen;basigin;collagenase stimulatory factor;extracellular matrix metalloproteinase inducer;leukocyte activation antigen M6;tumor cell-derived collagenase stimulatory factor APPROVED protein-coding ENSG00000172270 HGNC:1116 00176 109480;111380 REVIEWED 1346772 BSND barttin CLCNK-type chloride channel accessory beta subunit This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008] 1 1 1 p32.1 53752220 53762073 + 55464617 55474465 + 54998944 55008792 + 1600603;1580863;6480464;7240710;8554872;8699517 11687798 11734858;12111250;12477932;12574213;12761627;15489334;15496163;16572343;16773427;16849430;17510212;17652939;17954364;18094726;18776122;18843510;19096086;19646679;19913121;20301607;20628086;21269598;21541222;21832049;23110775 7809 Q5VU50;Q8WZ55 ABBA01074702;ABBA01074703;ABBA01074704;AK129999;AL589790;AL590440;AMYH02001062;AY034632;BC069510;BC103898;BC103899;BC103900;CH471059;NG_008965;NM_057176;XM_006710883 AAI03899;AAI03900;AAI03901;AAK57750;EAX06661;NP_476517;Q8WZ55;XP_006710946 Hs.151291 1336013;1722873;1792534;2107899 BSND_8762;D1S2652;G60531;PMC153210P1 BART;DFNB73;MGC119283;MGC119284;MGC119285 Bartter syndrome, infantile, with sensorineural deafness (Barttin);OTTHUMP00000009804;barttin;deafness, autosomal recessive 73 APPROVED protein-coding HGNC:16512 05914 602522;606412 REVIEWED 1626189 BSX brain-specific homeobox ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN eating behavior (inferred); locomotory behavior (inferred); mammary gland involution (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); transcription factor complex (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); lead diacetate (ortholog) 11 11 11 q24.1 120007843 120011864 - 122848357 122852379 - 122977649 122981671 - 6480464 14678827;17353277;18029348;18855024;21102462 390259 Q3C1V8 AB231738;ABBA01031278;AMYH02025709;AP003040;NM_001098169 BAE46889;NP_001091639;Q3C1V8 Hs.449687 BSX1 OTTHUMP00000196762;brain specific homeobox;brain-specific homeobox protein homolog protein-coding ENSG00000188909 HGNC:20450 611074 VALIDATED 2301265 BTBD17 BTB (POZ) domain containing 17 INVOLVED IN negative regulation of viral genome replication (ortholog); response to virus (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); plasma membrane (ortholog); INTERACTS WITH trichostatin A; valproic acid; benzo[a]pyrene (ortholog) 17 17 17 q25.1 68945277 68950680 - 72352555 72357958 - 74356416 74361819 - 6480464;8554872 16625196 388419 A6NE02 ABBA01028841;AC103809;AMYH02033975;CH471099;NM_001080466 A6NE02;AAI68374;EAW89155;NP_001073935 Hs.211870 BTBD17A;LGALS3BPL;TANGO10A BTB/POZ and BACK domain-containing protein LOC388419;BTB/POZ domain-containing protein 17;galectin-3-binding protein-like;transport and golgi organization 10 homolog A protein-coding ENSG00000204347 HGNC:33758 PROVISIONAL 1318539 BTBD11 BTB (POZ) domain containing 11 ENCODES a protein that exhibits protein heterodimerization activity (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 12 12 12 q23.3 107377745 107718969 + 107712197 108053419 + 107318420 107659642 + 6480464;8554872 12477932;14702039;19734545;19913121;20379614;20628086 121551 A6QL63;B3KVD0;B3KXB0;C9JV03;H0YHR1 ABBA01053152;ABBA01053153;ABBA01053154;ABBA01053155;ABBA01053156;ABBA01053157;ABBA01053158;ABBA01053159;ABBA01053160;AC007540;AC007649;AC009774;AI638039;AK091276;AK094304;AK122818;AK124835;AK127012;AK127295;AK128445;AMYH02027141;AMYH02027142;AMYH02027143;AMYH02027144;AMYH02027145;AY373588;BC027931;BC093627;BC093629;BC101561;BC101563;BC146824;CH471054;NM_001017523;NM_001018072;XM_005268645 A6QL63;AAH93627;AAH93629;AAI01562;AAI01564;AAI46825;AAR21078;BAC03626;BAC85963;BAG53742;BAG54422;BAG54475;BAG54675;EAW97799;EAW97800;EAW97801;NP_001017523;NP_001018082;XP_005268702 Hs.271272 1337585;1671402;1712386;1712390;1712396;1712400;1722743;1734048;1763323;1772124;2121140;2148191;2153327;5014051;5024039;5037552 D11S3993;D12S1109;D12S1110;D12S1126;D12S1865;D12S353;D16S325;D8S2278;D8S2279;G54219;G54221;G54225;G54227;G60310;SHGC-147049;STS-W15573 ABTB2B;FLJ33957;FLJ42845 ANK-repeat BTB domain containing protein;BTB/POZ domain-containing protein 11;OTTHUMP00000197304;OTTHUMP00000197305;OTTHUMP00000197306;OTTHUMP00000242590;ankyrin repeat and BTB/POZ domain-containing protein BTBD11 protein-coding ENSG00000151136 HGNC:23844 12536 VALIDATED 1352187 BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011] 10 10 10 q22-q23 87427411 87534594 + 93683526 93790755 + 91923769 92030998 + 1580863;6480464;8554872 10642510;12477932;12646231;14988402;15302935;15509807;16385451;16531235;18025106;19322201;19454010;19471022;19505873;20379614;20627952;21139048;21252943;21890473;21988832;22939629;24816145;7835343;7836461;7933101;8121496;8680883;8764009;8764062;8849451;9054383;9159119;9342322;9488487 9044 O14981;Q2M1V9;Q8N6J1 AB208843;ABBA01021919;ABBA01021920;ABBA01021921;AF038362;AF166116;AF166118;AJ001017;AK303554;AK308399;AL359198;AL365398;AMYH02023523;AMYH02023524;AMYH02023525;AMYH02023526;BC029930;BC030273;BC047009;BC112201;CH471066;CQ834836;NM_003972;XM_005270265;XM_005270266;XR_246113 AAC04573;AAF37802;AAF37803;AAH29930;AAH30273;AAH47009;AAI12202;BAD92080;BAG64578;CAA04475;CAH05633;EAW50102;EAW50103;NP_003963;O14981;XP_005270322;XP_005270323 Hs.500526 2217082 BTAF1_3495 KIAA0940;MGC138406;MOT1;TAF(II)170;TAF172;TAFII170 ATP-dependent helicase BTAF1;B-TFIID transcription factor-associated 170 kDa subunit;BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae);Mot1 homolog;OTTHUMP00000020093;TATA-binding protein-associated factor 172;TBP-associated factor 172 APPROVED protein-coding ENSG00000095564 HGNC:17307 05546 605191 VALIDATED 1322160 BTBD1 BTB (POZ) domain containing 1 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 15 15 15 q24 60850514 60901468 + 83685175 83736106 - 83016423 83067434 - 1580863;6480464 10737800;11076863;11179693;11230166;11256614;11818025;12477932;12878161;14702039;15486563;15489334;15489336;16381901;17543862;17549794;18247557;18305892;19295130;19460752;19615732;19995937;20531441;21092135;21145461;21326860;21890473;21906983;21963094;22505724;25011449;8125298 53339 H0YL89;Q9H0C5 ABBA01029433;ABBA01029434;AC022558;AC024270;AF257241;AF355402;AF529369;AK000731;AK225355;AK225362;AK294410;AK298534;AL136853;AMYH02030923;AMYH02030924;AMYH02030925;AY364253;BC017464;BC028097;BF095127;BI553790;CH471188;NM_001011885;NM_025238;XM_006720573 AAH28097;AAK17068;AAK25825;AAQ09603;AAQ76812;ABM82384;ABM85561;BAA91345;BAH11757;BAH12808;CAB66787;CAL38638;EAW62429;EAW62430;NP_001011885;NP_079514;Q9H0C5;XP_006720636 Hs.459149 1339899;1650262;1653639;1665933;1670701;1710720;1730103;1736512;1760599;2165676;2166586;2183516;7185569 D15S133E;D15S200;D15S623E;D15S719E;G09681;SHGC-144150;SHGC-63476;SHGC-63477;SHGC-83690;STS-R67078;STS-T59353;WI-13449 C15orf1;NS5ATP8 BTB domain containing 1;BTB/POZ domain-containing protein 1;HCV NS5A-transactivated protein 8;OTTHUMP00000190872;hepatitis C virus NS5A-transactivated protein 8 APPROVED protein-coding ENSG00000064726 HGNC:1120 12251 608530 REVIEWED 1322924 BTBD16 BTB (POZ) domain containing 16 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; mercaptopurine (ortholog) 10 10 10 q26.13 117763200 117830044 + 124030811 124097676 + 122271296 122338161 + 6480464;8554872 12477932;14702039;15164054;15489334;16385451;18519826;19488044;20379614;22990118;23577725 118663 Q32M84 AA926746;ABBA01062846;AK058088;AL135793;AMYH02023948;AMYH02023949;BC109261;BC109262;BX842243;CH471066;NM_144587;XM_005269494;XM_006717616 AAI09262;AAI09263;BAB71658;EAW49320;EAW49321;NP_653188;Q32M84;XP_005269551;XP_006717679 Hs.422466 C10orf87;FLJ25359;MGC129864;MGC129865 BTB/POZ domain-containing protein 16;OTTHUMP00000020649;chromosome 10 open reading frame 87 protein-coding ENSG00000138152 HGNC:26340 12594 VALIDATED 1601947 BTBD10 BTB (POZ) domain containing 10 INVOLVED IN negative regulation of neuron death (ortholog); positive regulation of phosphorylation (ortholog); type B pancreatic cell proliferation (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 11 11 11 p15.2 13535739 13611028 - 13409555 13484838 - 13388008 13463291 - 6480464 12477932;14702039;15489334;15556295;16169070;16344560;18029348;18160256;20379614;21139048;21145461;21267538;21900206;21906983;21963094;21988832;22321011;22388351;23000965;23080069;23320755 84280 B7Z503;D3DQW7;E9PKM7;E9PKU9;E9PN21;E9PPD8;Q6P5W1;Q9BSF8 ABBA01061123;ABBA01061124;ABBA01061125;AC016884;AC021269;AF329102;AI051522;AK095946;AK292392;AK294259;AK294768;AK298226;AK310935;AK316163;AL832981;AMYH02024350;AY221959;BC005071;BC017072;BC062633;CH471064;DB030132;NM_001297741;NM_001297742;NM_032320;XM_005253164;XM_005253165;XM_006718345 AAH05071;AAH17072;AAH62633;AAL69061;AAO64360;ACE86711;ACE87396;BAF85081;BAH11714;BAH11877;BAH12739;BAH14534;CAH56329;EAW68497;EAW68498;EAW68499;EAW68500;EAW68501;EAW68502;NP_001284670;NP_001284671;NP_115696;Q9BSF8;XP_005253221;XP_005253222;XP_006718408 Hs.332382 1340715;1644947;1652650;1652652;1744311;1797148;7184463 A005L39;D11S926;G20319;GDB:451631;HSC0WD062;MGC13007 GMRP-1;GMRP1;MGC13007 BTB (broad-complex tramtrack and bric-a-brac/pox virus and zinc finger) domain-containing protein 10;BTB/POZ domain-containing protein 10;K+ channel tetramerization protein;OTTHUMP00000230967;OTTHUMP00000230969;OTTHUMP00000230970 protein-coding ENSG00000148925 HGNC:21445 17045 615933 VALIDATED 2923345 BTBD18 BTB (POZ) domain containing 18 INTERACTS WITH lead(0); lead(2+) 11 11 11 q12.1 54867702 54875969 - 57510986 57519253 - 57743514 57751781 - 6480464 11181995;12477932 643376 B2RXH4;E9PRF5 ABBA01021477;AI699344;AMYH02024846;AP001931;BC157853;BC157854;CH471076;DC346943;NM_001145101;XM_006718664 AAI57854;AAI57855;B2RXH4;EAW73783;NP_001138573;XP_006718727 Hs.606355 1782232 SHGC-100291 BTB/POZ domain-containing protein 18;OTTHUMP00000235477;hCG1730474 protein-coding ENSG00000233436 HGNC:37214 VALIDATED 7204475 BTBD7P1 BTB (POZ) domain containing 7 pseudogene 1 10 10 10 p13 13125506 13126961 - 13198681 13200136 - 13156681 13158136 - 441548 ABBA01034632;AL355355;AMYH02022171;NG_022140 pseudo HGNC:44875 INFERRED 3031244 BTBD19 BTB (POZ) domain containing 19 INTERACTS WITH trimellitic anhydride (ortholog); valproic acid (ortholog) 1 1 1 p34.1 43557034 43562677 + 45273373 45279801 + 44807704 44814151 + 6480464 14702039 149478 C9JJ37 ABBA01050907;AK056150;AK304611;AL592166;AMYH02000919;NM_001136537;XM_006710385;XM_006710386;XM_006710387;XR_246238 BAG65396;C9JJ37;NP_001130009;XP_006710448;XP_006710449;XP_006710450 Hs.632400 1743409;1780204;2161173;5015619;5015861;5037552;7185938 AL009769;D10S16;D11S3114;D8S2279;GDB:316029;SHGC-154623 RP11-269F19.7 BTB/POZ domain-containing protein 19;OTTHUMP00000203846;novel BTB domain containing protein protein-coding ENSG00000222009 HGNC:27145 PROVISIONAL 1352605 BTBD6 BTB (POZ) domain containing 6 FOUND IN cytoplasm (inferred); INTERACTS WITH atrazine; cobalt dichloride; methyl methanesulfonate 14 14 14 q32 85764120 85766668 + 105714879 105717430 + 105248542 105251093 + 1580863;6480464 12107413;12477932;15489334;16751776;20080956;21573799;21988832;22990118;8889548 90135 F8VPC8;Q96KE9 ABBA01008868;ABBA01008869;AF086420;AF173358;AF353674;AL512355;AMYH02029964;BC006414;BC042525;BU730253;CH471061;DB456488;NG_029489;NM_033271;XM_005268188 AAF36536;AAH06414;AAH42525;AAK39520;EAW81913;EAW81914;NP_150374;Q96KE9;XP_005268245 Hs.7367 1712274;2173980 G54046;SGC31908 BDPL BTB domain protein BDPL;BTB/POZ domain-containing protein 6;OTTHUMP00000163908;OTTHUMP00000212815;OTTHUMP00000243800;glucocorticoid receptor AF-1 coactivator-1;lens BTB domain protein protein-coding ENSG00000184887 HGNC:19897 12540 VALIDATED 1345329 BTBD7 BTB (POZ) domain containing 7 INVOLVED IN multicellular organismal development (inferred); regulation of branching involved in salivary gland morphogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (ortholog); INTERACTS WITH 17beta-estradiol; 2-methylcholine; benzo[a]pyrene diol epoxide I 14 14 14 q32.12 73757920 73853399 - 93703896 93799385 - 93237550 93333092 - 6480464;8554872 10819331;11527404;12477932;14702039;15489334;21145461;21906983;23325674;24250222 55727 G3V2J4;G3V3T2;H0YJ41;H3BLV3;Q9P203 AB040958;ABBA01030432;ABBA01030433;ABBA01030434;AI452701;AK001510;AK021953;AK074354;AK091287;AK291422;AK303355;AL049394;AL122023;AL132838;AMYH02029771;AMYH02029772;BC047071;BC141850;BX248762;BX538231;CH471061;NM_001002860;NM_001289133;NM_018167;XM_006720195;XM_006725166 AAH47071;AAI41851;AAI67795;BAA91730;BAA96049;BAB13946;BAF84111;BAG64416;CAD66569;CAD98074;CAH10736;EAW81525;EAW81526;EAW81527;EAW81528;EAW81529;NP_001002860;NP_001276062;NP_060637;Q9P203;XP_006720258;XP_006725229 Hs.525549 1338362;1660252;1667847;1754733;1851482;1855420;2128070;2147949;2156192;2170633;2172077;2191239;5015404;5016478;5021396;7187892 D14S574;D14S81;G35930;GDB:313783;GDB:434012;L17705;MARC_16723-16724:1018027059:1;RH11308;RH44522;RH44561;RH48317;RH69546;SHGC-133097;SHGC-36758;WI-20863 DKFZp686N0544;FUP1;MGC48310 BTB/POZ domain-containing protein 7;OTTHUMP00000245685;OTTHUMP00000245686;OTTHUMP00000245687;OTTHUMP00000245688 protein-coding ENSG00000011114 HGNC:18269 12541 610386 VALIDATED 7204476 BTBD7P2 BTB (POZ) domain containing 7 pseudogene 2 10 10 10 q25 106814909 106815533 + 113082536 113083160 + 111322778 111323402 + 100420392 ABBA01063014;ABBA01063015;AC021035;AMYH02023804;NG_025540 pseudo HGNC:44876 INFERRED 1323177 BTBD3 BTB (POZ) domain containing 3 INVOLVED IN cerebral cortex development (ortholog); dendrite morphogenesis (ortholog); FOUND IN cytosol (ortholog); nucleus (ortholog); INTERACTS WITH 17beta-estradiol; arsane; arsenic atom 20 20 20 p12.2 11941645 11977412 + 11871377 11907243 + 11890723 11926595 + 1580863;6480464 10231032;11780052;12421765;12477932;14702039;19322201;20463552;21348951;21720722;21890473;21963094;21987572;23000965;23251661;24250222;8889549 22903 B0QYQ9;B0QYR0;B0QYR1;B4DK27;B4DRI6;F8WAQ4;Q9Y2F9 AA127941;AB023169;ABBA01053947;AK024349;AK296364;AK299281;AK300371;AK307472;AK316256;AK316519;AL035448;AL137756;AMYH02036707;AMYH02036708;BC093677;BC101527;BC109315;BC109316;CB961606;CH471133;DC314595;DC418438;DR759697;KF456826;NM_001282550;NM_001282551;NM_001282552;NM_001282554;NM_014962;NM_181443;XM_006723550;XM_006723551 AAH93677;AAI01528;AAI09316;AAI09317;BAA76796;BAG59039;BAG61298;BAG62107;BAH14627;BAH14890;CAB70908;EAX10327;EAX10328;NP_001269479;NP_001269480;NP_001269481;NP_001269483;NP_055777;NP_852108;Q9Y2F9;XP_006723613;XP_006723614 Hs.709366 1849983;2109095;2122459;2147151;2161831;2168743 A002V06;BTBD3__4280;D20S597E;RH46091;SGC38379;SHGC-31930 KIAA0952;MGC130038;MGC130039;dJ742J24.1 BTB/POZ domain-containing protein 3;OTTHUMP00000030288;OTTHUMP00000030289;OTTHUMP00000197601;OTTHUMP00000197603;OTTHUMP00000197605;OTTHUMP00000197606 protein-coding ENSG00000132640 HGNC:15854 12538 615566 VALIDATED 1347221 BTBD8 BTB (POZ) domain containing 8 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p22.1 90792299 90859815 + 92545862 92613397 + 92080305 92147840 + 6480464;8554872 12477932;14654994;15489334;18029348;20562859;21145461;23251661 284697 B4DKD6;Q5XKL5 ABBA01045552;ABBA01045553;ABBA01045554;AC104836;AK296516;AMYH02001477;AMYH02001478;AY346333;BC013922;CH471097;NM_183242 AAH13922;AAQ24383;BAG59148;EAW73102;EAW73103;EAW73104;NP_899065;Q5XKL5 Hs.676102 1692784;1773267;1848017 AL033751;G15734;SHGC-75148 BTB/POZ domain-containing protein 8;OTTHUMP00000011944;OTTHUMP00000011945;double BTB/POZ domain containing protein protein-coding ENSG00000189195 HGNC:21019 12542 VALIDATED 1344972 BTBD2 BTB (POZ) domain containing 2 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1919445 1949684 - 1985437 2015702 - 1985438 2015703 - 1580863;6480464;8554872 11179693;11818025;12477932;12782588;12878161;14702039;15057824;15231748;15489334;15761153;16169070;17543862;18305892;18775313;19295130;19615732;19995937;20368557;20610542;21092135;21139048;21145461;21890473;21900206;21906983;21988832;8125298;8619474;9110174 55643 K7EMW9;K7ENV9;Q9BX70 ABBA01002699;ABBA01002700;AC004678;AC005306;AF355797;AK000393;AK027481;AK056818;AK225831;AL360275;AMYH02035179;AMYH02035180;AMYH02035181;AMYH02035182;AMYH02035183;AY007116;BC000564;BC008035;BC053986;BC069199;BC094820;BU849231;CH471139;CR457230;NM_017797;XM_005259593 AAC16070;AAC26984;AAG45443;AAH00564;AAH08035;AAH53986;AAH69199;AAH94820;AAI52719;AAI56975;AAK25826;BAA91136;BAB55143;CAB96527;CAG33511;EAW69424;EAW69425;NP_060267;Q9BX70;XP_005259650 Hs.465543 1686094;1686592 RH93415;RH93682 BTB/POZ domain-containing protein 2 APPROVED protein-coding ENSG00000133243 HGNC:15504 12252 608531 REVIEWED 5135100 BTBD9-AS1 BTBD9 antisense RNA 1 6 38449372 38450303 + 100505567 XR_108642;XR_133425 APPROVED ncrna HGNC:40959 1315893 BTBD9 BTB (POZ) domain containing 9 This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011] 6 6 6 p21 39689759 40161407 - 38136227 38608202 - 38168451 38640426 - 1580863;6480464;8554872 11572484;12477932;14702039;16344560;17634447;17637780;18363860;19223043;19279021;19615732;19822783;20379614;21139048;21145461;21572129;21779176;21906983;21925394;22486183;22505724;22914617;23361623 114781 C9J8E4;C9JVC1;H7C5Z6;Q96Q07 AB067467;ABBA01038295;ABBA01038296;ABBA01038297;ABBA01038298;ABBA01038299;ABBA01038300;ABBA01038301;ABBA01038302;ABBA01038303;AK057507;AK090930;AK126242;AL031905;AL033518;AL079341;AL157476;AL355345;AL451162;AMYH02013580;AMYH02013581;AMYH02013582;AMYH02013583;AMYH02013584;BC035667;BC101354;BC101355;BC101356;BC101357;BX537534;CH471081;DA391209;DB095510;NG_016545;NM_001099272;NM_001172418;NM_052893;NM_152733;XM_005248841 AAI01355;AAI01356;AAI01358;BAB67773;BAB71514;BAC03550;EAX03959;EAX03960;EAX03961;NP_001092742;NP_001165889;NP_443125;NP_689946;Q96Q07;XP_005248898 Hs.603858 1340444;1649023;1649025;1655548;1661626;1661908;1693338;1694204;1701438;1704000;1705032;1732539;1751695;1752469;1775102;1777266;1855733;1856599;2126797;2131858;2161356;2165647;5020631 A005M39;AL034434;AL035196;D6Rat38;D6S1912;D6S2430;D6S389;D6S943;FB21E3;G20340;RH104351;RH16174;RH45619;RH46658;SHGC-105745;SHGC-106396;SHGC-77787;SHGC-78033;STS-AA019721;STS-R05478;STS-Z39767;WI-16237;WI-20491 FLJ32945;KIAA1880;MGC120517;MGC120519;MGC120520;dJ322I12.1 BTB/POZ domain-containing protein 9;OTTHUMP00000016336;OTTHUMP00000016338;OTTHUMP00000216692 APPROVED protein-coding ENSG00000183826 HGNC:21228 12543 611237 REVIEWED 5128907 BTF3L4P1 basic transcription factor 3-like 4 pseudogene 1 21 21 21 4065581 4066084 - 18889252 18891379 - 17516934 17519061 - 100505945 ABBA01057120;AMYH02037559;AP000963;NG_028972;NG_029458 transcription factor BTF3 homolog 4-like pseudo HGNC:39645 INFERRED 1313273 BTD biotinidase The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013] 3 3 3 p25 15581404 15625466 + 15642864 15689147 + 15601352 15647640 + 1580863;6480464;6907045;7240710;8554872;8699517 10206677;10655158;10737800;11668630;12359137;12477932;12618081;15489334;15776412;16335952;16341674;16502470;1679665;17185019;18479898;18645204;19728141;19757147;19806568;20224900;20301334;20301497;20532819;20539236;20549359;20556795;21378990;22911723;23314748;23481307;3930841;7509806;7550325;8001986;9099842;9396567;9530634;9654207 686 C9J387;C9JSN9;F8WCU5;P43251 ABBA01025137;ABBA01025138;AC027129;AC090950;AF018631;AI391654;AK294301;AK297033;AK301838;AK313252;AL573841;AMYH02006333;BC012099;BE814688;BE814713;BM565546;BM839350;BM919775;BP326502;CH471055;NG_008019;NM_000060;NM_001281723;NM_001281724;NM_001281725;NM_001281726;U03274;XM_005265417;XM_006713314;XM_006713315 AAC04318;AAC21679;AAH12099;BAG36062;BAG57582;BAG59561;BAH13565;EAW64254;EAW64255;EAW64256;NP_000051;NP_001268652;NP_001268653;NP_001268654;NP_001268655;P43251;XP_005265474;XP_006713377;XP_006713378 Hs.517830 1664988;1689849;1730387;1735254;1740031;1774635;2110285;2111384;2133217;2141658 BTD_8233;D17S1646E;D3S2760E;D3S2915E;D3S3311;D3S3496;D3S4178;RH91153;STS-U03274;WI-7349 OTTHUMP00000160300;OTTHUMP00000209134;OTTHUMP00000209135;OTTHUMP00000209138;biotinase APPROVED protein-coding ENSG00000169814 HGNC:1122 08359 253260;609019 REVIEWED 1317667 BTF3 basic transcription factor 3 This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] 5 5 5 q13.2 68689543 68696740 + 72794250 72801448 + 73498425 73505623 + 1580863;6480464 10094400;10982809;11329013;12477932;1386332;15489334;15492215;15716105;17312387;18025262;19460752;19615732;20000738;20016921;20972266;21139048;21832049;21890473;21906983;21963094;22053931;22505724;22863883;22939629;23000965;2320128;23363935;23532689;23901224;24250222;24386364;24816145;8047162;8125298 689 D6RDG3;H0Y9Y1;P20290 AB062126;ABBA01061918;AC099522;AK225964;AK291125;AK310919;AMYH02011562;BC008062;BC061913;BG182166;BT007120;BU661989;BX359147;BX537826;CH471084;M90352;M90357;NM_001037637;NM_001207;X53280;X74070 AAA58398;AAH08062;AAP35784;ABM83902;ABM87223;BAB93458;BAF83814;CAA37375;CAA52200;EAW95723;EAW95724;EAW95725;EAW95726;EAW95727;EAW95728;NP_001032726;NP_001198;P20290 Hs.591768 1848504;2115319;2179206;5019026 G42974;RH70088;STS-N23069;STS-N27423 BETA-NAC;BTF3a;BTF3b;NACB NAC-beta;OTTHUMP00000128196;OTTHUMP00000128197;OTTHUMP00000222431;RNA polymerase B transcription factor 3;nascent polypeptide-associated complex subunit beta;nascent-polypeptide-associated complex beta polypeptide;transcription factor BTF3 APPROVED protein-coding ENSG00000145741 HGNC:1125 03966 602542 REVIEWED 5128953 BTF3L4P4 basic transcription factor 3-like 4 pseudogene 4 4 4 4 q32.3 166849143 166849654 - 169519266 169519977 - 168598115 168598826 - 9847074 100506061 ABBA01070331;AC079926;AMYH02010473;NG_028949 pseudo HGNC:39648 INFERRED 1605903 BTF3L4 basic transcription factor 3-like 4 INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; cyclosporin A 1 1 1 p32.3 50809334 50841560 + 52521857 52556388 + 52056185 52090716 + 6480464 11181995;12477932;14702039;15489334;16344560;16710414;19322201;21139048;21890473;22053931;22505724;22863883;22939629;23000965;24816145 91408 E9PL10;E9PPC3;Q96K17 ABBA01074781;AK027582;AK027750;AL139156;AL445685;AL606761;AMYH02001008;AMYH02001009;AX882440;BC021004;BC022371;BC070378;BU567198;BU785869;CH471059;DA369498;NM_001136497;NM_001243767;NM_152265 AAH21004;AAH22371;AAH70378;ABZ92137;BAB55342;BAG51353;CAE91581;EAX06795;EAX06796;EAX06797;EAX06798;EAX06799;NP_001129969;NP_001230696;NP_689478;Q96K17 Hs.429839 1690362;1717905;1739957;2122958;2129428;5037552 D1S2194;D1S2523;D8S2279;RH122826;RH18833;RH93314 MGC23908;MGC88389;RP4-800M22.5 OTTHUMP00000010514;OTTHUMP00000231781;OTTHUMP00000231782;OTTHUMP00000231783;transcription factor BTF3 homolog 4;transcription factor BTF3-like protein-coding ENSG00000134717 HGNC:30547 17521 VALIDATED 1354341 BTF3P1 basic transcription factor 3, pseudogene 1 8 8 8 q11.23 48622062 48623852 - 52633816 52635606 - 51721256 51723046 - 1386332 693 ABBA01041691;AC090186;AMYH02017968;M90353;NG_001086 HUMBTFA pseudo HGNC:1129 INFERRED 736353 BTC betacellulin The protein encoded by this gene is a member of the EGF family of growth factors. It is synthesized primarily as a transmembrane precursor, which is then processed to mature molecule by proteolytic events. This protein is a ligand for the EGF receptor. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 72966514 73015096 - 75671448 75719882 - 74746238 74794672 - 1580863;1357906;2306978;2306966;2306973;2306965;2313774;2306967;2324625;2326087;2317963;6480464;6484113;6907045;8554872 10724350;11564606;12148846;14988244;15793259;15982853;16306376;16683131;18388935;19819964 10706134;10940639;11076863;11254912;11522793;12074582;12111392;12477932;12768307;15192046;15248827;15274392;15489334;15489336;15507448;15936459;16381901;16869959;17479438;17525275;17895248;17962208;18508082;19740107;20165885;20530572;22183345;24092824;24629040;7590736;8144591;8439318;8919026;9528863;9662041 685 H0Y8Q5;P35070 AB109441;AB109443;ABBA01063340;AC098825;AC116645;AC123887;AMYH02009486;BC011618;CH471057;NM_001729;S55606;XM_005263190 AAB25452;AAH11618;BAC76609;BAC76611;CAL37603;CAL37873;CAL38181;CAL38427;EAX05712;NP_001720;P35070;XP_005263247 Hs.710156 1731861;2134874;2154385 D4S1633E;SHGC-35798;SHGC-59577 OTTHUMP00000160600;OTTHUMP00000219057;probetacellulin APPROVED protein-coding HGNC:1121 02643 600345 REVIEWED 5552923 BTF3L4P3 basic transcription factor 3-like 4 pseudogene 3 6 6 6 q23.3 138605176 138688212 - 137864639 137865580 - 137543502 137544443 - 20190752 391040 ABBA01025818;AL023580;AMYH02014569;NG_030609 1715753;1721225;5094216 G54617;G59456;RH119323 pseudo HGNC:39647 INFERRED 5128906 BTF3L4P2 basic transcription factor 3-like 4 pseudogene 2 2 2 2 q24.2 153476913 153477981 + 159860162 159861230 + 159003650 159004718 + 11181995 653189 ABBA01004858;AC010093;AMYH02005065;NG_006120 BTF3L4P pseudo HGNC:39646 INFERRED 3340241 BTF3P14 basic transcription factor 3 pseudogene 14 17 17 17 p13.2 6246271 6247084 - 6225735 6226548 - 6322415 6323228 - 100132641 ABBA01054827;AC005668;AMYH02032870;NG_022441 2180232 D17S2125 pseudo HGNC:38571 INFERRED 4144714 BTF3P16 basic transcription factor 3 pseudogene 16 3 3 3 q12.3 99568118 99568979 - 101175829 101176690 - 101456985 101457846 - 643412 ABBA01061776;AC110994;AMYH02007315;NG_005360 pseudo HGNC:38568 INFERRED 1346870 BTF3P10 basic transcription factor 3 pseudogene 10 6 6 6 q25.1 151033587 151034418 + 150298962 150299825 + 149977826 149978689 + 11827464 345829 ABBA01025669;AL355497;AMYH02014699;NG_005361 RAET1J APPROVED pseudo HGNC:38570 INFERRED 1345867 BTF3P13 basic transcription factor 3 pseudogene 13 This locus defines a putative member of the BTF3 family of transcription factors and is thought to represent a pseudogene. [provided by RefSeq, Jul 2008] 4 4 4 q23 96956905 96957776 + 99661776 99662647 + 98740625 98741496 + 1580863 1386332 132556 ABBA01063660;AC114811;AMYH02009792;M90356;NG_006070 AAA58401 BTF3L3;HUMBTFD APPROVED pseudo HGNC:1128 603739 INFERRED 1344506 BTF3P11 basic transcription factor 3 pseudogene 11 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; disodium selenite 13 13 13 q22 58400594 58401233 + 77502585 77503224 + 76928451 76929090 + 1580863;6480464 12477932;1386332;18445777;9325059 690 ABBA01021659;AC000403;AMYH02028310;BC106717;BC106718;BC115358;CH471093;M90354;NR_026983 AAA58400;EAW80559 Hs.567241 1677742;5492555 RH76254;UniSTS:481612 BTF3L1;HUMBTFB;OCIF;OPG;TNFRSF11B APPROVED pseudo HGNC:1126 602543 PROVISIONAL 1344981 BTF3P2 basic transcription factor 3, pseudogene 2 14 14 14 q12 9007695 9008544 - 29142188 29143047 - 28672982 28673841 - 283631 ABBA01061375;AL121766;AMYH02028916;NG_002470 pseudo HGNC:19924 INFERRED 1347464 BTF3P12 basic transcription factor 3 pseudogene 12 This locus represents a putative member of the BTF3 family of transcription factors. With no transcription yet documented, it is thought that this locus represents a pseudogene. [provided by RefSeq] 8 8 8 q13.3 67183184 67184089 + 71185498 71186403 + 70273263 70274168 + 1580863;6480464 1386332 652963 ABBA01041939;AC021558;AMYH02018168;M90355;NG_005366 AAB04035 BTF3L2;HUMBTFC APPROVED pseudo HGNC:1127 603738 INFERRED 3028811 BTF3P15 basic transcription factor 3 pseudogene 15 10 10 10 q25.1 105032230 105032710 + 111294413 111294887 + 109534655 109535129 + 100130409 ABBA01063040;AL589948;AMYH02023787;NG_028759 pseudo HGNC:38567 INFERRED 5553009 BTF3P3 basic transcription factor 3, pseudogene 3 8 8 8 p21.3 21311643 21312512 + 22350013 22350888 + 22492500 22493375 + 652964 ABBA01005519;AC037459;AC087854;AMYH02017593;NG_005367 pseudo HGNC:31100 INFERRED 3498029 BTF3P4 basic transcription factor 3 pseudogene 4 9 9 9 q21.13 45295192 45296051 - 74722479 74723338 - 72107563 72108422 - 392350 ABBA01033851;AL583829;AMYH02020974;NG_005362 pseudo HGNC:38566 INFERRED 4109587 BTF3P6 basic transcription factor 3 pseudogene 6 21 21 21 q22.11 20090551 20091049 - 34890917 34891415 - 33518610 33519108 - 100499261 ABBA01057350;AMYH02037740;AP000303;NG_023442;NG_029160 1811444;1811930;2029126;2029128;2029130;2029132;2029134;2029136;2029138;2029140;2029142;2029144 ECD06721;ECD06969;REN85567;REN85568;REN85569;REN85570;REN85571;REN85572;REN85573;REN85574;REN85575;REN85576 pseudo HGNC:23765 INFERRED 3160708 BTF3P5 basic transcription factor 3 pseudogene 5 2 2 2 p16.1 55502437 55503260 - 55662032 55662855 - 55434896 55435719 - 652959 ABBA01075267;AC019198;AMYH02003852;NG_005363 pseudo HGNC:38565 INFERRED 3160707 BTF3P7 basic transcription factor 3 pseudogene 7 6 6 6 p25.1 8024624 8025469 - 6794889 6795734 - 6794656 6795501 - 652960 ABBA01022023;AL391535;AMYH02013051;NG_005364 pseudo HGNC:38569 INFERRED 3160706 BTF3P8 basic transcription factor 3 pseudogene 8 X X X q11.1 63333492 63334321 + 62986639 62987468 + 63766759 63767588 + 652961 ABBA01066821;AL451106;AMYH02039596;NG_005365;NG_016975 pseudo HGNC:38572 INFERRED 736072 BTG1 B-cell translocation gene 1, anti-proliferative This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008] 12 12 12 q22 92205336 92210955 - 92534054 92539673 - 92140278 92145897 - 2298943;6480464 16245302 10617598;11136725;11420681;11429045;11856371;12135500;12477932;1373383;14734530;15033446;15489334;15674337;16344560;18029348;18814951;19515430;20354172;20445134;2069907;21900206;21988832;22072402;22868968;22975506;22990118;23982470;24084718;24264312;24272202;24998463;8663146;9690562;9712883;9820826 694 F8W0U7;P62324;Q6IBC8 ABBA01053398;AC025164;AK307057;AK313309;AMYH02026923;AY850133;BC009050;BC016759;BC064953;BT019839;BT019840;BT019841;CH471054;CR456876;CR541782;DB042281;NM_001731;S38424;S38425;X61123 AAA08538;AAH16759;AAH64953;AAV38642;AAV38643;AAV38644;AAV97814;ABW03541;ABW03845;BAG36114;CAA43435;CAG33157;CAG46581;EAW97466;EAW97467;NP_001722;P62324 Hs.255935 1649373;1744005;1795224 BTG1_60;GDB:384770;RH45870 B-cell translocation gene 1 protein;OTTHUMP00000242800 APPROVED protein-coding ENSG00000133639 HGNC:1130 15912 109580 REVIEWED 2881281 BTF3P9 basic transcription factor 3 pseudogene 9 INTERACTS WITH cadmium atom 1 1 1 q42 200813009 200813549 + 227621767 227622307 + 227434066 227434606 + 6480464 12477932;21906983 503543 ABBA01009613;AL606462;AMYH02002828;BC062736;NG_004831 Hs.586511 5019026 G42974 pseudo HGNC:38573 INFERRED 733952 BTG3 BTG family, member 3 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 21 21 21 q21.1 4140718 4160017 - 18965968 18985268 - 17593650 17612950 - 1580863;6480464 10830953;10940556;11377414;11429045;12477932;15489334;16344560;16713569;17690688;18590053;19221000;20360068;21078624;21145461;21906983;21963094;22020331;23533280;23657964;23810394;9067576;9632145 10950 C9JLA2;Q14201;Q6IAU3 ABBA01057122;AF200465;AK289408;AL049332;AMYH02037562;AP000432;AP000967;BC011957;BC028229;BF110486;BT007276;CH471079;CR457061;D64110;DA381239;DR155504;NM_001130914;NM_006806;XM_006723963 AAF24345;AAH11957;AAP35940;ABM82261;ABW03379;BAA33788;BAF82097;CAG33342;EAX10026;EAX10027;EAX10028;EAX10029;NP_001124386;NP_006797;Q14201;XP_006724026 Hs.473420 1686664;1688654;1784486;1795450 BTG3_1548;RH45478;RH79886;SHGC-172493 ANA;MGC8928;TOB5;TOB55;TOFA B-cell translocation gene 3;OTTHUMP00000083229;OTTHUMP00000083230;abundant in neuroepithelium area protein APPROVED protein-coding ENSG00000154640 HGNC:1132 10415 605674 REVIEWED 1318793 BTG4 B-cell translocation gene 4 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008] 11 11 11 q23 108491434 108536253 - 111338255 111383105 - 111467530 111512380 - 1580863;6480464 10995567;11267995;11429045;12477932;15672409;16709802;18519671;19576178;20309940 54766 E9PRM5;Q9NY30 ABBA01039819;ABBA01039820;AJ271351;AMYH02025573;AP002008;BC031045;BX099301;CH471065;HC006790;HC044731;NM_017589;XM_005271601;XM_005271602;XM_006718862;XM_006718863;XM_006718864 AAH31045;ABM81904;ABM84644;CAB69821;CBH19201;CBH30695;EAW67140;NP_060059;Q9NY30;XP_005271658;XP_005271659;XP_006718925;XP_006718926;XP_006718927 Hs.128180;Hs.734027 1646835 D11S1137 MGC33003;PC3B BTG family member 4;OTTHUMP00000234045 APPROVED protein-coding ENSG00000137707 HGNC:13862 16138 605673 REVIEWED 69157 BTG2 BTG family, member 2 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. [provided by RefSeq, Jul 2008] 1 1 1 q32 176403938 176408003 + 203274664 203278730 + 203305536 203309602 + 1580863;2289074;2289078;2289068;2289069;2289070;2289075;2289081;6480464 11470758;12909328;14697320;14996721;16849553;7684483;9712737 10200315;10341341;10617598;10669755;11136725;11237868;11267995;11377414;11429045;11814693;11856371;11930152;11989967;12135500;12360398;12477932;12771185;15056715;15378000;15489334;15542835;15741235;15788397;16418486;16710414;16782888;16997058;1713584;17353931;17371797;18029348;18196550;18288394;18337750;18393292;18773938;18840609;18854154;18974182;19056867;19117054;19203451;19468252;19546886;19615363;19728149;20020054;20398657;20553615;20569234;21120602;21172304;21173166;22266859;22392501;22493435;22562501;22614007;22975506;23089312;23299537;23857284;23907596;24047462;24308156;24440351;24698107;24821435;8663146;8891336;8944033;9712883;9828097 7832 P78543 ABBA01027483;AF361937;AL513326;AMYH02002513;BC105948;BC105949;CH471067;NM_006763;U72649;Y09943 AAB37580;AAI05949;AAI05950;AAL05626;ABZ92453;CAA71074;EAW91475;EAW91476;NP_006754;P78543 Hs.519162 1795448;2179801 BTG2_75;SHGC-4213 MGC126063;MGC126064;PC3;TIS21 B-cell translocation gene 2;NGF-inducible anti-proliferative protein PC3;OTTHUMP00000033982;b-cell translocation gene 2, anti-proliferative;nerve growth factor-inducible anti-proliferative;pheochromacytoma cell-3;protein BTG2 APPROVED protein-coding ENSG00000159388 HGNC:1131 03357 601597 REVIEWED 1350737 BTLA B and T lymphocyte associated This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011] 3 3 3 q13.2 110591487 110627086 - 112182813 112218438 - 112463966 112499590 - 1580863;6480464 10737800;12477932;12796776;14652006;14702039;15489334;15568026;15647361;16131544;16169851;16643847;16932752;17024343;17257317;19155498;19207938;19585237;19762537;19915044;20066438;20331378;20693422;21403914;21592997;21920726;21959263;21982860;22179929;22205715;22459947;22634623;22691359;22903545;23375291;23692853;24909289 151888 Q400G7;Q7Z6A9 AA828425;ABBA01061663;ABBA01061664;AC092894;AI792952;AJ717664;AK131204;AK292692;AMYH02007442;AW294080;AY293286;AY599411;AY606805;BC107091;BC107092;BE832323;CD702861;DQ198368;NM_001085357;NM_181780;XM_005247136 AAI07092;AAI07093;AAP44003;AAT44901;AAV41229;ABA54407;BAD18396;BAF85381;CAG30680;NP_001078826;NP_861445;Q7Z6A9;XP_005247193 Hs.445162 2164471 AFMC026XC9 BTLA1;CD272;FLJ16065;MGC129743 B and T lymphocyte attenuator;B- and T-lymphocyte attenuator;B- and T-lymphocyte-associated protein;OTTHUMP00000214514;OTTHUMP00000214515 APPROVED protein-coding ENSG00000186265 HGNC:21087 06392 607925 VALIDATED 1315909 BTN1A1 butyrophilin, subfamily 1, member A1 Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27730812 27739977 + 26500577 26510653 + 26500349 26510425 + 1580863;6480464;8554872 10376248;10429365;11170752;12456835;12477932;14574404;15489334;16498413;16502470;19084217;19531472;19596235;21915327;23722424;24999993;6830779;7775382;8114113;8132890;8611614;9382921 696 Q13410;Q4VAN1;Q4VAN2 AA768577;ABBA01066556;AL121936;AMYH02013351;AW977526;BC096312;BC096313;BC096314;BC096315;CH471087;NM_001732;U39576;XM_005249340;XM_005249341 AAC50489;AAH96312;AAH96313;AAH96314;AAH96315;EAW55585;NP_001723;Q13410;XP_005249397;XP_005249398 Hs.153058 1681933;1683497;2106453;2173140 BTN1A1_4475;D6S2360;RH80832;RH91955 BT;BTN;BTN1 OTTHUMP00000017981;bK14H9.2 (butyrophilin, subfamily 1, member A1);butyrophilin subfamily 1 member A1 APPROVED protein-coding ENSG00000124557 HGNC:1135 03365 601610 VALIDATED 3231910 BTG1P1 B-cell translocation gene 1 pseudogene 1 12 12 12 p13.31 10824633 10825308 + 9287518 9288193 + 9134922 9135597 + 100129641 ABBA01012257;AC007436;AMYH02025998;NG_016577 pseudo HGNC:37692 INFERRED 1353022 BTN2A1 butyrophilin, subfamily 2, member A1 This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 6 6 6 p22.1 27687469 27699163 + 26458132 26476849 + 26457904 26476621 + 6480464;8554872 11170752;12477932;14574404;14702039;16344560;17207965;17785817;21139048;21211798;21347509;21468600;21525964;21557786;21672009;21784758;21890473;22576629;24452779;24816145;9149941;9382921 11120 C9JNC3;H7BYC3;H7C542;Q7KYR7 AB209777;ABBA01066556;AK093886;AK297098;AL050330;AL121936;AMYH02013351;AW007668;BC016661;BX452202;BX538050;CH471087;DB265775;DC341201;DC348937;DC414685;HY157783;NM_001197233;NM_001197234;NM_007049;NM_078476;U90142;U90543;U97495;U97496;U97497 AAB53421;AAC02650;AAC02653;AAC02654;AAH16661;ADQ31707;BAD93014;BAG59611;CAD97989;EAW55577;EAW55578;EAW55579;EAW55580;EAW55581;EAW55582;NP_001184162;NP_001184163;NP_008980;NP_510961;Q7KYR7 Hs.159028 1665142;1687029;1846668;5015861;5037552;7185938 D10S16;D6S1239E;D8S2279;RH26411;RH46612 BK14H9.1;BT2.1;BTF1;BTN2.1;DJ3E1.1;FLJ36567 OTTHUMP00000016170;OTTHUMP00000214571;OTTHUMP00000214572;butyrophilin BTF1;butyrophilin subfamily 2 member A1 APPROVED protein-coding ENSG00000112763 HGNC:1136 12544 613590 REVIEWED 1343392 BTNL1 butyrophilin-like 1 10803852;8114113 697 HGNC:1141 1315891 BTN2A2 butyrophilin, subfamily 2, member A2 Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 6 6 6 p22.1 27612635 27624383 + 26383111 26395102 + 26382870 26394874 + 6480464;8554872 10354554;11170752;12124930;12477932;14574404;14702039;15342556;15489334;19571809;21906983;9149941 10385 C9IY66;C9IZY2;C9J8J5;C9J8R3;C9JAJ6;C9JWH2;F8WC65;H7C4E8;Q8WVV5 ABBA01066555;AK123902;AK289883;AK293526;AK298570;AK304744;AL021917;AL832800;AMYH02013351;BC013258;BC014021;BC017497;BI754184;BP234194;CH471087;DC373063;DC388932;NM_001197237;NM_001197238;NM_001197239;NM_001197240;NM_006995;NM_181531;U90550;XM_005248797;XM_005248798;XM_006714953;XM_006714954;XM_006714955;XM_006714956 AAB53428;AAH14021;AAH17497;BAF82572;BAG57008;BAG60763;BAG65503;EAW55561;EAW55562;EAW55563;EAW55564;EAW55565;NP_001184166;NP_001184167;NP_001184168;NP_001184169;NP_008926;NP_853509;Q8WVV5;XP_005248854;XP_005248855;XP_006715016;XP_006715017;XP_006715018;XP_006715019 Hs.373938 1855129;2126479;2142639 NIB885;RH15843;RH18496 BT2.2;BTF2;BTN2.2;FLJ41908 OTTHUMP00000016167;OTTHUMP00000214441;OTTHUMP00000214442;OTTHUMP00000214443;OTTHUMP00000214444;OTTHUMP00000214445;OTTHUMP00000214447;butyrophilin 2;butyrophilin subfamily 2 member A2 APPROVED protein-coding ENSG00000124508 HGNC:1137 12545 613591 REVIEWED 1346267 BTN3A2 butyrophilin, subfamily 3, member A2 This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 6 6 6 p22.1 27594686 27607836 + 26365387 26378548 + 26365159 26378320 + 1580863;6480464 11170752;12124930;12477932;14574404;14702039;15489334;19204726;19295542;19571809;19946888;21113407;21906983;21918970;21963094;22505724;22685580;22767497;22846996;22966150;9149941;9382921 11118 A8K4B5;E9PIU5;E9PJE9;E9PRR1;E9PRX1;P78410;S4R3N0 ABBA01066555;AF257505;AK097330;AK290880;AK299417;AK303600;AK312847;AL021917;AMYH02013351;BC002832;BC020214;BC067086;CD686792;CD705662;CH471087;NM_001197246;NM_001197247;NM_001197248;NM_001197249;NM_007047;U90143;U90144;U90546;U97499;U97502;XM_005248827;XM_005248831;XM_005248832;XM_006714979;XM_006714980;XM_006714981;XM_006714982 AAB53424;AAC02651;AAC02652;AAC02655;AAC02656;AAF76140;AAH02832;AAH20214;BAF83569;BAG35700;BAG61399;BAG64615;EAW55557;EAW55558;EAW55559;EAW55560;NP_001184175;NP_001184176;NP_001184177;NP_001184178;NP_008978;P78410;XP_005248884;XP_005248888;XP_005248889;XP_006715042;XP_006715043;XP_006715044;XP_006715045 Hs.376046 1721677;1771764;1771790;1775008;2109099;2140608;2140641;5022200;5022651;5037552;5106902 BTN3A2_9221;D11S2921;D6S2361;D6S2366;D8S2279;G59850;L18426;RH15842;WI-14381;WI-18313;WIAF-1460 BT3.2;BT3.3;BTF4;BTN3.2;CD277;FLJ40011 OTTHUMP00000016164;OTTHUMP00000016165;OTTHUMP00000195579;OTTHUMP00000232115;butyrophilin protein;butyrophilin subfamily 3 member A2 APPROVED protein-coding ENSG00000186470 HGNC:1139 12547 613594 REVIEWED 1349753 BTN3A3 butyrophilin, subfamily 3, member A3 The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] 6 6 6 p21.3 27669980 27682923 + 26440700 26453643 + 26440472 26453415 + 1580863;6480464;8554872 10354554;11170752;12477932;14574404;15340161;15489334;16344560;19946888;20208008;21906983;21963094;21988832;22505724;8125298;9149941 10384 C9J3Q8;C9J877;C9JNZ3;C9JQT8;C9JUV8;C9JVU4;C9JZT5;O00478 AB209581;ABBA01066556;AK223279;AK223301;AK291722;AK301553;AL021917;AMYH02013351;BC015815;BT007251;BX341863;CH471087;DA445999;DC410234;KM244652;NM_001242803;NM_006994;NM_197974;U90548 AAB53426;AAH15815;AAP35915;ABM83522;ABW03508;AIP98384;BAD92818;BAD96999;BAD97021;BAF84411;BAG63049;EAW55572;EAW55573;EAW55574;EAW55575;EAW55576;NP_001229732;NP_008925;NP_932078;O00478 Hs.167741 1789605;2108711;2109099;2140641;2189675;5106902 BTN3A2_9221;BTN3A3_9097;D6S2231;D6S2361;JA05;WI-14381 BTF3;BTN3.3 OTTHUMP00000016166;OTTHUMP00000214539;OTTHUMP00000214557;butyrophilin 3;butyrophilin subfamily 3 member A3;butyrophilin subfamily 3 member A3 secreted isoform APPROVED protein-coding ENSG00000111801 HGNC:1140 12548 613595 VALIDATED 1345080 BTNL5 butyrophilin-like 5 444890 HGNC:17414 6480792 BTNL10 butyrophilin-like 10 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); cyclosporin A (ortholog); hydrazine (ortholog) 1 1 1 q42.13 201886155 201889466 - 228698060 228699699 - 228510359 228512288 - 6480464 100129094 A8MVZ5 ABBA01005838;AL139288;AMYH02002847;CH471098;DY654633;NM_001287262 A8MVZ5;EAW69883;NP_001274191 Hs.730208 1698098 RH102581 BTN4;BUTR1 butyrophilin related 1;butyrophilin-like protein 10;similar to hCG2036765 protein-coding HGNC:42540 VALIDATED 1348046 BTNL4 butyrophilin-like 4 444889 HGNC:17413 1346357 BTN2A3P butyrophilin, subfamily 2, member A3, pseudogene The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A3) and BTN3 (e.g., BNT3A1; MIM 613593) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] 6 6 6 p22.1 27650899 27660096 + 26421619 26430816 + 26421391 26430588 + 1580863;6480464;8554872 11170752;12477932;14574404;14702039;16344560;20208008;20467438 54718 Q96KV6;Q96MJ0 ABBA01066556;AK056871;AK292658;AL021917;AMYH02013351;BC143636;CH471087;DA706324;DB133005;NR_027795 AAI66633;BAB71298;BAF85347;CAC69644;EAW55569;EAW55570;EAW55571;Q96KV6 Hs.729655 2172853;5015961 D15S1477;D6S2365 BTN2.3;BTN2A3 APPROVED pseudo ENSG00000124549 HGNC:13229 12546 613592 VALIDATED 1342660 BTK Bruton agammaglobulinemia tyrosine kinase The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] X X X q21.33-q22 101123894 101160669 - 100604435 100641212 - 101349447 101390796 - 1600526;1580863;5131492;6480464;6484113;6907045;7240710;8554872;8699517 15380937;8162018 10068673;10196129;10201980;10220140;10339589;10373551;10427990;10498607;10556826;10561498;10612838;10826882;10872802;10981967;11163197;11226282;11231015;11313464;11329620;11373296;11375929;11413148;11431473;11434777;11438999;11507089;11524430;11527964;11577348;11598012;11665629;11668622;11698416;11742120;11751885;11788586;11877742;11913944;11920564;11934902;12001708;12093870;12204007;12235133;12405164;12437073;12445832;12477932;12573241;12679936;12724322;12768435;12769846;12810683;12854903;12970174;14614850;14623887;14634110;14702039;14974089;15007095;15046600;15082835;15087455;15096481;15184383;15203319;15355990;15375214;15466623;15489334;15539407;15712380;15772651;15849198;15894173;15939795;16141323;16159644;16300960;16344560;16415872;16439361;16517732;16640565;16751014;16951917;16964398;16969585;17264076;17290227;17707910;17765309;17823121;17932028;18022864;18029348;18051214;18067320;18241233;18548107;18596081;18726917;18776760;18809383;19017959;19039656;1915549;19206206;19212330;19290921;19342689;19380743;19464057;19471023;19807924;19859091;19904586;19913121;19949111;19953087;20052711;20056178;20301626;20574453;20628086;20634142;20715177;20936779;21039741;21080425;21422473;21482705;21622861;21659545;21784852;21822214;21832049;21890473;21906983;21988832;21991724;22053596;22312945;22366891;22378381;22527282;22589540;22623531;22689860;22745667;22939624;23239500;23581641;23754751;23913792;23967355;23977012;24307721;24307874;24311722;24375473;24383975;24510558;24612681;24658273;24722985;24869598;2881637;7522330;7626884;7627183;7629518;7633420;7633429;7711734;7809124;7849006;7849697;7849721;7880320;7897635;7907259;7925280;7927535;7959728;7972043;8013627;8058772;8090769;8125298;8162056;8258324;8283037;8380905;8425221;8594569;8617237;8629002;8630736;8634718;8688094;8695804;8723128;8758136;8834236;8892607;9012831;9016530;9110171;9178903;9201297;9218782;9260159;9280283;9333013;9408950;9445504;9485443;9545398;9571151;9742969;9751072;9770463;9796816;9837922 695 Q06187;Q5JY90 ABBA01044974;ABBA01044975;ABBA01044976;ABBA01044977;ABBA01044978;AF153364;AF153755;AF153756;AF153757;AF153758;AF153759;AF153760;AF153761;AF153762;AF153763;AF153764;AJ888376;AJ888377;AJ888378;AJ888380;AJ888381;AK057105;AK225577;AK309851;AK314382;AL035422;AM051275;AM051276;AM051277;AM051278;AM051279;AM051280;AM051281;AM051282;AM051283;AM051284;AM051285;AM051286;AMYH02040066;AU107296;AV733045;BC109079;BC109080;CH471115;DA619542;DB331677;DB636737;KF241986;L31572;NG_009616;NM_000061;NM_001287344;NM_001287345;U10087;U13433;U78027;X58957 AAA61479;AAB60639;AAB64205;AAC51347;AAF37332;AAF37333;AAF37334;AAF37335;AAF37336;AAF37337;AAF37338;AAF37339;AAF37340;AAF37341;AAF61477;AAI09080;AAI09081;AGW32074;BAG37008;BAG51864;CAA41728;CAI59836;CAI59837;CAI59839;CAI59840;CAI59842;CAJ19681;CAJ19682;CAJ19683;CAJ19684;CAJ19685;CAJ19686;CAJ19687;CAJ19688;CAJ19689;CAJ19690;CAJ19691;CAJ19692;EAX02856;EAX02857;EAX02858;NP_000052;NP_001274273;NP_001274274;Q06187 Hs.159494;Hs.733206 1655766;1664319;1676150;1678075;1694920;1701868;1702402;1745413;2106451;2154659;2220306;5016482;5117456;7184725 BTK;BTK_4321;DXS178;DXS7424;G44349;GDB:376892;GDB:555566;GDB:555569;GDB:607597;RH35738;RH70553;RH70566;RH80171;RH93533 AGMX1;AT;ATK;BPK;IMD1;MGC126261;MGC126262;PSCTK1;XLA B-cell progenitor kinase;OTTHUMP00000023676;OTTHUMP00000023677;agammaglobulinaemia tyrosine kinase;dominant-negative kinase-deficient Brutons tyrosine kinase;truncated Bruton agammaglobulinemia tyrosine kinase;tyrosine-protein kinase BTK;tyrosine-protein kinase BTK isoform (lacking exon 14) APPROVED protein-coding ENSG00000010671 HGNC:1133 02248 300300;300755;307200 REVIEWED 1344541 BTNL6 butyrophilin-like 6 444891 HGNC:17415 1347001 BTNL7 butyrophilin-like 7 444892 HGNC:19413 1346965 BTN3A1 butyrophilin, subfamily 3, member A1 The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] 6 6 6 p22.1 27631745 27644724 + 26402465 26415444 + 26402237 26415216 + 1580863;6480464;8554872 11170752;12477932;14574404;15489334;16344560;16712791;19571809;20208008;21113407;21906983;21918970;21963094;21982860;22505724;22767497;22846996;23872678;24703779;8125298;9149941;9382921 11119 A6PVC0;A8K547;E7EPR2;E9PFB8;O00481 AA977088;ABBA01066556;AK223474;AK290193;AK291162;AK295720;AK298652;AK299327;AK311233;AL021917;AMYH02013351;BC065567;BC118586;BC121800;BG744194;BM147268;BM542639;BU178206;BU617041;CA309315;CB148209;CD110416;CH471087;DA044176;DC417480;KF458128;NM_001145008;NM_001145009;NM_007048;NM_194441;T86577;U90552;XM_005248833;XM_005248834;XM_006714983;Y07827 AAB53430;AAI18587;AAI21801;BAD97194;BAF82882;BAF83851;BAG58563;BAG60824;BAG61334;CAA69164;EAW55566;EAW55567;NP_001138480;NP_001138481;NP_008979;NP_919423;O00481;XP_005248890;XP_005248891;XP_006715046 Hs.191510 1771764;1854871;2145189;2159482;5106902 D6S2363;RH37463;STS-H72375;WI-14381;WI-18313 BT3.1;BTF5;BTN3.1;CD277;MGC141880 OTTHUMP00000016163;OTTHUMP00000164619;OTTHUMP00000222000;OTTHUMP00000222001;butyrophilin subfamily 3 member A1;dJ45P21.3 (butyrophilin, subfamily 3, member A1) APPROVED protein-coding ENSG00000026950 HGNC:1138 10693 613593 VALIDATED 1350246 BTNL3 butyrophilin-like 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH lead diacetate (ortholog); paracetamol (ortholog); pregnenolone 16alpha-carbonitrile (ortholog) 5 5 5 q35.3 176039572 176057449 + 180415845 180433727 + 180988845 181006727 + 6480464;8554872 10429365;12477932;12975309;16344560 10917 Q6UXE8 AB020625;ABBA01010087;AC091874;AK025267;AMYH02012915;AY358385;BC100800;BC100801;BC100802;CH471165;DA431389;NM_197975;XM_005265801 AAI00801;AAI00802;AAI00803;AAQ88751;BAA76664;EAW53729;EAW53730;NP_932079;Q6UXE8;XP_005265858 Hs.225949 1785324 SHGC-111734 BTN9.1;BTNLR OTTHUMP00000221218;butyrophilin-like protein 3;butyrophilin-like receptor protein-coding ENSG00000168903 HGNC:1143 08393 606192 VALIDATED 1353557 BTNL2 butyrophilin-like 2 (MHC class II associated) ENCODES a protein that exhibits receptor binding (inferred); INVOLVED IN negative regulation of T cell receptor signaling pathway (inferred); positive regulation of interleukin-2 secretion (inferred); positive regulation of T cell proliferation (inferred); ASSOCIATED WITH Melanoma (inferred); Sarcoidosis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; nickel atom (ortholog) 6 6 6 p21.3 33929258 33941628 - 32362513 32374900 - 32394736 32407123 - 6480464;7240710;8554872 10803852;12477932;15516930;15735647;16080124;16321988;16690410;16984233;17170388;17237401;17347014;17493147;17610417;17661910;17927685;18836448;18987644;19050377;19116923;19122664;19140834;19143814;19287509;19659809;19760754;19851445;19861958;19882345;19915573;19936222;20041166;20176143;20237496;20305777;20378664;20410501;20453000;20560297;20587610;20691797;21072187;21256912;21297633;21326295;21410903;21804548;21853121;21906983;22071774;22751097;22797724;22936702;22991420;23017494;23028341;23028483;23321320;23364395;23472185;23535732;23833122;23850713;23904553;24282030 56244 F6UPS5;F8WBA1;F8WDK6;Q9UIR0 ABBA01038110;ABBA01038111;AC226007;AF186588;AF186590;AF186593;AL034394;AL662796;AL670296;AL935032;AMYH02013472;AY684332;AY684333;AY881999;BC119668;BC127641;BC127642;BX255945;BX908732;CH471081;CR752644;CR753634;CR759773;CR759917;CU019529;NM_019602;XM_006726138;Z84814 AAF05530;AAI19669;AAI27642;AAI27643;AAV91022;AAV91023;AAX35330;AAX35331;CAC69895;CAI42177;CAI42180;EAX03627;EAX03628;NP_062548;Q9UIR0;XP_006726201 Hs.534471 BTL-II;BTN7;HSBLMHC1;SS2 OTTHUMP00000194895;OTTHUMP00000215336;butyrophilin-like protein 2 protein-coding ENSG00000204290 HGNC:1142 12077 606000;612387 PROVISIONAL 1349027 BTS1 bladder tumor susceptibility 1 619606 9310135 698 HGNC:1147 1351143 BTNL8 butyrophilin-like 8 INVOLVED IN immune system process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 5 5 5 q35.3 175949998 176001633 + 180326077 180377906 + 180899077 180950906 + 6480464;8554872 12477932;12975309;14702039;15340161;16344560;21982860;24036152;8125298 79908 D6R9I8;D6RIR7;Q6UX41 ABBA01010087;AC022413;AC091874;AK025111;AK225213;AK296597;AK298687;AK308012;AK309639;AMYH02012914;AY358523;BC119696;BC119697;CH471165;DA425770;NM_001040462;NM_001159707;NM_001159708;NM_001159709;NM_001159710;NM_024850;XM_006714919 AAI19697;AAQ88887;BAB15069;BAH12395;BAH12847;EAW53732;EAW53733;NP_001035552;NP_001153179;NP_001153180;NP_001153181;NP_001153182;NP_079126;Q6UX41;XP_006714982 Hs.189109 1335325;2166457 D5S2006;D5S2724 BTN9.2;FLJ21458;FLJ51528;MGC149619 B7-H5 costimulatory molecule;OTTHUMP00000161540;OTTHUMP00000221844;OTTHUMP00000221845;OTTHUMP00000221846;OTTHUMP00000221847;OTTHUMP00000221848;butyrophilin-like protein 8 protein-coding ENSG00000113303 HGNC:26131 12549 615606 VALIDATED 1353775 BTNL9 butyrophilin-like 9 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; progesterone; paracetamol (ortholog) 5 5 5 q35.3 176091046 176116223 + 180467203 180488523 + 181040205 181061523 + 6480464;8554872 12477932;12975309;14702039;15489334 153579 B7Z4Y8;Q6UXG8;Q8N324 ABBA01010089;ABBA01010090;AC008620;AC091874;AK057097;AK298113;AL833663;AMYH02012915;AY358358;BC029040;BC042112;BC062459;CH471165;CQ789638;DC379841;NM_152547;XM_005265824;XM_006714823;XM_006714824;XM_006714825 AAH29040;AAH42112;AAH62459;AAQ88724;BAB71365;BAH12724;CAG24379;EAW53724;EAW53725;EAW53726;EAW53727;EAW53728;NP_689760;Q6UXG8;XP_005265881;XP_006714886;XP_006714887;XP_006714888 Hs.546502 1728531;1735442;1847962;2133507;2146108;2165881;5037552 D5S1574E;D8S2279;G63703;RH41950;RH46520;SHGC-64030;STS-T47960 BTN3;BTN8;VDLS1900 OTTHUMP00000082750;OTTHUMP00000082751;butyrophilin 3;butyrophilin-like protein 9 protein-coding ENSG00000165810 HGNC:24176 12550 VALIDATED 7829263 BUB1P1 BUB1 mitotic checkpoint serine/threonine kinase pseudogene 1 10 10 10 123337663 123338367 + 129666182 129666886 + 127867918 127868622 + 100422363 ABBA01009091;AL157393;AMYH02024021;NG_025548 pseudo HGNC:49529 INFERRED 1606207 BUD13 BUD13 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA export from nucleus (ortholog); mRNA splicing, via spliceosome (ortholog); FOUND IN nucleus; RES complex (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 11 11 11 q23.3 113774294 113799111 - 116618886 116643714 - 116748170 116772998 - 6480464 12477932;15302935;15565172;16344560;18193044;18193046;19010793;19656773;20360068;20442857;20571754;20838585;20864672;21160409;21182205;21386085;21729881;21909109;22365833;22437554;23505323;24023261;24816145;8125298;8889548 84811 H7C462;Q9BRD0 ABBA01039748;AK057832;AK130600;AK225164;AK289635;AK291111;AK311068;AMYH02025621;AP006216;BC006350;BU731866;CA432582;CH471065;DA042987;NM_001159736;NM_032725;XR_428982 AAH06350;ABM83689;ABM86992;BAB71593;BAF82324;BAF83800;EAW67265;EAW67266;NP_001153208;NP_116114;Q9BRD0 Hs.437341 1644255;1799122;1800044;1802170;1806398;1818486;1818928;1819100;1822632;1822780;1825034;1825116;1829756;1832110;1838136;1840100;1841252;1845566;2004504;2004506;2004508;2004510;2004512;2004514;2004516;2004518;2004520;2004522;2004524;2004526;2004528;2004530;2004532;2004534;2004536;2004538;2004540;2004542;2004544;2004546;2004548;2004550;2004552;2004554;2004556;2004558;2004560;2004562;2004564;2004566;2004568;2004570;2004572;2004574;2004576;2004578;2004580;2004582;2004584;2004586;2004588;2004590;2004592;2004594;2004596;2004598;2004600;2004602;2004604;2004606;2004608;2004610;2004612;2004614;2004616;2004618;2004620;2004622;2004624;2004626;2004628;2004630;2004632;2004634;2004636;2004638;2004640;2004642;2004644;2004646;2004648;2004650;2004652;2004654;2004656;2004658;2004660;2004662;2004664;2004666;2004668;2004670;2004672;2004674;2004676;2004678;2004680;2004682;2004684;2004686;2004688;2004690;2096850;2096852;2096854;2096856;2096858;2096860;2096862;2096864;2096866;2096868;2096870;2096872;2096874;2096876;2096878;2096880;2096882;2096884;2096886;2096888;2096890;2127449;5093972 A009Z45;ECD00407;ECD00877;ECD01967;ECD04155;ECD10304;ECD10528;ECD10616;ECD12404;ECD12478;ECD13616;ECD13659;ECD16010;ECD17193;ECD20240;ECD21234;ECD21822;ECD24001;G33031;REN73164;REN73165;REN73166;REN73167;REN73168;REN73169;REN73170;REN73171;REN73172;REN73173;REN73174;REN73175;REN73176;REN73177;REN73178;REN73179;REN73180;REN73181;REN73182;REN73183;REN73184;REN73185;REN73186;REN73187;REN73188;REN73189;REN73190;REN73191;REN73192;REN73193;REN73194;REN73195;REN73196;REN73197;REN73198;REN73199;REN73200;REN73201;REN73202;REN73203;REN73204;REN73205;REN73206;REN73207;REN73208;REN73209;REN73210;REN73211;REN73212;REN73213;REN73214;REN73215;REN73216;REN73217;REN73218;REN73219;REN73220;REN73221;REN73222;REN73223;REN73224;REN73225;REN73226;REN73227;REN73228;REN73229;REN73230;REN73231;REN73232;REN73233;REN73234;REN73235;REN73236;REN73237;REN73238;REN73239;REN73240;REN73241;REN73242;REN73243;REN73244;REN73245;REN73246;REN73247;REN73248;REN73249;REN73250;REN73251;REN73252;REN73253;REN73254;REN73255;REN73256;REN73257;WI-18293;stSG601742;stSG601743;stSG601744;stSG601745;stSG601746;stSG601747;stSG601748;stSG601749;stSG601750;stSG601751;stSG601752;stSG601753;stSG601754;stSG601755;stSG601756;stSG601757;stSG601758;stSG601759;stSG601760;stSG601761;stSG601762 Cwc26;FLJ27090;MGC13125;fSAP71 BUD13 homolog;OTTHUMP00000042639;OTTHUMP00000042640;functional spliceosome-associated protein 71 protein-coding ENSG00000137656 HGNC:28199 11307 VALIDATED 1347748 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012] 10 10 10 q24.32 96852547 97055847 + 103113790 103317078 + 101354033 101557321 + 1580863;2293188;5510026;6480464;6907045;5490225 18432252;20635334;21135871 10023660;10066435;10072378;10074433;10075690;10213692;10228155;10331953;10514424;10514433;10531035;10564661;10644755;10713156;10803460;10828603;10835356;10918611;10983987;11001584;11027288;11158290;11238952;11278695;11359933;11483504;11696595;11818547;11850407;11953428;11994270;12037680;12077367;12114015;12124804;12151397;12417018;12477932;12482991;12504025;12609982;12684064;12791267;12820959;12902344;14516475;14526201;14561767;14603323;14673179;14674748;14676825;14681206;14706645;14743216;14752276;14988407;15070733;15140882;15314162;15340078;15448698;15469984;15485837;15489334;15647282;15735746;15743413;15782160;15798217;15845771;15855639;15917222;15927956;15966899;16165251;16189514;16196087;16219772;16275325;16278670;16303288;16338364;16344560;16354571;16371461;16385451;16651270;16691619;16705181;16757476;16778892;16798748;16865698;16885021;16885022;17053147;17079684;17121803;17213322;17215248;17217622;17283138;17295679;17318178;17319651;17327410;17387146;17445772;17463251;17491012;17500058;17510365;17586316;17676996;17937819;17939994;17965458;18052253;18056411;18296647;18316598;18354482;18354483;18363964;18372914;18378770;18460583;18521620;18541215;18575781;18617892;18650423;18662541;18672082;18765672;18794143;18851830;19053519;19061640;19106159;19150432;19159283;19196987;19240029;19240121;19244337;19297328;19372209;19411070;19477924;19478868;19515779;19557001;19615732;19647520;19656241;19730691;19797085;19822658;19931512;19933270;19944437;19955572;19966869;20048001;20068069;20102634;20140206;20201792;20348946;20353940;20378537;20379614;20442859;20503246;20516151;20531388;20558726;20625400;20638939;20708156;20736409;20797629;20844743;20852628;20858893;20980512;21051950;21070969;21138764;21139048;21145461;21173164;21189257;21249194;21310048;21402774;21430439;21454620;21466614;21521785;21572392;21807946;21900206;21910689;21946088;21987572;21988832;22017875;22017876;22017877;22022389;22034227;22045853;22078877;22087322;22090097;22190034;22350919;22388891;22454292;22514278;22586265;22590978;22669845;22682247;22692215;22711876;22730322;22751928;22851693;22912335;22939624;22964642;22975506;23027877;23056346;23071779;23115237;23297342;23308067;23440515;23453757;23455922;23514615;23530064;23532963;23546975;23563313;23583392;23607312;23624913;23640883;23737552;23769673;23861398;23912711;23972993;24211209;24211253;24248593;24250222;24269809;24318128;24429874;24451375;24464578;24469040;24500709;24501426;24657926;24700029;24709419;24737324;24760862;24785407;24811168;24912152;25124033;8889548;9660940;9859996;9990852;9990853 8945 B2R8L3;B7Z3H4;Q5T1W7;Q68DS0;Q9Y297 AA824369;ABBA01063193;ABBA01063194;ABBA01063195;ABBA01063196;ABBA01063197;ABBA01063198;ABBA01063199;AF101784;AF129530;AK295870;AK313353;AK313417;AK314880;AL133387;AL445463;AL627424;AL707686;AL833133;AMYH02023674;AMYH02023675;AMYH02023676;AMYH02023677;AY207475;AY207476;BC006204;BC027994;BC063673;BM680713;BQ188694;BX389753;CH471066;CR749295;DA218668;GU727631;NG_009234;NM_001256856;NM_003939;NM_033637;XM_005270264;XM_006718054;XR_428727;Y14153 AAD08702;AAF04464;AAH27994;AAO59171;AAO59172;ADU87633;ADZ15431;BAG36155;BAG36210;BAG37395;BAH12210;CAA74572;CAH18150;EAW49770;EAW49771;EAW49772;EAW49773;EAW49774;NP_001243785;NP_003930;NP_378663;Q9Y297;XP_005270321;XP_006718117 Hs.643802 1732689;2106965;2114541;2127482;2151481;2177433 BTRC_7931;D10S1167;D10S1239;D10S1240;WI-16946;WIAF-1661 BETA-TRCP;FBW1A;FBXW1;FBXW1A;FWD1;MGC4643;bTrCP;bTrCP1;betaTrCP E3RSIkappaB;F-box and WD repeats protein beta-TrCP;F-box and WD-repeat protein 1B;F-box/WD repeat-containing protein 1A;OTTHUMP00000020314;OTTHUMP00000020315;beta-TrCP1;epididymis tissue protein Li 2a;pIkappaBalpha-E3 receptor subunit APPROVED protein-coding ENSG00000166167 HGNC:1144 04596 603482 REVIEWED 1323304 BUB1 BUB1 mitotic checkpoint serine/threonine kinase This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 2 2 2 q14 105046046 105086323 - 111395275 111435684 - 110637698 110678107 - 1600539;1580863;6480464;6907045;8554872 9521327 10198256;10366450;10969775;11134360;11283619;11352911;11782350;11792804;11999574;12096343;12375025;12419313;12477932;12655561;12782591;14702039;15013707;15020684;15342556;15388328;15489334;15525512;15604152;15723797;15818396;15931389;15933723;16046481;16189514;16449967;16525682;16760428;17158872;17210994;17227893;17388661;17488820;17617734;17620410;17925231;17981135;18029348;18036341;18383837;18547097;18791270;18922873;18995837;19015261;19141287;19182530;19242126;19252416;19465021;19487456;19946888;20220147;20231385;20309963;20360068;20468071;20628624;20643875;20660191;20929775;21092550;21139048;21199919;21646403;21963094;21988832;22071147;22099307;22505724;22660415;23288590;23383610;23443559;23728478;23747338;24055156;24250222;24654460;24711138;24756216;8125298;9441741;9660858;9790499;9914370 699 B4DYG2;C9IYH4;C9JQA4;C9JRC7;O43683 ABBA01001561;AC114776;AC226101;AF011387;AF043294;AF046078;AF047471;AF053305;AF139363;AF264055;AI635394;AK023540;AK225317;AK291221;AK302418;AMYH02004567;BC017038;BC028201;BP313176;CH471237;DB453210;HC250947;HC311136;NG_012048;NM_001278616;NM_001278617;NM_004336 AAB97855;AAC03122;AAC06259;AAC12729;AAC39546;AAD43675;AAH17038;AAH28201;AAK29549;AAY14706;ADZ15937;BAF83910;BAG63724;CBJ05771;CBJ21223;EAW50355;NP_001265545;NP_001265546;NP_004327;O43683 Hs.469649 1299936;2107901;2116695;2158007 151XD12;AFMa037yb9;BUB1_8234;D2S1888 BUB1A;BUB1L;hBUB1 BUB1 budding uninhibited by benzimidazoles 1 homolog;OTTHUMP00000204238;OTTHUMP00000204239;budding uninhibited by benzimidazoles 1 homolog;mitotic checkpoint serine/threonine-protein kinase BUB1;mitotic spindle checkpoint kinase;putative serine/threonine-protein kinase APPROVED protein-coding ENSG00000169679 HGNC:1148 03907 602452 REVIEWED 1316316 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008] 15 15 15 q15 17219190 17279313 + 40453210 40513337 + 40161009 40221136 + 1580863;1600540;2326105;2324871;6480464;6907045;7240710;8554872;8699517 15475955;17242465;18497548 10366450;10477750;10593653;10749118;11030144;11129339;11256614;11274370;11283619;11285280;11535616;11702782;11742988;11782350;11792804;11907259;12196507;12388768;12419313;12445743;12477932;12925705;14576821;14593737;14706340;15190214;15388328;15504738;15525512;15592459;16144904;16227576;16411201;16449973;16760428;17210994;17227893;17268814;17350465;17360335;17363900;17376779;17443186;17464181;17478512;17498870;17598981;17676298;17981135;18286482;18440313;18547097;18591651;18654987;18691855;18699967;18710370;18932004;18997788;19015317;19074885;19098431;19117984;19139399;19139432;19154722;19407811;19411850;19465021;19468067;19503101;19550118;19603021;19745606;19789190;19820702;19926498;20132214;20146332;20189264;20204288;20220147;20231385;20237434;20360068;20453000;20459534;20512932;20516114;20733051;21069850;21139048;21199919;21335556;21336306;21389084;21407176;21472690;21525009;21550059;21890473;21906983;21926987;21937719;21988832;22000412;22048964;22100920;22118674;22167194;22193957;22374677;22566641;22698286;22801780;22863883;23007861;23079597;23091007;23128493;23154965;23160376;23239745;23345399;23370767;23392733;23400934;23440991;23443559;23455478;23475578;23536579;23643811;23728478;23754430;23791783;23812934;24067371;24156017;24292274;24581499;24816145;24825348;25012665;9482735;9521327;9618306;9660858;9763420;9889005;9914370 701 H0YMK5;H0YN44;O60566 AB208782;ABBA01038457;ABBA01038458;AC025429;AF035933;AF046079;AF046918;AF053306;AF068760;AF107297;AF310214;AF441125;AI742619;AK296795;AK296984;AK312709;AL597325;AMYH02030232;AMYH02030233;AMYH02030234;BC018739;CH471125;NG_016338;NM_001211 AAC06260;AAC12730;AAC19118;AAC23736;AAC33435;AAD11941;AAH18739;AAL10712;ADZ15521;BAD92019;BAG35587;BAG59371;BAG59525;EAW92394;NP_001202;O60566 Hs.513645 2171962 RH46590 BUB1beta;BUBR1;Bub1A;MAD3L;MVA1;SSK1;hBUBR1 MAD3/BUB1-related protein kinase;OTTHUMP00000160319;budding uninhibited by benzimidazoles 1 homolog beta;mitotic checkpoint kinase MAD3L;mitotic checkpoint serine/threonine-protein kinase BUB1 beta APPROVED protein-coding ENSG00000156970 HGNC:1149 04176 114500;176430;257300;602860 REVIEWED 1315390 BUB3 BUB3 mitotic checkpoint protein This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 10 10 10 q26 118620291 118631417 + 124913760 124924886 + 123154244 123165370 + 1580863;6480464;6907045 10198256;10366450;10828586;11129339;11283619;11285280;11352911;11535616;11702782;11742988;12011073;12217960;12242018;12419313;12477932;12549820;12762840;14593737;15302935;15342556;15388328;15489334;15525512;15635413;15796961;16055720;16760428;17268814;17289665;17332742;18029348;18199686;18729074;18781797;19182530;19322201;19615732;19738201;20220147;20734064;21110914;21139048;21145461;21525009;21853274;21890473;21906983;21907836;21926987;21937719;21963094;21987572;21988832;22000412;22053931;22100920;22193957;22365833;22505724;22623428;22863883;22939629;23000965;23160376;23443559;23643811;23747338;23791783;23956138;23974796;24045676;24250222;24332808;24654937;24711138;24816145;25012665;25015289;25027693;9660858 9184 B4DDM6;J3QSX4;J3QT28;O43684 ABBA01062836;AC012391;AF047472;AF047473;AF053304;AF081496;AK293255;AK307958;AK312546;AMYH02023960;AMYH02023961;BC005138;BC022438;BM989334;BP328027;BU932619;BX647392;CH471066;NG_033794;NM_001007793;NM_004725 AAC06258;AAC28438;AAC28439;AAC36307;AAH05138;AAH22438;ABM82778;ABM85968;BAG35444;BAG56787;EAW49284;EAW49285;EAW49286;EAW49287;NP_001007794;NP_004716;O43684 Hs.418533 2138716;2150048;5017467 RH78800;SHGC-64047;UniSTS:502432 BUB3L;hBUB3 BUB3 budding uninhibited by benzimidazoles 3 homolog;OTTHUMP00000020679;OTTHUMP00000020680;OTTHUMP00000020682;budding uninhibited by benomyl;budding uninhibited by benzimidazoles 3 homolog;mitotic checkpoint component;mitotic checkpoint protein BUB3 APPROVED protein-coding ENSG00000154473 HGNC:1151 04761 603719 REVIEWED 1347250 BVR1 Burkitt lymphoma variant rearranging region 1 700 M16601 HGNC:1153 1353106 BVES-AS1 BVES antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 6 6 6 q21 106207712 106239953 + 105585562 105617820 + 105137687 105169945 + 8554872 14574404;17974005;21654844 154442 Q5T3Y7 ABBA01014398;ABBA01014399;AL137368;AL356775;AL359709;AMYH02014226;HG499479;HG499481;NR_037157 Q5T3Y7 Hs.586271 1674928;1688490;1786058;2159781 RH46697;RH93144;SHGC-155565;WI-15170 C6orf112;DKFZp434F2226;bA99L11.2 chromosome 6 open reading frame 112 APPROVED ncrna ENSG00000203808 HGNC:21223 VALIDATED 1604400 BUD31 BUD31 homolog (S. cerevisiae) ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription from RNA polymerase II promoter (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 7 7 7 q22.1 93740801 93751440 + 99006243 99017239 + 99408641 99419616 + 6480464;6907045 12477932;12690205;12853948;15489334;21139048;21628590;21832049;21890473;21906983;21988832;22365833;22939629;22944692;23000965;24457600;24816145;7841202 8896 C9JCD9;C9JNV2;F8WCN7;P41223 ABBA01013263;AC004922;AK297784;AK316477;AMYH02016360;BC022821;BC104670;CH236956;CH471091;CR456951;NM_003910;S77329;U11861;XM_005250670;XM_005250671;XM_005250672;XM_005250673;XM_005250674 AAA20008;AAB33291;AAH22821;AAI04671;BAH12665;BAH14848;CAG33232;EAL23881;EAW76670;EAW76671;EAW76672;EAW76673;NP_003901;P41223;XP_005250727;XP_005250728;XP_005250729;XP_005250730;XP_005250731 Hs.380233 1693582 SHGC-58489 Cwc14;EDG-2;EDG2;G10;MGC111202;YCR063W;fSAP17 G10 maternal transcript homolog;OTTHUMP00000206247;OTTHUMP00000206248;OTTHUMP00000206249;OTTHUMP00000206250;functional spliceosome-associated protein 17;maternal G10 transcript;protein BUD31 homolog;protein G10 homolog protein-coding ENSG00000106245 HGNC:29629 10351 603477 VALIDATED 1344210 BVES blood vessel epicardial substance This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] 6 6 6 q21 106167189 106206693 - 105544697 105585049 - 105096822 105137174 - 1302855;1580863;6480464;8554872 10882522 10441744;12477932;15489334;16188940;17207965;18349282;18391951;19448622;20546612;20627872;21069264;21283798;21911938;22109561;22354168;23403794;24250222;24442236 11149 Q8NE79 ABBA01014399;ABBA01014400;AF204172;AK289979;AL356775;AMYH02014225;AMYH02014226;BC034425;BC040502;CH471051;NM_001199563;NM_007073;NM_147147;Z95329 AAG23405;AAH34425;AAH40502;ADQ32332;BAF82668;EAW48430;EAW48431;EAW48432;NP_001186492;NP_009004;NP_671488;Q8NE79 Hs.221660 1650344;2150474;5015881;5016781;5022651;5037552 AFMA125XC1;D11S2921;D6S1121E;D8S2279;GDB:335751;SHGC-67307 HBVES;MGC42413;POP1;POPDC1 OTTHUMP00000016910;OTTHUMP00000016911;OTTHUMP00000242208;popeye domain containing 1;popeye domain-containing protein 1;popeye protein 1 APPROVED protein-coding ENSG00000112276 HGNC:1152 06842 604577 REVIEWED 6770613 BZRAP1-AS1 BZRAP1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH valproic acid 17 17 17 52864591 52892877 + 56402811 56431088 + 58325450 58353727 + 6480464;8554872 12477932;14702039 100506779 ABBA01041333;ABBA01041334;AC004687;AI056234;AK000271;AK090885;AK311208;AK311306;AK311311;AMYH02033687;AV732878;BC032475;BC050403;BC064565;BI820069;HG509276;HG509277;HG509278;HG509279;HG509280;HG509281;HG509283;HG509285;HG509286;NR_038410;NR_038411;NR_038412;NR_038413;NR_038414;NR_038415;NR_038416;NR_038417;NR_038418 Hs.718477 1661589;1665695;1672042;1682421;1693448;1767703;1777933;2176709;2187152 D17S1419E;G42387;RH35987;RH45569;RH68148;RH70634;RH93017;STS-H72889;WI-11652 RP5-1171I10.4 APPROVED ncrna ENSG00000265148 HGNC:44148 VALIDATED 2301778 BZW1P1 basic leucine zipper and W2 domains 1 pseudogene 1 3 3 3 q26.31 170540576 170543554 - 172141985 172144887 - 172424195 172427097 - 391592 ABBA01058652;ABBA01058653;AC069523;AMYH02008147;NG_008827 1689077 RH65648 pseudo HGNC:31378 INFERRED 1353488 C10orf102 chromosome 10 open reading frame 102 q22.2 414244 AC022400 RP11-574K11.12 protein-coding HGNC:31431 1347888 BZW1 basic leucine zipper and W2 domains 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm; membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; acetylsalicylic acid 2 2 2 q33 195431568 195443290 + 201676262 201688569 + 200811546 200823846 + 1302740;6480464 11524015 10942595;10964520;11101529;12477932;14702039;15489334;15815621;16964243;17081983;17353931;18654987;18781797;19446954;19946888;21139048;21319273;21734401;21890473;21906983;21963094;22053931;22505724;22863883;22939629;23000965;24816145;7584026;7584028;8125298 9689 C9IZ80;C9J188;C9JFN4;C9JV57;C9JWF5;H0Y503;Q3LIC9;Q7L1Q6 AA868237;AB074176;ABBA01062521;AC007163;AK096489;AK223245;AK297227;AK301511;AL833518;AMYH02005541;BC001804;BC026303;CB055242;CH471063;D13630;DC386317;DC409063;NM_001207067;NM_001207068;NM_001207069;NM_014670;Z70221 AAH01804;AAH26303;AAX93286;ABM84154;ABM87556;BAA02795;BAD96965;BAE45739;BAG53303;BAG59710;BAG63019;CAA94180;EAW70212;EAW70213;NP_001193996;NP_001193997;NP_001193998;NP_055485;Q7L1Q6 Hs.355983;Hs.736074 1673874;1676342;1685742;1689077;1693748;1728871;5125439 G15932;G54452;RH25246;RH65648;RH67925;SHGC-58821;SHGC-77255 BZAP45;KIAA0005;Nbla10236 OTTHUMP00000206080;OTTHUMP00000206082;OTTHUMP00000206083;OTTHUMP00000206084;OTTHUMP00000206086;basic leucine zipper and W2 domain-containing protein 1;basic leucine-zipper protein BZAP45;protein Orf;putative protein product of Nbla10236 protein-coding ENSG00000082153 HGNC:18380 16570 VALIDATED 1352999 BYSL bystin-like Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 43441757 43453576 + 41888965 41900784 + 41921227 41933046 + 1580863;2316201;6480464 15305856 10026108;12477932;14633596;15489334;16189514;16713569;17081983;17360433;17381424;17917702;18029348;19471022;19738201;19820697;19862010;19946888;20139978;20805244;21048031;21139048;21145461;21693764;21832049;21890473;21906983;21963094;22505724;22586326;22797925;22863883;22939629;23184937;23263863;24250222;24457600;24778252;24816145;9560222;9925933 705 F8WBL2;H7BY94;Q13895 ABBA01050744;ABBA01050745;AK314147;AL160163;AMYH02013614;BC007340;BC050645;BC062627;CH471081;L36720;NM_004053 AAC16603;AAH07340;AAH50645;AAH62627;ABM83840;ABM87162;EAX04069;NP_004044;Q13895 Hs.106880 1795452;2183548 BYSL_1485;RH15844 OTTHUMP00000016385;by the ribosomal protein s6 gene, drosophila, homolog-like;bystin APPROVED protein-coding ENSG00000112578 HGNC:1157 04848 603871 REVIEWED 1352536 C10orf10 chromosome 10 open reading frame 10 The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 41474883 41477504 - 45471709 45474330 - 44976261 44978882 - 6480464 11076863;11230166;11256614;12477932;14702039;15164054;15489334;15489336;15977181;16123073;16189514;16344560;16381901;16385451;16713569;19060904;19937567;20822508;20877624;21510935;24530860;24936657 11067 Q9NTK1;X6RKE0 AB022718;AB025244;ABBA01050023;AK002191;AK098476;AK300839;AK312496;AL136653;AL353801;AMYH02022729;BC011402;CH471160;DB030770;NM_007021 AAH11402;ABM82987;ABM86180;BAA74504;BAC87794;BAG35398;BAG51027;BAG62490;CAB66588;CAL38369;EAW86629;NP_008952;Q9NTK1 Hs.93675 1736028;2119900 A002O19;D10S1304E DEPP;FIG;Fseg OTTHUMP00000019496;OTTHUMP00000019497;decidual protein induced by progesterone;fasting induced;fasting-induced gene protein;fasting-induced protein;fat-specific expressed APPROVED protein-coding ENSG00000165507 HGNC:23355 12558 611309 REVIEWED 1346064 C10orf105 chromosome 10 open reading frame 105 ASSOCIATED WITH Deafness, Autosomal Recessive 12 (inferred); Lung Neoplasms (inferred); Usher syndrome, type 1D (inferred); FOUND IN integral component of membrane (inferred) 10 10 10 q22.1 66753897 66780020 - 73471458 73497581 - 71711701 71737824 - 8554872 12477932 414152 B1AVV1;Q8TEF2 ABBA01020374;AK074172;AK123442;AL731541;AMYH02023302;BC071608;BF508486;CH471083;NG_008835;NM_001164375;NM_001168390 BAB84998;EAW54433;NP_001157847;NP_001161862;Q8TEF2 Hs.568788 2138594 STS-N39237 FLJ00245 hypothetical protein LOC414152;uncharacterized protein C10orf105 protein-coding ENSG00000214688 HGNC:20304 VALIDATED 1346920 BZRAP1 benzodiazepine receptor (peripheral) associated protein 1 ENCODES a protein that exhibits benzodiazepine receptor binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; mitochondrion; INTERACTS WITH 17beta-estradiol; hydroquinone O-beta-D-glucopyranoside; mycophenolic acid 17 17 17 q22-q23 52840368 52867932 - 56378588 56406152 - 58301227 58328791 - 1302420;1580863;6480464;8554872 9915832 10737800;12477932;15489334;17855024;19557195;21078624;22745667;24722188;9734811 9256 A7E2C5;B2RUT8;B7ZVZ7;J3KSY4;J3KT64;O95153;X5DQQ3 AB014512;ABBA01041332;ABBA01041333;AC004687;AF039571;AI811889;AMYH02033687;BC031401;BC146852;BC150279;BC171787;BE246483;BF934025;BX648763;CH471109;KJ534781;KJ534782;KJ534783;KJ534784;KJ534785;KJ534786;KJ534787;KJ534788;KJ534789;KJ534790;KJ535016;KJ535062;NM_001261835;NM_004758;NM_024418;XM_005257807;XM_006722173;XM_006722174;XM_006722175;XM_006722176;XM_006722177;XM_006722178 AAD11957;AAH31401;AAI46853;AAI50280;AAI71787;AHW56421;AHW56422;AHW56423;AHW56424;AHW56425;AHW56426;AHW56427;AHW56428;AHW56429;AHW56430;AHW56655;AHW56701;BAA31587;EAW94468;EAW94469;NP_001248764;NP_004749;NP_077729;O95153;XP_005257864;XP_006722236;XP_006722237;XP_006722238;XP_006722239;XP_006722240;XP_006722241 Hs.112499 2107903 BZRAP1_8916 DKFZp686F02123;KIAA0612;PBR-IP;PRAX-1;PRAX1;RIM-BP1;RIMBP1 RIMS-binding protein 1;benzodiazapine receptor (peripheral) associated protein 1;benzodiazapine receptor peripheral-associated protein 1;peripheral benzodiazepine receptor-associated protein 1;peripheral benzodiazepine receptor-interacting protein;peripheral-type benzodiazepine receptor-associated protein 1 APPROVED protein-coding ENSG00000005379 HGNC:16831 09832 610764 VALIDATED 1353258 C10orf106 chromosome 10 open reading frame 106 414246 HGNC:31433 731291 BZW2 basic leucine zipper and W2 domains 2 INVOLVED IN cell differentiation (inferred); nervous system development (inferred); FOUND IN membrane; INTERACTS WITH (+)-catechin; all-trans-retinoic acid; diazinon 7 7 7 p21.1 16665515 16725894 + 16685759 16746148 + 16646134 16706523 + 6480464 11042152;12477932;12690205;12853948;14702039;15489334;15635413;17081983;17353931;18781797;19322201;19454010;19738201;19913121;19946888;20379614;20628086;21139048;21745818;21890473;21900206;21906983;21963094;22053931;22863883;23000965;23383273;23455922;23535033;23956138;24654937;24816145;25036637 28969 B5MCE7;B5MCH7;C9JF98;E7EMS9;E7ETZ4;E9PFD4;F8WDX8;Q75MG1;Q9Y6E2 ABBA01056632;ABBA01056633;ABBA01056634;AC073201;AC073333;AF083246;AF110323;AK001218;AK001260;AK027837;AK297496;AK300655;AMYH02015305;AX876247;BC001570;BC003056;BC008453;BC009597;BC017794;BC051898;BC107757;CH236948;CH471073;NM_001159767;NM_014038;NR_027624;XM_006715706;XM_006715707;XM_006715708 AAD39844;AAG39278;AAH03056;AAH08453;AAH09597;AAH17794;AAI07758;AAS07544;ABM83422;ABM86634;BAA91562;BAB55401;BAG50880;BAH12594;BAH13321;CAE89186;EAL24285;EAW93675;EAW93676;EAW93677;EAW93678;EAW93679;NP_001153239;NP_054757;Q9Y6E2;XP_006715769;XP_006715770;XP_006715771 Hs.487635 1670628;2110287;2123838;2153596;2176495 BZW2_9566;D7S1766;GDB:1318220;RH36275;SHGC-55976 HSPC028;MST017;MSTP017 OTTHUMP00000161321;OTTHUMP00000201712;OTTHUMP00000201748;OTTHUMP00000201749;basic leucine zipper and W2 domain-containing protein 2;hfb2 protein protein-coding ENSG00000136261 HGNC:18808 16571 VALIDATED 2298828 BZW1P2 basic leucine zipper and W2 domains 1 pseudogene 2 3 3 3 q13.31 114771072 114773381 - 116363085 116365571 - 116644238 116646724 - 16641997 151579 ABBA01061611;AC108687;AMYH02007479;NG_022890 1673874;1676342;1685742;1728871 G15932;G54452;RH25246;RH67925 BZW1L1 APPROVED pseudo HGNC:33954 INFERRED 1315529 C10orf107 chromosome 10 open reading frame 107 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cisplatin (ortholog); indole-3-methanol (ortholog) 10 10 10 q21.2 56689752 56792965 + 63422709 63526524 + 61662951 61766766 + 737633;6480464 12477932 15489334;16385451;17207965;19430483;20379614;20542020;20852445;21045733;21909110;23006423;23251661 219621 H0Y3I3;Q8IVU9 ABBA01019478;ABBA01019479;ABBA01019480;AC022398;AL451049;AMYH02023182;AMYH02023183;AMYH02023184;BC041932;CH471083;NM_173554;XM_005269598;XM_005269599;XM_005269600;XM_006717690;XM_006717691;XM_006717692 AAH41932;ADQ32480;EAW54221;EAW54222;EAW54223;EAW54224;NP_775825;Q8IVU9;XP_005269655;XP_005269656;XP_005269657;XP_006717753;XP_006717754;XP_006717755 Hs.673160 1339863;1704054;1708580;1753863 D10S1640;SHGC-108039;SHGC-77852;SHGC-85079 MGC44593;bA63A2.1 OTTHUMP00000019665;hypothetical protein LOC219621;uncharacterized protein C10orf107 protein-coding ENSG00000183346 HGNC:28678 12559 VALIDATED 1606384 C10orf113 chromosome 10 open reading frame 113 10 10 10 p12.31 21101350 21122146 - 21414692 21435488 - 21125763 21146559 - 12477932;15164054;23535730 387638 Q5VZT2 ABBA01034505;AI806552;AL158160;AMYH02022416;BC140744;BC144447;NG_017092;NM_001010896;NM_001177483 AAI40745;NP_001010896;NP_001170954;Q5VZT2 Hs.664110 5113034 RH66460 bA165O3.1 OTTHUMP00000019267;OTTHUMP00000235929;putative uncharacterized protein C10orf113 protein-coding ENSG00000204683 HGNC:31447 16573 VALIDATED 1323299 C10orf12 chromosome 10 open reading frame 12 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 10 10 10 q24.1 92482640 92487184 + 98741041 98745585 + 96981284 96985828 + 6480464;8554872 12477932;14702039;15164054;15489334;16189514;21890473;24457600;24550272 26148 Q8N655 ABBA01021819;AK023084;AK025166;AK126886;AL049938;AL442123;AMYH02023602;BC024315;BC031482;NM_015652 AAH24315;AAH31482;BAB14396;CAB43214;NP_056467;Q8N655 Hs.14555;Hs.427927 2134778 D10S2419 DKFZp564P1916;FLJ13022 OTTHUMP00000020178;hypothetical protein LOC26148;uncharacterized protein C10orf12 protein-coding ENSG00000155640 HGNC:23420 12563 PROVISIONAL 1345714 C10orf124 chromosome 10 open reading frame 124 q26.3 440012 AL691429 CAI17262 bB137A17.2 protein-coding HGNC:31655 1343828 C10orf111 chromosome 10 open reading frame 111 FOUND IN integral component of membrane (inferred); INTERACTS WITH dimethyl sulfoxide; silicon dioxide 10 10 10 p13 15066016 15067950 - 15137384 15139318 - 15095385 15097319 - 737633;6480464 12477932 15164054;15489334;24250222 221060 Q8N326 ABBA01034599;AK314131;AL590365;AMYH02022205;BC029034;BC036401;NM_153244 AAH29034;ADZ15789;BAG36821;NP_694976;Q8N326 Hs.567777 5037552 D8S2279 MGC35468;bA455B2.4 OTTHUMP00000019199;hypothetical protein LOC221060;uncharacterized protein C10orf111 protein-coding ENSG00000176236 HGNC:28582 16572 PREDICTED 1343385 C10orf123 chromosome 10 open reading frame 123 q26.3 414258 AL392043;AL691429 CAI39951 bA288G11.5 protein-coding HGNC:31654 1346015 C10orf131 chromosome 10 open reading frame 131 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 10 q24.1 91408931 91439619 + 97667722 97698415 + 95907965 95938658 + 8554872 15164054;24250222 100127889 A6NCD4;R4GN90 ABBA01021833;AK294399;AL365273;AL513355;AMYH02023583;NM_001130446 A6NCD4;BAG57652;NP_001123918 Hs.719076 2170211 SHGC-30780 FLJ10895;bA690P14.3 hypothetical protein LOC100127889;uncharacterized protein C10orf131 protein-coding ENSG00000173088 HGNC:31667 PREDICTED 1352264 C10orf138 chromosome 10 open reading frame 138 414234 HGNC:30374 1354019 C10orf133 chromosome 10 open reading frame 133 414267 HGNC:31669 1351198 C10orf14 chromosome 10 open reading frame 14 15164054 414171 HGNC:23430 1321229 C10orf11 chromosome 10 open reading frame 11 INVOLVED IN melanocyte differentiation; ASSOCIATED WITH ALBINISM, OCULOCUTANEOUS, TYPE V (inferred); Autosomal recessive inheritance (inferred); Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 10 10 10 q22.3 70831521 71605978 + 77191217 78317133 + 75431459 76557375 + 6480464;8699517;8554872;7240710 14702039;16385451;16964243;19844253;19901119;20379614;21946350;22180457;23284291;23395477;23568457;23932459 83938 M0R2H0;Q9H2I8 ABBA01020246;ABBA01020247;ABBA01020248;AC010997;AC012047;AC012048;AC013286;AC024603;AF267860;AK125328;AL136451;AL589863;AL596260;AL607027;AL645925;AL731568;AMYH02023368;AMYH02023369;AMYH02023370;AMYH02023371;CH471083;CR933639;KF455263;KF455264;NM_032024;XM_005270212 AAG44729;EAW54585;EAW54586;EAW54587;NP_114413;Q9H2I8;XP_005270269 Hs.118161;Hs.690504 1335229;1338564;1338924;1645454;1650409;1657303;1664547;1677486;1679896;1701346;1706520;1710770;1718079;1722947;1724857;1724949;1725049;1752621;1757567;1760661;1768185;1774726;1790293;1851620;2113942;2126289;2138147;2145760;2146460;2154070;2155460;7183685;7186028;7186529;7186845 AB056408;AFM206YG1;D10S1699;D10S195;D10S2266;D10S580;D3S3970;G17476;G18060;G28019;G60571;KS701;RH104303;RH118820;RH119191;RH119242;RH122658;RH17561;RH44932;RH65118;RH65409;RH70106;RH80991;RH91322;SGC34457;SHGC-106442;SHGC-144206;SHGC-145029;SHGC-81232;SHGC-84049;STS-N25920 CDA017;OCA5;OCA7 OTTHUMP00000019889;OTTHUMP00000019890;leucine-rich repeat-containing protein C10orf11;oculocutaneous albinism 7, autosomal recessive protein-coding ENSG00000148655 HGNC:23405 12560 614537;615179 PROVISIONAL 1344407 C10orf128 chromosome 10 open reading frame 128 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH C60 fullerene (ortholog) 10 10 10 q11.23 43949478 43982598 - 50363890 50396640 - 49154724 49188595 - 737633;6480464;8554872 12477932 16344560 170371 G3V182;Q5T290;Q5T292 ABBA01041074;ABBA01041075;AC084727;AK303891;AL441885;AL524299;AL832399;AMYH02022985;BC031641;BC037922;BC042857;BC047724;BC104438;BC104439;BU145920;CB530036;CH471187;DA366138;DC389158;DQ884399;NM_001010863;NM_001288740;NM_001288741;NM_001288742;NM_001288743;XM_006717655 ABI63366;BAH14074;EAW93107;EAW93108;EAW93109;EAW93110;NP_001010863;NP_001275669;NP_001275670;NP_001275671;NP_001275672;Q5T292;XP_006717718 Hs.385493 1689430;1709444;1765471;2147366 RH93539;SHGC-148957;SHGC-81764;STS-AA041552 OTTHUMP00000019573;OTTHUMP00000019574;OTTHUMP00000019575;putative uncharacterized protein C10orf128 protein-coding ENSG00000204161 HGNC:27274 PREDICTED 1604915 C10orf120 chromosome 10 open reading frame 120 ASSOCIATED WITH Melanoma (inferred) 10 10 10 q26.13 118163641 118165754 - 124457225 124459338 - 122697709 122699822 - 8554872 12477932;15164054;15489334 399814 H0Y758;Q5SQS8 ABBA01062840;AL704711;AL731543;AMYH02023956;AMYH02023957;BC065903;BC140922;CH471066;NM_001010912 AAI40923;EAW49307;NP_001010912;Q5SQS8 Hs.363649;Hs.745528 bA318C4.1 OTTHUMP00000020665;OTTHUMP00000020666;hypothetical protein LOC399814;uncharacterized protein C10orf120 protein-coding ENSG00000183559 HGNC:25707 16577 PREDICTED 7245990 C10orf126 chromosome 10 open reading frame 126 10 10 p12.1 29135337 29170827 + 28846408 28881898 + 11181995;12477932;15489334 283080 Q8N4M7 ABBA01034371;AL390248;AMYH02022542;AMYH02022543;BC033839;CH471072;LN608327;NM_001278522 ABM82201;ABM85389;EAW86026;NP_001265451;Q8N4M7 bA492M23.1 putative uncharacterized protein C10orf126 protein-coding ENSG00000204365 HGNC:28693 VALIDATED 1348451 C10orf25 chromosome 10 open reading frame 25 FOUND IN extracellular region (inferred) 10 10 10 q11.21 41496320 41499644 - 45493146 45496470 - 44997698 45001022 - 12477932;14702039;15164054;16344560;16385451 220979 Q5T742 ABBA01050024;AK055129;AK311351;AL353801;AMYH02022729;BC062568;BC130369;BC130395;CH471160;DA772947;DR005042;NM_001039380 AAI30370;AAI30396;ADR82803;BAB70858;EAW86630;EAW86631;NP_001034469;Q5T742 Hs.707791 FLJ18393;FLJ30567 OTTHUMP00000019499;hypothetical protein LOC220979;uncharacterized protein C10orf25 protein-coding ENSG00000165511 HGNC:23509 VALIDATED 1317337 C10orf2 chromosome 10 open reading frame 2 This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009] 10 10 10 q24 96485015 96491881 + 102747293 102754159 + 100987536 100994402 + 1580863;1600544;6480464;7240710;8554872;8694093;8699517;8694187 11431692;22229649;22743328 10645945;11756592;12163192;12477932;12557300;12686611;12707443;12872260;12921794;12975372;14702039;14739292;15164054;15167897;15181170;15231748;15509589;15668446;16135556;16169070;16344560;16385451;16712791;17324440;17420318;17614276;17614277;17620490;17722119;17921179;18039713;18063578;18396044;18575922;18708037;18971204;18973250;18989381;19304794;19425506;19428252;19513767;19853444;20181062;20186120;20301317;20301746;20301791;20479361;20562859;20659899;20843780;20877624;20880070;21540127;21689831;22353293;22383523;22580846;22952820;23375728;24018892;24218554;24457600;24657165;7719341;7726163;9027505 56652 E5KSY5;Q96RR1;Q9H6V3 ABBA01063211;ABBA01063212;AF292004;AF292005;AK022959;AK025485;AK297068;AK308098;AL133215;AMYH02023664;BC013349;BC033762;BG473173;BQ643363;BX640829;CB112401;CH471066;DB090322;EU543650;HQ206106;HQ206107;HQ206108;HQ206109;HQ206110;HQ206111;HQ206112;HQ206113;HQ206114;HQ206115;HQ206116;HQ206117;HQ206118;HQ206119;HQ206120;HQ206121;HQ206122;HQ206123;HQ206124;HQ206125;HQ206126;HQ206127;HQ206128;HQ206129;HQ206130;HQ206131;HQ206132;HQ206133;HQ206134;HQ206135;HQ206136;HQ206137;HQ206138;HQ206139;HQ206140;HQ206141;HQ206142;HQ206143;HQ206144;HQ206145;NG_012624;NM_001163812;NM_001163813;NM_001163814;NM_021830;XM_006717921;XM_006717922;XR_246100 AAH13349;AAH33762;AAK69558;AAK69559;ACB21043;ADP92014;ADP92015;ADP92016;ADP92017;ADP92018;ADP92019;ADP92020;ADP92021;ADP92022;ADP92023;ADP92024;ADP92025;ADP92026;ADP92027;ADP92028;ADP92029;ADP92030;ADP92031;ADP92032;ADP92033;ADP92034;ADP92035;ADP92036;ADP92037;ADP92038;ADP92039;ADP92040;ADP92041;ADP92042;ADP92043;ADP92044;ADP92045;ADP92046;ADP92047;ADP92048;ADP92049;ADP92050;ADP92051;ADP92052;ADP92053;BAB15148;BAG59589;CAE45905;EAW49793;EAW49794;NP_001157284;NP_001157285;NP_001157286;NP_068602;Q96RR1;XP_006717984;XP_006717985 Hs.22678 1336971;1658318;1661459;1661698;2155328;7185217 A004R30;D10S1265;D10S192;SHGC-32265;STS-D11794;STS-W80406 ATXN8;C10orf2;FLJ21832;IOSCA;MTDPS7;PEO;PEO1;PEOA3;SCA8;TWINL SANDO;T7 gp4-like protein with intramitochondrial nucleoid localization;T7 helicase-related protein with intramitochondrial nucleoid localization;T7-like mitochondrial DNA helicase;ataxin 8;progressive external ophthalmoplegia 1 ;twinkle protein, mitochondrial APPROVED protein-coding ENSG00000107815 HGNC:1160 05830 271245;606075;609286 REVIEWED 1350474 C10orf43 chromosome 10 open reading frame 43 414155 AL603965 FLJ32754;bA145E20.5 protein-coding HGNC:21291 7365766 C10orf32-ASMT C10orf32-ASMT readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring C10orf32 (chromosome 10 open reading frame 32) and AS3MT (arsenic, +3 oxidation state, methyltransferase) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 10 10 q 104613967 104661656 + 102854210 102901899 + 12477932;20967262;23453885;23974872 100528007 ABBA01063131;ABBA01063132;AL358790;AMYH02023712;AMYH02023713;BC040069;NR_037644 Hs.720370 1670076;1774675 RH44877;STS-N70305 C10orf32-AS3MT ncrna HGNC:49183 VALIDATED 1348811 C10orf55 chromosome 10 open reading frame 55 ASSOCIATED WITH Alzheimer Disease (inferred) 10 10 10 q22.2 68953043 68965862 - 75669727 75682535 - 73909969 73922777 - 12477932;14702039;15164054;15489334;19913121;20628086;21145461;23128233 414236 Q5SWW7 ABBA01020301;ABBA01020302;AI912900;AK092517;AL596247;AMYH02023341;BC049374;CH471083;LN608347;NM_001001791 AAH49374;BAC03908;EAW54546;NP_001001791;Q5SWW7 Hs.585453 1677941;1741587;1793546;5108156;5491394 GDB:181547;PLAU;PMC229370P1;RH92165;SHGC-31374 bA417O11.3 OTTHUMP00000019858;hypothetical protein LOC414236;uncharacterized protein C10orf55 protein-coding ENSG00000222047 HGNC:31008 16580 VALIDATED 1345709 C10orf53 chromosome 10 open reading frame 53 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 10 10 10 q11.23 44473742 44502988 + 50887684 50916956 + 49679638 49708910 + 737633;8554872 12477932 14702039;15489334;16344560;20379614 282966 Q8N6V4 ABBA01041070;AC069546;AC073366;AK091773;AMYH02022985;AMYH02022986;AW182169;BC028127;BX102324;CH471187;DB043416;NM_001042427;NM_182554 AAH28127;EAW93083;EAW93084;EAW93085;NP_001035892;NP_872360;Q8N6V4 Hs.131287 FLJ60598 OTTHUMP00000019586;OTTHUMP00000019587;UPF0728 protein C10orf53;hypothetical protein LOC282966 protein-coding HGNC:27421 12579 VALIDATED 1348188 C10orf64 chromosome 10 open reading frame 64 FOUND IN integral component of membrane (inferred) q11.22 737633 12477932 14702039;15489334;18519826 159491 AC035139;AC068898;AK093607;AK127650;BC034937;XM_001124973;XM_001124974;XM_001719015 AAH34937;BAC04204;BAC87073;Q6ZS81;Q8N222;XP_001124973;XP_001124974;XP_001719067 Hs.287379 FLJ36288;FLJ45748;MGC40604 protein-coding HGNC:27253 12555 1323417 C10orf32 chromosome 10 open reading frame 32 INTERACTS WITH (-)-demecolcine; all-trans-retinoic acid; copper(2+) sulfate 10 10 10 q24.32 98354550 98365297 + 104613967 104624718 + 102854210 102864961 + 6480464 12477932;14702039;15164054;15489334;16344560;19915575;21139048;23535732;23974872;24250222;7566098 119032 Q96B45 AA299084;ABBA01063132;AI147530;AK098071;AK311742;AL358790;AL832477;AMYH02023712;AW058660;BC015994;BP419064;CS300779;DA006534;NM_001136200;NM_144591 AAH15994;BAG34685;BAG53576;CAI46115;CAK32443;NP_001129672;NP_653192;Q96B45 Hs.34492 1690906;2148367;2177243;5015619;5015961;5022200 D10S1565;D11S3114;D15S1477;L18426;RH93016;SHGC-36540 DKFZp686B2219;FLJ40752;MGC27171;RP11-753C18.6 OTTHUMP00000020385;OTTHUMP00000020386;OTTHUMP00000211190;UPF0693 protein C10orf32;hypothetical protein LOC119032 protein-coding ENSG00000166275 HGNC:23516 12571 VALIDATED 1313704 C10orf35 chromosome 10 open reading frame 35 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; hydralazine 10 10 10 q22.1 64666901 64670261 + 71390003 71393355 + 69630247 69633599 + 737633;6480464;8554872 12477932 11591653;15164054;15489334;16344560;16385451;17207965;20379614;21139048 219738 Q5VVH9;Q96D05 ABBA01019610;AL450311;AMYH02023273;BC013587;BF510821;CH471083;CK903062;DB339258;DB465414;NM_145306;XM_005269606;XM_005269608 AAH13587;ADQ33141;EAW54330;EAW54332;NP_660349;Q96D05;XP_005269663;XP_005269665 Hs.522992 1644489 WI-12709 OTTHUMP00000019727;hypothetical protein LOC219738;uncharacterized protein C10orf35 protein-coding ENSG00000171224 HGNC:23519 12573 VALIDATED 1351899 C10orf62 chromosome 10 open reading frame 62 10 10 10 q24.2 93086753 93087994 + 99349450 99350691 + 97589693 97590934 + 11076863;12477932;15164054;15489334;15489336;16189514;16381901;19060904;19447967 414157 Q5T681 ABBA01021800;AL355315;AMYH02023611;BC037252;BC043281;BI826342;CH471066;NG_027922;NM_001009997 AAH37252;CAL37434;CAL37673;CAL38043;CAL38061;CAL38381;CAL38664;CAL38665;CAL38667;EAW49915;NP_001009997;Q5T681 Hs.662302 1679025 RH92617 bA548K23.1 OTTHUMP00000020214;hypothetical protein LOC414157;uncharacterized protein C10orf62 protein-coding ENSG00000203942 HGNC:23294 16581 VALIDATED 7206953 C10orf71-AS1 C10orf71 antisense RNA 1 10 10 q11.23 50504495 50506938 - 49296283 49298893 - 16344560 100506769 ABBA01041072;AC027674;AMYH02022985;DA762755;DA764276;NR_108038 Hs.562293 1675049;2144831 RH41964;SHGC-58001 ncrna HGNC:45007 VALIDATED 1605963 C10orf54 chromosome 10 open reading frame 54 INVOLVED IN BMP signaling pathway (inferred); negative regulation of CD4-positive, alpha-beta T cell proliferation (inferred); negative regulation of T cell cytokine production (inferred); FOUND IN external side of plasma membrane (inferred); integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; paracetamol 10 10 10 q22.1 66789752 66815911 - 73507313 73533337 - 71747556 71773580 - 6480464 12477932;12975309;14702039;15164054;15231748;15340161;15489334;15498874;16189514;17207965;20666777;21906983;21963094;22424883;22488247;23784006 64115 Q9H7M9;R4GNB4 ABBA01020373;ABBA01020374;AF193048;AF289594;AK024449;AL731541;AMYH02023302;AY265805;AY358379;BC020568;BC111048;BC127257;CH471083;EF506490;NG_008835;NM_022153 AAG22476;AAH20568;AAI11049;AAI27258;AAL55778;AAP03084;AAQ88745;ABP88253;ADQ32336;BAB15739;EAW54435;NP_071436;Q9H7M9 Hs.47382 1794772;2127052;2144039 PMC55343P6;STS-R80211;STS-W72919 B7-H5;B7H5;GI24;PP2135;SISP1;sisp-1 OTTHUMP00000019774;platelet receptor Gi24;stress induced secreted protein 1;stress-induced secreted protein-1 protein-coding ENSG00000107738 HGNC:30085 15160 615608 VALIDATED 1350054 C10orf67 chromosome 10 open reading frame 67 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH arsane; arsenic atom 10 10 10 p12.2 23293123 23322454 - 23605520 23633772 - 23316591 23344843 - 737633;6480464;8554872 12477932 15164054;15489334;18723019 256815 Q5SXQ8;Q8IYJ2 ABBA01034466;ABBA01034467;ABBA01034468;AL592296;AL606469;AMYH02022447;AMYH02022448;AMYH02022449;BC035732;CH471072;NM_153714 AAH35732;EAW86129;EAW86131;EAW86132;NP_714925;Q8IYJ2 Hs.522360 1848750 G09328 MGC46732;RP11-792P23.2 OTTHUMP00000019310;hypothetical protein LOC256815;uncharacterized protein C10orf67 protein-coding ENSG00000179133 HGNC:28716 12585 VALIDATED 1353451 C10orf71 chromosome 10 open reading frame 71 INTERACTS WITH indole-3-methanol (ortholog) 10 10 10 q11.23 44093353 44121712 + 50505118 50535537 + 49297081 49327492 + 6480464 12477932;14702039;15164054;23362303 118461 Q711Q0;Q9BQV1 ABBA01041072;AC027674;AJ237663;AJ311357;AJ311358;AK056949;AK127811;AL833265;AMYH02022985;BC126413;NM_001135196;XM_005269476;XM_005269477;XM_005269478;XM_006717602;XM_006717603 AAI26414;ADR83248;BAB71321;BAG54576;CAC33852;CAC85340;CAC85341;NP_001128668;Q711Q0;XP_005269533;XP_005269534;XP_005269535;XP_006717665;XP_006717666 Hs.585480 1736008 D10S1293E FLJ45913 OTTHUMP00000019577;hypothetical protein LOC118461;uncharacterized protein C10orf71 protein-coding ENSG00000177354 HGNC:26973 10699 VALIDATED 1313900 C10orf76 chromosome 10 open reading frame 76 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsane; arsenic atom; hydrogen peroxide 10 10 10 q24.32 97344794 97556879 - 103605356 103815932 - 101845599 102056175 - 6480464;8554872 10737800;12477932;14702039;16344560;16385451;21139048;21906983;21963094;23870195 79591 B3KUU6;Q5T2E6;Q5T2E7;Q5T2E8 ABBA01063176;ABBA01063177;ABBA01063178;ABBA01063179;ABBA01063180;ABBA01063181;ABBA01063182;ABBA01063183;ABBA01063184;ABBA01063185;ABBA01063186;AC010789;AK023176;AK097972;AK308479;AL391827;AL592069;AMYH02023684;AMYH02023685;AMYH02023686;AW936405;BC032118;BC054882;BC110511;CH471066;DA020448;DA311439;DR002231;DT932690;NM_024541;XM_006717969;XR_246104 AAH54882;BAB14447;BAG53558;EAW49727;EAW49728;EAW49729;NP_078817;Q5T2E6;XP_006718032 Hs.16004 1666086;1721349;1760821;1846682;1854804;2145754;2152586;2156302;2160774;2176617;2182834;2182836;5037552 A006D27;Bda26a02;D10S2382;D8S2279;G20725;G59674;RH45203;RH46560;SHGC-144456;SHGC-30899;STS-N73831;WI-16761;WI-20224 FLJ13114;MGC125927;RP11-190J1.9 OTTHUMP00000020353;UPF0668 protein C10orf76;hypothetical protein LOC79591 protein-coding ENSG00000120029 HGNC:25788 12588 VALIDATED 1352905 C10orf82 chromosome 10 open reading frame 82 INTERACTS WITH copper(2+) sulfate; valproic acid 10 10 10 q25.3 112152637 112158902 - 118423207 118429765 - 116662211 116670254 - 737633;6480464 12477932 14702039;15489334;16189514;17207965;18976975 143379 K7EKP3;Q8WW14 ABBA01062954;AC016825;AK097587;AMYH02023874;BC021737;BX537582;CH471066;HC006798;NM_144661;XM_005269556;XM_005269557;XM_006717639;XM_006717640 AAH21737;ADQ32801;BAG53491;CBH19205;EAW49444;EAW49445;EAW49446;NP_653262;Q8WW14;XP_005269613;XP_005269614;XP_006717702;XP_006717703 Hs.121347 1681819;1848617;2126524;2173809;5015619;5024039;5037552;5092776 A006D08;D11S3114;D16S325;D8S2279;G32323;RH66653;RH94161;STS-AA026951 FLJ40268;MGC33547 OTTHUMP00000020565;hypothetical protein LOC143379;uncharacterized protein C10orf82 protein-coding ENSG00000165863 HGNC:28500 12592 PREDICTED 1354177 C10orf91 chromosome 10 open reading frame 91 INTERACTS WITH 17beta-estradiol 10 10 10 q26.3 127930059 127933170 + 134258714 134261825 + 132445210 132448321 + 737633;6480464 12477932 15164054;15489334;17207965;24024966 170393 Q5T1B1 ABBA01006184;AL451069;AMYH02024074;BC030794;BE909428;CH471287;LN608363;NM_173541 AAH30794;ADQ32800;EAW49118;EAW49119;NP_775812;Q5T1B1 Hs.375059 RP11-432J24.4;bA432J24.4 OTTHUMP00000020771;hypothetical protein LOC170393;uncharacterized protein C10orf91 protein-coding HGNC:27275 12557 VALIDATED 1313898 C10orf90 chromosome 10 open reading frame 90 ENCODES a protein that exhibits histone deacetylase binding (inferred); INVOLVED IN mitotic G2 DNA damage checkpoint (inferred); negative regulation of cell growth (inferred); protein stabilization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN actin cytoskeleton; centrosome; cytoplasm; INTERACTS WITH pirinixic acid (ortholog) 10 10 10 q26.2 121887866 121984246 - 128113566 128213444 - 126424997 126524875 - 6480464;8554872 12477932;14702039;15164054;15489334;16196087;20154723;20843368;20844083;22040499;23319000;24240685 118611 H7C3F8;Q5T025;Q96M02;S4R3N7;S4R3Q7 ABBA01034179;AF435960;AK057500;AK093093;AK297577;AK308357;AK309217;AL583860;AL589787;AL705062;AMYH02024004;AMYH02024005;BC021140;BC034828;BC140898;BC146869;CH471066;NM_001004298;XM_005269491;XM_005269492;XM_006717615 AAH21140;AAI40899;AAI46870;AAI56059;AAI56942;AAM20911;BAB71512;BAG59968;EAW49200;EAW49201;EAW49202;NP_001004298;Q96M02;XP_005269548;XP_005269549;XP_006717678 Hs.587663 1341134;1696118;1751053;7183993 D10S214;SHGC-104964;SHGC-78951 FATS;FLJ32938;RP11-422P15.2;bA422P15.2 OTTHUMP00000020729;OTTHUMP00000020731;OTTHUMP00000020732;centrosomal protein C10orf90;fragile-site associated tumor suppressor;fragile-site associated tumor suppressor homolog;hypothetical protein LOC118611 protein-coding ENSG00000154493 HGNC:26563 16587 VALIDATED 1312790 C10orf88 chromosome 10 open reading frame 88 ENCODES a protein that exhibits identical protein binding (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; ethyl methanesulfonate 10 10 10 q26.13 118396884 118420383 - 124690419 124713919 - 122930903 122954403 - 737633;6480464 12477932 14702039;15489334;16169070;17207965;18624398;20418485;21832049;21906983;24250222 80007 Q9H8K7 ABBA01062839;AC073585;AK023552;AMYH02023957;BC021705;BC032645;BI821345;CB044034;CH471066;NM_024942 AAH32645;ADQ31756;BAB14609;EAW49297;EAW49298;NP_079218;Q9H8K7 Hs.501286 1698194 RH102633 FLJ13490 OTTHUMP00000020667;hypothetical protein LOC80007;uncharacterized protein C10orf88 protein-coding ENSG00000119965 HGNC:25822 18531 VALIDATED 1349493 C10orf95 chromosome 10 open reading frame 95 INTERACTS WITH copper(2+) sulfate; diazinon; paracetamol 10 10 10 q24.32 97950507 97952213 - 104209594 104211300 - 102449837 102451543 - 6480464 12477932;14702039;15164054;15489334;23535732 79946 Q9H7T3 ABBA01063154;ABBA01063155;AK024342;AL121928;AMYH02023697;BC126459;CH471066;NM_024886 AAI26460;BAB14892;EAW49692;NP_079162;Q9H7T3 Hs.225084 2152993;5493359 RH48442;UniSTS:485839 FLJ14280 OTTHUMP00000020369;hypothetical protein LOC79946;uncharacterized protein C10orf95 protein-coding ENSG00000120055 HGNC:25880 10701 PREDICTED 1347638 C11orf16 chromosome 11 open reading frame 16 INTERACTS WITH (+)-catechin; amiodarone 11 11 11 p15.3 9061388 9074315 - 8941623 8954553 - 8920076 8933006 - 6480464 11528127;12477932;15489334;16189514;16344560;23455924;8125298;8889548 56673 E9PI19;E9PNY9;Q9NQ32 ABBA01061203;AC026894;AJ400877;AK074455;AK223377;AMYH02024299;BC027865;CA310676;CH471064;DA399415;NM_020643 AAH27865;BAD97097;CAB92289;EAW68611;EAW68612;EAW68613;NP_065694;Q9NQ32 Hs.277349 OTTHUMP00000230641;OTTHUMP00000230642;hypothetical protein LOC56673;uncharacterized protein C11orf16 protein-coding ENSG00000176029 HGNC:1169 12604 VALIDATED 1347494 C10orf93 chromosome 10 open reading frame 93 10 10 q26.3 128763297 128776265 + 134742689 134756089 - 12477932;14702039;15164054;15489334 255352 AA813184;AK098820;AL691429;BC044661;BC146900;BC146908;BX376477;CH471211;DR001134;NM_173572 AAH44661;AAI46901;AAI46909;BAC05424;CAI17263;CAI17264;EAW61310;NP_775843 Hs.375837 1782112 SHGC-155044 RP13-137A17.3;bB137A17.3 OTTHUMP00000020784;hypothetical protein LOC255352;uncharacterized protein LOC255352 protein-coding ENSG00000171811 HGNC:26382 12597 VALIDATED 1345294 C11orf1 chromosome 11 open reading frame 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH all-trans-retinoic acid; orphenadrine (ortholog) 11 11 11 q23.1 108903165 108908015 + 111749948 111754798 + 111879224 111884074 + 6480464;8554872 10873569;12477932;14702039;15489334;16169070;17207965;18029348 64776 E9PLN1;E9PMC1;E9PS33;E9PS93;Q9H5F2 ABBA01039811;AJ250229;AK027152;AMYH02025575;AP001781;BC020628;BC036892;CH471065;CR457378;GN341810;NG_029081;NM_022761 AAH20628;ADQ32215;BAB15674;CAB96538;CAG33659;CAY39324;EAW67160;NP_073598;Q9H5F2 Hs.17546 1774060;2116699;2186627;5014057;5015861;5015961;5016478;5020740;5024756;7185938 A008P41;D10S16;D15S1477;D1S3699;GDB:434012;L17809;RH18234;RH80030;SGC33774 FLJ23499 OTTHUMP00000234273;OTTHUMP00000234274;OTTHUMP00000234275;OTTHUMP00000234276;OTTHUMP00000234277;UPF0686 protein C11orf1;hypothetical protein LOC64776 protein-coding HGNC:1163 12601 VALIDATED 1347380 C11orf26 chromosome 11 open reading frame 26 79262 HGNC:14532 1343186 C11orf29 chromosome 11 open reading frame 29 83960 HGNC:15666 1323665 C11orf24 chromosome 11 open reading frame 24 FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; atrazine 11 11 11 q13 65362696 65374268 - 68028803 68039469 - 68261335 68272001 - 6480464 11401438;12477932;12975309;15489334;15498874;24312644 53838 E9PI63;E9PRU5;Q96F05 ABBA01024008;AF264781;AF370372;AMYH02025009;AP002813;AP002992;AY358754;BC011765;BG701401;BI862360;BX384793;CH471076;DB471655;NM_001300913;NM_022338;XM_005274053;XM_005274054 AAG36936;AAH11765;AAQ15208;AAQ89114;ADZ15751;EAW74702;EAW74703;EAW74704;NP_001287842;NP_071733;Q96F05;XP_005274110;XP_005274111 Hs.303025 1709710;2135270;2163601;2185635 RH17410;RH45838;SGC38070;SHGC-86344 DM4E3 OTTHUMP00000236022;OTTHUMP00000236024;hypothetical protein LOC53838;uncharacterized protein C11orf24 protein-coding ENSG00000171067 HGNC:1174 10704 610880 VALIDATED 1342639 C10orf99 chromosome 10 open reading frame 99 FOUND IN extracellular region (inferred); INTERACTS WITH ethyl methanesulfonate; fonofos; parathion 10 10 10 q23.1 79928477 79940052 + 85933511 85945050 + 84173755 84185294 + 6480464 12477932;12975309 387695 Q6UWK7 ABBA01003758;ABBA01003759;ABBA01003760;ABBA01003761;AC022389;AI831407;AMYH02023450;AW351839;AY358751;BC024215;CH471142;NM_207373;XM_005269811 AAQ89111;EAW80365;EAW80366;NP_997256;Q6UWK7;XP_005269868 Hs.298713;Hs.499145 1686881;2042242;5023453 REN92160;RH25555;SHGC-32086 FLJ21763;UNQ1833 OTTHUMP00000019995;RLLV1833;putative uncharacterized protein C10orf99 protein-coding ENSG00000188373 HGNC:31428 12599 VALIDATED 1343136 C11orf3 chromosome 11 open reading frame 3 q13 14702039;9286704;9615229 739 AK023941;AK093791 Hs.277517 ANG3 protein-coding HGNC:1175 1354141 C11orf21 chromosome 11 open reading frame 21 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred) 11 11 11 p15.5 2352383 2358017 - 2317507 2323143 - 2296277 2301913 - 8554872 11054561;12477932;23251661;24292274 29125 E9PAM5;Q9P2W6 AB029488;ABBA01032096;AC129929;AK290921;AK310172;AMYH02024188;AMYH02024189;BC028070;BI770361;NM_001142946;NR_024621 BAA89482;BAF83610;NP_001136418;Q9P2W6 Hs.559181 1801192;1805476;1806532;1810932;1813240;1828250;1831560;2092576;2092578;2092580;2092582;2092584;2092586;2092588;2092590;2092592;2092594;2092596;2092598;2092600;2092602;2092604;2092606;2092608;2092610;2092612;2092614;2092616;2092618;2092620;2092622;2092624;2092626;2092628;2092630;2092632;2092634;2092636;2092638;2216914;2216916;2216918;5119835 ECD01468;ECD03686;ECD04223;ECD06464;ECD07640;ECD15250;ECD16917;GDB:182522;REN117571;REN117572;REN117573;REN117574;REN117575;REN117576;REN117577;REN117578;REN117579;REN117580;REN117581;REN117582;REN117583;REN117584;REN117585;REN117586;REN117587;REN117588;REN117589;REN117590;REN117591;REN117592;REN117593;REN117594;REN117595;REN117596;REN117597;REN117598;REN117599;REN117600;REN117601;REN117602;stSG548805;stSG548806;stSG548808 OTTHUMP00000011323;OTTHUMP00000196041;hypothetical protein LOC29125;uncharacterized protein C11orf21 protein-coding HGNC:13231 611033 PREDICTED 1350055 C11orf32 chromosome 11 open reading frame 32 12477932;12970790;8619474 442871 BC040643;U90916 Hs.368592 protein-coding HGNC:21712 1605575 C11orf40 chromosome 11 open reading frame 40 INTERACTS WITH cadmium atom 11 11 11 p15.5 4716853 4723256 - 4592653 4599050 - 4571423 4577820 - 6480464 20237496 143501 Q8WZ69 ABBA01028640;AC090719;AF439154;AMYH02024244;CH471064;NM_144663 AAI52950;AAL31642;EAW68838;NP_653264;Q8WZ69 Hs.350556 NOV1 OTTHUMP00000229412;putative uncharacterized protein C11orf40;ro/SSA1-related protein protein-coding ENSG00000171987 HGNC:23986 17643 PREDICTED 1345109 C11orf30 chromosome 11 open reading frame 30 ENCODES a protein that exhibits protein homodimerization activity (inferred); INVOLVED IN chromatin modification (inferred); DNA repair (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; diazinon 11 11 11 q13.5 73463866 73570375 + 76155967 76263943 + 76444923 76552896 + 6480464;8554872 12477932;14651845;14702039;15302935;15489334;15947784;15978617;16029503;16145051;16236351;16615912;18314909;18393977;18587394;18787380;18950845;19124506;19131338;19349984;19471022;19636701;19760754;20349280;20379614;20453000;20503266;20508642;21064104;21072187;21102463;21327470;21409565;21693764;21906983;21987572;22036096;22070912;22315412;22505724;23042114;23752268;23817569;23817571;23886662;24250222;24582497 56946 E9PMC9;E9PPE6;H0YCS3;H0YDI4;H0YEP9;H0YET8;Q7Z589 ABBA01017449;AF226047;AI275430;AJ430203;AK023651;AK125114;AK126030;AK304043;AK304106;AK309621;AMYH02025128;AMYH02025129;AP002360;AP003165;AY070433;BC021688;BC029375;BC033404;BC117265;BC143370;BC143374;BC143376;BG722092;BX647398;CH471076;NM_001300942;NM_001300943;NM_001300944;NM_020193;XM_005274106;XM_005274108;XM_005274109;XM_005274112;XM_006718637;XM_006718638;XM_006718639 AAF86947;AAH29375;AAH33404;AAI17266;AAI43371;AAI43375;AAI43377;AAL65260;BAB14627;BAG54147;BAG54280;BAG64954;BAG65009;CAD22881;EAW74996;EAW74997;EAW74998;EAW74999;EAW75000;NP_001287871;NP_001287872;NP_001287873;NP_064578;Q7Z589;XP_005274163;XP_005274165;XP_005274166;XP_005274169;XP_006718700;XP_006718701;XP_006718702 Hs.352588 1654874;1670406;1677410;1680705;1697880;1854586;2115790;2120438;2125343;2176511;5022578;5024761;5109281 B291YH9;D11S4372;D11S493;D1S1423;D1S1425;RH102468;RH12113;RH36108;RH36905;RH91459;RH93961;SHGC-31396;SHGC-57297 EMSY;FLJ90741;GL002 OTTHUMP00000229238;OTTHUMP00000229239;OTTHUMP00000229240;OTTHUMP00000229241;OTTHUMP00000229242;OTTHUMP00000229289 protein-coding ENSG00000158636 HGNC:18071 10544 608574 VALIDATED 1602976 C11orf42 chromosome 11 open reading frame 42 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine 11 11 11 p15.4 6345882 6351444 + 6226798 6232365 + 6205568 6211135 + 8554872 12477932;15489334 160298 Q8N5U0 AA781757;ABBA01028663;AC022762;AMYH02024265;BC031612;CH471064;NM_173525 AAH31612;EAW68741;NP_775796;Q8N5U0 Hs.278221 MGC34805 OTTHUMP00000164534;hypothetical protein LOC160298;uncharacterized protein C11orf42 protein-coding ENSG00000180878 HGNC:28541 14590 VALIDATED 1606680 C11orf45 chromosome 11 open reading frame 45 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; genistein 11 11 11 q24.3 125937769 125943905 - 128769460 128776126 - 128899565 128906231 - 6480464;8554872 12477932;15489334;16344560;21832049 219833 Q8TAV5 ABBA01023015;AK125634;AK314137;AMYH02025767;AP000920;BC025756;BX956612;CH471065;DB219954;NG_023406;NM_001256088;NM_145013;NR_045767 AAH25756;ABM82570;ABM85759;BAG36827;BAG54227;EAW67728;EAW67729;EAW67730;NP_001243017;NP_659450;Q8TAV5 Hs.689860 FLJ43646;MGC35558 OTTHUMP00000230990;OTTHUMP00000230991;putative uncharacterized protein C11orf45 protein-coding ENSG00000174370 HGNC:28584 11344 VALIDATED 1601924 C11orf44 chromosome 11 open reading frame 44 FOUND IN extracellular region (inferred) 11 11 11 q24.3 127711742 127756135 + 130542851 130587247 + 130672956 130717352 + 14702039;23251661 283171 Q8N8P7 ABBA01023046;AK096377;AMYH02025793;AP003486;CH471065;LN608424;NM_001271983 BAC04771;EAW67791;NP_001258912;Q8N8P7 Hs.376151 1737707 D11S3304 FLJ39058 uncharacterized protein C11orf44 protein-coding HGNC:26805 08250 VALIDATED 1354417 C11orf31 chromosome 11 open reading frame 31 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. The exact function of this gene is not known, however, selenoproteins are thought to be responsible for most biomedical effects of dietary selenium. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54865438 54867599 + 57508722 57510883 + 57741250 57743411 + 737633;6480464 12477932 12775843;15489334;17337453;17389926;17526492;19766117;20656065;21048031;23220172;24816145 280636 H0YE28;Q8IZQ5 ABBA01021477;AF085883;AF536829;AJ276249;AJ276250;AMYH02024846;AP001931;BC021122;BC064570;BX493234;CH471076;NM_170746 AAH21122;AAN61472;EAW73781;EAW73782;NP_734467;Q8IZQ5 Hs.655373 1725705;1739601;1777157;2123346;2164896 D11S4051E;D11S4605;G62115;RH18244;SGC30725 C17orf10;SELH OTTHUMP00000235475;OTTHUMP00000235568;OTTHUMP00000235569;selenoprotein H APPROVED protein-coding ENSG00000211450 HGNC:18251 07447 607914 REVIEWED 1603865 C11orf47 chromosome 11 open reading frame 47 p15.4 12477932;14702039 283294 AC084337;AK093028;AK096944;BC111765;BX648742;NM_173589 AAI11766;BAC04023;NP_775860;Q2NKK8 Hs.377188 FLJ35709;MGC133191 protein-coding HGNC:26651 08184 1604761 C11orf52 chromosome 11 open reading frame 52 FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 11 11 11 q23.1 108942809 108950804 + 111789601 111797595 + 111918877 111926871 + 6480464 12477932;14702039;15489334;19056867;21832049;23602568 91894 E9PPX5;Q96A22 ABBA01039810;AK057948;AMYH02025576;AP000907;BC008501;BQ102454;CH471065;NG_009824;NM_080659 AAH08501;BAB71620;EAW67170;NP_542390;Q96A22 Hs.97013 FLJ25219;MGC131888;MGC14839 OTTHUMP00000234296;OTTHUMP00000234297;hypothetical protein LOC91894;uncharacterized protein C11orf52 protein-coding ENSG00000149300 HGNC:30531 14444 VALIDATED 1603055 C11orf54 chromosome 11 open reading frame 54 ENCODES a protein that exhibits hydrolase activity, acting on ester bonds; zinc ion binding; INVOLVED IN metabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; nucleus; INTERACTS WITH aflatoxin B1; benzo[a]pyrene diol epoxide I; calcitriol 11 11 11 q21 90766246 90787706 + 93474769 93496250 + 93741594 93763102 + 6480464;8554872 11230166;11256614;12477932;15489334;15498874;16189514;16522806;18781797;19056867;19060904;21139048;21832049;21906983;22505724;24654937;8125298 28970 A8K718;E9PIP1;E9PJU8;E9PLB3;E9PLC5;E9PPB5;E9PQS1;E9PR95;E9PSC3;Q9H0W9 AA864999;ABBA01040043;AF092133;AK129932;AK225977;AK291833;AK292215;AL136605;AL708049;AMYH02025366;AP001273;AY203960;BC007110;BC012298;BC046477;BI597310;BM551310;CH471065;CR533538;NM_001286067;NM_001286068;NM_001286069;NM_001286070;NM_001286071;NM_014039;XM_005273935;XM_006718824 AAD40375;AAH07110;AAH12298;AAP34483;ACE86551;ACE87233;BAF84522;BAF84904;CAB66540;CAG38569;EAW66915;EAW66916;EAW66917;EAW66918;EAW66919;NP_001272996;NP_001272997;NP_001272998;NP_001272999;NP_001273000;NP_054758;Q9H0W9;XP_005273992;XP_006718887 Hs.8360 1657058;1675389;1687393;2110683;5020740 L17809;PTD012_9567;RH46581;RH98894;STS-T40968 LP4947;PTD012;PTOD012 OTTHUMP00000235970;OTTHUMP00000235971;OTTHUMP00000235973;OTTHUMP00000235974;ester hydrolase C11orf54 protein-coding ENSG00000182919 HGNC:30204 17923 615810 VALIDATED 1604913 C11orf55 chromosome 11 open reading frame 55 p13 14702039 399879 Q6ZST8 AC087277;AK127155;NM_207428 BAC86858;NP_997311;Q6ZST8 Hs.99443 2109181 COMMD9_9578 FLJ45212 protein-coding HGNC:23262 13500 1605809 C11orf53 chromosome 11 open reading frame 53 11 11 11 q23.1 108279889 108310160 + 111126707 111156973 + 111255982 111286248 + 12477932;15489334;17207965;18753146;21832049;23455924 341032 Q8IXP5 ABBA01039824;AMYH02025570;AP002448;BC039669;CH471065;NM_198498 AAH39669;ADQ33056;EAW67135;NP_940900;Q8IXP5 Hs.298685 MGC50104 OTTHUMP00000233927;hypothetical protein LOC341032;uncharacterized protein C11orf53 protein-coding ENSG00000150750 HGNC:30527 14663 PREDICTED 1604290 C11orf49 chromosome 11 open reading frame 49 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus; INTERACTS WITH (+)-catechin; aflatoxin B1; benzo[a]pyrene 11 11 11 p11.2 47103848 47325170 + 46958240 47185932 + 46936689 47164381 + 6480464;8554872 11076863;11230166;12477932;14702039;15489334;15489336;16169070;16189514;16344560;16381901;16713569;17207965;18029348;20379614;21502573;21900206;21906983;21963094;21988832;24399259;8889548 79096 B4DUV7;E9PI12;E9PI28;E9PQA0;E9PQS2;H0YDE7;H0YDJ0;Q9H6J7 ABBA01060721;ABBA01060722;ABBA01060723;ABBA01060724;ABBA01060725;AC021573;AC090470;AC090589;AC103792;AK025863;AK293609;AK300813;AK315639;AK316318;AL136575;AMYH02024715;AMYH02024716;AMYH02024717;AMYH02024718;AMYH02024719;AMYH02024720;AMYH02024721;AMYH02024722;AMYH02024723;BC001860;BC009455;BC013988;BC052291;BI763384;BQ428072;BU728094;CH471064;CK724853;CR457351;DA374145;DA487960;DB027437;NM_001003676;NM_001003677;NM_001003678;NM_001278222;NM_024113;NR_103471;NR_103472;XM_006718315 AAH01860;AAH09455;AAH13988;AAH52291;ADQ31717;BAB15262;BAG57072;BAG62469;BAH14689;CAB66510;CAG33632;CAL38461;CAL38682;EAW67969;EAW67970;EAW67971;EAW67972;EAW67973;NP_001003676;NP_001003677;NP_001003678;NP_001265151;NP_077018;Q9H6J7;XP_006718378 Hs.368296 1650999;1679706;1685421;1701120;1768054;1768056;1854697;2134341;2140282;2146850;2161404;2163167;5114561 A002C04;AFM310VE1;D11S1085;D11S2039;D11S3969;D11S4059;D11S4709;G19914;RH104188;RH10546;RH66756;T03584;WI-14595 FLJ22210;MGC4707 OTTHUMP00000234069;OTTHUMP00000234070;OTTHUMP00000234071;OTTHUMP00000234073;UPF0705 protein C11orf49;hypothetical protein LOC79096 protein-coding ENSG00000149179 HGNC:28720 08332 VALIDATED 1353268 C11orf6 chromosome 11 open reading frame 6 9286704 742 HGNC:1178 1605695 C11orf58 chromosome 11 open reading frame 58 11 11 11 p15.1 16887272 16907025 + 16760148 16779901 + 16738601 16758354 + 12477932;14702039;15342556;15489334;15592455;16094384;16169070;17081983;17207965;19615732;21890473;21900206;21906983;21963094;21987572;22053931;22505724;22863883;22939629;23000965;24816145;9263035 10944 E9PM92;E9PQA1;E9PRZ9;O00193 ABBA01061082;ABBA01061083;AC026639;AK057169;AK093998;AK094549;AK315382;AMYH02024373;AMYH02024374;BC007103;BC016352;BC020937;BC103747;BP210918;BP226882;BU661194;BX648095;CH471064;CR456882;NM_014267;U51678 AAB99729;AAH07103;AAH16352;AAH20937;AAI03748;ADQ32805;BAG37775;CAG33163;EAW68455;EAW68456;EAW68457;NP_055082;O00193 Hs.645792 1679555;1683851;1684736;1685852;1688839;1699582;1725837;2173964;5015861;5015961;5022322;5022450;5037552;5094052;5117897;7185938 D10S16;D10S275;D11S2560;D15S1477;D8S2279;G34942;G62005;GDB:631813;RH103392;RH65290;RH66943;RH69440;RH70667;RH93893;STS-N24765 DKFZp686N0232;IMAGE145052;MGC117265;SMAP OTTHUMP00000231501;OTTHUMP00000231502;OTTHUMP00000231503;OTTHUMP00000231504;small acidic protein protein-coding HGNC:16990 18069 VALIDATED 1605379 C11orf57 chromosome 11 open reading frame 57 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH formaldehyde; hydrogen peroxide; theophylline 11 11 11 q23.1 109098159 109109066 + 111944968 111955874 + 112074244 112085150 + 6480464;8554872 12477932;14702039;15489334;17207965;17213182;19322201;21145461;21988832;23455922;8889548 55216 E9PKA8;E9PPH9;E9PQL5;E9PSC8;Q6ZUT1 AB096251;ABBA01039805;AK001588;AK094203;AK125340;AMYH02025583;AP000907;AP002007;BC005403;BC030546;BC048133;BC072455;BG115155;BM670479;BX538107;CD244552;CD706604;CH471065;DA813095;DT220380;EL736728;NM_001082969;NM_001082970;NM_001301017;NM_001301019;NM_001301021;NM_018195;NR_103469;XM_006718873;XM_006718874;XM_006718875;XM_006718876;XM_006718877 AAH05403;AAH30546;AAH48133;AAH72455;BAA91774;BAC86137;CAD98020;EAW67178;EAW67179;NP_001076438;NP_001076439;NP_001287946;NP_001287948;NP_001287950;NP_060665;Q6ZUT1;XP_006718936;XP_006718937;XP_006718938;XP_006718939;XP_006718940 Hs.195060 1669935;1676286;1677995;1683709;1688610;1715823;2136430;2144740;2148222;2153457;2158077;5016478;5022578;5022651;5037552 D11S2329E;D11S2921;D1S1423;D8S2279;GDB:434012;RH119608;RH64925;RH80714;RH91851;RH94303;RH94343;SHGC-53144;STS-N20376;WI-11979;WI-13525 FLJ10726 OTTHUMP00000196623;OTTHUMP00000196624;OTTHUMP00000234713;OTTHUMP00000234714;OTTHUMP00000234718;OTTHUMP00000234719;hypothetical protein LOC55216;uncharacterized protein C11orf57 protein-coding ENSG00000150776 HGNC:25569 07695 VALIDATED 1605626 C11orf63 chromosome 11 open reading frame 63 INVOLVED IN axoneme assembly (inferred); brain development (inferred); cerebrospinal fluid secretion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH lead diacetate (ortholog) 11 11 11 q24.1 119912750 119989824 + 122753236 122830430 + 122882528 122959722 + 6480464;8554872 11329013;12477932;14702039;15489334;19953087;20379614;21832049;23602568;23940030 79864 B3KUM2;Q6NUN7 ABBA01031278;AK027207;AK097534;AK291625;AMYH02025708;AMYH02025709;AP003040;AP004318;BC009820;BC068507;BG182647;BU069407;CD244380;CH471065;NM_024806;NM_199124;XM_005271679;XM_005271680;XM_005271681;XM_006718915;XR_428981 AAH09820;AAH68507;BAB15691;BAF84314;BAG53484;EAW67533;EAW67534;EAW67535;EAW67536;NP_079082;NP_954575;Q6NUN7;XP_005271736;XP_005271737;XP_005271738;XP_006718978 Hs.164705 1847133;5022578;5022635 D11S2750;D1S1423;DXS6735 FLJ23554 OTTHUMP00000231741;OTTHUMP00000231742;hypothetical protein LOC79864;uncharacterized protein C11orf63 protein-coding ENSG00000109944 HGNC:26288 08035 VALIDATED 1603171 C11orf65 chromosome 11 open reading frame 65 ASSOCIATED WITH Ataxia Telangiectasia (inferred); Ataxia-Telangiectasia Variant (inferred); Neoplastic Syndromes, Hereditary (inferred) 11 11 11 q22.3 105408665 105493182 - 108179012 108338258 - 108331550 108467531 - 8554872 12477932;15489334;16189514;16344560;17207965;19692168;21186350;21845381 160140 B4DZU4;E9PQ22;H0YD27;Q8NCR3 ABBA01039865;ABBA01039866;ABBA01039867;ABBA01039868;AK303096;AMYH02025549;AMYH02025550;AMYH02025551;AMYH02025552;AP005718;BC029536;CH471065;DB104722;NM_152587;XM_005271412;XM_005271413;XM_005271414;XM_005271415 AAH29536;ADQ32314;BAG64206;EAW67116;EAW67117;EAW67118;NP_689800;Q8NCR3;XP_005271469;XP_005271470;XP_005271471;XP_005271472 Hs.653180 1341224;1675834;1771108;2111816;2133951;7185380 D11S1778;D11S4498;D11S535;RH68683;SGC35029 MGC33948 OTTHUMP00000233034;OTTHUMP00000233297;hypothetical protein LOC160140;uncharacterized protein C11orf65 protein-coding ENSG00000166323 HGNC:28519 14579 VALIDATED 1604001 C11orf71 chromosome 11 open reading frame 71 INTERACTS WITH cadmium dichloride (ortholog); dibutyl phthalate (ortholog); diethylstilbestrol (ortholog) 11 11 11 q23.2 111415112 111424085 - 114262170 114271272 - 114391448 114400550 - 6480464 12477932;14702039;15489334;17207965;21804549;21832049;21988832;24250222 54494 Q6IPW1 ABBA01039770;AK000017;AMYH02025602;AP002373;BC009041;BC071695;CH471065;CR457222;HY013971;NM_001271562;NM_019021 AAH09041;AAH71695;ADQ31939;BAA90886;CAG33503;EAW67245;NP_001258491;NP_061894;Q6IPW1 Hs.715083 1685928;1771929;2131054;2162879 RH99159;SHGC-36830;STS-H59141;STS-N34855 FLJ20010 OTTHUMP00000238389;hypothetical protein LOC54494;uncharacterized protein C11orf71 protein-coding ENSG00000180425 HGNC:25937 07874 VALIDATED 1602657 C11orf69 chromosome 11 open reading frame 69 p13 12477932;14702039;15489334 120196 Q8TAY4 AK094307;AL049629;BC025668;CH471064;NM_152314 AAH25668;EAW68195;NP_689527;Q8TAY4 Hs.22270 MGC34830 protein-coding HGNC:28545 14593 1601925 C11orf72 chromosome 11 open reading frame 72 q13.2 12477932;14702039;15489334 283135 Q8NBR9 AK075315;AP003385;BC104448;BC104449;CH471076;CQ783922;NM_173578 AAI04449;AAI04450;BAC11541;CAF86926;EAW74651;NP_775849;Q8NBR9 Hs.382074 2135126;2154732 D11S2245E;STS-N93261 FLJ90834;MGC129824;MGC129825 protein-coding HGNC:26915 08302 1605606 C11orf70 chromosome 11 open reading frame 70 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,4-dichloroaniline; arsane; arsenic atom 11 11 11 q22.1 99079748 99116853 + 101918147 101955291 + 102047416 102084560 + 6480464;8554872 12477932;14702039;15489334;21145461 85016 E9PM77;H0YCT8;Q7Z2V0;Q9BRQ4 ABBA01039949;ABBA01039950;ABBA01039951;ABBA01039952;AK094851;AMYH02025477;AP001527;BC006128;BC054869;BG700929;CH471065;NM_001195005;NM_032930;XM_005271713;XM_006718929 AAH06128;AAH54869;EAW67009;EAW67010;NP_001181934;NP_116319;Q9BRQ4;XP_005271770;XP_006718992 Hs.98328 1675648;5022649 D11S2875;RH98419 MGC13040 OTTHUMP00000235690;OTTHUMP00000235691;OTTHUMP00000235692;hypothetical protein LOC85016;uncharacterized protein C11orf70 protein-coding ENSG00000137691 HGNC:28188 14433 VALIDATED 1602858 C11orf68 chromosome 11 open reading frame 68 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH benzo[a]pyrene diol epoxide I; cisplatin; cobalt dichloride 11 11 11 q13.1 63008205 63010455 - 65684281 65686531 - 65916810 65919060 - 6480464 12477932;15489334;16169070;16189514;16511166;17207965;20360068;21139048;21900206;8889548 83638 Q9H3H3 ABBA01024097;AF073483;AMYH02024966;AP006287;BC004414;BC010512;BC013185;BM705907;CH471076;CX866110;NM_001135635;NM_031450 AAG43171;AAH04414;AAH10512;AAH13185;ADQ31656;EAW74470;EAW74471;NP_001129107;NP_113638;Q9H3H3 Hs.433573 1858198;2142411 D11S4689;WI-17663 BLES03;P5326 OTTHUMP00000211566;OTTHUMP00000234042;UPF0696 protein C11orf68;basophilic leukemia expressed protein BLES03;basophilic leukemia-expressed protein Bles03 protein-coding ENSG00000175573 HGNC:28801 12553 VALIDATED 1604822 C11orf73 chromosome 11 open reading frame 73 ENCODES a protein that exhibits Hsp70 protein binding; protein transporter activity; INVOLVED IN cellular response to heat; protein import into nucleus; protein transport; FOUND IN cell junction; cytosol; extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; copper(2+) sulfate 11 11 11 q14.2 83323908 83367617 + 86013253 86056985 + 86302211 86345943 + 6480464 11042152;12477932;14702039;15489334;19734545;21139048;21832049;22541429;8125298;8889549 51501 E9PJB2;E9PPG8;Q53FT3 AA148558;ABBA01017322;ABBA01017323;AF151082;AF161487;AF161527;AK001447;AK125010;AK223198;AK298763;AMYH02025231;AP001148;BC001677;BC006476;BC015991;BC018080;BC021621;BE858273;BP423222;BX332668;CH471076;KF455427;KF455435;NM_016401;NR_024596;NR_024597;NR_024598;XM_006718582;XM_006718583;XM_006718584 AAF29102;AAF29142;AAF36168;AAH01677;AAH06476;AAH15991;AAH18080;AAH21621;ABM83657;ABM86903;BAA91698;BAD96918;BAG60905;EAW75133;EAW75134;EAW75135;EAW75136;EAW75137;NP_057485;Q53FT3;XP_006718645;XP_006718646;XP_006718647 Hs.283322 1797078;2161120 AW465254;RH46883 FLJ43020;HSPC138;HSPC179;L7RN6;OPI10 Hikeshi;OTTHUMP00000235491;OTTHUMP00000235492;lethal, Chr 7, Rinchik 6;uncharacterized protein C11orf73 protein-coding ENSG00000149196 HGNC:26938 13701 614908 VALIDATED 1625825 C11orf81 chromosome 11 open reading frame 81 p15.5 100073348 AK124467;AK124948 BAC85857;BAC86004;Q6ZV59;Q6ZVK4 Hs.595642;Hs.595659 FLJ42958 protein-coding HGNC:33489 1605958 C11orf80 chromosome 11 open reading frame 80 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH cadmium atom; calcitriol; copper(2+) sulfate 11 11 11 q13.2 63839232 63954092 + 66512207 66613997 + 66744736 66843516 + 6480464;8554872 12477932;18160775;21906983;21926972;8125298 79703 B4DXL1;E9PIE7;E9PJS1;E9PKM2;E9PMI8;E9PMU2;E9PNG9;H0YD22;H0YD55;H0YDL3;H0YE21;Q8N6T0 ABBA01024061;ABBA01024062;ABBA01024063;ABBA01024064;AK026184;AK225435;AK302025;AMYH02024980;AMYH02024981;AMYH02024982;AP000485;AP001157;BC028240;BE676873;BI559574;CH471076;KC877430;NM_001302084;NM_024650;NR_048553 AAH28240;ADZ16029;BAB15387;BAG63423;EAW74562;EAW74563;NP_001289013;NP_078926;Q8N6T0 Hs.292088 1668178;1682049;1683259;1742561;1748401;1751473;1756913;1852576;2152544;2153975;2219470 D19Ertd98e;GDB:197884;PC;PC__5832;RH16038;RH46345;RH65295;RH98933;SHGC-105288;SHGC-144078;SHGC-30028 FLJ22531 OTTHUMP00000235640;OTTHUMP00000235643;putative uncharacterized protein C11orf80 protein-coding HGNC:26197 07993 VALIDATED 1603277 C11orf74 chromosome 11 open reading frame 74 This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 11 11 11 p12 36768524 36833247 + 36616043 36680841 + 36594432 36673273 + 6480464;8554872 12107413;12477932;12766061;14702039;16157265;17207965;18433331;19773279;21382349;21478494;21988832;8889548 119710 A8K468;B4DSA3;B4DYW4;E9PJ48;E9PL16;E9PPH4;Q86VG3 ABBA01060845;AC139427;AK095997;AK290833;AK299642;AK302634;AMYH02024611;BC009561;BC051031;BI831382;BM670168;BQ018679;CD101968;CD674194;CD678640;CH471064;DQ121386;HY051439;NG_033154;NM_001276722;NM_001276723;NM_001276724;NM_001276725;NM_001276726;NM_001276727;NM_138787;NR_077243;XM_006718138;XR_428839 AAH09561;AAH51031;AAZ29248;ADQ33126;ADZ15982;BAF83522;BAG61565;BAG63876;EAW68112;EAW68113;EAW68114;EAW68115;EAW68116;NP_001263651;NP_001263652;NP_001263653;NP_001263654;NP_001263655;NP_001263656;NP_620142;Q86VG3;XP_006718201 Hs.159376 1763363;1791318;2158880;2190819 D11S4272;PMC102178P2;RAG2;SHGC-147088 FLJ38678 HEPIS;OTTHUMP00000232798;OTTHUMP00000232799;hypothetical protein LOC119710;uncharacterized protein C11orf74 protein-coding ENSG00000166352 HGNC:25142 14019 REVIEWED 2298933 C11orf86 chromosome 11 open reading frame 86 11 11 11 q13.2 64071255 64072980 + 66742754 66744479 + 66975283 66977008 + 21926972 254439 A6NJI1 ABBA01024054;AK026328;AMYH02024984;AP003176;NM_001136485 A6NJI1;NP_001129957 Hs.232604 FLJ22675 OTTHUMP00000204297;hypothetical protein LOC254439;uncharacterized protein C11orf86 protein-coding ENSG00000173237 HGNC:34442 PREDICTED 1604186 C11orf85 chromosome 11 open reading frame 85 11 11 11 q13.1 62031898 62065337 - 64705702 64739565 - 64938230 64972093 - 12477932;14702039 283129 B3KS99;E9PPE5;E9PRZ4;H0YEC1;Q3KP22 ABBA01024138;ABBA01024139;AK093130;AMYH02024946;AMYH02024947;AMYH02024948;AP000436;AP001187;BC033501;BC106951;BC106952;CH471076;DB445650;HY050994;NM_001037225;NM_001300803;XM_005273918;XM_005273920;XM_006718502;XM_006718503;XM_006718504;XM_006718505;XM_006718506 AAI06952;AAI06953;BAG52661;EAW74328;NP_001032302;NP_001287732;Q3KP22;XP_005273975;XP_005273977;XP_006718565;XP_006718566;XP_006718567;XP_006718568;XP_006718569 Hs.567793 1648536;1684491;1709622;2124233 G33093;G33094;RH92578;SHGC-85173 MGC126364 OTTHUMP00000230539;hypothetical protein LOC283129;uncharacterized protein C11orf85 protein-coding ENSG00000168070 HGNC:27441 18761 VALIDATED 1604233 C11orf84 chromosome 11 open reading frame 84 INTERACTS WITH paracetamol; valproic acid; zinc atom 11 11 11 q13.1 60906819 60921088 + 63580846 63595190 + 63813374 63827718 + 6480464 12477932;17207965;18271526;19471022;20462248;21252943;21693764;22554406;23246001;24163370;24337577;24654937;24816145 144097 H0YGK9;H0YGY5;Q9BUA3 ABBA01003271;AMYH02024919;AMYH02024920;AP006289;BC002782;BC007540;BC056402;CH471076;CR749697;NM_138471;XM_005273782;XM_005273783;XM_005273784;XM_006718437 AAH02782;AAH07540;AAH56402;ADQ33061;CAH18477;EAW74172;NP_612480;Q9BUA3;XP_005273839;XP_005273840;XP_005273841;XP_006718500 Hs.502793 1679111 RH92977 DKFZp762N0114 OTTHUMP00000236746;hypothetical protein BC007540;hypothetical protein LOC144097;uncharacterized protein C11orf84 protein-coding ENSG00000168005 HGNC:25115 14064 PREDICTED 1604683 C11orf87 chromosome 11 open reading frame 87 FOUND IN integral component of membrane (inferred); INTERACTS WITH trichostatin A; valproic acid 11 11 11 q22.3 106447057 106454104 + 109292570 109299893 + 109421844 109429167 + 6480464 12477932;14702039;16344560;23602568 399947 Q6NUJ2 AB096240;ABBA01039849;AK091086;AK303693;AMYH02025563;AP000775;BC035798;BC068577;CH471065;DA221578;DA232989;NM_207645;XM_005271544 AAH35798;AAH68577;BAG64681;EAW67125;NP_997528;Q6NUJ2;XP_005271601 Hs.172982 1655103;2159044;2162976;2172180;2172182 2042;A006D24;G20722;RH66482;WI-12221 FLJ33767;LOH11CR1A;NEURIM1 OTTHUMP00000233418;hypothetical protein LOC399947;neuronal integral membrane protein 1;uncharacterized protein C11orf87 protein-coding ENSG00000185742 HGNC:33788 14218 VALIDATED 2301118 C11orf91 chromosome 11 open reading frame 91 INTERACTS WITH 6-propyl-2-thiouracil (ortholog); dibutyl phthalate (ortholog); methimazole (ortholog) 11 11 11 p13 33867158 33869790 - 33719654 33722286 - 33698108 33700740 - 6480464 11181995 100131378 H0YDE1;Q3C1V1 AB231759;AB231760;ABBA01060883;ABBA01060884;AL049629;AMYH02024574;CH471064;NM_001166692 BAE46895;BAE46896;EAW68194;NP_001160164;Q3C1V1 Hs.709466 OTTHUMP00000232606;hypothetical protein LOC100131378;uncharacterized protein C11orf91 protein-coding HGNC:34444 VALIDATED 1602158 C11orf88 chromosome 11 open reading frame 88 11 11 11 q23.1 108538699 108560942 + 111385510 111407756 + 111514785 111537031 + 6480464 12477932 399949 E9PN74;H0YE60;Q6PI97 ABBA01039819;AI829856;AK128145;AMYH02025573;AP002008;BC039505;CH471065;NM_001100388;NM_207430 AAH39505;BAC87297;EAW67142;NP_001093858;NP_997313;Q6PI97 Hs.411600 2111778 D11S4475 FLJ46266 OTTHUMP00000234048;OTTHUMP00000234049;OTTHUMP00000234050;UPF0722 protein C11orf88;hypothetical gene supported by BC039505;hypothetical protein LOC399949 protein-coding ENSG00000183644 HGNC:25061 13529 VALIDATED 4108561 C11orf96 chromosome 11 open reading frame 96 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; aflatoxin B1 11 11 11 p11.2 44109952 44111266 + 43964106 43965433 + 43942556 43943883 + 6480464 12477932 387763 E9PKL4;Q7Z7L8 ABBA01060773;ABBA01060774;AC087521;AMYH02024680;BC052560;NM_001145033 AAH52560;NP_001138505;Q7Z7L8 Hs.530443 1682073 RH93880 AG2 OTTHUMP00000233416;protein Ag2 homolog;uncharacterized protein C11orf96 protein-coding ENSG00000187479 HGNC:38675 VALIDATED 7821812 C11orf97 chromosome 11 open reading frame 97 INTERACTS WITH 6-propyl-2-thiouracil (ortholog); methimazole (ortholog) 11 11 11 q21 91533505 91553099 + 94245695 94265289 + 94512529 94532123 + 6480464 20379614 643037 ABBA01040027;ABBA01040028;ABBA01040029;AMYH02025373;AP000943;HG504102;KF455449;KF455450;NM_001190462 NP_001177391 Hs.97691 LINC01171;RP11-867G2.2 long intergenic non-protein coding RNA 1171;uncharacterized protein LOC643037 APPROVED protein-coding HGNC:49544 VALIDATED 9587562 C11orf98 chromosome 11 open reading frame 98 11 q12.3 62662817 62665216 - 15146197 102288414 ABBA01003235;AMYH02024895;AMYH02024896;AP001458;BF207356;BG563566;BG681685;BQ231052;BX107288;CN256679;NM_001286086;NR_104414 NP_001273015 Hs.9061 C11orf48 uncharacterized protein LOC102288414 protein-coding ENSG00000278615 HGNC:51238 VALIDATED 3543119 C11orf94 chromosome 11 open reading frame 94 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 6-propyl-2-thiouracil (ortholog); methimazole (ortholog) 11 11 11 p11.2 46075690 46076438 - 45928085 45928833 - 45906534 45907282 - 6480464;8554872 11181995 143678 C9JXX5 ABBA01060758;AC068385;AMYH02024693;CH471064;CS110276;CS441543;LN608380;NG_012153;NM_001080446 C9JXX5;CAJ09917;CAL68853;EAW68025;NP_001073915 Hs.193741 1700176 RH103702 OTTHUMP00000234738;hypothetical protein LOC143678;uncharacterized protein C11orf94 protein-coding ENSG00000234776 HGNC:37213 VALIDATED 2910589 C11orf95 chromosome 11 open reading frame 95 INTERACTS WITH cyclosporin A; paracetamol; valproic acid 11 11 11 q13 60853238 60859651 - 63527364 63536113 - 63759892 63768641 - 6480464 12477932;14702039;20607705;21274402;23672313 65998 C9JLR9 AB231750;AB231751;AB231752;ABBA01003264;ABBA01003265;ABBA01003266;AK096306;AMYH02024918;AP006289;BC000572;BC021866;BC033262;BC065479;NM_001144936 BAE46893;C9JLR9;NP_001138408 Hs.191073 1658131;1786238 D7S2862;SHGC-132011 MGC3032;RP11-466C23.3 hypothetical protein LOC65998;uncharacterized protein C11orf95 protein-coding ENSG00000188070 HGNC:28449 615699 PREDICTED 1351175 C12orf15 chromosome 12 open reading frame 15 404282 HGNC:31383 1350875 C12orf10 chromosome 12 open reading frame 10 INVOLVED IN locomotory exploration behavior (inferred); FOUND IN extracellular vesicular exosome; mitochondrion; nucleus; INTERACTS WITH tunicamycin; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 q13 53342755 53350242 + 53693132 53700965 + 53299686 53307181 + 6480464 12477932;15146197;15231748;16263121;16996721;17207965;18624398;18781797;19014353;20377893;21139048;21693764;22505724;22863883;22939629;23706493 60314 F8VQQ3;F8VR84;H3BPH3;Q86UA3;Q9HB07 AA972697;ABBA01008325;AC073611;AF111805;AF289485;AK293449;AMYH02026517;BC013956;BC028904;BC051871;BM551107;CH471054;CN308888;NM_021640 AAG17847;AAH13956;AAH28904;AAH51871;AAL39007;ADQ33071;ADZ15817;BAG56948;EAW96687;EAW96688;EAW96689;EAW96690;NP_067653;Q9HB07 Hs.655988 1659302;1672010;1736262;2146252;2149106 D12S1190E;D12S1220E;RH11320;RH15738;SHGC-31943 Gamm1;MST024;MSTP024;MYG;MYG1 OTTHUMP00000242634;OTTHUMP00000242636;OTTHUMP00000242637;UPF0160 protein MYG1, mitochondrial;melanocyte proliferating gene 1;melanocyte related protein-coding ENSG00000139637 HGNC:17590 10705 611366 VALIDATED 1606480 C12orf29 chromosome 12 open reading frame 29 INVOLVED IN hematopoietic progenitor cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; methyl methanesulfonate; valproic acid 12 12 12 q21.32 88097282 88111951 + 88429268 88443937 + 88035491 88050160 + 6480464;8554872 11076863;11230166;12477932;14702039;15489336;16381901;21139048;21890473;21963094;24654937;24816145 91298 G3V1X7;Q8N999 ABBA01053428;AC091516;AK095477;AK311153;AK311222;AL049382;AL137488;AMYH02026897;BC035136;BC058014;BC092422;BX537868;BX640968;BX648026;CH471054;CR936776;NM_001009894 AAH35136;AAH58014;AAH92422;BAC04555;CAB70767;CAD97870;CAE45983;CAH10541;CAL37802;EAW97409;EAW97410;EAW97411;EAW97412;NP_001009894;Q8N999 Hs.591009 1653957;1674616;1686708;2118522 RH15617;RH77897;RH77993;WI-22205 DKFZp313K0436;DKFZp434N2030;DKFZp686L04169;FLJ38158;MGC102978 OTTHUMP00000242335;hypothetical protein LOC91298;uncharacterized protein C12orf29 protein-coding ENSG00000133641 HGNC:25322 13199 VALIDATED 1606876 C12orf42 chromosome 12 open reading frame 42 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH arsenite(3-) 12 12 12 q23.2 103359877 103553591 - 103631369 103889788 - 103237591 103496010 - 6480464;8554872 12477932;14702039;15489334;16344560;20379614;20659153;21878436 374470 F8VV63;F8VX61;F8W1Y6;Q96LP6 AA992269;ABBA01053216;ABBA01053217;ABBA01053218;ABBA01053219;ABBA01053220;ABBA01053221;AC068643;AC084364;AC090000;AC126176;AK058052;AMYH02027080;AMYH02027081;AMYH02027082;BC039352;BC044617;BC117392;BC117394;BI830750;CH471054;DB027973;DB045383;HY002043;HY015666;HY193513;NM_001099336;NM_001278419;NM_001278420;NM_198521;NR_103526;XM_006719377;XM_006719378;XM_006719379;XM_006719380;XM_006719381 AAH44617;AAI17393;AAI17395;ADR83362;BAB71641;EAW97704;EAW97705;EAW97706;EAW97707;EAW97708;EAW97709;NP_001092806;NP_001265348;NP_001265349;NP_940923;Q96LP6;XP_006719440;XP_006719441;XP_006719442;XP_006719443;XP_006719444 Hs.534649 1697698;1718437 RH102365;RH123234 FLJ25323;MGC43592;MGC57409 OTTHUMP00000242560;OTTHUMP00000242657;hypothetical protein LOC374470;uncharacterized protein C12orf42 protein-coding ENSG00000179088 HGNC:24729 13393 VALIDATED 1603965 C12orf43 chromosome 12 open reading frame 43 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; uranium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 q24.31 121076267 121090198 - 121440835 121454300 - 121002422 121016502 - 6480464;8554872 12477932;14702039;15342556;15489334;16344560;17081983;18940312;19198612;21044950;21203500;22939635;24816145;8125298;8619474;9110174 64897 B4DRA4;B4DWJ9;E7ENF1;F5H2A0;F5H3K2;F5H7W8;F5H8B7;G5EA44;H0YF83;H0YGK4;Q96C57 ABBA01020149;AC079602;AK022510;AK222630;AK225162;AK299170;AK301566;AK307971;AMYH02027387;BC014661;BP201132;BP343829;CH471054;DA014862;DC297725;NM_001286191;NM_001286192;NM_001286195;NM_001286196;NM_001286197;NM_001286198;NM_022895;NR_104409 AAH14661;BAB14068;BAD96350;BAG61216;BAG63061;EAW98229;EAW98230;EAW98231;EAW98232;EAW98233;NP_001273120;NP_001273121;NP_001273124;NP_001273125;NP_001273126;NP_001273127;NP_075046;Q96C57 Hs.528671 5022383 ECD04345 FLJ12448 OTTHUMP00000240207;OTTHUMP00000240208;OTTHUMP00000240209;OTTHUMP00000240210;OTTHUMP00000240211;OTTHUMP00000240212;OTTHUMP00000240213;hypothetical protein LOC64897;uncharacterized protein C12orf43 protein-coding ENSG00000157895 HGNC:25719 07771 VALIDATED 1322478 C12orf4 chromosome 12 open reading frame 4 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 1-chloro-2,4-dinitrobenzene; 4-(ethoxymethylene)-2-phenyloxazol-5-one; atrazine 12 12 12 p13.3 6218946 6269682 - 4596899 4647674 - 4487733 4538508 - 6480464;8554872 11062477;12477932;15489334;20558539;21139048;21890473;21906983;21963094;25122211 57102 F5GXX6;F5H271;F5H744;H0YGS6;Q9NQ89 ABBA01048764;AC005832;AC008012;AC092826;AJ272205;AK024811;AK074479;AL834377;AMYH02025925;AMYH02025926;AMYH02025927;BC016908;BX641128;CH471116;NM_020374;XM_005253716;XM_006718992 AAH16908;ADZ15508;CAC01126;CAD39040;CAE46058;EAW88845;EAW88846;NP_065107;Q9NQ89;XP_005253773;XP_006719055 Hs.302977 1665600;1674974;1682097;2168235;2191159 MARC_15597-15598:1013621652:1;RH66493;WI-15553;WI-17772;WI-17773 FLJ21158;FLJ23899 OTTHUMP00000238409;OTTHUMP00000238410;hypothetical protein LOC57102;uncharacterized protein C12orf4 protein-coding ENSG00000047621 HGNC:1184 12609 PROVISIONAL 1606924 C12orf40 chromosome 12 open reading frame 40 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 12 12 12 q12 38824188 38919753 + 40019972 40115716 + 39626170 39721914 + 8554872 12477932;14702039 283461 Q86WS4 ABBA01049534;ABBA01049535;ABBA01049536;ABBA01049537;ABBA01049538;AC121336;AC125491;AK097445;AL705293;AMYH02026333;BC038754;BC048120;BI461967;CH471111;EU668334;NM_001031748;XM_005268806;XM_006719358;XR_245921 AAH38754;AAH48120;ACF94487;BAC05057;EAW57808;EAW57809;EAW57810;NP_001026918;Q86WS4;XP_005268863;XP_006719421 Hs.648205 1671906 DXS7407 FLJ40126;HEL-206 OTTHUMP00000164934;OTTHUMP00000164935;epididymis luminal protein 206;hypothetical protein LOC283461;uncharacterized protein C12orf40 protein-coding ENSG00000180116 HGNC:26846 08806 VALIDATED 1606744 C12orf45 chromosome 12 open reading frame 45 INTERACTS WITH aflatoxin B1; benzo[a]pyrene; calcitriol 12 12 12 q23.3 105044774 105053181 + 105380098 105388505 + 104986320 104994727 + 6480464 12477932;15489334;17643375;21988832;24250222;24816145 121053 J3KN91;Q8N5I9 ABBA01053189;AC090051;AMYH02027106;BC032326;BG829346;CH471054;NM_152318 AAH32326;ABM82575;ABM85764;EAW97754;NP_689531;Q8N5I9 Hs.295563 MGC40397 OTTHUMP00000242209;OTTHUMP00000242210;hypothetical protein LOC121053;uncharacterized protein C12orf45 protein-coding ENSG00000151131 HGNC:28628 17556 VALIDATED 1602859 C12orf49 chromosome 12 open reading frame 49 FOUND IN extracellular region (inferred); INTERACTS WITH calcitriol; cyclosporin A; testosterone 12 12 12 q24.22 116783149 116805394 - 117151289 117175868 - 116713603 116738063 - 6480464 12477932;19322201 79794 F8VPB4;F8VVN2;H0YHS8;Q9H741 ABBA01020022;AC090013;AC125603;AK025068;AK222983;AK298857;AK309652;AMYH02027299;BC019843;CH471054;NM_024738;XM_005253937 AAH19843;BAB15058;BAD96703;BAH12886;EAW98088;EAW98089;NP_079014;Q9H741;XP_005253994 Hs.592011 1681302 RH65029 FLJ21415 OTTHUMP00000240981;UPF0454 protein C12orf49;hypothetical protein LOC79794 protein-coding HGNC:26128 07962 PREDICTED 1605567 C12orf50 chromosome 12 open reading frame 50 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 12 12 12 q21.32 88041830 88091190 - 88373816 88423176 - 87980039 88029399 - 8554872 12477932;14702039;17207965;20379614;22632162 160419 F8VSD7;F8VXH4;Q8NA57 ABBA01053428;AC090060;AC091516;AK093140;AL833338;AMYH02026897;BC038413;BC062424;CH471054;HC006980;KF455695;NM_152589;XM_005268685;XM_005268686;XM_005268687 AAH38413;AAH62424;ADQ32974;BAC04071;CBH19295;EAW97406;EAW97407;EAW97408;NP_689802;Q8NA57;XP_005268742;XP_005268743;XP_005268744 Hs.112930 1715463;5015609;5016403;5022637 D11S2766;D11S3026;G02304;RH120896 FLJ35821 OTTHUMP00000242331;OTTHUMP00000242332;OTTHUMP00000242333;hypothetical protein LOC160419;uncharacterized protein C12orf50 protein-coding ENSG00000165805 HGNC:26665 08764 PROVISIONAL 1603368 C12orf56 chromosome 12 open reading frame 56 INTERACTS WITH trichostatin A; valproic acid 12 12 12 q14.2 64326691 64449194 - 64660763 64784345 - 64266983 64390565 - 6480464 12477932;20379614;24324551 115749 H0YGI1;Q8IXR9 ABBA01026604;ABBA01026605;ABBA01026606;ABBA01026607;ABBA01026608;ABBA01026609;ABBA01026610;AC012158;AC135279;AMYH02026658;AMYH02026659;AMYH02026660;AMYH02026661;AMYH02026662;BC014352;BC015121;BC039369;BX089271;NM_001099676;NM_001170633 AAH39369;NP_001093146;NP_001164104;Q8IXR9 Hs.535190 OTTHUMP00000239446;OTTHUMP00000239447;hypothetical protein LOC115749;uncharacterized protein C12orf56 protein-coding HGNC:26967 VALIDATED 1606175 C12orf54 chromosome 12 open reading frame 54 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; arsenite(3-); ethyl methanesulfonate 12 12 12 q13.11 47672318 47686326 + 48876283 48890297 + 48482500 48496514 + 6480464;8554872 12477932;15489334 121273 C9IYT5;H0YIT5;Q6X4T0 ABBA01031481;AC089987;AMYH02026422;AY255793;AY255794;BC031670;BF510008;BQ429029;CH471111;HC007156;KF459679;NM_152319;XM_005268635;XM_005268636;XM_006719232;XM_006719233;XR_245893 AAH31670;AAP15250;AAP15251;CBH19383;EAW57984;EAW57985;EAW57986;NP_689532;Q6X4T0;XP_005268692;XP_005268693;XP_006719295;XP_006719296 Hs.98202 1682243;1714429 RH120207;RH92571 HSD-29;HSD-30;MGC35033 OTTHUMP00000242624;hypothetical protein LOC121273;uncharacterized protein C12orf54 protein-coding ENSG00000177627 HGNC:28553 14596 VALIDATED 1606152 C12orf60 chromosome 12 open reading frame 60 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; quercetin 12 12 12 p12.3 20101493 20121778 + 14955997 14976792 + 14803063 14823858 + 6480464;8554872 12477932;14702039;15489334;23449627 144608 Q5U649 ABBA01067886;AC007655;AK056213;AK289942;AMYH02026095;BC015546;BC029443;BC038836;CH471094;NM_175874;XM_005253322;XM_005253323 AAH15546;AAH29443;AAH38836;BAF82631;EAW96330;NP_787070;Q5U649;XP_005253379;XP_005253380 Hs.659951 1698388;2143264;2190885;5022200 G41310;L18426;MARC_10307-10308:998934573:1;RH102736 FLJ31651;MGC47869 OTTHUMP00000236005;hypothetical protein LOC144608;uncharacterized protein C12orf60 protein-coding HGNC:28726 11358 VALIDATED 1317526 C12orf5 chromosome 12 open reading frame 5 This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008] 12 12 12 p13.3 6052425 6091264 + 4430359 4469194 + 4321193 4360028 + 6480464;6907045 11062477;11076863;11256614;12477932;15489334;15489336;16012775;16140933;16381901;16839873;16839880;18945750;19471022;19684603;19713938;21057531;21139048;21761199;21820150;21832049;21864926;21890473;21906983;21988832;22782351;22887998;22939629;23185017;23263487;23377640;23612020;23640457;23726973;23817040;23832602;24036271;24250222;24363807;24423178;24632713;24816145 57103 Q9NQ88 ABBA01048765;ABBA01048766;AC006122;AC008012;AJ272206;AK313226;AMYH02025921;AMYH02025922;AMYH02025923;AY425618;BC012340;BX098281;CH471116;DB480618;NM_020375;XM_006718993 AAH12340;AAQ98969;BAG36037;CAC01127;CAL37493;EAW88849;EAW88850;NP_065108;Q9NQ88;XP_006719056 Hs.504545 1336295;1652360;1657959;1777182;2133985;5014563;5016478;5022200;5022588 D12S1725;D5S1597E;G41261;G41262;GDB:434012;L17676;L18426;SHGC-32311;STS-N39260 FR2BP OTTHUMP00000237991;TIGAR;TP53-induced glycolysis and apoptosis regulator;fructose-2,6-bisphosphatase TIGAR;fructose-2,6-bisphosphate 2-phosphatase;probable fructose-2,6-bisphosphatase TIGAR;transactivated by NS3TP2 protein APPROVED protein-coding HGNC:1185 12610 610775 REVIEWED 1606749 C12orf57 chromosome 12 open reading frame 57 This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] 12 12 12 p13.31 8671824 8673786 + 7052146 7055165 + 6944040 6946002 + 6480464;8699517;8554872;7240710 12477932;15489334;19204726;21890473;22505724;22939629;23453665;23453666;23633300;24798461;9074930;9224939;9445485 113246 F5GXW5;Q99622;U3KQ07;U3KQ85 ABBA01017669;AK310266;AK311912;AMYH02025958;AV751928;BC009925;BE888740;BM687523;BM781587;BP318750;CB161655;CH471116;DB494917;NG_034262;NM_001301834;NM_001301836;NM_001301837;NM_001301838;NM_138425;NR_126035;U47924 AAB51329;AAH09925;BAG34853;EAW88705;NP_001288763;NP_001288765;NP_001288766;NP_001288767;NP_612434;Q99622 Hs.405913 2137943;2165198 RH11235;SHGC-31976 C10;FLJ17308;GRCC10 OTTHUMP00000239933;OTTHUMP00000239934;OTTHUMP00000239935;TEMTYS;likely ortholog of mouse gene rich cluster, C10 protein-coding ENSG00000111678 HGNC:29521 13609 218340;615140 REVIEWED 1603337 C12orf63 chromosome 12 open reading frame 63 12 12 q23.1 96707785 96825069 + 97041753 97159048 + 6480464 14702039;16344560;20379614;21890473 374467 Q6ZTY8 AC007564;AC008118;AK126100;CH471054;DB225896;XM_003846561 AAI48604;AAI53168;BAC86439;EAW97575;Q6ZTY8;XP_003846609 Hs.436197 1724305;1787824;1794162;2117458;5114476 D12S1055;PMC310794P9;RH119073;SHGC-173507;SHGC-17530 FLJ44112 putative uncharacterized protein C12orf63 protein-coding HGNC:24777 13484 1603179 C12orf66 chromosome 12 open reading frame 66 INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 12 12 12 q14.2 64251311 64281090 - 64580098 64616076 - 64186318 64222296 - 6480464 11752456;12477932;14702039;24483146 144577 F5H2Q3;J3KNH0;Q96MD2 ABBA01026612;AC012158;AK057111;AK095383;AK129933;AMYH02026654;AMYH02026655;AMYH02026656;AV653957;BC036246;BC071634;CH471054;DB313913;KF459550;NM_001300940;NM_001300941;NM_152440;W44639;XM_005268677 AAH71634;BAB71367;EAW97124;NP_001287869;NP_001287870;NP_689653;Q96MD2;XP_005268734 Hs.444671;Hs.505871 1680555;1700006;2115694;2117039;2171642;5015404;5015861;5015879;5024039;5024413;5024756;7185938 A008W05;D10S16;D16S325;GDB:314949;L17705;L17877;RH103615;RH80030;RH98970;SHGC-32073;WI-18097 FLJ32549 OTTHUMP00000239362;OTTHUMP00000239363;OTTHUMP00000239364;UPF0536 protein C12orf66;hypothetical protein LOC144577 protein-coding ENSG00000174206 HGNC:26517 08727 VALIDATED 1605601 C12orf65 chromosome 12 open reading frame 65 This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] 12 12 12 q24.31 123309422 123334084 + 123717844 123742651 + 123233297 123258104 + 6480464;7240710;8699517;8554872 12477932;14702039;17207965;20301682;20598281;21832049;21988832;22688947;22821833;23188110;23974872;24080142;24198383;24250222;24284555;24816145 91574 F5GWJ6;F5H4X5;F5H5V8;Q9H3J6 ABBA01060430;ABBA01060431;AC068768;AC073857;AF061733;AK025908;AK095982;AMYH02027451;AMYH02027452;BC018145;BC020885;BC062329;BI850864;BU507560;CH471054;NG_027517;NM_001143905;NM_001194995;NM_152269;XM_005253630;XM_005253631 AAG43144;AAH18145;AAH20885;AAH62329;ADQ32685;BAC04665;EAW98395;EAW98396;NP_001137377;NP_001181924;NP_689482;Q9H3J6;XP_005253687;XP_005253688 Hs.319128 1647433;1673153;2123703;5015619;5022578;5024039;5037552;5109281 D11S3114;D12S1445;D16S325;D1S1423;D1S1425;D8S2279;RH45719;STS-W93806 COXPD7;FLJ38663;SPG55 OTTHUMP00000239631;probable peptide chain release factor C12orf65, mitochondrial APPROVED protein-coding ENSG00000130921 HGNC:26784 08791 613541;613559;615035 REVIEWED 2302460 C12orf71 chromosome 12 open reading frame 71 12 12 12 p11.23 32380143 32381608 - 27233990 27235455 - 27081057 27082522 - 11181995 728858 A8MTZ7 ABBA01068044;AC092747;AMYH02026244;CH471094;NM_001080406 A8MTZ7;EAW96548;NP_001073875 Hs.334003 OTTHUMP00000240652;hCG1794298;hypothetical protein LOC728858;uncharacterized protein C12orf71 protein-coding ENSG00000214700 HGNC:34452 INFERRED 2301389 C12orf73 chromosome 12 open reading frame 73 FOUND IN extracellular region (inferred); INTERACTS WITH valproic acid 12 12 12 q23.3 104007750 104014765 - 104343980 104350993 - 103950202 103957215 - 6480464 12477932;14702039;24816145 728568 F8VQR3;F8VS87;F8VXG8;G3V1W1;Q69YU5 AA563681;ABBA01053210;AC078819;AK024037;AL359596;AMYH02027089;BC039467;BC044618;BC063467;BC073939;CH471054;FB746598;FB746692;NM_001135570 CAH10667;CAT04625;CAT04659;EAW97726;NP_001129042;Q69YU5 Hs.42547 1682283;1736258;2116292;2176613 D12S1216E;RH91861;STS-H98648;WI-22235 DKFZp547P055;FLJ13975 OTTHUMP00000242869;OTTHUMP00000242874;hypothetical protein LOC728568;uncharacterized protein C12orf73 protein-coding ENSG00000204954 HGNC:34450 VALIDATED 2303668 C12orf75 chromosome 12 open reading frame 75 INTERACTS WITH benzo[a]pyrene; cobalt dichloride; cyclosporin A 12 12 12 q23.3 105388672 105429552 + 105724414 105765296 + 105330636 105371518 + 6480464 11890990;12477932;14702039;19322201;19531736;23419831 387882 F8VQD4;F8VXK5;F8W1S6;Q8TAD7 AB735446;AB735447;ABBA01053184;AC011313;AC078874;AC127900;AJ311377;AJ311378;AK056999;AMYH02027111;AMYH02027112;AMYH02027113;BC013920;BC045812;BC061920;BC067897;BC126980;BC127012;BC131552;BQ021766;CH471054;HF679086;NM_001145199 AAH13920;AAH45812;AAH61920;AAH67897;AAI26981;AAI27013;BAM34484;CAC85391;CAC85392;EAW97765;EAW97766;NP_001138671;Q8TAD7 Hs.368938 1336679;1663085;5126705 D12S1597;SHGC-32919;STS-W19229 AGD3;MGC148100;MGC149157;OCC-1;OCC1 OTTHUMP00000242518;OTTHUMP00000242521;adipogenesis down-regulated 3;hypothetical protein LOC387882;overexpressed in colon carcinoma 1 protein;overexpressed in colon carcinoma-1;putative overexpressed in colon carcinoma-1 protein variant C;uncharacterized protein LOC387882 protein-coding ENSG00000235162 HGNC:35164 17368 VALIDATED 2303686 C12orf74 chromosome 12 open reading frame 74 12 12 12 q22 92767866 92773448 + 93096619 93102325 + 92702843 92708549 + 12477932;16344560;24024966 338809 Q32Q52 ABBA01053392;AC016136;AMYH02026931;BC043363;BC043364;BC105728;BC107813;CH471054;DB196554;NM_001037671;NM_001178097 AAI05729;AAI07814;EAW97470;NP_001032760;NP_001171568;Q32Q52 Hs.326303 MGC125584 OTTHUMP00000242833;OTTHUMP00000242834;hypothetical protein LOC338809;uncharacterized protein C12orf74 protein-coding ENSG00000214215 HGNC:27887 VALIDATED 1604429 C12orf76 chromosome 12 open reading frame 76 ENCODES a protein that exhibits ATP binding (inferred); ion channel activity (inferred); purinergic nucleotide receptor activity (inferred); INVOLVED IN ion transmembrane transport (inferred); purinergic nucleotide receptor signaling pathway (inferred); FOUND IN membrane (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; lead(0) 12 12 12 q24.11 110103217 110129734 - 110465401 110505500 - 110022417 110067695 - 6480464 12477932;14702039 400073 F8VV97;F8VYN6;F8VZK6;F8W0P4;Q8N812 ABBA01005085;ABBA01005086;AC007546;AK021447;AK097461;AMYH02027176;AMYH02027177;BC041968;BC046185;BC133010;BC133012;NM_207435;XM_005253882;XM_006719396;XR_243006;XR_429100;XR_429101 AAI33011;AAI33013;BAC05063;NP_997318;Q8N812;XP_005253939;XP_006719459 Hs.44817 2145120;2148959 SHGC-57922;WI-14197 FLJ11385;FLJ40142 OTTHUMP00000240760;hypothetical protein LOC400073;uncharacterized protein C12orf76 protein-coding ENSG00000174456 HGNC:33790 13443 PREDICTED 1348423 C12orf9 chromosome 12 open reading frame 9 12063392 93669 AF393503 HGNC:15949 7247020 C12orf80 chromosome 12 open reading frame 80 12 12 12 q13.13 51401813 51407050 - 52599365 52604639 - 52205581 52210855 - 11181995;12477932;16344560 283403 ABBA01031628;AC021066;AMYH02026499;BC038743;BC117348;BC126393;CH471111;DB098376;DB339709;HG504769;HG504770;NM_001242696 EAW58238;NP_001229625 Hs.667179 RP11-845M18.3 uncharacterized protein LOC283403 protein-coding HGNC:27473 VALIDATED 7245856 C12orf79 chromosome 12 open reading frame 79 INTERACTS WITH all-trans-retinoic acid 12 12 q21.33 92378752 92536447 - 91984976 92142671 - 6480464 12477932;14702039 256021 G3V211 ABBA01053398;ABBA01053399;AC025164;AC123512;AF086029;AK055439;AMYH02026921;AMYH02026922;AMYH02026923;BC029844;BC107595;BC118985;BC122534;CA438667;CH471054;NM_001256373;NM_001256374;NM_001256375;NR_046159;NR_046160 EAW97463;G3V211;NP_001243302;NP_001243303;NP_001243304 Hs.651357 1673364 RH78863 uncharacterized protein C12orf79;uncharacterized protein LOC256021 protein-coding ENSG00000257242 HGNC:27409 VALIDATED 4889302 C13orf41 chromosome 13 open reading frame 41 13 13 q12.13 6754627 6779557 + 25691059 25716046 + 20379614;9294218 100288679 O00249 AL359757;U82306;U82311;XM_003403512;XM_003403658 AAB72230;AAB72232;CAH70806;O00249;Q5VX57;XP_003403560;XP_003403706 Hs.550143 1737429 D13S998 protein-coding HGNC:39276 MODEL 3479035 C12orf77 chromosome 12 open reading frame 77 12 12 12 p12.1 30293267 30297281 - 25146358 25150373 - 24993424 24997439 - 12477932 196415 C9JDV5;G3V1V6 ABBA01068014;AC023510;AMYH02026215;BC035880;BC046192;BC062789;CH471094;KF459549;LN608431;NM_001101339 C9JDV5;EAW96500;NP_001094809 Hs.434453 OTTHUMP00000243153;putative uncharacterized protein C12orf77 protein-coding ENSG00000226397 HGNC:27282 VALIDATED 1343911 C14orf113 chromosome 14 open reading frame 113 q32.2 54792 Q9NXV8 AK000041 BAA90900;Q9NXV8 Hs.675410 FLJ20034 protein-coding HGNC:20216 1350908 C14orf105 chromosome 14 open reading frame 105 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; all-trans-retinoic acid 14 14 14 q22.3 37986663 38010642 - 57936595 57960581 - 57469300 57493863 - 6480464;8554872 12477932;14702039;20379614;8125298 55195 B7ZL43;E9PI50;E9PSE9;F5GWJ3;H0YES7;Q05C89;Q17R99;Q9NVL8 ABBA01018240;AI733133;AK001512;AK223127;AK307238;AL161804;AL355834;AMYH02029260;AMYH02029261;BC028060;BC117405;BC143565;BC143566;BC143567;BC143568;BI760135;BX470593;CH471061;NM_001283056;NM_001283057;NM_001283058;NM_001283059;NM_001283060;NM_018168;XM_005267806;XM_005267807;XM_005267809;XM_005267810;XM_005267811;XM_005267813;XM_005267814;XM_006720188;XM_006720189 AAH28060;AAI17406;AAI43567;AAI43568;ADR83122;BAA91732;BAD96847;EAW80706;EAW80707;NP_001269985;NP_001269986;NP_001269987;NP_001269988;NP_001269989;NP_060638;Q9NVL8;XP_005267863;XP_005267864;XP_005267866;XP_005267867;XP_005267868;XP_005267870;XP_005267871;XP_006720251;XP_006720252 Hs.659706 1706988;1726487;1774607;2145964;2186119 D8S370;G62623;RH46313;SHGC-56607;SHGC-80994 FLJ10650 OTTHUMP00000179017;OTTHUMP00000230653;OTTHUMP00000239180;hypothetical protein LOC55195;uncharacterized protein C14orf105 protein-coding ENSG00000100557 HGNC:20189 12628 VALIDATED 1321865 C14orf1 chromosome 14 open reading frame 1 INVOLVED IN sterol biosynthetic process (inferred); FOUND IN transport vesicle; INTERACTS WITH arachidonic acid; atrazine; cadmium sulfate 14 14 14 q24.3 56155336 56165643 - 76117233 76127538 - 75650890 75661195 - 6480464 10449901;10931946;10967139;11042152;11076863;11160377;11230166;11256614;11910120;12477932;12508121;12958361;15489334;15489336;16169070;16344560;16381901;21139048;21900206;21934552;23142642;24250222;24326590 11161 Q6FII3;Q86TW5;Q9UKR5 AA709128;ABBA01030697;AC007182;AF134159;AF136971;AF161406;AK311764;AL136658;AMYH02029541;BC002444;BX248022;CH471061;CR533443;DB030511;NM_007176 AAD51373;AAD54079;AAF28966;AAG49432;AAH02444;BAG34707;CAB66593;CAD62345;CAG38474;CAL38319;CAL38706;EAW81237;EAW81238;NP_009107;Q9UKR5 Hs.15106 1686790;1740639;2117883;5092672;5121853 A005P29;D14S1268;G32256;RH98534;SHGC-64295 ERG28;NET51 OTTHUMP00000246178;probable ergosterol biosynthetic protein 28 protein-coding HGNC:1187 05201 604576 VALIDATED 1352890 C14orf144 chromosome 14 open reading frame 144 FOUND IN extracellular region (inferred) 14 q32.33 103775312 103780535 + 145195 Q96I85 AL590079;BC007749;CH471061;XM_930354 AAH07749;EAW81862;Q96I85;XP_935447 Hs.679805 ncrna HGNC:20358 1318193 C14orf119 chromosome 14 open reading frame 119 ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; potassium chromate 14 14 14 q11.2 3427493 3432371 + 23564683 23569665 + 23095474 23100456 + 6480464;8554872 12477932;14702039;15489334;16169070;16344560;18029348;21906983;24250222 55017 Q9NWQ9 ABBA01061307;AF061731;AK000678;AK024794;AL117258;AMYH02028864;AMYH02028865;BC009645;BC056255;BC061637;CH471078;CR457248;DA605680;NG_030461;NM_017924 AAG43142;AAH09645;AAH56255;AAH61637;BAA91320;CAG33529;EAW66185;NP_060394;Q9NWQ9 Hs.525238;Hs.735365 1689261;5037552 D8S2279;RH8142 FLJ20671;FLJ21141;MGC74723 My028 protein;OTTHUMP00000164568;OTTHUMP00000246130;uncharacterized protein C14orf119 protein-coding ENSG00000179933 HGNC:20270 16595 VALIDATED 1318068 C14orf151 chromosome 14 open reading frame 151 q32.33 12477932;12665801 84800 AL583722;BC006173;BX248757;CH471061;CR612331;NM_032714 AAH06173;CAD66564;EAW81872;NP_116103;Q86TR7;Q9BRM1 Hs.317821 MGC13251 protein-coding HGNC:20490 16611 1350098 C14orf132 chromosome 14 open reading frame 132 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 5-fluorouracil; atrazine 14 14 14 q32.2 76561402 76615873 + 96505661 96560226 + 96039324 96093971 + 6480464;8554872 12477932;14702039;15489334;16344560;21697133;8619474;9110174 56967 Q9NPU4 AB621830;ABBA01048597;ABBA01048598;AF131832;AK001590;AK022021;AK025915;AK074462;AK313017;AL137190;AL390130;AMYH02029802;BC042922;BC043593;BC067267;BI791809;CA434364;CH471061;DA114412;DA249054;DA328471;DA811354;DB264577;LN608542;LN608543;LN608544;LN608545;NM_001252507;NM_001282463;NM_001282464;NM_001289139 BAG35852;CAB99085;EAW81626;EAW81627;EAW81628;NP_001239436;NP_001269392;NP_001269393;NP_001276068;Q9NPU4 Hs.6434;Hs.733033 1658192;1689420;1739413;1757259;1774885;2117160;2137893 D14S823E;D14S856;RH11213;RH91762;SHGC-144677;SHGC-53366;T16162 C14orf88;DKFZp761F2014;FLJ10728;FLJ93483 putative uncharacterized protein C14orf132;uncharacterized protein C14orf132 protein-coding HGNC:20346 16603 VALIDATED 1350524 C14orf16 chromosome 14 open reading frame 16 414762 HGNC:19435 1346081 C14orf142 chromosome 14 open reading frame 142 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; cyclosporin A 14 14 14 q32.12 73723243 73727465 - 93669237 93673459 - 93202892 93207114 - 6480464;8554872 12477932;15489334;22863883;22912744;23455922;24816145 84520 H0YJA8;Q9BXV9 ABBA01030435;AF277185;AL110118;AMYH02029770;BC021733;BC065216;BC107429;BC109390;BF131439;CH471061;NM_032490 AAH21733;AAH65216;AAI07430;AAI09391;AAK07544;EAW81519;EAW81520;NP_115879;Q9BXV9 Hs.20142 1651636;2123374 RH70184;STS-W90738 MGC104244;MGC133207;PNAS-127 OTTHUMP00000245675;OTTHUMP00000245676;hypothetical protein LOC84520;uncharacterized protein C14orf142 protein-coding ENSG00000170270 HGNC:20356 16608 VALIDATED 1323376 C14orf159 chromosome 14 open reading frame 159 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; thapsigargin 14 14 14 q32.11 71628800 71740164 + 91526677 91691976 + 91114013 91225396 + 6480464;8554872 11076863;11230166;12477932;12975309;14702039;15489334;15489336;15790807;16344560;16381901;20877624;21832049;8125298;8889549 80017 B3KVU6;E5RFT5;E5RFZ6;E5RGN8;E5RGP9;E5RHG2;E5RIL4;E5RIU5;E5RJ62;E5RJ87;E5RJD1;E5RJL7;E5RK14;E5RK56;G8JLP2;H0YB09;H0YB11;H0YB62;Q4LE40;Q7Z3D6 AA192653;AB210031;ABBA01030482;ABBA01030483;ABBA01030484;ABBA01030485;ABBA01030486;ABBA01030487;AI825879;AK022564;AK023200;AK024603;AK091394;AK097262;AK097294;AK098752;AK123532;AK222531;AK308857;AL121784;AL135818;AL602721;AMYH02029738;AMYH02029739;AX879358;AX882684;AY358516;AY927602;BC009182;BC010614;BC065558;BX161393;BX247989;BX248060;BX248294;BX248782;BX537970;BX642394;BX647492;CH471061;CR457289;DA296867;DA641301;DB258432;DR003467;NM_001102366;NM_001102367;NM_001102368;NM_001102369;NM_001286470;NM_001286471;NM_001286472;NM_001286473;NM_024952 AAH09182;AAH10614;AAH65558;AAQ88880;BAB14102;BAB14458;BAB14932;BAC03653;BAD96251;BAE06113;BAG53449;BAG53908;CAD61880;CAD62323;CAD62356;CAD62622;CAD66589;CAD97934;CAE90480;CAE91684;CAG33570;CAL37996;EAW81441;EAW81442;EAW81443;EAW81444;NP_001095836;NP_001095837;NP_001095838;NP_001095839;NP_001273399;NP_001273400;NP_001273401;NP_001273402;NP_079228;Q7Z3D6 Hs.309849 1647912;1656146;1707860;1725667;2116596;2120358;2124729;2131831;2148092;2155528;2157778;2158154;2166271;2185680;5113238;5121488 D14S1287;D14S593;D14S765;G35495;G35613;G35745;G35833;G36152;G36221;G36227;G36279;G62042;RH75013;SHGC-82165;STS-AA010373;WI-19880 C14orf160;DKFZp686I02128;FLJ20950;FLJ39943;FLJ39975 OTTHUMP00000228069;OTTHUMP00000228070;OTTHUMP00000228075;OTTHUMP00000228079;OTTHUMP00000228082;OTTHUMP00000228083;OTTHUMP00000228084;OTTHUMP00000228087;OTTHUMP00000228088;OTTHUMP00000228091;UPF0317 protein C14orf159, mitochondrial;hypothetical protein LOC80017;uncharacterized protein LOC80017 protein-coding ENSG00000133943 HGNC:20498 16612 VALIDATED 1312305 C14orf166 chromosome 14 open reading frame 166 ENCODES a protein that exhibits identical protein binding; poly(A) RNA binding; RNA binding; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; tRNA splicing, via endonucleolytic cleavage and ligation; ASSOCIATED WITH Melanoma (inferred); FOUND IN actin cytoskeleton; cytoplasm; nucleus; INTERACTS WITH (+)-catechin; copper(2+) sulfate; cyclosporin A 14 14 14 q22.1 32323222 32338419 + 52456228 52471420 + 51989510 52004702 + 6480464;8554872 10810093;11507205;12477932;15147888;15489334;15635413;1602151;16950395;17043677;17643375;18029348;18685082;19152423;19738201;21139048;21145461;21823664;21890473;21900157;21906983;21963094;21987572;22053931;22174317;22323290;22354994;22505724;22863883;22939629;23000965;23022380;23824909;23864651;24332808;24457600;24608264;24816145 51637 G3V4C6;G3V4E7;H0YJB9;Q549M8;Q9Y224 ABBA01018162;AF087877;AF100755;AF151857;AK312004;AL358333;AMYH02029186;AY817175;BC001722;BF594675;CH471078;DQ525179;KF455891;NM_016039 AAD34094;AAD43019;AAH01722;AAP97177;AAV54070;ABF56619;ABZ92335;BAG34942;EAW65659;EAW65660;EAW65661;NP_057123;Q9Y224 Hs.534457 1652108;1667507;1695112;1753993;2135439;5109761 D14S1197;D14S1201;D14S643E;G48195;HUM0S17C09;SHGC-132026 CGI-99;CGI99;CLE;CLE7;LCRP369;RLLM1 CLE7 homolog;OTTHUMP00000178984;OTTHUMP00000245063;RLL motif containing 1;UPF0568 protein C14orf166;homeobox prox 1 protein-coding HGNC:23169 16615 610858 VALIDATED 1606666 C14orf177 chromosome 14 open reading frame 177 14 14 14 q32.2 79233707 79239856 + 99177950 99184103 + 98711613 98717766 + 12477932;14702039;15489334;17903294;23118302;23251661 283598 F5GYC5;Q52M58 ABBA01048573;AK098639;AL096821;AMYH02029822;BC093661;CH471061;DB523204;NM_182560 AAH93661;BAC05361;EAW81658;EAW81659;NP_872366;Q52M58 Hs.448754 5493237 UniSTS:485416 FLJ25773 OTTHUMP00000236739;OTTHUMP00000236740;hypothetical protein LOC283598;putative uncharacterized protein C14orf177 protein-coding ENSG00000176605 HGNC:26375 08075 PREDICTED 1317046 C14orf169 chromosome 14 open reading frame 169 ENCODES a protein that exhibits histone demethylase activity (H3-K36 specific) (ortholog); histone demethylase activity (H3-K4 specific) (ortholog); iron ion binding (ortholog); INVOLVED IN histone H3-K36 demethylation (ortholog); histone H3-K4 demethylation (ortholog); negative regulation of osteoblast differentiation (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH atrazine; copper atom; copper(0) 14 14 14 q24.3 54021934 54024395 + 73957644 73960105 + 73490939 73493401 + 737633;6480464 12477932 14702039;14742713;15489334;17308053;19615732;19927124;22750859;23620590 79697 Q9H6W3 ABBA01030758;AC005280;AC245368;AK025455;AK299994;AY390535;BC011350;BC071954;BX390965;CN259773;DA509240;DA872764;HY178771;NM_024644 AAH11350;AAH71954;AAR27292;BAB15138;BAG61814;NP_078920;Q9H6W3 Hs.509916 1644664;2122577;2128152;2177870;5021694 G38173;SHGC-56451;STS-Z40969;WI-22498;ksks225 FLJ21802;MAPJD;NO66;ROX;hsNO66 60S ribosomal protein L8 histidine hydroxylase;MYC-associated protein with JmjC domain;OTTHUMP00000233252;bifunctional lysine-specific demethylase and histidyl-hydroxylase NO66;histone lysine demethylase NO66;lysine-specific demethylase NO66;nucleolar protein 66;ribosomal oxygenase NO66 protein-coding ENSG00000170468 HGNC:20968 12641 611919 VALIDATED 1603813 C14orf181 chromosome 14 open reading frame 181 14 14 q24.1 49320211 49321937 - 69261464 69263190 - 14702039;19430480;20378605;20379614 400223 AK097098;AL132986;BP397993;CH471061;NM_207442 AAI48846;AAI52899;BAC04948;EAW80970;NP_997325;Q8N8A1 Hs.655774 FLJ39779 putative uncharacterized protein C14orf181 protein-coding HGNC:33794 13439 VALIDATED 1606667 C14orf178 chromosome 14 open reading frame 178 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); paracetamol (ortholog); potassium dichromate (ortholog) 14 14 14 q24.3 58265685 58274587 + 78227173 78236085 + 77760830 77769742 + 6480464 12477932;14702039;15489334;24250222 283579 F8WAD5;Q8N769 ABBA01030643;AC008372;AK098842;AMYH02029577;BC107147;BC113929;BC113986;NM_001173978;NM_174943 AAI13930;BAC05432;NP_001167449;NP_777603;Q8N769 Hs.375834 FLJ25976;MGC129942 OTTHUMP00000246317;hypothetical protein LOC283579;uncharacterized protein C14orf178 protein-coding ENSG00000197734 HGNC:26385 08080 VALIDATED 1603812 C14orf180 chromosome 14 open reading frame 180 FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol 14 14 14 q32.33 85102104 85112230 + 105046056 105056184 + 104579684 104589847 + 6480464 12477932;14702039;23029450 400258 B4DN93;J3KNP8;Q8N912 ABBA01002996;AK095913;AK297818;AK309489;AMYH02029949;AW451284;BC041103;BX161457;BX337634;BX927359;CH471061;DC329564;NM_001008404;NM_001286399;NM_001286400;XM_005267638;XM_006725159 AAH41103;BAC04645;BAG60155;CAD61919;EAW81864;EAW81865;NP_001008404;NP_001273328;NP_001273329;Q8N912;XP_005267695;XP_006725222 Hs.153827 2124333 RH41919 C14orf77;FLJ38594;NRAC OTTHUMP00000028407;OTTHUMP00000244505;OTTHUMP00000244506;OTTHUMP00000244507;nutritionally-regulated adipose and cardiac enriched protein homolog;nutritionally-regulated adipose and cardiac-enriched;transmembrane protein C14orf180 protein-coding ENSG00000184601 HGNC:33795 17383 VALIDATED 2859192 C14orf184 chromosome 14 open reading frame 184 14 14 q32.12 72087405 72090000 - 92038788 92041383 - 14702039 650662 AF318368;AK091161;AL133373;NM_001080113 AAL55875;NP_001073582;Q8WYT3 Hs.638530 FLJ33842;PP8961 putative uncharacterized protein C14orf184 protein-coding HGNC:37224 VALIDATED 1350643 C14orf22 chromosome 14 open reading frame 22 q12 387977 AI278049;N48783 Hs.143441 1776471 SHGC-37332 protein-coding HGNC:19827 1602424 C14orf183 chromosome 14 open reading frame 183 14 14 14 q21.3 30417514 30426499 - 50550369 50559361 - 50083651 50092643 - 196913 Q8WXQ3 ABBA01018130;AF390030;AL109758;AMYH02029163;CH471078;LN608511;NM_001014830 AAL58840;EAW65733;EAW65734;NP_001014830;Q8WXQ3 Hs.406934 1757163 SHGC-144589 OTTHUMP00000244572;putative uncharacterized protein C14orf183 APPROVED protein-coding ENSG00000168260 HGNC:27285 18572 PREDICTED 1603254 C14orf182 chromosome 14 open reading frame 182 INTERACTS WITH (-)-demecolcine; ethyl methanesulfonate; formaldehyde 14 14 14 q21.3 30315522 30341351 - 50448430 50474238 - 49981712 50007520 - 6480464 12477932;14702039;20379614 283551 A1A4T8;Q8NF59 ABBA01018127;AK090420;AK091232;AL117692;AMYH02029162;BC058283;BC128083;BC144351;CH471078;LN608506;LN608507;LN608509;NM_001012706 A1A4T8;AAI28084;AAI44352;BAC03401;EAW65738;NP_001012724 Hs.660867 2181654;5037552 D8S2279;G35624 MGC149108 OTTHUMP00000236540;hypothetical protein LOC283551;uncharacterized protein C14orf182 protein-coding HGNC:27503 13397 VALIDATED 1352128 C14orf2 chromosome 14 open reading frame 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrial proton-transporting ATP synthase complex (ortholog); INTERACTS WITH cyclosporin A; hydrogen peroxide; isotretinoin 14 14 14 q32.33 84432866 84442144 - 104378625 104387903 - 103912288 103921566 - 1298632;6480464;8554872 9653160 11042152;12477932;15489334;16344560;16712791;17286855;21890473;24250222;24330338;24816145 9556 G3V556;P56378 ABBA01048397;ABBA01048398;ABBA01048399;AF054175;AF116639;AK309355;AK309499;AK310120;AK312099;AL132712;AMYH02029935;BC000429;BC001944;BC047289;BC063419;BX161388;CB127906;CH471061;DA526965;DQ426862;NM_001127393;NM_004894 AAC39909;AAF71062;AAH00429;AAH01944;BAG35035;CAD61878;EAW81849;EAW81850;EAW81851;EAW81852;NP_001120865;NP_004885;P56378 Hs.109052 1683659;1739807;2136695;2148098;2162277;5037552 D14S894E;D8S2279;G35411;G35502;RH75092;SHGC-36470 MP68;PLPM 6.8 kDa mitochondrial proteolipid;OTTHUMP00000246570;OTTHUMP00000246571;OTTHUMP00000246573;OTTHUMP00000246575 protein-coding ENSG00000156411 HGNC:1188 05199 604573 VALIDATED 1348871 C14orf26 chromosome 14 open reading frame 26 q21.1 8889549 400208 AA029430;AK125955 Hs.660501 2187138 STS-AA029430 protein-coding HGNC:19831 1316923 C14orf28 chromosome 14 open reading frame 28 INTERACTS WITH (-)-demecolcine; copper atom; copper(0) 14 14 14 q21.2 25227762 25237715 + 45366433 45376460 + 44897230 44907257 + 6480464 12477932;15489334;16341674;20874815;24250222 122525 G3V4G8;Q4W4Y0 ABBA01018043;AF250395;AK126985;AL049870;AMYH02029100;BC030258;BC105030;BC105032;BM849739;BU624091;CH471078;NM_001017923;XM_005267316 AAH30258;AAI05031;AAI05033;AAQ14261;EAW65796;NP_001017923;Q4W4Y0;XP_005267373 Hs.82098 1663550 G23875 DRIP-1;DRIP1;c14_5270 OTTHUMP00000244259;OTTHUMP00000244260;dopamine receptor interacting protein 1;dopamine receptor-interacting protein 1;hypothetical protein LOC122525;uncharacterized protein C14orf28 protein-coding ENSG00000179476 HGNC:19834 18544 VALIDATED 1351913 C14orf30 chromosome 14 open reading frame 30 161342 BG121773 HGNC:19838 1347411 C14orf40 chromosome 14 open reading frame 40 319109 BE348955 HGNC:19850 1344999 C14orf41 chromosome 14 open reading frame 41 q24.3 14702039 440187 AK055876;BG654811 Hs.525443 c14_5527 protein-coding HGNC:19851 1351933 C14orf37 chromosome 14 open reading frame 37 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH trichostatin A; valproic acid; 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ortholog) 14 14 14 q23.1 38520760 38668792 - 58470808 58618847 - 58004090 58152239 - 6480464;8554872 12477932;15489334;20379614 145407 Q86TY3 ABBA01018244;ABBA01018245;ABBA01018246;ABBA01018247;AK292513;AK292605;AK294599;AL049838;AL121579;AMYH02029267;AMYH02029268;AMYH02029269;BC013707;BC062772;BC146861;BX161411;BX161448;BX649130;CH471061;NM_001001872;XM_006720051 AAH62772;AAI46862;BAF85202;BAF85294;BAG57786;CAD61887;CAD61913;EAW80712;EAW80713;NP_001001872;Q86TY3;XP_006720114 Hs.535420 1708742;1710144;1855619;2114481;2129958;2162539 G35522;RH44675;RH69498;SHGC-36423;SHGC-81560;SHGC-81588 c14_5376 OTTHUMP00000245308;hypothetical protein LOC145407;uncharacterized protein C14orf37 protein-coding HGNC:19846 10712 PREDICTED 1342722 C14orf42 chromosome 14 open reading frame 42 161380 BF109853 HGNC:19852 1346214 C14orf51 chromosome 14 open reading frame 51 338000 HGNC:20098 1350418 C14orf39 chromosome 14 open reading frame 39 INVOLVED IN multicellular organismal development (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenite(3-); trichostatin A; valproic acid 14 14 14 q23.1 40952829 41002917 - 60902674 60952764 - 60435956 60486046 - 6480464;8554872 12477932;14702039;15703187;23396134;23563607 317761 G3V257;G3V3U9;G3V493;H0YJQ0;Q8N1H7 ABBA01018281;ABBA01018282;AK098187;AL122057;AL132778;AL832219;AMYH02029295;BC125070;BC125071;CH471061;DB447488;EB388156;KF455903;NM_174978;XR_429313 AAI25071;BAC05253;EAW80780;EAW80781;NP_777638;Q8N1H7 Hs.335754 MGC149706;Six6os1 OTTHUMP00000179039;six6 opposite strand transcript 1 protein-coding ENSG00000179008 HGNC:19849 08504 VALIDATED 1344838 C14orf56 chromosome 14 open reading frame 56 q24.2 14702039 89919 AC004817;AC005476;AK024445;XM_001715980;XM_001716301;XM_001718387 BAB15735;Q9H7N3;XP_001716032;XP_001716353;XP_001718439 Hs.551210 1643818;1715777;2112920;2130197 D14S1418;G38302;G38312;RH119337 FLJ00035 protein-coding HGNC:20103 1348359 C14orf62 chromosome 14 open reading frame 62 317786 HGNC:20109 1343261 C14orf67 chromosome 14 open reading frame 67 196860 HGNC:20114 1354345 C14orf77 chromosome 14 open reading frame 77 145323 HGNC:20124 1353145 C14orf7 chromosome 14 open reading frame 7 378821 AI027773 HGNC:19284 1348818 C14orf57 chromosome 14 open reading frame 57 11483580 317787 CH471061 EAW81073;Q9H367 protein-coding HGNC:20104 1353513 C14orf81 chromosome 14 open reading frame 81 153514 HGNC:20128 1343204 C14orf60 chromosome 14 open reading frame 60 338001 HGNC:20107 1352699 C14orf88 chromosome 14 open reading frame 88 91813 HGNC:20135 1354469 C14orf91 chromosome 14 open reading frame 91 51217 AF113687 HGNC:20138 1352318 C14orf95 chromosome 14 open reading frame 95 338003 HGNC:20158 1322363 C14orf80 chromosome 14 open reading frame 80 INTERACTS WITH atrazine; copper(2+) sulfate; coumestrol 14 14 14 q32.33 86009230 86017442 + 105956192 105965585 + 105489855 105499248 + 6480464 12477932;14702039;18330356;20562859;21963094;22505724;24250222;25036637 283643 C9IYA4;C9J1F2;C9J317;C9J6B2;C9JZ80;C9K0G6;F8VP51;Q86SX3 ABBA01008881;AC243900;AK024506;AL928654;AW236560;BC016028;BX161477;BX248038;BX248074;BX248283;CH471061;NM_001134875;NM_001134876;NM_001134877;NM_001198983 AAH16028;ADZ15892;BAB15796;CAD61932;CAD62351;CAD62363;CAD62611;EAW81929;NP_001128347;NP_001128348;NP_001128349;NP_001185912;Q86SX3 Hs.720306 1661583;2144202;5022588 D5S1597E;RH48485;RH65096 MGC16771 OTTHUMP00000028466;OTTHUMP00000163912;OTTHUMP00000163913;OTTHUMP00000163914;OTTHUMP00000211269;OTTHUMP00000211271;OTTHUMP00000243774;OTTHUMP00000243775;hypothetical protein LOC283643;uncharacterized protein C14orf80 protein-coding ENSG00000185347 HGNC:20127 12658 VALIDATED 1316438 C14orf79 chromosome 14 open reading frame 79 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 14 14 14 q32.33 85506829 85516068 + 105452125 105466056 + 104985788 104999719 + 6480464 12477932;12508121;14702039;15489334;16112646;8619474;9110174 122616 F8VUA8;H0YHP6;J3KPM0;J3KRA4;Q96F83 ABBA01008850;AF038188;AK057249;AL512802;AMYH02029958;BC003539;BC011537;BC025175;BC137495;BC144671;CH471061;NM_174891;XM_005267317;XM_005267318 AAH03539;AAI37496;EAW81890;EAW81891;EAW81892;NP_777551;Q96F83;XP_005267374;XP_005267375 Hs.27183 1649982;1682850;1736422;5092954 A009C47;D14S683E;G32433;RH91739 OTTHUMP00000243899;OTTHUMP00000243900;hypothetical protein LOC122616;uncharacterized protein C14orf79 protein-coding HGNC:20126 12656 VALIDATED 1354202 C15orf13 chromosome 15 open reading frame 13 170479 HGNC:18112 1321239 C15orf26 chromosome 15 open reading frame 26 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH hydroquinone O-beta-D-glucopyranoside 15 15 15 q25.1 58364060 58378932 + 81391749 81441516 + 81127590 81149175 + 737633;6480464;8554872 12477932 14702039;15489334 161502 H0YM05;H0YNS7;Q6P656 ABBA01060635;AC036196;AC068870;AK095934;AK302120;AK307565;AMYH02030893;AMYH02030894;BC062471;CH471136;NM_173528;XM_006720408 AAH62471;BAC04653;BAG63498;EAW99102;EAW99103;EAW99104;NP_775799;Q6P656;XP_006720471 Hs.130979 FLJ38615 hypothetical protein LOC161502;uncharacterized protein C15orf26 protein-coding ENSG00000156206 HGNC:26782 08243 PREDICTED 1351050 C14orf99 chromosome 14 open reading frame 99 317730 1680220 RH67822 HGNC:20170 1348927 C14orf93 chromosome 14 open reading frame 93 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN extracellular region (inferred); INTERACTS WITH aflatoxin B1; hydrogen peroxide; valproic acid 14 14 14 q11.2 3319000 3342250 - 23456110 23479375 - 22986901 23010201 - 6480464 12477932;14702039;15146197;15489334;16344560;18029348;21693764;21832049;21890473;23704328 60686 G3V2P0;G3V2U2;G3V396;G3V3W0;G3V4F1;G3V4L9;G3V4W6;G5E9D9;J3KPV9;Q9H972 ABBA01061298;ABBA01061299;ABBA01061300;ABBA01061301;AK022216;AK023026;AL132780;AMYH02028858;AMYH02028859;AMYH02028860;AMYH02028861;AMYH02028862;AX880043;BC014299;BX161383;BX161417;BX161474;BX161507;CH471078;CN309429;DA818572;DA891690;NM_001130706;NM_001130708;NM_001282968;NM_001282969;NM_001282970;NM_021944;XM_005267971;XM_005267972;XM_005267973;XM_006720229;XM_006720230;XM_006720231;XM_006720232 AAH14299;BAB13988;BAB14363;CAD61874;CAD61892;CAD61930;CAD61946;CAE90777;EAW66196;EAW66197;EAW66198;EAW66199;EAW66200;EAW66201;EAW66202;EAW66203;NP_001124178;NP_001124180;NP_001269897;NP_001269898;NP_001269899;NP_068763;Q9H972;XP_005268028;XP_005268029;XP_005268030;XP_006720292;XP_006720293;XP_006720294;XP_006720295 Hs.255874 1672048;1728477;2117918 AFMB073ZC5;G63676;SHGC-31862 FLJ12154 OTTHUMP00000164561;OTTHUMP00000164562;OTTHUMP00000164563;OTTHUMP00000164564;OTTHUMP00000164565;OTTHUMP00000164566;OTTHUMP00000164567;hypothetical protein LOC60686;uncharacterized protein C14orf93 protein-coding ENSG00000100802 HGNC:20162 12662 VALIDATED 1351477 C15orf27 chromosome 15 open reading frame 27 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; dimethyl sulfoxide 15 15 15 q24.2 53278201 53423401 + 76352299 76497304 + 76059958 76204963 + 6480464;8554872 12477932;14702039;15342556;15489334;16344560;16572171;22020278;22082156 123591 H0YNC9;H3BM28;Q2M3C6 ABBA01060546;AC091100;AK054866;AK058126;AK095509;AK308676;AMYH02030822;AMYH02030823;AMYH02030824;AMYH02030825;AMYH02030826;AMYH02030827;BC104953;BC104955;BP369654;BQ009353;BX398159;CH471136;DA090797;DA483185;DR007145;KF456099;NM_152335;XM_005254160 AAI04954;AAI04956;BAB71676;BAC04562;BAG51435;EAW99224;EAW99225;NP_689548;Q2M3C6;XP_005254217 Hs.661411 1757883;1783176;1783220 SHGC-112468;SHGC-146755;SHGC-153295 FLJ30304;FLJ38190 OTTHUMP00000183577;transmembrane protein C15orf27 protein-coding ENSG00000169758 HGNC:26763 08235 VALIDATED 1606452 C15orf32 chromosome 15 open reading frame 32 15 15 15 q26.1 69426755 69456192 + 93014907 93044347 + 92471677 92501117 + 12477932;14702039;15489334;17903307;20386566;21529783 145858 Q32M92 ABBA01053091;AC090985;AK057393;AMYH02031071;BC109252;BC109253;CH471101;FJ515837;HC044857;KF495670;LN608581;LN608582;NM_001301106;NM_153040;XM_005254870 AAI09253;AAI09254;ACS13729;BAB71467;CBH30758;EAX02151;NP_001288035;NP_694585;Q32M92;XP_005254927 Hs.367879 1769670;5124182 G17849;RH98365 FLJ32831;MGC129836;MGC129837 OTTHUMP00000194775;hypothetical protein LOC145858;uncharacterized protein C15orf32 protein-coding ENSG00000183643 HGNC:26549 08143 VALIDATED 1353443 C15orf31 chromosome 15 open reading frame 31 8228263 L17330 HGNC:21692 5013871 C15orf38-AP3S2 C15orf38-AP3S2 readthrough This locus represents naturally occurring read-through transcription between the neighboring C15orf38 (chromosome 15 open reading frame 38) and AP3S2 (adaptor-related protein complex 3, sigma 2 subunit) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 15 15 q 90373831 90456222 - 89830599 89912990 - 6480464 20585627;20967262;21874001;21890473;21906983;21963094;21987572;22505724;23000965;23945395 100526783 H0YL85;H0YMK0;Q7Z6K5 ABBA01053027;ABBA01053028;ABBA01053029;ABBA01053030;ABBA01053031;AC018988;AC027176;AK000495;AMYH02031028;AMYH02031029;NM_001199058 NP_001185987 Hs.744890 1767579;2112970;2165051;2183352;5016851;5022200;5022578;5022651;5037552 D11S2921;D15S1443E;D1S1423;D8S2279;L18426;RH11326;RH80031;WI-15468;WI-20835 FLJ20488 C15orf38-AP3S2 fusion protein;OTTHUMP00000221441 APPROVED protein-coding HGNC:38824 VALIDATED 1607000 C15orf41 chromosome 15 open reading frame 41 This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] 15 15 15 q14 13631911 13862498 + 36871812 37102449 + 36579611 36810248 + 6480464;8699517;7240710;8554872 12477932;15489334;16344560;17207965;17353931;19913121;20301759;20628086;21906983;23716552 84529 H3BMD3;H3BNF9;H3BRH2;H3BS01;H3BTL3;Q9Y2V0 AA581466;ABBA01038496;ABBA01038497;AC007429;AC013640;AC019016;AC103988;AF114263;AK026504;AK315446;AL526474;AMYH02030197;AMYH02030198;AMYH02030199;AMYH02030200;BC006254;BC042750;BX647650;CH471125;DA467314;DA534917;NG_034055;NM_001130010;NM_001290232;NM_001290233;NM_032499;XM_005254719;XR_424597;XR_429512;XR_433079 AAD29606;AAH06254;ADQ32816;BAG37834;EAW92336;EAW92337;EAW92338;NP_001123482;NP_001277161;NP_001277162;NP_115888;Q9Y2V0;XP_005254776 Hs.48348 1339904;1663261;1751897;1753133;1772473;2141569;2141738;2171617;2219132 D15S1266;G17854;GATA50C03;HH114__6715;SGC38378;SHGC-105791;SHGC-109985;WI-13895;WI-18117 FLJ22851;HH114;MGC11326 hypothetical protein LOC84529;uncharacterized protein C15orf41 protein-coding ENSG00000186073 HGNC:26929 13650 615626;615631 REVIEWED 1602786 C15orf45 chromosome 15 open reading frame 45 q13.3 14702039 641318 Q96MF0 AK057017;NM_001035530 BAB71345;NP_001030607;Q96MF0 Hs.671908 FLJ32455 protein-coding HGNC:32364 1604333 C15orf39 chromosome 15 open reading frame 39 FOUND IN cytoplasm; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; copper atom 15 15 15 q24.2 52445013 52455302 + 75491219 75504510 + 75198887 75212169 + 6480464 11230166;12477932;14702039;15489334;15498874;16169070;16344560;19471022;21693764;21832049;21890473;21963094;21988832;22505724;23000965;8889548 56905 H3BMJ2;H3BN41;H3BRS2;H3BT66;Q6ZRI6 ABBA01060519;AC113208;AF063593;AF143881;AF495726;AK056589;AK057025;AK123746;AK125111;AK125604;AK128205;AL109730;AL117540;AL360143;AL834382;AMYH02030813;AX525186;BC000540;BC001762;BC006207;BC011379;BC011905;BC051235;BC069049;BC109195;BC110367;BM684714;CH471136;CR533482;DA720113;NM_015492;XM_005254551;XM_006720613 AAG43152;AAH01762;AAH11379;AAH11905;AAH51235;AAI09196;AAI10368;AAQ06680;BAC86215;BAC87324;BAG54145;CAB55985;CAB96089;CAD39045;CAD57047;CAG38513;EAW99272;EAW99273;NP_056307;Q6ZRI6;XP_005254608;XP_006720676 Hs.17936 2117893;2158936;2166562;2175460 D15S617E;HSC0NH062;RH45074;STS-T53273 DKFZp434H132;FLJ46337;MGC117209 OTTHUMP00000183481;hypothetical protein LOC56905;uncharacterized protein C15orf39 protein-coding ENSG00000167173 HGNC:24497 13154 VALIDATED 1606959 C15orf43 chromosome 15 open reading frame 43 15 15 15 q21.1 22140500 22163021 + 45248900 45271421 + 44956702 44979223 + 12477932;15489334;21832049 145645 H0YKV2;H0YNH3;Q8NHR7 ABBA01039190;AC090888;AMYH02030350;BC029537;CH471082;HC007150;NM_152448 AAH29537;ABM81909;ABM85084;CBH19380;EAW77283;NP_689661;Q8NHR7 Hs.567701 1732457 D15S517 MGC33951 OTTHUMP00000161938;hypothetical protein LOC145645;uncharacterized protein C15orf43 protein-coding ENSG00000167014 HGNC:28520 17528 VALIDATED 1604247 C15orf40 chromosome 15 open reading frame 40 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; valproic acid; 1,3-dinitrobenzene (ortholog) 15 15 15 q25.2 60906250 60928927 + 83657715 83681050 - 82988963 83012298 - 6480464;8554872 12477932;14702039;15146197;15489334;16368877;16751776;21139048;21890473;24250222;24816145;8889548 123207 H0Y996;H0Y9H8;H0YAC3;H3BM85;H3BMR1;H3BQZ5;Q8WUR7 AA905778;ABBA01029433;AC022558;AI239480;AJ705316;AK125586;AK311484;AK312160;AL602775;AMYH02030923;AW105048;BC019820;BE906569;BQ013375;BQ185982;BY800475;CH471188;CN347153;DC428269;DQ573071;DW416709;NM_001160113;NM_001160114;NM_001160115;NM_001160116;NM_144597;NR_027649;NR_027650;XM_006720385 AAH19820;BAG35094;EAW62431;EAW62432;NP_001153585;NP_001153586;NP_001153587;NP_001153588;NP_653198;Q8WUR7;XP_006720448 Hs.352541 1680793;1700694;2107375;2120780;2143588;5015961;5020948;5022322;5037552 D11S2560;D15S1477;D8S2279;G35510;MGC29937__7701;RH103970;RH41989;RH65049;STS-N36410 FLJ33606;MGC29937 OTTHUMP00000218276;UPF0235 protein C15orf40;hypothetical protein LOC123207 protein-coding ENSG00000169609 HGNC:28443 14538 VALIDATED 1601684 C15orf53 chromosome 15 open reading frame 53 ASSOCIATED WITH Melanoma (inferred) 15 15 15 q14 15755804 15759245 + 38988799 38992239 + 38696598 38700038 + 8554872 12477932;14702039;18711365;19488044;20351715;21926972 400359 Q8NAA6 ABBA01038476;AC104261;AK093014;AMYH02030218;BC119016;BC119810;CH471125;NM_207444 AAI19017;AAI19811;BAC04019;EAW92373;NP_997327;Q8NAA6 Hs.448785 FLJ35695;MGC148119 OTTHUMP00000160278;hypothetical protein LOC400359;uncharacterized protein C15orf53 protein-coding ENSG00000175779 HGNC:33796 13418 VALIDATED 1601683 C15orf54 chromosome 15 open reading frame 54 INTERACTS WITH cobalt dichloride 15 15 15 q14 16304366 16308529 + 39542885 39547048 + 39250684 39254847 + 6480464 12477932;14702039;21348951;23934736 400360 Q8N8G6 ABBA01038472;AC013652;AK096850;AMYH02030225;BC137300;BC137301;BC171789;BX647708;CH471125;NM_207445 AAI37301;AAI37302;AAI71789;BAC04876;EAW92378;NP_997328;Q8N8G6 Hs.376109 FLJ39531 OTTHUMP00000160280;putative uncharacterized protein C15orf54 protein-coding ENSG00000175746 HGNC:33797 13437 VALIDATED 1601736 C15orf48 chromosome 15 open reading frame 48 This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012] 15 15 15 q21.1 22614182 22617066 + 45722727 45725647 + 45430529 45433449 + 6480464 12209954;12477932;15489334;16434596;18636205;20877624;21988832;22464673 84419 H0YKW5;Q9C002 AA493534;AB026707;ABBA01039183;AC025580;AF228422;AK026298;AMYH02030357;BC021173;BM312626;CA865860;CH471082;CS300715;DB447060;NM_032413;NM_197955 AAH21173;AAK00708;ABM82120;ABM85294;BAB61021;CAK32379;EAW77312;EAW77313;NP_115789;NP_922946;Q9C002 Hs.112242 1651349 RH106 FLJ22645;FOAP-11;MGC32925;NMES1 OTTHUMP00000162117;normal mucosa of esophagus specific 1;normal mucosa of esophagus-specific gene 1 protein APPROVED protein-coding ENSG00000166920 HGNC:29898 16332 608409 REVIEWED 2289749 C15orf56 chromosome 15 open reading frame 56 15 15 15 q15.1 17308841 17311083 - 40542865 40545110 - 40250664 40252909 - 12477932;14702039 644809 H0YNI1;Q8N910 ABBA01038456;AC020658;AI300379;AK095915;AMYH02030234;BC061900;NG_033169;NM_001039905 BAC04647;NP_001034994;Q8N910 Hs.631718 1700574;1707852;2118217 RH103909;SHGC-56872;SHGC-82160 FLJ38596 putative uncharacterized protein C15orf56 protein-coding ENSG00000176753 HGNC:33868 VALIDATED 2302457 C15orf61 chromosome 15 open reading frame 61 FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; copper(2+) sulfate 15 15 15 q23 44701061 44707180 + 67813522 67819641 + 67521184 67527303 + 6480464 14702039;16572171;8889548 145853 A6NNL5;H0YN13 ABBA01038799;AC016355;AK294012;AMYH02030669;AY726587;BM664696;CH471082;CK903599;NM_001143936 A6NNL5;BAG57373;EAW77798;NP_001137408 Hs.438385 FLJ59587 hypothetical protein LOC145853;uncharacterized protein C15orf61 protein-coding HGNC:34453 VALIDATED 2299194 C15orf62 chromosome 15 open reading frame 62 ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 17beta-estradiol 15 15 15 q15.1 17830052 17832540 + 41062159 41064647 + 40769961 40772449 + 6480464;8554872 12477932;14702039;16344560;16572171;19913121;20628086;8889548 643338 A8K5M9 ABBA01038432;AC012476;AK291344;AMYH02030255;BC027487;BM706032;CN478592;DA761028;NM_001130448 A8K5M9;BAF84033;NP_001123920 Hs.631715 hypothetical protein LOC643338;uncharacterized protein C15orf62, mitochondrial;uncharacterized protein FLJ75552, mitochondrial protein-coding ENSG00000188277 HGNC:34489 VALIDATED 1605016 C15orf57 chromosome 15 open reading frame 57 INTERACTS WITH 2-methylcholine; cadmium atom; copper atom 15 15 15 q15.1 17611408 17625148 - 40824083 40857252 - 40531341 40565057 - 6480464 12477932;14702039;15342556;17207965;20016921;21044950 90416 H0YLI5;H0YLN5;H0YM19;H0YMC0;H0YN78;Q9BV29 ABBA01038445;ABBA01038446;AC091045;AK092214;AK098781;AK293079;AK312842;AL832032;AMYH02030243;BC001673;BC012189;BG709516;BP202606;BP289634;BQ878848;BU657334;BX404085;CD686743;CH471125;M79093;NM_001080791;NM_001080792;NM_001289132;NM_052849 AAH01673;ADQ32092;BAC03831;BAC05411;BAF85768;CAD89911;EAW92420;EAW92421;EAW92422;EAW92423;EAW92424;EAW92425;EAW92426;EAW92427;NP_001074260;NP_001074261;NP_001276061;NP_443081;Q9BV29 Hs.654661 1648644;1754569;1858499;2141851;2180257;5015619;5020948;5037552;5109281 2068;D11S3114;D1S1425;D8S2279;G35510;RH45958;SHGC-132857;SHGC-24371;WI-22288 CCDC32;FLJ25915;MGC20481 OTTHUMP00000160454;coiled-coil domain containing 32;uncharacterized protein C15orf57 protein-coding ENSG00000128891 HGNC:28295 14473 VALIDATED 2298735 C15orf59 chromosome 15 open reading frame 59 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH progesterone; silicon dioxide; indole-3-methanol (ortholog) 15 15 15 q24.1 50911962 50923642 - 74027772 74045495 - 73735431 73753153 - 6480464;8554872 12477932;21382349;23080069 388135 H0YKG6;Q2T9L4 ABBA01038707;AC022188;AK124841;AL360257;AMYH02030776;AMYH02030777;AMYH02030778;BC111368;NM_001039614;XM_005254369 AAI11369;NP_001034703;Q2T9L4;XP_005254426 Hs.213493;Hs.40794 1789110;2152964 G65689;WI-21596 MGC131524 UPF0583 protein C15orf59;hypothetical protein LOC388135 protein-coding ENSG00000205363 HGNC:33753 PREDICTED 1351577 C16orf12 chromosome 16 open reading frame 12 64491 HGNC:14140 1345370 C16orf10 chromosome 16 open reading frame 10 p13.3 64493 AW298011 protein-coding HGNC:14138 1344697 C16orf15 chromosome 16 open reading frame 15 64488 HGNC:14143 1602266 C15orf52 chromosome 15 open reading frame 52 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; copper(2+) sulfate 15 15 15 q15.1 17389636 17399151 - 40623653 40633168 - 40331452 40340967 - 6480464;8554872 12477932;16344560;24457600;8889548 388115 H0YK65;H0YM82;Q6ZUT6 ABBA01038453;AC013356;AK124643;AK125329;AK126035;AK126485;AMYH02030237;BC015670;BC140897;BC140902;BM716672;BQ690903;BU618720;CH471125;CR749408;DA106198;DA892533;NM_207380 AAI40898;AAI40903;BAC86132;BAC86405;CAH18251;EAW92404;EAW92405;NP_997263;Q6ZUT6 Hs.32433 2177066;2191445;5123933 MARC_23447-23448:1027106168:1;RH78611;WI-16206 DKFZp686N1468;FLJ43339 OTTHUMP00000198225;hypothetical protein LOC388115;uncharacterized protein C15orf52 protein-coding HGNC:33488 16964 VALIDATED 1353125 C16orf16 chromosome 16 open reading frame 16 64487 HGNC:14144 1347842 C16orf18 chromosome 16 open reading frame 18 64485 HGNC:14146 1353490 C16orf19 chromosome 16 open reading frame 19 64484 HGNC:14147 7245658 C15orf65 chromosome 15 open reading frame 65 INTERACTS WITH valproic acid; cadmium dichloride (ortholog); titanium dioxide (ortholog) 15 15 15 q21.3 32589318 32599479 + 55700723 55710910 + 55408525 55418712 + 6480464 145788 H3BRN8 ABBA01039025;AC013355;AK130862;AMYH02030486;AV735277;BX648577;CH471082;NM_001198784 EAW77489;H3BRN8;NP_001185713 Hs.97300 1688096;2184087 RH92020;WI-18393 uncharacterized protein C15orf65;uncharacterized protein LOC145788 protein-coding ENSG00000261652 HGNC:44654 VALIDATED 1345079 C16orf20 chromosome 16 open reading frame 20 64483 H3BMF2;H3BN60;H3BVG3 HGNC:14148 1351241 C16orf17 chromosome 16 open reading frame 17 64486 HGNC:14145 1353722 C16orf2 chromosome 16 open reading frame 2 749 HGNC:1196 1347623 C16orf21 chromosome 16 open reading frame 21 64482 HGNC:14149 1344022 C16orf27 chromosome 16 open reading frame 27 64740 HGNC:14155 1603944 C16orf13 chromosome 16 open reading frame 13 INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; dimethyl sulfoxide 16 16 16 p13.3 884563 886515 - 684429 686371 - 634427 636366 - 6480464 11157797;12477932;14702039;15342556;16341674;21139048;22939629 84326 H3BMF3;H3BNB2;H3BNT3;H3BQ55;H3BRT2;H3BS73;Q96S19 ABBA01030360;AE006464;AI146806;AK057077;AK294482;AK295628;AL022341;AMYH02031198;AW027232;BC007207;BC047118;BG612714;BI762987;BM827705;BP273946;BP276058;BQ921757;BU539308;BX104467;C00865;CH471112;CK904040;DB499720;NM_001040160;NM_001040161;NM_001040162;NM_001040165;NM_001288710;NM_032366;NR_109976;NR_109977;NR_109978;NR_109979;Z84479 AAH07207;AAH47118;AAK61238;BAB71362;BAG57706;BAG58505;EAW85784;EAW85785;EAW85786;EAW85787;EAW85788;EAW85789;NP_001035250;NP_001035251;NP_001035252;NP_001035255;NP_001275639;NP_115742;Q96S19 Hs.239500 JFP2;MGC13114 UPF0585 protein C16orf13;hypothetical protein LOC84326 protein-coding ENSG00000130731 HGNC:14141 17482 VALIDATED 1353914 C16orf43 chromosome 16 open reading frame 43 64720 HGNC:14176 1349511 C16orf29 chromosome 16 open reading frame 29 64738 HGNC:14157 1353054 C16orf31 chromosome 16 open reading frame 31 64736 HGNC:14159 1348125 C16orf28 chromosome 16 open reading frame 28 ENCODES a protein that exhibits ligase activity (inferred); zinc ion binding (inferred); INVOLVED IN protein ubiquitination (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred) p13.3 11157797;12477932;14702039;15489334;15616553;15761153;16344560;8889548 65259 AE006467;AK022685;AK027013;AL031709;AL031721;BC000150;BQ776895;CF136587;CH471112;DA558634;DA739764;NM_023076 AAH00150;AAK61278;BAB14178;BAB15626;EAW85662;EAW85663;EAW85664;NP_075564;Q9H9P5 Hs.598368;Hs.643536 FLJ23360 protein-coding HGNC:14156 08025 1345550 C16orf45 chromosome 16 open reading frame 45 INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 16 16 16 p13.11 15208794 15362586 + 15528325 15682116 + 15434468 15588259 + 6480464 10493829;12477932;14702039;15489334;16169070;17207965;21139048;21906983;24250222;24722188 89927 H3BP34;H3BR56;H3BRF6;H3BTT5;H3BU79;H3BUY6;Q96MC5 ABBA01048890;ABBA01048891;ABBA01048892;ABBA01048893;ABBA01048894;ABBA01048895;ABBA01048896;ABBA01048897;ABBA01048898;ABBA01048899;AC026401;AC140504;AC243733;AC243742;AI377644;AK057180;AK293431;BC008967;BC023603;CH471226;KC877585;KC877586;NM_001142469;NM_033201;U95740 AAC31663;AAH08967;AAH23603;ADQ32126;BAB71376;BAG56936;EAW53916;EAW53917;EAW53918;NP_001135941;NP_149978;Q96MC5 Hs.401798 1688064;1740523;2121873;2128277;2132061;2168279;2173473 D16S3177;D16S3345;RH41898;RH65283;SHGC-33692;SHGC-56757;STS-AA027340 FLJ32618 OTTHUMP00000160327;hypothetical protein LOC89927;uncharacterized protein C16orf45 protein-coding ENSG00000166780 HGNC:19213 12382 VALIDATED 1345260 C16orf46 chromosome 16 open reading frame 46 FOUND IN cytoplasm; nucleus; INTERACTS WITH (+)-catechin; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; methyl methanesulfonate 16 16 16 q23.2 65385500 65409274 - 81087102 81110872 - 81053497 81077267 - 6480464 12477932;14702039;16344560;18029348;18951430;20379614 123775 H3BQQ0;Q6P387 AA905107;ABBA01016985;AC092718;AK057264;AK295411;AMYH02032504;BC064143;CH471114;DA525473;NM_001100873;NM_152337;XM_005255791;XM_005255792 AAH64143;BAB71401;BAG58362;EAW95548;NP_001094343;NP_689550;Q6P387;XP_005255848;XP_005255849 Hs.658684 1668970;1723737;2141201;5093854 A009X43;G32963;RH118758;RH17564 FLJ32702 OTTHUMP00000174976;OTTHUMP00000174977;uncharacterized protein C16orf46 protein-coding ENSG00000166455 HGNC:26525 08730 VALIDATED 2302534 C16orf52 chromosome 16 open reading frame 52 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; calcitriol 16 16 16 p12.2 20798365 20875858 + 22019456 22095975 + 22008135 22087535 + 6480464;8554872 12477932;14702039;15489334;15616553 730094 H3BP60;H3BQB3;H3BS23;Q8NHV5 ABBA01003849;ABBA01003850;AC009019;AC092119;AC243828;AF086142;AK095585;BC027604;BC045557;BC053950;KC877596;NM_001164579;XR_429679 NP_001158051;Q8NHV5 Hs.498890 1680841;1685245;1698320;1858528;2147779;2151451;2174789;5092862 A009B15;G32377;RH102700;RH64983;RH65214;RH93574;SHGC-56785;WI-20621 MGC26782 hypothetical protein LOC730094;uncharacterized protein C16orf52 protein-coding ENSG00000185716 HGNC:27087 VALIDATED 1344443 C16orf47 chromosome 16 open reading frame 47 16 16 16 q22.3 57475779 57485718 - 73160536 73178346 - 73126638 73144447 - 14702039;19010793 388289 Q6ZP98 ABBA01016811;AC116667;AK129695;AMYH02032355;CH471166;LN608613;NM_207385 BAC85221;EAW59166;NP_997268;Q6ZP98 Hs.371893 1747867 G66805 putative uncharacterized protein C16orf47 protein-coding HGNC:28329 16623 VALIDATED 1353331 C16orf6 chromosome 16 open reading frame 6 26588 HGNC:1199 1605828 C16orf54 chromosome 16 open reading frame 54 FOUND IN integral component of membrane (inferred) 16 16 16 p11.2 73038911 73042469 + 29753784 29757340 - 29742463 29746019 - 10493829;11181995;12477932;12975309;14702039;15489334;16344560;22505724 283897 Q6UWD8 ABBA01013119;AC002301;AC009133;AC243914;AK093000;AY358833;BC025741;BC104466;BC104467;CH471238;DA427069;NM_175900 AAI04467;AAI04468;AAQ89192;BAC04015;EAW80012;NP_787096;Q6UWD8 Hs.331095 FLJ35681;MGC129957;MGC129958 OTTHUMP00000162996;transmembrane protein C16orf54 protein-coding ENSG00000185905 HGNC:26649 08183 VALIDATED 1601979 C16orf58 chromosome 16 open reading frame 58 This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013] 16 16 16 p11.2 28788683 28807579 + 31500796 31519740 - 31489475 31508419 - 6480464;8554872 12477932;14702039;15489334;16344560;19515790;19946888;21890473;21906983;23000965;8125298 64755 B4DJP2;H3BR29;H3BS97;H3BSM7;H3BTA0;I3L2V0;Q96GQ5 ABBA01042096;AC026471;AK000679;AK023930;AK092580;AK222913;AK296166;AK296491;AK304608;AL834462;AMYH02031852;BC000822;BC009308;BC054514;BC059952;CA448699;CH471192;DA742232;NG_033149;NM_022744 AAH00822;AAH09308;BAB14730;BAC03918;BAD96633;BAG58904;BAG59128;BAG65393;EAW52119;EAW52120;EAW52121;EAW52122;NP_073581;Q96GQ5 Hs.499102;Hs.9003 1679163;1679167;1683633;1693740;1761637;1849376 RH65072;RH69206;RH98795;SHGC-145625;SHGC-58809;SHGC-61098 FLJ13868;RUS OTTHUMP00000163300;UPF0420 protein C16orf58;hypothetical protein LOC64755 protein-coding ENSG00000140688 HGNC:25848 07839 VALIDATED 1604592 C16orf70 chromosome 16 open reading frame 70 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; cyclosporin A; formaldehyde 16 16 16 q22.1 51652166 51690685 + 67143801 67182442 + 67109899 67148539 + 6480464;8554872 10846156;12477932;14529721;14702039;15489334;16713569;19773279;19913121;20628086;21048031;21139048;21832049;22939629;24250222;9822620 80262 H3BRA5;H3BS58;H3BSG0;J3QRI8;Q9BSU1 ABBA01025429;ABBA01025430;ABBA01025431;AC074143;AF176088;AK022138;AMYH02032224;AMYH02032225;BC004556;CH471092;NM_025187;XM_005256177;XM_005256178;XM_006721284 AAH04556;AAK96888;ADZ15338;BAB13968;EAW83072;EAW83073;EAW83074;EAW83075;EAW83076;EAW83077;EAW83078;NP_079463;Q9BSU1;XP_005256234;XP_005256235;XP_006721347 Hs.513666 1672105;1682680;1738757;2146873;2162615;5015861;5037552;7185938 D10S16;D16S2584E;D16S2846;D8S2279;RH44529;RH70212;RH80598 C16orf6;FLJ12076;LIN10;lin-10 OTTHUMP00000174804;UPF0183 protein C16orf70;lin-10 homolog protein-coding ENSG00000125149 HGNC:29564 17460 PROVISIONAL 1604787 C16orf59 chromosome 16 open reading frame 59 INTERACTS WITH atrazine; calcitriol; copper atom 16 16 16 p13.3 2724490 2729339 + 2510115 2514964 + 2460102 2464963 + 6480464 12477932;14702039;16484223;21906983;23455924 80178 H3BND0;H3BPH1;H3BTF6;H3BU38;Q7L2K0 ABBA01030256;AC106820;AK023971;AK093788;AK128408;AK301929;AL559561;AMYH02031252;BC008882;BC018719;CH471112;CR457319;NM_025108;XM_006720955 AAH08882;AAH18719;ACE87026;ADZ15571;BAB14745;BAG63349;CAG33600;EAW85505;EAW85506;EAW85507;EAW85508;EAW85509;NP_079384;Q7L2K0;XP_006721018 Hs.534491 1655168;1677304 RH98649;SHGC-34827 FLJ13909 OTTHUMP00000159082;hypothetical protein LOC80178;uncharacterized protein C16orf59 protein-coding ENSG00000162062 HGNC:25849 07840 VALIDATED 1603979 C16orf62 chromosome 16 open reading frame 62 FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); calcitriol; cyclosporin A 16 16 16 p12.3 18716038 18861405 + 19566737 19712485 + 19555415 19701163 + 6480464 10493829;11230166;12477932;14702039;15342556;16344560;19913121;20379614;20532202;20628086;21139048;21890473;21906983 57020 C9J7I2;E7EWW0;F5H7K1;F6S1J4;G5E9I3;H0YFG6;H3BNX2;H3BRV8;H3BTI5;H3BUS7;H3BV68;H3BVG8;I3L1U5;Q7Z3J2 ABBA01028264;ABBA01028265;AC002550;AC012621;AF461052;AK024693;AK095078;AK290286;AK294885;AL136744;AL832159;AL833428;AMYH02031649;AMYH02031650;AMYH02031651;BC014900;BC050464;BC058845;BP219237;BX537867;CH471186;DA452318;DC322427;NM_001300743;NM_020314;XM_005255435;XM_005255436;XM_006721065 AAC05806;AAH14900;AAH50464;AAH58845;AAL67806;ACE86683;ACE87367;BAB14965;BAF82975;BAG52981;BAG57979;CAB66678;CAD97869;CAH10399;EAW50289;EAW50290;EAW50291;NP_001287672;NP_064710;Q7Z3J2;XP_005255492;XP_005255493;XP_006721128 Hs.654964 1647405;1673145;1681012;1738591;2148546;2152810;2157460;2159756;2174702;2177537;5015404;5022651 D11S2921;D16S2594E;D16S2745;L17705;RH65185;RH69435;SHGC-53577;SHGC-60519;SHGC-60588;SHGC-60595;SHGC-60633;STS-AA024457 DKFZp313M0539;DKFZp434B0212;FLJ21040;MGC16824 OTTHUMP00000237331;OTTHUMP00000237332;UPF0505 protein C16orf62;esophageal cancer associated protein;esophageal cancer-associated protein;hypothetical protein LOC57020 protein-coding ENSG00000103544 HGNC:24641 14455 VALIDATED 1606021 C16orf72 chromosome 16 open reading frame 72 INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; crocidolite asbestos 16 16 16 p13.2 9353303 9381316 + 9185537 9213555 + 9091680 9119698 + 6480464 12477932;14702039;19322201;23942779;24722188;8889548 29035 Q14CZ0;Q9UI82 ABBA01019742;AC087190;AK123266;AMYH02031418;BC029878;BC113570;BI831003;BM975140;CB959956;CH471112;NM_014117 AAI13571;ADR82920;EAW85189;NP_054836;Q14CZ0 Hs.221497 1666405;1677576;1700544;1700930;1738545;1774877;1775667;1846596;1856005;2166111;2168873;5022038 A005B05;C160rf72;D16S2718;RH103893;RH104092;RH69874;RH70039;SHGC-60747;SHGC-60749;SHGC-60790;SHGC-61077;WI-12288 FLJ41272;PRO0149 OTTHUMP00000160111;UPF0472 protein C16orf72;hypothetical protein LOC29035 protein-coding HGNC:30103 17910 VALIDATED 1606366 C16orf74 chromosome 16 open reading frame 74 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; amiodarone 16 16 16 q24.1 70044265 70087824 - 85741123 85784689 - 85707510 85751083 - 6480464 12107413;12477932;15489334;16189514;21203532 404550 Q96GX8;R4GMV5;R4GMY0;R4GN89;R4GNJ3 ABBA01034277;AC018695;AMYH02032597;AMYH02032598;AMYH02032599;AW072412;BC009078;CD674248;CH471114;CQ800176;CS502806;NM_206967;XM_006721191 CAG27584;CAM83960;EAW95441;EAW95442;NP_996850;Q96GX8;XP_006721254 Hs.461655 1852363 SHGC-60803 MGC17624 hypothetical protein LOC404550;uncharacterized protein C16orf74 protein-coding ENSG00000154102 HGNC:23362 14460 VALIDATED 1604523 C16orf71 chromosome 16 open reading frame 71 16 16 16 p13.3 4993069 5008177 + 4784289 4799397 + 4734288 4749396 + 12477932 146562 K7ENX3;K7EPW6;Q8IYS4 ABBA01026784;AC020663;AF447587;AK125251;AK301794;AMYH02031328;BC035024;BI458862;BX648126;CH471112;NM_139170;XM_005255144;XM_006720851 AAH35024;AAM22870;ACE86621;ACE87302;BAG54174;BAG63247;EAW85267;EAW85268;NP_631909;Q8IYS4;XP_005255201;XP_006720914 Hs.602738 2218684 ZNF500__4861 DKFZp686H2240;FLJ43261 OTTHUMP00000159855;hypothetical protein LOC146562;uncharacterized protein C16orf71 protein-coding ENSG00000166246 HGNC:25081 11238 VALIDATED 1606639 C16orf85 chromosome 16 open reading frame 85 q24.2 400555 AC116552;AK127438;NM_001001682 AAI48582;AAI53154;BAC86980;NP_001001682;Q6ZSH3 Hs.120392 1758345 SHGC-148099 FLJ45530 protein-coding HGNC:33799 13509 1605880 C16orf78 chromosome 16 open reading frame 78 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH copper(2+) sulfate 16 16 16 q12.1 33919770 33945283 + 49407808 49433321 + 49373897 49399410 + 6480464;8554872 12477932;17207965;21890473;22219177;23602568 123970 Q8WTQ4 ABBA01000894;AC007614;AMYH02031997;BC021181;BC021718;CH471092;HC006816;NM_144602 AAH21181;AAH21718;ADQ31886;CBH19214;EAW82734;NP_653203;Q8WTQ4 Hs.125875 1738617;1757133 D16S2759;SHGC-144568 MGC33367 OTTHUMP00000164196;hypothetical protein LOC123970;uncharacterized protein C16orf78 protein-coding ENSG00000166152 HGNC:28479 14560 PREDICTED 1602175 C16orf82 chromosome 16 open reading frame 82 ASSOCIATED WITH Melanoma (inferred) 16 16 16 p12.1 25854262 25856530 + 27078219 27080487 + 27066898 27069166 + 8554872 12477932;15489334 162083 Q7Z2V1 ABBA01017146;AC092725;AF536240;AI025812;AK311574;AMYH02031762;AW450252;BC031257;BC136370;BC136382;CH471145;HG507882;NM_001145545 AAH31257;AAI36371;AAI36383;AAP97728;EAW55761;NP_001139017;Q7Z2V1 Hs.120831 1697072 RH102017 FLJ18616;TNT OTTHUMP00000220950 protein-coding HGNC:30755 18211 VALIDATED 1604692 C16orf86 chromosome 16 open reading frame 86 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine 16 16 16 q22.1 52209207 52211151 + 67700662 67702661 + 67666793 67668758 + 8554872 12477932 388284 F8WFD6;Q6ZW13;R4GNF0 ABBA01025451;AC010530;AK123796;AMYH02032239;BC032064;BC041612;BC064498;BC082249;BC132878;BC132880;CA432406;CH471092;NM_001012984;XM_005255952 BAC85694;EAW83162;EAW83163;EAW83164;NP_001013002;Q6ZW13;XP_005256009 Hs.632208 OTTHUMP00000197746;hypothetical protein LOC388284;uncharacterized protein C16orf86 protein-coding ENSG00000159761 HGNC:33755 18380 VALIDATED 1604693 C16orf87 chromosome 16 open reading frame 87 INTERACTS WITH benzo[a]pyrene diol epoxide I; quercetin; trichostatin A 16 16 16 q11.2 31344142 31373247 - 46835959 46865074 - 46802047 46831162 - 6480464 12477932;17207965;19322201;23752268;24250222;24816145 388272 H3BQL3;Q6PH81 ABBA01013767;AC007225;AMYH02031968;BC056676;BX647945;CH471092;NM_001001436 AAH56676;ADQ32180;CAH56192;EAW82689;NP_001001436;Q6PH81 Hs.406551 1676966;2108431;5015861;5022578;5022651;7185938 D10S16;D11S2921;D1S1423;RH78494;RPL36AL_8599 MGC62018 OTTHUMP00000163360;UPF0547 protein C16orf87;hypothetical protein LOC388272 protein-coding ENSG00000155330 HGNC:33754 17370 PREDICTED 1602067 C16orf89 chromosome 16 open reading frame 89 This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 16 16 16 p13.3 5303508 5325498 - 5092925 5116146 - 5042967 5066145 - 6480464;8554872 12477932;12975309;15197164;16303743;19056867;20578903;21145461 146556 Q6UX73 ABBA01026798;AC026458;AK075242;AK300708;AMYH02031331;AMYH02031332;AY358483;BC033681;CF272639;CH471112;CQ783348;NG_030316;NM_001098514;NM_152459;XM_005255143 AAH33681;AAQ88847;BAC11494;BAG62387;CAF86554;EAW85242;EAW85243;EAW85244;NP_001091984;NP_689672;Q6UX73;XP_005255200 Hs.11782 1698816;2107385;2168594;5022578;5022651 D11S2921;D16S3329;D1S1423;MGC45438__7717;RH102972 MGC45438 OTTHUMP00000214789;OTTHUMP00000214790;OTTHUMP00000214791;UPF0764 protein C16orf89;hypothetical protein LOC146556 APPROVED protein-coding ENSG00000153446 HGNC:28687 11353 VALIDATED 2303333 C16orf90 chromosome 16 open reading frame 90 16 16 16 p13.3 3750264 3752201 - 3543484 3545758 - 3493484 3495758 - 646174 A8MZG2;H0Y3R3 ABBA01026740;AC004224;AMYH02031292;NM_001080524;XM_005255502 A8MZG2;NP_001073993;XP_005255559 Hs.632224 2177987 RH41812 OTTHUMP00000210840;OTTHUMP00000210841;hypothetical protein LOC646174;uncharacterized protein C16orf90 protein-coding ENSG00000215131 HGNC:34455 PREDICTED 2306470 C16orf92 chromosome 16 open reading frame 92 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred) 16 16 16 p11.2 72759701 72761069 - 30034655 30036023 + 30023334 30024702 + 8554872 12477932 146378 H3BMV0;H3BSP6;H3BVC3;Q96LL3 ABBA01013109;AC093512;AC243947;AK058133;BC101433;BC101434;BC101435;BC101436;BC127955;CH471238;NM_001109659;NM_001109660 AAI01434;AAI01435;AAI01436;AAI01437;AAI27956;BAB71678;EAW79941;NP_001103129;NP_001103130;Q96LL3 Hs.651588 1675614;5493551 RH78407;UniSTS:487197 FLJ25404;MGC125422 hypothetical protein LOC146378;uncharacterized protein C16orf92 protein-coding ENSG00000167194 HGNC:26346 PREDICTED 5132711 C16orf95 chromosome 16 open reading frame 95 16 16 16 q24.2 71633096 71647671 - 87336404 87351468 - 87302798 87317420 - 11076863;11181995;12477932;15489336;16344560;16381901;18487259 100506581 H3BNZ7;Q9H693 AB371437;ABBA01034327;AC010531;AK026130;AL136762;AMYH02032614;BC015536;BI460222;BU839368;CH471114;DA871621;NM_001195124;NM_001195125;NM_001256917 BAB15370;CAL37700;CAL37948;EAW95406;EAW95407;EAW95408;NP_001182053;NP_001182054;NP_001243846;Q9H693 Hs.729380 1677170 RH99238 DKFZp434J1815;FLJ22477 hypothetical protein LOC100506581;uncharacterized protein C16orf95 protein-coding ENSG00000260456 HGNC:40033 VALIDATED 1603940 C16orf93 chromosome 16 open reading frame 93 INTERACTS WITH methyl methanesulfonate 16 16 16 p11.2 29523901 29528691 + 30768733 30773598 - 30757423 30762277 - 6480464 12477932 90835 A1A4V9;F5H7A8;H0YGC5;H3BNW1;H3BTQ9 ABBA01042056;AC106886;AK307279;AL122109;AMYH02031829;BC042548;BC063391;BC073881;BC092491;BC128128;BC128129;BI829598;CH471192;NG_016616;NM_001014979;NM_001195620;XM_005255667;XM_005255668;XM_005255670;XM_006721100;XM_006721101;XM_006721102 A1A4V9;AAH92491;AAI28129;AAI28130;EAW52201;EAW52202;EAW52203;EAW52204;EAW52205;EAW52206;NP_001014979;NP_001182549;XP_005255724;XP_005255725;XP_005255727;XP_006721163;XP_006721164;XP_006721165 Hs.724010 1676350;1677718;1677848;1686246;1690656 RH65200;RH69119;RH79848;RH79900;RH92783 MGC104706 OTTHUMP00000237342;OTTHUMP00000237343;coiled-coil domain-containing protein C16orf93;hypothetical protein LOC90835 protein-coding ENSG00000196118 HGNC:28078 18705 VALIDATED 7205296 C16orf97 chromosome 16 open reading frame 97 16 16 16 q12.1 36575794 36623386 - 52060264 52107847 - 52026352 52073935 - 11181995 388276 H3BN30;H3BSQ4;I3L0Q7 ABBA01066468;ABBA01066469;AC009039;AMYH02032030;BX096212;CH471092;NM_001242473 EAW82782;H3BN30;NP_001229402 Hs.534669 hCG2045437;uncharacterized protein C16orf97;uncharacterized protein LOC388276 protein-coding ENSG00000261190 HGNC:44658 VALIDATED 1353497 C17orf10 chromosome 17 open reading frame 10 53396 HGNC:1201 1605551 C16orf91 chromosome 16 open reading frame 91 ASSOCIATED WITH Mucolipidosis III Gamma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH cisplatin; zinc atom; zinc(0) 16 16 16 p13.3 1682542 1691944 - 1469745 1470801 - 1419744 1420800 - 6480464;8554872 11157797;12477932 283951 H3BP47;Q4G0I0 ABBA01030307;AE006467;AL032819;AMYH02031230;AW014549;BC023590;BC092497;BQ962326;CH471112;CS072388;NM_001272051 AAH92497;AAI40335;AAI46484;AAK61280;CAI93526;EAW85657;EAW85658;NP_001258980;Q4G0I0 Hs.58373 1768038 RH47026 CCSMST1;MGC104723;gs103 cattle cerebrum and skeletal muscle-specific protein 1 family member protein-coding ENSG00000174109 HGNC:27558 17332 VALIDATED 5487050 C16orf96 chromosome 16 open reading frame 96 16 16 16 p13.3 4815346 4859179 + 4606330 4650435 + 4556329 4600434 + 15616553;23251661 342346 A6NNT2 ABBA01026778;ABBA01026779;ABBA01026780;ABBA01026781;AC023830;AMYH02031325;AMYH02031326;NM_001145011;XM_005255298;XM_005255299;XM_005255300;XM_005255301 A6NNT2;NP_001138483;XP_005255355;XP_005255356;XP_005255357;XP_005255358 Hs.684212 1677354 RH41222 hypothetical protein LOC342346;putative uncharacterized protein C16orf96 protein-coding ENSG00000205832 HGNC:40031 PREDICTED 2299982 C17orf100 chromosome 17 open reading frame 100 INTERACTS WITH benzo[a]pyrene; cyclosporin A; hydrogen peroxide 17 17 17 p13.1 6576124 6577683 + 6555059 6556617 + 6651739 6653298 + 6480464 11181995;12477932 388327 A8MU93;D3DTM5 ABBA01054836;AC004706;AMYH02032876;BC028174;BC038956;BC052606;BC067087;BC082254;BX488537;CH471108;KF573667;LN608627;NM_001105520 A8MU93;EAW90297;EAW90298;NP_001098990 Hs.262480 2189517;2190225;2190227 ALOX15-A611G;ALOX15-F4-R4;G73120 OTTHUMP00000163267;hCG1985469;hypothetical protein LOC388327;uncharacterized protein C17orf100 protein-coding HGNC:34494 VALIDATED 1606635 C17orf102 chromosome 17 open reading frame 102 17 17 17 q12 29811365 29816611 - 32901142 32906388 - 34574123 34579369 - 12477932;14702039;15489334 400591 A2RUQ5 ABBA01011216;AC005691;AK126768;AMYH02033339;BC133004;BC136710;BC142651;NM_207454 A2RUQ5;AAI33005;AAI36711;AAI42652;BAC86680;NP_997337 Hs.514090 FLJ44815 OTTHUMP00000210918;hypothetical protein LOC400591;uncharacterized protein C17orf102 protein-coding ENSG00000197322 HGNC:34412 16975 VALIDATED 3458383 C17orf105 chromosome 17 open reading frame 105 INTERACTS WITH (+)-catechin; lead(0); lead(2+) 17 17 17 q21.31 38565804 38570055 + 41857803 41862054 + 43780435 43784686 + 6480464 12477932 284067 B2RV13;K7ER76 ABBA01028400;AC003098;AK125817;AMYH02033463;BC054872;BC070324;BC146971;HC007090;HC044751;NM_001136483 AAI46972;B2RV13;CBH19350;CBH30705;NP_001129955 Hs.252707 1733444;5015879;5037552 D17S1225;D8S2279;GDB:314949 FLJ43829 hypothetical protein LOC284067;uncharacterized protein C17orf105 protein-coding HGNC:37241 PREDICTED 1605246 C17orf104 chromosome 17 open reading frame 104 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,3',5-triiodo-L-thyronine; arsenite(3-); valproic acid 17 17 17 q21.31 39444254 39463671 + 42733762 42755673 + 44656394 44677368 + 6480464;8554872 12477932;14702039;8889549 284071 A2RUB1;C9J4A2;C9JC06;C9JYK8;K7EPA7 AA205120;ABBA01028356;ABBA01028357;ABBA01028358;AC091152;AK093167;AK097747;AK302001;AMYH02033491;AMYH02033492;AMYH02033493;BC035159;BC041481;BC132822;BC136642;CH471178;DB459438;DB460166;DV080633;NM_001145080;XM_005257236;XR_429882 A2RUB1;AAH35159;AAH41481;AAI32823;AAI36643;BAC04083;BAG63404;EAW51590;NP_001138552;XP_005257293 Hs.349758 1682187;5022578;5037552 D1S1423;D8S2279;RH98557 FLJ35848;FLJ40428;MGC43301 OTTHUMP00000202970;hypothetical protein LOC284071;uncharacterized protein C17orf104 APPROVED protein-coding ENSG00000180336 HGNC:26670 18768 VALIDATED 3051040 C17orf107 chromosome 17 open reading frame 107 ASSOCIATED WITH MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (inferred); Myasthenic Syndrome, Congenital, Fast-Channel (inferred); Myasthenic syndrome, congenital, postsynaptic slow-channel (inferred) 17 17 17 p13.2 4817829 4821108 + 4802948 4806227 + 4899653 4902932 + 8554872 100130311 E5RJ01;Q6ZR85 ABBA01054781;AC109333;AC233723;AK128415;AK308530;AK309386;AMYH02032836;AW014012;NG_008029;NM_001145536 BAC87429;NP_001139008;Q6ZR85 Hs.579243 1675505;2122387;2167048;5095183 CHRNE;RH76075;SHGC-11989;WI-19144 FLJ99427 OTTHUMP00000227680;hypothetical protein LOC100130311;uncharacterized protein C17orf107 protein-coding ENSG00000205710 HGNC:37238 VALIDATED 6483734 C17orf112 chromosome 17 open reading frame 112 17 17 51062879 51065012 + 52985519 52987652 + 100506650 F2Z3M2 ABBA01041273;AC102948;AI126620;AMYH02033633;BX103358;LN608653;NM_001243552;XM_005256919 F2Z3M2;NP_001230481;XP_005256976 Hs.146556 uncharacterized protein C17orf112;uncharacterized protein LOC100506650 protein-coding ENSG00000227011 HGNC:42963 VALIDATED 1348105 C17orf12 chromosome 17 open reading frame 12 p13.3 53394 AJ276252 Hs.684572 protein-coding HGNC:1203 1351090 C17orf14 chromosome 17 open reading frame 14 p13.3 53392 AJ276255 protein-coding HGNC:1205 1344830 C17orf11 chromosome 17 open reading frame 11 53395 AJ276251 protein-coding HGNC:1202 1347951 C17orf13 chromosome 17 open reading frame 13 p13.3 53393 AJ276253;BX119309;BX502008 Hs.659206 protein-coding HGNC:1204 1351954 C17orf16 chromosome 17 open reading frame 16 53390 HGNC:1207 1346325 C17orf17 chromosome 17 open reading frame 17 53389 HGNC:1208 1354402 C17orf19 chromosome 17 open reading frame 19 53387 HGNC:1210 1602729 C17orf2 chromosome 17 open reading frame 2 p13.3 10673334 8316 U53930 protein-coding HGNC:1213 1348490 C17orf15 chromosome 17 open reading frame 15 53391 HGNC:1206 1350625 C17orf20 chromosome 17 open reading frame 20 53386 HGNC:1214 1349410 C17orf18 chromosome 17 open reading frame 18 53388 HGNC:1209 1352014 C17orf4 chromosome 17 open reading frame 4 53402 HGNC:1218 1343641 C17orf21 chromosome 17 open reading frame 21 53385 HGNC:1215 1346844 C17orf22 chromosome 17 open reading frame 22 53384 HGNC:1216 1347909 C17orf33 chromosome 17 open reading frame 33 170794 HGNC:18227 1348577 C17orf5 chromosome 17 open reading frame 5 53401 HGNC:1219 1606738 C17orf49 chromosome 17 open reading frame 49 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); INVOLVED IN chromatin modification (inferred); FOUND IN MLL1 complex; NURF complex; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 17 17 17 p13.1 6943578 6946344 + 6918056 6920843 + 7014737 7017524 + 6480464 11181995;12477932;14702039;15146197;15489334;15960975;16712791;16964243;17207965;20516061;20850016;21139048;22623531;8889548 124944 F8W038;F8W1H0;K7ES76;Q8IXM2 ABBA01054845;AC040977;AI183273;AK055800;AK295795;AMYH02032882;BC040036;BM011108;BU596784;BU730728;CA449884;CB119197;CH471108;CN280697;NM_001142798;NM_001142799;NM_174893 AAH40036;ADQ33067;BAG58615;EAW90278;NP_001136270;NP_001136271;NP_777553;Q8IXM2 Hs.511801 5111633 RH81058 BAP18;MGC49942 BPTF associated protein of 18 kDa;BPTF-associated protein of 18 kDa;HEPIS;MLL1/MLL complex subunit C17orf49;OTTHUMP00000243066;OTTHUMP00000243067;OTTHUMP00000243068;OTTHUMP00000243069;OTTHUMP00000243070;OTTHUMP00000243071;chromatin complexes subunit BAP18;human embryo lung cellular protein interacting with SARS-CoV nsp-10 protein-coding ENSG00000258315 HGNC:28737 14662 VALIDATED 1605244 C17orf47 chromosome 17 open reading frame 47 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cadmium atom 17 17 17 q22 53080745 53083480 - 56618948 56621733 - 58541587 58544372 - 6480464;8554872 12477932;14702039;16344560;23666239 284083 Q8NEP4 ABBA01041340;AC005666;AK097440;AMYH02033690;BC022189;CH471109;DB073141;HC006818;NG_029570;NM_001038704 AAH22189;BAC05054;CBH19215;EAW94439;NP_001033793;Q8NEP4 Hs.646574 FLJ40121 hypothetical protein LOC284083;uncharacterized protein C17orf47 protein-coding ENSG00000181013 HGNC:26844 08269 VALIDATED 1602634 C17orf52 chromosome 17 open reading frame 52 q25.2 12477932 283994 BC038218 Hs.645372 protein-coding HGNC:27562 1603574 C17orf50 chromosome 17 open reading frame 50 17 17 17 q12 30998050 31002232 + 34087890 34092098 + 35760871 35765079 + 12477932;15489334;19913121;20628086 146853 Q8WW18 ABBA01011234;AC006237;AI004987;AMYH02033352;AY557347;BC021727;CH471147;DB452451;NM_145272;XM_005257921 AAI56775;AAS67921;EAW80130;NP_660315;Q8WW18;XP_005257978 Hs.127194 1697790 RH102419 hypothetical protein LOC146853;uncharacterized protein C17orf50 protein-coding ENSG00000270806 HGNC:29581 11239 VALIDATED 1601699 C17orf51 chromosome 17 open reading frame 51 17 17 17 p11.2 21101932 21124927 + 21343211 21454941 - 21439899 21551678 - 12477932;14702039;15489334;16625196;24250222 339263 A8MQB3;H0YGX3 ABBA01050469;AC068418;AC138710;AC233702;AK023039;AK056436;AK090937;AK096256;AK123143;BC010612;BC019938;BC040371;BC052777;BC053952;BC132738;BC136630;BX640850;NM_001113434;XM_005256621;XM_006721514;XR_243554 A8MQB3;AAI32739;AAI36631;BAG51708;NP_001106905;XP_005256678;XP_006721577 Hs.514016;Hs.745165 1676524;5127443 D17S687;RH64889 FLJ12977;FLJ31874;FLJ33618;FLJ38937;FLJ41148 OTTHUMP00000163730;hypothetical protein LOC339263;uncharacterized protein C17orf51 protein-coding ENSG00000212719 HGNC:27904 VALIDATED 1349752 C17orf6 chromosome 17 open reading frame 6 p13.3 53400 AJ272176;AJ276246 Hs.684568 miscrna HGNC:1220 1602101 C17orf53 chromosome 17 open reading frame 53 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; calcitriol; copper(2+) sulfate 17 17 17 q21.31 38927986 38948557 + 42219274 42239844 + 44141906 44162476 + 6480464;8554872 12477932;14702039;19079262;21963094;22504420;23455924;24163370 78995 Q8N3J3 ABBA01028385;AC004596;AK021656;AK291924;AL834295;AMYH02033470;AMYH02033471;BC000121;BI829278;CH471178;DC350778;NM_001171251;NM_024032;XM_006722073;XM_006722074;XM_006722075 AAH00121;ACE86869;ACE87557;ADZ15728;BAB13867;BAF84613;CAD38968;EAW51629;EAW51630;EAW51631;EAW51632;NP_001164722;NP_076937;Q8N3J3;XP_006722136;XP_006722137;XP_006722138 Hs.437059 2191327 MARC_17439-17440:1022701360:3 FLJ11594;MGC3130 hypothetical protein LOC78995;uncharacterized protein C17orf53 protein-coding ENSG00000125319 HGNC:28460 08825 VALIDATED 1603302 C17orf59 chromosome 17 open reading frame 59 INTERACTS WITH diazinon 17 17 17 p13.1 8119895 8121808 - 8091651 8093564 - 8188333 8190246 - 12477932;16344560;18330356 54785 Q96GS4;Q9P1D2 ABBA01054901;AC129492;AI174760;AK000021;AK222506;AMYH02032922;BC009261;BC018880;BC070272;CA423621;CH471108;DA199264;DR006664;NM_017622 AAH09261;AAH18880;AAH70272;BAA90889;BAD96226;EAW90080;NP_060092;Q96GS4 Hs.129563 5121043 SHGC-56821 FLJ20014;PRO2472 OTTHUMP00000204665;hypothetical protein LOC54785;uncharacterized protein C17orf59 protein-coding HGNC:25939 13368 VALIDATED 1603500 C17orf67 chromosome 17 open reading frame 67 FOUND IN extracellular region (inferred); INTERACTS WITH zinc atom; zinc(0) 17 17 17 q22 51330963 51354807 - 54869274 54911256 - 56791913 56833895 - 6480464 12477932;19266077 339210 Q0P5P2 ABBA01041303;ABBA01041304;ABBA01041305;ABBA01041306;AC106858;AMYH02033665;BC041467;BC093905;BC093907;BU075516;CA308560;CH471109;NM_001085430;XM_005257296;XM_006721861;XM_006721862 AAH93905;AAH93907;EAW94527;NP_001078899;Q0P5P2;XP_005257353;XP_006721924;XP_006721925 Hs.658949 hypothetical protein LOC339210;uncharacterized protein C17orf67 protein-coding ENSG00000214226 HGNC:27900 VALIDATED 1603589 C17orf64 chromosome 17 open reading frame 64 INTERACTS WITH cadmium atom; 2,2',5,5'-tetrachlorobiphenyl (ortholog); benzo[a]pyrene (ortholog) 17 17 17 q23.2 57600356 57609277 + 58498574 58508787 + 60421215 60431426 + 6480464 12477932 124773 K7EQ24;Q86WR6 ABBA01035408;AC037475;AMYH02033722;BC036356;BC048806;CD742737;CH471179;DB448877;NM_181707;XM_005257033;XM_005257034;XM_005257035;XM_005257036 AAH36356;AAH48806;EAW51405;NP_859058;Q86WR6;XP_005257090;XP_005257091;XP_005257092;XP_005257093 Hs.129312 1681698 RH98573 OTTHUMP00000211620;hypothetical protein LOC124773;uncharacterized protein C17orf64 protein-coding ENSG00000141371 HGNC:26990 14029 VALIDATED 1346268 C17orf7 chromosome 17 open reading frame 7 53399 HGNC:1221 1605250 C17orf58 chromosome 17 open reading frame 58 INTERACTS WITH quercetin; tunicamycin; furan (ortholog) 17 17 17 q24.2 62556881 62557883 - 65987217 65989765 - 67991099 67993649 - 6480464 12477932;15489334 284018 Q2M2W7 ABBA01028975;AC134407;AI126153;AK026583;AMYH02033859;BC021702;BC036760;BC105124;BC112073;BX364842;NM_181655;NM_181656 AAH36760;AAI05125;AAI12074;NP_858041;NP_858042;Q2M2W7 Hs.90790 1699056 RH103103 MGC138278 UPF0450 protein C17orf58;hypothetical protein LOC284018 protein-coding ENSG00000186665 HGNC:27568 14151 VALIDATED 1606782 C17orf62 chromosome 17 open reading frame 62 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 17 17 17 q25.3 76992212 77000132 - 80400462 80408707 - 82442586 82450831 - 6480464 12477932;12878157;14702039;15146197;15489334;16344560;17207965;18464913;20195357;21139048;21503106;8125298;8889548 79415 H0Y2X1;J3KS78;J3KSB6;J3KSJ5;J3KTF4;J3KTI1;J3QKS6;J3QKZ6;J3QLB7;J3QQQ4;J3QRG5;J3QRZ2;J3QS53;Q969P4;Q9BQA9 ABBA01019679;AC132938;AF269290;AK027743;AK054876;AK056342;AK074950;AK090484;AK092865;AK225389;AK309201;AMYH02034157;AU280357;BC003595;BC004171;BG338078;BG716477;BM147030;BM801484;BU734211;BX451530;CH471099;CN260096;DA008508;DA342707;DA436899;DA453235;DA500882;DA663677;DA716299;DA969007;DB113745;NM_001033046;NM_001100407;NM_001100408;NM_001193653;NM_001193654;NM_001193655;NM_001193657;NR_036514;NR_036516;NR_036517;NR_036518;NR_036519;XM_006722293 AAG23173;AAH03595;AAH04171;ADQ32838;BAB55335;BAB70818;BAB71156;BAC03465;EAW89776;EAW89777;EAW89778;EAW89779;EAW89780;EAW89781;EAW89782;EAW89783;EAW89784;EAW89785;EAW89786;EAW89787;EAW89788;EAW89789;EAW89790;NP_001028218;NP_001093877;NP_001093878;NP_001180582;NP_001180583;NP_001180584;NP_001180586;Q9BQA9;XP_006722356 Hs.163113 1696972;2179889;5014051;5015619;5022200;5037552;5091076 D11S3114;D8S2278;D8S2279;G06994;L18426;RH101958;RH70292 FLJ00406;FLJ90469;MGC4368 hypothetical protein LOC79415;uncharacterized protein C17orf62 protein-coding ENSG00000178927 HGNC:28672 14630 VALIDATED 1604593 C17orf70 chromosome 17 open reading frame 70 FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008] 17 17 17 q25.3 76151328 76163810 - 79506911 79519429 - 81539885 81552403 - 6480464;8554872 12477932;12973351;14702039;15146197;16116422;16344560;17396147;18029348;18285517;20347428;20347429;20360068;21832049;22705371;24910428;8125298 80233 A4ZI32;E7EVV8;F5GZS4;F5H095;F5H5G6;I3L2L9;J3KQD8;Q0VG06 ABBA01032153;AC137896;AC139149;AK024644;AK025828;AK054713;AK225370;AL834374;AMYH02034131;AMYH02034132;BC001724;BC008883;BC021968;BC117139;BC117141;BC143861;CH471099;CN366430;DA103390;DQ989324;NM_025161;NR_033338;XM_006722111;XM_006722112;XR_429925 AAH01724;AAH21968;AAI17140;AAI17142;ABK88282;ADZ16080;BAB14944;BAB15251;BAG51415;CAD39037;EAW89655;EAW89656;EAW89657;EAW89658;EAW89659;EAW89660;NP_079437;Q0VG06;XP_006722174;XP_006722175 Hs.313905 2187795;5014053 D1S3693;G69480 FAAP100;FLJ22175;FLJ30151 Fanconi anemia associated protein 100 kDa subunit;Fanconi anemia core complex 100 kDa subunit;Fanconi anemia-associated protein of 100 kDa;Fanconi anemia-associated protein, 100kDa;OTTHUMP00000236787 APPROVED protein-coding ENSG00000185504 HGNC:26171 07982 611301 VALIDATED 1604207 C17orf74 chromosome 17 open reading frame 74 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred) 17 17 17 p13.1 7354821 7356773 + 7328851 7330887 + 7425616 7427568 + 8554872 12477932 201243 I3L1F6;Q0P670 ABBA01054865;AC113189;AMYH02032901;BC031286;BC044816;BC048010;CH471108;HC007082;NM_175734;XM_006721471 CBH19346;EAW90191;EAW90192;EAW90193;NP_783861;Q0P670;XP_006721534 Hs.380704 1690460 RH98448 hypothetical protein LOC201243;uncharacterized protein C17orf74 protein-coding ENSG00000184560 HGNC:27315 14128 VALIDATED 1603896 C17orf77 chromosome 17 open reading frame 77 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 17 17 17 q25.1 69173532 69182802 + 72581057 72590348 + 74584918 74594209 + 8554872 14702039 146723 E9PQI6;Q96MU5 ABBA01028836;AC079325;AK056444;AMYH02033978;CH471099;LN608657;NM_152460 AAI48445;AAI53034;EAW89172;NP_689673;Q96MU5 Hs.350775 5015861;5037552;7185938 D10S16;D8S2279 FLJ31882 OTTHUMP00000070876;hypothetical protein LOC146723;uncharacterized protein C17orf77 protein-coding HGNC:26480 08112 VALIDATED 1344979 C17orf8 chromosome 17 open reading frame 8 53398 HGNC:1222 1602416 C17orf78 chromosome 17 open reading frame 78 FOUND IN integral component of membrane (inferred) 17 17 17 q12 32555471 32572168 + 35732928 35749812 + 37376043 37392858 + 12477932;14702039;17207965;19913121;20628086;23535730 284099 Q8N4C9 ABBA01001373;AC068400;AC243654;AK096966;BC034672;CH471199;NG_023295;NM_173625;XM_005257239;XM_006725319 AAH34672;ADQ31592;BAC04914;EAW57585;EAW57586;NP_775896;Q8N4C9;XP_005257296;XP_006725382 Hs.439154 FLJ39647;MGC34759 hypothetical protein LOC284099;uncharacterized protein C17orf78 protein-coding ENSG00000278505 HGNC:26831 08262 VALIDATED 1602870 C17orf75 chromosome 17 open reading frame 75 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; paracetamol 17 17 17 q11.2 27568590 27579396 - 30655460 30677066 - 32328441 32350047 - 6480464 12477932;15342556;15489334;18029348;22797925;8619474;9110174 64149 J3KRR1;J3KT97;J3QKQ1;J3QRW7;J9JIC5;K7EII1;K7EIQ2;K7ERX0;Q9HAS0 AB062437;ABBA01000711;ABBA01000712;AC005899;AF052093;AF305686;AMYH02033315;BC026017;BC035715;BC047325;BC054035;BP308900;CA444740;CD706845;CH471147;NM_022344;XM_005258022;XM_005258023;XM_006722011 AAG23214;AAH26017;AAH35715;AAH47325;AAH54035;BAB93500;EAW80238;NP_071739;Q9HAS0;XP_005258079;XP_005258080;XP_006722074 Hs.655257 1649039;1857838;2138048;5014003;5014051;5014740;5015404;5015881;5015961;5016478;5016596;5020740;5022200;5022463;5022578;5022651;5024601;5037552;5109281 D11S2921;D15S1477;D17S1136;D17S1476E;D17S610;D1S1423;D1S1425;D3S1673;D8S2278;D8S2279;GDB:335751;GDB:434012;GDB:631802;L17705;L17809;L18426;RH18407;RH91950;SHGC-33551 NJMU-R1 spermatogenesis-related protein protein-coding ENSG00000108666 HGNC:30173 11392 VALIDATED 1601914 C17orf82 chromosome 17 open reading frame 82 INTERACTS WITH arsane; arsenic atom 17 17 17 q23.2 58590141 58591670 + 59489112 59490641 + 61411751 61413280 + 6480464 12477932;17207965;19893584;20383146;23263486;23455924;23563607;24250222 388407 Q86X59 ABBA01205205;AC005746;AMYH02033741;BC046200;CH471179;NM_203425 AAH46200;ADQ33068;EAW51427;NP_982249;Q86X59 Hs.434459 putative uncharacterized protein C17orf82 protein-coding ENSG00000187013 HGNC:32699 14202 PREDICTED 1602088 C17orf84 chromosome 17 open reading frame 84 84185 Q9H656 AK026247 BAB15410;Q9H656 Hs.684545 FLJ22594 protein-coding HGNC:26206 1353586 C17orf9 chromosome 17 open reading frame 9 53397 HGNC:1223 1626571 C17orf89 chromosome 17 open reading frame 89 FOUND IN mitochondrion (inferred); INTERACTS WITH valproic acid 17 17 17 q25.3 75843655 75845642 + 79213039 79215098 + 81239311 81241298 + 6480464 12477932;17287340 284184 A1L188;I3L4C8 AA534550;ABBA01032133;AC027601;AMYH02034122;BC079831;BC127837;CH471099;NM_001086521 A1L188;AAI27838;EAW89640;NP_001079990 Hs.356545 2155294 RH47021 hypothetical protein LOC284184;uncharacterized protein C17orf89 protein-coding ENSG00000224877 HGNC:33551 PREDICTED 1602883 C17orf80 chromosome 17 open reading frame 80 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; copper(2+) sulfate; dioxygen 17 17 17 q25.1 67811920 67828219 + 71228372 71245098 + 73232233 73248959 + 6480464;8554872 11076863;11230166;12477932;15489336;16381901;17213182;19056867;24250222;8889548 55028 B7Z7E5;I3L072;J3KT60;J3KTJ7;J3QLV1;Q9BSJ5 ABBA01028869;ABBA01028870;AC087301;AC097641;AK000728;AK027166;AK292838;AK301905;AL136740;AMYH02033959;AY163812;AY239293;BC005005;BG754800;BU736238;BU788930;CH471099;DC372573;DT220543;NM_001100621;NM_001100622;NM_001288770;NM_001288771;NM_017941;NR_110105;XM_005257487;XM_006721966 AAH05005;AAO25513;AAP72185;BAA91344;BAB15680;BAF85527;BAH13581;CAB66674;CAL38003;EAW89117;EAW89118;EAW89119;EAW89120;NP_001094091;NP_001094092;NP_001275699;NP_001275700;NP_060411;Q9BSJ5;XP_005257544;XP_006722029 Hs.12929 1739645;1848606;1849317;1849319;2137883 A006I05;D17S1722E;D17S602;G20831;RH36218 FLJ20721;HLC-8;MIG3;SPEP1 cell migration-inducing gene 3 protein;human lung cancer oncogene 8 protein;lung cancer-related protein 8;migration-inducing protein 3;sperm-expressed protein 1;uncharacterized protein C17orf80 protein-coding ENSG00000141219 HGNC:29601 17108 VALIDATED 1604808 C17orf85 chromosome 17 open reading frame 85 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine 17 17 17 p13.2 3726255 3761355 - 3710042 3749545 - 3802163 3846251 - 8554872 11412301;12477932;14702039;15342556;16344560;19471022;21145461;21693764;21832049;22365833;23602568;24457600;24816145;8125298;8889548 55421 K7ELP6;K7EQA5;Q53F19 ABBA01054747;ABBA01054748;AC005940;AC116914;AJ277841;AK056724;AK125048;AK223470;AMYH02032808;BC010707;BC011733;BM974475;BP344033;CH471108;CS185602;DA403386;DA815746;DA855232;HG508595;KC877633;KC877636;NM_001114118;XM_005256717;XM_006721556;XR_429819 AAH10707;AAI46420;AAI48857;BAD97190;BAG54129;CAB91001;CAJ42783;EAW90477;EAW90478;EAW90479;NP_001107590;Q53F19;XP_005256774;XP_006721619 Hs.120963 1740125;2109401;2144294;2149683;2173821;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;D9S1767;HSA277841__6597;STS-H93344;WI-11637;WI-22144 CTD-3195I5.1;ELG;FLJ32162;HSA277841 uncharacterized protein C17orf85 protein-coding HGNC:24612 17116 VALIDATED 1606638 C17orf97 chromosome 17 open reading frame 97 INTERACTS WITH 6-propyl-2-thiouracil (ortholog); methimazole (ortholog) 17 17 17 p13.3 361212 365198 + 260118 264457 + 410327 414666 + 6480464 12477932;23455924;24250222;24654937 400566 H7C5B9;I3L0T0;Q6ZQX7 ABBA01015238;AC141424;AK128660;AMYH02032717;BC057385;BC070116;BC141806;BG056786;NM_001013672 AAH57385;AAH70116;AAI41807;BAC87555;NP_001013694;Q6ZQX7 Hs.499607 1656015 RH12536 OTTHUMP00000216306;hypothetical protein LOC400566;uncharacterized protein C17orf97 protein-coding ENSG00000187624 HGNC:33800 18416 VALIDATED 2299176 C17orf96 chromosome 17 open reading frame 96 INVOLVED IN neuron fate commitment (inferred); INTERACTS WITH all-trans-retinoic acid; ethyl methanesulfonate; formaldehyde 17 17 17 q12 33488881 33492112 - 36827956 36831187 - 38671703 38674934 - 6480464 16625196;24550272 100170841 A6NHQ4 ABBA01031909;ABBA01031910;AC006449;AMYH02033359;CH471152;NM_001130677 A6NHQ4;EAW60520;NP_001124149 Hs.445574 1768569;2128589 RH48102;SGC31161 PRR28 OTTHUMP00000163180;Uncharacterized protein ENSP00000317905;hypothetical protein LOC100170841;proline rich 28;uncharacterized protein C17orf96 protein-coding ENSG00000273604 HGNC:34493 PREDICTED 2299180 C17orf98 chromosome 17 open reading frame 98 17 17 17 q12 33652304 33658595 - 36991341 36997642 - 38835088 38841389 - 16625196 388381 A8MV24 ABBA01031895;ABBA01031896;AC006449;AMYH02033366;AW182930;CH471152;DY654789;NM_001080465 A8MV24;EAW60538;NP_001073934 Hs.250182 1733352;2119964;2164499 D17S1181;D7S392;G38262 OTTHUMP00000163183;Uncharacterized protein LOC388381;hypothetical protein LOC388381;uncharacterized protein C17orf98 protein-coding ENSG00000275489 HGNC:34492 VALIDATED 2299182 C17orf99 chromosome 17 open reading frame 99 FOUND IN extracellular region (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 17 17 17 q25.3 72738832 72758765 + 76142434 76162364 + 78146353 78166283 + 6480464 11181995;12975309;15340161 100141515 K7EIQ9;K7ELL6;Q6UX52 ABBA01002942;ABBA01002943;AC021593;AK303128;AMYH02034048;AY358510;CH471099;NM_001163075;XM_005256911;XM_005256912 AAQ88874;BAG64234;EAW89498;NP_001156547;Q6UX52;XP_005256968;XP_005256969 Hs.633034 1694710;5015961;5109281 D15S1477;D1S1425;RH121932 FLJ50084;UNQ464 GLPG464;OTTHUMP00000204536;hypothetical protein LOC100141515;uncharacterized protein C17orf99 protein-coding ENSG00000187997 HGNC:34490 VALIDATED 1349999 C18orf12 chromosome 18 open reading frame 12 q21.1 84322 Q96KH6 AB027121 BAB47121;Q96KH6 Hs.334493 HEIL1;HsT2508 protein-coding HGNC:24918 1354365 C18orf23 chromosome 18 open reading frame 23 14702039 147341 AK091537;NM_152470 5493135 UniSTS:484412 HGNC:26612 1354305 C18orf15 chromosome 18 open reading frame 15 FOUND IN integral component of membrane (inferred) 18 18 p11.21 13121805 13122985 + 13229542 13230722 + 14702039 147276 Q96N68 AK055900;AP002505;CH471113;XR_040984;XR_040985 EAX01522;Q96N68 Hs.675872 1762767;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;SHGC-146549 HsT3231 ncrna HGNC:26447 1347622 C18orf21 chromosome 18 open reading frame 21 INTERACTS WITH disodium selenite; ethyl methanesulfonate; methyl methanesulfonate 18 18 18 q12.2 30360467 30367120 + 33552588 33559250 + 35972451 35979287 + 737633;6480464 12477932 14702039;15489334;16964243;21139048;21832049;22082156;24223155 83608 K7EM84;L7N2F3;Q32NC0;Q8TBS0;W4VSQ2 AA648431;ABBA01022435;AC091060;AF277182;AF277189;AMYH02034557;AMYH02034558;AW967900;AY631401;BC025950;BC108730;BC119765;BC119766;BX460890;CH471088;DN991579;NM_001201474;NM_001201475;NM_001201476;NM_031446;W84353;XM_005258364;XM_006722556 AAH25950;AAI08731;AAI19766;AAI19767;AAK07541;AAK07547;AAT51696;ABM83053;ABM86246;EAX01362;EAX01363;EAX01364;NP_001188403;NP_001188404;NP_001188405;NP_113634;Q32NC0;XP_005258421;XP_006722619 Hs.37883 1857457 RH45429 HsT3108;MGC131953;PNAS-124;PNAS-131;XTP13 HBV X-transactivated gene 13 protein;HBV X-transactivated protein 13;HBV XAg-transactivated protein 13;OTTHUMP00000158663;OTTHUMP00000163408;UPF0711 protein C18orf21;hypothetical protein LOC83608 protein-coding ENSG00000141428 HGNC:28802 12688 VALIDATED 1354418 C18orf41 chromosome 18 open reading frame 41 401894 XM_377496 HGNC:29311 1626518 C18orf33 chromosome 18 open reading frame 33 q22.3 14702039 100113406 AC015819;AK096231;XM_001714254;XM_001721238;XM_001721257 BAC04734;Q8N8S9;XP_001714306;XP_001721290;XP_001721309 Hs.638428 FLJ38912 protein-coding HGNC:31691 1626573 C18orf32 chromosome 18 open reading frame 32 ENCODES a protein that exhibits signal transducer activity; INVOLVED IN positive regulation of I-kappaB kinase/NF-kappaB signaling; signal transduction; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; coumestrol 18 18 18 q21.1 43863389 43868956 - 47007548 47013644 - 49481178 49487274 - 6480464 12477932;12761501;21139048;21890473;23000965;23864651;8889548 497661 Q8TCD1 AB097012;ABBA01018653;AC100778;AK027111;AK291882;AMYH02034695;BC022357;BC093004;BF210402;BF512018;BP395434;CB852935;NM_001035005;NM_001199346 AAH22357;AAH93004;ADR82680;BAC77365;BAF84571;NP_001030177;NP_001186275;Q8TCD1 Hs.603040 1660968;1730777;1852898;2126975 D18S103E;D18S1247;RH70037;SGC30182 FLJ23458 UPF0729 protein C18orf32;hypothetical protein LOC497661;putative NF-kappa-B-activating protein 200;putative NFkB activating protein protein-coding HGNC:31690 VALIDATED 1318467 C18orf25 chromosome 18 open reading frame 25 INTERACTS WITH (-)-demecolcine; arsenite(3-); copper(2+) sulfate 18 18 18 q21.1 40560969 40654391 + 43753519 43846955 + 46174022 46266992 + 737633;6480464 12477932 15385968;15489334;15722956;16189514;16344560;16524884;17081983;19240061;19322201;19471022;21139048;21693764;22863883;23455922;23602568;24216761;24816145 147339 K7EQH1;K7ER64;Q5BIX2;Q96B23 ABBA01022321;ABBA01022322;ABBA01022323;ABBA01022324;AC021763;AC118647;AI374757;AK289738;AK292981;AL713661;AL832027;AMYH02034656;AMYH02034657;BC016149;BC084579;BG497739;BK005125;BM561576;BU192741;BU663975;BX640683;CH471088;CS185648;DA818562;DB284444;KF573673;NM_001008239;NM_145055 AAH16149;AAH84579;BAF82427;BAF85670;CAD28470;CAD89920;CAE45812;CAJ42829;DAA05329;EAX01472;EAX01473;NP_001008240;NP_659492;Q96B23 Hs.116486 1342237;1686100;2123242;2150736 D18S1143;RH36388;RH91500;WI-14742 ARKL1;MGC12909;MGC87799;RNF111L1 ARKadia-like 1;hypothetical protein LOC147339;uncharacterized protein C18orf25 protein-coding ENSG00000152242 HGNC:28172 12690 VALIDATED 5131749 C18orf42 chromosome 18 open reading frame 42 18 18 18 p11.31 5028106 5081689 - 5143672 5197507 - 5143673 5197256 - 16344560 642597 J3KS16;P0CW23 ABBA01049876;AMYH02034241;AP001496;AP005380;NM_001145194 NP_001138666;P0CW23 Hs.437160 1682856;1734590;2159260 D18S943E;GDB:313337;RH91766 hypothetical protein LOC642597;putative uncharacterized protein C18orf42 protein-coding HGNC:28285 VALIDATED 1354422 C18orf57 chromosome 18 open reading frame 57 q22.3 54523 AL137361 Hs.98173 DKFZP434C0826 hypothetical protein LOC54523;uncharacterized protein LOC54523 protein-coding HGNC:25254 1603142 C18orf49 chromosome 18 open reading frame 49 q21.33 12477932 400653 AK000229;BC047606 Hs.699275 FLJ20222 protein-coding HGNC:25977 1348374 C18orf54 chromosome 18 open reading frame 54 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH calcitriol; dasatinib (anhydrous); ethyl methanesulfonate 18 18 18 q21.2 48740968 48764203 + 51884284 51908404 + 54357914 54382035 + 6480464;8554872 12477932;14702039;15146197;15489334;16189514;17207965;19322201;23455924;24250222 162681 I7GY12;I7HAS0;J3KRX3;J3KS56;Q8IYD9 AB267906;AB330143;AB330144;AB353076;AB353077;ABBA01018716;AC087395;AC093462;AK126503;AMYH02034757;BC036054;BC043651;BX640877;CH471096;CN359540;NM_001288980;NM_001288981;NM_001288982;NM_173529;NR_110234;XM_005258201;XM_005258202;XM_005258203 AAH36054;ADQ32333;BAC86570;BAM28642;BAM28643;BAM34476;BAM34477;BAM35939;CAE45934;EAW63006;NP_001275909;NP_001275910;NP_001275911;NP_775800;Q8IYD9;XP_005258258;XP_005258259;XP_005258260 Hs.208701 1662947;1691136;1701048 RH104151;RH45188;RH80534 LAS2;MGC33382 OTTHUMP00000163556;hypothetical protein LOC162681;hypothetical protein V1;hypothetical protein V3;hypothetical protein V4;hypothetical protein V5;lung adenoma susceptibility protein 2;uncharacterized protein C18orf54 protein-coding ENSG00000166845 HGNC:13796 11334 613258 VALIDATED 7207006 C18orf65 chromosome 18 open reading frame 65 18 18 18 q23 71024810 71027377 + 74207477 74210045 + 76495521 76498088 + 400658 Q6ZTR6 ABBA01015279;AC018413;AK126293;AMYH02035014;AMYH02035015;CH471117;HY337883;NG_032949;NM_001272093 BAC86516;EAW66580;NP_001259022 Hs.451549 uncharacterized protein LOC400658 APPROVED protein-coding ENSG00000275763 HGNC:51248 13489 VALIDATED 1345723 C18orf58 chromosome 18 open reading frame 58 p11.22 14702039 284222 AK092226;AP005117;AP005120;NM_173817 BAC03832;NP_776178;Q8NAR6 Hs.436902 FLJ34907 protein-coding HGNC:26631 1349119 C18orf61 uncharacterized LOC497259 18 18 p11.22 12200778 12224710 + 12200779 12224711 + 497259 AA393962;AA776829;ABBA01074011;AI125564;AI202918;AI683092;AMYH02034325;AP005264;HG509776;NR_049896 Hs.451609;Hs.541137 RP11-64C12.4 chromosome 18 open reading frame 61 APPROVED ncrna HGNC:26362 PREDICTED 1345552 C19orf10 chromosome 19 open reading frame 10 The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 4594232 4607089 - 4657557 4670415 - 4657545 4670403 - 6480464 12077275;12477932;14641539;15057824;15489334;16169070;16713569;17362502;21128247;21139048;21906983;22304920;24583282 56005 M0QXF7;M0QYN0;Q969H8 ABBA01056051;ABBA01056052;AC005339;AC005594;AF282264;AK098829;AL365373;AL365374;AMYH02035298;BC003639;BC010129;BC014655;BG484758;CH471139;NM_019107 AAC27824;AAC33800;AAH03639;AAH10129;AAH14655;CAB96947;CAB96948;EAW69202;EAW69203;NP_061980;Q969H8 Hs.465645 1658231 RH16158 EUROIMAGE1875335;IL25;IL27;IL27w;R33729_1;SF20 UPF0556 protein C19orf10;hypothetical protein LOC56005;interleukin 25;interleukin 27 working designation;interleukin-25;stromal cell-derived growth factor;stromal cell-derived growth factor SF20 APPROVED protein-coding ENSG00000074842 HGNC:16948 08415 606746 VALIDATED 1319491 C19orf12 chromosome 19 open reading frame 12 This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 19 19 19 q12 26887993 26904652 - 30189793 30206696 - 29698886 29715789 - 737633;6480464;8699517;8554872;7240710 12477932 14702039;16344560;20098747;20301334;20301682;21832049;21981780;22584950;22691760;22704260;23166001;23269600;23447832;23494994;23857908;24209434;24575447;24586779;24636776 83636 F8W6J3;K7EPS8;Q9NSK7 ABBA01039545;ABBA01039546;ABBA01039547;AC010513;AC010644;AK057185;AL162066;AMYH02035878;BC004957;BC009946;BC017211;BC063518;BG720088;BG722048;BI753584;DA064969;DA189248;DA348401;DA708831;DB541407;KF456537;NG_031970;NM_001031726;NM_001256046;NM_001256047;NM_001282929;NM_001282930;NM_001282931;NM_031448 AAH04957;AAH09946;AAH17211;AAH63518;BAG51878;CAB82403;NP_001026896;NP_001242975;NP_001242976;NP_001269858;NP_001269859;NP_001269860;NP_113636;Q9NSK7 Hs.529094 1666497;1685656;1689257;1778111;1853830;2116023;2134479;5015619;5022200;5037552 D11S3114;D19S1092;D8S2279;L18426;RH65212;RH65823;RH65947;RH76650;SGC34217;STS-N21279 DKFZp762D096;MGC10922;NBIA3;NBIA4;SPG43 OTTHUMP00000194763;OTTHUMP00000194765;hypothetical protein LOC83636;neurodegeneration with brain iron accumulation 3;neurodegeneration with brain iron accumulation 4;spastic paraplegia 43 (autosomal recessive);uncharacterized protein C19orf12 APPROVED protein-coding ENSG00000131943 HGNC:25443 12696 614297;614298;615043 VALIDATED 5132403 C18orf63 chromosome 18 open reading frame 63 18 18 18 q22.3 68850455 68893768 + 71983110 72026422 + 74315829 74359187 + 644041 Q68DL7 ABBA01056325;AC008021;AC090398;AMYH02034992;CR749350;HC006926;NM_001174123;XM_006722524 CAH18203;CBH19268;NP_001167594;Q68DL7;XP_006722587 Hs.465414 1763713 SHGC-147382 DKFZP781G0119 hypothetical protein LOC644041;uncharacterized protein C18orf63 protein-coding ENSG00000206043 HGNC:40037 PREDICTED 1342903 C19orf18 chromosome 19 open reading frame 18 FOUND IN extracellular vesicular exosome; INTERACTS WITH copper(2+) sulfate; quercetin 19 19 19 q13.43 55513281 55529383 - 58469805 58485902 - 57958437 57974534 - 737633;6480464 12477932 15489334;19056867;21832049;23251661 147685 Q8NEA5 ABBA01020789;AC010326;AMYH02036523;AMYH02036524;BC033933;CH471135;NM_152474 AAH33933;EAW72545;NP_689687;Q8NEA5 Hs.134209 MGC41906 hypothetical protein LOC147685;uncharacterized protein C19orf18 protein-coding ENSG00000177025 HGNC:28642 12699 PREDICTED 1346714 C19orf24 chromosome 19 open reading frame 24 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular region; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; paracetamol 19 19 19 p13.3 1209752 1213531 + 1275520 1279243 + 1275521 1279244 + 737633;6480464;8554872 12477932 14702039;15489334;16847563;8125298;8889548 55009 D6W5Y7;Q9BVV8 ABBA01002636;AC004258;AK000647;AK096105;AK225502;AMYH02035145;BC000890;BC012080;BG333480;BM675280;BX402818;CH471139;NM_017914 AAH00890;BAA91305;EAW69518;EAW69519;NP_060384;Q9BVV8 Hs.591383 1853080;2150989 A008K10;WI-17337 FLJ20640 OTTHUMP00000204659;OTTHUMP00000204660;hypothetical protein LOC55009;uncharacterized membrane protein C19orf24 protein-coding ENSG00000228300 HGNC:26073 12702 VALIDATED 1348009 C19orf31 chromosome 19 open reading frame 31 p13.3 14702039 404664 Q8N1I2 AC027319;AK098038;NM_001014373 BAC05219;NP_001014395;Q8N1I2 Hs.620488 FLJ40719 protein-coding HGNC:17573 1323450 C18orf8 chromosome 18 open reading frame 8 This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013] 18 18 18 q11.2 17899440 17927737 + 21083434 21113311 + 23503470 23531807 + 737633;6480464;8554872 12477932 14702039;15489334;17081983;17897319;20562859;21139048;22939629;23022380 29919 B7Z201;B7Z2Y1;B7Z3Q1;K7EIS6;K7EKN1;K7EL80;K7ENL9;K7EQ65;K7EQJ3;Q96DM3 ABBA01022632;AC010853;AC026634;AF143536;AK027106;AK057192;AK294169;AK295246;AK296230;AMYH02034416;AMYH02034417;BC002950;BC008305;CH471088;CN481504;NG_033119;NM_001276342;NM_013326;NR_075075;NR_075076;XM_006722445 AAD33909;AAH02950;AAH08305;BAB71377;BAH11687;BAH12017;BAH12287;EAX01155;EAX01156;EAX01157;NP_001263271;NP_037458;Q96DM3;XP_006722508 Hs.464779 1692998;1699642;1730145;2148313;2167999;2171440;5018027 AL034225;D18S75E;NPC1_s22;RH103425;RH48826;RH67909;WI-14881 FLJ23453;HsT2591;MIC1;Mic-1 colon cancer associated protein Mic1;colon cancer-associated protein Mic1;macrophage inhibitory cytokine 1;uncharacterized protein C18orf8 protein-coding ENSG00000141452 HGNC:24326 12693 VALIDATED 1352315 C19orf25 chromosome 19 open reading frame 25 INTERACTS WITH methyl methanesulfonate; quercetin; valproic acid 19 19 19 p13.3 1407199 1413220 - 1473200 1479555 - 1473201 1479556 - 6480464 12477932;14702039;15342556;15489334;15824131;16189514;16303743;17207965;19913121;20360068;20628086;22939629;24816145;8619474;9110174 148223 E7EP72;K7EK56;K7ELZ1;K7EQW1;K7ER12;Q9UFG5 ABBA01002646;AC027307;AK075267;AK093985;AK297944;AL122089;AMYH02035152;AY007120;BC018441;BP210473;CH471139;CQ783391;NM_152482;XM_005259505;XM_005259506;XM_006722653 AAH18441;ADQ32390;BAC04262;BAG52098;BAG60260;CAB59260;CAF86596;EAW69495;NP_689695;Q9UFG5;XP_005259562;XP_005259563;XP_006722716 Hs.532840 1688400;1739943;2116335;2154576;5123943 D2S2123;RH15927;RH39051;STS-N99984;WI-14332 FLJ36666 UPF0449 protein C19orf25;hypothetical protein LOC148223 protein-coding ENSG00000119559 HGNC:26711 12703 VALIDATED 1316225 C19orf26 chromosome 19 open reading frame 26 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p13.3 1164180 1172223 - 1228059 1237990 - 1228060 1237991 - 737633;6480464 12477932 15057824;15489334;16341674;17081983;17207965 255057 K7EIS9;K7EJP2;K7ELJ5;Q8N350 ABBA01002632;ABBA01002633;ABBA01002634;ABBA01002635;ABBA01002636;AC004221;AMYH02035143;AMYH02035144;AMYH02035145;AW163263;BC028156;BM263341;BM743507;BX094586;CH471139;CK824551;NM_152769;XM_005259528;XM_006722714;XM_006722715;XM_006722716;XR_430134 AAC04305;AAH28156;ADQ31791;EAW69535;EAW69536;EAW69537;NP_689982;Q8N350;XP_005259585;XP_006722777;XP_006722778;XP_006722779 Hs.346575 1681596;2219926 MIDN__6314;RH80863 DOS;MGC40084 downstream of Stk11 protein-coding HGNC:28617 16627 VALIDATED 1354281 C19orf33 chromosome 19 open reading frame 33 FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; copper(2+) sulfate 19 19 19 q13.2 35597040 35597882 + 38794804 38795646 + 38304164 38305006 + 6480464 11080599;11606055;12477932;14981917;15489334;16189703;17081983;17309599;18507030;20432246;21832049;22886722 64073 Q9GZP8 AB038317;AB038318;ABBA01040678;AC011479;AF213678;AF325216;AMYH02036066;BC008888;BC014264;BC060319;CH471126;NM_033520 AAG43574;AAH14264;AAH60319;AAK01421;BAB18465;BAB18466;EAW56769;EAW56770;NP_277055;Q9GZP8 Hs.631544 1685772 RH94089 H2RSP;IMUP;IMUP-1;IMUP-2;MGC39135;MGC75180 HAI-2 related small protein;HAI-2-related small protein;hepatocyte growth factor activator inhibitor type 2-related small protein;immortalization up-regulated protein;immortalization-upregulated protein protein-coding ENSG00000167644 HGNC:16668 12706 PROVISIONAL 2302125 C19orf38 chromosome 19 open reading frame 38 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); chloroprene (ortholog) 19 19 19 p13.2 10853950 10875203 + 10947304 10980466 + 10836651 10869790 + 6480464;8554872 12477932;15057824 255809 A8MVS5 ABBA01029889;ABBA01029890;ABBA01029891;ABBA01029892;ABBA01029893;AC007229;AC007565;AMYH02035506;AMYH02035507;AMYH02035508;AMYH02035509;BC157863;CH471106;KF456498;NM_001136482;XM_005259846;XM_005259847;XM_006722717 A8MVS5;AAI57864;EAW84154;NP_001129954;XP_005259903;XP_005259904;XP_006722780 Hs.440535 HIDE1 Highly expressed in immature dendritic cell transcript 1 protein-coding ENSG00000214212 HGNC:34073 PROVISIONAL 1352021 C19orf35 chromosome 19 open reading frame 35 19 19 19 p13.3 2208806 2216106 - 2274631 2282181 - 2274632 2282182 - 12477932;14702039;21998595 374872 Q6ZS72 ABBA01002716;ABBA01002717;AC004152;AK127680;AMYH02035187;AMYH02035188;AMYH02035189;BC107678;CH471139;NM_198532 BAC87082;EAW69392;NP_940934;Q6ZS72 Hs.511803 5014051;5015619;5037552 D11S3114;D8S2278;D8S2279 FLJ45778 putative uncharacterized protein C19orf35 protein-coding ENSG00000188305 HGNC:24793 12707 VALIDATED 1602810 C19orf45 chromosome 19 open reading frame 45 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cadmium dichloride (ortholog); furan (ortholog) 19 19 19 p13.2 7434951 7445845 + 7562445 7573336 + 7497559 7508450 + 6480464;8554872 12477932;14702039;16344560;24250222 374877 M0QY34;M0QYK1;M0R096;M0R0L7;Q8NA69 ABBA01010901;AC008878;AK093103;AK301623;AMYH02035398;BC029824;BC034779;DB037908;NM_198534;XM_005272473;XM_006722746;XM_006722747;XR_430139 AAH29824;AAH34779;BAC04057;BAG63108;NP_940936;Q8NA69;XP_005272530;XP_006722809;XP_006722810 Hs.631862 1701444;1760703;2220242 AB070080;RH104354;SHGC-144236 FLJ35784;FLJ56642 OTTHUMP00000211650;hypothetical protein LOC374877;uncharacterized protein C19orf45 protein-coding ENSG00000198723 HGNC:24745 13420 VALIDATED 1602089 C19orf44 chromosome 19 open reading frame 44 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cadmium dichloride (ortholog) 19 19 19 p13.11 16509042 16534003 + 16607187 16632180 + 16496311 16521369 + 6480464;8554872 12477932;16196087;16344560;21738480;21900206;8125298 84167 M0QXR9;M0QYD0;M0QZ23;M0R141;M0R1E2;M0R2B3;Q9H6X5 ABBA01051148;ABBA01051149;AC008764;AK025395;AK026145;AK225118;AK225678;AK297781;AK311324;AMYH02035684;BC027869;CH471106;DA491717;NG_031959;NM_001288834;NM_032207;XM_006722920;XM_006722921 AAH27869;ADZ15432;BAB15125;BAG60125;EAW84547;EAW84548;NP_001275763;NP_115583;Q9H6X5;XP_006722983;XP_006722984 Hs.631627 1655567;1666730;1722419;1770250;2109135;2132389;2132914;2132916;5022651 1980;A001Y07;CHERP_9130;D11S2921;D19S680E;G19773;G60283;RH16018;RH47535 FLJ21742;FLJ22492 hypothetical protein LOC84167;uncharacterized protein C19orf44 protein-coding ENSG00000105072 HGNC:26141 08641 VALIDATED 1605898 C19orf40 chromosome 19 open reading frame 40 FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008] 19 19 19 q13.11 30156740 30161565 + 33463140 33468401 + 32972234 32977495 + 6480464 12477932;15489334;16344560;17207965;17289582;18029348;18174376;18206976;18285517;18995830;20064461;20347428;20347429;20670894;21832049;22705371;23333308;23741361;23932590;23999858;24003026 91442 K7EKQ4;Q9BTP7;X6R368 ABBA01039606;AC011449;AK128668;AMYH02035930;BC003535;BC010170;BC020247;BM679170;BX390218;CD690094;CN368337;DA006539;NM_001300978;NM_152266;XM_005259393;XM_005259394 AAH03535;AAH10170;AAH20247;ADQ32151;BAG54708;NP_001287907;NP_689479;Q9BTP7;XP_005259450;XP_005259451 Hs.579899 5022322;5022463 D11S2560;D3S1673 FAAP24;FLJ46828;MGC32020 Fanconi anemia-associated protein of 24 kDa;Fanconi anemia-associated protein, 24 kDa APPROVED protein-coding HGNC:28467 14547 610884 VALIDATED 1605904 C19orf49 chromosome 19 open reading frame 49 q13.2 12477932 90198 Q86XP5 AC011497;AF497566;AK026018;BC093649;BC111942;BF941059;CB122799;NM_178121 AAH93649;AAI11943;AAO85531;NP_835222;Q86XP5 Hs.558582 FLJ22365;MGC138147;SBP1 protein-coding HGNC:24901 18019 1604305 C19orf43 chromosome 19 open reading frame 43 INTERACTS WITH (-)-demecolcine; diazinon; vincristine 19 19 19 p13.2 12731165 12735240 - 12841454 12845529 - 12730640 12734715 - 6480464 12477932;14702039;15489334;16189514;17332742;21832049;21890473;21906983;22365833;22939629;24657165;24816145 79002 K7ELS0;K7EN60;K7ERU7;Q9BQ61 ABBA01029777;AC018761;AF061732;AK027588;AK315754;AMYH02035555;BC000216;BC004533;BC015347;BC040846;CH471106;NM_024038 AAG43143;AAH00216;AAH04533;AAH15347;ABM82375;ABM85554;BAG38108;EAW84302;NP_076943;Q9BQ61 Hs.515155 1646898;1848376 D1S3567;RH16594 MGC2803;fSAP18 My029 protein;hypothetical protein LOC79002;uncharacterized protein C19orf43 protein-coding ENSG00000123144 HGNC:28424 14528 PREDICTED 1605879 C19orf47 chromosome 19 open reading frame 47 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH atrazine 19 19 19 q13.2 37626510 37653832 - 40826967 40854434 - 40321060 40348527 - 8554872 11076863;11230166;12477932;14702039;15489336;16381901;19616115;24250222 126526 J3QKY6;J3QKZ5;J3QS16;J3QS80;J9JIE4;Q8N9M1 ABBA01040751;ABBA01040752;ABBA01040753;AC118344;AI394044;AK094207;AL834131;AMYH02036109;AX399908;BC023623;BC027935;BI916290;BM459040;CH471126;CR936760;NM_001256440;NM_001256441;NR_046202;XM_005258520;XM_005258521;XM_005258522 AAH23623;AAH27935;ACE86598;ACE87279;BAC04311;CAD33352;CAD38848;CAL37407;CAL37488;CAL38418;CAL38618;EAW56945;EAW56946;EAW56947;EAW56948;EAW56949;NP_001243369;NP_001243370;Q8N9M1;XP_005258577;XP_005258578;XP_005258579 Hs.631557 1768544;2139416;5109565 D19S624E;RH48175;SHGC-63610 DKFZp686P05129;FLJ36888 hypothetical protein LOC126526;uncharacterized protein C19orf47 protein-coding ENSG00000160392 HGNC:26723 08216 VALIDATED 1602195 C19orf52 chromosome 19 open reading frame 52 INTERACTS WITH copper(2+) sulfate; benzo[a]pyrene (ortholog); cadmium dichloride (ortholog) 19 19 19 p13.2 10934265 10935758 + 11039424 11040917 + 10928748 10930241 + 6480464 12477932;15489334;21139048;21163940;21890473;21906983;21963094;24250222 90580 K7ENF5;Q9BSF4 ABBA01029885;AC011442;AMYH02035513;BC005075;BC007244;BC011833;CH471106;NM_138358 AAH05075;AAH07244;AAH11833;EAW84160;NP_612367;Q9BSF4 Hs.164026 1713683;2162847 G09492;RH120724 hypothetical protein LOC90580;uncharacterized protein C19orf52 protein-coding ENSG00000142444 HGNC:25152 14275 PREDICTED 1606305 C19orf53 chromosome 19 open reading frame 53 INTERACTS WITH cobalt dichloride; valproic acid 19 19 19 p13.2 13779045 13783371 + 13885257 13889587 + 13774443 13778773 + 6480464 10540346;11042152;12477932;15489334;15635413;16196087;16344560;20379614;21906983;24816145 28974 K7EIU1;K7EN09;K7ESE5;Q9UNZ5 ABBA01029722;AC008686;AF078852;AF086483;AI689503;AK311855;AMYH02035587;BC015465;CH471106;DA768829;NM_014047 AAD44484;AAH15465;ABM82495;ABM85687;BAG34796;EAW84372;NP_054766;Q9UNZ5 Hs.231616 1684556;1848706;1857670;2109405 A007D32;D19S1134;HSPC023_9568;RH91188 HSPC023;LYDG10 leydig cell tumor 10 kDa protein homolog protein-coding HGNC:24991 13687 VALIDATED 1605988 C19orf60 chromosome 19 open reading frame 60 INTERACTS WITH benzo[a]pyrene; menadione; furan (ortholog) 19 19 19 p13.11 18601706 18605350 + 18699495 18703147 + 18588685 18592337 + 6480464 12477932;14702039;16189514;16344560;17207965;19060904;19615732;19770013;21900206 55049 M0QYI9;M0R0T3;Q96EN9 ABBA01051272;AC003112;AK000857;AK054670;AK091925;AK094710;AMYH02035735;AMYH02035736;BC012078;BI836487;CH471106;DB254892;NM_001100418;NM_001100419;XM_005259977 AAH12078;ADQ32374;BAA91400;BAC03773;EAW84719;EAW84720;EAW84721;EAW84722;EAW84723;NP_001093888;NP_001093889;Q96EN9;XP_005260034 Hs.655317 1685129;1691028;5015404;5015619;5015861;5020946;5022578;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D1S1423;D8S2279;L17705;L17971;RH68226;RH99007 FLJ20850;FLJ30108;FLJ34606;FLJ37391 hypothetical protein LOC55049;uncharacterized protein C19orf60 protein-coding ENSG00000006015 HGNC:26098 07948 VALIDATED 1603189 C19orf48 chromosome 19 open reading frame 48 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH afimoxifene; atrazine; benzo[a]pyrene 19 19 19 q13.33 48351918 48358943 - 51300961 51307974 - 50797704 50804717 - 6480464;8554872 12452007;12477932;15489334;17207965;18698046;20686220;8889548 84798 M0QXL0;M0QZ14;M0QZC8;M0R1J5;M0R1Y9;M0R3D1;Q6RUI8 ABBA01068298;AC010325;AMYH02036363;AMYH02036364;AY491972;BC006151;BC037227;BC051842;BG482545;BG746959;BG746996;BG824338;BM478180;BM760737;BM802982;BQ890364;BX283891;BX362144;BX508552;CD247712;CF141966;CF146381;CH471135;DR762491;HY031063;NM_001290149;NM_001290150;NM_001290151;NM_001290152;NM_001290153;NM_001290154;NM_001290155;NM_032712;NM_199249;NM_199250 AAH06151;AAH37227;AAH51842;AAR36899;ADQ32837;EAW71905;EAW71906;EAW71907;EAW71908;EAW71909;NP_001277078;NP_001277079;NP_001277080;NP_001277081;NP_001277082;NP_001277083;NP_001277084;NP_116101;NP_954857;NP_954858;Q6RUI8 Hs.256301 1734674;1852635 D19S659E;D19S681E MGC13170 multidrug resistance-related protein;uncharacterized protein C19orf48 protein-coding ENSG00000167747 HGNC:29667 14437 VALIDATED 1626536 C19orf64 chromosome 19 open reading frame 64 p13.3 14702039 100113377 AK098244 BAC05269;Q8N7K9 Hs.266873 protein-coding HGNC:33549 1604490 C19orf54 chromosome 19 open reading frame 54 INTERACTS WITH diazinon 19 19 19 q13.2 38047186 38056250 - 41246761 41256533 - 40740856 40750623 - 12477932;15146197;16344560;21890473 284325 M0QXR4;M0R0A6;M0R2U9;M0R322;M0R368;Q5BKX5;Q6ZWG5 ABBA01040786;AC020945;AI250667;AK123126;AK298068;AK310021;AMYH02036123;BC020262;BC090894;BC131602;BI521309;CH471126;CN281611;DA073426;NM_198476;XM_005258776;XM_005258778;XM_006723151;XM_006723152;XM_006723153 AAH90894;BAC85538;BAG60359;EAW56994;NP_940878;Q5BKX5;XP_005258833;XP_005258835;XP_006723214;XP_006723215;XP_006723216 Hs.585105 1653051;1789038;2176103;5015619 D11S3114;G65653;RH67887;SHGC-31377 FLJ17063;FLJ41131;MGC103014 OTTHUMP00000196530;UPF0692 protein C19orf54;hypothetical protein LOC284325 protein-coding ENSG00000188493 HGNC:24758 13449 VALIDATED 1603955 C19orf57 chromosome 19 open reading frame 57 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH thioacetamide (ortholog) 19 19 19 p13.12 13886915 13910654 - 13993168 14016909 - 13882348 13906098 - 6480464;8554872 12477932;14702039;16189514;19060904;20098747;21832049;23940030;24250222;8228263 79173 K7EIN8;K7ELK3;K7EMZ7;K7EP60;K7ERY6;Q0VDD7 ABBA01029706;ABBA01029707;ABBA01029708;ABBA01029709;AC020916;AK097431;AMYH02035592;BC002891;BC012945;BC119718;BC119719;CH471106;L17327;NM_024323;XM_005260078;XM_006722885 AAB02340;AAH02891;AAH12945;AAI19720;BAC05049;EAW84376;EAW84377;EAW84378;EAW84379;NP_077299;Q0VDD7;XP_005260135;XP_006722948 Hs.143288 1673518;2174125 RH47778;RH69020 MGC11271;MGC149720 hypothetical protein LOC79173;pre-T/NK cell associated protein (3B3);pre-T/NK cell-associated protein 3B3;uncharacterized protein C19orf57 protein-coding ENSG00000132016 HGNC:28153 14415 PREDICTED 2311616 C19orf67 chromosome 19 open reading frame 67 19 19 19 p13.12 14085754 14090241 - 14192444 14196607 - 14081632 14085795 - 15057824;24250222 646457 A6NJJ6 ABBA01029692;AC022098;AMYH02035599;DN831393;DR008137;DY655148;HY028687;HY212999;NM_001277378 A6NJJ6;NP_001264307 Hs.569971 OTTHUMP00000240721;OTTHUMP00000240722;UPF0575 protein;UPF0575 protein C19orf67;UPF0575 protein C19orf67-like;hypothetical protein LOC646457 protein-coding ENSG00000188032 HGNC:34354 VALIDATED 1602629 C19orf68 chromosome 19 open reading frame 68 INVOLVED IN hematopoietic progenitor cell differentiation (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; thioacetamide (ortholog) 19 19 19 q13.33 45540366 45565746 + 48673952 48700879 + 48170678 48197622 + 6480464 12477932;19773279;20195357;20379614;21906983;22505724 374920 Q86XI8 ABBA01033008;ABBA01033009;AC011466;AMYH02036286;AMYH02036287;AMYH02036288;BC043386;CH471177;NM_199341;XM_005259449;XM_006723204;XM_006723205 AAH43386;EAW52318;NP_955373;Q86XI8;XP_005259506;XP_006723267;XP_006723268 Hs.664054 1678565 RH93332 MGC50339 hypothetical protein LOC374920;uncharacterized protein C19orf68 protein-coding ENSG00000185453 HGNC:34495 14189 VALIDATED 1605065 C19orf66 chromosome 19 open reading frame 66 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; cobalt dichloride 19 19 19 p13.2 10092297 10099418 + 10196806 10203928 + 10086130 10093252 + 6480464 12477932;14702039;21044950 55337 K7ELT7;K7EML3;K7EMS9;K7EP02;Q9NUL5 ABBA01029948;AC020931;AK001098;AK002148;AK096142;AK098062;AL137694;AMYH02035484;BC010847;BC026180;BC035817;CH471106;CQ859736;CQ859738;DB481173;NM_018381;XM_006722786;XM_006722787;XM_006722788 AAH10847;AAH26180;AAH35817;BAA92109;BAC04710;CAH25918;CAH25919;EAW84066;EAW84067;EAW84068;EAW84069;EAW84070;NP_060851;Q9NUL5;XP_006722849;XP_006722850;XP_006722851 Hs.655613 1650218;1777662;2218724;5015961;5022322;5022578;5037552 ANGPTL6__4301;D11S2560;D15S1477;D19S1125;D1S1423;D8S2279;RH11710 FLJ11286;FLJ40743 UPF0515 protein C19orf66;hypothetical protein LOC55337 protein-coding ENSG00000130813 HGNC:25649 07747 VALIDATED 1601829 C19orf70 chromosome 19 open reading frame 70 FOUND IN mitochondrion (inferred); INTERACTS WITH hydralazine; methyl methanesulfonate; valproic acid 19 19 19 p13.3 5615800 5618278 - 5678425 5680911 - 5678422 5680900 - 6480464 12477932;14702039;17353931;21890473;21906983;22939629;23464991 125988 K7EIR2;K7EKR0;Q5XKP0 AB167391;ABBA01056001;AC011499;AK091768;AMYH02035330;BC009557;BC042386;BC052640;BM563199;CH471139;CS072481;FB342993;FB711116;NM_205767 AAH09557;AAH42386;BAE80091;CAI93619;CAR81497;CAS91513;EAW69159;EAW69160;NP_991330;Q5XKP0 Hs.356626 5037552;5113791 D8S2279;RH79810 P117;QIL1 protein-coding ENSG00000174917 HGNC:33702 15198 VALIDATED 1344891 C19orf8 chromosome 19 open reading frame 8 140783 HGNC:17974 1602703 C19orf73 chromosome 19 open reading frame 73 19 19 19 q13.33 46488874 46489617 - 49621654 49622397 - 49118397 49119140 - 6480464 12477932;14702039;17207965 55150 Q9NVV2 ABBA01032941;AC008687;AC245081;AK001352;BC051004;BC069669;BC069693;BC069712;BC069750;CH471177;NM_018111 AAH51004;AAH69669;AAH69693;AAH69712;AAH69750;ADQ32878;BAA91643;EAW52456;NP_060581;Q9NVV2 Hs.458310 FLJ10490 putative uncharacterized protein C19orf73 protein-coding ENSG00000221916 HGNC:25534 07676 VALIDATED 2301120 C19orf71 chromosome 19 open reading frame 71 ASSOCIATED WITH Melanoma (inferred) 19 19 19 p13.3 3475965 3480838 + 3538674 3544121 + 3538675 3551763 + 8554872 15057824 100128569 A6NCJ1 ABBA01002828;ABBA01002829;AC005786;AC005787;AI138384;AMYH02035257;BX396051;CH471139;DY654838;KF456477;NM_001135580;XM_005259462;XM_005259463;XM_005259464;XM_006722595 A6NCJ1;EAW69312;NP_001129052;XP_005259519;XP_005259520;XP_005259521;XP_006722658 Hs.664978 1851490 RH48811 Uncharacterized protein ENSP00000327950;hypothetical protein LOC100128569;uncharacterized protein C19orf71 protein-coding ENSG00000183397 HGNC:34496 VALIDATED 1607022 C19orf80 chromosome 19 open reading frame 80 ENCODES a protein that exhibits hormone activity (ortholog); INVOLVED IN positive regulation of protein processing; regulation of lipoprotein metabolic process; triglyceride homeostasis; FOUND IN extracellular region; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 19 19 19 p13.2 11245140 11247464 + 11350295 11352619 + 11239619 11241943 + 6480464 12477932;12975309;15342556;20686565;21988832;22569073;22809513;23150577;23261442;23415864;23505323;24078058;24262987;24852694 55908 K7EIY2;K7EJY6;Q6UXH0 ABBA01029868;AC011472;AF271350;AMYH02035524;AY358356;BC113823;BF511595;BP316755;CH471106;KF809856;KF809857;KF809858;NG_031953;NM_018687 AAF76204;AAI13824;AAI41564;AAI46553;AAQ88722;AHH82583;AHH82584;AHH82585;EAW84185;EAW84186;NP_061157;Q6UXH0 Hs.534467 ANGPTL8;PRO1185;PVPA599;RIFL;TD26 angiopoietin-like protein 8;betatrophin;betatrophin variant 1;betatrophin variant 2;hepatocellular carcinoma-associated gene TD26;hepatocellular carcinoma-associated protein TD26;lipasin APPROVED protein-coding ENSG00000130173 HGNC:24933 14245 VALIDATED 7778770 C19orf84 chromosome 19 open reading frame 84 19 19 19 q13.41 48942587 48944872 - 51891543 51893828 - 51388289 51390574 - 12477932 147646 I3L1E1;K7EN44 ABBA01068274;AC008750;AMYH02036379;BC043532;BC085012;NG_012924;NM_001193623 I3L1E1;NP_001180552 Hs.148344 uncharacterized protein C19orf84;uncharacterized protein LOC147646 protein-coding ENSG00000262874 HGNC:27112 VALIDATED 1353943 C19orf9 chromosome 19 open reading frame 9 199775 BC021822 HGNC:20172 7409248 C19orf83 chromosome 19 open reading frame 83 19 19 19 q13.32 42951063 42952213 + 46144905 46146098 + 45641647 45642840 + 12477932 100287177 K7EIZ4 ABBA01040937;AC006132;AC098776;AMYH02036206;BC000856;BC007358;LN608739;LN608741;NM_001242348 K7EIZ4;NP_001229277 Hs.668611 putative uncharacterized protein C19orf83;uncharacterized protein LOC100287177 protein-coding ENSG00000267757 HGNC:48331 VALIDATED 5489342 C19orf81 chromosome 19 open reading frame 81 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH dimethyl sulfoxide; valproic acid 19 19 19 q13.33 48204001 48213858 + 51152702 51162567 + 50632761 50659690 + 6480464;8554872 24250222 342918 C9J6K1;H7BZS0 ABBA01068309;AC008743;AMYH02036360;BX281890;NM_001195076;XM_006723188 C9J6K1;NP_001182005;XP_006723251 Hs.531650 OTTHUMP00000209170;OTTHUMP00000209171;hypothetical protein LOC342918;putative uncharacterized protein C19orf81 protein-coding ENSG00000235034 HGNC:40041 VALIDATED 3129877 C1DP2 C1D nuclear receptor corepressor pseudogene 2 10 10 10 q22.3 75782316 75783178 - 81791366 81792228 - 80031610 80032472 - 642538 ABBA01003815;AL356095;AMYH02023415;CH471142;NG_021450 EAW80418 bA369J21.3 pseudo HGNC:31660 VALIDATED 2816606 C1DP4 C1D nuclear receptor corepressor pseudogene 4 10 10 10 q22.3 75790968 75791825 - 81800021 81800878 - 80040265 80041122 - 727879 ABBA01003814;AL356095;AMYH02023415;NG_021449 pseudo HGNC:38028 INFERRED 3129884 C1DP3 C1D nuclear receptor corepressor pseudogene 3 10 10 10 q22.3 75775107 75775960 - 81784144 81784997 - 80024388 80025241 - 20379614 642521 ABBA01003815;AL356095;AMYH02023415;NG_021448 bA369J21.2 pseudo HGNC:31661 INFERRED 1344219 C1GALT1C1 C1GALT1-specific chaperone 1 This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009] X X X q24 120223852 120228328 - 119759529 119764005 - 120625674 120630150 - 628501;1580863;6480464;6907045;7240710;8554872;8699517 12361956 11042152;12464682;12477932;12975309;16251947;17228361;18061573;18321367;18339842;18537974;18695044;18840896;19199708;19778426;19923218;20144270;21262965;21496458;21906983;21963094;22332537;22416136;23035125;23390052;23424651;24250222;24462875;24616093;8889548 29071 Q96EU7 AA578739;AB084170;ABBA01036052;AC011890;AF088029;AF161552;AF177284;AJ238398;AK290111;AMYH02040365;AY159319;AY358642;BC011930;BC012502;BC050441;BG779539;BM971206;CH471107;NG_016219;NM_001011551;NM_152692 AAF29039;AAH11930;AAH50441;AAN78129;AAQ13670;AAQ89005;ADZ16066;BAC41493;BAF82800;CAC80277;EAX11873;NP_001011551;NP_689905;Q96EU7 Hs.643920 2128483;2218740 C1GALT2__4480;G31528 C1GALT2;C1Gal-T2;C38H2-L1;COSMC;HSPC067;MGC19947;MST143;TNPS C38H2-like protein 1;OTTHUMP00000023952;OTTHUMP00000023953;beta 1,3-galactosyltransferase 2;core 1 beta1,3-galactosyltransferase 2;core 1 beta3-Gal-T2;core 1 beta3-galactosyltransferase-specific molecular chaperone APPROVED protein-coding ENSG00000171155 HGNC:24338 06462 300611;300622 REVIEWED 1353224 C1HR C1AGOH temperature sensitivity complementing 709 HGNC:1227 1607075 C1D C1D nuclear receptor corepressor The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010] 2 2 2 p13-p12 68118951 68139778 - 68269332 68290159 - 68042200 68063027 - 6480464 10362552;11311939;11801738;12379155;12477932;15146197;16344560;17412707;17599775;18029348;19423540;20211142;20406964;20438785;20530579;21832049;21906983;23333304;24816145;9405624;9469821;9679063;9852280 10438 J3KPZ4;Q13901 ABBA01075475;ABBA01075476;ABBA01075477;ABBA01075478;AC079112;AI004680;AJ297543;AK290451;AMYH02004003;BC005235;BC009584;BC009589;BC016284;BG505686;BM354091;CH471053;CN342947;DA900336;NM_001190263;NM_001190265;NM_006333;NM_173177;X95592 AAH05235;AAH09584;AAH09589;AAH16284;AAX88887;ABZ92396;BAF83140;CAA64845;EAW99884;EAW99885;EAW99886;NP_001177192;NP_001177194;NP_006324;NP_775269;Q13901 Hs.602900;Hs.697447 1647519;1679107;1680974;2186932 G23952;RH40315;RH69396;RH69539 LRP1;MGC12261;MGC14659;SUN-CoR;hC1D C1D DNA-binding protein;C1D nuclear receptor co-repressor;OTTHUMP00000159964;OTTHUMP00000201764;OTTHUMP00000202687;OTTHUMP00000202688;SUNCOR;nuclear DNA-binding protein;nuclear nucleic acid-binding protein C1D;small unique nuclear receptor co-repressor;small unique nuclear receptor corepressor APPROVED protein-coding HGNC:29911 07382 606997 REVIEWED 3362449 C1DP1 C1D nuclear receptor corepressor pseudogene 1 10 10 10 p11.22 32564384 32565578 - 32799556 32800747 - 32510628 32511819 - 11311939 554049 ABBA01033381;AL354750;AMYH02022586;NG_005140 1647519;1679107;1680974 G23952;RH40315;RH69539 bA195O1.1 pseudo HGNC:31465 INFERRED 1603542 C1orf100 chromosome 1 open reading frame 100 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q44 217805882 217842427 + 244515937 244552390 + 244352635 244389088 + 8554872 12477932;15489334;16710414;22560479;22832964 200159 Q5SVJ3 ABBA01047199;ABBA01047200;AL645465;AMYH02003081;AMYH02003082;BC054479;BX099227;CH471148;HY055397;NM_001012970;NM_001276348;NM_001276349 EAW77100;EAW77101;NP_001012988;NP_001263277;NP_001263278;Q5SVJ3 Hs.442703 1699752 RH103482 RP11-518L10.1 OTTHUMP00000037987;OTTHUMP00000037988;hypothetical protein LOC200159;uncharacterized protein C1orf100 protein-coding ENSG00000173728 HGNC:30435 13168 VALIDATED 732029 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010] 7 7 7 p21.3 7191989 7253724 + 7222178 7288282 + 7182547 7248651 + 632427;1580863;6480464;6907045 11677243 10580128;12477932;12690205;14702039;15146197;15231747;16251947;16344560;17228361;18061573;18695044;18840896;18985719;19010793;19073881;19229831;19357720;19524017;19556244;19923218;20379614;21496458;21906983;22131235;22416136;22534569;22544166;22574202;22589738;22988244;23190752;23536887;23624553;23832667;24159190;24398680;24462875 56913 C9JDX1;C9K0C8;Q9NS00 AA443459;ABBA01056514;AC005532;AF155582;AI400132;AI471988;AJ132443;AJ243256;AJ278960;AK023557;AMYH02015187;AX175160;BC003174;CB992707;CH236948;CH471073;CN360565;DA977378;DB106731;DB136152;JA738797;NG_027732;NM_020156;XM_005249812;XM_005249813;XM_006715759 AAF81981;AAH03174;AAQ96887;CAC43870;CAC45046;CAC80435;CAC82373;CCF77051;EAL24308;EAW93588;EAW93589;EAW93590;NP_064541;Q9NS00;XP_005249869;XP_005249870;XP_006715822 Hs.239666 1653802;1660449;1661354;1661726;1669729;1680042;1681708;1777878;2173703;2175312;7185116 D0S8242E;D7S1659;D7S537E;G09436;RH64979;RH78171;RH80632;SGC38000;SHGC-2627;WI-16903 C1GALT;T-synthase B3Gal-T8;OTTHUMP00000200760;beta 1,3-galactosyltransferase;beta-1,3-galactosyltransferase;core 1 O-glycan T-synthase;core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1;core 1 beta1,3-galactosyltransferase 1;core 1 beta3-Gal-T;core 1 beta3-Gal-T1;core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1;glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 APPROVED protein-coding ENSG00000106392 HGNC:24337 16631 610555 REVIEWED 1604494 C1orf101 chromosome 1 open reading frame 101 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN CatSper complex (inferred) 1 1 1 q44 217914699 218093560 + 244624673 244803664 + 244461348 244640362 + 8554872 12477932;15489334;16710414;20379614;24250222 257044 B1AQM6;Q5SY80 ABBA01047195;ABBA01047196;ABBA01047197;ABBA01047198;AC099757;AK027205;AK302609;AK303059;AL591594;AMYH02003083;AMYH02003084;AMYH02003085;AMYH02003086;AMYH02003087;BC028392;BC032859;BX648685;CH471148;DB462258;NG_029082;NM_001130957;NM_001242340;NM_173807;XM_005273090;XM_006711756;XM_006711757 AAH32859;ABM81932;ABW03376;BAG64176;BAH13761;EAW77109;NP_001124429;NP_001229269;NP_776168;Q5SY80;XP_005273147;XP_006711819;XP_006711820 Hs.459534 1693112;1724385;1776718 AL010011;AL034284;RH122716 MGC33370;RP11-523K4.1 OTTHUMP00000037984;OTTHUMP00000037985;OTTHUMP00000037986;hypothetical protein LOC257044;uncharacterized protein C1orf101 protein-coding ENSG00000179397 HGNC:28491 14561 VALIDATED 1603371 C1orf105 chromosome 1 open reading frame 105 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; valproic acid 1 1 1 q24.3 145499293 145547396 + 172389828 172437969 + 172420688 172468829 + 6480464;8554872 12477932;15489334;16710414;17081983;20379614;21832049 92346 E9PLC3;H0YCE4;O95561;Q5R3C7 ABBA01027919;AL035295;AMYH02002148;BC038410;CH471067;NM_001300760;NM_139240;XM_005245608;XM_005245609;XM_005245610;XM_006711630;Z97195 AAH38410;CAA22895;EAW90924;NP_001287689;NP_640333;O95561;XP_005245665;XP_005245666;XP_005245667;XP_006711693 Hs.517991 1655385;1692864;1692888;1693792;1774597;1854382;2108367;2123948;2168620 D1S1860E;G42299;G42311;PIGC_8542;RH12889;SHGC-33416;SHGC-57331;SHGC-58192;SHGC-58931 RP1-106H8.1 OTTHUMP00000032649;OTTHUMP00000230863;hypothetical protein LOC92346;uncharacterized protein C1orf105 protein-coding ENSG00000180999 HGNC:29591 14291 VALIDATED 1601862 C1orf106 chromosome 1 open reading frame 106 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 1 1 1 q32.1 173984710 174008910 + 200860627 200884864 + 200891499 200915736 + 6480464;8554872 12477932;14702039;15342556;15489334;16344560;19915572;21102463;21297633;21833088;23128233 55765 C9JAT8;E9PK29;Q3KP66 ABBA01027539;ABBA01027540;ABBA01027541;AC099756;AK001583;AK001763;AK025066;AK303885;AK316510;AMYH02002474;AW467005;BC106877;BP357953;CH471067;DA721467;DC346620;NM_001142569;NM_018265;XM_006711445 AAI06878;BAA91771;BAA91892;BAG64821;BAH14881;EAW91323;NP_001136041;NP_060735;Q3KP66;XP_006711508 Hs.518997 1676686;1764635 RH65506;SHGC-148222 FLJ10901;MGC125608 OTTHUMP00000033937;OTTHUMP00000033938;hypothetical protein LOC55765;uncharacterized protein C1orf106 protein-coding ENSG00000163362 HGNC:25599 07712 VALIDATED 1606402 C1orf110 chromosome 1 open reading frame 110 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH silicon dioxide; thioacetamide (ortholog) 1 1 1 q23.3 135928424 135942942 - 162820766 162838605 - 162850976 162868815 - 6480464;8554872 12477932;14702039;15489334;16710414;19536175;20664687;21832049;23266556 339512 Q5JSG0;Q86UF4 ABBA01047302;AK123573;AL392003;AMYH02002044;BC040018;CH471067;NM_178550;XM_005245125;XM_005245126;XM_006711289 BAC85648;EAW90726;NP_848645;Q86UF4;XP_005245182;XP_005245183;XP_006711352 Hs.407631 FLJ41579;MGC48998;RP11-331H2.2 OTTHUMP00000032331;coiled-coil domain-containing protein C1orf110;hypothetical protein LOC339512 protein-coding ENSG00000185860 HGNC:28736 14661 VALIDATED 1603514 C1orf111 chromosome 1 open reading frame 111 INTERACTS WITH fonofos; parathion; terbufos 1 1 1 q23.3 135446582 135449710 - 162343515 162347017 - 162373725 162377227 - 6480464 12477932;16189514;17207965;21832049 284680 Q5T0L3;V9GYQ4 ABBA01047307;AL512785;AMYH02002038;AY248900;BC032957;CH471067;NM_182581;XM_005245103 AAH32957;AAP20051;ADQ32851;EAW90701;NP_872387;Q5T0L3;XP_005245160 Hs.97784 HSD20;RP11-565P22.3 OTTHUMP00000029530;hypothetical protein LOC284680;uncharacterized protein C1orf111 protein-coding HGNC:27648 14154 VALIDATED 1606277 C1orf109 chromosome 1 open reading frame 109 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; hydrogen peroxide 1 1 1 p34.3 36425252 36434231 - 38147242 38158007 - 37681570 37692231 - 6480464 12477932;14702039;15489334;17207965;21890473;21906983;22548824;24144296;24250222 54955 B4DRQ5;Q9NX04;V9GY35;V9GYI2;V9GYN4;V9GYQ8;V9GYT8 ABBA01023270;ABBA01023271;ABBA01023272;AC104336;AK000515;AK092319;AK299377;AK316093;AMYH02000800;BC018109;BC063843;CH471059;NM_017850;XM_005270975;XM_005270977;XM_005270978;XM_005270979;XM_005270980;XM_005270981;XM_005270982;XM_005270984;XM_006710713;XM_006710714 AAH18109;AAH63843;ADQ31991;BAA91221;BAG61367;BAH14464;EAX07326;EAX07327;EAX07328;EAX07329;EAX07330;NP_060320;Q9NX04;XP_005271032;XP_005271034;XP_005271035;XP_005271036;XP_005271037;XP_005271038;XP_005271039;XP_005271041;XP_006710776;XP_006710777 Hs.272673 FLJ20508 OTTHUMP00000004518;hypothetical protein LOC54955;uncharacterized protein C1orf109 protein-coding ENSG00000116922 HGNC:26039 07918 614799 PROVISIONAL 1603990 C1orf112 chromosome 1 open reading frame 112 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; calcitriol 1 1 1 q24.2 142874342 142932011 + 169763224 169822229 + 169794980 169853088 + 6480464;8554872 12477932;14702039;19064610;19536175;20379614;21139048;21832049;21890473;23039964 55732 B4E0A9;Q9NSG2 ABBA01027945;ABBA01027946;AK001568;AK023532;AK096493;AK127098;AK294569;AK299369;AK303296;AK310638;AL021940;AL031297;AL354614;AMYH02002117;BC011012;BC011445;BC062689;BC091516;BC107168;BC107169;CH471067;NM_018186;XM_005245317;XM_005245319 AAH91516;AAI07169;AAI07170;ACE86830;ACE87516;BAA91761;BAB14600;BAG53304;BAG54436;BAG57763;BAG61359;BAG64371;CAB89727;EAW90863;EAW90864;EAW90865;EAW90866;NP_060656;Q9NSG2;XP_005245374;XP_005245376 Hs.443551 1699940;1847091 RH103578;SHGC-75871 FLJ10706;FLJ13470;MGC130018;MGC130019;RP1-97P20.1 OTTHUMP00000033966;OTTHUMP00000034000;hypothetical protein LOC55732;uncharacterized protein C1orf112 protein-coding HGNC:25565 07694 PREDICTED 1604289 C1orf116 chromosome 1 open reading frame 116 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; benzo[a]pyrene; hydrogen peroxide 1 1 1 q32.1 180443370 180457605 - 207191866 207208555 - 207018521 207032761 - 6480464;8554872 12477932;14702039;15525603;16189514;16344560;18029348;18729074;19056867;19447967;9389513 79098 Q9BPY1;Q9BW04 ABBA01048247;AC098935;AC247050;AK093826;AK096741;AL832940;AY352640;BC000765;BC001943;BC002325;BC018959;BG150416;CH471100;DA859157;NM_001083924;NM_023938;XM_005273259;XM_006711530 AAH00765;AAH01943;AAR11484;BAC04233;CAH56284;EAW93511;NP_001077393;NP_076427;Q9BW04;XP_005273316;XP_006711593 Hs.32417 1665715;2117375;2176540 A007I27;RH16330;SHGC-34392 DKFZp666H2010;FLJ36507;MGC2742;MGC4309;SARG OTTHUMP00000034747;OTTHUMP00000228548;specifically androgen-regulated gene protein;specifically androgen-regulated protein protein-coding ENSG00000182795 HGNC:28667 15294 611680 VALIDATED 1603028 C1orf123 chromosome 1 open reading frame 123 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; valproic acid 1 1 1 p32.3 51967614 51974132 - 53679771 53686289 - 53214099 53220617 - 6480464;8554872 12477932;14702039;15489334;16169070;16710414;17207965;21139048;21798097;21890473;21900206;21906983;22505724;23000965;24250222;24816145 54987 B1ARP7;Q9NWV4 ABBA01074743;AK000587;AK092734;AK094371;AL606760;AMYH02001034;BC010908;CH471059;CR457246;NM_017887 AAH10908;ADQ33192;BAA91272;CAG33527;EAX06749;EAX06750;EAX06751;EAX06752;NP_060357;Q9NWV4 Hs.525391 2120086;2143308;2164721 D1S1890E;RH64517;SHGC-17418 FLJ20580;RP5-1024G6.3 OTTHUMP00000010492;OTTHUMP00000035907;UPF0587 protein C1orf123;hypothetical protein LOC54987 protein-coding ENSG00000162384 HGNC:26059 07929 PREDICTED 1605938 C1orf115 chromosome 1 open reading frame 115 FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; coumestrol 1 1 1 q41 194082992 194091863 + 220863628 220872499 + 220690286 220699157 + 6480464 12477932;14702039;15489334;16344560;16710414;21832049;8889548 79762 Q9H7X2 ABBA01048073;AI188887;AK024208;AK056749;AK091937;AK125403;AL592406;AMYH02002733;BC036067;BU728891;CH471100;DA175175;NM_024709 AAH36067;BAB14851;BAG52445;EAW93296;EAW93297;NP_078985;Q9H7X2 Hs.519839 1847425;2147032;2181541 A004A32;HSC21A072;SHGC-17189 FLJ14146;RP11-322F10.4 OTTHUMP00000035468;hypothetical protein LOC79762;uncharacterized protein C1orf115 protein-coding ENSG00000162817 HGNC:25873 08596 VALIDATED 1606463 C1orf122 chromosome 1 open reading frame 122 INTERACTS WITH atrazine; cyclosporin A; methyl methanesulfonate 1 1 1 p34.3 36551297 36552950 + 38273473 38275126 + 37807801 37809454 + 6480464 12477932;14702039;15489334;16710414;19578796;21988832 127687 Q6ZSJ8 ABBA01023263;AK127381;AL929472;AMYH02000803;AY517499;BC016402;BC057819;BC102041;BC107856;BC127187;BC127188;CH471059;CV575592;CX788342;NM_001142726;NM_198446 AAH57819;AAI02042;AAI27188;AAI27189;AAS76640;BAC86950;EAX07315;NP_001136198;NP_940848;Q6ZSJ8 Hs.532749 5493453 UniSTS:486466 FLJ23476;FLJ45459 ALAESM;OTTHUMP00000004512;OTTHUMP00000232301;hypothetical protein LOC127687;uncharacterized protein C1orf122;uncharacterized protein LOC127687 protein-coding ENSG00000197982 HGNC:24789 13508 VALIDATED 1606866 C1orf132 chromosome 1 open reading frame 132 q32.2 14702039 388732 AK123177;AL356275;XR_000522;XR_000619 CAI40193;Q5TGB9 Hs.671099 1338984;1722593;1759545;1791440;1791730;1795514;2118948;2118950;2128275;2178351;2178467 CD34_304;D1S2692;D1S3317;G60378;PMC110554P1;PMC122934P1;RH35959;RH69685;RH70214;SHGC-151219;SHGC-33582 FLJ35650;MCP protein-coding HGNC:32018 5130803 C1orf134 chromosome 1 open reading frame 134 FOUND IN extracellular region (inferred); INTERACTS WITH lead(0); lead(2+) p36.13 6480464 574037 Q5TEV5 AL109627 CAI22564;Q5TEV5 protein-coding HGNC:32021 7246865 C1orf137 chromosome 1 open reading frame 137 INTERACTS WITH cadmium atom 1 1 p13.1 117236734 117249225 + 116694112 116706603 + 6480464 388667 Q5JT78 AA922397;ABBA01068493;ABBA01068494;AL356748;AMYH02001794;AMYH02001795;CH471122;LN607883;NM_001013643 EAW56660;NP_001013665;Q5JT78 Hs.127851 putative uncharacterized protein C1orf137 protein-coding HGNC:32040 18385 VALIDATED 1606706 C1orf127 chromosome 1 open reading frame 127 ASSOCIATED WITH Melanoma (inferred) 1 1 1 p36.22 10117782 10154399 - 11006530 11042094 - 10946473 10982037 - 8554872 12477932;14702039;16344560;22693459 148345 B7ZLG7;G8JLG8;H0YBK5;H3BM07;K7EPZ7;Q8N9H9 ABBA01035619;AK094437;AK095152;AL358492;AMYH02000279;BC126349;BC143794;BC143795;BC143797;CA438298;CH471130;DA093849;DW009828;NM_001170754;XM_006710377 AAI26350;AAI43795;AAI43796;AAI43798;BAC04355;EAW71666;EAW71667;NP_001164225;Q8N9H9;XP_006710440 Hs.127026 1732820;5024543 D1S1267;D1S3690 FLJ37118;FLJ37833 OTTHUMP00000196215;hypothetical protein LOC148345;uncharacterized protein C1orf127 protein-coding ENSG00000175262 HGNC:26730 08780 VALIDATED 1625840 C1orf143 chromosome 1 open reading frame 143 q41 11181995 440714 CH471100 EAW93325 5022578 D1S1423 protein-coding HGNC:32045 1605298 C1orf131 chromosome 1 open reading frame 131 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; disodium selenite 1 1 1 q42.2 204624375 204641792 - 231359509 231376933 - 231223763 231241187 - 6480464;8554872 12477932;12975309;14702039;21832049;24250222;24816145 128061 Q5TBH9;Q5TBI2;Q8NDD1 ABBA01033034;AK055124;AK303359;AL137801;AL834274;AMYH02002889;AY358235;BC036800;BC053609;BC062353;CH471098;CX783674;NM_001300830;NM_152379;XM_005273051 AAH36800;AAH53609;AAH62353;AAQ88602;BAB70857;BAG64419;CAD38949;EAW69948;EAW69949;EAW69950;EAW69951;EAW69952;NP_001287759;NP_689592;Q8NDD1;XP_005273108 Hs.743464 1692092;1692996;1698802 AL033686;AL034224;RH102964 DKFZp547B1713 OTTHUMP00000036143;OTTHUMP00000036144;OTTHUMP00000036145;OTTHUMP00000036146;hypothetical protein LOC128061;uncharacterized protein C1orf131 protein-coding ENSG00000143633 HGNC:25332 13204 VALIDATED 6899621 C1orf145 chromosome 1 open reading frame 145 1 1 q42.13 228391207 228401365 - 228203506 228213664 - 10737800;12477932;14702039;15489334;16710414 574407 H0YE71;Q96MR7 ABBA01005833;AK056556;AL359510;AMYH02002839;AMYH02002840;BC027909;CH471098;NR_073154;NR_073155 BAB71215;EAW69864;EAW69865;Q96MR7 Hs.650039 ncrna ENSG00000162913 HGNC:32047 VALIDATED 1605786 C1orf140 uncharacterized LOC400804 INTERACTS WITH (+)-catechin; paraoxon 1 1 1 q41 194722654 194729022 - 221503270 221509638 - 221329928 221336296 - 6480464 12477932 400804 Q5VVS0 ABBA01048067;AK128488;AL445470;AMYH02002739;BC140931;NR_024236 BAC87460;Q5VVS0 Hs.722626 2152528;5014055;5015961;5020948 AL009518;D15S1477;D1S3697;G35510 FLJ46636;MGC176608 APPROVED ncrna ENSG00000234754 17386 PREDICTED 1606070 C1orf141 chromosome 1 open reading frame 141 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 1 1 1 p31.3 65847829 65884157 - 67557859 67600654 - 67092176 67134971 - 8554872 12477932;22019778;22412388;24324551 400757 F2Z2X7;Q5JVX6;Q5JVX7;S4R3Z8 ABBA01074523;AL109843;AL133320;AMYH02001198;BC047053;BC062728;BC090886;BG772061;CH471059;HC006824;NM_001276351;NM_001276352;NR_075077 AAH47053;AAH90886;CBH19218;EAX06503;NP_001263280;NP_001263281;Q5JVX7 Hs.666621 1644018;1673658 AL009579;AL009632 MGC48454 OTTHUMP00000011044;OTTHUMP00000011045;hypothetical protein LOC400757;uncharacterized protein C1orf141 protein-coding ENSG00000203963 HGNC:32044 18418 VALIDATED 1602191 C1orf158 chromosome 1 open reading frame 158 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 1 1 1 p36.21 11918687 11933640 + 12806163 12821102 + 12746215 12761169 + 6480464;8554872 12477932;15489334;16710414;17207965 93190 Q5VUY5;Q8N1D5 ABBA01003098;AC244670;AK026705;AK298760;AL513016;BC029894;BX647383;CH471130;HY002971;NM_152290 AAH29894;ADQ31595;BAG60902;EAW71746;NP_689503;Q8N1D5 Hs.98095 1684924;1692930;5015861;5022578;7185938 AL034179;D10S16;D1S1423;RH98526 DKFZp686C0236;MGC35194;RP11-474O21.4 OTTHUMP00000001870;OTTHUMP00000001871;hypothetical protein LOC93190;uncharacterized protein C1orf158 protein-coding HGNC:28567 14604 VALIDATED 1603476 C1orf146 chromosome 1 open reading frame 146 1 1 1 p22.1 90929995 90957788 + 92683573 92711367 + 92218016 92245810 + 12477932;15496913 388649 Q5VVC0;X6R7K4 AA861282;ABBA01045550;AL451010;AMYH02001480;BC130499;BC171742;BQ435566;BQ435801;BU567193;BU852979;CH471097;NM_001012425 AAI30500;ADR82861;EAW73099;NP_001012425;Q5VVC0 Hs.558823 1663535 AL009497 RP11-163M2.4 OTTHUMP00000011941;OTTHUMP00000011942;hypothetical protein LOC388649;uncharacterized protein C1orf146 protein-coding ENSG00000203910 HGNC:24032 17988 VALIDATED 1606269 C1orf159 chromosome 1 open reading frame 159 FOUND IN integral component of membrane (inferred); INTERACTS WITH diazinon; 4-aminopyridine (ortholog); thioacetamide (ortholog) 1 1 1 p36.33 1559584 1569871 + 1017198 1051736 - 1081818 1116361 - 6480464 12477932;12975309;14702039;15489334;16344560;16710414;8889548 54991 B2REC4;B2REC5;J3KSJ6;J3KT48;J3QKM1;J3QRL0;J3QSF0;Q5T2W7;Q5T2W9;Q96HA4 ABBA01016014;ABBA01016015;ABBA01016016;ABBA01016017;AI270164;AK000591;AK024796;AK054793;AK057368;AK124054;AK128271;AK128434;AK301998;AL390719;AMYH02000078;AMYH02000079;AMYH02000080;AY358490;BC008788;BC028173;BE280321;BM974309;BU624412;BX394177;CH471183;DA066689;DB026989;NM_017891;XM_005244765;XM_006710716;XM_006710717;XM_006710718;XM_006710719;XM_006710720;XM_006710721;XR_241033;XR_426615 AAH08788;AAQ88854;ADZ15797;BAA91276;BAC87438;BAG51908;BAG63402;EAW56288;EAW56289;EAW56290;EAW56291;NP_060361;Q96HA4;XP_005244822;XP_006710779;XP_006710780;XP_006710781;XP_006710782;XP_006710783;XP_006710784 Hs.235095 5022651 D11S2921 FLJ20584;FLJ21143;FLJ36119;RP11-465B22.4 OTTHUMP00000000807;OTTHUMP00000000808;OTTHUMP00000000809;OTTHUMP00000000896;OTTHUMP00000000897;OTTHUMP00000205753;hypothetical protein LOC54991;uncharacterized protein C1orf159 protein-coding ENSG00000131591 HGNC:26062 07930 VALIDATED 1604535 C1orf162 chromosome 1 open reading frame 162 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; disodium selenite 1 1 1 p13.2 110263526 110268056 + 112016474 112021134 + 111473867 111478512 + 6480464 12477932;14702039 128346 Q8NEQ5 AA333542;ABBA01068397;AK123160;AL390195;AMYH02001727;BC017973;BG545926;CA439311;CH471122;HX785231;KF455010;NM_001300834;NM_001300835;NM_174896;XM_005270475;XM_005270476 AAH17973;ABM82902;ABM86093;EAW56497;EAW56498;NP_001287763;NP_001287764;NP_777556;Q8NEQ5;XP_005270532;XP_005270533 Hs.288010 1682387 RH93699 MGC24133 OTTHUMP00000013474;OTTHUMP00000013475;transmembrane protein C1orf162 protein-coding ENSG00000143110 HGNC:28344 14495 VALIDATED 1603248 C1orf174 chromosome 1 open reading frame 174 FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; diazinon; formaldehyde 1 1 1 p36.32 3059840 3070495 - 3805697 3816857 - 3889133 3900293 - 6480464 12477932;14702039;16169070;18029348;19322201;21044950;21832049 339448 Q8IYL3 ABBA01073650;AK125092;AK289493;AL691523;AMYH02000138;BC035643;BC047611;BC067302;BX005110;CH471130;NM_207356;XM_005244743 AAH35643;AAH67302;BAF82182;EAW71492;EAW71493;NP_997239;Q8IYL3;XP_005244800 Hs.103939 1688468;1766319;2187333;5015861;5022322;7185938 D10S16;D11S2560;RH93299;SHGC-149666;SHGC-30623 RP13-531C17.2 OTTHUMP00000003854;UPF0688 protein C1orf174;hypothetical protein LOC339448 protein-coding ENSG00000198912 HGNC:27915 17353 VALIDATED 1604211 C1orf168 chromosome 1 open reading frame 168 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH aflatoxin B1; coumestrol; cyclosporin A 1 1 1 p32.2 55469351 55569881 - 57184477 57285369 - 56718804 56819696 - 6480464;8554872 14702039;16344560;22843503;23251661;8889548 199920 Q5VWT5 ABBA01074677;ABBA01074678;AK093468;AK125198;AK310842;AL035705;AL360295;AMYH02001080;BU686304;BX648439;DA523424;DB193989;NM_001004303;XM_005270583;XM_005270584;XM_005270585;XM_006710416;XR_246247 ACE86516;ACE87195;BAC86080;CAH56148;NP_001004303;Q5VWT5;XP_005270640;XP_005270641;XP_005270642;XP_006710479 Hs.437655 1708410;1712030;2147251;2161685 AL009563;RH118712;SHGC-58246;SHGC-83491 FLJ43208;RP4-758N20.2 OTTHUMP00000009991;hypothetical protein LOC199920;uncharacterized protein C1orf168 protein-coding ENSG00000187889 HGNC:27295 14120 VALIDATED 1606860 C1orf186 chromosome 1 open reading frame 186 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol 1 1 1 q32.1 179204080 179208813 + 206238872 206288236 - 206053134 206102459 + 6480464;8554872 12477932;14702039;15489334;16710414 440712 Q6ZWK4 ABBA01001845;ABBA01001846;AC244035;AI683243;AK122631;AX118901;BC071785;BX104285;BX571818;CH471067;NM_001007544;XM_005272738 AAH71785;BAC85497;CAC38524;EAW91594;NP_001007545;Q6ZWK4;XP_005272795 Hs.662248 1691196 RH91969 FLJ16052 OTTHUMP00000034347;hypothetical protein LOC440712;uncharacterized protein C1orf186 protein-coding ENSG00000263961 HGNC:25341 17400 VALIDATED 1604177 C1orf167 chromosome 1 open reading frame 167 1 1 1 p36.22 10940298 10952024 + 11823827 11849642 + 11762214 11789585 + 12370778;12477932;19729601;19913121;20416077;20628086;23824729 284498 A2VCK6;H0Y5F2;H0Y5L4;H7BXQ2;Q5SNV9;Q8NDG0 ABBA01003059;ABBA01003060;AF398935;AL833920;AL833926;AL834308;AL953897;AMYH02000300;BC031692;BC128091;BC128092;HY031308;HY056181;NM_001010881;XM_006710065;XM_006710066;XM_006710067;XM_006710068;XM_006711077;XM_006711078;XM_006711079;XM_006726324;XM_006726325;XM_006726326;XM_006726327 AAH31692;AAI28092;AAI28093;CAD38776;CAD38782;CAD38978;NP_001010881;Q5SNV9;XP_006710128;XP_006710129;XP_006710130;XP_006710131;XP_006711140;XP_006711141;XP_006711142;XP_006726387;XP_006726388;XP_006726389;XP_006726390 Hs.585415;Hs.730573;Hs.742886 5022200 L18426 DKFZp434E1410;DKFZp434F1313;RP11-56N19.2 OTTHUMP00000002264;OTTHUMP00000002265;OTTHUMP00000002266;hypothetical protein LOC284498;uncharacterized protein C1orf167 protein-coding HGNC:25262 VALIDATED 1626188 C1orf193 chromosome 1 open reading frame 193 100101443 AL513523;NM_001099689 CAH71419;NP_001093159 FLJ21919 protein-coding HGNC:32329 1606869 C1orf189 chromosome 1 open reading frame 189 INTERACTS WITH (+)-catechin 1 1 1 q21.3 127243566 127250527 - 154171561 154178841 - 154199085 154206365 - 12477932;15489334;16710414 388701 Q5VU69 ABBA01049475;AI052706;AL590431;AMYH02001918;AMYH02001919;BC127710;BC130509;CH471121;HY025946;NM_001010979 AAI27711;AAI30510;ADR83452;EAW53228;NP_001010979;Q5VU69 Hs.104967 1735654;1848456;1850070;2138400;2147428;2171874 A002G29;D1S1842E;D1S1900E;D9S2048;RH11751;RH12547 OTTHUMP00000034203;hypothetical protein LOC388701;uncharacterized protein C1orf189 protein-coding HGNC:32305 17373 VALIDATED 1604538 C1orf194 chromosome 1 open reading frame 194 1 1 1 p13.3 107917953 107925883 - 109648573 109656484 - 109105951 109113862 - 11329013;12477932 127003 B1ALJ5;E9PLX1;E9PRR4;Q5T5A4 ABBA01068371;ABBA01068372;AL138933;AL356488;AMYH02001704;BC127905;BG196327;BG772797;NM_001122961;XM_005270448;XM_006710342;XM_006710343;XM_006710344 NP_001116433;Q5T5A4;XP_005270505;XP_006710405;XP_006710406;XP_006710407 Hs.446962 OTTHUMP00000013446;OTTHUMP00000013448;hypothetical protein LOC127003;uncharacterized protein C1orf194 protein-coding ENSG00000179902 HGNC:32331 VALIDATED 1603553 C1orf177 chromosome 1 open reading frame 177 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH fonofos; parathion; terbufos 1 1 1 p32.3 53559332 53595605 + 55271736 55307937 + 54806063 54842264 + 6480464;8554872 12477932;14702039;20379614 163747 Q3ZCV2 ABBA01074707;AC096536;AK097520;AMYH02001059;AMYH02001060;AMYH02001061;BC039109;BC064142;BU633253;CH471059;KF495955;NM_001110533;NM_152607 AAH39109;AAH64142;BAC05087;EAX06665;EAX06666;NP_001104003;NP_689820;Q3ZCV2 Hs.376018 1781832 SHGC-172962 FLJ40201 OTTHUMP00000011682;OTTHUMP00000011683;hypothetical protein LOC163747;uncharacterized protein C1orf177 protein-coding ENSG00000162398 HGNC:26854 08807 VALIDATED 1601806 C1orf185 chromosome 1 open reading frame 185 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred) 1 1 1 p32.3 49854427 49900283 + 51442129 51613754 + 50976457 51148082 + 8554872 14702039;16710414;21076409 284546 Q5T7R7;R4GMU4 ABBA01074813;ABBA01074814;AK130995;AL162430;AL590455;AMYH02000995;NM_001136508;XM_005270771 NP_001129980;Q5T7R7;XP_005270828 Hs.176177 FLJ27485 OTTHUMP00000009757;hypothetical protein LOC284546;uncharacterized protein C1orf185 protein-coding ENSG00000204006 HGNC:28096 PREDICTED 1604859 C1orf197 chromosome 1 open reading frame 197 q42.12 653311 AC092811;XM_928433 XP_933526 FLJ43126;PRO0650 protein-coding HGNC:32338 1604852 C1orf196 chromosome 1 open reading frame 196 p36.21 780789 B1AJZ1 AL031273;Z99291 B1AJZ1;CAI20112;CAI22533 protein-coding HGNC:32336 1601704 C1orf204 chromosome 1 open reading frame 204 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); intracellular (inferred); INTERACTS WITH afimoxifene; silicon dioxide 1 1 1 q23.2 132872691 132893564 - 159804264 159825544 - 159834474 159855347 - 6480464;8554872 14702039;15489334;15815621;23472185 284677 Q5VU13 ABBA01016617;ABBA01016618;AK096506;AL080176;AL590560;AMYH02002018;NM_001134233 CAH71105;NP_001127705 Hs.647718 1798158;2178946 SLAMF8_2285;WI-11725 FLJ20442;FLJ39187 OTTHUMP00000033459;hypothetical protein LOC284677;uncharacterized protein LOC284677 protein-coding ENSG00000188004 HGNC:27647 PREDICTED 7246539 C1orf195 chromosome 1 open reading frame 195 1 1 p36.21 15490692 15498120 - 15164196 15171624 - 15489334;16710414 727684 Q5TG92 ABBA01004717;AL035405;AMYH02000352;AMYH02000353;AW269992;BX095243;LN607847;NM_001278501;NM_001278502 NP_001265430;NP_001265431;Q5TG92 Hs.667584;Hs.735267 putative uncharacterized protein C1orf195 protein-coding HGNC:32332 VALIDATED 1348164 C1orf20 chromosome 1 open reading frame 20 q25 11318611 116492 AF288396 Hs.693174 protein-coding HGNC:16786 1602995 C1orf198 chromosome 1 open reading frame 198 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; dasatinib (anhydrous) 1 1 1 q42.2 204238818 204271280 - 230972865 231005335 - 230837119 230869589 - 6480464;8554872 12477932;12665801;14702039;15489334;16344560;16710414;19322201;21139048;21906983;24816145 84886 E5RFY9;E5RI90;Q9H425 ABBA01033029;ABBA01033030;ABBA01033031;AK027431;AK096166;AK131306;AK292433;AL118511;AL713769;AL833809;AMYH02002883;AMYH02002884;BC004870;BC066649;CH471098;DA333501;DA754292;NM_001136494;NM_001136495;NM_032800 AAH66649;BAB55105;BAD18472;BAF85122;BAG53223;EAW69923;EAW69924;EAW69925;EAW69926;EAW69927;NP_001129966;NP_001129967;NP_116189;Q9H425 Hs.520494 2149791;2162327;5110525 A006T20;RH45528;SHGC-76517 DKFZp667D152;FLJ14525;FLJ16283;FLJ38847;MGC10710 OTTHUMP00000035916;OTTHUMP00000228226;OTTHUMP00000228228;hypothetical protein LOC84886;uncharacterized protein C1orf198 protein-coding ENSG00000119280 HGNC:25900 13359 VALIDATED 1601758 C1orf218 chromosome 1 open reading frame 218 q31.3 12477932;14702039 54530 AK000061;AK024832;AK091207;AL139136;AL831839;BC074735;NM_019049 AAH74735;BAA90918;BAB15024;CAD38548;CAI15312;NP_061922;Q5TAI8;Q6B0I8;Q9H774;Q9NXU2 Hs.657779 DKFZp547O0715;FLJ20054 protein-coding HGNC:25946 08611 1603568 C1orf210 chromosome 1 open reading frame 210 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 3,4-dichloroaniline; aflatoxin B1 1 1 1 p34.2 42029660 42033395 - 43747554 43751334 - 43281883 43285617 - 6480464 12477932;15489334;16341674;17207965 149466 Q8IVY1 ABBA01050960;AC093420;AL696898;AMYH02000897;AX191594;BC041633;BM273035;BM784450;CH471059;NM_001164829;NM_182517;XM_005270523 AAH41633;ADQ32137;CAC51180;EAX07108;EAX07109;NP_001158301;NP_872323;Q8IVY1;XP_005270580 Hs.158963 MGC52423 OTTHUMP00000224940;OTTHUMP00000224941;putative uncharacterized protein C1orf210 protein-coding ENSG00000253313 HGNC:28755 14677 VALIDATED 1602948 C1orf220 chromosome 1 open reading frame 220 1 1 1 q25.2 151621094 151627187 + 178511931 178631729 + 178542796 178548889 + 12477932;14702039;24097068 400798 Q5T0J3 ABBA01027834;ABBA01027835;AK092849;AL513013;AMYH02002219;BC136727;CH471067;LK938640;NR_033186 AAI36728;BAC03990;EAW91026;Q5T0J3 Hs.668085 DKFZp564J047;FLJ35530;FLJ40199 ncrna ENSG00000213057 HGNC:33805 13417 VALIDATED 1602984 C1orf216 chromosome 1 open reading frame 216 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 1 1 1 p34.3 34453940 34459253 - 36179477 36184790 - 35713876 35719189 - 6480464;8554872 12477932;14702039;16189514 127703 B4DG08;Q8TAB5 ABBA01023335;AK096303;AK096466;AK294352;AL354864;AMYH02000769;BC026909;CH471059;NM_152374 AAH26909;BAC04755;BAC04799;BAG57619;EAX07403;EAX07404;NP_689587;Q8TAB5 Hs.112023 1703180;2124526;2169455;2169457 A002D03;G19944;SGC31887;WI-19902 FLJ38984 OTTHUMP00000221719;UPF0500 protein C1orf216;hypothetical protein LOC127703 protein-coding ENSG00000142686 HGNC:26800 08798 PROVISIONAL 1606656 C1orf222 chromosome 1 open reading frame 222 1 p36.33 1853390 1859368 - 12477932 339457 H7C4E1;Q5T2D8;Q69YW0 ABBA01016077;ABBA01016078;AL109917;AL137547;BC114926 AAI14927;CAH10703;Q69YW0 Hs.259619 MGC133181 hypothetical protein LOC339457;uncharacterized protein C1orf222 protein-coding HGNC:27917 14167 MODEL 1319257 C1orf21 chromosome 1 open reading frame 21 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 1 1 1 q25 157467104 157709101 + 184356150 184598155 + 184387016 184629021 + 6480464;8554872 11318611;12477932;14702039;15489334;16341674;16710414;17207965;8619474;9110174 81563 B1AKK6;Q9H246 ABBA01027734;ABBA01027735;ABBA01027736;AF035282;AF312864;AK056487;AK312062;AL078645;AL358152;AL445228;AL699720;AMYH02002291;AMYH02002292;AY258286;BC028567;BF575955;BG823539;BM793961;BQ431539;BX648959;CD000222;CH471067;CR627007;KF455093;KF455102;KF455118;NM_030806 AAG45338;AAH28567;AAP82231;ADQ32265;BAB71196;BAG34998;EAW91176;EAW91177;NP_110433;Q9H246 Hs.497159;Hs.744936 1644081;1647344;1650184;1659216;1667561;1671001;1684110;1692398;1692446;1693008;1706418;2160755;2184399;5092904;5093546 A009C04;A009Q28;AL009811;AL033847;AL033873;AL034231;D1S1846E;D1S1866E;D1S2249;G32403;G32782;RH26692;RH77882;SHGC-76052;SHGC-80787 PIG13 OTTHUMP00000033397;cell proliferation-inducing gene 13 protein;proliferation-inducing protein 13;uncharacterized protein C1orf21 protein-coding ENSG00000116667 HGNC:15494 12721 VALIDATED 2301261 C1orf226 chromosome 1 open reading frame 226 INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; afimoxifene 1 1 1 q23.3 135451762 135459674 + 162348696 162356608 + 162378906 162386818 + 6480464 11181995;12477932;14702039 400793 A1L170;F8W6W0 ABBA01047306;ABBA01047307;AI480219;AK023199;AK125122;AK293907;AL512785;AMYH02002038;BC127743;BC127744;CH471067;NM_001085375;NM_001135240 A1L170;AAI27744;AAI27745;BAG57292;EAW90702;NP_001078844;NP_001128712 Hs.447011 1710146;1779680;1779684;2126471;2169349 RH78970;SHGC-153658;SHGC-153662;SHGC-37330;SHGC-81561 FLJ13137;FLJ43132;FLJ55152 OTTHUMP00000228958;OTTHUMP00000228959;hypothetical protein LOC400793;uncharacterized protein C1orf226 protein-coding ENSG00000239887 HGNC:34351 VALIDATED 6480141 C1orf233 chromosome 1 open reading frame 233 FOUND IN integral component of membrane (inferred) 1 1 1 p36.33 1045618 1046671 + 1533388 1535476 - 1598008 1600096 - 12477932;24250222;8889548 643988 F2Z333 AB188495;ABBA01016056;ABBA01016057;ABBA01016058;ABBA01016059;ABBA01016060;ABBA01016061;ABBA01016062;AL691432;AMYH02000106;BC013276;BC070393;BU733865;NM_001242659 F2Z333;NP_001229588 Hs.528816 fibronectin type-III domain-containing transmembrane protein C1orf233;uncharacterized protein LOC643988 protein-coding ENSG00000228594 HGNC:42951 VALIDATED 1603331 C1orf229 chromosome 1 open reading frame 229 1 1 1 q44 220569764 220572019 - 247273462 247275719 - 247110160 247112417 - 388759 Q6ZS94 ABBA01031779;ABBA01031780;AK127619;AL390728;AMYH02003131;NM_207401 AAI56416;AAI72473;BAC87060;NP_997284;Q6ZS94 Hs.456511 5014051;5022200;5037552 D8S2278;D8S2279;L18426 FLJ45717 OTTHUMP00000228876;putative uncharacterized protein C1orf229 protein-coding ENSG00000221953 HGNC:33759 13511 PREDICTED 1342892 C1orf30 chromosome 1 open reading frame 30 140784 HGNC:17977 1606401 C1orf228 chromosome 1 open reading frame 228 1 1 1 p34.1 43423283 43474156 + 45140370 45191263 + 44674698 44725591 + 12477932;24250222 339541 C9J477;C9J579;C9JA22;C9JCY2;F8WDG2;H7C5J1;Q6PIY5 ABBA01050915;ABBA01050916;ABBA01050917;ABBA01050918;AL122004;AMYH02000918;AY254217;BC026115;BX112141;CH471059;NM_001145636;XM_005270805;XM_005270806;XM_006710603;XM_006710604;XR_246261;XR_246262;XR_246263;XR_246264 AAH26115;AAP80384;EAX07026;EAX07027;NP_001139108;Q6PIY5;XP_005270862;XP_005270863;XP_006710666;XP_006710667 Hs.173679 1676994;1692428;2183364 AL033863;RH98387;SHGC-74737 MGC33556;NCRNA00082;p40 OTTHUMP00000212437;hypothetical protein LOC339541;uncharacterized protein C1orf228 protein-coding ENSG00000198520 HGNC:34345 17525 VALIDATED 1603678 C1orf43 chromosome 1 open reading frame 43 ENCODES a protein that exhibits coenzyme binding (inferred); oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; disodium selenite; hydrogen peroxide 1 1 1 q21.2 127250901 127264989 - 154179183 154193273 - 154206707 154220797 - 6480464 11042152;11230159;12477932;15489334;16094384;16710414;17207965;18029348;21906983;21963094;22505724;23167344 25912 Q09GN0;Q9BWL3;X6R6F3;X6R6S3 ABBA01049475;ABBA01049476;AF077036;AF109185;AF529365;AJ243663;AJ243664;AJ243665;AK290583;AL117463;AL540989;AL590431;AMYH02001919;BC000152;BC001377;BC006514;BC008306;BC014391;BC088353;BG478941;BU072807;CD247026;CF123260;CH471121;CR457131;DB457727;DQ908899;DR007097;NM_001098616;NM_001297717;NM_001297718;NM_001297720;NM_001297721;NM_001297723;NM_015449;NM_138740;XM_005245077 AAD27769;AAH00152;AAH01377;AAH06514;AAH08306;AAH14391;AAH88353;AAQ09599;AAQ13494;ABI60896;ADQ31620;BAF83272;CAB55939;CAB65094;CAB65095;CAB65096;CAG33412;EAW53221;EAW53222;EAW53223;EAW53224;EAW53225;EAW53226;EAW53227;NP_001092086;NP_001284646;NP_001284647;NP_001284649;NP_001284650;NP_001284652;NP_056264;NP_620077;Q9BWL3;XP_005245134 Hs.287471 1735654;1739155;1848456;1850070;2138400;2147428;2171874;5016478;5037552 A002G29;D1S1842E;D1S1900E;D1S2274;D8S2279;D9S2048;GDB:434012;RH11751;RH12547 DKFZp586G1722;HSPC012;MGC111001;NICE-3;NS5ATP4;S863-3 HCV NS5A-transactivated protein 4;OTTHUMP00000034197;OTTHUMP00000034198;OTTHUMP00000034199;OTTHUMP00000034200;OTTHUMP00000034201;OTTHUMP00000034202;hepatitis C virus NS5A-transactivated protein 4;hypothetical protein LOC25912;uncharacterized protein C1orf43 protein-coding ENSG00000143612 HGNC:29876 16636 VALIDATED 1349502 C1orf5 chromosome 1 open reading frame 5 10759 HGNC:1236 1312112 C1orf35 chromosome 1 open reading frame 35 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH 5-fluorouracil; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 1 1 1 q42.13 201478660 201481254 - 228288428 228293112 - 228100727 228103441 - 6480464 12477932;12545221;14702039;15489334;15635413;16189514;16196087;16710414;19060904;21044950;21139048;21145461;21832049;23602568;24250222;24654937;24778252 79169 Q9BU76 ABBA01005830;AK123377;AK126087;AL136379;AMYH02002837;AY137773;BC002843;BC062585;CH471098;NM_024319;XR_247040 AAH02843;AAH62585;AAN15215;ACE87052;ACE87734;BAC85598;BAC86431;EAW69837;EAW69838;EAW69839;NP_077295;Q9BU76 Hs.445952 1644601;2186213 SHGC-76454;SHGC-76467 MGC4174;MMTAG2;hMMTAG2 OTTHUMP00000035918;multiple myeloma transforming 2;multiple myeloma tumor-associated protein 2 protein-coding ENSG00000143793 HGNC:19032 08512;10090 PROVISIONAL 7256452 C1orf234 chromosome 1 open reading frame 234 1 1 1 p36.12 21659454 21664468 - 23337327 23342343 - 23010834 23015850 - 729059 H3BTG2 ABBA01059859;ABBA01059860;AI652913;AL031428;AL355534;AMYH02000482;BX351337;BX377446;LN607851;NM_001242521 H3BTG2;NP_001229450 Hs.236896 uncharacterized protein C1orf234;uncharacterized protein LOC729059 protein-coding HGNC:44651 VALIDATED 1350429 C1orf50 chromosome 1 open reading frame 50 INTERACTS WITH elemental selenium; methyl methanesulfonate; paracetamol 1 1 1 p34.2 41514848 41523350 + 43232916 43241413 + 42767245 42775742 + 737633;6480464 12477932 15146197;15489334;16344560;21139048;24250222;24816145;8889548 79078 B4DSR2;Q9BV19;R4GMT4 AA741374;ABBA01050974;AC098484;AMYH02000885;BC001508;BC001711;BE464824;BM702424;CH471059;CN256666;DA684965;NM_024097;NR_040733 AAH01508;AAH01711;ADZ15681;EAX07138;EAX07139;EAX07140;EAX07141;NP_077002;Q9BV19 Hs.148845 1678937;1732888;1773511;2169331 D1S1307;RH92982;SHGC-2670;SHGC-74725 MGC955 OTTHUMP00000008833;hypothetical protein LOC79078;uncharacterized protein C1orf50 protein-coding ENSG00000164008 HGNC:28795 14714 VALIDATED 1346906 C1orf27 chromosome 1 open reading frame 27 ENCODES a protein that exhibits oxidoreductase activity (inferred); zinc ion binding (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; isotretinoin 1 1 1 q25 159455598 159501227 + 186344890 186390503 + 186375758 186421371 + 6480464 11318611;12477932;12868032;15718105;16344560;18187418;21139048;21706016;24250222 54953 Q5SWX8 ABBA01027704;AF214011;AK000171;AK000512;AK026086;AK298107;AL596220;AMYH02002312;AY854248;BC003397;CH471067;DB116803;DQ323046;DQ529299;NM_001164245;NM_001164246;NM_017847;XM_006711399;XM_006711400;XR_241088;XR_241089;XR_426787 AAH03397;AAL56643;AAW30011;ABC50092;ABF71985;BAA91218;BAB15356;BAG60392;EAW91207;EAW91208;EAW91209;NP_001157717;NP_001157718;NP_060317;Q5SWX8;XP_006711462;XP_006711463 Hs.371210 1337574;1768340;1772829;1848387;2126689;2130548;2150456;2187072;2219226;2220362 D1S2138;OCLM__6101;RH17859;RH46918;RH67877;SHGC-34113;SHGC-76036;UniSTS:480712;UniSTS:495134;WI-22547 FLJ20505;ODR4;TTG1;hODR-4;odr-4 LAG1-interacting protein;OTTHUMP00000033583;odorant response abnormal 4;protein odr-4 homolog;transactivated by recombinant transforming growth factor beta;transactivated by transforming growth factor beta protein 1 protein-coding ENSG00000157181 HGNC:24299 12723 609335 VALIDATED 1606237 C1orf54 chromosome 1 open reading frame 54 FOUND IN extracellular region (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; cadmium atom 1 1 1 q21.2 123360914 123369066 + 150244687 150253335 + 150272284 150280924 + 6480464 11076863;12477932;14702039;15489334;15489336;16381901;16710414 79630 Q5TB16;Q8WWF1 AA095731;ABBA01049330;ABBA01049331;AC242988;AI004135;AI342055;AK026874;AL138795;AX770987;AX770997;AX770998;AX770999;AX970584;BC017761;CH471121;DA358536;NM_001301039;NM_001301040;NM_001301041;NM_001301042;NM_024579;T82829;W93038;XM_005245488;XM_006711538;XM_006711539;XM_006711540 AAH17761;BAB15579;CAE01160;CAE01161;CAE01162;CAE01280;CAE01282;CAF15692;CAI22814;CAI22815;CAL37698;CAL37836;CAL37944;CAL38127;CAL38340;CAL38425;CAL38495;CAL38528;CAL38617;EAW53568;EAW53569;NP_001287968;NP_001287969;NP_001287970;NP_001287971;NP_078855;Q8WWF1;XP_005245545;XP_006711601;XP_006711602;XP_006711603 Hs.91283 FLJ23221 OTTHUMP00000014530;OTTHUMP00000014531;OTTHUMP00000014532;hypothetical protein LOC79630;uncharacterized protein C1orf54 protein-coding ENSG00000118292 HGNC:26258 08020 VALIDATED 1606868 C1orf53 chromosome 1 open reading frame 53 INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; benzo[a]pyrene 1 1 1 q31.3 170994586 170999402 + 197871682 197876497 + 197902552 197907367 + 6480464 12477932;15489334;15897902;16710414;23128233;24250222 388722 H7C0U6;Q5VUE5 ABBA01027585;AL590115;AMYH02002440;BC038214;BC130608;BC130634;CH471067;NM_001024594 AAI30609;AAI30635;ADR82820;EAW91286;NP_001019765;Q5VUE5 Hs.61329 OTTHUMP00000033684;OTTHUMP00000033685;hypothetical protein LOC388722;uncharacterized protein C1orf53 protein-coding ENSG00000203724 HGNC:30003 18611 VALIDATED 1346419 C1orf52 chromosome 1 open reading frame 52 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; cyclosporin A 1 1 1 p22.3 83960049 83969784 - 85715636 85725355 - 85249953 85259672 - 737633;6480464 12477932 11891061;15489334;15592455;16344560;16710414;17081983;19773279;20360068;20467438;21139048;21890473;21963094;24816145 148423 Q8N6N3 ABBA01045640;AF387611;AF387612;AK126929;AL590113;AMYH02001382;AY486331;AY486332;BC029538;BX118798;CH471097;DA214065;NM_198077;NR_024113 AAH29538;AAL91352;AAL91353;AAS57906;AAS57907;BAG54401;EAW73209;NP_932343;Q8N6N3 Hs.26226 1648111 SHGC-75084 FLJ44982;RP11-234D19.1;gm117 BCL10-associated gene protein;OTTHUMP00000011650;UPF0690 protein C1orf52;hypothetical protein LOC148423 protein-coding HGNC:24871 16637 VALIDATED 1603359 C1orf64 chromosome 1 open reading frame 64 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; coumestrol; quercetin 1 1 1 p36.13 14810626 14813075 + 16330731 16333184 + 16004236 16006685 + 6480464;8554872 12477932;15489334;16710414;21832049;22341523 149563 Q8NEQ6 ABBA01004687;AK127425;AL355994;AMYH02000377;BC017946;CH471167;NM_178840 AAH17946;BAG54501;EAW51759;NP_849162;Q8NEQ6 Hs.29190 ERRF;MGC24047;RP11-5P18.4 ER-related factor;OTTHUMP00000011115;putative uncharacterized protein C1orf64;uncharacterized protein C1orf64 protein-coding HGNC:28339 14492 PROVISIONAL 1603033 C1orf56 chromosome 1 open reading frame 56 FOUND IN cytoplasm; nucleus; INTERACTS WITH all-trans-retinoic acid 1 1 1 q21.3 124135566 124139206 + 151020259 151023896 + 151046979 151051420 + 6480464 12477932;12975309;22133874;24094886 54964 Q9BUN1 ABBA01049368;AK000526;AK315680;AL590133;AMYH02001870;AY358436;BC002469;CH471121;NM_017860;XM_006711401 AAH02469;AAQ88802;BAA91231;BAG38045;EAW53481;EAW53482;NP_060330;Q9BUN1;XP_006711464 Hs.549171 1674806;1687191;1697834;1770794;1851755 RH102442;RH93368;SHGC-57518;SHGC-57939;WI-17680 FLJ20519;MENT;RP11-316M1.9 OTTHUMP00000033119;hypothetical protein LOC54964;methylated in normal thymocytes protein;uncharacterized protein C1orf56 protein-coding ENSG00000143443 HGNC:26045 08625 PROVISIONAL 1603881 C1orf67 chromosome 1 open reading frame 67 ENCODES a protein that exhibits ATP binding (inferred); microtubule motor activity (inferred); INVOLVED IN metabolic process (inferred); microtubule-based movement (inferred); FOUND IN cilium (inferred); cytoplasm (inferred); dynein complex (inferred) q42.12 6480464 12477932;15146197 200095 AC093560;AI076810;AL590547;BC017415;BC042869;BC119716;BC119717;CH471098;CN257875;NM_144989 AAI19717;AAI19718;CAH73045;EAW69735;EAW69740;NP_659426;Q0VDD8 Hs.133977 MGC149665;MGC149666;MGC27277;MGC51214 protein-coding HGNC:28411 1601890 C1orf81 chromosome 1 open reading frame 81 q32.1 647215 AC099756;DQ983818;XM_930255;XM_930256;XM_940946 XP_935348;XP_935349;XP_946039 Hs.576503 1848272 AL009556 protein-coding HGNC:33122 1607071 C1orf61 chromosome 1 open reading frame 61 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; cadmium dichloride; calcitriol 1 1 1 q22 129446984 129472113 - 156374048 156426441 - 156404256 156456591 - 6480464;8554872 10995546;12477932;14702039;19922823;22589738;23012322 10485 H0Y3T1;H3BLW3;Q13536;Q86W69;X6R5L4 ABBA01016658;AK095622;AK095626;AL139130;AL139412;AMYH02001971;BC010558;BC016405;BC050448;BC050741;BC054045;BC059943;BC107686;BC128199;BC128200;BC141918;BC141919;CH471121;NM_006365;U49857;XM_005244832;XM_006711117;XM_006711118;XM_006711119;XR_426755 AAA93029;AAH50448;AAH59943;AAI52850;AAI56769;BAC04592;EAW52956;NP_006356;Q13536;XP_005244889;XP_006711180;XP_006711181;XP_006711182 Hs.380027 1659756;1694598;2111139;2135449;2147905;2158073 A002A24;D1S367E;G43296;RH12034;RH70654;STS-D51616 CROC4;FLJ38303;RP11-139I14.3 OTTHUMP00000029020;OTTHUMP00000029024;contingent replication of cDNA 4;contingent replication of cDNA-4;protein CROC-4;transcriptional activator of the c fos promoter;transcriptional activator of the c-fos promoter protein-coding ENSG00000125462 HGNC:30780 09899 PROVISIONAL 1603567 C1orf84 chromosome 1 open reading frame 84 1 1 p34.2 42137708 42154717 + 43855556 43872565 + 10737800;12477932;14702039;15028280 149469 AK091821;AL139289;AL583862;BC017576;BC051343;BF926328;BF927604;BU101724;NM_001012961 AAH17576;BAC03755;CAI23383;CAI23384;NP_001012979 Hs.711213 FLJ34502;RP11-506B15.1;SZT2A OTTHUMP00000008576;OTTHUMP00000008577;OTTHUMP00000205510;hypothetical protein LOC149469;seizure threshold 2 homolog A protein-coding HGNC:27144 14085 VALIDATED 1602382 C1orf68 chromosome 1 open reading frame 68 FOUND IN extracellular vesicular exosome 1 1 1 q21.3 125770080 125770987 + 152691998 152692905 + 152719522 152720429 + 11181995;11698679;16710414;17562024;20200978;20360068;21139048;9344646 100129271 Q5T750 ABBA01049425;AC246972;AF005081;AL353779;CH471121;CU446285;CU457096;NM_001024679 AAB83961;EAW53369;NP_001019850;Q5T750 Hs.601077 LEP7;XP32 OTTHUMP00000014332;skin-specific protein (xp32);skin-specific protein 32 protein-coding ENSG00000198854 HGNC:29468 VALIDATED 1606707 C1orf74 chromosome 1 open reading frame 74 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cyclosporin A; vincristine 1 1 1 q32.2 183186556 183188784 - 209955662 209957890 - 209782317 209784545 - 6480464;8554872 12477932;14702039;15489334;16710414;24250222 148304 Q96LT6 ABBA01048213;AK057807;AL022398;AMYH02002600;BC039719;CH471100;NM_152485 AAH39719;BAB71584;EAW93440;NP_689698;Q96LT6 Hs.497642 1683289;1689604;2167949 RH67815;RH98921;SHGC-76222 FLJ25078 OTTHUMP00000034651;UPF0739 protein C1orf74;hypothetical protein LOC148304 protein-coding HGNC:26319 08682 PROVISIONAL 1602078 C1orf85 chromosome 1 open reading frame 85 ENCODES a protein that exhibits ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity; ligand-dependent nuclear receptor transcription coactivator activity; sequence-specific DNA binding transcription factor activity; INVOLVED IN intracellular receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; lysosome; nucleus; INTERACTS WITH atrazine; cadmium atom; cadmium dichloride 1 1 1 q22 129335452 129338417 - 156262478 156265480 - 156292687 156295689 - 6480464;8554872 12477932;12975309;15231747;15342556;16303743;16341674;16344560;18021396;19489740;19556463;20139978;8889548 112770 Q8WWB7;V9GXZ9;V9GYX8;V9GYY1;V9GYZ8;X6R6A3 ABBA01016664;AK075349;AK296157;AL528533;AL589685;AMYH02001969;AW293248;AY358450;BC011575;BC018757;BC036340;BM833126;BP302818;CA428514;CH471121;CN479212;CS051139;CS072256;CX756681;DA537642;N72839;NM_001256604;NM_001256605;NM_001256608;NM_001256609;NM_144580;XM_005244864;XR_426762 AAH11575;AAH18757;AAH36340;AAQ88815;BAC11561;BAG58896;CAI72065;CAI93394;EAW52968;EAW52969;NP_001243533;NP_001243534;NP_001243537;NP_001243538;NP_653181;Q8WWB7;XP_005244921 Hs.202522 1652543;1686360;2113474 D1Z10;RH69259;RH92907 MGC31963;NCU-G1;RP11-443G18.2 OTTHUMP00000021233;kidney lysosomal membrane protein;kidney predominant protein NCU-G1;lysosomal protein NCU-G1 protein-coding ENSG00000198715 HGNC:29436 14544 VALIDATED 1602983 C1orf87 chromosome 1 open reading frame 87 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH hydroquinone O-beta-D-glucopyranoside; kojic acid 1 1 1 p32.1 58744771 58828195 - 60456066 60539442 - 59990394 60073770 - 6480464;8554872 12477932;21832049;24024966 127795 C9JPP7;Q8N0U7 ABBA01074644;AC097066;AK124828;AK126061;AMYH02001109;AMYH02001110;BC027878;BC042203;CD707889;CH471059;NM_152377 AAH27878;AAH42203;BAC86420;BAG54102;EAX06609;EAX06610;NP_689590;Q8N0U7 Hs.47385 1653982;1671137;1692212;1692894;1727343 AL009480;AL009881;AL033761;AL034159;G63079 CREF;FLJ44073;MGC34837 OTTHUMP00000010551;hypothetical protein LOC127795;uncharacterized protein C1orf87 protein-coding ENSG00000162598 HGNC:28547 11338 VALIDATED 1604208 C1orf86 chromosome 1 open reading frame 86 ENCODES a protein that exhibits K63-linked polyubiquitin binding; polyubiquitin binding; ubiquitin binding; INVOLVED IN cellular response to DNA damage stimulus; interstrand cross-link repair; translesion synthesis; FOUND IN cell junction; chromosome; Fanconi anaemia nuclear complex; INTERACTS WITH atrazine; diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p36.33 453322 477308 + 2115899 2144159 - 2184460 2212720 - 6480464 11181995;12136098;12477932;14702039;15146197;16344560;19322201;22266823;22396592;22705371;24250222;24910428;8889548 199990 H7C2E6;H7C361;H7C3A6;Q6NZ36;Q6ZRT9;Q7Z4P6 ABBA01016086;ABBA01016087;AF461903;AF469129;AJ327662;AK054818;AK055593;AK093927;AK125445;AK126870;AK127994;AK128507;AL545931;AL590822;AMYH02000116;AMYH02000117;AMYH02000118;BC041041;BC066360;BC078145;BC103992;BG825658;BM127377;BM674927;BM682341;BU192678;BU542153;BU626113;CH471183;CN397640;DA596011;NM_001146310;NM_001256945;NM_001256946;NM_001256947;NM_001282670;NM_001282671;NM_001282672;NM_001282673;NM_182533;NR_046427;XM_006710419;XM_006710420;XM_006710421 AAH66360;AAI03993;AAP97719;AAQ04817;BAB70965;BAC04254;BAC86730;BAC87220;EAW56125;EAW56126;EAW56127;EAW56128;EAW56129;NP_001139782;NP_001243874;NP_001243875;NP_001243876;NP_001269599;NP_001269600;NP_001269601;NP_001269602;NP_872339;Q6NZ36;XP_006710482;XP_006710483;XP_006710484 Hs.107101 1334568;1667480;1679804;1699590;1758967;1769715;2177973;5014003;5015619;5015961;5022322;5022578;5022651;5037552;5112017;5125079;7183686 D11S2560;D11S2921;D11S3114;D15S1477;D17S1136;D1S1423;D1S243;D8S2279;G44365;RH103396;RH16310;RH98469;SHGC-3360;SHGC-74104;SHGC-74107;SHGC-74115 FAAP20;FLJ30256;FLJ31031;FLJ36608;FLJ43456;FLJ46660;FP7162;MGC120153;RP11-181G12.3 Fanconi anemia-associated protein of 20 kDa;OTTHUMP00000039102;OTTHUMP00000196439;OTTHUMP00000196440;OTTHUMP00000196441;OTTHUMP00000196443;OTTHUMP00000196444;hypothetical protein LOC199990;uncharacterized protein C1orf86 protein-coding ENSG00000162585 HGNC:26428 08707 615183 VALIDATED 1602848 C1orf94 chromosome 1 open reading frame 94 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH dioxygen (ortholog) 1 1 1 p34.3 32904826 32956861 + 34632624 34684732 + 34166883 34219131 + 6480464;8554872 12477932;14702039;15146197;16189514;16344560;16713569;16751776;17207965;22949513;23088713;24722188 84970 Q6P1W5 AA725646;ABBA01023367;ABBA01023368;AC115286;AK123355;AMYH02000743;AMYH02000744;AW117410;BC007637;BC064845;CH471059;CN366753;DA714248;DB456109;NM_001134734;NM_032884 AAH07637;AAH64845;ADQ32171;BAG53893;EAX07445;EAX07446;NP_001128206;NP_116273;Q6P1W5 Hs.194610 1338171;1713513;1752649;2134459;2151553 AFMb043xh1;D1S2613;G16319;RH120241;SHGC-106497 MGC15882 OTTHUMP00000004131;OTTHUMP00000235371;hypothetical protein LOC84970;uncharacterized protein C1orf94 protein-coding ENSG00000142698 HGNC:28250 11310 VALIDATED 1605215 C1orf95 chromosome 1 open reading frame 95 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; amiodarone 1 1 1 q42.12 199927428 199984233 + 226736501 226796915 + 226548800 226609214 + 6480464;8554872 11076863;11230166;15489336;16381901;16710414;20379614;8619474;9110174 375057 F8WD64;Q69YW2 ABBA01009636;ABBA01009637;AF035308;AL134612;AL137507;AL357122;AL359704;AL365444;AMYH02002818;NM_001003665 AAI41660;CAH10697;CAL38625;NP_001003665;Q69YW2 Hs.116827 1643632;1699822;1727339;1732910;1754395;1761731;1778334;2140226;2162443;2166507;2170042 D1S1320;D1S1836E;D1S2578;G63077;RH103518;SHGC-132406;SHGC-145705;SHGC-2930;STS-Z40703;WI-13390;WI-15617 DKFZp761P211;RP11-9C4.1 OTTHUMP00000035707;hypothetical protein LOC375057;spec3-like;uncharacterized membrane protein C1orf95 protein-coding ENSG00000203685 HGNC:30491 16821 VALIDATED 1346671 C1QB complement component 1, q subcomponent, B chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the B-chain polypeptide of human complement subcomponent C1q [provided by RefSeq, Jul 2008] 1 1 1 p36.12 21304397 21312691 + 22979682 22988130 + 22653189 22661637 + 1599518;1599508;1599509;1599510;1580863;6480464;6907045;7240710;8699517;8554872 1362796;16345062;16677633;16934480 10471215;10504397;10882776;11318594;12396016;12477932;1249422;12645945;12847249;12960167;1370572;15034050;1537612;15489334;15709773;16289162;16566583;16710414;1706597;1744579;17513176;18174230;18505047;1875953;19344414;19423540;19493541;20139276;20237496;20379614;20406964;20438785;20528885;21698244;21862594;21951915;21988832;22740328;23607884;23650384;23720782;23750785;24457600;24739385;2894352;3000358;3180845;486087;6208566;6981411;708376;7240;7507842;7642209;7739575;7939135;814163;8245486;8252810;9184145;9443108;9444979;9777412;9780209 713 D6R934;D6RGJ1;P02746 ABBA01059851;AL158086;AMYH02000478;BC008983;BQ711602;CH471134;K03430;L80036;M36278;NG_007283;NM_000491;X03084;XM_005245982 AAC41692;AAH08983;AAQ67338;ABM82457;ABM85646;CAA26880;EAW95019;EAW95020;EAW95021;NP_000482;P02746;XP_005246039 Hs.8986 1775112;1778347;1791586;1797334;2123915;2132363 C1QB_68.2;PMC115884P1;RH70806;RH78269;SHGC-74363;SHGC-74365 OTTHUMP00000002940;OTTHUMP00000002941;OTTHUMP00000217779;complement C1q subcomponent subunit B;complement component 1, q subcomponent, beta polypeptide;complement component C1q, B chain;complement subcomponent C1q chain B APPROVED protein-coding ENSG00000173369 HGNC:1242 00394 120570;613652 REVIEWED 1315493 C1QA complement component 1, q subcomponent, A chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. [provided by RefSeq, Jul 2008] 1 1 1 p36.12 21287826 21290883 + 22963118 22966175 + 22636625 22639682 + 1600549;1580863;6480464;6907045;7240710;8699517;8554872 8840296 10490997;10504397;10528211;10878362;11318594;11714829;12396016;12477932;1249422;12630757;12645945;12847249;12960167;1431141;15034050;15174051;15231748;1537612;15489334;15878871;16046396;16335952;16465510;16566583;16710414;1706597;17207965;1744579;17929239;18029348;18054386;18174230;18406463;18504288;18505047;1875953;18927313;19423540;19440201;19484134;19493541;19656971;19896716;19913121;20008834;20139276;20237496;20332777;20406964;20438785;20496011;20528885;20560256;20628086;21134100;21159384;21256764;21343881;21382349;21429584;21862594;21951915;21968398;21988832;22236909;22260551;22321011;22356764;22472776;22700724;22740328;22879587;23080069;23086952;23607884;23650384;23720782;2372546;23991234;24053688;24331529;24395916;24591625;24739385;486087;6981115;6981411;7240;7507842;7642209;7739575;7939135;814163;8172568;8195709;8245486;8252810;8417122;8778019;9013976;9052718;9184145;9223728;9225968;9443108;9444979;9461517;9476117;9777412;9780209 712 P02745;X6RLJ0 ABBA01059851;AF135157;AF260332;AK311980;AL158086;AMYH02000478;AY789471;BC030153;BC071986;BG548439;BX369252;CH471134;NG_007282;NM_015991 AAD32626;AAG44663;AAH30153;AAH71986;AAV40828;ACE87827;ACT64581;ADQ32158;BAG34919;EAW95014;EAW95015;NP_057075;P02745 Hs.632379 1656224;1775129;1795226 C1QA_66;D1S3273;WI-8760 OTTHUMP00000002936;OTTHUMP00000037919;OTTHUMP00000197085;complement C1q subcomponent subunit A;complement component 1, q subcomponent, alpha polypeptide;complement component C1q, A chain APPROVED protein-coding ENSG00000173372 HGNC:1241 00393 120550;613652 REVIEWED 1347949 C1QBPP complement component 1, q subcomponent binding protein, pseudogene 21 21 21 q21.1 6300879 6301886 - 21131434 21132441 - 19759120 19760127 - 10830953 54098 ABBA01057150;AMYH02037581;AP000568;NG_000929 pseudo HGNC:1244 INFERRED 1342690 C1QBP complement component 1, q subcomponent binding protein The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 5352471 5358843 - 5336099 5342471 - 5432779 5439151 - 1580863;6480464 10022843;10097078;10747014;10823864;10831594;11278463;11290596;11350968;11549288;11773076;11859136;11866440;11870091;12220632;12443542;12477932;12538033;12574814;12833064;14559993;14583623;14667819;15031724;15163734;15231747;15243141;15324660;15467913;15489334;16039650;16140380;16164755;16177118;16196087;16212417;16455055;16537587;16641292;16713569;16721827;16871385;16893067;17314511;17550899;17620012;17620599;17676665;17881511;17892212;17907801;17979178;18172692;1830244;18358546;18460468;18538737;18676636;18757437;18781797;19004836;19149558;19164550;19190731;19423540;19454010;19473882;19523114;19565630;19608861;19710015;19738201;19828637;19836239;19913121;20020773;20100866;20186120;20360068;20406964;20438785;20617170;20628086;20877624;21081666;21139048;21145461;21156793;21205079;21248045;21536672;21536856;21559373;21627988;21725590;21726808;21890473;21906983;21988832;22008525;22101277;22114354;22118674;22145905;22268729;22354994;22451658;22700724;22771308;22863883;22904065;22939629;22952844;22960332;23246001;23264621;23378602;23402259;23438482;23443559;23473034;23667531;23692256;2372546;23798571;23874603;23924515;23929393;23990920;24174616;24244333;24250222;24255178;24390342;24390425;24457600;25027693;7778269;8189522;8195709;8262387;8567680;8626563;8662673;8710908;9284938;9461517;9721222 708 I3L3B0;I3L3Q7;Q07021 ABBA01054814;AC004148;AF275902;AF338439;AJ297362;AK291516;AMYH02032859;BC000435;BC013731;BT019898;BT019899;CH471108;DQ372108;L04636;NM_001212;X75913 AAA16315;AAF78763;AAH00435;AAH13731;AAK26580;AAV38701;AAV38702;ABC79624;ABM82257;ABM84292;ABM85440;ABM87682;BAF84205;CAA53512;CAB95947;EAW90335;EAW90336;EAW90337;NP_001203;Q07021 Hs.555866 1853151;2148420;2184685;2217086;5123392 C1QBP_3122;D17S2014;RH78721;STS-R63801;WI-18770 GC1QBP;HABP1;SF2p32;gC1Q-R;gC1qR;p32;p33 ASF/SF2-associated protein p32;C1q globular domain-binding protein;complement component 1 Q subcomponent-binding protein, mitochondrial;glycoprotein gC1qBP;hyaluronan-binding protein 1;mitochondrial matrix protein p32;splicing factor SF2-associated protein APPROVED protein-coding ENSG00000108561 HGNC:1243 03168 601269 REVIEWED 1350440 C1QL2 complement component 1, q subcomponent-like 2 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN protein oligomerization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN collagen trimer (inferred); extracellular region (inferred); INTERACTS WITH atrazine; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 2 2 2 q14.2 113239899 113242551 - 119913819 119916471 - 119156243 119158895 - 1580863;6480464;8554872 12477932;18783346;20237496 165257 Q7Z5L3 ABBA01045930;ABBA01045931;AC016673;AF525315;AMYH02004643;BC043189;BC067896;BC142965;CH471103;CS057609;NM_182528;XM_006712346 AAP80787;CAI77590;EAW95208;NP_872334;Q7Z5L3;XP_006712409 Hs.433493 C1QTNF10;CTRP10 C1q and tumor necrosis factor related protein 10;C1q and tumor necrosis factor-related protein 10;C1q-domain containing protein;C1q/TNF-related protein 10;OTTHUMP00000203593;complement C1q-like protein 2;gliacolin-like protein-coding ENSG00000144119 HGNC:24181 12713 614330 VALIDATED 1315664 C1QC complement component 1, q subcomponent, C chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. A deficiency in C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N-terminus, and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 21294833 21299316 + 22969969 22974603 + 22643625 22648110 + 1580863;6480464;6907045;8699517;8554872;7240710 10504397;10961870;11076863;11318594;12396016;12477932;1249422;12645945;12847249;12960167;14702039;15034050;15174051;15353007;15489334;15489336;16344560;16381901;16566583;16710414;1706597;1744579;18029348;18174230;18504288;18505047;18703056;1875953;18838169;19115936;19344414;19423540;19493541;19710097;19790049;19913121;20139276;20237496;20406964;20438785;20528885;20628086;20833838;21862594;22264191;22740328;23607884;23650384;23720782;23750785;24157463;3180845;486087;7507842;7590886;7642209;7739575;7939135;814163;8245486;8252810;8630118;9443108;9777412 714 P02747 ABBA01059851;AF087892;AK057792;AK130613;AK226152;AL158086;AMYH02000478;BC009016;BG060138;CB995661;CH471134;DA849505;NG_007565;NM_001114101;NM_172369 AAH09016;AAP97191;BAB71575;CAL37759;CAL38110;CAL38396;EAW95016;EAW95017;EAW95018;NP_001107573;NP_758957;P02747 Hs.467753 2126558;2162810 RH12869;SHGC-74373 C1Q-C;C1QG;FLJ27103 OTTHUMP00000002932;OTTHUMP00000002933;OTTHUMP00000037922;complement C1q subcomponent subunit C;complement component 1, q subcomponent, gamma polypeptide APPROVED protein-coding ENSG00000159189 HGNC:1245 00395 120575;613652 REVIEWED 1314427 C1QL1 complement component 1, q subcomponent-like 1 FOUND IN collagen trimer (inferred); cytoplasm (inferred); extracellular region (inferred); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); atrazine 17 17 17 q21 39747598 39756182 - 43037061 43045644 - 44959693 44968276 - 1580863;6480464 12477932;15489334;19275900;19322201;20237496;23725790;9878755 10882 O75973 ABBA01028341;AC015936;AF095154;AF410771;AMYH02033505;BC008798;CH471178;NM_006688 AAC64186;AAH08798;AAK95248;EAW51563;NP_006679;O75973 Hs.134012 C1QRF;C1QTNF14;CRF C1q and tumor necrosis factor-related protein 14;C1q-related factor;C1q/TNF-related protein 14;OTTHUMP00000222953 protein-coding ENSG00000131094 HGNC:24182 12712 611586 PROVISIONAL 1604955 C1QL4 complement component 1, q subcomponent-like 4 FOUND IN collagen trimer (inferred); extracellular region (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cisplatin 12 12 12 q13.12 48519505 48524276 - 49726200 49730971 - 49332417 49337188 - 6480464 12477932;15489334 338761 Q86Z23 ABBA01031521;ABBA01031522;AC125611;AF466366;AMYH02026445;AX925776;BC110812;CH471111;NM_001008223 AAI10813;AAO33387;CAF02403;EAW58065;NP_001008224;Q86Z23 Hs.380386 C1QTNF11;CTRP11;MGC131708 C1q and tumor necrosis factor-related protein 11;C1q/TNF-related protein 11;OTTHUMP00000241396;complement C1q-like protein 4 protein-coding ENSG00000186897 HGNC:31416 17350 615229 PROVISIONAL 1348725 C1QTNF2 C1q and tumor necrosis factor related protein 2 ENCODES a protein that exhibits identical protein binding (inferred); receptor binding (inferred); INVOLVED IN activation of MAPK activity (inferred); positive regulation of fatty acid oxidation (inferred); positive regulation of glucose import (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN collagen trimer (inferred); extracellular space (inferred); INTERACTS WITH 1-nitropyrene; aflatoxin B1; trichostatin A 5 5 5 q33.3 155807245 155830113 - 159774761 159797657 - 160347754 160370650 - 1580863;6480464;8554872 12477932;12975309;15489334;23643386 114898 Q9BXJ5 ABBA01044220;ABBA01044221;AC091842;AC112191;AF329836;AMYH02012605;AY358839;BC011699;BC054506;CH471062;NM_031908;XM_005265815;XM_005265816 AAH11699;AAH54506;AAK17960;AAQ89198;ABM84187;ABM87589;EAW61561;NP_114114;Q9BXJ5;XP_005265872;XP_005265873 Hs.110062 1683771;2117440;5015961;5094934 C1QTNF2;D15S1477;RH94108;SHGC-57747 CTRP2;zacrp2 OTTHUMP00000160840;complement C1q tumor necrosis factor-related protein 2;complement-c1q tumor necrosis factor-related protein 2 protein-coding ENSG00000145861 HGNC:14325 12715 VALIDATED 7244829 C1QTNF1-AS1 C1QTNF1 antisense RNA 1 17 17 17 73613517 73621920 - 77015291 77023737 - 79019209 79027655 - 16344560 100507410 ABBA01002902;AC073624;AI031573;AMYH02034080;BC039683;DA938488;KF456331;LK938157;LK938158;NR_040018;NR_040019 Hs.666723 1338130;1699854;1759661 D17S1847;RH103534;SHGC-151249 ncrna ENSG00000265096 HGNC:44351 VALIDATED 7367995 C1QTNF3-AMACR C1QTNF3-AMACR readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring C1q and tumor necrosis factor related protein 3 (C1QTNF3) and alpha-methylacyl-CoA racemase (AMACR) genes on chromosome 5. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus not likely to produce a protein product. [provided by RefSeq, Mar 2011] 5 5 p 33987091 34035863 - 33986986 34124528 - 8554872;6480464 20967262 100534612 AB209261;ABBA01066761;ABBA01066762;ABBA01066763;AC139783;AC139792;AMYH02011144;NR_037951 BAD92498 Hs.171929 2137405 WI-16117 ncrna HGNC:49198 VALIDATED 1350694 C1QTNF1 C1q and tumor necrosis factor related protein 1 ENCODES a protein that exhibits collagen binding; INVOLVED IN negative regulation of platelet activation; negative regulation of platelet aggregation; positive regulation of aldosterone secretion; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; integral component of plasma membrane; INTERACTS WITH (+)-catechin; cyclosporin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q25.3 73618468 73644096 + 77019016 77045870 + 79022934 79049788 + 1580863;6480464;8554872 12409230;12477932;12975309;14702039;15489334;16189514;16195328;16303743;16344560;16386877;16713569;16806199;18171693;18783346;18842294;21078624;23000311;23383108 114897 Q9BXJ1 ABBA01002902;AC073624;AF232905;AF329840;AJ272138;AK055541;AK075175;AK172767;AK292034;AMYH02034080;AY358424;BC021553;CD250839;CH471099;CQ764845;CQ783254;DA877694;DA910618;DB126803;KF456330;KF456331;NM_030968;NM_153372;NM_198593;NM_198594;NR_049769;XM_006721663;XM_006721664;XM_006721665;XM_006721666;XM_006721667 AAG44303;AAH21553;AAK17964;AAQ88790;ABM83468;ABM86679;BAB70947;BAC11451;BAD18750;BAF84723;CAC20425;CAF32794;CAF86457;EAW89557;EAW89558;NP_112230;NP_699203;NP_940995;NP_940996;Q9BXJ1;XP_006721726;XP_006721727;XP_006721728;XP_006721729;XP_006721730 Hs.201398;Hs.741602 1338130;1649916;1759661 D17S1847;D17S1987;SHGC-151249 CTRP1;FLJ90694;GIP;ZSIG37 G protein coupled receptor interacting protein;complement C1q tumor necrosis factor-related protein 1;g protein-coupled receptor-interacting protein protein-coding ENSG00000173918 HGNC:14324 610365 VALIDATED 1322092 C1QL3 complement component 1, q subcomponent-like 3 INVOLVED IN regulation of synapse organization (inferred); FOUND IN collagen trimer (inferred); extracellular region (inferred); INTERACTS WITH cadmium atom; copper(2+) sulfate; silicon dioxide 10 10 10 p13 16488949 16497211 - 16555742 16564004 - 16513743 16522005 - 6480464 10862616;12477932;14702039;15164054;21378161 389941 Q5VWW1 ABBA01034568;AK094686;AL353576;AL360230;AMYH02022236;AMYH02022237;BC127716;BC127717;CH471072;CS019532;NM_001010908 AAI27717;AAI27718;AAI60038;CAI58841;EAW86225;NP_001010908;Q5VWW1 Hs.676792;Hs.745101 1655529;1688801;2218324 C1QL3_4481;RH48169;RH98481 C1QTNF13;C1ql;CTRP13;K100 C1q and tumor necrosis factor-related protein 13;C1q/TNF-related protein 13;OTTHUMP00000019215;complement C1q-like protein 3 protein-coding ENSG00000165985 HGNC:19359 16632 615227 VALIDATED 1312783 C1QTNF3 C1q and tumor necrosis factor related protein 3 INVOLVED IN cellular triglyceride homeostasis; fat cell differentiation; negative regulation of gene expression; FOUND IN extracellular vesicular exosome; membrane; extracellular space (ortholog); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; hydrogen peroxide 5 5 5 p13 33906383 33931740 - 34017963 34043371 - 34017858 34043266 - 6480464 11071891;12477932;12975309;14654242;14702039;16213490;16303743;17311679;17534697;18421280;19199708;19946888;20483475;20634891;20739398;20952387;22837306;23174996;24152681;24417980;24578384 114899 E9PGA6;Q9BXJ4 ABBA01066761;AC139783;AF173888;AF326976;AF329837;AK075533;AK094895;AK127389;AK295968;AK315921;AMYH02011144;AY358388;BC016021;BC112925;BC120990;BX483406;BX640995;CH471118;CS023766;CS051375;EU399231;EU399232;NM_030945;NM_181435 AAI12926;AAI20991;AAK17961;AAK70344;AAQ13635;AAQ88754;ABY86416;ABY86417;BAC11676;BAG54499;BAG58744;BAH14292;CAE45998;CAI59108;CAI72182;EAX10819;EAX10820;EAX10821;NP_112207;NP_852100;Q9BXJ4 Hs.171929 1645945;1657724;1693312;5015881;5022651 D11S2921;G42361;GDB:335751;STS-AA025644;WI-22131 C1ATNF3;CORS26;CTRP3;Corcs;Cors;Cors-26;FLJ37576 OTTHUMP00000115918;OTTHUMP00000219981;cartonectin;collagenous repeat-containing sequence 26 kDa protein;collagenous repeat-containing sequence of 26-kDa;complement C1q tumor necrosis factor-related protein 3;complement-c1q tumor necrosis factor-related protein 3;secretory protein CORS26 protein-coding HGNC:14326 12716 612045 VALIDATED 1318784 C1QTNF5 C1q and tumor necrosis factor related protein 5 This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013] 11 11 11 q23.3 116370323 116378054 - 119209644 119217383 - 119338934 119346673 - 1580863;6480464;7240710;8554872;8699517 11263980;12477932;12944416;12975309;14702039;15340161;15489334;16123441;16376663;16396496;16600989;17249553;17766366;18783346;18842294;19651784;20554618;20621834;22031510;22110650;22183337;22261190;22277927;22632162;22892318;23289492;23430573;7835092;9512423 114902 Q9BXJ0 AB055505;ABBA01039674;AF086482;AF329841;AJ862823;AK055132;AL110261;AMYH02025666;AP003396;AY358383;BC029485;BC036675;CH471065;DB534759;EF444994;NG_012235;NM_001278431;NM_015645 AAH29485;AAK17965;AAQ88749;ACA06014;CAB53702;CAH93522;EAW67481;EAW67482;NP_001265360;NP_056460;Q9BXJ0 Hs.632102 1847650;2219924 D11S869E;MFRP__6310 CTRP5;DKFZp586B0621;FLJ30570;LORD C1q TNF-alpha-related protein 5;complement C1q tumor necrosis factor-related protein 5;myonectin APPROVED protein-coding ENSG00000223953 HGNC:14344 10575 605670;608752 REVIEWED 1322231 C1QTNF4 C1q and tumor necrosis factor related protein 4 ENCODES a protein that exhibits cytokine activity (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH all-trans-retinoic acid; trichostatin A; valproic acid 11 11 11 q11 47753979 47758717 - 47611216 47615961 - 47589664 47594409 - 6480464 12477932;15489334;16094384;21658842;24366864 114900 E9PPZ5;Q9BXJ3 ABBA01060698;ABBA01060699;AC104942;AF329838;AMYH02024734;BC035628;BI756346;CH471064;CS208003;NM_031909 AAH35628;AAK17962;CAJ44927;EAW67893;NP_114115;Q9BXJ3 Hs.662633 CTRP4;ZACRP4 OTTHUMP00000234365;complement C1q tumor necrosis factor-related protein 4;complement-c1q tumor necrosis factor-related protein 4 protein-coding ENSG00000172247 HGNC:14346 12717 614911 VALIDATED 1315898 C1QTNF7 C1q and tumor necrosis factor related protein 7 INVOLVED IN protein homooligomerization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN collagen trimer (inferred); extracellular space (inferred); INTERACTS WITH 17beta-estradiol; MeIQx; progesterone 4 4 4 p15.3 15805380 15911648 + 15341560 15447791 + 15339936 15446167 + 1580863;6480464;8554872 12477932;15489334;16344560;19344414;20585324;23824909;24324551 114905 J3KPK0;Q9BXJ2 ABBA01032569;ABBA01032570;AC007016;AC099550;AF329839;AK314802;AMYH02008798;BC022187;BC024015;BE856929;BX647781;CH471069;DB069980;DB290077;NM_001135170;NM_001135171;NM_031911 AAH22187;AAH24015;AAK17963;ACE87828;ACT64539;BAG37330;EAW92731;NP_001128642;NP_001128643;NP_114117;Q9BXJ2 Hs.153714 1647888;1711876;1768319;1784996;1846945;2181127;5017535 C1QTNF7;G01801;G49547;SHGC-112449;SHGC-59710;SHGC-67625;WI-3239 CTRP7;ZACRP7 OTTHUMP00000122629;OTTHUMP00000159165;OTTHUMP00000217620;OTTHUMP00000217621;complement C1q tumor necrosis factor-related protein 7;complement-c1q tumor necrosis factor-related protein 7 protein-coding ENSG00000163145 HGNC:14342 16633 VALIDATED 6481186 C1QTNF9-AS1 C1QTNF9 antisense RNA 1 q12.12 100874232 AL359736 APPROVED ncrna HGNC:39906 1316024 C1QTNF6 C1q and tumor necrosis factor related protein 6 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN protein heterotrimerization (inferred); FOUND IN collagen trimer (inferred); extracellular space (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; arsenite(3-); cadmium atom 22 22 22 q13.1 21377248 21385372 - 37576206 37594341 - 37180166 37190928 - 6480464 12477932;12975309;15340161;15461802;15489334;18978792;19073967;19430480;20203524;20410501;21508531;22493691;23612905;24324551;8889548 114904 F8WC87;Q9BXI9 ABBA01055461;AF329842;AK128125;AK226149;AK314060;AMYH02038330;AY358374;BC020551;BM678522;BM722009;BQ674594;BU147265;BU535692;BU542015;BU859813;CB961508;CH471095;CR456451;NM_031910;NM_182486;XM_005261325;XM_006724125;Z82188 AAH20551;AAK17966;AAQ88740;ABM82401;ABM85589;BAC87283;BAG36766;CAG30337;CAK54433;CAK54732;EAW60145;EAW60146;NP_114116;NP_872292;Q9BXI9;XP_005261382;XP_006724188 Hs.22011 1690374;2146893;5037552 D8S2279;RH91409;STS-AA011279 CTFP6;CTRP6;ZACRP6 OTTHUMP00000197772;OTTHUMP00000197774;complement C1q tumor necrosis factor-related protein 6;complement-c1q tumor necrosis factor-related protein 6 protein-coding ENSG00000133466 HGNC:14343 12718 614910 VALIDATED 1605504 C1QTNF9B C1q and tumor necrosis factor related protein 9B FOUND IN extracellular vesicular exosome; INTERACTS WITH dibutyl phthalate (ortholog); trimellitic anhydride (ortholog) 13 13 13 q12.12 5528082 5533781 - 24465238 24471145 - 23891099 23897502 - 6480464 12477932;17544811;19666007;21640322 387911 B2RNN3 ABBA01007883;AL445985;AMYH02027697;AX525130;BC110413;BC137004;BC137006;BC144450;NM_001007537;NR_104426 AAI10414;AAI37005;AAI37007;B2RNN3;CAD57043;NP_001007538 Hs.740810 1697282 RH102138 CTRP9B;MGC117159;RP11-45B20.2 C1q/TNF-related protein 9B;OTTHUMP00000018118;OTTHUMP00000018120;collagen triple helix repeat-containing;complement C1q and tumor necrosis factor-related protein 9B;complement C1q tumor necrosis factor-related protein 9-like;complement C1q tumor necrosis factor-related protein 9B protein-coding ENSG00000205863 HGNC:34072 17369 614148 VALIDATED 1602383 C1QTNF9B-AS1 C1QTNF9B antisense RNA 1 FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 13 13 13 q12 5525682 5528896 + 24463028 24466242 + 23888889 23892103 + 6480464 12477932;15930275;16344560;21640322 542767 Q58A44 AB113650;ABBA01007883;AL445985;AMYH02027697;BC015452;BC073902;BC132842;BC132846;BC142999;DA867579;HG505463;NM_001014442;NM_001135816 AAI40048;BAD93185;NP_001014442;NP_001129288;Q58A44 Hs.642624 1697282;1715469 RH102138;RH120899 PCOTH;RP11-45B20.3 C1QTNF9B antisense RNA 1 (non-protein coding);C1QTNF9B antisense gene protein 1;prostate collagen triple helix protein APPROVED protein-coding HGNC:39839 18678 VALIDATED 1345449 C1QTNF8 C1q and tumor necrosis factor related protein 8 ASSOCIATED WITH Melanoma (inferred); FOUND IN collagen trimer (inferred); extracellular region (inferred) 16 16 16 p13.3 1352946 1361608 - 1138226 1146244 - 1088226 1096244 - 8554872 12975309;19666007;24014093 390664 P60827 ABBA01030330;AC009041;AL031713;AMYH02031214;AY358832;CH471112;FJ422561;NM_207419;XR_243281 AAI56256;AAI57037;AAQ89191;ACJ46463;EAW85686;NP_997302;P60827 Hs.527853 CTRP8;UNQ5829 C1q/TNF-related protein 8;OTTHUMP00000236763;complement C1q tumor necrosis factor-related protein 8 protein-coding HGNC:31374 12719 614147 VALIDATED 1602167 C1QTNF9 C1q and tumor necrosis factor related protein 9 ENCODES a protein that exhibits hormone activity (inferred); FOUND IN collagen trimer (inferred); extracellular region (inferred); INTERACTS WITH copper(2+) sulfate; dibutyl phthalate (ortholog); trimellitic anhydride (ortholog) 13 13 13 q12.12 5946381 5959337 + 24883686 24896669 + 24309578 24322531 + 6480464 12477932;12975309;17207965;18787108 338872 P0C862 ABBA01007888;ABBA01007889;AL359736;AMYH02027705;AX525128;AY358145;BC040438;BI767787;CH471075;NM_178540 AAH40438;AAQ88512;ADQ33014;CAD57042;EAX08334;EAX08335;NP_848635;P0C862 Hs.362854 1697282 RH102138 AQL1;C1QTNF9A;CTRP9;MGC48915 OTTHUMP00000018123;OTTHUMP00000018124;OTTHUMP00000018125;complement C1q and tumor necrosis factor-related protein 9;complement C1q and tumor necrosis factor-related protein 9A;complement C1q tumor necrosis factor-related protein 9;complement C1q tumor necrosis factor-related protein 9A protein-coding ENSG00000240654 HGNC:28732 14659 614285 VALIDATED 1346889 C1RL complement component 1, r subcomponent-like ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN complement activation, classical pathway (inferred); innate immune response (inferred); proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH 1-nitropyrene; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 12 12 12 p13.31 8823225 8838082 - 7246000 7261869 - 7093405 7109273 - 6480464;8554872 12477932;12838346;14702039;15358180;15385675;16344560;16502470;19344414;19423540;20379614;20406964;20438785;22268729;22779921;8125298 51279 F5GWF3;F5H2Z5;F5H6S5;F5H7C8;H0YF87;H0YFJ9;H0YFL7;H0YGP8;Q9NZP8 ABBA01012193;ABBA01012194;ABBA01012195;AC018653;AC094008;AC233309;AF178985;AK024084;AK222802;AK314299;AMYH02025963;AMYH02025964;AW450562;BC062428;CH471116;DB113812;DR004214;HY062376;NM_001297640;NM_001297642;NM_001297643;NM_016546;XM_005253385;XM_005253386;XM_005253387;XM_006719084;XM_006719085 AAF44349;AAH62428;AAI56781;BAB14819;BAD96522;EAW88685;EAW88686;NP_001284569;NP_001284571;NP_001284572;NP_057630;Q9NZP8;XP_005253442;XP_005253443;XP_005253444;XP_006719147;XP_006719148 Hs.631730 5022578;5022588;5022651;5037552 D11S2921;D1S1423;D5S1597E;D8S2279 C1RL1;C1RLP;C1r-LP;CLSPa C1r-like protein;C1r-like serine protease analog protein;OTTHUMP00000238049;OTTHUMP00000238050;OTTHUMP00000238052;complement C1r subcomponent-like protein;complement C1r-like proteinase protein-coding ENSG00000139178 HGNC:21265 07093 608974 VALIDATED 6769130 C1RL-AS1 C1RL antisense RNA 1 12 12 12 p13.31 8837117 8850658 + 7260904 7274447 + 7108308 7121851 + 12975309;14702039 283314 ABBA01012194;ABBA01012195;ABBA01012196;AC018653;AC233309;AK091792;AL833364;AMYH02025963;AMYH02025964;AY358730;HG504460;HG504461;HG504462;NR_026947 AAQ89092 Hs.744212 1657512;1693914 D12S1953;G42647 MATL2963 APPROVED ncrna ENSG00000205885 HGNC:27461 PREDICTED 1319235 C1R complement component 1, r subcomponent ENCODES a protein that exhibits serine-type endopeptidase activity; INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); immune response (inferred); PARTICIPATES IN coagulation cascade pathway; complement system pathway; Staphylococcus aureus infection pathway; ASSOCIATED WITH Insulin Resistance; FOUND IN blood microparticle; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid 12 12 12 p13 8810415 8821122 - 7187513 7189412 - 7080209 7082108 - 1600551;1580863;6480464;6907045;7240710;8699517;8554872 17244723 10092586;10878362;11086101;11445589;11823416;12429092;12477932;1249422;12499050;12555245;12788922;12914573;1370572;14702039;14718574;1533159;15489334;16335952;17996945;20008834;20178990;20592021;20796027;20970424;21988832;23589288;23650384;2372546;2387866;2541966;2820791;2834284;3021205;3030286;3036070;6282262;6303394;737019;8125298;814163;8162045;8227070;8635594;8881771;9174342;9477945 715 D3DUT5;F5GWL0;F5GZR1;F5H1N6;F5H1V0;F5H2D0;F5H3A3;F5H3N3;F5H6Y3;F6T9X8;H0YFH3;P00736;R4GMN6 AB083037;ABBA01012193;ABBA01017671;AC094008;AC140077;AC154092;AC233309;AK024951;AK094009;AK222481;AK222491;AK291313;AK298445;AK303750;AMYH02025962;AMYH02025963;BC035220;CH471116;M14058;NM_001733;X04701 AAA51851;AAH35220;ACE87845;ACT64363;ADZ15339;BAC19850;BAD96201;BAD96211;BAF84002;BAG60662;BAG64722;CAA28407;EAW88687;EAW88688;NP_001724;P00736 Hs.524224 1656329;1690232;1743061;2218742;5016851;5019691;5091782 A009F01;C1R_1615;G32495;GDB:251487;RH17663;RH75712;RH80031 OTTHUMP00000238099;OTTHUMP00000238100;OTTHUMP00000238101;complement C1r subcomponent;complement component 1 subcomponent r protein-coding ENSG00000159403 HGNC:1246 01954 216950;613785 PROVISIONAL 8695014 C2-AS1 C2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 6 p21.3 31934474 31941724 - 8554872 20385819;21665990;22705344 102060414 ABBA01038098;ABBA01038099;AL645922;AL662849;AL844853;AMYH02013456;BX005143;BX100594;CR388219;CR759782;CR933857;NG_011730;NR_104191 Hs.571112 ncrna HGNC:49464 VALIDATED 1346750 C20orf113 chromosome 20 open reading frame 113 170486 AL034550 HGNC:16107 1353499 C2 complement component 2 Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009] 6 6 6 p21.3 33495068 33513211 + 31865562 31913449 + 31897785 31945674 + 1600582;1580863;6480464;6907045;7240710;7401250;7411731;7421516;7411694;7411716;7411713;7411693;7411695;7411692;7411691;7411720;7411735;7411727;8699517;8554872 16518403;17576744;18806293;19169232;20065024;22232432;22273503;22300950;22714898;23112567;23233260;6342123;6409476;6559061 10072631;10734221;1084023;10946278;10946292;11222683;11341920;12477932;12823772;12878586;1350302;14702039;15199963;1531292;15489334;1577763;162484;16335952;16670774;1701385;17482263;18069935;18174230;18493315;18515590;18541650;18806297;18936151;18987644;19015224;19117936;19180512;19197355;19237749;19259132;19302245;19336475;19344414;19399715;19423540;19430225;19556007;19661236;19696172;19851445;19913121;19948975;20157618;20205591;20378180;20381870;20385819;20385826;20406964;20417301;20438785;20523265;20628086;20679960;20801516;20888482;2091785;21105107;21665990;21764829;21881993;22566634;22610944;22705344;22869612;23060141;23455636;23535732;23577725;23620142;24453474;2493504;2582254;2949737;2997031;3315100;3546307;3643061;6019133;6149575;6199794;6555044;6922702;8120386;8125298;8175701;8299689;8326124;8621452;9453398;9670930;978135 717 A2ABG0;B3KTX9;B4DQI1;B4DV48;C9JYQ5;E9PDZ0;F2Z306;F2Z3N2;F8WCJ9;H0Y3H6;H0Y868;P06681;Q53HP3;Q5JP69;Q5ST52;Q8N6L6 AA740316;ABBA01038093;ABBA01038094;ABBA01038095;ABBA01038096;ABBA01038097;ABBA01038098;ABBA01038099;AF019413;AK096258;AK222537;AK222783;AK298311;AK298808;AK300892;AK300930;AK307930;AK312581;AL645922;AL662834;AL662849;AL671762;AL844853;AMYH02013456;AW515583;AY349611;BA000025;BC029781;BC043484;BX005143;BX537504;CH471081;CR388219;CR759782;CR759784;CR933857;DC349268;DC358441;DC362624;L09708;M15082;M15549;M86920;N63977;NG_011730;NM_000063;NM_001145903;NM_001178063;NM_001282457;NM_001282458;NM_001282459;X04481;X77331 AAA51854;AAA59624;AAA59649;AAB67975;AAB97607;AAH29781;AAH43484;AAQ15273;BAB63292;BAD96257;BAD96503;BAG35475;BAG53241;BAG60565;BAG60943;BAG62532;BAG62560;CAA28169;CAA54545;CAD97767;EAX03548;EAX03549;NP_000054;NP_001139375;NP_001171534;NP_001269386;NP_001269387;NP_001269388;P06681 Hs.408903 1657861;1658938;1797338;2106219;2106221;2189751;5022450 C2_3011;D10S275;D6S2896;D6S2973;N3_3_3;RH18075;WI-8686 ARMD14;CO2;DKFZp779M0311 C3/C5 convertase;OTTHUMP00000029277;OTTHUMP00000174692;OTTHUMP00000174694;OTTHUMP00000174695;OTTHUMP00000215942;OTTHUMP00000215945;complement C2;complement component C2 APPROVED protein-coding ENSG00000166278 HGNC:1248 08939 217000;603075;613927;615489 REVIEWED 1605130 C1S complement component 1, s subcomponent This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009] 12 12 12 p13 8790867 8801223 + 7167819 7178336 + 7060676 7071032 + 6480464;6907045;7240710;8699517;8554872 10092586;10630213;10775260;10878362;11337467;11390518;11527969;12477932;1249422;12645945;12788922;14674770;14702039;1533159;15489334;16169853;16335952;16344560;18062908;1854725;19344414;19423540;20008834;2007122;20406964;20438785;20467438;20592021;21103663;2141278;22855709;23592783;23650384;2372546;23750785;2387866;23989031;2459702;24695853;2537870;2553984;2831944;2834284;3007145;3500856;3521730;3756141;6362661;6604523;7779774;814163;9477945;9794427;9856483;9882449;9973493 716 B5MCV4;C9IZP8;C9JY52;F5H7T4;F8WCZ6;H0Y5D1;P09871 AB009076;ABBA01017671;AC006512;AK025309;AK126711;AK290295;AM886411;AMYH02025962;AU100335;BC056903;CD358820;CH471116;DB257339;DB265957;HC250949;HC311138;J04080;M18767;NG_011694;NM_001734;NM_201442;XM_005253760 AAA51852;AAA51853;AAH56903;BAA86864;BAF82984;CBJ05772;CBJ21224;EAW88689;EAW88690;NP_001725;NP_958850;P09871;XP_005253817 Hs.458355 1725819;1741637;1797336;1847745;2117999;2175397;5022651 C1S_1475;D11S2921;D12S2020;G61997;GDB:181601;RH17587;STS-T93284 FLJ44757 C1 esterase;OTTHUMP00000197019;OTTHUMP00000197021;OTTHUMP00000197022;OTTHUMP00000239854;basic proline-rich peptide IB-1;complement C1s subcomponent;complement component 1 subcomponent s APPROVED protein-coding ENSG00000182326 HGNC:1247 00397 120580;613783 REVIEWED 1343891 C20orf131 chromosome 20 open reading frame 131 140698 AL136172 HGNC:16124 1349741 C20orf109 chromosome 20 open reading frame 109 140829 AL118499 dJ1168M15.1 hypothetical protein LOC140829;uncharacterized protein LOC140829 protein-coding HGNC:16103 1345661 C20orf153 chromosome 20 open reading frame 153 170489 AL356755 HGNC:16146 1348206 C20orf144 chromosome 20 open reading frame 144 INTERACTS WITH cadmium atom 20 20 20 q11.22 29003152 29004752 + 32250092 32251721 + 33662286 33663915 + 6480464 11780052;12477932;15489334 128864 Q9BQM9 ABBA01019224;AL121906;AMYH02036957;BC032818;BX378327;CH471077;DQ080434;NM_080825 AAH32818;AAZ39562;EAW76310;NP_543015;Q9BQM9 Hs.324104 2160839 AF021113 bclt;dJ63M2.6 OTTHUMP00000030658;bcl-2-like protein from testis;hypothetical protein LOC128864;uncharacterized protein C20orf144 protein-coding ENSG00000149609 HGNC:16137 12749 VALIDATED 1344242 C20orf159 chromosome 20 open reading frame 159 q11.2 140705 AL031658 CAB88102 dJ310O13.4 protein-coding HGNC:16152 1347173 C20orf141 chromosome 20 open reading frame 141 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred) 20 20 20 p13 2860175 2860994 + 2795633 2796476 + 2814987 2815830 + 8554872 11780052;12477932;15489334;23218918 128653 B2R5K4;Q9NUB4 ABBA01053798;AK312218;AL035460;AL713708;AMYH02036587;BC014591;BX094374;CH471133;HC006826;HC044737;NM_001256538;NM_080739 AAH14591;BAG35151;CAD28505;CBH19219;CBH30698;EAX10574;NP_001243467;NP_542777;Q9NUB4 Hs.352187 1772400 G09802 MGC26144;TMEM239;dJ860F19.4 OTTHUMP00000030040;hypothetical protein LOC128653;uncharacterized protein C20orf141 protein-coding ENSG00000258713 HGNC:16134 12748 VALIDATED 1349686 C20orf157 chromosome 20 open reading frame 157 140896 AL031686 CAB42849;Q6KAL7 dJ981L23.3 protein-coding HGNC:16150 1602964 C20orf166-AS1 C20orf166 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 20 20 20 q13.33 57850607 57859104 - 61141438 61148768 - 62543070 62551561 - 8554872 12477932;14702039;16344560;23535732 253868 Q96NR2 ABBA01012316;AC161429;AK054875;AK056546;AL449263;AL832097;AMYH02037435;BC093856;BC111938;CH471077;DA722400;HG511518;HG511519;HG511520;NR_033263 AAH93856;AAI11939;BAB70817;BAG51743;EAW75356;EAW75357;EAW75358;EAW75359;Q96NR2 Hs.337024 2220606 UniSTS:485778 C20orf200;DKFZp313D1938;FLJ30313;MGC138143;NCRNA00335 APPROVED ncrna HGNC:26393 08083 VALIDATED 1345172 C20orf176 chromosome 20 open reading frame 176 q13.13 140879 AL133230 CAC00619;Q9NQQ3 dJ530I15.3 protein-coding HGNC:16169 1347805 C20orf158 chromosome 20 open reading frame 158 85362 NM_152302 HGNC:16151 1348127 C20orf181 chromosome 20 open reading frame 181 140843 Q92884 AL158091;U63828 AAB06956;CAC17643;Q92884;Q9H1S0 Hs.555583 dJ824A14.1 protein-coding HGNC:16174 1343604 C20orf187 chromosome 20 open reading frame 187 20 p12.2 10956401 10958016 + 11181995;11780052 728434 Q9UGB4 AL050322;BX281604;CH471133;XM_001131465 CAB65795;EAX10337;Q9UGB4;XP_001131465 Hs.570365 dJ727I10.1 hCG2045828;putative uncharacterized protein C20orf187 protein-coding HGNC:16180 1601971 C20orf195 chromosome 20 open reading frame 195 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; diazinon 20 20 20 q13.33 58864733 58868396 + 62184373 62188061 + 63553020 63556708 + 6480464;8554872 11780052;12477932;15489334;16189514;23535732 79025 Q9BVV2 ABBA01021403;AK125168;AL121829;AMYH02037464;BC000912;CH471077;NM_024059;XM_005260231;XM_005260232 AAH00912;EAW75258;NP_076964;Q9BVV2;XP_005260288;XP_005260289 Hs.197755 MGC5356 OTTHUMP00000031566;hypothetical protein LOC79025;uncharacterized protein C20orf195 protein-coding ENSG00000125531 HGNC:28764 14682 PREDICTED 1351674 C20orf173 chromosome 20 open reading frame 173 20 20 20 q11.22 30857159 30866071 - 34108569 34117481 - 35520741 35529656 - 11181995;11780052;12477932;14702039;15489334;16344560 140873 Q4VXR9;Q4VXS0;Q96LM9 ABBA01019159;AK058089;AK310337;AL121586;AMYH02037001;BC112060;BC112062;CH471077;DB057743;DV080387;DW009696;FO393401;NM_001145350;NR_026933;XM_006723710;XM_006723711;XM_006723712 AAI12061;AAI12063;BAB71659;CAO03347;EAW76201;EAW76202;EAW76203;NP_001138822;Q96LM9;XP_006723773;XP_006723774;XP_006723775 Hs.158680 1697156;1798522;1800388;1801014;1801056;1812004;1819962;1974376;1974378;1974380;1974382;1974384;1974386;1974388;1974390;1974392;1974394;1974396;1974398;1974400;1974402;1974404;1974406;1974408;1974410;1974412;1974414;1974416;1974418;1974420;1974422;1974424;1974426;1974428;1974430;1974432;1974434;1974436;1974438;1974440;1974442;1974444;1974446;1974448;1974450;1974452;1974454;1974456;1974458;1974460;1974462;1974464;2215386;2215388;2215390;2215392;2215394;2215396 ECD00099;ECD01054;ECD01373;ECD01396;ECD07007;ECD11052;REN58074;REN58075;REN58076;REN58077;REN58078;REN58079;REN58080;REN58081;REN58082;REN58083;REN58084;REN58085;REN58086;REN58087;REN58088;REN58089;REN58090;REN58091;REN58092;REN58093;REN58094;REN58095;REN58096;REN58097;REN58098;REN58099;REN58100;REN58101;REN58102;REN58103;REN58104;REN58105;REN58106;REN58107;REN58108;REN58109;REN58110;REN58111;REN58112;REN58113;REN58114;REN58115;REN58116;REN58117;REN58118;RH102065;stSG636684;stSG636685;stSG636686;stSG636687;stSG636688;stSG636689 FLJ25360;MGC138265;MGC138267;dJ477O4.4 OTTHUMP00000196097;hypothetical protein LOC140873;uncharacterized protein C20orf173 protein-coding ENSG00000125975 HGNC:16166 12756 VALIDATED 1602798 C20orf202 chromosome 20 open reading frame 202 20 20 20 p13 1280428 1285247 + 1184098 1188918 + 1203454 1208274 + 12477932;14702039 400831 A1L168 ABBA01053766;AK092524;AL031665;AMYH02036564;BC127730;BC127731;BC141955;BC141956;BC150532;CR746175;NM_001009612 A1L168;AAI27731;AAI27732;NP_001009612 Hs.148503 FLJ35205 OTTHUMP00000159741;hypothetical protein LOC400831;uncharacterized protein C20orf202 APPROVED protein-coding ENSG00000215595 HGNC:37254 17387 VALIDATED 1349038 C20orf194 chromosome 20 open reading frame 194 This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011] 20 20 20 p13 3291918 3450250 - 3229948 3388587 - 3249302 3407662 - 6480464;8554872 11181995;11549316;11780052;12477932;14702039;15146197;15489334;20379614;21683323;21703177;22939624;24250222 25943 Q0IIP3;Q5TEA3 ABBA01053818;ABBA01053819;ABBA01053820;ABBA01053821;ABBA01053822;ABBA01053823;AI214589;AK023919;AK226100;AK303375;AK310540;AL109976;AL110249;AL117334;AMYH02036596;AMYH02036597;AU311821;BC041916;BC064352;BC080528;BC106086;BC122529;BX424937;CH471133;CN285135;DB504338;KF510464;NG_031974;NM_001009984;XM_005260684;XM_005260686;XM_005260687;XM_006723556;XM_006723557;XR_244215 AAH64352;AAH80528;AAI06087;AAI22530;BAG64431;CAB53697;EAX10533;EAX10534;NP_001009984;Q5TEA3;XP_005260741;XP_005260743;XP_005260744;XP_006723619;XP_006723620 Hs.516853 1336545;1643856;1662340;1668508;1669793;1679824;1722301;1759153;1784366;2149207;2165682;2171558 A002R43;D20S193;D20S596E;G06884;G60065;IB607;RH18304;RH98248;SHGC-144481;SHGC-151132;WI-18442;Z94365 DKFZp434N061;MGC117480;MGC141683 OTTHUMP00000030101;hypothetical protein LOC25943;uncharacterized protein C20orf194 APPROVED protein-coding ENSG00000088854 HGNC:17721 614146 VALIDATED 1606148 C20orf196 chromosome 20 open reading frame 196 INTERACTS WITH benzo[a]pyrene; calcitriol; hydrogen peroxide 20 20 20 p12.3 5802650 5916186 + 5731043 5844558 + 5750397 5863912 + 6480464 12477932;20360068;21130836;21145461;23455924 149840 Q5TGA6;Q5TGB0;Q8IYI0 ABBA01053889;ABBA01053890;ABBA01053891;ABBA01053892;AK057796;AK292708;AL035249;AL390028;AMYH02036648;AMYH02036649;AMYH02036650;AMYH02036651;BC035800;CH471133;NM_152504;XM_006723549 AAH35800;BAB71578;BAF85397;EAX10411;EAX10412;NP_689717;Q8IYI0;XP_006723612 Hs.529340 1650829;1752825;1778498;1846759;2119170;2124434;2162797;2170819;2183822;2186302 CHLC.GGAA9H10;D20S1034;D20S805;G09683;RH36229;RH36491;SHGC-106692;SHGC-14511;Z94356;Z94590 FLJ25067;RP4-784N16.1 OTTHUMP00000030204;OTTHUMP00000030207;hypothetical protein LOC149840;uncharacterized protein C20orf196 protein-coding ENSG00000171984 HGNC:26318 08681 PREDICTED 1606918 C20orf197 chromosome 20 open reading frame 197 ASSOCIATED WITH Melanoma (inferred) 20 20 20 q13.33 55371626 55388652 + 58630980 58648008 + 60055925 60072953 + 8554872 11780052;12477932;12975309;14702039;15489334 284756 Q6UX30;Q8N268 ABBA01005955;AK091179;AL132822;AMYH02037388;AY358539;BC101349;BC101350;BC101351;CH471077;LN608763;NM_173644 AAI01350;AAI01351;AAI01352;AAQ88903;BAC03602;EAW75416;NP_775915;Q8N268 Hs.335319 FLJ33860;MGC120496;RP5-1017F8.1 OTTHUMP00000031440;hypothetical protein LOC284756;uncharacterized protein C20orf197 protein-coding ENSG00000176659 HGNC:26601 08749 PREDICTED 1348541 C20orf57 chromosome 20 open reading frame 57 83747 AK000652;AL160175 CAI12818;Q5QP66 Hs.434108 FLJ20645;bA243J16.5 protein-coding HGNC:16190 1323352 C20orf27 chromosome 20 open reading frame 27 INTERACTS WITH calcitriol; cobalt dichloride; copper atom 20 20 20 p13 3796043 3810314 - 3734146 3749035 - 3753499 3768388 - 6480464 11780052;12477932;12665801;14702039;15489334;16189514;16344560;17549794;19913121;20628086;20811636;21139048;24654937;24816145;8125298 54976 H7BYU9;Q9GZN8 ABBA01053828;ABBA01053829;AK000557;AK024220;AK097645;AK124341;AK125202;AK225109;AK290955;AK308520;AL109804;AMYH02036603;AMYH02036604;AX883705;BC010873;BC012196;BC024036;BC069204;BF978883;BG474804;CH471133;DB317576;NM_001039140;NM_001258429;NM_001258430;NR_047675 AAH12196;AAH24036;ADZ15963;BAA91252;BAB14854;BAF83644;BAG53501;CAE92076;EAX10508;EAX10510;EAX10511;NP_001034229;NP_001245358;NP_001245359;Q9GZN8 Hs.274422 1784344;2128238 SHGC-106101;WI-18677 FLJ20550 OTTHUMP00000030113;OTTHUMP00000030114;OTTHUMP00000030116;OTTHUMP00000030117;UPF0687 protein C20orf27;hypothetical protein LOC54976 protein-coding ENSG00000101220 HGNC:15873 16648 VALIDATED 1317125 C20orf24 chromosome 20 open reading frame 24 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; cobalt dichloride; hydrogen peroxide 20 20 20 q11.23 31941205 31948034 + 35234137 35240960 + 36605734 36612557 + 6480464;8554872 11780052;12477932;14759258;15178406;15489334;17353931;20877624;21890473;21906983;21963094;22190034;23000965;24250222;8824393 55969 Q9BUV8 ABBA01006582;AF112213;AF274936;AF274948;AL050318;AMYH02037026;BC001871;BC004446;BG395753;BI223439;BQ086248;BU174619;BU189639;BU194101;BU848918;CD370956;CH471077;NM_001199534;NM_018840;NM_199483;NR_026562;S83364 AAB50849;AAF17201;AAH01871;AAH04446;AAK07515;AAK07525;EAW76120;EAW76121;EAW76122;EAW76123;EAW76124;EAW76125;NP_001186463;NP_061328;NP_955777;Q9BUV8 Hs.584985 1662759;1671904;2151711 D20S1010;HUM000AA21;WI-19258 PNAS-11;RIP5 OTTHUMP00000030851;OTTHUMP00000030853;OTTHUMP00000030854;RAB5-interacting protein;uncharacterized protein C20orf24 protein-coding ENSG00000101084 HGNC:15870 12761 VALIDATED 2303842 C20orf203 chromosome 20 open reading frame 203 FOUND IN cytoplasm (inferred) 20 20 20 q11.21 27975409 27995749 - 31219427 31261743 - 32631625 32673941 - 12477932;14702039;16344560;20376170;8889548 284805 Q8NBC4 ABBA01019260;AK091025;AMYH02036933;BC105014;BC105042;BM662904;BU736724;CH471077;DA522519;DB134998;DB160076;FO393400;GU931819;GU931820;HG511304;NM_182584;XM_005260403 ADF32072;ADF32073;BAC03569;EAW76366;NP_872390;Q8NBC4;XP_005260460 Hs.353262 1667528;5493305 UniSTS:485666;WI-14823 FLJ33706;RP11-503P21.2 alugen;uncharacterized protein C20orf203 APPROVED protein-coding HGNC:26592 08164 VALIDATED 1348821 C20orf62 chromosome 20 open reading frame 62 INTERACTS WITH cadmium atom 20 20 q13.12 42523817 42527398 - 44461763 44465344 - 6480464 11780052;12477932;15489334 140834 Q4KN68 ABBA01052642;AL132772;AMYH02037135;BC030259;CH471077;NM_001287807 EAW75920;NP_001274736;Q4KN68 Hs.357589 dJ1013A22.3 uncharacterized protein C20orf62 protein-coding ENSG00000168746 HGNC:16195 18555 VALIDATED 1347902 C20orf66 chromosome 20 open reading frame 66 q13.32 343629 AL121919;AL136532;CH471077;XM_001716673;XM_001723936;XM_293121 EAW75440;P0C7V3;XP_001716725;XP_001723988;XP_293121 bA379F14.2 protein-coding HGNC:16199 1352255 C20orf89 chromosome 20 open reading frame 89 140882 AL157414 HGNC:16220 1347015 C20orf78 chromosome 20 open reading frame 78 ASSOCIATED WITH Melanoma (inferred) 20 20 20 p11.23 18864647 18885071 - 18790372 18810839 - 18809728 18830195 - 8554872 11780052 100128496 Q9BR46 ABBA01054056;AL035563;AMYH02036785;AW118618;BX112808;CH471133;CR738909;LN608747;NM_001242671 EAX10223;NP_001229600;Q9BR46 Hs.664484 1688829;1697104;1703310 RH102036;RH92791;SHGC-68546 dJ1068E13.1 putative uncharacterized protein C20orf78;uncharacterized protein LOC100128496 protein-coding ENSG00000149443 HGNC:16210 VALIDATED 1343671 C20orf80 chromosome 20 open reading frame 80 14702039 91222 H0YEZ2;Q96ND1;Q9BZ00;Q9BZ01 AK055615;AL441988 BAB70972;CAC27358;Q96ND1;Q9BZ00;Q9BZ01 Hs.653099 bA348I14.2 protein-coding HGNC:15792 1342765 C21orf112 chromosome 21 open reading frame 112 378824 BF694301 Hs.125113 PRED71 protein-coding HGNC:19724 1346131 C20orf96 chromosome 20 open reading frame 96 20 20 20 p13 346365 366233 - 251504 271419 - 270863 290778 - 11780052;12477932;14702039;16344560;17207965;21906983 140680 B7Z971;B7ZML9;F5GZA9;Q5JYC3;Q9NUD7 AA921838;ABBA01053744;ABBA01053745;AK091924;AK097394;AK302223;AK304526;AL034548;AMYH02036544;AMYH02036545;AMYH02036546;BC051762;BC134417;BC137450;BC144648;BC144649;BX640715;CH471133;DB226405;DB320878;EL734555;NM_080571;NM_153269;XM_005260666;XM_006723543 AAI34418;AAI37451;AAI44650;BAC03772;BAC05033;BAH13653;BAH14207;CAE45834;EAX10681;EAX10682;NP_542138;NP_695001;Q9NUD7;XP_005260723;XP_006723606 Hs.348112 FLJ40075;dJ1103G7.2 OTTHUMP00000029908;OTTHUMP00000029909;hypothetical protein LOC140680;uncharacterized protein C20orf96 protein-coding ENSG00000196476 HGNC:16227 12790 VALIDATED 1342910 C20orf85 chromosome 20 open reading frame 85 20 20 20 q13.32 53466441 53476642 + 56725983 56736186 + 58150927 58161130 + 11780052;12477932;15489334;17304513;23251661;8889548 128602 Q9H1P6 ABBA01052938;AL354776;AMYH02037360;BC035405;BU676204;BX093883;CH471077;NM_178456 AAH35405;EAW75503;NP_848551;Q9H1P6 Hs.43977 LLC1;bA196N14.1 OTTHUMP00000031384;hypothetical protein LOC128602;low in lung cancer 1;uncharacterized protein C20orf85 protein-coding ENSG00000124237 HGNC:16216 12787 VALIDATED 1349466 C21orf114 chromosome 21 open reading frame 114 378826 AF304443 HGNC:19726 1345871 C21orf113 chromosome 21 open reading frame 113 378825 P0C852 AI015287 HGNC:19725 1352954 C21orf115 chromosome 21 open reading frame 115 378827 HGNC:19746 1343792 C21orf105 chromosome 21 open reading frame 105 INVOLVED IN syncytium formation; FOUND IN extracellular space; plasma membrane; INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; methylmercury chloride 6480464 90625 M5A8F1 XM_033004 2170961;2170963 A005Z22;G20624 HGNC:17216 1353985 C21orf116 chromosome 21 open reading frame 116 378820 AF130090 AAG35516;Q9H386 PRED82 protein-coding HGNC:17285 1342696 C21orf118 chromosome 21 open reading frame 118 378829 AF304442 HGNC:23127 7406701 C21orf140 chromosome 21 open reading frame 140 21 21 35772204 35773947 - 34400112 34401072 - 10830953;15489334 101928147 B9A014 AA860112;AP000322;NM_001282537 B9A014;NP_001269466 Hs.303798 uncharacterized protein C21orf140;uncharacterized protein ENSP00000386791 protein-coding HGNC:39602 VALIDATED 1347663 C21orf124 chromosome 21 open reading frame 124 85006 BC021550;NM_032920 HGNC:19728 1347446 C21orf12 chromosome 21 open reading frame 12 54096 HGNC:1254 1343597 C21orf15 chromosome 21 open reading frame 15 21 21 21 q11 394568 399795 + 15215454 15220685 - 13843133 13848364 - 10830953;11707072 54094 ABBA01057063;AC245051;AL109748;AY040090;BX648100;CA415229;NR_026755 AAK74137 Hs.580910 5112333 RH103540 ncrna ENSG00000228314 HGNC:1257 PREDICTED 1348175 C21orf19 chromosome 21 open reading frame 19 21 21 q22.13 22701316 22703084 + 37502452 37504216 + 10830953;11707072 54092 AP000689;AP001725;NG_000928 pseudo HGNC:1259 1346202 C21orf32 chromosome 21 open reading frame 32 q22.3 10830953;15782160 54081 AP001753 BAA95555;P57056 putative gene with similarities to yeast gene YDL038c;putative uncharacterized protein C21orf32 protein-coding HGNC:1272 1345634 C21orf36 chromosome 21 open reading frame 36 54077 HGNC:1276 1353237 C21orf47 chromosome 21 open reading frame 47 q22.11 10830953 54068 AI282569 protein-coding HGNC:1288 1320014 C21orf2 chromosome 21 open reading frame 2 Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012] 21 21 21 q22.3 30854055 30864461 - 45748827 45759285 - 44328944 44339402 - 6480464 10830953;12477932;12624744;15068244;15489334;16341674;17207965;21906983;24250222;9325172;9465297 755 O43822 AB209578;ABBA01074163;AMYH02037910;AMYH02037911;AP001062;AP001754;BC031300;BC072012;BM761336;CH471079;NG_032952;NM_001271440;NM_001271441;NM_001271442;NM_004928;U84569;U84570;XM_006724051;XM_006724052;XM_006724053;Y11392;Z93322 AAB46590;AAB46591;AAH31300;AAH72012;ADQ32159;BAA95562;BAD92815;CAA72202;CAB07532;EAX09431;EAX09432;EAX09433;EAX09434;EAX09435;NP_001258369;NP_001258370;NP_001258371;NP_004919;O43822;XP_006724114;XP_006724115;XP_006724116 Hs.517331 1644669;1681712;1730873;1773776;1790651;1793954;2144290 A009B16;D21S400;PMC310701P4;RH92553;SHGC-57478;STS-AA022689;STS_CEB281 A2;LRRC76;YF5;YF5/A2 OTTHUMP00000109511;OTTHUMP00000109512;OTTHUMP00000109513;hypothetical protein LOC755;leucine rich repeat containing 76;nuclear encoded mitochondrial protein C21orf2;nuclear encoded mitochondrial protein, cDNA A2-YF5;uncharacterized protein C21orf2 APPROVED protein-coding ENSG00000160226 HGNC:1260 603191 REVIEWED 1343023 C21orf33 chromosome 21 open reading frame 33 This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 21 21 21 q22.3 30659152 30671262 + 45553476 45622835 + 44133612 44202944 + 6480464 10830953;12477932;1286669;15082224;15342556;15489334;16169070;18587394;20301552;20877624;21102463;21139048;21297633;21832049;21890473;2290832;23128233;24654937;24816145;8753807;8889549;8975701;9150728;9179495;9205129 8209 F2Z2Q0;H7BYH1;H7C1F6;H7C2G3;P30042 AA045757;AB001517;AMYH02037907;AP001055;AP001056;AP001057;AP001753;BC002370;BC003587;BP283346;CH471079;D86060;D86061;D86062;KC877912;KC877914;KC877915;KC877918;KC877919;KC877922;KF510570;NG_021281;NM_004649;NM_198155;U53003;U53007;XM_005261184;XM_005261185;XM_005261186;XM_006724055;XM_006724056;Y07572 AAC50937;AAC50938;AAH02370;AAH03587;ADZ15894;BAA12984;BAA12985;BAA20888;BAA21138;BAA21139;BAA95554;CAA68857;EAX09454;EAX09455;EAX09456;NP_004640;NP_937798;P30042;XP_005261241;XP_005261242;XP_005261243;XP_006724118;XP_006724119 Hs.413482 1646362;1682954;1793950;2128317;2131386;2132587;2160690 D21S1851;PMC310701P2;RH68310;RH75349;SHGC-64268;SHGC-87686;SHGC-87690 D21S2048E;ES1;GT335;HES1;KNP-I;KNPH;KNPI ES1 protein homolog, mitochondrial;Keio novel protein I;OTTHUMP00000109519;OTTHUMP00000109520;OTTHUMP00000109521;OTTHUMP00000109522;OTTHUMP00000174938;human HES1 protein, homolog to E.coli and zebrafish ES1 protein APPROVED protein-coding ENSG00000160221 HGNC:1273 09044 601659 REVIEWED 1346218 C21orf53 chromosome 21 open reading frame 53 54063 HGNC:1295 1347138 C21orf40 chromosome 21 open reading frame 40 54074 HGNC:1281 1351432 C21orf58 chromosome 21 open reading frame 58 INTERACTS WITH calcitriol; copper atom; copper(0) 21 21 21 q22.3 32834819 32857559 - 47720344 47743813 - 46300430 46323899 - 6480464 10830953;11707072;12477932;14702039;16344560;18624398;24250222;7757816;8889548 54058 C9JH41;H0YCB6;H7C1T9;P58505;Q0VAL8;Q8N7N9 ABBA01021762;ABBA01021763;AK056387;AK096641;AK098098;AMYH02037955;AP000471;AY039243;AY039244;BC026042;BC028934;BC044223;BC067876;BC098408;BC121007;BC121008;BM475055;CB305953;CH471079;DA920594;NM_001286462;NM_001286463;NM_001286476;NM_001286477;NM_058180;XM_005261148;XM_005261149;XM_006724018;XM_006724019;XM_006724020;XR_244317 AAI21008;AAI21009;AAK72408;AAK72409;BAC05232;BAG51693;EAX09282;EAX09283;EAX09284;EAX09285;EAX09286;EAX09287;NP_001273391;NP_001273392;NP_001273405;NP_001273406;NP_478060;P58505;XP_005261205;XP_005261206;XP_006724081;XP_006724082;XP_006724083 Hs.236572;Hs.744525 1735014;5016781;5022578 D1S1423;D21S1714E;SHGC-67307 OTTHUMP00000115789;OTTHUMP00000115793;OTTHUMP00000115795;hypothetical protein LOC54058;uncharacterized protein C21orf58 protein-coding ENSG00000160298 HGNC:1300 10755 VALIDATED 1347551 C21orf64 chromosome 21 open reading frame 64 59270 HGNC:13560 1342876 C21orf69 chromosome 21 open reading frame 69 q22.3 11707072;12477932;15489334;16780588 84537 AL844908;AY035381;BC101235;BC101236;BC101237;BC101238;NM_058189 AAI01236;AAI01237;AAI01238;AAI01239;AAK60445;NP_478069;P58556;Q495D5 Hs.534504 MGC120186;MGC120187;MGC120189;PRED54 protein-coding HGNC:15709 10763 1347089 C21orf62-AS1 C21orf62 antisense RNA 1 21 21 21 q22.11 19328068 19353675 + 34144411 34170017 + 32772100 32797707 + 10830953;12477932;14702039;16344560;20639394;7782076 54067 Q17RA5 ABBA01057320;ABBA01057321;AK096601;AMYH02037725;AP000280;BC034794;BC117397;BC117399;CH471079;DA321673;DA776905;KF459715;KF511381;LN608867;LN608871;LN608872;LN608873;NR_024622;NR_024623 EAX09855;Q17RA5 Hs.54725 1800968;1804190;1804390;1804552;1806864;1809768;1814340;1820272;1826312;1826678;1827304;1827390;1827464;1832798;1834974;1836520;1840318;1858580;2022812;2022814;2022816;2022818;2022820;2022822;2022824;2022826;2022828;2022830;2022832;2022834;2022836;2022838;2022840;2022842;2022844;2022846;2022848;2022850;2022852;2022854;2022856;2022858;2022860;2022862;2022864;2022866;2022868;2022870;2022872;2022874;2022876;2022878;2022880;2022882;2022884;2022886;2022888;2022890;2022892;2022894;2022896;2022898;2022900;2022902;2022904;2022906;2022908;2022910;2022912;2022914;2022916;2022918;2022920;2022922;2022924;2022926;2022928;2022930;2022932;2022934;2022936;2022938;2022940;2022942;2022944;2022946;2022948;2022950;2022952;2022954;2022956;2022958;2022960;2022962;2022964;2022966;2022968;2022970;2022972;2022974;2022976;2022978;2022980;2022982;2022984;2022986;2022988;2022990;2022992;2022994;2022996;2022998;2023000;2023002;2023004;2023006;2023008;2023010;2023012;2023014;2023016;2023018;2023020;2023022;2023024;2023026;2023028;2023030;2023032;2023034;2023036;2023038;2023040;2023042;2023044;2023046;2023048;2023050;2023052;2100296;2100298;2100300;2100302;2100304;2100306;2100308;2100310;2100312;2100314;2100316;2100318;2100326;2100328;2100330;2100332;2112684;5109281 D1S1425;D3S4402;ECD01349;ECD03015;ECD03119;ECD03205;ECD04397;ECD05876;ECD08199;ECD11210;ECD14269;ECD14453;ECD14767;ECD14811;ECD14848;ECD17540;ECD18638;ECD19423;ECD21344;ECD24491;REN82404;REN82405;REN82406;REN82407;REN82408;REN82409;REN82410;REN82411;REN82412;REN82413;REN82414;REN82415;REN82416;REN82417;REN82418;REN82419;REN82420;REN82421;REN82422;REN82423;REN82424;REN82425;REN82426;REN82427;REN82428;REN82429;REN82430;REN82431;REN82432;REN82433;REN82434;REN82435;REN82436;REN82437;REN82438;REN82439;REN82440;REN82441;REN82442;REN82443;REN82444;REN82445;REN82446;REN82447;REN82448;REN82449;REN82450;REN82451;REN82452;REN82453;REN82454;REN82455;REN82456;REN82457;REN82458;REN82459;REN82460;REN82461;REN82462;REN82463;REN82464;REN82465;REN82466;REN82467;REN82468;REN82469;REN82470;REN82471;REN82472;REN82473;REN82474;REN82475;REN82476;REN82477;REN82478;REN82479;REN82480;REN82481;REN82482;REN82483;REN82484;REN82485;REN82486;REN82487;REN82488;REN82489;REN82490;REN82491;REN82492;REN82493;REN82494;REN82495;REN82496;REN82497;REN82498;REN82499;REN82500;REN82501;REN82502;REN82503;REN82504;REN82505;REN82506;REN82507;REN82508;REN82509;REN82510;REN82511;REN82512;REN82513;REN82514;REN82515;REN82516;REN82517;REN82518;REN82519;REN82520;REN82521;REN82522;REN82523;REN82524;stSG606659;stSG606660;stSG606661;stSG606662;stSG606663;stSG606664;stSG606665;stSG606666;stSG606667;stSG606668;stSG606669;stSG606670;stSG606674;stSG606675;stSG606676;stSG606677 APPROVED ncrna HGNC:1290 10750 VALIDATED 1315861 C21orf59 chromosome 21 open reading frame 59 This gene a protein plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013] 21 21 21 q22.1 19157614 19168548 - 33973977 33985174 - 32601674 32612608 - 6480464;8699517;7240710;8554872 12477932;14702039;15489334;15592455;16780588;17207965;17370265;17567994;19471022;21139048;21832049;21900206;21906983;21963094;23503679;23824909;24094744;8125298 56683 C9J818;C9JX57;D3DSE6;H7C2R6;H7C3D9;P57076;Q9NX33 ABBA01057320;AF282851;AK000474;AK055328;AK094456;AK097566;AK098577;AK223318;AK225697;AK300970;AMYH02037725;AP000275;BC000709;CH471079;FJ649644;KF457218;NG_033839;NM_021254;NR_036552 AAG00496;AAH00709;ACX50615;ADQ31713;BAA91189;BAB70903;BAC04359;BAD97038;BAG62593;EAX09865;EAX09866;EAX09867;EAX09868;NP_067077;P57076 Hs.5811 1666736;1776708;1778530;1808598;1809682;1810472;1810474;1811526;1814042;1814338;1816536;1829542;1830474;1835940;1843966;2021408;2021410;2021412;2021414;2021416;2021418;2021420;2021422;2021424;2021426;2021428;2021430;2021432;2021434;2021436;2021438;2021440;2021442;2021444;2021446;2021448;2021450;2021452;2021454;2021456;2021458;2021460;2021462;2021464;2021466;2021468;2021470;2021472;2021474;2021476;2021478;2021480;2021482;2021484;2021486;2021488;2021490;2021492;2021494;2021496;2021498;2021500;2021502;2021504;2021506;2021508;2021510;2021512;2021514;2021516;2021518;2021520;2021522;2100040;2100042;2100044;2100046;2100048;2100050;2100052;2100054;2100056;2100058;2177626;2184240;2185229 D21S1860;ECD05281;ECD05833;ECD06229;ECD06230;ECD06763;ECD08048;ECD08198;ECD09310;ECD15902;ECD16371;ECD19131;ECD23195;REN81693;REN81694;REN81695;REN81696;REN81697;REN81698;REN81699;REN81700;REN81701;REN81702;REN81703;REN81704;REN81705;REN81706;REN81707;REN81708;REN81709;REN81710;REN81711;REN81712;REN81713;REN81714;REN81715;REN81716;REN81717;REN81718;REN81719;REN81720;REN81721;REN81722;REN81723;REN81724;REN81725;REN81726;REN81727;REN81728;REN81729;REN81730;REN81731;REN81732;REN81733;REN81734;REN81735;REN81736;REN81737;REN81738;REN81739;REN81740;REN81741;REN81742;REN81743;REN81744;REN81745;REN81746;REN81747;REN81748;REN81749;REN81750;SHGC-23990;SHGC-52132;SHGC-87601;SHGC-87602;SHGC-87603;stSG606525;stSG606526;stSG606527;stSG606528;stSG606529;stSG606530;stSG606531;stSG606532;stSG606533;stSG606534 C21orf48;CILD26;FBB18;FLJ20467;FLJ37137;FLJ40247 OTTHUMP00000067400;OTTHUMP00000067401;OTTHUMP00000107731;OTTHUMP00000174371;UPF0769 protein C21orf59;hypothetical protein LOC56683;prostate cancer upregulated protein 1;uncharacterized protein C21orf59 protein-coding ENSG00000159079 HGNC:1301 10756 615494;615500 REVIEWED 1354052 C21orf79 chromosome 21 open reading frame 79 282570 HGNC:16340 1343736 C21orf62 chromosome 21 open reading frame 62 INTERACTS WITH cadmium dichloride (ortholog) 21 21 21 q22.11 19346641 19369711 - 34162984 34186053 - 32790673 32813743 - 6480464 10773462;12036298;12477932;15146197;15342556;17567994;20494980;20639394 56245 H7BYF8;Q9NYP8 ABBA01057320;ABBA01057321;AC203640;AF231922;AI651610;AK290983;AMYH02037725;AP000280;BC004959;BC069689;BC069709;BC069766;BC069779;BE466137;BM512397;BP214434;BU789528;CH471079;CN428551;DQ656042;KF459715;KF511381;NM_001162495;NM_001162496;NM_019596 AAF72946;AAI72318;BAF83672;EAX09853;EAX09854;NP_001155967;NP_001155968;NP_062542;Q9NYP8 Hs.517235 1803052;1804190;1804390;1804552;1814340;1815080;1816370;1816452;1816978;1819112;1825664;1826154;1827304;1827390;1827970;1829764;1830526;1834394;1836520;1838144;1838580;1838924;1839456;1840318;1858580;2022982;2022984;2022986;2022988;2022990;2022992;2022994;2022996;2022998;2023000;2023002;2023004;2023006;2023008;2023010;2023012;2023014;2023016;2023018;2023020;2023022;2023024;2023026;2023028;2023030;2023032;2023034;2023036;2023038;2023040;2023042;2023044;2023046;2023048;2023050;2023052;2023054;2023056;2023058;2023060;2023062;2023064;2023066;2023068;2023070;2023072;2023074;2023076;2023078;2023080;2023082;2023084;2023086;2023088;2023090;2023092;2023094;2023096;2023098;2023100;2023102;2023104;2023106;2023108;2023110;2023112;2023114;2023116;2023118;2023120;2023122;2023124;2023126;2023128;2023130;2023132;2023134;2023136;2023138;2023140;2023142;2023144;2023146;2023148;2023150;2023152;2023154;2023156;2023158;2023160;2023162;2023164;2023166;2023168;2023170;2023172;2023174;2023176;2023178;2023180;2023182;2023184;2023186;2023188;2023190;2023192;2023194;2023196;2023198;2023200;2100320;2100322;2100324;2100326;2100328;2100330;2100334;2100336;2100338;2100340;2100342;2100344;2100346;2100348;2100350;2100352;2100354;2100356;2100358;2100360;2100362;2100364;5015861;5015881;5015961;5021228;5022578;5037552;7185938 D10S16;D15S1477;D1S1423;D8S2279;ECD02417;ECD03015;ECD03119;ECD03205;ECD08199;ECD08572;ECD09227;ECD09268;ECD09538;ECD10622;ECD13940;ECD14187;ECD14767;ECD14811;ECD15108;ECD16014;ECD16398;ECD18345;ECD19423;ECD20244;ECD20464;ECD20641;ECD20910;ECD21344;ECD24491;GDB:312794;GDB:335751;REN82489;REN82490;REN82491;REN82492;REN82493;REN82494;REN82495;REN82496;REN82497;REN82498;REN82499;REN82500;REN82501;REN82502;REN82503;REN82504;REN82505;REN82506;REN82507;REN82508;REN82509;REN82510;REN82511;REN82512;REN82513;REN82514;REN82515;REN82516;REN82517;REN82518;REN82519;REN82520;REN82521;REN82522;REN82523;REN82524;REN82525;REN82526;REN82527;REN82528;REN82529;REN82530;REN82531;REN82532;REN82533;REN82534;REN82535;REN82536;REN82537;REN82538;REN82539;REN82540;REN82541;REN82542;REN82543;REN82544;REN82545;REN82546;REN82547;REN82548;REN82549;REN82550;REN82551;REN82552;REN82553;REN82554;REN82555;REN82556;REN82557;REN82558;REN82559;REN82560;REN82561;REN82562;REN82563;REN82564;REN82565;REN82566;REN82567;REN82568;REN82569;REN82570;REN82571;REN82572;REN82573;REN82574;REN82575;REN82576;REN82577;REN82578;REN82579;REN82580;REN82581;REN82582;REN82583;REN82584;REN82585;REN82586;REN82587;REN82588;REN82589;REN82590;REN82591;REN82592;REN82593;REN82594;REN82595;REN82596;REN82597;REN82598;stSG606671;stSG606672;stSG606673;stSG606674;stSG606675;stSG606676;stSG606678;stSG606679;stSG606680;stSG606681;stSG606682;stSG606683;stSG606684;stSG606685;stSG606686;stSG606687;stSG606688;stSG606689;stSG606690;stSG606691;stSG606692;stSG606693 B37;C21orf120;PRED81 OTTHUMP00000216389;OTTHUMP00000216390;OTTHUMP00000216391;hypothetical protein LOC56245;uncharacterized protein C21orf62 protein-coding HGNC:1305 10759 VALIDATED 1342798 C21orf72 chromosome 21 open reading frame 72 282568 HGNC:16026 1347302 C21orf77 chromosome 21 open reading frame 77 55264 AK001794;NM_018277 HGNC:16080 1351562 C21orf89 chromosome 21 open reading frame 89 q22.3 12036297 114042 P59042 AF426268 AAM53524;P59042 Hs.653520 protein-coding HGNC:16425 1347523 C21orf97 chromosome 21 open reading frame 97 AK024977 HGNC:16624 1352771 C21orf91 chromosome 21 open reading frame 91 INTERACTS WITH aflatoxin B1; amiodarone; benzo[a]pyrene 21 21 21 q21.1 4339748 4370167 - 19161284 19191703 - 17788967 17819386 - 6480464 12477932;12815627;14702039;16189514;16344560;18624398;20360068;22039568;8125298;9828130 54149 E7ETB0;Q68DA1;Q9NYK6 ABBA01057126;AF239726;AJ227876;AK023825;AK225123;AK314471;AL109761;AMYH02037562;BC015468;BF739854;CH471079;CR457317;CR749496;DA215855;DB066982;NM_001100420;NM_001100421;NM_017447 AAF44695;AAH15468;BAB14691;BAG37077;CAG33598;CAH18319;EAX10020;EAX10021;EAX10022;NP_001093890;NP_001093891;NP_059143;Q9NYK6 Hs.293811 1652901;1673269;1679271;1698574;1730716;1730843;1730845 D21S362;D21S384;D21S385;D5S2606;D7S2890;RH102839;RH36095 C21orf14;C21orf38;CSSG1;DKFZp781D1223;EURL;YG81 OTTHUMP00000083236;OTTHUMP00000083237;OTTHUMP00000083238;OTTHUMP00000083239;cold sore susceptibility gene 1;early undifferentiated retina and lens;protein EURL homolog protein-coding ENSG00000154642 HGNC:16459 10776 VALIDATED 1346389 C22orf12 chromosome 22 open reading frame 12 66034 AB050770 HGNC:14238 4140075 C21orf91-OT1 C21orf91 overlapping transcript 1 21 21 q21.1 19149721 19164826 - 17777404 17792509 - 12036297 246312 ABBA01057126;AI003918;AI201304;AL109761;AMYH02037562;AW469557;AY063452;AY063453;BX088960;BX099338;CR745563;HG511607;HG511608;NR_038870;NR_038871 Hs.473425;Hs.624361 AL109761.3;D21S2089E;NCRNA00285 APPROVED ncrna ENSG00000240770 HGNC:16729 VALIDATED 1351784 C22orf23 chromosome 22 open reading frame 23 22 22 22 q13.1 22141251 22151322 - 38339057 38349676 - 37943050 37953669 - 11237012;12477932;14702039;15342556;15461802;15489334;16344560;24250222 84645 B0QYM1;B0QYM2;Q9BZE7 ABBA01055494;ABBA01055495;AF324466;AK057349;AL031587;AMYH02038346;AMYH02038347;AMYH02038348;BC031998;BI463610;BI827388;BP368870;CH471095;CR456440;DA968042;NM_001207062;NM_032561;XM_005261781;XM_005261782;XM_005261783;XM_005261784;XM_005261785;XM_006724339 AAH31998;AAK07640;BAB71442;CAG30326;CAK54469;CAK54768;EAW60200;EAW60201;NP_001193991;NP_115950;Q9BZE7;XP_005261838;XP_005261839;XP_005261840;XP_005261841;XP_005261842;XP_006724402 Hs.517612 1676152;1684012;1699222;1770756;2180525;2185135 RH103192;RH46410;RH68010;RH92562;RH93282;SHGC-57930 EVG1;FLJ32787;dJ1039K5.6 OTTHUMP00000198218;OTTHUMP00000198219;OTTHUMP00000198220;OTTHUMP00000198221;OTTHUMP00000199345;UPF0193 protein EVG1;hypothetical protein LOC84645 protein-coding ENSG00000128346 HGNC:18589 12799 VALIDATED 1349066 C22orf15 chromosome 22 open reading frame 15 INTERACTS WITH cadmium dichloride (ortholog) 22 22 22 q11.23 7944301 7947143 + 24102622 24108050 + 23762875 23765863 + 6480464 10591208;12477932;14702039;15461802;16344560;8889548 150248 F8W7S3;Q8WYQ4 AB050773;ABBA01055120;AK093880;AMYH02038133;AP000348;AP000349;BC113450;BC113452;BU584544;BU739625;CH471095;CR456371;DB200363;NM_182520;XM_005261354;XM_005261357;XM_005261358;XM_006724142;XM_006724143;XM_006724144;XM_006724145 AAI13451;AAI13453;BAB83035;CAG30257;CAK54507;CAK54806;EAW59599;EAW59600;EAW59601;NP_872326;Q8WYQ4;XP_005261411;XP_005261414;XP_005261415;XP_006724205;XP_006724206;XP_006724207;XP_006724208 Hs.116254 2220680 UniSTS:492208 FLJ36561;N27C7-3 OTTHUMP00000198419;OTTHUMP00000198420;hypothetical protein LOC150248;uncharacterized protein C22orf15 protein-coding ENSG00000169314 HGNC:15558 08778 VALIDATED 1606220 C22orf29 chromosome 22 open reading frame 29 INVOLVED IN mitochondrial outer membrane permeabilization; regulation of mitochondrial membrane potential; FOUND IN mitochondrion; INTERACTS WITH bisphenol A; calcitriol; copper(2+) sulfate 22 22 22 q11.21 3685729 3694440 - 19833661 19842371 - 19846138 19854848 - 6480464 12477932;16344560;18029348;24250222;8125298 79680 C9J0V4;Q7L3V2 ABBA01005404;AC000076;AK024778;AK026924;AK225088;AK291262;AL832509;AMYH02038051;BC008696;BC011679;BX640785;BX640969;BX640998;CH471176;DA182195;DA757523;NM_024627 AAH11679;BAB14998;BAF83951;CAE45875;CAE45984;CAE46001;EAX03018;EAX03019;NP_078903;Q7L3V2 Hs.105642 1671460;1699616;1774071;2129696;2154583;2159289;5020988;5022322 D11S2560;D22S958;RH103410;RH46328;SHGC-56622;STS-AA041293;STS-T79756;WI-15274 BOP;FLJ21125 BH3-only protein;OTTHUMP00000196851;OTTHUMP00000196852;OTTHUMP00000196853;OTTHUMP00000197843;hypothetical protein LOC79680;uncharacterized protein C22orf29 protein-coding ENSG00000215012 HGNC:26112 13382 VALIDATED 1606462 C22orf39 chromosome 22 open reading frame 39 INTERACTS WITH (+)-catechin; trichostatin A; valproic acid 22 22 22 q11.21 3280666 3288012 - 19428409 19435755 - 19440886 19448232 - 6480464 12477932;14702039;15461802;21666788;21900206 128977 E0CX16;Q6P5X5 ABBA01005411;AC000068;AI379685;AK095271;AK290073;AMYH02038041;BC030758;BC046204;BC062599;BX337505;BX648073;CH471176;CR456339;NM_001166242;NM_173793 AAH62599;BAF82762;CAG30225;EAX03039;EAX03040;EAX03041;NP_001159714;NP_776154;Q6P5X5 Hs.659565 1854773;2112500;2128841;5015959;5022651 D10S2448;D11S2921;D22S1665;RH48037;RH65762 DKFZp686I08210;MGC74441 OTTHUMP00000196398;OTTHUMP00000196399;UPF0545 protein C22orf39;hypothetical protein LOC128977 protein-coding ENSG00000242259 HGNC:27012 14041 VALIDATED 1602005 C22orf24 chromosome 22 open reading frame 24 FOUND IN integral component of membrane (inferred) 22 22 22 q12.1-q12.3 16129958 16141784 - 32329507 32341336 - 31933521 31945350 - 10591208;24250222 25775 B7Z221;Q9Y442 ABBA01055356;ABBA01055357;AJ704765;AJ704766;AK294232;AK315264;AL050256;AMYH02038258;CH471095;KF457403;NM_015372;XM_005261497;Z82248 BAG37681;BAH11707;CAB43358;CAG28925;CAG28926;EAW60000;NP_056187;Q9Y442;XP_005261554 Hs.627602 1807346;1814548;1823110;1825826;1827864;1828968;1830182;1830980;1831256;1831864;1832560;1838578;1840864;1842456;1844852;2009840;2009842;2009844;2009846;2009848;2009850;2009852;2009854;2009856;2009858;2009860;2009862;2009864;2009866;2009868;2009870;2009872;2009874;2009876;2009878;2009880;2009882;2009884;2009886;2009888;2009890;2009892;2009894;2009896;2009898;2009900;2009902;2009904;2009906;2009908;2009910;2009912;2009914;2009916;2009918;2009920;2009922;2009924;2009926;2009928;2009930;2009932;2009934;2009936;2009938;2009940;2009942;2009944;2009946;2009948;2009950;2009952;2009954;2009956;2098064;2098066;2098068;2098070;2098072;2098074;2098076;2098078;2098080;2098082 ECD04644;ECD08304;ECD12643;ECD14021;ECD15055;ECD15611;ECD16224;ECD16626;ECD16764;ECD17070;ECD17420;ECD20463;ECD21625;ECD22431;ECD23642;REN75841;REN75842;REN75843;REN75844;REN75845;REN75846;REN75847;REN75848;REN75849;REN75850;REN75851;REN75852;REN75853;REN75854;REN75855;REN75856;REN75857;REN75858;REN75859;REN75860;REN75861;REN75862;REN75863;REN75864;REN75865;REN75866;REN75867;REN75868;REN75869;REN75870;REN75871;REN75872;REN75873;REN75874;REN75875;REN75876;REN75877;REN75878;REN75879;REN75880;REN75881;REN75882;REN75883;REN75884;REN75885;REN75886;REN75887;REN75888;REN75889;REN75890;REN75891;REN75892;REN75893;REN75894;REN75895;REN75896;REN75897;REN75898;REN75899;stSG602406;stSG602407;stSG602408;stSG602409;stSG602410;stSG602411;stSG602412;stSG602413;stSG602414;stSG602416 HSN44A4A OTTHUMP00000028906;hypothetical protein LOC25775;uncharacterized protein C22orf24 protein-coding ENSG00000128254 HGNC:23051 PREDICTED 1606236 C22orf46 chromosome 22 open reading frame 46 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH methyl methanesulfonate; paracetamol 22 22 22 q13.2 25892983 25900572 + 42086547 42094140 + 41690543 41698136 + 6480464;8554872 12477932;14702039;15231748;21832049 79640 C9J442;Q9H5C5 ABBA01055651;AK027237;AK095008;AK131457;AMYH02038447;BC007210;BC035403;CH471095;NM_001142964;Z83840 AAH07210;BAB15702;BAD18602;C9J442;EAW60455;EAW60457;NP_001136436 Hs.517653 1681004 RH74961 FLJ23584 CTA-216E10.6;OTTHUMP00000199327;putative uncharacterized protein C22orf46;uncharacterized protein C22orf46 APPROVED protein-coding ENSG00000184208 HGNC:26294 08037 VALIDATED 1604988 C22orf42 chromosome 22 open reading frame 42 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; trichostatin A 22 22 22 q12.3 16345977 16355751 - 32544993 32555510 - 32149006 32159523 - 6480464;8554872 12477932;15461802 150297 Q6IC83 ABBA01055365;AL008723;AMYH02038264;BC040263;CH471095;CR456485;NM_001010859;XM_005261369;Z83839 AAI39846;CAG30371;EAW60007;EAW60008;NP_001010859;Q6IC83;XP_005261426 Hs.426551 1799346;1802284;1803558;1803560;1806582;1819172;1824484;1824628;1826498;1831202;1845974;2011630;2011632;2011634;2011636;2011638;2011640;2011642;2011644;2011646;2011648;2011650;2011652;2011654;2011656;2011658;2011660;2011662;2011664;2011666;2011668;2011670;2011672;2011674;2011676;2011678;2011680;2011682;2011684;2011686;2011688;2011690;2011692;2011694;2011696;2011698;2011700;2011702;2011704;2011706;2098350;2098352;2098354;2098356;2098358;2098360;2098362;5112884;5121975 ECD00522;ECD02026;ECD02680;ECD02681;ECD04248;ECD10653;ECD13340;ECD13412;ECD14363;ECD16737;ECD20124;ECD24207;REN76741;REN76742;REN76743;REN76744;REN76745;REN76746;REN76747;REN76748;REN76749;REN76750;REN76751;REN76752;REN76753;REN76754;REN76755;REN76756;REN76757;REN76758;REN76759;REN76760;REN76761;REN76762;REN76763;REN76764;REN76765;REN76766;REN76767;REN76768;REN76769;REN76770;REN76771;REN76772;REN76773;REN76774;REN76775;REN76777;REN76778;REN76779;REN76780;REN76781;stSG602559;stSG602560;stSG602561;stSG602563;stSG602564;stSG602565;stSG602566 RP1-127L4.6;dJ90G24.6 OTTHUMP00000028678;uncharacterized protein C22orf42 protein-coding ENSG00000205856 HGNC:27160 14087 PROVISIONAL 2303885 C22orf34 chromosome 22 open reading frame 34 22 22 22 q13.33 33934897 33972840 - 50013290 50051190 - 49619642 49657542 - 12477932;16344560;24159190;24529757 348645 A6ZJ96;C9JIL5;F2Z342;F2Z3N5;H7C0R5;Q6ZV56 ABBA01031331;ABBA01031332;AK124962;AK126430;AL008636;AL031593;AMYH02038579;BC033837;BC048207;BC118575;BM051939;DA235633;DB070218;KF457513;KF457517;KF511471;LN608963;LN608967;LN608968;NM_001289922;NR_026997;NR_110522;NR_110523;XR_244451;XR_249058;XR_254110;Z82189;Z97192 BAC86548;NP_001276851;Q6ZV56 Hs.133159;Hs.397890 1693530;1714195 RH119708;SHGC-58440 uncharacterized protein C22orf34 protein-coding ENSG00000188511 HGNC:28010 14180 VALIDATED 1604374 C22orf31 chromosome 22 open reading frame 31 ASSOCIATED WITH Melanoma (inferred) 22 22 22 q12.1 13254591 13257838 - 29454660 29457922 - 29058672 29061934 - 8554872 10591208;12477932;12529303;15461802;15489334;18029348;20379614 25770 O95567 ABBA01055254;AL021393;AL035364;AMYH02038197;BC074758;BC126262;BC126264;CH471095;CR456405;NM_015370;XM_005261490;XM_005261491 AAH74758;AAI26263;AAI26265;ABZ92316;ADR82916;ADR82921;CAA23017;CAG30291;EAW59772;NP_056185;O95567;XP_005261547;XP_005261548 Hs.50891 1684712;1747413;1747415;2166916;2219144 G65433;G65434;HS747E2A__6596;RH98220;SHGC-37725 HS747E2A;bK747E2.1 OTTHUMP00000198941;hypothetical protein LOC25770;uncharacterized protein C22orf31 protein-coding ENSG00000100249 HGNC:26931 11031 PREDICTED 1606712 C2CD4A C2 calcium-dependent domain containing 4A FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; cyclosporin A; progesterone 15 15 15 q22.2 39248417 39252360 + 62359176 62363116 + 62066977 62070917 + 6480464 15527968;16341674;20818381;20881960;21799836;21873549;23522043;23945395 145741 Q8NCU7 ABBA01038928;AC104590;AF504646;AMYH02030574;BF196228;BM742013;BX648578;CH471082;NM_207322 AAI72259;AAM28197;EAW77609;NP_997205;Q8NCU7 Hs.202656 DKFZp686O2263;FAM148A;NLF1 C2 calcium-dependent domain-containing protein 4A;family with sequence similarity 148, member A;nuclear localized factor 1;nuclear-localized factor 1 APPROVED protein-coding ENSG00000198535 HGNC:33627 14830 610343 VALIDATED 1604924 C2CD4B C2 calcium-dependent domain containing 4B FOUND IN focal adhesion; nucleolus; INTERACTS WITH amiodarone; medroxyprogesterone acetate; silicon dioxide 15 15 15 q22.2 39344987 39346711 - 62455734 62458359 - 62163538 62165283 - 6480464 15527968;16341674;16344560;18029348;20081858;20185807;20419449;20571754;20818381;20862305;21799836;21873549;22885067;23945395;8889548 388125 A6NLJ0 ABBA01038928;AC126323;AMYH02030574;AW292865;BM023530;BM127548;BM850957;BM974537;BQ101161;BX109954;DA584890;NM_001007595 A6NLJ0;AAI72378;NP_001007596 Hs.144372 FAM148B;NLF2 C2 calcium-dependent domain-containing protein 4B;family with sequence similarity 148, member B;nuclear localized factor 2;nuclear-localized factor 2 APPROVED protein-coding ENSG00000205502 HGNC:33628 17636 610344 VALIDATED 1607065 C2CD3 C2 calcium-dependent domain containing 3 INVOLVED IN centriole elongation; nonmotile primary cilium assembly; protein localization to centrosome; ASSOCIATED WITH Abnormal facial shape (inferred); Cleft palate (inferred); Hypoplasia of the corpus callosum (inferred); FOUND IN centriolar satellite; centriole; centrosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; arsane; arsenic atom 11 11 11 q13.4 71052284 71188859 - 73723759 73882064 - 74012714 74171019 - 6480464;8554872;8699517 12477932;14702039;16344560;21139048;21906983;24250222 26005 F5H0U2;H0YFM6;H0YG44;H7BZB4;H7C288;Q4AC94 AB231763;AB231764;ABBA01017494;ABBA01017495;ABBA01017496;ABBA01017497;AI873280;AK091397;AK092089;AK125894;AL080220;AL833903;AMYH02025102;AMYH02025103;AP002392;AP003717;BC035599;BC110508;BM460060;CD369754;DB068715;DB078025;KF495682;NM_001286577;NM_015531;XM_005273893;XM_005273895;XM_005273896;XM_005273897;XM_006718495 AAH35599;AAI10509;BAC03654;BAC03802;BAC86334;BAE17137;BAE46898;CAB45779;CAD38759;NP_001273506;NP_056346;Q4AC94;XP_005273950;XP_005273952;XP_005273953;XP_005273954;XP_006718558 Hs.557938;Hs.694798 1665606;1686538;1724119;1735096;1737987;2148653;2176309;2180121;5126134 A008X42;D11S3588;D11S944E;D3S2776E;RH119059;RH26881;RH36451;RH66358;WI-18676 DKFZp586P0123;FLJ34770;OFD14 C2 domain-containing protein 3;OTTHUMP00000237955 protein-coding ENSG00000168014 HGNC:24564 16811 615944;615948 VALIDATED 1351796 C2CD2 C2 calcium-dependent domain containing 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; nucleus; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; cytarabine 21 21 21 q22.3 28452727 28521539 - 43305219 43374066 - 41885110 41953890 - 6480464;8554872 10830953;12477932;15289880;16780588;19322201;20494980;21139048;24057671 25966 H7BZB0;Q9Y426 AB047784;AB047785;ABBA01014181;AI143200;AI298951;AK125120;AK128550;AK129520;AL050173;AL833323;AMYH02037870;AP001619;AP001745;BC020927;BC035070;BC062323;CH471079;CR627455;NM_015500;NM_199050;R13033;XM_005261106;XM_005261107;XM_005261109 AAH62323;BAA95528;BAC85176;BAD74068;BAD74069;BAG54149;BAG54693;CAB43307;CAH10536;EAX09582;EAX09583;NP_056315;NP_950251;Q9Y426;XP_005261163;XP_005261164;XP_005261166 Hs.473894;Hs.675058 1663454;1689963;1696920;1723063;1735034;2122441;2165608;2185052;2185641;5015961;5105797 D15S1477;D21S1728E;D21S1863;D5S2584;G34529;RH101928;RH121883;RH45596;RH79573;SHGC-147283;WI-20893 C21orf25;C21orf258;DKFZp586F0422;DKFZp686O198;MGC71445;TMEM24L C2 domain-containing protein 2;OTTHUMP00000109276;OTTHUMP00000204005;TMEM24 related geme;TMEM24-like protein-coding ENSG00000157617 HGNC:1266 10745 VALIDATED 1321089 C2CD2L C2CD2-like ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; diazinon 11 11 11 q23.3 116135506 116145233 + 118977771 118988304 + 119107061 119117124 + 737633;1580863;6480464;8554872 12477932 12168954;15289880;15489334;16368544;17081983;21139048;24012759;9179496 9854 E9PK05;O14523 AB006623;AB094094;ABBA01039679;AK025223;AMYH02025661;AP003391;BC003598;BC010071;BC021254;BC022219;BC033083;BC040131;BC052246;BC075832;BX327704;BX537572;CA309483;CH471065;DA768421;DA801995;NM_001290474;NM_014807;XM_005271738;XM_005271739;XM_005271740;XM_005271741;XM_005271742;XM_006718948 AAH03598;AAH10071;AAH21254;AAH22219;AAH33083;AAH52246;AAH75832;BAA22954;BAC76048;EAW67456;EAW67457;EAW67458;EAW67459;NP_001277403;NP_055622;O14523;XP_005271795;XP_005271796;XP_005271797;XP_005271798;XP_005271799;XP_006719011 Hs.26899 1731477;1737757;1850503;2109977;5015404 D11S3352;D11S368;L17705;RH15998;TMEM24_9007 DLNB23;KIAA0285;TMEM24 C2 domain-containing protein 2-like;OTTHUMP00000232079;OTTHUMP00000232080;transmembrane protein 24 APPROVED protein-coding HGNC:29000 15533 VALIDATED 1354289 C2orf12 chromosome 2 open reading frame 12 q24.3 12477932;15489334;15815621 192137 Q8TDM3 AC092153;AL117617;BC065192;BC069687;BC069706;BC069763;BC080620;XM_938663;XM_944033 AAH65192;AAH69687;AAH69706;AAH69763;AAH80620;AAX93094;Q8TDM3;XP_943756;XP_949126 Hs.470412 DKFZp564H0764;HCC-4 protein-coding HGNC:24242 1351171 C2CD4C C2 calcium-dependent domain containing 4C INTERACTS WITH aflatoxin B1; potassium dichromate (ortholog) 19 19 19 p13.3 405821 409548 + 405443 409170 - 405438 409170 - 6480464 11853319;15527968;23251661 126567 Q8TF44 AB075837;ABBA01002560;AC008988;AL834341;AMYH02035107;CH471242;NM_001136263;XM_006722649 BAB85543;CAD39008;EAW61198;EAW61199;EAW61200;NP_001129735;Q8TF44;XP_006722712 Hs.223770 2180228 WI-14847 FAM148C;KIAA1957;NLF3 C2 calcium-dependent domain-containing protein 4C;family with sequence similarity 148, member C;nuclear localized factor 3;nuclear-localized factor 3 APPROVED protein-coding ENSG00000183186 HGNC:29417 610336 VALIDATED 736134 C2CD5 C2 calcium-dependent domain containing 5 ENCODES a protein that exhibits calcium ion binding; calcium-dependent phospholipid binding; INVOLVED IN cellular response to insulin stimulus; intracellular protein transmembrane transport; positive regulation of protein targeting to membrane; FOUND IN cell cortex; cytoplasmic vesicle membrane; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; copper(2+) sulfate 12 12 12 p12.1 27749342 27845274 - 22601511 22697452 - 22448546 22544546 - 6480464 12477932;15302935;15489334;17081983;17353931;19322201;21139048;21853274;21907143;22939629;23455922;23602568;24255178;25096995;9628581 9847 B7ZLK1;H0YFC4;H0YFE9;H0YGU7;Q86YS7 AB011100;ABBA01067986;AC053513;AK295862;AK299353;AK310753;AMYH02026180;AW590675;AY166851;BC042498;BC053885;BC117143;BC143859;BC143860;BC143878;BP418369;BX648560;CH471094;DC333318;NM_001286173;NM_001286174;NM_001286175;NM_001286176;NM_001286177;NM_014802;XM_005253538;XM_005253539;XM_006719164;XM_006719165;XM_006719166;XM_006719167;XM_006719168;XM_006719169;XM_006719170 AAH42498;AAH53885;AAI17144;AAI43860;AAI43861;AAI43879;AAO17290;BAA25454;BAG58665;BAG61349;EAW96473;EAW96474;EAW96475;EAW96476;NP_001273102;NP_001273103;NP_001273104;NP_001273105;NP_001273106;NP_055617;Q86YS7;XP_005253595;XP_005253596;XP_006719227;XP_006719228;XP_006719229;XP_006719230;XP_006719231;XP_006719232;XP_006719233 Hs.271014 1678365;1680547 RH36754;RH76458 CDP138;DKFZp779N2044;KIAA0528 138 kDa C2 domain-containing phosphoprotein;C2 domain-containing phosphoprotein of 138 kDa;C2 domain-containing protein 5;OTTHUMP00000240092;OTTHUMP00000240093;OTTHUMP00000240094;OTTHUMP00000240095;OTTHUMP00000240096;OTTHUMP00000240097;hypothetical protein LOC9847;phosphatidylinositol glycan, class l;uncharacterized protein KIAA0528 APPROVED protein-coding ENSG00000111731 HGNC:29062 11087 VALIDATED 1347260 C2orf20 chromosome 2 open reading frame 20 394262 BC009491 HGNC:31020 1349020 C2orf15 chromosome 2 open reading frame 15 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH copper(2+) sulfate; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q11.2 93962876 93972638 + 99758185 99767950 + 99141722 99151487 + 6480464 12477932;15489334;15815621;21926972;24250222 150590 Q8WU43 ABBA01073951;ABBA01073952;AC092587;AK314133;AMYH02004395;BC021264;CH471127;NM_144706 AAH21264;AAX88926;ABM83537;ABM86777;BAG36823;EAX01893;NP_653307;Q8WU43 Hs.352211 FLJ44438;MGC29762 OTTHUMP00000161214;OTTHUMP00000203295;hypothetical protein LOC150590;uncharacterized protein C2orf15 protein-coding ENSG00000273045 HGNC:28436 12806 PREDICTED 3563711 C2CD4D C2 calcium-dependent domain containing 4D INTERACTS WITH benzo[a]pyrene (ortholog); C60 fullerene (ortholog); cadmium dichloride (ortholog) 1 1 1 q21.3 124925032 124927726 - 151810339 151813033 - 151837863 151840557 - 6480464 12477932 100191040 B7Z1M9 ABBA01049405;AK293673;AL589765;AMYH02001889;BC157847;BC171843;DC305608;NM_001136003 AAI57848;AAI71843;B7Z1M9;BAH11565;NP_001129475 Hs.694717 2179324 RH48909 FAM148D;MGC189742 C2 calcium-dependent domain-containing protein 4D;OTTHUMP00000235505;family with sequence similarity 148, member D protein-coding ENSG00000225556 HGNC:37210 VALIDATED 3051032 C2orf27AP1 chromosome 2 open reading frame 27A pseudogene 1 Y Y 13241152 13241737 - 11085476 11086061 - 100420811 ABBA01013637;AC140113;NG_021911 pseudo HGNC:38413 INFERRED 8553168 C2orf27AP3 chromosome 2 open reading frame 27A pseudogene 3 9 9 42266973 42267558 + 40121955 40122540 + 100420784 AL773545;NG_023900 pseudo HGNC:50418 INFERRED 8548732 C2orf27AP2 chromosome 2 open reading frame 27A pseudogene 2 9 9 9 p21.1 30599817 30600412 - 30670985 30671580 - 30670987 30671582 - 100131855 ABBA01065098;AL390844;AMYH02019390;NG_021611 pseudo HGNC:49813 INFERRED 1344280 C2orf31 chromosome 2 open reading frame 31 737633 12477932 11230166 81561 AL136852 HGNC:25264 1352942 C2orf16 chromosome 2 open reading frame 16 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; nucleus 2 2 2 p23.3 27644817 27651017 + 27799389 27805589 + 27576522 27582722 + 8554872 11230166;12477932;15815621;17081983;19056867;20705733;21386085;22001757;23362303;23505323 84226 Q68DN1 ABBA01045211;AC074091;AL136898;AL834384;AMYH02003480;BC115376;BC115377;BC140828;CH471053;CR749335;NM_032266 AAI15377;AAI40829;AAX93198;CAB66832;CAD39047;CAH18189;EAX00566;NP_115642;Q68DN1 Hs.131021 DKFZp434G118;DKFZp781D2023 OTTHUMP00000214070;P-S-E-R-S-H-H-S repeats containing;hypothetical protein LOC84226;uncharacterized protein C2orf16 protein-coding ENSG00000221843 HGNC:25275 09849 VALIDATED 1353501 C2orf27A chromosome 2 open reading frame 27A INTERACTS WITH arsane; arsenic atom; paraoxon 2 2 2 q21.2 126204833 126250421 + 132479973 132524977 + 131722400 131767404 + 6480464 12477932;15489334;15815621;8619474;9110174 29798 Q580R0 ABBA01028227;AC093724;AC226740;AC244624;AF038169;AI302788;AI418663;BC071972;BC093716;BC112189;CH471058;NM_013310;XM_005263649;XM_006724987;XM_006724988 AAB97362;AAH93716;AAI12190;AAX82001;EAX11684;EAX11685;EAX11686;NP_037442;Q580R0;XP_005263706;XP_006725050;XP_006725051 Hs.635289;Hs.655680 2185223;5113679 RH11944;RH99290 C2orf27;C2orf27B;MGC138394 OTTHUMP00000162444;hypothetical protein LOC29798;uncharacterized protein C2orf27 protein-coding ENSG00000197927 HGNC:25077 12811 VALIDATED 1603029 C2orf42 chromosome 2 open reading frame 42 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; elemental selenium; formaldehyde 2 2 2 p13.3 70227826 70268958 - 70377017 70418151 - 70149885 70191019 - 6480464;8554872 12477932;22990118;23251661 54980 C9J4L7;C9J5U1;C9JJF4;C9JK51;C9JKD5;C9JS43;C9JV10;C9JZF3;Q9NWW7 ABBA01075526;ABBA01075527;ABBA01075528;ABBA01075529;AC016700;AK000565;AK026303;AL136834;AMYH02004035;AX405738;BC002825;BC005079;CH471053;NM_017880;XM_005264389;XM_005264390;XM_005264391;XR_244943 AAH02825;AAH05079;AAX93192;BAA91258;BAB15438;CAB66768;CAD34845;EAW99828;EAW99829;EAW99830;EAW99831;NP_060350;Q9NWW7;XP_005264446;XP_005264447;XP_005264448 Hs.720049 FLJ20558 OTTHUMP00000160044;OTTHUMP00000203977;hypothetical protein LOC54980;uncharacterized protein C2orf42 protein-coding ENSG00000115998 HGNC:26056 07927 PREDICTED 1605056 C2orf43 chromosome 2 open reading frame 43 INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; copper(2+) sulfate 2 2 2 p24.1 20747203 20885172 - 20883788 21022890 - 20684014 20823130 - 6480464 12477932;14702039;17135363;17207965;20339536;20379614;20676098;21059979;21139048;21890473;21906983;22662242;24357060 60526 B4DRG3;B4DS38;B4DWE2;B5MCE2;B5MCU4;B5MDU6;C9JHU6;C9JUM0;D3YTH1;Q9H6V9 ABBA01018472;ABBA01018473;AC012065;AC012361;AK021672;AK025473;AK299244;AK299555;AK300494;AK301493;AK316162;AK316204;AK316310;AL137397;AMYH02003374;AW243875;BC017473;CH471053;DC421670;NM_001282719;NM_001282720;NM_001282721;NM_001282722;NM_001282723;NM_001282724;NM_021925;NR_104233;XR_426990;XR_426991;XR_426992 AAH17473;AAX93236;AAY14959;ADQ31891;BAB15142;BAG61275;BAG61500;BAG62208;BAG63004;BAH14533;BAH14575;BAH14681;EAX00806;EAX00807;EAX00808;EAX00809;EAX00810;NP_001269648;NP_001269649;NP_001269650;NP_001269651;NP_001269652;NP_001269653;NP_068744;Q9H6V9 Hs.187823 1659222;1674343;1687746;1776795;1790727;1790731;1850439;2144350;2171213;2178552;2182136 AFMa070za9;B293ZC9;RH44584;RH65141;RH66466;RH99120;SHGC-12237;SHGC-33648;STS-ETM1231;STS-ETM1240;WI-11147 FLJ21820 OTTHUMP00000151184;OTTHUMP00000151185;UPF0554 protein C2orf43;hypothetical protein LOC60526 protein-coding ENSG00000118961 HGNC:26145 07113 613570 VALIDATED 1601962 C2orf44 chromosome 2 open reading frame 44 INTERACTS WITH thioacetamide (ortholog) 2 2 2 p23.3 24092585 24110627 - 24252206 24270296 - 24029336 24047426 - 6480464 12029088;12477932;16051665;16169070;16344560;17353931;18218781;19197348;19596235;20360068;21900206;22327622;23455922;23602568;24778252;24816145 80304 C9JYC1;Q9H6R7 ABBA01045100;ABBA01045101;AC104665;AF218013;AI800484;AK025598;AMYH02003410;BC035698;CH471053;CX756689;DB292134;NM_001142319;NM_025203 AAG17255;AAH35698;AAY24115;BAB15186;EAX00771;EAX00772;NP_001135791;NP_079479;Q9H6R7 Hs.24624 1681245;1682251;1694540;1770027;2168809 G43158;RH36907;RH79240;RH93548;STS-R16779 FLJ21945;PP384 OTTHUMP00000155153;OTTHUMP00000200748;WD repeat-containing protein C2orf44 protein-coding ENSG00000163026 HGNC:26157 07972 VALIDATED 1603606 C2orf40 chromosome 2 open reading frame 40 INVOLVED IN cellular senescence (inferred); cyclin catabolic process (inferred); G1 to G0 transition (inferred); FOUND IN cytoplasmic vesicle (inferred); extracellular space (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; silicon dioxide 2 2 2 q12.2 100882549 100895038 + 106682113 106694611 + 106064298 106078155 + 6480464 12477932;12800218;12975309;15489334;15815621;17284679;17786363;18029348;19521989;20017917;20598162;21288367;21436262;21935431;22110708;22325214;22411956;22526622;22626786;22901147;23553029;23770814;23957914;24058526 84417 B8ZZE5;C9JRR0;Q9H1Z8 ABBA01073844;ABBA01073845;ABBA01073846;AC018878;AF325503;AMYH02004483;AMYH02004484;AY358601;BC021742;CH471127;CS072958;FB740500;NM_032411;XM_006712799 AAG42321;AAH21742;AAQ88964;AAY15084;ABM83338;ABM86552;CAI93686;CAX20415;EAX01751;EAX01752;NP_115787;Q9H1Z8;XP_006712862 Hs.43125 1663737 RH69278 ECRG4 OTTHUMP00000161527;OTTHUMP00000203230;OTTHUMP00000203231;augurin;esophageal cancer related gene 4 protein;esophageal cancer-related gene 4 protein protein-coding ENSG00000119147 HGNC:24642 13261 611752 VALIDATED 1603199 C2orf47 chromosome 2 open reading frame 47 FOUND IN mitochondrion (inferred); INTERACTS WITH atrazine; hydrogen peroxide; paracetamol 2 2 2 q33.1 194574744 194583552 + 200820040 200828848 + 199955317 199964125 + 6480464 12477932;17207965;19176441;20360068;20877624;21139048;21832049;21890473;21963094;23000965;23503679;23752268;23974872 79568 H7C0V0;Q8WWC4 ABBA01062509;AC097717;AK026208;AL832964;AMYH02005533;BC017959;BQ448209;CH471063;NM_024520;XM_005246852;XR_427111 AAH17959;AAY24163;ADQ32132;BAB15393;CAH56348;EAW70195;EAW70196;NP_078796;Q8WWC4;XP_005246909 Hs.154494 2172917 RH78324 DKFZp666A212;FLJ22555 OTTHUMP00000163659;hypothetical protein LOC79568;uncharacterized protein C2orf47, mitochondrial protein-coding ENSG00000162972 HGNC:26198 07994 VALIDATED 1601786 C2orf27B chromosome 2 open reading frame 27B INTERACTS WITH diazinon 2 2 2 q21 126249636 126283838 + 132552534 132559234 - 131794961 131801661 - 12477932;17207965;23275563 408029 Q580R0 ABBA01028227;AC103564;AC226740;AC244624;BC043584;LN607933;NM_214461 AAH43584;AAY24065;ADQ33114;NP_999626 Hs.145567 2185223;5113679 RH11944;RH99290 MGC50273 OTTHUMP00000206272;hypothetical protein LOC408029;uncharacterized protein LOC408029 protein-coding ENSG00000186825 HGNC:33824 14664 PREDICTED 1606097 C2orf48 chromosome 2 open reading frame 48 2 2 2 p25.1 10197558 10267755 + 10281509 10351856 + 10141854 10210816 + 12477932;14702039;15489334;23535732 348738 Q96LS8 ABBA01015606;ABBA01015607;ABBA01015608;AC007240;AK057831;AMYH02003265;AMYH02003266;BC093999;BC094001;CH471053;KF510746;LN607907;NM_182626 AAH93999;AAH94001;BAB71592;EAX00967;NP_872432;Q96LS8 Hs.454981 1687882 RH92352 FLJ25102 OTTHUMP00000147547;hypothetical protein LOC348738;uncharacterized protein C2orf48 protein-coding HGNC:26322 08049 PREDICTED 1605342 C2orf54 chromosome 2 open reading frame 54 INTERACTS WITH (+)-catechin; 17beta-estradiol; aflatoxin B1 2 2 2 q37.3 235498112 235508356 - 241825465 241836267 - 240886048 240896156 - 6480464 12477932;14702039 79919 B3KU29;C9JEK0;C9JP86;Q08AI8 ABBA01006034;AC104809;AK026324;AK055735;AK056601;AK096434;AMYH02006102;BC125154;BC125155;CH471063;NM_001085437;NM_001282921;NM_024861 AAI25155;AAI25156;AAY24169;BAB15445;BAG51761;BAG53291;EAW71218;EAW71219;EAW71220;NP_001078906;NP_001269850;NP_079137;Q08AI8 Hs.193745 1763313;1773572;1779414 RH64976;SHGC-147042;SHGC-153404 FLJ22671;MGC150431;MGC150432 OTTHUMP00000200750;OTTHUMP00000200751;OTTHUMP00000200752;hypothetical protein LOC79919;uncharacterized protein C2orf54 protein-coding ENSG00000172478 HGNC:26216 08003 VALIDATED 1604753 C2orf50 chromosome 2 open reading frame 50 2 2 2 p25.1 11188994 11202728 + 11273179 11286916 + 11133053 11154569 + 12477932;22779921;23319000 130813 Q96LR7 ABBA01015641;ABBA01015642;AC018463;AC062028;AK057872;AK292828;AMYH02003280;BC120930;CH471053;NM_182500;XM_006711857;XM_006711858;XM_006711859;XM_006711860 AAI20931;BAB71603;BAF85517;EAX00943;EAX00944;NP_872306;Q96LR7;XP_006711920;XP_006711921;XP_006711922;XP_006711923 Hs.406894 FLJ25143;MGC149401 OTTHUMP00000147596;OTTHUMP00000200414;hypothetical protein LOC130813;uncharacterized protein C2orf50 protein-coding ENSG00000150873 HGNC:26324 08051 VALIDATED 1604297 C2orf49 chromosome 2 open reading frame 49 INVOLVED IN embryonic morphogenesis (inferred); FOUND IN tRNA-splicing ligase complex; INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; cyclosporin A 2 2 2 q12.1 100154460 100162431 + 105953714 105976514 + 105337359 105360051 + 6480464 12477932;15489334;15815621;16680723;17081983;21832049;22174317;22939629;22944692;22990118 79074 C9J4K0;Q9BVC5 ABBA01073858;AC012360;AK127661;AK304268;AK307891;AMYH02004471;BC001310;BQ003369;CH471127;NM_001286537;NM_024093;XM_005264019;XM_005264020 AAH01310;AAY15011;ABM82138;ABM85321;BAG54545;BAG65131;EAX01763;NP_001273466;NP_076998;Q9BVC5;XP_005264076;XP_005264077 Hs.549577 1689773;5022322;5037552 D11S2560;D8S2279;RH26023 FLJ45759;MGC5509;asw OTTHUMP00000161377;OTTHUMP00000203145;ashwin protein-coding ENSG00000135974 HGNC:28772 14688 VALIDATED 1602960 C2orf61 chromosome 2 open reading frame 61 INTERACTS WITH (+)-catechin 2 2 2 p21 47152977 47221350 - 47314130 47382517 - 47086991 47155378 - 14702039;16344560;20339536;20379614 285051 H7C3W9;Q8N801 ABBA01075150;ABBA01075151;ABBA01075152;ABBA01075153;AC073283;AK097491;AMYH02003749;AMYH02003750;CH471053;DA313162;NM_001163561;NM_173649 AAI72329;AAY24084;BAC05075;EAX00224;EAX00225;NP_001157033;NP_775920;Q8N801 Hs.531575 FLJ40172 OTTHUMP00000159071;OTTHUMP00000203195;hypothetical protein LOC285051;uncharacterized protein C2orf61 protein-coding ENSG00000239605 HGNC:26850 08273 VALIDATED 1606379 C2orf68 chromosome 2 open reading frame 68 INTERACTS WITH benzo[a]pyrene; trichostatin A; valproic acid 2 2 2 p11.2 85660660 85667462 - 85832376 85839179 - 85605253 85612056 - 6480464 12477932;14702039;15146197;19322201;21874238;23404111;25023051 388969 F6S878;H7C1Q5;L7T9J5;Q2NKX9 ABBA01075761;AC012454;AC016753;AK024174;AK092972;AK124808;AK300003;AK311297;AMYH02004184;AMYH02004185;BC057834;BC111483;BU619982;CH471053;CN303296;JX960761;NM_001013649;XM_005264304;XM_005264305;XM_005264306 AAI11484;AGC31581;BAC85956;BAG61822;EAW99495;NP_001013671;Q2NKX9;XP_005264361;XP_005264362;XP_005264363 Hs.516159 1675078;2148268;5014051;5015619;5016596;5020274;5021872;5022200;5022450;5022578;5022651;5037552;5037554 D10S275;D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;D8S2282;GDB:631802;L18426;L18441;SHGC-32166;WI-17158;sY3084 FLJ14112;FLJ35653;HCRCN81;MGC131675 OTTHUMP00000203084;UPF0561 protein C2orf68;hypothetical protein LOC388969 protein-coding HGNC:34353 18391 VALIDATED 1602399 C2orf66 chromosome 2 open reading frame 66 FOUND IN extracellular region (inferred) 2 2 2 q33.1 191425877 191430868 - 197669139 197675000 - 196804415 196810276 - 12477932;12975309 401027 Q6UXQ4 ABBA01062462;AC012486;AMYH02005511;AW768745;AY358249;BC137150;BC137151;CH471063;NM_213608 AAI37151;AAI37152;AAQ88616;EAW70135;NP_998773;Q6UXQ4 Hs.245666;Hs.372069 IIDS6411;UNQ6411 OTTHUMP00000163620;hypothetical protein LOC401027;uncharacterized protein C2orf66 protein-coding HGNC:33809 13734 VALIDATED 1606945 C2orf57 chromosome 2 open reading frame 57 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine 2 2 2 q37.1 226233973 226235392 + 232457575 232458994 + 231592864 231594283 + 8554872 12477932;20379614;21832049 165100 Q53QW1 ABBA01002055;AC104634;AMYH02005972;BC034405;BC063389;CH471063;NM_152614 AAH34405;AAH63389;AAY24071;ABM82214;ABM85398;EAW70967;NP_689827;Q53QW1 Hs.98104 1685782 RH92133 MGC35154 OTTHUMP00000164298;hypothetical protein LOC165100;uncharacterized protein C2orf57 protein-coding ENSG00000177673 HGNC:28563 14602 VALIDATED 2298740 C2orf72 chromosome 2 open reading frame 72 INTERACTS WITH benzo[a]pyrene; paracetamol; quercetin 2 2 2 q37.1 225677793 225689941 + 231902281 231914429 + 231037566 231049714 + 6480464 11752456;15815621;16344560;8619474;9110174 257407 A6NCS6 ABBA01002064;ABBA01002065;ABBA01002066;AC009407;AF007149;AF070612;AF086098;AMYH02005961;AMYH02005962;AMYH02005963;AV658788;DA141613;DB303203;NM_001144994 A6NCS6;NP_001138466 Hs.526596;Hs.551993 1645816;1850415;2147917;2167650;5022578 A007A45;D1S1423;RH16222;RH67878;SHGC-34388 OTTHUMP00000204821;hypothetical protein LOC257407;uncharacterized protein C2orf72 protein-coding ENSG00000204128 HGNC:27418 VALIDATED 1603539 C2orf69 chromosome 2 open reading frame 69 FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 2 2 2 q33.1 194531108 194547696 + 200775979 200792996 + 199911256 199928273 + 6480464 12477932;14702039;16344560;17207965;23974872;24654937 205327 Q8N8R5 ABBA01062508;AC097717;AK096292;AMYH02005532;AMYH02005533;BC036456;CH471063;DA773166;NM_153689 AAH36456;AAY24161;ADQ31601;BAC04749;EAW70190;NP_710156;Q8N8R5 Hs.471040 1658121;1734736;2129723;2185435 D2S1523E;RH45770;RH69327;SHGC-31000 FLJ38973 OTTHUMP00000205792;UPF0565 protein C2orf69;hypothetical protein LOC205327 protein-coding ENSG00000178074 HGNC:26799 08797 VALIDATED 2298744 C2orf71 chromosome 2 open reading frame 71 The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010] 2 2 2 p23.2 29128955 29141525 - 29284556 29297127 - 29061690 29074261 - 6480464;7240710;8554872;8699517 14702039;20125088;20301590;20398884;20398886;20811058;21412943;24780881;8889548 388939 A6NGG8 ABBA01045243;AC105398;AK092250;AMYH02003505;BM669582;CH471053;NG_021427;NM_001029883 A6NGG8;EAX00517;NP_001025054 Hs.354243 FLJ34931;RP54 OTTHUMP00000201019;uncharacterized protein C2orf71 APPROVED protein-coding ENSG00000179270 HGNC:34383 613425;613428 REVIEWED 2298736 C2orf74 chromosome 2 open reading frame 74 FOUND IN integral component of membrane (inferred); INTERACTS WITH cyclosporin A; methyl methanesulfonate; valproic acid 2 2 2 p15 61215846 61236014 + 61372221 61391964 + 61145088 61164829 + 6480464 12477932;21102463;21988832;22412388;23128233;24250222 339804 A8MZ97;C9JBF1 ABBA01075346;ABBA01075347;AC016747;AMYH02003919;BC014578;NM_001143959;NM_001143960;XM_005264287;XM_005264288;XM_005264289;XM_005264290 A8MZ97;NP_001137431;NP_001137432;XP_005264344;XP_005264345;XP_005264346;XP_005264347 Hs.140617 hypothetical protein LOC339804;uncharacterized protein C2orf74 protein-coding ENSG00000237651 HGNC:34439 VALIDATED 2298835 C2orf78 chromosome 2 open reading frame 78 ASSOCIATED WITH Melanoma (inferred) 2 2 2 p13.1 73862173 73875539 + 74011316 74044274 + 73784189 73817147 + 8554872 388960 A6NCI8 ABBA01075585;ABBA01075586;ABBA01075587;AC092653;AC136006;AK125975;AMYH02004076;AMYH02004077;AMYH02004078;AMYH02004079;AMYH02004080;NM_001080474;XM_005264302 A6NCI8;NP_001073943;XP_005264359 Hs.456833 COG5373;FLJ43987;hCG1989538 OTTHUMP00000202508;hypothetical protein LOC388960;uncharacterized protein C2orf78 protein-coding ENSG00000187833 HGNC:34349 PREDICTED 1606162 C2orf76 chromosome 2 open reading frame 76 INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; copper(2+) sulfate 2 2 2 q14.2 113386186 113450397 - 120059793 120124451 - 119301204 119366875 - 6480464 12477932;20205591;20379614;21890473;24250222 130355 C9JTA8;Q3KRA6 ABBA01045926;AC016736;AMYH02004646;BC047365;BC062434;BC105805;BC126395;BC126397;BC144012;BC144014;BC171737;CH471103;NM_001017927;XM_005263594;XM_005263595;XM_006712267 AAH47365;AAI05806;AAI26396;AAI26398;AAI44013;AAI71737;ADR82800;EAW95213;NP_001017927;Q3KRA6;XP_005263651;XP_005263652;XP_006712330 Hs.99488 1678093 RH48926 AIM29;MGC104437 OTTHUMP00000203619;OTTHUMP00000203620;OTTHUMP00000203621;OTTHUMP00000203622;UPF0538 protein C2orf76;hypothetical protein LOC130355 protein-coding ENSG00000186132 HGNC:27017 18547 PREDICTED 2298832 C2orf80 chromosome 2 open reading frame 80 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH trichostatin A 2 2 2 q34 202798308 202823009 - 209030071 209054969 - 208165347 208190245 - 6480464;8554872 12477932;20080650;22080834;24055526 389073 C9J2L1;C9J2S2;C9JAS9;C9JTX0;H7BZF5;H7C2Y3;Q0P641 ABBA01062701;ABBA01062702;ABBA01062703;ABBA01062704;AC016697;AMYH02005659;AW136505;BC035737;CH471063;DB541912;NM_001099334;XM_005246546;XM_005246547;XM_006712522 AAH35737;EAW70436;NP_001092804;Q0P641;XP_005246603;XP_005246604;XP_006712585 Hs.198416 GONDA1 OTTHUMP00000206606;OTTHUMP00000206607;OTTHUMP00000206674;gonad development associated 1;hypothetical protein LOC389073;uncharacterized protein C2orf80 protein-coding ENSG00000188674 HGNC:34352 615536 VALIDATED 2298820 C2orf70 chromosome 2 open reading frame 70 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus 2 2 2 p23.3 26629117 26646026 + 26785427 26802395 + 26562559 26579527 + 8554872 14702039 339778 A6NJV1;B8ZZ55;H7C0N2 ABBA01045184;AC015977;AC108070;AK091483;AMYH02003462;CH471053;NM_001105519;XM_005264286 A6NJV1;EAX00681;NP_001098989;XP_005264343 Hs.407083 1676618 RH99278 OTTHUMP00000203783;OTTHUMP00000214053;UPF0573 protein C2orf70;hypothetical protein LOC339778 protein-coding ENSG00000173557 HGNC:27938 PREDICTED 2298834 C2orf81 chromosome 2 open reading frame 81 INVOLVED IN regulation of transcription, DNA-templated (inferred) 2 2 2 p13.1 74472492 74476033 - 74641303 74644934 - 74414176 74417717 - 15815621 388963 A6NN90;E5RID8;E5RIL7;E5RIT9;E5RJQ4;G3XAA6 ABBA01075600;AC005041;AMYH02004090;BM045416;BX102034;CH471053;NM_001145054 A6NN90;EAW99682;EAW99683;NP_001138526 Hs.445377 1693472 SHGC-57623 hCG40743 OTTHUMP00000226132;Uncharacterized protein ENSP00000290390;hypothetical protein LOC388963;uncharacterized protein C2orf81 protein-coding ENSG00000159239 HGNC:34350 PREDICTED 1606085 C2orf82 chromosome 2 open reading frame 82 FOUND IN cell periphery (inferred); integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; paracetamol; quercetin 2 2 2 q37.1 227499270 227505383 + 233733724 233741111 + 232869014 232876404 + 6480464 12477932;12975309;23453885;23974872 389084 C9K0N5;H7C356;Q6UX34 ABBA01002006;AC016692;AMYH02005994;AY358535;BC035093;BC049848;BC130307;BC130309;CH471063;NM_206895;XM_005246548;XM_005246549 AAI30308;AAI30310;AAQ88899;EAW71021;EAW71022;EAW71023;NP_996778;Q6UX34;XP_005246605;XP_005246606 Hs.657509 1690125;1715601 RH120944;RH94178 MGC163179;MGC163181;UNQ830 ASCL830;OTTHUMP00000164373;OTTHUMP00000203465;hypothetical protein LOC389084;uncharacterized protein C2orf82 protein-coding ENSG00000182600 HGNC:33763 15620 PREDICTED 1603909 C2orf73 chromosome 2 open reading frame 73 INTERACTS WITH lead diacetate (ortholog) 2 2 2 p16.2 54398902 54427568 + 54558006 54588714 + 54330868 54381947 + 6480464 12477932;14702039;18654987;24250222 129852 B5MBY8;B7ZM12;C9J598;E7ENW1;F8WD05;H7C1Z5;Q8N5S3 ABBA01075252;AC092839;AC108929;AK097617;AMYH02003843;BC031669;BC126244;BC126246;BC144191;BC144192;CH471053;NM_001100396;XM_005264132;XM_005264133;XM_005264134;XM_006711933;XM_006711934;XM_006711935;XM_006711936 AAH31669;AAI26245;AAI26247;AAI44192;AAI44193;BAC05122;EAX00149;EAX00150;EAX00151;NP_001093866;Q8N5S3;XP_005264189;XP_005264190;XP_005264191;XP_006711996;XP_006711997;XP_006711998;XP_006711999 Hs.732626 1680294;1700410 RH103826;RH92103 FLJ40298 OTTHUMP00000200608;OTTHUMP00000200611;OTTHUMP00000201054;OTTHUMP00000213115;hypothetical protein LOC129852;uncharacterized protein C2orf73 protein-coding ENSG00000177994 HGNC:26861 13446 VALIDATED 1604331 C2orf83 chromosome 2 open reading frame 83 INVOLVED IN transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one (ortholog); lead diacetate (ortholog) 2 2 2 q36.3 222244328 222267570 - 228474806 228498036 - 227610090 227633320 - 6480464;8554872 11076863;11230166;12477932;14702039;15489336;16381901;22610502 56918 Q53S99 ABBA01050181;AC064853;AK055355;AL359944;AMYH02005922;BC131618;CH471063;CR749679;NM_001162483;NM_020161 AAI31619;AAX93156;CAB95774;CAH18470;CAL38026;CAL38151;EAW70873;EAW70874;NP_001155955;NP_064546;Q53S99 Hs.283092 OTTHUMP00000204101;OTTHUMP00000204102;folate transporter-like protein C2orf83 protein-coding ENSG00000042304 HGNC:25344 13208 VALIDATED 1601946 C2orf88 chromosome 2 open reading frame 88 ENCODES a protein that exhibits protein kinase A regulatory subunit binding (inferred); ASSOCIATED WITH Myostatin-related muscle hypertrophy (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH benzene; copper(2+) sulfate; cyclosporin A 2 2 2 q32.2 184597431 184663252 + 190744282 191068210 + 189879627 190203484 + 6480464;8554872 12477932;16189514;16303743;16344560;17207965;21988832;22344221;23115245;23455922;23996002 84281 C9JS57;H7BZ15;Q9BSF0 ABBA01062383;AC008122;AC010679;AC019178;AC073120;AC096650;AK075168;AK313395;AMYH02005434;BC005083;BU567236;BX648070;CH471058;DA247977;DA389238;NM_001042519;NM_001042520;NM_001042521;NM_032321;XM_005246905;XM_006712795 AAH05083;AAX93233;ADQ32431;BAG36193;EAX10878;EAX10879;NP_001035984;NP_001035985;NP_001035986;NP_115697;Q9BSF0;XP_005246962;XP_006712858 Hs.389311 1686520;1686738;1721457;2114428;2137539;2183731 G59581;RH69372;RH93597;RH94194;SHGC-35899;WIAF-2135 MGC13057 OTTHUMP00000205557;OTTHUMP00000205558;OTTHUMP00000205559;OTTHUMP00000205560;OTTHUMP00000205561;OTTHUMP00000205562;UPF0733 protein C2orf88;Uncharacterized protein FLJ90687;hypothetical protein LOC84281;smAKAP;small A-kinase anchoring protein;small membrane A-kinase anchor protein;small membrane AKAP protein-coding ENSG00000187699 HGNC:28191 14436 615117 VALIDATED 1343619 C3CER1 chromosome 3 common eliminated region 1 10610706;9408748 23739 HGNC:1320 1347639 C3orf14 chromosome 3 open reading frame 14 INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; benzo[a]pyrene 3 3 3 p14.2 62322488 62336413 + 62304648 62321888 + 62318973 62336213 + 737633;6480464 12477932 10931946;15489334;17207965;20379614 57415 C9JY17;Q9HBI5 ABBA01024329;AC092502;AF236158;AK310431;AK313915;AMYH02006929;BC017772;BE047745;BU568674;CH471055;DA615061;DA783189;NM_001291941;NM_001291942;NM_001291943;NM_020685;XM_005265338;XM_005265339;XM_005265340 AAG09750;AAH17772;ADQ32108;BAG36637;EAW65400;EAW65401;EAW65402;NP_001278870;NP_001278871;NP_001278872;NP_065736;Q9HBI5;XP_005265395;XP_005265396;XP_005265397 Hs.47166;Hs.594911 1660293;1779134 RH45851;SGC38115 HT021 OTTHUMP00000213295;OTTHUMP00000213296;OTTHUMP00000213297;OTTHUMP00000213298;hypothetical protein LOC57415;uncharacterized protein C3orf14 protein-coding ENSG00000114405 HGNC:25024 12819 VALIDATED 5688543 C2orf91 chromosome 2 open reading frame 91 2 2 2 p21 42002011 42020470 - 42162508 42180943 - 41935368 41953803 - 400950 Q6ZV80 ABBA01075055;AC013480;AC104654;AK124893;AMYH02003664;NM_001242815 BAC85983;NP_001229744;Q6ZV80 Hs.738713 1758397 SHGC-148242 uncharacterized protein C2orf91;uncharacterized protein LOC400950 protein-coding ENSG00000205086 HGNC:42966 VALIDATED 1343802 C3orf18 chromosome 3 open reading frame 18 FOUND IN integral component of membrane (inferred); INTERACTS WITH amiodarone; copper(2+) sulfate; hydrogen peroxide 3 3 3 p21.3 50568268 50581264 - 50595456 50608458 - 50558025 50571027 - 737633;6480464 12477932 15489334;16344560;17207965;20205591 51161 C9IYC4;F8WCC4;Q6ZP18;Q9UK00 AA716515;AA908974;ABBA01024543;ABBA01024544;AC096920;AF188706;AK124438;AK130227;AK308074;AK309486;AK311093;AK313128;AL833938;AMYH02006773;BC034766;CH471055;DA504094;DA535127;DB027651;DB166816;NM_001171740;NM_001171741;NM_001171743;NM_016210;XM_006713187 AAF01050;AAH34766;ADQ32861;BAC85307;BAG35948;BAG54038;CAD38793;EAW65122;EAW65123;EAW65124;NP_001165211;NP_001165212;NP_001165214;NP_057294;Q9UK00;XP_006713250 Hs.517860 1735090;1852720;2130188;2139522;2143493 A003M37;D3S2773E;D3S2903E;G16541;RH15919 G20 OTTHUMP00000210812;OTTHUMP00000210813;OTTHUMP00000210815;OTTHUMP00000210817;OTTHUMP00000210818;hypothetical protein LOC51161;uncharacterized protein C3orf18 protein-coding ENSG00000088543 HGNC:24837 16654 VALIDATED 1353843 C3AR1 complement component 3a receptor 1 ENCODES a protein that exhibits G-protein coupled receptor activity; INVOLVED IN positive regulation of cytosolic calcium ion concentration; PARTICIPATES IN coagulation cascade pathway; complement system pathway; Staphylococcus aureus infection pathway; ASSOCIATED WITH Asthma; Rhinitis; Lung Diseases (ortholog); FOUND IN integral component of membrane (inferred); integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH (S)-nicotine; 5-azacytidine; cytarabine 12 12 12 p13.31 9787991 9796026 - 8210919 8218955 - 8058323 8066359 - 1580863;5129690;5129559;5129512;5129702;5129564;5129560;5129561;5129686;5129688;5129681;6480464;6907045 15159277;15278436;15940127;16461429;17079327;17544263;20045013;20802484;21421909 10340761;10358194;10571060;10725738;11044372;11160252;11342658;11412308;12477932;12511407;12871936;15039137;15067069;15123239;15356170;15489334;16778800;17234193;17472841;17498719;18538384;18577758;19005416;19247692;19344414;20484595;21371235;21589858;21799898;22868393;22901903;23077507;23284683;24321396;8125298;8605247;8702752;8765043;8898085;9221749;9694514;9725198 719 A8K2H7;F5GZE6;Q16581 AB065870;ABBA01012236;AC006511;AK223388;AK290242;AK312458;AMYH02025987;AY268431;AY455929;BC020742;CH471116;NM_004054;U28488;U62027;Z73157 AAC50374;AAC50657;AAH20742;AAP23198;AAR13862;ABM82930;ABM86123;ABM87839;BAC06088;BAD97108;BAF82931;BAG35365;CAA97504;EAW88640;EAW88641;NP_004045;Q16581 Hs.591148 1795456;2132674;2139319;2184584 C3AR1_491;RH44757;STS-U28488;WI-18562 AZ3B;C3AR;C3a-R;HNFAG09 C3a anaphylatoxin chemotactic receptor;OTTHUMP00000239050;OTTHUMP00000239051;complement component 3 receptor 1 protein-coding ENSG00000171860 HGNC:1319 05581 605246 VALIDATED 1603560 C3orf22 chromosome 3 open reading frame 22 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (+)-catechin; aflatoxin B1; diazinon 3 3 3 q21.3 124693189 124702399 - 126245842 126277808 - 126526999 126558965 - 6480464;8554872 12477932;14702039;15489334 152065 B3KUS9;Q8N5N4 ABBA01016386;AC024558;AK097841;AMYH02007590;BC032025;CH471052;HC007152;NM_152533;XM_005247139;XM_005247140 AAH32025;BAG53541;CBH19381;EAW79358;NP_689746;Q8N5N4;XP_005247196;XP_005247197 Hs.178210 1683465 RH92341 MGC34728 OTTHUMP00000222592;hypothetical protein LOC152065;uncharacterized protein C3orf22 protein-coding ENSG00000180697 HGNC:28534 14585 PREDICTED 1343380 C3orf20 chromosome 3 open reading frame 20 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH atrazine; benzo[a]pyrene; hydrogen peroxide 3 3 3 p25.1 14654855 14752777 + 14716606 14814543 + 14675099 14773036 + 737633;6480464;8554872 12477932 11076863;11230166;11256614;15489334;15489336;16344560;16381901;20379614;21832049 84077 Q8ND61 ABBA01025153;ABBA01025154;AC090957;AK131481;AL136781;AL834386;AMYH02006322;AMYH02006323;BC030599;BC038406;BG718869;CH471055;DB064418;NM_001184957;NM_001184958;NM_032137;XM_006713341;XM_006713342;XM_006713343;XM_006713344 AAH30599;AAH38406;CAB66715;CAD39049;CAL37708;CAL37860;CAL38115;EAW64204;EAW64205;EAW64206;NP_001171886;NP_001171887;NP_115513;Q8ND61;XP_006713404;XP_006713405;XP_006713406;XP_006713407 Hs.661452 1775494;1956446;2164263;2185317 REN49088;RH16620;SHGC-33603;SHGC-76719 DKFZP434N1817 OTTHUMP00000208214;OTTHUMP00000208215;OTTHUMP00000208216;hypothetical protein LOC84077;uncharacterized protein C3orf20 protein-coding ENSG00000131379 HGNC:25320 12821 VALIDATED 735504 C3 complement component 3 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. People with C3 deficiency are susceptible to bacterial infection. [provided by RefSeq, Feb 2009] 19 19 19 p13.3-p13.2 6619402 6662926 - 6677846 6720662 - 6677835 6720651 - 1600604;1580863;1580273;2314030;2314031;5129507;5129562;5130153;5130170;1600605;5130169;5129517;5129694;5129513;5129519;5129524;5129564;5129550;1582136;5129502;5129514;5129516;5129537;5129681;5129536;5129538;5129563;5129508;1600478;5129523;5129535;5129539;5129540;1599509;5129484;5129520;5129492;5129504;5129512;5129500;4142862;5129509;5129542;5129543;5130163;5129525;5129501;5129505;5129554;6480464;6907045;7175513;7175514;7175516;7175543;7175544;7183082;7183083;7175542;7240710;7411735;7401280;7401252;7401271;7401277;7421527;7401262;7401263;7411715;7411736;7421524;7411625;7411689;7411688;7421518;7401276;7401253;7411624;7401269;7401272;7401268;7364995;7401274;7411622;7411628;4889484;7401273;7401249;7401259;7364947;7401275;7401278;7401279;7401250;7401265;7401257;8554872;8699517 10729746;10886251;10955930;11037838;11287758;11509581;11532096;11560858;11591733;11950907;12096683;12121667;12196286;12235218;14561876;14577867;15278436;15378355;15972516;16014897;16143328;16186675;16355111;16367929;16488421;16677633;16751365;16947020;16996480;17114852;17146472;17169032;17345707;17517971;17675493;17956621;17960140;17962462;17975205;17981193;18052971;18069416;18256172;18566738;18648551;19050293;19200691;19258923;19472039;19593977;19691975;19899988;20051658;20109314;20157618;20395963;20402389;20405;20510197;20589464;20802484;21139973;21408070;21421909;21467172;21502587;21571681;21678475;21888025;22004711;22103620;2212005;22174912;22300950;22320401;22863782;23118029;23549917;23588254;23685261;23747511;2783924;2784515;2803327;3253105;3339873;3826891;3875643;3923750;6342123;6610667;8746955 10078261;10079271;10085065;10358196;10382758;10432298;10608878;10610782;10622723;10882776;10946275;11058592;11073102;11086104;11342658;11367533;11387479;11513971;11684127;11705926;11773063;11785295;11803045;11813855;11854358;11884542;11896391;11939578;11979403;12006395;12165538;1238393;12477932;12511407;12540846;12645945;12679444;12754519;12761187;12816955;12878586;12893820;12942785;12967641;1323007;1350678;1401896;14527961;14563826;14639503;14662858;14702039;14760718;15033778;15090635;15187133;15199963;15241561;1531292;15342556;15381670;15383607;15489226;15590640;15648851;15713467;15713468;15749882;1577777;15810889;15833747;15872081;16148107;16148115;16177781;16199891;162484;16263699;16301317;16335952;16339538;16449793;16452172;16502470;16516157;16530040;16570073;16627066;16670774;16809564;16823297;16889542;16893076;1703437;17051150;17051152;17051160;17060630;17172439;1717583;17322907;17372315;17482181;17498719;17502296;17520688;17634448;17684013;17703412;17762737;17767156;17984207;18039528;18039777;18054386;18061265;18174230;18206145;18247123;18253759;1830068;18325906;18356838;18383369;18434316;18456336;18562232;18562603;18572187;18585783;18596911;1861080;18631248;18671285;18682851;18694577;18702682;18755462;18760301;18796626;18802120;18805911;18854167;18936151;18974840;19005416;19015224;19017934;19022911;19028820;19028829;19048105;19112495;19117936;19131662;19164292;19168221;19179465;19196712;19202148;19225544;19234341;19246358;19247692;19259132;19263529;19265162;19302245;19328844;19336475;19344414;19387462;19399715;19407382;19423540;19454698;19457998;19503104;19505474;19549636;19559392;19590060;19661236;19665237;19670317;19680263;19694644;19703145;19767107;1976733;19773279;19797206;19823576;19825847;19828715;19834535;19843088;19850835;19861685;19878567;19913121;19913840;19939777;19948975;20089077;20091675;20104494;20105190;20105310;20139276;20139773;20173020;20188594;20237496;20238042;20301541;20378178;20379614;20381870;20385819;20385826;20406964;20438785;20453728;20498262;20503287;20513133;20523265;20576771;20603037;20628086;20628624;20639865;20644161;20664795;20706769;20807366;20817881;20837143;20841369;20852386;20861866;20862287;20888482;20926033;20926148;20951140;21055811;21085669;21163532;21173647;21205667;21270401;21308746;21402993;21404895;21414106;21415311;21435440;21462136;21464960;21501302;21527715;21555552;21566112;21642543;21658310;21664558;21665990;21706294;21733505;21788512;21801245;21813769;21816153;21953030;21966368;21988832;22007489;22089112;22132894;22138144;22145905;22153860;22171262;22176838;22194611;22228414;22234447;22246034;22250080;22253322;22258234;22264230;22273503;22324951;22361228;22390383;22393059;22415003;22456601;22518841;22542119;22553783;22565852;22635230;22669319;22673887;22705344;22718507;22792353;22851413;22878256;22909298;22930722;22996269;23028341;23031360;23056509;23068452;23071281;23098807;23134230;23206327;23209669;23233260;23235303;23235567;23285141;23337555;23356914;23365660;23385359;23390291;23427180;23455636;23537682;23619360;23628799;23639844;23661701;23719603;23750785;23764154;23833239;2387584;23878142;23892798;23956345;23977229;23982842;24067430;24097068;24125410;24178974;24187101;24200836;24239583;24287422;24356554;24363825;24367091;24453474;24489446;24516199;24557084;24612979;2473125;24850720;2579379;2584723;279011;2824652;3052276;3260670;3279119;3421908;3488995;3546307;3871945;4062888;4097977;6175959;6203109;6912277;695691;7512600;7535292;7539791;7590866;7642209;7893437;7911492;7961791;8406564;8416818;8471312;8630395;8648130;8702752;8845016;8943712;9059512;9164946;9291131;9544576;9555951;9596584;9605165;9719152;9988761 718 M0QXZ3;M0QYC8;M0R0Q9;M0R1Q1;P01024;V9HWA9 ABBA01051470;ABBA01051471;ABBA01051472;ABBA01051473;ABBA01051474;AC008760;AI758500;AK094728;AK304071;AMYH02035360;AMYH02035361;AMYH02035362;AY513239;BC022897;BC063852;BC150179;BC150200;BC150299;BP201387;BP349355;CH471139;CQ985770;EU794602;J04763;K02765;KC493376;KC493377;M55658;M63423;NG_009557;NM_000064 AAA35722;AAA85332;AAI50180;AAI50201;AAR89906;ACJ13656;BAG64978;CAI46844;EAW69070;EAW69071;NP_000055;P01024 Hs.529053 1649693;1679283;1741127;2136247;2138189 GDB:177904;RH11718;RH45403;RH80210;SGC31874 AHUS5;ARMD9;ASP;C3a;C3b;CPAMD1;HEL-S-62p C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1;C3a anaphylatoxin;OTTHUMP00000197086;acylation-stimulating protein cleavage product;complement C3;complement component C3;complement component C3a;complement component C3b;epididymis secretory sperm binding protein Li 62p;prepro-C3 APPROVED protein-coding ENSG00000125730 HGNC:1318 00400 120700;611378;612925;613779 REVIEWED 1606145 C3orf30 chromosome 3 open reading frame 30 INTERACTS WITH (+)-pilocarpine (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); choline (ortholog) 3 3 3 q13.32 117273489 117278794 + 118864997 118879674 + 119146150 119151455 + 6480464 12477932;14702039;19821082 152405 H7C4V1;H7C564;H7C5E0;Q96M34;S4R404 ABBA01061587;AC083800;AK057421;AMYH02007495;BC130475;BC144197;CH471052;DW009752;NM_152539 AAI30476;AAI44198;BAB71478;EAW79578;NP_689752;Q96M34 Hs.730099 FLJ32859;TSCPA OTTHUMP00000214992;OTTHUMP00000214993;OTTHUMP00000214995;OTTHUMP00000214997;hypothetical protein LOC152405;uncharacterized protein C3orf30 protein-coding ENSG00000163424 HGNC:26553 08146 VALIDATED 1603406 C3orf27 chromosome 3 open reading frame 27 3 3 3 q21 126719455 126723541 - 128290843 128294929 - 128572000 128576086 - 15067727;21738480;9307271 23434 O15544 ABBA01020902;AC080005;AF008191;AF008192;AMYH02007622;CH471052;LN607989;NM_007354;NR_125802 AAB65247;AAB65248;AAI40212;AAI46514;EAW79310;NP_031380;O15544 Hs.194283 2219100 GR6__6661 GR6 OTTHUMP00000216237;putative GR6 protein ncrna HGNC:17099 13607 VALIDATED 1352471 C3orf17 chromosome 3 open reading frame 17 INVOLVED IN negative regulation of neuron differentiation (inferred); positive regulation of Notch signaling pathway (inferred); FOUND IN integral component of membrane (inferred); nucleus (inferred); INTERACTS WITH methotrexate; trichostatin A; valproic acid 3 3 3 q13.2 111129629 111146889 - 112721291 112738555 - 113002444 113019851 - 737633;6480464 12477932 14702039;15489334;16565220;19615732;19850743;20195357;21890473;21906983;23000965;23383273;24778252 25871 C9J9E3;E9PFF8;F2Z3E4;F8WBQ8;F8WC60;F8WDL7;Q6NW34 ABBA01061657;AC074044;AK024325;AK092546;AK293218;AK295165;AK295954;AK300811;AK301161;AK304022;AK304083;AL117573;AL537045;AMYH02007442;BC014673;BC056663;BC067743;BM152568;CH471052;CR749341;NM_015412;NR_027794;NR_027796;XM_005247273;XM_005247276;XM_005247278;XR_241481;XR_241482 AAH67743;ACE86517;ACE86712;ACE87196;ACE87397;BAB14885;BAG56757;BAG58177;BAG58735;BAG62467;BAG62751;BAG64937;BAG64990;CAB55998;CAH18194;EAW79648;EAW79649;EAW79650;EAW79651;NP_056227;Q6NW34;XP_005247330;XP_005247333;XP_005247335 Hs.591288 1644847;1660120;1665440;1678227;1685017;1760177;1764659;1770445;2133559;2141812;2171570;2179022 Cda1ac05;RH44330;RH46087;RH65022;RH92227;SHGC-132456;SHGC-148248;SHGC-32187;SHGC-33071;SHGC-77207;SHGC-77208;WI-13462 DKFZp434F2021;NET17 OTTHUMP00000214707;OTTHUMP00000214708;hypothetical protein LOC25871;uncharacterized protein C3orf17 protein-coding ENSG00000163608 HGNC:24496 08524 VALIDATED 1605242 C3orf33 chromosome 3 open reading frame 33 ENCODES a protein that exhibits hydrolase activity, acting on ester bonds (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of ERK1 and ERK2 cascade; regulation of sequence-specific DNA binding transcription factor activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; amiodarone 3 3 3 q25.31 153901052 153944745 - 155480401 155524076 - 155762612 155806287 - 6480464;8554872 12477932;14702039;15489334;18487146;19322201;20515784;20680465;21832049 285315 F8WCI5;F8WDI1;H7C4I0;Q6P1S2 ABBA01058854;AC104472;AF115515;AK055701;AK289890;AL832165;AMYH02007960;AMYH02007961;AMYH02007962;BC042198;BC064898;CH471052;NM_173657;XM_005247378;XM_005247379;XM_006713601 AAH42198;AAH64898;AAO06952;BAB70989;BAF82579;EAW78745;EAW78746;NP_775928;Q6P1S2;XP_005247435;XP_005247436;XP_006713664 Hs.350846 5014563;5015961;5022200;5022322;5037552 D11S2560;D15S1477;D8S2279;L17676;L18426 AC3-33;FLJ31139 AP-1 activity suppressor;OTTHUMP00000212995;hypothetical protein LOC285315;uncharacterized protein C3orf33 protein-coding ENSG00000174928 HGNC:26434 08095 PROVISIONAL 1602632 C3orf38 chromosome 3 open reading frame 38 INVOLVED IN apoptotic process (inferred); INTERACTS WITH formaldehyde; N-acetyl-1,4-benzoquinone imine; quercetin 3 3 3 p11.1 88952867 88961107 + 88198875 88207115 + 88149724 88157965 + 6480464 12477932;15489334;21139048;21177773;21906983;21988832;22505724 285237 D3DU39;E9PFZ1;Q5JPI3 ABBA01004634;AC128650;AK297719;AK313547;AL832398;AMYH02007220;BC016013;BC024188;CH471110;NM_173824;XM_005264745 AAH24188;ADZ15889;BAG36323;BAG60073;CAI46184;EAW68858;EAW68859;EAW68860;NP_776185;Q5JPI3;XP_005264802 Hs.476944;Hs.518099 1690920;5015861;5037552;7185938 D10S16;D8S2279;RH92935 FLJ54270;MGC26717 OTTHUMP00000208594;OTTHUMP00000214138;hypothetical protein LOC285237;uncharacterized protein C3orf38 protein-coding ENSG00000179021 HGNC:28384 14509 VALIDATED 1602072 C3orf49 chromosome 3 open reading frame 49 3 3 3 p14.1 63821801 63851073 + 63805041 63834312 + 63819365 63848636 + 12477932;15203218;15489334;24023788 132200 Q96BT1 ABBA01024315;AC104162;AMYH02006949;BC015210;CD636567;NR_026866 Q96BT1 Hs.506386 1653081 SHGC-77029 MGC17310 ncrna ENSG00000163632 HGNC:25190 VALIDATED 1602414 C3orf53 chromosome 3 open reading frame 53 p24.1 14702039 285322 Q8N290 AC109586;AK090970;XM_928239 BAC03560;Q8N290;XP_933332 Hs.376725 FLJ33651 protein-coding HGNC:26589 08162 1602212 C3orf36 chromosome 3 open reading frame 36 INTERACTS WITH methotrexate 3 3 3 q22.1 132072844 132074511 - 133646989 133648656 - 133928145 133929812 - 6480464 12477932;14702039;15489334;21832049 80111 Q3SXR2 ABBA01059163;AC080128;AK025826;AK225383;AMYH02007713;BC051274;BC064502;BC082257;BC104161;BC104162;CH471052;NM_025041 AAI04162;AAI04163;BAB15249;EAW79157;NP_079317;Q3SXR2 Hs.287691 5493499 UniSTS:486865 FLJ22173;MGC125760;MGC125761 hypothetical protein LOC80111;uncharacterized protein C3orf36 protein-coding ENSG00000221972 HGNC:26170 07981 VALIDATED 1603352 C3orf58 chromosome 3 open reading frame 58 INVOLVED IN cardiac muscle cell proliferation; regulation of phosphatidylinositol 3-kinase signaling; FOUND IN COPI vesicle coat; extracellular space; Golgi membrane; INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; paracetamol 3 3 3 q24 142113447 142133972 + 143690640 143711210 + 143971798 143992368 + 6480464 12477932;14702039;15489334;16344560;17207965;18651652;21264219;21283809;23784961;24269490;8889548 205428 B3KTD4;C9JY09;E7ET39;Q8NDZ4 ABBA01059010;ABBA01059011;AC117379;AK025119;AK095063;AK095161;AK095400;AK294020;AK315082;AL832839;AMYH02007831;BC037293;BM968874;CH471052;DA760601;DB067725;DC310234;DC310421;NM_001134470;NM_173552 AAH37293;ADQ31743;BAG37549;BAG52997;BAG53046;BAH11649;EAW78946;EAW78947;EAW78948;NP_001127942;NP_775823;Q8NDZ4 Hs.288954 DIA1;GoPro49;HASF;MGC33365 Golgi Protein of 49 kDa;Golgi protein GoPro49;OTTHUMP00000215115;OTTHUMP00000215116;UPF0672 protein C3orf58;deleted in autism 1;deleted in autism protein 1;hypoxia and AKT-induced stem cell factor;hypoxia and Akt induced stem cell factor protein-coding ENSG00000181744 HGNC:28490 14559 612200 VALIDATED 1605538 C3orf35 chromosome 3 open reading frame 35 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 3 3 3 p22.2 37374537 37410558 + 37426477 37476988 + 37384986 37435497 + 6480464;8554872 12477932;12543795;12771950;15208675;16187228;16344560 339883 Q8IVJ6;Q8IVJ8 ABBA01024844;AC092055;AC136290;AJ493599;AJ493600;AJ493601;AJ493602;AJ493603;AJ493604;AJ493605;AMYH02006559;BC100859;BC100860;BC100861;BC100862;BC112433;BC113895;BC132691;BC133024;BC144376;BC144377;CH471055;DB349441;KF457626;LN607971;LN607972;LN607973;LN607974;LN607975;LN607976;LN607977;NM_178339;NM_178342;XM_006713125 AAI32692;AAI33025;AAI44377;AAI44378;ADR83466;CAD42702;CAD42703;CAD42704;CAD42705;CAD42706;CAD42707;CAD42708;EAW64498;EAW64499;EAW64500;NP_848029;NP_848032;Q8IVJ8;XP_006713188 Hs.475945 1337145;1646653;1658936;1665131;2124768;2135949;2166967;5022651 A003B17;D11S2921;D3S2885E;D3S3623;D3S4247;NIB1520;SHGC-76828;WI-18659 APRG1 AP20 region protein 1;AP20 region protein1;APRG1 tumor suppressor candidate;OTTHUMP00000208938;OTTHUMP00000208939;OTTHUMP00000208941;OTTHUMP00000208942 protein-coding HGNC:24082 16502 611429 VALIDATED 1602415 C3orf56 chromosome 3 open reading frame 56 3 3 3 q21.3 125336528 125341579 + 126911974 126917028 + 127193131 127198185 + 12477932;14702039;24025145;24529757 285311 Q8N813 ABBA01020875;AC112482;AK097460;AMYH02007596;BC137154;BC137155;HC044771;NM_001007534 AAI37155;AAI37156;BAC05062;CBH30715;NP_001007535;Q8N813 Hs.591284 FLJ40141 putative uncharacterized protein C3orf56 protein-coding ENSG00000214324 HGNC:32481 16949 VALIDATED 1606226 C3orf52 chromosome 3 open reading frame 52 FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cisplatin 3 3 3 q13.2 110204266 110236149 + 111805175 111837073 + 112086335 112118226 + 6480464 12477932;14702039;15489334;15737651;16344560;19322201 79669 H7C5J7;Q5BVD1 AA215562;ABBA01061667;ABBA01061668;AC024887;AC128688;AK026839;AK298076;AK303588;AMYH02007437;AY830714;BC017064;BX104180;CH471052;DB159226;NM_001171747;NM_024616 AAH17064;AAX21411;ADZ16001;BAB15569;BAG60364;BAG64604;EAW79681;NP_001165218;NP_078892;Q5BVD1 Hs.434247 1658836;1675618 RH93661;SHGC-59894 FLJ23186;TTMP OTTHUMP00000214424;OTTHUMP00000214425;TPA induced trans-membrane protein;TPA-induced transmembrane protein;novel endoplasmic reticulum transmembrane protein protein-coding ENSG00000114529 HGNC:26255 08018 611956 VALIDATED 1605238 C3orf70 chromosome 3 open reading frame 70 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; silicon dioxide 3 3 3 q27.2 183242851 183317793 - 184795838 184870802 - 185078050 185153014 - 6480464;8554872 12477932;21042317 285382 A6NLC5 ABBA01058429;AC007934;AC025573;AMYH02008318;AMYH02008319;AMYH02008320;BC137178;BC137179;BC150565;CH471052;NM_001025266 A6NLC5;AAI37179;AAI37180;AAI50566;EAW78232;NP_001020437 Hs.380048 1650295;1715631;5020988;5037552 D22S958;D8S2279;RH119259;SHGC-77613 OTTHUMP00000210414;UPF0524 protein C3orf70;hypothetical protein LOC285382 protein-coding ENSG00000187068 HGNC:33731 18774 PREDICTED 1602042 C3orf62 chromosome 3 open reading frame 62 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 5-aza-2'-deoxycytidine; aflatoxin B1 3 3 3 p21.31 49269717 49277952 - 49306030 49314864 - 49268597 49277075 - 6480464;8554872 12477932;14702039;15489334;17207965;21832049;24722188 375341 C9JW57;H7BZX3;Q6ZUJ4 ABBA01024601;AC121247;AK056215;AK096799;AK125642;AMYH02006748;BC023586;BC032616;BC053629;BC061697;CH471055;NM_198562 AAH23586;AAH53629;AAH61697;ADQ32598;BAC86231;EAW64967;NP_940964;Q6ZUJ4 Hs.403828 1672246;1857714;2108983;2116986;2119674;2151369;2168751;2170375;5014019;5015961 D15S1477;D5S2354;RH18550;RH41918;RH45172;SGC32571;SHGC-31529;SHGC-57032;STS-U20657;USP4_8707 FLJ43654;MGC23381;MGC61663;MGC62079 OTTHUMP00000210683;OTTHUMP00000210721;hypothetical protein LOC375341;uncharacterized protein C3orf62 protein-coding HGNC:24771 13475 VALIDATED 2301260 C3orf73 chromosome 3 open reading frame 73 q21.3 15489334;16641997 729581 AC112484;XM_001130148;XM_001130701;XM_001714569 A8MYE2;XP_001130148;XP_001130701;XP_001714621 Hs.134807 protein-coding HGNC:34529 8552149 C3orf67-AS1 C3orf67 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 3 3 58810191 59004819 + 58824465 59019093 + 8554872 14702039 101929238 ABBA01024373;ABBA01024374;ABBA01024375;AC104300;AC104303;AK090895;AMYH02006892;AMYH02006893;AMYH02006894;HG495712;HG495715;NR_110820;XR_245232;XR_249366;XR_251370 Hs.683953 ncrna ENSG00000242428 HGNC:41063 VALIDATED 1605264 C3orf67 chromosome 3 open reading frame 67 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,4-dichloroaniline; diuron; trichostatin A 3 3 3 p14.2 58741188 59049142 - 58720199 59035804 - 58742006 59050050 - 6480464;8554872 12477932;20379614;24250222 200844 C9IYJ1;C9J3M8;C9J8V2;F5H9F7;F8WF72;H0Y8H3;H7C4Q4;H7C4R0;H7C586;H7C5H9;Q6ZVT6 ABBA01024373;ABBA01024374;ABBA01024375;AC104300;AC104303;AC119424;AK124111;AK124920;AK128200;AK296111;AMYH02006892;AMYH02006893;AMYH02006894;BC050317;BC075863;BC132815;BC140002;BC151142;CH471055;KF510847;NM_198463;XM_005264928;XM_005264929;XM_005264931;XM_006713013;XR_427258 AAH50317;AAI32816;AAI51143;BAC85775;BAC85994;BAG58860;EAW65383;EAW65384;EAW65385;EAW65386;EAW65387;EAW65388;EAW65389;EAW65390;EAW65391;NP_940865;Q6ZVT6;XP_005264985;XP_005264986;XP_005264988;XP_006713076 Hs.368434 1338562;1646986;1651097;1667863;1679289;1695798;1697350;1715241;1726589;1731293;5014051 D3S1450;D3S1766;D3S3040;D8S2278;G62527;RH102173;RH119871;RH93562;SHGC-14756;SHGC-31910;SHGC-82555 FLJ42117;FLJ42930;MGC48416 OTTHUMP00000214186;OTTHUMP00000214328;hypothetical protein LOC200844;uncharacterized protein C3orf67 protein-coding ENSG00000163689 HGNC:24763 13458 VALIDATED 5486719 C3orf80 chromosome 3 open reading frame 80 FOUND IN integral component of membrane (inferred) 3 3 3 q25.33 158364792 158367369 + 159943423 159946000 + 160225636 160228213 + 11181995;12477932 401097 F5H4A9 ABBA01058798;ABBA01058799;AC112641;AMYH02008017;BC031660;CH471052;NM_001168214 AAH31660;EAW78649;F5H4A9;NP_001161686 Hs.729755 hypothetical protein LOC401097;uncharacterized membrane protein C3orf80 protein-coding ENSG00000180044 HGNC:40048 VALIDATED 1603837 C3P1 complement component 3 precursor pseudogene ENCODES a protein that exhibits endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH paracetamol 19 19 19 p13.2 10047526 10080306 + 10152032 10184814 + 10041356 10074138 + 6480464 11752456;12477932;15060002;16712791 388503 Q6ZMU1 ABBA01029950;ABBA01029951;ABBA01029952;AC020931;AK131489;AMYH02035482;AMYH02035483;AMYH02035484;AW827199;CB162385;CH471106;DT932550;NR_027300 BAD18634;EAW84063;EAW84064;EAW84065;Q6ZMU1 Hs.655363 1716345;2154875 RH121350;SGC33001 CPLP pseudo ENSG00000167798 HGNC:34414 18382 VALIDATED 3234336 C3orf79 chromosome 3 open reading frame 79 3 3 3 q25.2 151619934 151638137 + 153202284 153220486 + 153484495 153502697 + 152118 P0CE67 ABBA01058876;AC078788;AF086445;AMYH02007929;AMYH02007930;CH471052;LN607990;NM_001101337 EAW78768;NP_001094807;P0CE67 Hs.58586 OTTHUMP00000216027;putative uncharacterized protein C3orf79 protein-coding ENSG00000237787 HGNC:37259 PREDICTED 7207322 C4B_2 complement component 4B (Chido blood group), copy 2 This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. This GeneID and its associated RefSeq record represent a second copy of C4B found on ALT_REF_LOCI_7. [provided by RefSeq, Jul 2011] 6 6 3282544 3303168 + 3283246 3303870 + 8554872 10207042;12224044;12226794;17503323;18032375;19505723;20795316;2431902;2883116;6546707 100293534 P0C0L5 ABBA01138727;ABBA01175231;BX679671;NM_001242823 NP_001229752 Hs.720022 1648514;1712246;1745799;1769516;2121053;2143466;5127416 G54031;GDB:642029;RH1519;RH36425;RH46798;SHGC-12566;SHGC-31623 complement C4-B-like protein-coding HGNC:42398 REVIEWED 7254257 C3orf84 chromosome 3 open reading frame 84 ASSOCIATED WITH Melanoma (inferred) 3 3 3 p21.31 49172338 49184925 - 49215069 49229291 - 49177636 49191858 - 8554872 646498 H3BNL1;H3BQU4 ABBA01024607;AC135506;AMYH02006745;NM_001080528 H3BNL1;NP_001073997 Hs.143880 uncharacterized protein C3orf84;uncharacterized protein LOC646498 protein-coding ENSG00000236980 HGNC:44666 VALIDATED 1342759 C4BPAP1 complement component 4 binding protein, alpha pseudogene 1 1 1 1 q32.2 180591424 180609988 + 207338840 207357406 + 207165495 207184061 + 2352933;8406448 727859 ABBA01048247;AL445493;AMYH02002559;NG_006475 1750629 SHGC-111938 C4BPAL1 APPROVED pseudo HGNC:1326 INFERRED 736103 C4BPA complement component 4 binding protein, alpha This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008] 1 1 1 q32 180529170 180570903 + 207277583 207318317 + 207104241 207144972 + 1580863;5129484;6480464;6907045 20510197 10383431;10744423;11441101;11705989;12100475;12135356;12477932;12893820;14607961;14718574;15179322;15188402;1534488;15489334;16330538;16335952;16819837;17225862;17548110;17579075;18029348;1833851;18406463;18424762;18556068;18715646;18842294;19076829;19155499;19344414;19417080;19423540;19494311;1989602;20022381;20059470;20212171;20237496;20406964;20438785;20532227;21262398;21659506;21915248;21988832;22333221;2237642;22732096;22925928;23274142;23390292;23508668;2352933;23750785;24760758;24779215;2590215;3017751;3378624;3840370;4033666;6222381;7592941;7772049;7806286;8406448;9089100;9628846 722 A6PVY5;F2Z2V7;P04003 ABBA01048247;AC247050;AK303793;AK303798;AK313164;AL445493;AMYH02002559;BC022312;BQ019292;CH471100;M31452;M62448;M62486;NG_029579;NM_000715;X02865;X04284;X04296;X07853;XM_005273251;XM_005273252 AAA36506;AAA36507;AAH22312;ABM82947;ABM86139;BAG35982;BAG64750;BAG64753;CAA26617;CAA27839;CAA30701;CAB51244;EAW93500;EAW93501;EAW93502;EAW93503;NP_000706;P04003;XP_005273308;XP_005273309 Hs.1012 1644105;1692290;1760241;2113122;2167273;2187286;2217088 AL034030;C4BPA_2902;D1S3036;D1S3704;SHGC-132542;SHGC-35696;SHGC-76272 C4BP;PRP C4b binding protein, alpha chain;C4b-binding protein alpha chain;OTTHUMP00000034376;complement component 4 binding protein, alpha chain;complement component 4-binding protein, alpha;proline-rich protein APPROVED protein-coding ENSG00000123838 HGNC:1325 00403 120830 REVIEWED 1605129 C4B complement component 4B (Chido blood group) This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33549596 33570219 + 31982572 32003195 + 32014795 32035418 + 5688253;5688257;5688260;5688264;5688263;5688259;5688256;5688255;6480464;6907045;8554872 17503323;19150565;20452682;21445879;21809649;21913394;21943165;22076784 10072631;10207042;10383431;10528211;10851272;1088823;10946278;11062289;11168010;11341920;11367523;11803045;12224044;12226794;12477932;12480675;12754519;12878586;12893820;12907438;14574404;14760718;14989716;15033778;15096498;15203218;15456488;15665772;15787745;15816885;15998580;16098595;16344560;16386506;16504674;16740002;16889542;16893076;16908004;16980082;1699796;17015733;1717583;17202363;17212707;17257223;17318071;17425651;17728371;17915330;17921792;17971360;17984207;18032375;18065805;18085389;18091514;18179706;18315707;18347532;18360261;18365397;18645500;18682851;18927458;18929826;19062096;19135723;19137635;19167759;19302245;19505723;1988494;19900552;19913121;20022265;20139276;20506482;20580617;20628086;20795316;21085669;21345967;21620080;21642539;21857912;21967755;22132894;22151770;22169613;22387014;22393059;22737222;22785613;22841245;22878256;2295627;23006730;23026593;23199209;23274969;23447068;23535732;23698598;23715124;23911397;23918728;2395880;23979690;24030736;24166212;2431902;2883116;3542363;3696167;3840370;3944109;6167582;6546707;6559257;6832377;6881182;6950384;6978711;7391573;7525470;7545960;7590866;7642209;7893437;7911492;8132574;8575831;8630395;8660986;8889548;9759862 721 B4DDH0;F5GXS0;P0C0L4;P0C0L5 ABBA01138727;AF019413;AF092085;AK304564;AL049547;AL645922;AL662849;AL929593;AMYH02013460;AMYH02013461;AMYH02013462;AMYH02013463;AMYH02013464;AMYH02013465;AY343497;AY379860;AY379861;AY379862;AY379863;AY379865;AY379867;AY379868;AY379869;AY379870;AY379871;AY379872;AY379873;AY379874;AY379875;AY379876;AY379877;AY379878;AY379879;AY379884;AY379886;AY379901;AY379903;AY379905;AY379907;AY379909;AY379910;AY379911;AY379924;AY379925;AY379926;AY379927;AY379959;BM672834;BQ960796;BX679671;CD624022;CR753845;DA395398;DA918359;K02404;NG_011639;NM_001002029;U24578;U77886;U77887 AAA59651;AAA99717;AAB67980;AAC98380;AAI72377;AAK49810;AAK49811;AAQ99144;AAR89087;AAR89088;AAR89089;AAR89090;AAR89092;AAR89094;AAR89095;AAR89096;AAR89097;AAR89098;AAR89099;AAR89100;AAR89101;AAR89102;AAR89103;AAR89104;AAR89105;AAR89106;AAR89111;AAR89113;AAR89128;AAR89129;AAR89131;AAR89133;AAR89135;AAR89137;AAR89138;AAR89151;AAR89152;AAR89153;AAR89154;AAR89163;BAG65356;CAB89302;NP_001002029;P0C0L5 Hs.534847;Hs.720022 1648514;1678425;1712246;1745799;1769516;1797462;2106223;2106659;2121053;2137309;2143466;2157927;5127416 CYP21A2_2362;G29213;G54031;GDB:642029;N3_3_2;RH11436;RH1519;RH36425;RH46798;SHGC-12566;SHGC-31623;STK19__5340;WI-7720 C4B1;C4B12;C4B2;C4B3;C4B5;C4BD;C4B_2;C4F;CH;CO4;CPAMD3;FLJ60561;MGC164979 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3;Chido form of C4;OTTHUMP00000029269;basic C4;basic complement C4;complement C4-B;complement C4B1a APPROVED protein-coding ENSG00000224389 HGNC:1324 00402;18631 120820;614379 REVIEWED 1345971 C4BPAP2 complement component 4 binding protein, alpha pseudogene 2 1 1 1 q32 180651731 180655135 + 207399143 207402547 + 207225798 207229202 + 7806286 724 ABBA01048247;AL596218;AMYH02002559;NG_002761;X81360;X81361;X81362 C4BPAL2 APPROVED pseudo HGNC:1327 INFERRED 1350864 C4A complement component 4A (Rodgers blood group) This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 6 6 6 p21.3 33549596 33570218 + 31949834 31970457 + 31982057 32002680 + 5688253;5688260;5688264;5688259;5688262;5688255;6480464;6907045;7240710;8699517 16879240;17503323;19150565;21809649;21913394;21943165 10072631;10092831;10529130;11168010;11367523;11773063;11803045;12133986;12224044;12226794;12367531;12477932;12480675;12754519;12878586;12894949;14574404;14760718;15039137;15166556;15174051;15199963;1573268;15787745;15794202;15998580;16098595;162484;16335952;16439442;16893076;16908004;1699796;17212707;17257223;17728371;17921792;17971360;18054386;18058064;18069935;18091514;18360261;18636124;19028829;19035512;19062096;19135723;19137635;19167759;19302245;19665237;1988494;19913121;19923011;20139276;20346360;20409594;20498262;20506482;20628086;20649895;20795316;20936779;21085669;21164027;21345967;21677994;21801245;21857912;21904924;22052466;22151770;22297669;22387014;22406254;22616691;22737222;22785613;22837109;22886582;22949645;23028341;23031360;2304899;23335107;23530559;23535732;23592783;23708385;23715124;23750785;23911397;23918728;2395880;2431902;2612324;2883116;3264881;3542363;3696167;3838531;3944109;6019133;6167582;6316164;6546707;6559257;6572000;6577433;6832377;6881182;6950384;6978711;7391573;7518568;7545960;8012361;8132574;8422437;8473511;8589688;8660986;9725198 720 B4DDH0;P0C0L4 AB209989;ABBA01038101;AI065121;AK293191;AK293364;AL645922;AL844853;AL929593;AMYH02013456;AMYH02013457;AMYH02013458;AMYH02013459;AMYH02013460;AY224378;AY379864;AY379866;AY379880;AY379881;AY379882;AY379883;AY379885;AY379887;AY379888;AY379889;AY379890;AY379891;AY379892;AY379893;AY379894;AY379895;AY379896;AY379897;AY379898;AY379899;AY379900;AY379902;AY379904;AY379906;AY379908;AY379912;AY379913;AY379914;AY379915;AY379916;AY379917;AY379918;AY379919;AY379920;AY379921;AY379922;AY379923;AY379928;AY379929;AY379930;AY379931;AY379932;AY379933;AY379934;AY379935;AY379960;AY379961;AY379962;AY379963;AY379964;AY379965;AY379966;AY379967;AY379968;AY379969;AY379970;AY379971;BC012372;BC016933;BC063289;BC144546;BC146673;BC146849;BC151204;BC171786;BX452374;CR753845;CR936924;K00830;K02403;L26261;M14823;M14824;M59815;M59816;NG_011638;NM_001252204;NM_007293;S58715;S81585;U07851;U07852;U07853;U07855;V00502;X77491;XM_006725947 AAA20121;AAA35617;AAA36229;AAA51855;AAA52292;AAB26211;AAB36122;AAB59537;AAB63418;AAB63419;AAB63420;AAB63422;AAH12372;AAH63289;AAI44547;AAI46674;AAI46850;AAI51205;AAI71786;AAP83249;AAR89091;AAR89093;AAR89107;AAR89108;AAR89109;AAR89110;AAR89112;AAR89114;AAR89115;AAR89116;AAR89117;AAR89118;AAR89119;AAR89120;AAR89121;AAR89122;AAR89123;AAR89124;AAR89125;AAR89126;AAR89127;AAR89130;AAR89132;AAR89134;AAR89136;AAR89139;AAR89140;AAR89141;AAR89142;AAR89143;AAR89144;AAR89145;AAR89146;AAR89147;AAR89148;AAR89149;AAR89150;AAR89155;AAR89156;AAR89157;AAR89158;AAR89159;AAR89160;AAR89161;AAR89162;AAR89164;AAR89165;AAR89166;AAR89167;AAR89168;AAR89169;AAR89170;AAR89171;AAR89172;AAR89173;AAR89174;AAR89175;BAE06071;BAG56731;BAH11494;CAA23760;CAA54627;NP_001239133;NP_009224;P0C0L4;XP_006726010 Hs.534847;Hs.720022 1648514;1712246;1745799;1769516;2106659;2121053;2143466;5127416 G54031;GDB:642029;RH1519;RH36425;RH46798;SHGC-12566;SHGC-31623;STK19__5340 C4;C4A2;C4A3;C4A4;C4A6;C4AD;C4S;CO4;CPAMD2;MGC164979;RG C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2;C4A anaphylatoxin;OTTHUMP00000029266;OTTHUMP00000216221;Rodgers form of C4;acidic C4;acidic complement C4;complement C4-A;complement component 4a APPROVED protein-coding ENSG00000244731 HGNC:1323 00401 120810;152700;614374;614380 REVIEWED 1352720 C4orf17 chromosome 4 open reading frame 17 4 4 4 q23 97729579 97760871 + 100432161 100463460 + 99511004 99542303 + 11230166;12477932;14702039;15489334;16169070;16344560;23319000;23455924;23568457;23936387;8125298 84103 D6RHU4;Q53FE4;Q8NA78 ABBA01063673;AC083902;AK093085;AK223345;AK314711;AL136838;AMYH02009797;AMYH02009798;AP001960;BC069805;BC074759;CH471057;CR533542;DB051883;NM_032149 AAH69805;AAH74759;BAC04048;BAD97065;BAG37256;CAB66772;CAG38573;EAX06102;EAX06103;NP_115525;Q53FE4 Hs.97501 1686814;1764301;1785040 RH98528;SHGC-147917;SHGC-154039 DKFZP434G072 OTTHUMP00000161654;OTTHUMP00000220331;hypothetical protein LOC84103;uncharacterized protein C4orf17 protein-coding ENSG00000138813 HGNC:25274 12825 VALIDATED 1602474 C4orf19 chromosome 4 open reading frame 19 INTERACTS WITH 17beta-estradiol; 3-methylcholanthrene; all-trans-retinoic acid 4 4 4 p14 37895413 38034606 + 37455552 37595132 + 37453930 37593510 + 6480464 12477932;14702039;15342556;16344560;20379614;20802204;8125298 55286 D6RFF1;Q8IY42 ABBA01074302;ABBA01074303;ABBA01074304;ABBA01074305;ABBA01074306;ABBA01074307;ABBA01074308;AC022463;AC027607;AI050941;AK001879;AK225192;AMYH02009027;AMYH02009028;BC037906;BP220791;CF995148;CH471069;DA684897;NM_001104629;NM_018302 AAH37906;BAA91958;EAW92882;EAW92883;NP_001098099;NP_060772;Q8IY42 Hs.107527 1716467;1750613;2118437;2132421;2137939;2141024 D4S2544E;D4S745;RH121413;SHGC-111906;SHGC-59841;SHGC-67963 FLJ11017 OTTHUMP00000158731;OTTHUMP00000158732;hypothetical protein LOC55286;uncharacterized protein C4orf19 protein-coding HGNC:25618 07725 VALIDATED 736875 C4BPB complement component 4 binding protein, beta This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008] 1 1 1 q32 180513773 180524901 + 207262210 207273338 + 207088867 207099993 + 1580863;6480464;6484113;6907045 12193728;12477932;12492479;14607961;14702039;14718574;15179322;15489334;15967823;16330538;16335952;16710414;17597997;18842294;19284503;19344414;19423540;19494311;20212171;20237496;20379614;20406964;20438785;20693287;21856004;21963094;2237642;22514678;2300577;23390292;24064215;2970465;7561113;8325877;8598458;9089100 725 E7EQT9;P20851;Q5VVQ7 ABBA01048247;AC247050;AK092427;AK293379;AK315137;AL445493;BC005378;BG568018;BM987840;CH471100;EF613556;H63461;L11245;L11246;M29964;NG_029386;NM_000716;NM_001017364;NM_001017365;NM_001017366;NM_001017367;U31765;XM_005273253;XM_005273254;XM_005273255 AAA35616;AAB59520;AAH05378;ABQ52216;ADZ15873;BAG56891;EAW93504;EAW93505;EAW93506;NP_000707;NP_001017364;NP_001017365;NP_001017366;NP_001017367;P20851;XP_005273310;XP_005273311;XP_005273312 Hs.99886 1687630;1742401;2163927;2169990;2180368;2186392;5019759;5037552;5106339;5121082 A009P34;D1S3277;D8S2279;G32746;GDB:196645;RH36383;RH46587;RH68537;RH69004;SHGC-76271 C4BP C4b binding protein, beta chain;C4b-binding protein beta chain;OTTHUMP00000034288;OTTHUMP00000034289;OTTHUMP00000034374;OTTHUMP00000034375;complement component 4 binding protein, beta chain;complement component 4-binding protein, beta APPROVED protein-coding ENSG00000123843 HGNC:1328 00404 120831 REVIEWED 1604791 C4orf29 chromosome 4 open reading frame 29 FOUND IN extracellular region (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cisplatin 4 4 4 q28.2 126267834 126333840 + 128886411 128957478 + 127965256 128036326 + 6480464 12477932;21890473;24250222 80167 B7WP89;D6RD85;D6RGX5;Q0P651 ABBA01044799;ABBA01044800;ABBA01044801;ABBA01044802;ABBA01044803;ABBA01044804;AC099340;AK024759;AMYH02010073;AMYH02010074;AMYH02010075;BC034253;BC058847;BC058898;BC075793;BC111400;BC128142;BC128143;BX500590;CH471056;NM_001039717;XM_005263238;XM_005263241;XM_005263242;XM_005263243;XM_006714318;XM_006714319;XM_006714320;XM_006714321;XM_006714322;XM_006714323;XM_006714324;XM_006714325 AAH34253;AAI28143;AAI28144;BAB14990;EAX05189;EAX05190;EAX05191;EAX05192;NP_001034806;Q0P651;XP_005263295;XP_005263298;XP_005263299;XP_005263300;XP_006714381;XP_006714382;XP_006714383;XP_006714384;XP_006714385;XP_006714386;XP_006714387;XP_006714388 Hs.445817 1644249;1661184;1700200;1776277;5015961;5016478 D15S1477;GDB:434012;RH103716;RH36511;RH46171;STS-H40321 FLJ21106;MGC149227;MGC149228 OTTHUMP00000164426;hypothetical protein LOC80167;uncharacterized protein C4orf29 protein-coding ENSG00000164074 HGNC:26111 07953 PREDICTED 1606274 C4orf27 chromosome 4 open reading frame 27 FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; cobalt dichloride 4 4 4 q33 167983601 168012093 - 170650619 170679093 - 169729468 169757942 - 6480464 11076863;11230166;11256614;12477932;14702039;15489336;16169070;16381901;16712791;19505873;20379614;21139048;22505724;24816145 54969 Q9NWY4 ABBA01070342;ABBA01070343;AC106878;AK000541;AK090742;AK124036;AL136673;AMYH02010482;BC010367;BM905677;CB141427;CH471056;DN990093;NM_017867 AAH10367;BAA91241;CAB66608;CAL37758;EAX04780;EAX04781;NP_060337;Q9NWY4 Hs.406756 5124063 RH41158 FLJ20534;FLJ33423;FLJ42042 OTTHUMP00000219418;UPF0609 protein C4orf27;hypothetical protein LOC54969 protein-coding ENSG00000056050 HGNC:26051 07924 VALIDATED 1604907 C4orf3 chromosome 4 open reading frame 3 FOUND IN integral component of membrane (inferred); INTERACTS WITH coumestrol; dioxygen; lead(0) 4 4 4 q26 117579164 117587192 - 120217574 120225600 - 119296419 119304445 - 6480464 12477932;15146197;16174453;16344560;17207965;20332099;24250222;8889548 401152 Q8WVX3 ABBA01044706;AC092656;AF075061;AK024537;AK025703;AMYH02009989;AY605045;BC017399;BU739784;CH471229;CN361054;DA353224;LN608008;NM_001001701;NM_001170330 AAH17399;AAT35812;ADQ32691;EAW73665;NP_001001701;NP_001163801;Q8WVX3 Hs.173705 1664849;1674210;2132898;2164525 SHGC-32100;SHGC-59293;SHGC-59810;SHGC-59853 HCV F-transactivated protein 1;OTTHUMP00000220063;OTTHUMP00000223700;hepatitis C virus F protein-transactivated protein 1;hypothetical protein LOC401152;uncharacterized protein C4orf3 APPROVED protein-coding ENSG00000164096 HGNC:19225 14223 VALIDATED 1604986 C4orf26 chromosome 4 open reading frame 26 Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012] 4 4 4 q21.1 73777392 73786055 + 76481258 76491103 + 75556048 75565893 + 8699517;8554872;7240710 12477932;22658654;22901946 152816 D6RFW7;Q17RF5 ABBA01063344;AC096759;AC247041;AK074237;AK172776;AK300227;AMYH02009490;BC061701;BC117342;BC144003;BC144005;BX377852;CH471057;HC006960;NG_032974;NM_001206981;NM_001257072;NM_178497;NR_046429;NR_046430;R32248 AAI17343;ADR82804;BAB85027;BAD18758;BAG61995;CBH19285;EAX05738;EAX05739;NP_001193910;NP_001244001;NP_848592;Q17RF5 Hs.24510 2123427;2128837;5037552 D8S2279;G16705;SHGC-50699 AI2A4;FLJ23657;FLJ23937;FLJ53097;MGC150951 OTTHUMP00000160597;OTTHUMP00000219249;hypothetical protein LOC152816;uncharacterized protein C4orf26 protein-coding ENSG00000174792 HGNC:26300 08040 614829;614832 REVIEWED 1606121 C4orf22 chromosome 4 open reading frame 22 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 4 4 4 q21.21 78550408 79177954 + 81256861 81884910 + 80335707 80963756 + 8554872 12477932;18519826;20379614;21832049;23251661;23824909 255119 E7EPK2;G5E9Y8;Q6V702 ABBA01063403;ABBA01063404;ABBA01063405;ABBA01063406;ABBA01063407;ABBA01063408;ABBA01063409;ABBA01063410;ABBA01063411;AC021127;AC093876;AC093883;AC098822;AC105917;AI650567;AK128642;AMYH02009565;AMYH02009566;AMYH02009567;AMYH02009568;AMYH02009569;AMYH02009570;AMYH02009571;AMYH02009572;AMYH02009573;AMYH02009574;AMYH02009575;AY349359;BC034296;CH471057;DB522959;KF457781;NM_001206997;NM_152770;XM_005262883;XM_006714169;XR_244623 AAH34296;AAQ56723;ABM84123;ABM84124;ABM87151;ABM87152;ABM87153;ABM87533;ABM87534;BAC87545;EAX05861;EAX05862;EAX05863;EAX05864;EAX05865;NP_001193926;NP_689983;Q6V702;XP_005262940;XP_006714232 Hs.527104 1662962;1688867;1710464;1725541;1737535;1751151;1755371;1762285;1774513;2122984;2164750 D4S1130;D4S2690;D4S3208;RH119169;RH94079;SHGC-105105;SHGC-142252;SHGC-146136;SHGC-51338;SHGC-86246;SHGC4-1672 MGC35043 OTTHUMP00000160797;OTTHUMP00000219240;hypothetical protein LOC255119;uncharacterized protein C4orf22 protein-coding ENSG00000197826 HGNC:28554 14597 VALIDATED 1606159 C4orf36 chromosome 4 open reading frame 36 INTERACTS WITH 3-methylcholanthrene; benzo[a]pyrene; copper(2+) sulfate 4 4 4 q21.3 85086805 85103009 - 87797358 87824820 - 86876205 86910583 - 6480464 12477932;14702039;15342556;15489334;20379614;22470424;23568457 132989 D6RAE1;D6RCP1;D6RF10;D6RGW9;Q96KX1 ABBA01063513;AC093827;AMYH02009662;BC016746;BC063410;BP289794;BX090513;CH471057;NM_144645;XM_005262756;XM_006714082;XM_006714083 AAH16746;EAX05970;NP_653246;Q96KX1;XP_005262813;XP_006714145;XP_006714146 Hs.339646 MGC26744 OTTHUMP00000161171;OTTHUMP00000219442;OTTHUMP00000219445;OTTHUMP00000219447;hypothetical protein LOC132989;uncharacterized protein C4orf36 protein-coding ENSG00000163633 HGNC:28386 14511 VALIDATED 1606723 C4orf32 chromosome 4 open reading frame 32 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; all-trans-retinoic acid 4 4 4 q25 110359983 110403664 + 113066553 113110237 + 112145397 112189081 + 6480464 12477932;14702039;18437351;19322201;19380854;20332099;21139048;21906983;21963094;23349771 132720 Q8N8J7 ABBA01063814;AC093663;AC109347;AI634637;AK096689;AMYH02009931;BC022534;BC041964;BI463956;CH471057;NM_152400 AAH22534;AAY40961;BAC04841;EAX06266;NP_689613;Q8N8J7 Hs.23439 1644452;1724937;2125262;2168628;2172618;2181379 D4S2449;RH119235;SHGC-18154;SHGC-36541;SHGC-50578;SHGC-60034 FLJ39370 OTTHUMP00000163750;uncharacterized protein C4orf32 protein-coding HGNC:26813 08252 VALIDATED 1606430 C4orf46 chromosome 4 open reading frame 46 This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] 4 4 4 q32.1 156928857 156934241 - 159587827 159593407 - 158666675 158672255 - 6480464;8554872 12477932;14702039;16303743;16344560;19322201;21832049;23602568;24250222;24816145;25059753;8889548 201725 D6RFF4;Q504U0 ABBA01070208;AC107219;AK027539;AK074948;AK311718;AMYH02010374;BC065017;BC094775;BI823282;BU688970;CH471056;CQ783770;DB289388;NG_033150;NM_001008393;NR_077234;NR_077235 AAH65017;AAH94775;BAG51339;BAG52038;CAF86853;EAX04855;NP_001008394;Q504U0 Hs.380920;Hs.735449 1688953;1775993;1807560;2048086;2048090;2104522;2141686;2162072;5113271 ECD04752;REN95180;REN95182;RH41930;RH93633;SHGC-33796;STS-T95868;STS-W61113;stSG608963 RCDG1 OTTHUMP00000220837;OTTHUMP00000221325;hypothetical protein LOC201725;renal cancer differentiation gene 1;uncharacterized protein C4orf46 protein-coding ENSG00000205208 HGNC:27320 17319 VALIDATED 1602179 C4orf45 chromosome 4 open reading frame 45 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH daunorubicin 4 4 4 q32.1 157155716 157297403 - 159814684 159956333 - 158893532 159035181 - 6480464;8554872 15342556;16344560;20379614 152940 Q96LM5 ABBA01070211;ABBA01070212;ABBA01070213;ABBA01070214;ABBA01070215;ABBA01070216;AC093700;AC109823;AK058100;AK307319;AMYH02010380;AMYH02010381;AMYH02010382;AMYH02010383;BP369394;CH471056;DB037602;KF457823;NM_152543 AAI72327;BAB71665;EAX04851;NP_689756;Q96LM5 Hs.415576 1684174;1684977;1714541;1761351;1770240;1785200;1855485;2154113;2172373;2185339 C027ZB9;RH119783;RH45922;SHGC-145362;SHGC-25153;SHGC-67962;SHGC-68047;SHGC-68119;SHGC-84316;STS-Z41140 FLJ25371 OTTHUMP00000220951;hypothetical protein LOC152940;uncharacterized protein C4orf45 protein-coding HGNC:26342 08058 VALIDATED 2298813 C4orf47 chromosome 4 open reading frame 47 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; dioxygen; ethyl methanesulfonate 4 4 4 q35.1 183676735 183698471 + 186347220 186370982 + 185426028 185449828 + 6480464;8554872 12477932;15489334;15809229;20379614 441054 A7E2U8;D6R9T4;D6RB10;D6RCA9 ABBA01070532;AC106897;AMYH02010662;AMYH02010663;AY947525;BC127739;BC141967;BC141968;BC150574;NM_001114357;XM_005263019;XM_006714223;XM_006714224;XM_006714225;XM_006714226 A7E2U8;AAI50575;AAX21786;NP_001107829;XP_005263076;XP_006714286;XP_006714287;XP_006714288;XP_006714289 Hs.549398 2145706;5094798 ATT077P;STS-H64141 OTTHUMP00000218242;UPF0602 protein;UPF0602 protein C4orf47;hypothetical protein LOC441054 protein-coding ENSG00000205129 HGNC:34346 PREDICTED 2301122 C4orf48 chromosome 4 open reading frame 48 FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; quercetin; valproic acid 4 4 4 p16.3 1955927 1957904 + 2043720 2045697 + 2041993 2043970 + 6480464 12477932;15809229;21287218;24250222 401115 Q5BLP8;X6RBU3 ABBA01029524;AI929674;AL132868;AMYH02008597;AW157771;AY947524;BC038466;BC047038;BC062790;BQ129383;CH471131;NM_001141936;NM_001168243 AAX21785;EAW82542;EAW82543;NP_001135408;NP_001161715;Q5BLP8 Hs.446474 1745935 G64299 CHR4_55 OTTHUMP00000205822;OTTHUMP00000205823;hypothetical protein LOC401115;neuropeptide-like protein C4orf48 protein-coding ENSG00000243449 HGNC:34437 614690 VALIDATED 1602802 C4orf50 chromosome 4 open reading frame 50 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 4 p16.2 5858375 5889687 - 5899318 5992175 - 5897591 5990448 - 8554872 12477932;20379614;23720494 389197 E9PNW5;Q6ZRC1 ABBA01008268;ABBA01008269;AC092442;AC105915;AC109593;AK128339;AMYH02008659;AMYH02008660;BC140710;XM_003118524;XM_003119922;XM_003960335 AAI40711;BAC87391;Q6ZRC1;XP_003118572;XP_003119970;XP_003960384 Hs.479065 2121648;2143697;2164255 SHGC-24741;SHGC-59715;STS-Z40860 FLJ46481 OTTHUMP00000195600;hypothetical protein LOC389197;uncharacterized protein C4orf50 protein-coding HGNC:33766 13538 MODEL 2974931 C4orf51 chromosome 4 open reading frame 51 4 4 4 q31.21 143928891 143981824 + 146601356 146653949 + 145680121 145754277 + 646603 C9J302;H0Y9W7 ABBA01070034;ABBA01070035;ABBA01070036;ABBA01070037;AC093864;AC107212;AMYH02010258;AMYH02010259;NM_001080531;XM_006714289 C9J302;NP_001074000;XP_006714352 Hs.452865 1763465 SHGC-147171 OTTHUMP00000220285;uncharacterized protein C4orf51 protein-coding ENSG00000237136 HGNC:37264 INFERRED 1350555 C4orf6 chromosome 4 open reading frame 6 This gene is expressed in neuroblastoma; however, the function of this gene is not yet determined. [provided by RefSeq, Jul 2008] 4 4 4 p16.2 5424543 5427188 + 5526883 5529528 + 5525156 5527801 + 6480464 12477932;15489334;18454448;8889548;9016955 10141 H0Y9I1;Q99440 ABBA01008259;AC004664;AMYH02008654;BC117444;BC117446;BM978917;BX094519;CH471131;D82070;NM_005750 AAI17445;AAI17447;ADR83316;BAA11534;EAW82415;NP_005741;Q99440 Hs.177972 2139182 RH68303 aC1 OTTHUMP00000155146;OTTHUMP00000217284;expressed in neuroblastoma;uncharacterized protein C4orf6 APPROVED protein-coding ENSG00000082929 HGNC:13716 12826 REVIEWED 1601935 C4orf33 chromosome 4 open reading frame 33 INTERACTS WITH 17beta-estradiol; aflatoxin B1; cyclosporin A 4 4 4 q28.2 127396845 127415860 + 130014829 130034487 + 129093674 129113332 + 6480464 12477932;14702039;17567985;18187620 132321 D6RD26;D6RIS3;D6RIT3;Q8N1A6 ABBA01044830;AC093826;AK091022;AK309229;AMYH02010096;BC016358;BC032582;BE566349;BP871612;BQ549846;BU783470;BX538164;CH471056;CN483524;NM_001099783;NM_173487;XM_005262734;XM_005262735;XM_005262736;XM_006714080 AAH16358;AAH32582;BAC03568;CAD98044;EAX05161;EAX05162;EAX05163;EAX05164;EAX05165;EAX05166;NP_001093253;NP_775758;Q8N1A6;XP_005262791;XP_005262792;XP_005262793;XP_006714143 Hs.567679 1654948;1715143;2127735 D4S2553E;RH119524;SHGC-32420 FLJ33703 OTTHUMP00000164486;OTTHUMP00000220026;OTTHUMP00000220994;UPF0462 protein C4orf33;hypothetical protein LOC132321 protein-coding ENSG00000151470 HGNC:27025 14049 VALIDATED 1343214 C5orf10 chromosome 5 open reading frame 10 170747 HGNC:17703 735934 C5 complement component 5 The protein encoded by this gene is the fifth component of complement, which plays an important role in inflammatory and cell killing processes. This protein is comprised of alpha and beta polypeptide chains that are linked by a disulfide bridge. An activation peptide, C5a, which is an anaphylatoxin that possesses potent spasmogenic and chemotactic activity, is derived from the alpha polypeptide via cleavage with a convertase. The C5b macromolecular cleavage product can form a complex with the C6 complement component, and this complex is the basis for formation of the membrane attack complex, which includes additional complement components. Mutations in this gene cause complement component 5 deficiency, a disease where patients show a propensity for severe recurrent infections. Defects in this gene have also been linked to a susceptibility to liver fibrosis and to rheumatoid arthritis. [provided by RefSeq, Jul 2008] 9 9 9 q33-q34 94363035 94461011 - 123714613 123812554 - 120952335 121050276 - 1600637;1600651;1600652;1600655;1600599;1580863;1600658;1600665;1600666;1600592;1600597;5129512;5130153;5130158;5130162;5130159;5130160;5129681;5130180;5130161;5129688;5130175;5129705;5130170;5130154;5130150;5129706;5130168;5129707;6480464;6907045;7240710;7411733;7411626;8554872;8699517 10188960;10486240;10516626;10973279;11136932;11292607;11422211;11591795;12355496;14688199;15158333;15278436;15995705;16849499;17079327;17975174;18648551;20143644;20500690;20802484;20975959;23067403;2612053;3264125;3540828;3631740;3826891;3985125;7814608;9631876 10352266;106884;10820279;11367533;11752456;11939578;12477932;12488432;12878586;12881318;12937147;1387399;14556080;14566334;14662858;15383587;15488949;15550394;15585680;15598652;15768031;15778377;15879120;16335952;16452172;16670089;16823297;16879222;17023413;17322907;17428459;17482181;17498719;17505301;17533009;17634448;17644516;17703412;17804836;17880261;18039528;18240029;18300128;18411281;1847994;18576341;18644651;18714034;18759306;18953960;18974840;19028820;19056867;19110536;19116907;19131662;19162005;19180477;19225544;19230171;19247692;19258923;19263529;19265162;19324972;19336421;19344414;19375167;19401279;19414197;19416238;19423540;19479237;19503088;19559392;19565500;19674979;19729601;19741008;19843088;1984448;19864026;19902201;19909405;19913121;19918040;19948975;1996961;20022638;20030635;20049410;20109314;20124699;20133685;20205706;20219786;20233754;20237496;20353580;20406964;20424189;20438785;20444755;20453842;20479942;20498205;20503287;20536507;20545943;20591742;20603037;20628086;20797713;20813982;20822712;20880552;20962850;21393613;21890473;21926466;22244896;22258234;22284611;22308306;22452399;22496247;22500023;22528500;22802338;22812419;22820624;23028051;23071133;23235303;23321589;23333304;23371790;23401592;23602531;23662819;23792503;23833239;24060963;24390342;24516199;24521109;24554772;24802103;2579066;2730871;2784981;2808363;3052276;3365401;3408713;3624872;690134;7649993;7661861;7730648;7835913;7911492;8175701;8630395;8702752;8759757;8889548;8898085;9007977;9188742;9218605;9553099;9590258 727 P01031 AB209031;ABBA01016235;ABBA01016236;ABBA01016237;ABBA01016238;ABBA01016239;AC006430;AK310774;AK310780;AMYH02021575;AMYH02021576;AV682721;BC022299;BC113738;BC113740;BG533927;CB250401;CH471090;DQ400449;M57729;M65134;NG_007364;NM_001735;T82068 AAA51856;AAA51925;AAB35171;AAI13739;AAI13741;ABD48959;BAD92268;EAW87480;NP_001726;P01031 Hs.494997 1657620;1795206;1851945;1852909;2186007;2217090 C5_001;C5_3095;D9S2050;G29157;SHGC-52622;WI-12734 C5D;C5a;C5b;CPAMD4;ECLZB;FLJ17816;FLJ17822;MGC142298 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4;C5a anaphylatoxin;OTTHUMP00000022001;anaphylatoxin C5a analog;complement C5;prepro-C5 APPROVED protein-coding ENSG00000106804 HGNC:1331 00405 120900;609536;615749 REVIEWED 1350810 C5AR1 complement component 5a receptor 1 ENCODES a protein that exhibits C5a anaphylatoxin receptor activity; complement component C5a receptor activity; INVOLVED IN complement component C5a signaling pathway; mRNA transcription from RNA polymerase II promoter; positive regulation of epithelial cell proliferation; PARTICIPATES IN coagulation cascade pathway; complement system pathway; Staphylococcus aureus infection pathway; ASSOCIATED WITH Alzheimer Disease; Asthma; Pulmonary Disease, Chronic Obstructive; FOUND IN apical part of cell; basolateral plasma membrane; INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; 2-naphthylamine 19 19 19 q13.3-q13.4 44616992 44629218 + 47813104 47825327 + 47309847 47322070 + 1580863;5130168;5130169;5129704;5130170;5129559;5129560;5130177;5130166;5129564;1600652;5129681;5129561;5129702;1600597;5130167;5130165;5130180;5130176;6480464;6907045;7411625;8554872 10516626;11292607;11422211;12759460;12897064;14718840;15158333;15159277;15940127;16511606;17544263;18648551;19050293;19926870;20802484;21421909;23118029;5129564 10352266;10597774;10963136;11342590;11705397;11733378;11773063;12091343;12453150;12464600;12477932;12600272;12651630;12794141;14570896;15039137;15128829;15144465;15278436;15485893;15489334;15550394;15768031;15944400;1612600;16301808;16341674;16778800;16879222;17023413;17068344;17090530;17135254;17199736;17234193;17322907;17724165;17804836;18187666;18240029;1847994;18538384;18753257;18772131;19005416;19251703;19308263;19324972;19333232;19344414;19423540;19464229;19657723;19789190;19864971;20044484;2007135;20406964;20438785;20473571;20484595;20500690;21292772;21613290;21628869;21963094;22187344;22244896;22441801;22496247;22608366;22960554;23041570;23268185;23287562;23346183;23394121;23402022;23479227;23684309;23706417;23874603;24043889;24192237;24265019;24446515;2541200;7521884;7642584;7649993;7962171;8383526;8573284;8702752;8759762;8779720;9553099;9590258 728 M0QZK7;P21730 ABBA01041024;ABBA01041025;AC099491;AMYH02036259;AY221091;BC008982;BE042476;BI916506;BM830753;BT007358;CH471126;M62505;NM_001736;S56557;X57250;X58674;XM_005259190 AAA62831;AAD14919;AAH08982;AAO65969;AAP36022;ABM82683;ABM85866;CAA40530;CAB37830;EAW57470;EAW57471;NP_001727;P21730;XP_005259247 Hs.2161 1741855;1795204 C5R1_STS1;GDB:185765 C5A;C5AR;C5R1;C5a-R;CD88 C5a anaphylatoxin chemotactic receptor;C5a anaphylatoxin chemotactic receptor 1;C5a anaphylatoxin receptor;C5a ligand;complement component 5 receptor 1;complement component 5 receptor 1 (c5a ligand) protein-coding ENSG00000197405 HGNC:1338 00224 113995 VALIDATED 1354173 C5AR2 complement component 5a receptor 2 This gene encodes a G-protein coupled receptor 1 family member involved in the complement system of the innate immune response. Unlike classical G-protein coupled receptors, the encoded protein does not associate with intracellular G-proteins. It may instead modulate signal transduction through the beta-arrestin pathway, and may alternatively act as a decoy receptor. This gene may be involved in coronary artery disease and in the pathogenesis of sepsis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 19 19 19 q13.33 44644255 44649165 + 47835404 47845272 + 47332147 47342015 + 1580863;6480464;8554872 11090875;11165367;11773063;12477932;12540846;14570896;15342556;15489334;15634936;15833747;16204243;16344560;17068344;17158873;17322907;19100624;19615750;19767107;20044484;21630250;21698200;22180093;22187344;22194190;22441801;22496247;22812419;22960554;23239822;23394121;23460866;23785491;24073849;24078164 27202 Q6NWR0;Q9P296 AB038237;ABBA01041025;ABBA01041026;AC008754;AC099491;AF317655;AK313994;AMYH02036259;AY268430;BC067477;BC067478;BC067479;BC067480;BP370117;CH471126;CS173027;DA673976;KF456591;NM_001271749;NM_001271750;NM_018485 AAH67477;AAH67478;AAH67479;AAH67480;AAK12640;AAP23197;BAA95414;BAG36706;CAJ33695;EAW57472;NP_001258678;NP_001258679;NP_060955;Q9P296 Hs.534412 1797656 GPR77_2341 C5L2;GPF77;GPR77 C5a anaphylatoxin chemotactic receptor 2;C5a anaphylatoxin chemotactic receptor C5L2;G protein-coupled receptor 77;G protein-coupled receptor C5L2;G-protein coupled receptor 77 APPROVED protein-coding ENSG00000134830 HGNC:4527 17072 609949 REVIEWED 1606242 C5orf23 chromosome 5 open reading frame 23 5 5 p13.3 32670577 32673451 + 32788945 32791819 + 11256614;12477932;14702039;15489334;19570815;19913121;20628086 79614 AC026703;AK024116;BC022250;CH471118;NM_024563 AAH22250;BAB14832;EAX10800;NP_078839;Q9H7Z1 Hs.13528 FLJ14054 hypothetical protein LOC79614 protein-coding HGNC:25861 08593 1321206 C5orf15 chromosome 5 open reading frame 15 FOUND IN integral component of membrane (inferred); INTERACTS WITH paracetamol; vincaleukoblastine; aflatoxin B1 (ortholog) 5 5 5 q31.1 129414883 129428091 - 133291198 133304406 - 133955507 133968715 - 6480464 12477932;12752121;14702039;15342556;15489334;16303743;18951430;19322201;21139048;21832049;21890473;21906983;21963094;21987572;22505724;23000965;24529757;8619474;8889548;9110174 56951 B4DPV8;Q8NC54 ABBA01068770;AC025177;AF035313;AF226055;AK074963;AK298515;AK315362;AMYH02012234;AMYH02012235;AMYH02012236;AY157581;BC020875;BM681428;BP245947;CH471062;CS300550;NM_020199 AAF86955;AAH20875;AAO13165;ABM82948;ABM86140;BAC11319;BAG37757;BAG60720;CAK32214;EAW62287;EAW62288;NP_064584;Q8NC54 Hs.744034 2128802;2133865;5092736 A005V24;G32296;RH35974 HTGN29;KCT2 OTTHUMP00000159392;keratinocyte-associated transmembrane protein 2;keratinocytes associated transmembrane protein 2 protein-coding ENSG00000113583 HGNC:20656 12829 VALIDATED 1605291 C5orf24 chromosome 5 open reading frame 24 INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; hydrogen peroxide 5 5 5 q31.1 130309065 130323730 + 134181370 134195425 + 134845680 134859735 + 6480464 12477932;14702039;16344560;17207965;21890473;23000965;24250222 134553 H0YAE0;Q7Z6I8 ABBA01068736;AC006077;AF085880;AJ437658;AK094881;AMYH02012253;AV707506;BC045567;BC053677;BX640771;BX648529;CH471062;DA433671;DA760705;NM_001135586;NM_001300894;NM_152409;XM_005271889;XM_005271890 AAH53677;ADQ32595;BAC04448;CAD26900;EAW62234;EAW62235;EAW62236;NP_001129058;NP_001287823;NP_689622;Q7Z6I8;XP_005271946;XP_005271947 Hs.708536 1699608;1785664;2116355;2175101;5091871 A007F30;RH103405;RH47430;SHGC-64770;STS-N26241 FLJ37562 OTTHUMP00000159384;OTTHUMP00000223106;OTTHUMP00000223108;OTTHUMP00000223109;UPF0461 protein C5orf24;hypothetical protein LOC134553 protein-coding ENSG00000181904 HGNC:26746 08226 VALIDATED 7246716 C5orf17 chromosome 5 open reading frame 17 INTERACTS WITH paracetamol 5 p14.2 23951673 23980095 + 6480464 14702039;22379092 439936 Q8NAS9 AC026784;AC108093;AK092155;BI198197;BQ950913;DQ323997;XR_132502;XR_133395;XR_171491 ABC88599;Q8NAS9 Hs.638078 protein-coding HGNC:26630 1605070 C5orf22 chromosome 5 open reading frame 22 INTERACTS WITH etoposide; methyl methanesulfonate; trichostatin A 5 5 5 p13.3 31412843 31435644 + 31532373 31555165 + 31532266 31555058 + 6480464 12477932;14702039;16189514;16344560;19322201;21139048;21890473;21906983;21963094;22053931;24654937;8619474;8889548;9110174 55322 B4DR92;E5RFG1;E5RHP8;Q49AR2 ABBA01066717;AC022417;AF038176;AF085882;AI300780;AK002055;AK074385;AK299156;AL834427;AMYH02011113;AV710784;BC021215;BC032845;BM683466;CH471118;DA783320;DC404356;NM_018356;XM_005248319;XM_006714479;XM_006714480;XR_241704 AAH21215;AAH32845;BAA92060;BAG61204;CAD39088;EAX10771;EAX10772;EAX10773;EAX10774;NP_060826;Q49AR2;XP_005248376;XP_006714542;XP_006714543 Hs.519246 1654744;1739643;2127965;2176814;5095034 C5orf22;D5S1928E;G31097;RH36313;RH79023 DKFZp667N066;FLJ11193;FLJ23805;MGC33010 OTTHUMP00000161701;UPF0489 protein C5orf22;hypothetical protein LOC55322 protein-coding ENSG00000082213 HGNC:25639 07740 VALIDATED 1602449 C5orf30 chromosome 5 open reading frame 30 INVOLVED IN cilium morphogenesis (ortholog); FOUND IN ciliary transition zone; cytoplasm; INTERACTS WITH (-)-demecolcine; aflatoxin B1; all-trans-retinoic acid 5 5 5 q21.1 98542288 98562209 + 102594442 102614361 + 103258741 103278660 + 6480464 12477932;14702039;19060904;19322201;20453842;21988832;22085962;23817893;24390342;8619474;9110174 90355 Q96GV9 ABBA01069145;AC011362;AF038182;AK058020;AK090558;AMYH02011881;BC009203;CH471086;NM_033211;XM_005272123;XM_005272125 AAH09203;ADZ15830;BAC03478;EAW49075;NP_149988;Q96GV9;XP_005272180;XP_005272182 Hs.482976 1699666;1854441;2115251;2173992;2173994;2173996;2173998 D5S1572E;RH103437;RH36330;RH47357;RH47369;SGC34527;WI-22600 FLJ25291 OTTHUMP00000158932;OTTHUMP00000222713;OTTHUMP00000222714;UNC119-binding protein C5orf30;UPF0684 protein C5orf30;hypothetical protein LOC90355 protein-coding ENSG00000181751 HGNC:25052 12383 PROVISIONAL 1601916 C5orf34 chromosome 5 open reading frame 34 INTERACTS WITH 1-nitropyrene; aflatoxin B1; atrazine 5 5 5 p12 43377936 43406275 - 43486803 43515273 - 43486701 43515445 - 6480464 12477932;14702039;21906983;21963094;21987572 375444 E9PBC3;H0YAD0;Q96MH7 ABBA01024257;AC025457;AC114956;AK056925;AK303336;AMYH02011247;AW002049;BC036867;CH471119;DB453004;KF457895;KF459895;KF459900;NM_198566;XM_006714473 AAH36867;BAB71311;BAG64399;EAW56065;NP_940968;Q96MH7;XP_006714536 Hs.661641;Hs.733375 FLJ32363;MGC46448 OTTHUMP00000161802;hypothetical protein LOC375444;uncharacterized protein C5orf34 protein-coding ENSG00000172244 HGNC:24738 13407 VALIDATED 1605053 C5orf28 chromosome 5 open reading frame 28 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenous acid; benzo[a]pyrene 5 5 5 p12 43335476 43375118 - 43444354 43484171 - 43444252 43484146 - 6480464 12477932;14702039;15489334;16344560;21832049 64417 D6RAV6;E9PBX6;Q0VDI3;Q6GMT5 ABBA01024257;AC025457;AK025310;AK225220;AK315466;AL137306;AMYH02011244;AMYH02011245;AMYH02011246;AMYH02011247;BC013351;BC063832;BC073852;BC119658;BC119659;CH471119;DA028175;DA035926;NM_022483;XM_005248333;XM_005248334;XM_005248335;XM_005248336;XM_006714485;XM_006714486 AAH13351;AAH63832;AAH73852;AAI19659;AAI19660;BAB15108;BAG37853;EAW56061;EAW56062;EAW56063;EAW56064;NP_071928;Q0VDI3;XP_005248390;XP_005248391;XP_005248392;XP_005248393;XP_006714548;XP_006714549 Hs.732093 1656420;1850443;1852765;5024039;5037552;5119219 D16S325;D5S1925E;D8S2279;G30173;RH46937;SHGC-64113 FLJ21657;MGC149524;MGC90226 OTTHUMP00000161801;OTTHUMP00000221630;OTTHUMP00000221631;OTTHUMP00000221633;transmembrane protein C5orf28 protein-coding ENSG00000151881 HGNC:26139 07965 VALIDATED 1606695 C5orf38 chromosome 5 open reading frame 38 FOUND IN extracellular region (inferred) 5 5 5 p15.33 2784111 2787360 + 2752058 2755511 + 2751944 2755397 + 12477932;16515847;16750006 153571 B7ZL86;D6RBL9;Q86SI9 ABBA01010210;ABBA01010211;AC091891;AMYH02010780;AY249324;AY249325;BC101608;BC101634;BC143638;BC143639;BC143640;BC171731;BX090247;CH471102;NM_001294337;NM_178569;NR_122125;NR_122126;XM_005248256;XM_005248257 AAI01609;AAI01635;AAI43640;AAP15241;AAP15242;EAX08134;EAX08135;NP_001281266;NP_848664;Q86SI9;XP_005248313;XP_005248314 Hs.668017 CEI;IRX2NB;MGC126657;MGC126683 IRX2 neighbor;OTTHUMP00000220678;OTTHUMP00000220682;OTTHUMP00000220683;OTTHUMP00000228970;coordinated expression to IRX2;coordinated expression to IRXA2 homeobox;coordinated expression to IRXA2 protein protein-coding ENSG00000186493 HGNC:24226 16706 610522 VALIDATED 1606513 C5orf42 chromosome 5 open reading frame 42 The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012] 5 5 5 p13.2 36993297 37136467 - 37079423 37249530 - 37067870 37249428 - 6480464;8699517;7240710;8554872 10737800;12477932;14702039;15372022;17549794;20301500;20301743;20936779;21145461;21987572;22264561;22425360;23169490;24178751 65250 H0Y9I8;H0YA77;Q9H799;R4GNH6 ABBA01024176;ABBA01024177;ABBA01024178;AC008902;AC008925;AC025449;AK023293;AK024779;AK026735;AK055192;AK096581;AL832176;AL833065;AMYH02011173;AW996738;BC028410;BC074774;BC144069;BC144070;BC144072;BC150594;BX647602;BX649121;DB448866;DN831769;DW009792;DW009948;DW009949;DW009996;DW009997;DY655086;EG327639;KF457889;NG_032772;NM_023073;XM_005248345;XM_005248346;XM_005248347;XM_005248349;XM_005248350;XM_005248353;XM_006714489;XM_006714490;XM_006714491;XR_241711;XR_427661 AAH28410;AAH74774;AAI44070;AAI50595;BAB14513;BAB14999;BAB15539;BAC04822;NP_075561;Q9H799;XP_005248402;XP_005248403;XP_005248404;XP_005248406;XP_005248407;XP_005248410;XP_006714552;XP_006714553;XP_006714554 Hs.586199 1660980;1670997;2130082;2155116;5014762 D5S2523;D5S2547;RH11888;RH36352;STS-W92787 DKFZp686K02105;FLJ13231;FLJ21126;JBTS17 OTTHUMP00000218308;OTTHUMP00000218309;OTTHUMP00000218310;Transmembrane protein ENSP00000382582;hypothetical protein LOC65250;uncharacterized protein C5orf42 APPROVED protein-coding ENSG00000197603 HGNC:25801 07822 614571;614615 REVIEWED 2298818 C5orf47 chromosome 5 open reading frame 47 INTERACTS WITH trichostatin A; cadmium dichloride (ortholog) 5 5 5 q35.2 169448431 169465412 + 173416162 173433143 + 173989159 174026957 + 6480464 12477932 133491 Q569G3 ABBA01044015;AC093275;AC113423;AMYH02012786;BC034971;BC047225;BC053953;BC057842;BC066964;BC092489;BC121167;BC121168;CH471062;DB443869;NM_001144954;XM_006714819;XM_006714820 AAH34971;AAH92489;EAW61388;NP_001138426;Q569G3;XP_006714882;XP_006714883 Hs.131469 OTTHUMP00000223699;hypothetical protein LOC133491;uncharacterized protein C5orf47 protein-coding ENSG00000185056 HGNC:27026 VALIDATED 1606005 C5orf45 chromosome 5 open reading frame 45 INTERACTS WITH all-trans-retinoic acid; calcitriol; cobalt dichloride 5 5 5 q35.3 174889422 174910994 - 179263927 179285867 - 179837266 179858840 - 6480464 11076863;11230166;12477932;14702039;15146197;15489336;16381901;17207965;18976975;24250222 51149 B7Z1T6;E5RGF8;E5RHV0;E5RHY8;E5RI52;E5RIC8;E5RIJ7;E5RJC6;E5RK98;E7EMV9;F6UWW1;F6XPR0;Q6NTE8 ABBA01010044;ABBA01010045;ABBA01010046;ABBA01010047;AC008393;AF153685;AK293901;AK298954;AMYH02012894;AMYH02012895;AMYH02012896;BC002739;BC050714;BC056889;BC069051;BF965313;BQ642639;BX537968;BX647375;CH471165;CN363239;CR936785;NM_001017987;NM_016175 AAD51611;AAH02739;AAH69051;ADQ32062;BAH11622;BAH12911;CAD97932;CAL37424;CAL38467;EAW53784;EAW53785;NP_001017987;NP_057259;Q6NTE8 Hs.741169 1740517;1740867;1776934;1856023;2108523;2120717;2130122;2154130;2162845;5015861;5020274;5020948;5021228;5022200;5022425;5037552;5037670;5112017;7185938 A002O27;A008T21;D10S16;D11S4452;D22S296;D3S4354;D5S2306E;D8S2279;G35510;G44365;GDB:312794;L18426;L18441;RH18060;RH70719;SHGC-33017;SQSTM1_8870;WI-22658 DKFZp686L2452;MGC65027;MGC78537 OTTHUMP00000224084;OTTHUMP00000224353;OTTHUMP00000224355;OTTHUMP00000224356;OTTHUMP00000224357;UPF0544 protein C5orf45;hypothetical protein LOC51149 protein-coding ENSG00000161010 HGNC:30817 17420 VALIDATED 1605197 C5orf46 chromosome 5 open reading frame 46 FOUND IN extracellular vesicular exosome; INTERACTS WITH disodium selenite 5 5 5 q32 143353069 143366899 - 147269579 147286101 - 147890016 147906538 - 6480464 12477932;12975309;19199708 389336 Q6UWT4 ABBA01026321;AC011352;AK289403;AMYH02012428;AY358656;BC021680;NM_206966;XM_005268446 AAH21680;AAQ89019;ADZ16057;BAF82092;NP_996849;Q6UWT4;XP_005268503 Hs.660038 1653205 L28266 MGC23985;SSSP1 OTTHUMP00000223878;hypothetical protein LOC389336;skin and saliva secreted protein 1;uncharacterized protein C5orf46 protein-coding ENSG00000178776 HGNC:33768 14491 VALIDATED 2306473 C5orf55 chromosome 5 open reading frame 55 FOUND IN extracellular region (inferred); INTERACTS WITH valproic acid 5 5 5 p15.33 539762 541405 - 441613 443258 - 441498 443143 - 6480464 12477932;16189514 116349 Q8N2X6 ABBA01034257;AC010442;AMYH02010752;BC014011;BC029796;NM_138464 AAH14011;AAH29796;NP_612473;Q8N2X6 Hs.446702 5014051 D8S2278 OTTHUMP00000221641;hypothetical protein LOC116349;uncharacterized protein C5orf55 protein-coding ENSG00000221990 HGNC:25175 VALIDATED 2298811 C5orf49 chromosome 5 open reading frame 49 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 5 5 5 p15.31 7872579 7892308 - 7830491 7851603 - 7830378 7851490 - 8554872 12477932;20379614 134121 A4QMS7;D6RHK3 ABBA01020576;AC010346;AMYH02010823;BC053548;BC062569;BC104204;BC104205;BC115361;CH471102;NM_001089584 A4QMS7;AAI04206;AAI15362;EAX08096;NP_001083053 Hs.709979 1675672 RH99110 OTTHUMP00000220815;OTTHUMP00000220816;hypothetical protein LOC134121;uncharacterized protein C5orf49 protein-coding ENSG00000215217 HGNC:27028 VALIDATED 1605775 C5orf56 chromosome 5 open reading frame 56 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH crotonaldehyde 5 5 5 q31.1 127876758 127928158 + 131746465 131811736 + 132410773 132476044 + 8554872;6480464 12477932;14702039;18587394;19760754;20031576;20031577;20570966;20886065;21102463;22561531;23128233;23969696 441108 A6NHD6;B5MCK2;Q8N8D9 ABBA01068805;ABBA01068806;ABBA01068807;AC116366;AI377899;AK025221;AK096941;AK128882;AK129632;AK309191;AMYH02012215;BC130299;BC130656;BM998490;CH471062;CS072460;DC350817;DN991436;NR_045116 AAI30300;AAI30657;ADR83475;BAC04907;CAI93598;EAW62333;EAW62334;EAW62335;EAW62336;Q8N8D9 Hs.658288 1669682;1773548;1785420;1791554;1792798;1803044;1803114;1803452;1805262;1806444;1807810;1807944;1810180;1810464;1810466;1811368;1811688;1812078;1812560;1814178;1815312;1815680;1816614;1817912;1818420;1820652;1822512;1824624;1825426;1825656;1826492;1827296;1827860;1827960;1829820;1830176;1831418;1831730;1834440;1834774;1835728;1835926;1837184;1837290;1837860;1838414;1839068;1840942;1841188;1843886;1846278;1847177;1998426;1998428;1998430;1998432;1998434;1998436;1998438;1998440;1998442;1998444;1998446;1998448;1998450;1998452;1998454;1998456;1998458;1998460;1998462;1998464;1998466;1998468;1998470;1998472;1998474;1998476;1998478;1998480;1998482;1998484;1998486;1998488;1998490;1998492;1998494;1998496;1998498;1998500;1998502;1998504;1998506;1998508;1998510;1998512;1998514;1998516;1998518;1998520;1998522;1998524;1998526;1998528;1998530;1998532;1998534;1998536;1998538;1998540;1998542;1998544;1998546;1998548;1998550;1998552;1998554;1998556;1998558;1998560;1998562;1998564;1998566;1998568;1998570;1998572;1998574;1998576;1998578;1998580;1998582;1998584;1998586;1998588;1998590;1998592;1998594;1998596;1998598;1998600;1998602;1998604;1998606;1998608;1998610;1998612;1998614;1998616;1998618;1998620;1998622;1998624;1998626;1998628;1998630;1998632;1998634;1998636;1998638;1998640;1998642;1998644;1998646;1998648;1998650;1998652;1998654;1998656;1998658;1998660;1998662;1998664;1998666;1998668;1998670;1998672;1998674;1998676;1998678;1998680;1998682;1998684;1998686;1998688;1998690;1998692;1998694;1998696;1998698;1998700;1998702;1998704;1998706;1998708;1998710;1998712;1998714;1998716;1998718;1998720;1998722;1998724;1998726;1998728;1998730;1998732;1998734;1998736;1998740;1998742;1998744;1998746;1998748;1998750;1998752;1998754;1998756;1998758;1998760;1998762;1998764;1998766;1998768;1998770;1998772;1998774;1998776;1998778;1998780;1998782;1998784;1998786;1998788;1998790;1998792;1998794;1998796;1998798;1998800;1998802;1998804;1998806;1998808;1998810;1998812;1998814;1998816;1998818;1998820;1998822;1998824;1998826;1998828;1998830;1998832;1998834;1998836;1998838;1998840;1998842;1998844;1998846;1998848;1998850;1998852;1998854;1998856;1998858;1998860;1998862;1998864;1998866;1998868;1998870;1998872;1998874;1998876;1998878;1998880;1998882;1998884;1998886;1998888;1998890;1998892;1998960;1998962;1998964;1998966;1998968;1998970;1998972;1998974;1998976;1998978;1999088;1999090;2095974;2095976;2095978;2095980;2095982;2095984;2095986;2095988;2095990;2095992;2095994;2095996;2095998;2096000;2096002;2096004;2096006;2096008;2096010;2096012;2096014;2096016;2096018;2096020;2096022;2096024;2096026;2096028;2096030;2096032;2096034;2096036;2096038;2096040;2096042;2096044;2096046;2096048;2096050;2096052;2096054;2096056;2096058;2096074 ECD02413;ECD02448;ECD02623;ECD03576;ECD04178;ECD04880;ECD04947;ECD06082;ECD06225;ECD06226;ECD06682;ECD06848;ECD07044;ECD07290;ECD08118;ECD08692;ECD08878;ECD09349;ECD10010;ECD10268;ECD11401;ECD12344;ECD13410;ECD13820;ECD13936;ECD14360;ECD14763;ECD15053;ECD15103;ECD16043;ECD16221;ECD16845;ECD17002;ECD18368;ECD18535;ECD19021;ECD19124;ECD19758;ECD19812;ECD20100;ECD20381;ECD20713;ECD21664;ECD21789;ECD23154;ECD24359;L28348;PMC115182P1;PMC164606P14;REN70125;REN70126;REN70127;REN70128;REN70129;REN70130;REN70131;REN70132;REN70133;REN70134;REN70135;REN70136;REN70137;REN70138;REN70139;REN70140;REN70141;REN70142;REN70143;REN70144;REN70145;REN70146;REN70147;REN70148;REN70149;REN70150;REN70151;REN70152;REN70153;REN70154;REN70155;REN70156;REN70157;REN70158;REN70159;REN70160;REN70161;REN70162;REN70163;REN70164;REN70165;REN70166;REN70167;REN70168;REN70169;REN70170;REN70171;REN70172;REN70173;REN70174;REN70175;REN70176;REN70177;REN70178;REN70179;REN70180;REN70181;REN70182;REN70183;REN70184;REN70185;REN70186;REN70187;REN70188;REN70189;REN70190;REN70191;REN70192;REN70193;REN70194;REN70195;REN70196;REN70197;REN70198;REN70199;REN70200;REN70201;REN70202;REN70203;REN70204;REN70205;REN70206;REN70207;REN70208;REN70209;REN70210;REN70211;REN70212;REN70213;REN70214;REN70215;REN70216;REN70217;REN70218;REN70219;REN70220;REN70221;REN70222;REN70223;REN70224;REN70225;REN70226;REN70227;REN70228;REN70229;REN70230;REN70231;REN70232;REN70233;REN70234;REN70235;REN70236;REN70237;REN70238;REN70239;REN70240;REN70241;REN70242;REN70243;REN70244;REN70245;REN70246;REN70247;REN70248;REN70249;REN70250;REN70251;REN70252;REN70253;REN70254;REN70255;REN70256;REN70257;REN70258;REN70259;REN70260;REN70261;REN70262;REN70263;REN70264;REN70265;REN70266;REN70267;REN70268;REN70269;REN70270;REN70271;REN70272;REN70273;REN70274;REN70275;REN70276;REN70277;REN70278;REN70279;REN70280;REN70282;REN70283;REN70284;REN70285;REN70286;REN70287;REN70288;REN70289;REN70290;REN70291;REN70292;REN70293;REN70294;REN70295;REN70296;REN70297;REN70298;REN70299;REN70300;REN70301;REN70302;REN70303;REN70304;REN70305;REN70306;REN70307;REN70308;REN70309;REN70310;REN70311;REN70312;REN70313;REN70314;REN70315;REN70316;REN70317;REN70318;REN70319;REN70320;REN70321;REN70322;REN70323;REN70324;REN70325;REN70326;REN70327;REN70328;REN70329;REN70330;REN70331;REN70332;REN70333;REN70334;REN70335;REN70336;REN70337;REN70338;REN70339;REN70340;REN70341;REN70342;REN70343;REN70344;REN70345;REN70346;REN70347;REN70348;REN70349;REN70350;REN70351;REN70352;REN70353;REN70354;REN70355;REN70356;REN70357;REN70358;REN70392;REN70393;REN70394;REN70395;REN70396;REN70397;REN70398;REN70399;REN70400;REN70401;REN70456;REN70457;RH47939;RH70122;SHGC-144724;stSG601254;stSG601255;stSG601256;stSG601257;stSG601258;stSG601259;stSG601260;stSG601261;stSG601262;stSG601263;stSG601264;stSG601265;stSG601266;stSG601267;stSG601268;stSG601269;stSG601270;stSG601271;stSG601272;stSG601274;stSG601275;stSG601276;stSG601277;stSG601278;stSG601279;stSG601280;stSG601281;stSG601282;stSG601283;stSG601284;stSG601285;stSG601286;stSG601287;stSG601288;stSG601289;stSG601290;stSG601291;stSG601292;stSG601293;stSG601294;stSG601295;stSG601296;stSG601297;stSG601305 FLJ21568;FLJ26121 OTTHUMP00000065826;OTTHUMP00000065827;OTTHUMP00000065828;hypothetical protein LOC441108 ncrna ENSG00000197536 HGNC:33838 18460 VALIDATED 3403707 C5orf58 chromosome 5 open reading frame 58 INTERACTS WITH lead(0); lead(2+) 5 5 5 q35.1 165691873 165705161 + 169659916 169673235 + 170232912 170246231 + 6480464 12477932 133874 C9J3I9;G3V135 ABBA01044101;AC008660;AC034199;AMYH02012715;BC030767;BC092511;BX100176;CH471062;KF458057;NM_001102609;XM_005265817 C9J3I9;EAW61482;NP_001096079;XP_005265874 Hs.519749 1654229 RH70635 MGC42229 OTTHUMP00000223182;putative uncharacterized protein C5orf58 protein-coding ENSG00000234511 HGNC:37272 PREDICTED 1604480 C5orf64 chromosome 5 open reading frame 64 FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin 5 5 5 q12.1 57929772 57998497 + 60933636 61002362 + 61637809 61706535 + 12477932;14702039;22832961 285668 Q2M2E5 ABBA01048371;AC026746;AC094086;AK094862;AK127800;AMYH02011382;AMYH02011383;BC111982;BC112008;CH471137;NM_173667 AAI11983;AAI12009;BAC04439;EAW51393;NP_775938;Q2M2E5 Hs.683866 1341609;1681885;1709964;1761023;5015619;5037552 D11S3114;D5S1990;D8S2279;RH92005;SHGC-144986;SHGC-82250 FLJ37543;FLJ45901;MGC138187;MGC138213 OTTHUMP00000221970;hypothetical protein LOC285668;uncharacterized protein C5orf64 APPROVED protein-coding HGNC:26744 09962 VALIDATED 7407245 C5orf66 chromosome 5 open reading frame 66 5 5 134368970 134680370 + 135033280 135344680 + 18391951;21297633;21502085;22658931;23128233;23251661;23263487 100996485 G3V5W9;Q9H5L9 ABBA01068727;ABBA01068728;ABBA01068729;ABBA01068730;AC008406;AC010238;AC026691;AK026965;AMYH02012253;AMYH02012254;AMYH02012255;KC877133;LN608063;LN608065;NM_001277348 BAB15606;NP_001264277;Q9H5L9 putative uncharacterized protein C5orf66;uncharacterized protein LOC100996485 protein-coding ENSG00000224186 HGNC:48332 VALIDATED 1604481 C5orf51 chromosome 5 open reading frame 51 INTERACTS WITH diuron (ortholog) 5 5 5 p13.1 41792762 41810031 + 41904423 41921738 + 41904323 41921636 + 6480464 12477932;14702039;15372022;15489334;19322201;21139048;21890473;22505724 285636 A6NDU8;Q6AW98 ABBA01024237;AC034222;AK094002;AL833916;AMYH02011221;BC131721;BF439305;CH471119;NM_175921;XM_005248289;XM_006714471 A6NDU8;AAI31722;EAW56016;EAW56017;NP_787117;XP_005248346;XP_006714534 Hs.29899 1677220 RH98965 OTTHUMP00000221208;UPF0600 protein;UPF0600 protein C5orf51;hypothetical protein LOC285636 protein-coding ENSG00000205765 HGNC:27750 11258 VALIDATED 2303474 C5orf52 chromosome 5 open reading frame 52 5 5 5 q33.3 153125154 153133754 + 157098561 157107162 + 157671553 157680154 + 15372022;15489334 100190949 A6NGY3 ABBA01044264;AC008694;AI187821;AMYH02012554;BG721329;CH471062;NM_001145132 A6NGY3;EAW61592;NP_001138604 Hs.720862 1659144 RH65319 OTTHUMP00000205880;hypothetical protein LOC100190949;uncharacterized protein C5orf52 protein-coding ENSG00000187658 HGNC:35121 VALIDATED 8179407 C5orf66-AS2 C5orf66 antisense RNA 2 5 5 q31.2 134571924 134583867 - 135236234 135248177 - 12477932;19240791;23251661 340073 AA469978;ABBA01068727;ABBA01068728;AC010238;AMYH02012255;BC045187;HG498503;NR_037895 Hs.434422 ncrna ENSG00000249647 HGNC:27964 VALIDATED 1350608 C5orf9 chromosome 5 open reading frame 9 q31 415118 AI808255 Hs.124611 protein-coding HGNC:17924 5132119 C5orf63 chromosome 5 open reading frame 63 INVOLVED IN oxidation-reduction process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH lead(0); lead(2+); valproic acid 5 5 5 q23.2 122507919 122538849 - 126378250 126409184 - 127042558 127073492 - 6480464 16344560 401207 A6NC05;U3KPR6;U3KQ05;U3KQB8;U3KQR4 ABBA01068884;AC004507;AC005915;AK126569;AMYH02012159;BQ269742;CH471062;DA507232;NM_001164478;NM_001164479 A6NC05;EAW62410;EAW62411;NP_001157950;NP_001157951 Hs.49573 1682015;1719097;2148124;2152932 RH123266;RH65981;RH93386;SGC32884 FLJ44606;YDR286C glutaredoxin-like protein C5orf63;glutaredoxin-like protein YDR286C homolog protein-coding ENSG00000164241 HGNC:40051 VALIDATED 8169851 C5orf66-AS1 C5orf66 antisense RNA 1 5 5 q31.1 134374521 134375790 - 135038831 135040047 - 16368877 101927953 ABBA01068729;AC008406;AI459244;AMYH02012253;BE785577;BY798674;NR_105049;NR_105050 Hs.436898 CTC-276P9.1 ncrna ENSG00000249082 HGNC:49679 VALIDATED 3104049 C5orf60 chromosome 5 open reading frame 60 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methoxyethanol (ortholog) 5 5 5 q35.3 174576673 174701572 + 179068545 179072083 - 179641544 179645082 - 6480464 12477932;14702039;15372022;15489334 285679 A6NFR6;H0Y8N9 ABBA01010029;AC136604;AK093042;AMYH02012883;BC040992;BC043435;BC130442;BC130444;BC144274;BC144275;HC007094;NM_001142306;XM_006714856;XM_006714857;XR_427803 A6NFR6;AAI30443;AAI30445;AAI44275;AAI44276;CBH19352;NP_001135778;Q8NA96;XP_006714919;XP_006714920 Hs.558748 1650586;1654186;1660625;1676656;1677012;1677116;1683156;1694678;1700336;1719077;1797694;2130779;2140472 D5S1862;G16980;G43520;HNRPH1_2339;RH103788;RH123255;RH69028;RH77877;RH78175;RH79987;RH99066;RH99206;SHGC-13723 FLJ35723 OTTHUMP00000223358;OTTHUMP00000223359;putative uncharacterized protein C5orf60;putative uncharacterized protein FLJ35723 protein-coding ENSG00000204661 HGNC:27753 PREDICTED 1347646 C6orf114 chromosome 6 open reading frame 114 6 6 p23 14702736 14719620 - 13469509 13486415 - 12477932;14574404;15489334 85411 AF264036;AL583828;BC009205;BC066553;CH471087;NM_033069 AAH66553;AAK58533;CAI14821;EAW55330;NP_149060;Q96JD4 Hs.674313 ADG-90;FLJ20330;RP11-501I19.1 OTTHUMP00000016049;hypothetical protein LOC85411 protein-coding HGNC:21229 12841 MODEL 1601978 C6orf106 chromosome 6 open reading frame 106 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; afimoxifene; all-trans-retinoic acid 6 6 6 p21.31 36109394 36219085 - 34555065 34664625 - 34587280 34696850 - 6480464;8554872 12477932;14574404;14702039;15489334;18003597;18391952;18793612;19059477;19266077;19322201;19343178;20546612;20686565;20846217;21139048;21832049;21890473;21906983;21963094;21987572;21988832;22053931;22505724;23000965;23449627;23563607;23940030;24097068;24324551;8619474;9110174 64771 Q5TH58;Q9H6K1 ABBA01038192;ABBA01038193;ABBA01038194;ABBA01038195;ABBA01038196;ABBA01038197;AF052106;AF370387;AI469525;AK025848;AK056964;AK313410;AL031577;AL451165;AMYH02013521;AMYH02013522;AMYH02013523;AMYH02013524;BC002328;BC010143;BC010184;BC013241;BC071885;BC075810;BC107732;BE898102;CH471081;KF458147;NM_022758;NM_024294;XM_005249298 AAH02328;AAH10184;AAH75810;AAQ15223;BAB15258;BAB71327;BAG36204;EAX03790;EAX03791;EAX03792;NP_073595;NP_077270;Q9H6K1;XP_005249355 Hs.643498;Hs.716193 1654832;2124337;2144210;2157578 D6S1136E;RH16573;RH65367;WI-21948 FLJ22195;FLJ32402;FP852;MGC4614;RP3-391O22.4;dJ391O22.4 OTTHUMP00000016235;OTTHUMP00000016236;OTTHUMP00000016237;uncharacterized protein C6orf106 protein-coding ENSG00000196821 HGNC:21215 12837 612217 VALIDATED 1605841 C6orf1 chromosome 6 open reading frame 1 FOUND IN extracellular region (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; cyclosporin A 6 6 6 p21.31 35768530 35771279 - 34214157 34216904 - 34246380 34249108 - 6480464 10036196;12477932;15489334;18187620;19893584;19913121;20379614;20628086;21998595;24324551;8889549 221491 G8JLJ3;Q86T20 AA043491;AA779779;ABBA01038180;AK290164;AL354740;AMYH02013510;AY062936;BC009526;BC023627;BC047919;BM474526;BU194178;BU956518;CF456665;CH471081;CK001844;NM_001008703;NM_001008704;NM_001287396;NM_001287397;NM_001287398;NM_178508;XM_005248923 AAH23627;AAH47919;BAF82853;EAX03775;EAX03776;EAX03777;EAX03778;NP_001008703;NP_001008704;NP_001274325;NP_001274326;NP_001274327;NP_848603;Q86T20;XP_005248980 Hs.381300 1677856;2189327 MARC_1047-1048:991929773:1;RH94282 LBH;MGC57858 OTTHUMP00000216380;OTTHUMP00000216551;OTTHUMP00000216552;OTTHUMP00000216553;hypothetical protein LOC221491;uncharacterized protein C6orf1 protein-coding ENSG00000186577 HGNC:1340 12834 611419 VALIDATED 1345988 C6orf131 chromosome 6 open reading frame 131 387091 HGNC:21287 1349789 C6orf118 chromosome 6 open reading frame 118 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH calcitriol 6 6 6 q27 166431264 166461218 - 165693153 165723111 - 165264599 165309622 - 6480464;8554872 12477932;14574404;15489334;21832049;22589738;8889548 168090 Q5T5N4 ABBA01015091;AI333765;AK302358;AL117345;AL356125;AMYH02014951;BC026278;BM968092;CH471051;DB454755;NM_144980;XM_005266838;XM_006715352;XM_006715353;XR_427964 AAH26278;BAH13683;EAW47548;EAW47549;NP_659417;Q5T5N4;XP_005266895;XP_006715415;XP_006715416 Hs.144734 MGC23884;bA85G2.1;dJ416F21.2 OTTHUMP00000017584;dJ416F21.2 (novel protein);hypothetical protein LOC168090;uncharacterized protein C6orf118 protein-coding ENSG00000112539 HGNC:21233 12844 VALIDATED 1354360 C6orf132 chromosome 6 open reading frame 132 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; hydralazine; silicon dioxide 6 6 6 p21.1 43621313 43663175 - 42068857 42110715 - 42101119 42142977 - 6480464;8554872 24529757 647024 Q5T0Z8 ABBA01050734;ABBA01050735;ABBA01050736;AK074567;AL096814;AL512274;AMYH02013616;AMYH02013617;KF458155;KF458156;NM_001164446 NP_001157918;Q5T0Z8 Hs.444277 1758385;5015961 D15S1477;SHGC-148209 FLJ90086;bA7K24.2 OTTHUMP00000016396;OTTHUMP00000223436;hypothetical protein LOC647024;uncharacterized protein C6orf132 protein-coding ENSG00000188112 HGNC:21288 PREDICTED 1352972 C6 complement component 6 This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012] 5 5 5 p13 41030916 41150111 - 41142248 41261588 - 41142146 41261486 - 1600672;1600673;625607;1600675;1600489;1600682;1600670;1580863;6480464;6907045;7240710;8554872;8699517 10807586;11912252;11970970;15351314;15638131;17034580;2672823 10551839;12477932;1387399;14757862;15489334;15845028;16169070;16335952;16344560;1672663;17257682;17474147;18842294;19162005;19344414;19423540;19665237;19864026;19913121;20237496;20406964;20438785;20459687;20628086;21704099;21988832;22267737;22288589;22500023;23149075;23750785;2468158;2789218;2808363;3052276;3192535;3764345;8101442;8364540;8512929;8805625;9366265;9472666;9856498 729 C9JC72;C9JX36;P13671 AB126592;ABBA01024229;ABBA01024230;ABBA01024231;AC008863;AC091871;AK292509;AK313673;AMYH02011219;BC035723;BJ993387;CH471119;DB066614;DB184605;J04506;J05024;J05064;NG_011582;NM_000065;NM_001115131;X72177;XM_005248356;XM_005248357;XM_006714496;XM_006714497 AAA51860;AAA59668;AAB59433;AAH35723;ABM82183;ABM85369;BAD02321;BAF85198;CAA50994;EAW56012;EAW56013;NP_000056;NP_001108603;P13671;XP_005248413;XP_005248414;XP_006714559;XP_006714560 Hs.481992 1655871;1695680;1717965;1743587;1785282;2177204;2217092;5491856 C6;C6_2629;D5S2425;GDB:352711;RH122809;SHGC-106966;SHGC-78720;STS-X72177 OTTHUMP00000120010;OTTHUMP00000197101;complement component C6 APPROVED protein-coding ENSG00000039537 HGNC:1339 01956 217050;612446 REVIEWED 1348768 C6orf120 chromosome 6 open reading frame 120 INVOLVED IN apoptotic process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH valproic acid 6 6 6 q27 170812442 170816587 + 170102238 170106402 + 169702161 169706306 + 6480464 12477932;21980299;22340178;8619474;8908511;9110174 387263 Q7Z4R8 ABBA01016118;AF055030;AF451991;AK295061;AK295962;AL513547;AMYH02015002;BC051700;CH471051;NM_001029863 AAH51700;AAP97690;BAG58110;BAG58741;EAW47445;EAW47446;NP_001025034;Q7Z4R8 Hs.591375;Hs.694601 1769969;2138236;2151082 D6S1237E;D6S1902;RH36593 bA160E12.4 OTTHUMP00000017670;UPF0669 protein C6orf120;hypothetical protein LOC387263 protein-coding HGNC:21247 PROVISIONAL 1348259 C6orf136 chromosome 6 open reading frame 136 FOUND IN mitochondrion (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; paracetamol 6 6 6 p21.33 32212933 32219096 + 30614816 30620987 + 30647039 30653210 + 6480464 12477932;14574404;14702039;15342556;15489334;16344560;17207965;21900206;22461910;24250222;8889548 221545 F8WBB4;F8WC77;F8WEV2;H7C4U4;H7C4Z6;H7C5B5;H7C5D3;Q0P5T2;Q5SQH8 ABBA01038051;ABBA01038052;AI536982;AK127564;AL662798;AL662800;AL732442;AL845353;AMYH02013437;BC016167;BC064397;BC073975;BM695485;BP255323;BQ022831;BX119957;BX908728;CH471081;CR753328;CR759778;DA200997;NM_001109938;NM_001161376;NM_145029 AAH16167;AAH64397;ADQ32157;BAC87037;EAX03310;EAX03311;NP_001103408;NP_001154848;NP_659466;Q5SQH8 Hs.591787 1685379;1739677;2156323;2189613;5116997 C4_2_24;D6S1533E;HL002;RH98618;STS-N98554 MGC15854 OTTHUMP00000029326;OTTHUMP00000029327;OTTHUMP00000029329;OTTHUMP00000214979;hypothetical protein LOC221545;uncharacterized protein C6orf136 protein-coding ENSG00000204564 HGNC:21301 12851 VALIDATED 1350222 C6orf144 chromosome 6 open reading frame 144 387096 HGNC:21358 1348540 C6orf15 chromosome 6 open reading frame 15 ENCODES a protein that exhibits collagen V binding (inferred); fibronectin binding (inferred); heparin binding (inferred); INVOLVED IN extracellular matrix organization (inferred); FOUND IN interstitial matrix (inferred); INTERACTS WITH atrazine; benzo[a]pyrene; paracetamol 6 6 6 p21.3 32679218 32680550 - 31079000 31080332 - 31111223 31112555 - 6480464 10545595;11178745;12975309;14574404;15217361;15466855;18029348;19620980;19851445;20639881;21738480;21841780;22493691;23263863;23326239 29113 M1T2K5;Q6UXA7 AB031481;AB088114;AB202103;ABBA01038068;AL662844;AL662867;AL773544;AMYH02013443;AY358438;BX927139;CH471081;CR753819;CR759805;NG_021348;NM_014070 AAI46375;AAI53158;AAQ88804;BAA88132;BAC54947;BAE78624;EAX03356;NP_054789;Q6UXA7 Hs.272214 5493185 UniSTS:484638 STG OTTHUMP00000029146;taste bud-specific protein;uncharacterized protein C6orf15 protein-coding ENSG00000204542 HGNC:13927 12856 611401 VALIDATED 1346663 C6orf10 chromosome 6 open reading frame 10 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 6 6 6 p21.3 33827603 33906430 - 32260475 32339705 - 32292698 32371929 - 6480464;8554872 10803852;12477932;12509440;14574404;15489334;18445777;18576341;18941528;19116923;19143821;19460752;19680446;19851445;20200978;20453842;20549515;20587610;20595679;20639878;20662065;21326295;21408207;21505073;21779181;21804548;21900946;22457343;22589738;22703881;22751097;23042114;23251661;23321320;23535732;23870195;23918589;24282030;24292274;24449572;8125298 10665 B4DXY0;C9J9T8;E9PLW3;E9PNQ4;E9PQ85;F8VVU2;Q13647;Q5SRN2 ABBA01038109;ABBA01038110;AK225742;AK302176;AK310230;AL034394;AL035445;AL662796;AL670296;AL671511;AL845509;AL845557;AMYH02013469;AMYH02013470;AMYH02013471;BC034774;BX001039;BX113229;BX119999;BX255945;BX284927;BX908732;BX927180;BX927239;CH471081;CR751604;CR752644;CR753609;CR759737;CR759773;CR759917;CT009614;DC399589;NM_001286474;NM_001286475;NM_006781;U60665;XM_005248810;XM_005274912;XM_005275078;XM_005275342;XM_006714958;XM_006714959;XM_006714960;XM_006714961;XM_006714962;XM_006714963;XM_006714964;XM_006714965;XM_006725466;XM_006725673;XM_006725674;XM_006725675;XM_006725676;XM_006725677;XM_006725678;XM_006725679;XM_006725680;XM_006725681;XM_006725795;XM_006725796;XM_006725797;XM_006725798;XM_006725799;XM_006725800;XM_006725801;XM_006725802;XM_006725803;XM_006725972;XM_006725973;XM_006725974;XM_006725975;XM_006725976;XM_006725977;XM_006725978;XM_006725979;XM_006725980;XM_006726073 AAB02975;AAH34774;BAG63542;CAI20345;CAI20346;CAI42178;CAI42179;EAX03624;EAX03625;NP_001273403;NP_001273404;NP_006772;Q5SRN2;XP_005248867;XP_005274969;XP_005275135;XP_005275399;XP_006715021;XP_006715022;XP_006715023;XP_006715024;XP_006715025;XP_006715026;XP_006715027;XP_006715028;XP_006725529;XP_006725736;XP_006725737;XP_006725738;XP_006725739;XP_006725740;XP_006725741;XP_006725742;XP_006725743;XP_006725744;XP_006725858;XP_006725859;XP_006725860;XP_006725861;XP_006725862;XP_006725863;XP_006725864;XP_006725865;XP_006725866;XP_006726035;XP_006726036;XP_006726037;XP_006726038;XP_006726039;XP_006726040;XP_006726041;XP_006726042;XP_006726043;XP_006726136 Hs.567414 1681203;1697158;1786154;2106255;2106257;2106259;2106261;2106263;2106265;2106267;2106269;2106271;2106273;2106275;2106277;2189725;2189727;2220328 13-36829;D6S2732;D6S2734;D6S2744;D6S2886;D6S2887;D6S2888;D6S2889;D6S2890;D6S2891;D6S2892;D6S2913;D6S2914;M2_2_46;M2_2_48;RH102067;RH80842;SHGC-79455 TSBP OTTHUMP00000029142;OTTHUMP00000029143;OTTHUMP00000229345;OTTHUMP00000229346;OTTHUMP00000229347;testis specific basic protein;uncharacterized protein C6orf10 protein-coding ENSG00000204296 HGNC:13922 09851 VALIDATED 1351982 C6orf177 chromosome 6 open reading frame 177 387105 H7C4Q1 HGNC:21537 1350837 C6orf164 chromosome 6 open reading frame 164 6 6 6 q15-q16.1 88525506 88528123 + 88106842 88109459 + 87397124 87399741 + 12477932;14702039 63914 Q5TEZ4 ABBA01040493;ABBA01040494;AK021476;AL096817;AMYH02014053;NR_026784 Q5TEZ4 Hs.645177 dJ102H19.4 ncrna ENSG00000226524 HGNC:21404 VALIDATED 1346584 C6orf179 chromosome 6 open reading frame 179 387109 AL365217 CAI16604 bA74E24.1 protein-coding HGNC:21547 1349161 C6orf178 chromosome 6 open reading frame 178 387108 HGNC:21546 1348040 C6orf180 chromosome 6 open reading frame 180 387110 HGNC:21548 1604202 C6orf163 chromosome 6 open reading frame 163 INTERACTS WITH trichostatin A 6 6 6 q15 88473243 88493854 + 88054571 88075381 + 87344656 87365463 + 6480464 14574404;14702039 206412 E1P506;Q5TEZ5;V9GZ22 ABBA01040492;AK092941;AL096817;AMYH02014053;CH471051;NM_001010868;XM_005248673;XM_006715370;XM_006715371;XM_006715372 EAW48604;EAW48605;EAW48606;NP_001010868;Q5TEZ5;XP_005248730;XP_006715433;XP_006715434;XP_006715435 Hs.646309 2113832;5015961;5037552 AB070040;D15S1477;D8S2279 OTTHUMP00000016829;hypothetical protein LOC206412;uncharacterized protein C6orf163 protein-coding ENSG00000203872 HGNC:21403 16659 PROVISIONAL 1346500 C6orf187 chromosome 6 open reading frame 187 221299 XM_166305 HGNC:21567 1342733 C6orf141 chromosome 6 open reading frame 141 INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; all-trans-retinoic acid 6 6 6 p12.3 51074268 51075963 + 49518113 49523166 + 49550400 49555453 + 6480464 12477932;14574404;14702039;15146197;15489334 135398 H0YDR2;Q5SZD1 ABBA01050590;AK054918;AK289889;AL590244;AMYH02013710;BC036917;CH471081;CN345508;NM_001145652;XM_005248850;XM_005248851;XM_005248852;XM_005248853;XM_005248854;XM_006714997 AAH36917;BAB70828;BAF82578;EAX04335;EAX04336;NP_001139124;Q5SZD1;XP_005248907;XP_005248908;XP_005248909;XP_005248910;XP_005248911;XP_006715060 Hs.722010 5015861;5015881;7185938 D10S16;GDB:335751 MGC46457 OTTHUMP00000233263;hypothetical protein LOC135398;uncharacterized protein C6orf141 protein-coding ENSG00000197261 HGNC:21351 12852 VALIDATED 1351435 C6orf2 chromosome 6 open reading frame 2 23737 HGNC:1341 1349077 C6orf193 chromosome 6 open reading frame 193 254751 XM_173173 HGNC:19130 1349220 C6orf184 chromosome 6 open reading frame 184 q21 11181995;12477932 221261 AL359711;BC107113;BC107114;CH471051;XM_001725460;XM_168053;XM_939850 A4QMU0;AAI07114;CAI40694;EAW48357;XP_001725512;XP_168053;XP_944943 Hs.373914 bA425D10.3 protein-coding HGNC:21563 1321665 C6orf165 chromosome 6 open reading frame 165 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH melphalan; valproic acid; cadmium dichloride (ortholog) 6 6 6 q15 88536482 88592999 + 88117690 88174191 + 87407972 87464473 + 6480464;8554872 12477932;14574404;14702039;15489334;16189514;16344560;20308539;24250222 154313 D6R9L9;D6RBZ4;Q8IYR0;Q8N771 ABBA01040494;AK093830;AK098840;AL049697;AMYH02014053;AMYH02014054;BC035083;BC045171;CH471051;DB021694;DB510748;NM_001031743 AAH35083;BAC04234;BAC05430;EAW48594;EAW48596;EAW48598;NP_001026913;Q8IYR0 Hs.82921 1335002;1676638;2176039 D6S1004;RH93136;SGC34177 FLJ25974;FLJ46091;dJ382I10.1 OTTHUMP00000016831;OTTHUMP00000220982;UPF0704 protein C6orf165;hypothetical protein LOC154313 protein-coding ENSG00000213204;ENSG00000272514 HGNC:21405 12863 VALIDATED 1354465 C6orf147 chromosome 6 open reading frame 147 6 6 6 q13 74377094 74414626 - 73983862 74020088 - 73274139 73310365 - 14702039;16341674 387097 ABBA01040310;ABBA01040311;AC019205;AK090984;AMYH02013905;AMYH02013906;BM747426;NR_027005 Hs.732094 1666974;1809276;1812602;1816948;1817340;1820570;1822202;1823370;1824056;1824216;1825944;1831840;1835710;1837634;1837974;1838904;1839178;1839380;1841174;1841720;1843112;1843228;1845122;1845726;1855756;1855758;1922730;1922732;1922734;1922736;1922738;1922740;1922742;1922744;1922746;1922748;1922750;1922752;1922754;1922756;1922758;1922760;1922762;1922764;1922766;1922768;1922770;1922772;1922774;1922776;1922778;1922780;1922782;1922784;1922786;1922788;1922790;1922792;1922794;1922796;1922798;1922800;1922802;1922804;1922806;1922808;1922810;1922812;1922814;1922816;1922818;1922820;1922822;1922824;1922826;1922828;1922830;1922832;1922834;1922836;1922838;1922840;1922842;1922844;1922846;1922848;1922850;1922852;1922854;1922856;1922858;1922860;1922862;1922864;1922866;1922868;1922870;1922872;1922874;1922876;1922878;1922880;1922882;1922884;1922886;1922888;1922890;1922892;1922894;1922896;1922898;1922900;1922902;1922904;1922906;1922908;1922910;1922912;1922914;1922916;1922918;1922920;1922922;1922924;1922926;1922928;1922930;1922932;1922934;1922936;1922938;1922940;1922942;1922944;1922946;1922948;1922950;1922952;1922954;1922956;1922958;1922960;1922962;1922964;1922966;1922968;1922970;1922972;1922974;1922976;1922978;1922980;1922982;1922984;1922986;1922988;1922990;1922992;1922994;1922996;1922998;1923000;1923002;1923004;1923006;1923008;1923010;1923012;1923014;1923016;1923018;1923020;1923022;2159494;2172145;2172147;2183855;2207106;2207108;2207110;2207112;2207114;2207116;2207118;2207120;2207122;2207124;2207126;2207128;2207130;2207132;2207134;2207136;2207138;2207140;2207142;2207144;2207146;2207148;2207150;2207152;2207154;2207156;2207218;5022322;5037552 A002C29;A005C09;D11S2560;D6S1876;D8S2279;ECD05628;ECD07311;ECD09523;ECD09720;ECD11360;ECD12187;ECD12775;ECD13124;ECD13205;ECD14081;ECD17058;ECD19012;ECD19984;ECD20158;ECD20631;ECD20769;ECD20872;ECD21781;ECD22058;ECD22764;ECD22822;ECD23778;ECD24082;G19931;G20265;REN32189;REN32190;REN32191;REN32192;REN32193;REN32194;REN32195;REN32196;REN32197;REN32198;REN32199;REN32200;REN32201;REN32202;REN32203;REN32204;REN32205;REN32206;REN32207;REN32208;REN32209;REN32210;REN32211;REN32212;REN32213;REN32214;REN32215;REN32216;REN32217;REN32218;REN32219;REN32220;REN32221;REN32222;REN32223;REN32224;REN32225;REN32226;REN32227;REN32228;REN32229;REN32230;REN32231;REN32232;REN32233;REN32234;REN32235;REN32236;REN32237;REN32238;REN32239;REN32240;REN32241;REN32242;REN32243;REN32244;REN32245;REN32246;REN32247;REN32248;REN32249;REN32250;REN32251;REN32252;REN32253;REN32254;REN32255;REN32256;REN32257;REN32258;REN32259;REN32260;REN32261;REN32262;REN32263;REN32264;REN32265;REN32266;REN32267;REN32268;REN32269;REN32270;REN32271;REN32272;REN32273;REN32274;REN32275;REN32276;REN32277;REN32278;REN32279;REN32280;REN32281;REN32282;REN32283;REN32284;REN32285;REN32286;REN32287;REN32288;REN32289;REN32290;REN32291;REN32292;REN32293;REN32294;REN32295;REN32296;REN32297;REN32298;REN32299;REN32300;REN32301;REN32302;REN32303;REN32304;REN32305;REN32306;REN32307;REN32308;REN32309;REN32310;REN32311;REN32312;REN32313;REN32314;REN32315;REN32316;REN32317;REN32318;REN32319;REN32320;REN32321;REN32322;REN32323;REN32324;REN32325;REN32326;REN32327;REN32328;REN32329;REN32330;REN32331;REN32332;REN32333;REN32334;REN32335;RH44515;WI-15927;stSG625778;stSG625779;stSG625780;stSG625781;stSG625782;stSG625783;stSG625784;stSG625785;stSG625786;stSG625787;stSG625788;stSG625789;stSG625790;stSG625791;stSG625792;stSG625793;stSG625794;stSG625795;stSG625796;stSG625797;stSG625798;stSG625799;stSG625800;stSG625801;stSG625802;stSG625803;stSG625837 ncrna HGNC:21363 PREDICTED 1343649 C6orf202 chromosome 6 open reading frame 202 387115 AL136968 CAI19704;Q5TBU7 dJ182O16.3 protein-coding HGNC:21621 1350155 C6orf183 chromosome 6 open reading frame 183 6 q21 109505723 109551438 + 11181995;14574404;14702039 389422 Q5T699 AL355305;AL359712;CH471051;XM_003403515;XM_003403796;XM_003960372 EAW48358;EAW48359;EAW48360;Q5T699;XP_003403563;XP_003403844;XP_003960421 FLJ37396;bA487F23.3 putative uncharacterized protein C6orf183;transmembrane protein FLJ37396 protein-coding HGNC:21562 1346285 C6orf203 chromosome 6 open reading frame 203 FOUND IN mitochondrion; INTERACTS WITH (-)-epigallocatechin 3-gallate; (R)-pantothenic acid; copper(2+) sulfate 6 6 6 q21 108097763 108120882 + 107349407 107372546 + 107028172 107051586 + 6480464 11042152;11707072;12107413;12477932;14574404;14702039;15489334;16169070;16344560;20186120;20877624;21832049;21988832;24250222;24816145 51250 Q9P0P8 ABBA01026182;ABBA01026183;ABBA01026184;AF151064;AI193526;AI693246;AK091564;AL355586;AMYH02014248;AMYH02014249;BC010899;BX333652;CD673918;CH471051;DA167160;DB499205;NM_001142468;NM_001142470;NM_016487;XM_005267008 AAF36150;AAH10899;ADZ15801;BAG52381;EAW48402;NP_001135940;NP_001135942;NP_057571;Q9P0P8;XP_005267065 Hs.486084;Hs.689004 2180854;5022339 HSPC230;RH45359 FLJ34245;HSPC230;PRED31;RP11-59I9.1 OTTHUMP00000016927;hypothetical protein LOC51250;uncharacterized protein C6orf203 protein-coding ENSG00000130349 HGNC:17971 12873 VALIDATED 1343779 C6orf195 chromosome 6 open reading frame 195 INTERACTS WITH atrazine 6 6 6 p25.2 3851932 3864257 - 2622972 2635298 - 2622738 2635064 - 12477932;14574404;14702039;15489334;23251661 154386 Q96MT4 ABBA01048629;AK056496;AL138876;AMYH02012983;BC104007;BC104008;BC104009;CH471087;LN608103;NM_152554 AAI04008;AAI04009;AAI04010;BAB71197;EAW55081;NP_689767;Q96MT4 Hs.680574 FLJ31934;MGC120321;MGC120322;MGC120323;RP11-145H9.2;bA145H9.2 OTTHUMP00000015942;hypothetical protein LOC154386;uncharacterized protein C6orf195 protein-coding ENSG00000164385 HGNC:21600 12870 VALIDATED 1351690 C6orf215 chromosome 6 open reading frame 215 p21.3 16702430;8838313 80866 AB088092;X90534 GT257 miscrna HGNC:30986 1354340 C6orf201 chromosome 6 open reading frame 201 6 6 6 p25.2 5308009 5359561 + 4079440 4131000 + 4079206 4130788 + 12477932;17207965;21832049 404220 B3KW47;B4DXB2;E9PC17;Q7Z4U5 ABBA01021999;AF429972;AK124114;AK301893;AL033383;AMYH02013010;BC047663;BC066986;BI459567;CH471087;NM_001085401;NR_104463;NR_104464;XM_005249111;XM_005249112;XM_006715097 AAH47663;AAH66986;AAP97304;ADQ32979;BAG54009;BAG63324;EAW55155;EAW55156;EAW55157;NP_001078870;Q7Z4U5;XP_005249168;XP_005249169;XP_006715160 Hs.716731;Hs.742216 1658219;1679251;1744295;1744297;2182043 D6S1142E;GDB:451589;GDB:451598;RH70427;RH99317 MGC87625;dJ1013A10.5 OTTHUMP00000213693;OTTHUMP00000213725;hypothetical protein LOC404220;uncharacterized protein C6orf201 protein-coding ENSG00000185689 HGNC:21620 12872 VALIDATED 1602792 C6orf226 chromosome 6 open reading frame 226 INTERACTS WITH aflatoxin B1; benzo[a]pyrene; quercetin 6 6 6 p21.1 44410270 44410821 - 42858003 42858554 - 42890265 42890816 - 6480464 12477932 441150 Q5I0X4 ABBA01050708;AL035587;AMYH02013632;AX061662;BC051007;BC060325;BC073804;BC094854;NM_001008739 AAH60325;AAH73804;AAH94854;ADR82728;CAC25022;NP_001008739;Q5I0X4 Hs.571098 OTTHUMP00000211032;hypothetical protein LOC441150;uncharacterized protein C6orf226 protein-coding ENSG00000221821 HGNC:34431 17403 PROVISIONAL 1353225 C6orf36 chromosome 6 open reading frame 36 p21.3 140785 Z93017 protein-coding HGNC:17979 1605195 C6orf222 chromosome 6 open reading frame 222 ASSOCIATED WITH Melanoma (inferred) 6 6 6 p21.31 37838123 37859251 - 36283534 36304662 - 36315757 36336885 - 8554872 12477932;14574404 389384 P0C671 ABBA01038256;ABBA01038257;AMYH02013553;AMYH02013554;BC140873;BX648558;CH471081;NM_001010903;Z84484 AAI40874;EAX03884;NP_001010903;P0C671 Hs.162104 DKFZp779B1540 OTTHUMP00000216602;hypothetical protein LOC389384;uncharacterized protein C6orf222 protein-coding ENSG00000189325 HGNC:33769 16824 VALIDATED 1313144 C6orf211 chromosome 6 open reading frame 211 INTERACTS WITH copper(2+) sulfate; cyclosporin A; hydrogen peroxide 6 6 6 q25.1 152507286 152525096 + 151773422 151791236 + 151452258 151470101 + 6480464 12477932;14574404;14702039;15489334;17353931;18029348;18978678;21139048;21540461;21552322;21906983;24654937 79624 B4DPT6;F2Z3I8;F5GZY1;Q9H993 ABBA01025635;ABBA01025636;AJ420548;AK022972;AK298490;AK310840;AL110241;AL590543;AMYH02014725;BC011348;CH471051;DB443862;NM_001286562;NM_024573 AAH11348;BAB14339;BAG60698;CAB53692;EAW47744;EAW47745;NP_001273491;NP_078849;Q9H993 Hs.15929 2166922 STS-T85358 DKFZp566I174;FLJ12910 OTTHUMP00000017433;UPF0364 protein C6orf211;hypothetical protein LOC79624 protein-coding ENSG00000146476 HGNC:17872 09854 VALIDATED 1605842 C6orf223 chromosome 6 open reading frame 223 INTERACTS WITH formaldehyde; methyl methanesulfonate; paracetamol 6 6 6 p21.1 45521486 45526844 + 43968337 43973695 + 44000600 44005958 + 6480464 12477932;21757650 221416 Q8N319;V9GYU4 ABBA01050660;AL109615;AMYH02013654;AW136542;BC029071;BC032706;BF515759;BX342526;CH471081;NM_001171992;NM_153246;XM_006715012 AAH29071;AAH32706;ABM87657;ABW03908;ACT64510;ACT64511;EAX04238;EAX04239;NP_001165463;NP_694978;Q8N319;XP_006715075 Hs.531926 MGC45491 OTTHUMP00000217343;OTTHUMP00000217344;hypothetical protein LOC221416;uncharacterized protein C6orf223 protein-coding ENSG00000181577 HGNC:28692 14640 VALIDATED 1606421 C6orf224 chromosome 6 open reading frame 224 q21 11181995;12477932 222521 AK098657;AL109947;BC101714;BC111948;BC143533;CH471051;NM_173559 AAI01715;AAI11949;AAI43534;BAC05368;EAW48336;NP_775830;Q3MIS4 Hs.335027 FLJ25791;MGC126763;MGC138153 protein-coding HGNC:26377 08076 1352614 C6orf43 chromosome 6 open reading frame 43 493815 HGNC:18774 1349360 C6orf42 chromosome 6 open reading frame 42 394256 HGNC:18773 7779583 C6orf229 chromosome 6 open reading frame 229 6 6 24797563 24799540 - 24797321 24798896 - 101928603 H3BNL8 ABBA01066538;AL133264;AL512428;AMYH02013330;AW015999;NM_001282492 H3BNL8;NP_001269421 Hs.635133 uncharacterized protein C6orf229;uncharacterized protein LOC101928603 protein-coding ENSG00000260286 HGNC:49394 VALIDATED 1353882 C6orf50 chromosome 6 open reading frame 50 FOUND IN integral component of membrane (inferred) p25.1 14574404 57052 Q9HD87 AF210650;AL138831 AAF99586;CAI20479;Q9HD87 Hs.150858 KIAA0536;NAG19 protein-coding HGNC:20481 1319485 C6orf57 chromosome 6 open reading frame 57 INVOLVED IN innate immune response (inferred); FOUND IN extracellular region (inferred); mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; benzo[a]pyrene 6 6 6 q13 71665041 71687022 + 71276625 71298606 + 70566922 70588903 + 6480464 12477932;14574404;15489334;17207965;20877624;21490949;24250222 135154 Q5VUM1 ABBA01040269;AL583856;AMYH02013875;BC018085;BC104649;BG703280;CF597237;CH471051;CS300728;NM_145267 AAH18085;AAI04650;ACT64428;ACT64429;ADQ33164;CAK32392;EAW48810;EAW48811;EAW48812;NP_660310;Q5VUM1 Hs.418495 5015861;7185938 D10S16 MGC104225 OTTHUMP00000016704;UPF0369 protein C6orf57;hypothetical protein LOC135154 protein-coding HGNC:20957 12888 VALIDATED 1354388 C6orf25 chromosome 6 open reading frame 25 This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.33 33289386 33291076 + 31691121 31694487 + 31723344 31726710 + 1304532;6480464 10384126 11076863;11544253;12477932;12665801;14574404;14656967;14702039;15848171;17192395;17311996;17678728;18955485;19143814;19851445;19913121;20628086;8889548 80739 B0V023;B7ZLJ5;F8WDG3;O95866 ABBA01038084;AF129756;AJ012008;AJ292259;AJ292260;AJ292261;AJ292262;AJ292263;AJ292264;AJ292265;AK092392;AL662899;AL670886;AL844216;AMYH02013453;BA000025;BC113719;BC113721;BC143850;BU681844;BX248244;CH471081;CR354443;CR759787;CR936239;NG_029044;NM_025260;NM_138272;NM_138273;NM_138274;NM_138275;NM_138277 AAD18075;AAI11843;AAI13720;AAI13722;AAI43851;ADR82871;BAB63378;BAG52544;CAB46080;CAC83496;CAC83497;CAC83498;CAC83499;CAC83500;CAC83501;CAC83502;EAX03492;EAX03493;EAX03494;EAX03495;EAX03496;EAX03497;EAX03498;EAX03499;NP_079536;NP_612116;NP_612117;NP_612118;NP_612119;NP_612121;O95866 Hs.247879 1685714;5014051;5022651;5037552;5493107 D11S2921;D8S2278;D8S2279;RH76564;UniSTS:484317 G6b;MGC142279;MGC142281;NG31 OTTHUMP00000029171;OTTHUMP00000029172;OTTHUMP00000029173;OTTHUMP00000029176;OTTHUMP00000029177;OTTHUMP00000215228;OTTHUMP00000215230;immunoglobulin receptor APPROVED protein-coding ENSG00000204420 HGNC:13937 09405 606520 REVIEWED 1345357 C6orf38 chromosome 6 open reading frame 38 p21 387055 AA913908;AI688709 Hs.369401 C6orf39;bA373N24.1 protein-coding HGNC:18690 1348700 C6orf52 chromosome 6 open reading frame 52 INTERACTS WITH formaldehyde; indometacin; quercetin 6 6 6 p24.1 11900143 11923522 - 10671651 10695030 - 10671418 10694797 - 737633;6480464 12477932 347744 D6RAP8;D6RGE8;Q5T4I8 ABBA01022083;ABBA01022084;AI376550;AI621292;AI809192;AL358777;AMYH02013098;AW183566;AW293245;BC016820;BX280692;CH471087;NM_001145020;NR_026736;NR_026737;XM_006715088;XM_006715089 AAH16820;EAW55264;NP_001138492;Q5T4I8;XP_006715151;XP_006715152 Hs.61389 OTTHUMP00000016016;OTTHUMP00000016017;putative uncharacterized protein C6orf52 protein-coding ENSG00000137434 HGNC:20881 PREDICTED 1354435 C6orf47 chromosome 6 open reading frame 47 FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; copper(2+) sulfate 6 6 6 p21.3 33224296 33226770 - 31626075 31628549 - 31658298 31660772 - 6480464 12477932;14574404;14656967;14667819;15489334;16169070;17081983;18835879;19143821;19851445;19913121;20628086;21890473;2477242;24816145 57827 O95873;Q9UMP7 ABBA01038084;AF129756;AJ245433;AL662801;AL662899;AL670886;AL805934;AMYH02013452;BA000025;BC012950;BC063584;BX511262;CH471081;CR354443;CR753842;CR759761;NM_021184 AAD18083;AAH12950;BAB63388;CAB51603;EAX03465;NP_067007;O95873 Hs.247323 1686830;1773416;2132093;2175166 A007I39;RH78482;RH92454;STS-W74100 D6S53E;G4;NG34 OTTHUMP00000029241;uncharacterized protein C6orf47 protein-coding ENSG00000204439 HGNC:19076 12883 VALIDATED 1350193 C6orf58 chromosome 6 open reading frame 58 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; arsane; arsenic atom 6 6 6 q22.33 128640558 128655201 + 127898319 127912963 + 127577174 127591818 + 6480464;8554872 12477932;14574404;15489334;16740002;19056867 352999 Q6P5S2 ABBA01025929;AK303850;AL583806;AMYH02014452;BC062712;CH471051;KF458276;NM_001010905 AAH62712;BAG64792;EAW48094;NP_001010905;Q6P5S2 Hs.226268 MGC72003 OTTHUMP00000017176;UPF0762 protein C6orf58;hypothetical protein LOC352999 protein-coding ENSG00000184530 HGNC:20960 17379 VALIDATED 1345123 C6orf92 chromosome 6 open reading frame 92 387076 HGNC:21164 1353600 C6orf7 chromosome 6 open reading frame 7 6 6 q14 80513304 80580137 - 79803587 79870420 - 20522523;23669352 89758 ABBA01040419;AL078462;AL132875;AL590241;AMYH02013973;AMYH02013974;AMYH02013975;HG499407;NM_001243308 NP_001230237 Hs.288213 RP1-159G19.1 hypothetical protein LOC89758;uncharacterized protein LOC89758 protein-coding HGNC:14109 VALIDATED 1354353 C6orf98 chromosome 6 open reading frame 98 q25.1 387079 NM_001099267 NP_001092737 dJ45H2.2 protein-coding HGNC:21178 1344247 C6orf48 chromosome 6 open reading frame 48 INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3-dimethoxynaphthalene-1,4-dione; arsenous acid 6 6 6 p21.3 33400945 33405790 + 31802693 31807541 + 31834915 31839766 + 6480464 12477932;14759258;19167051;19851445;19913121;20041166;20628086;23079975;23382691;8096093;8889548;8889549 50854 Q9UBA6 AA720680;ABBA01038089;AJ249731;AJ249732;AK311989;AL521625;AL556045;AL662834;AL671762;AL929592;AMYH02013456;BA000025;BC000706;BC017660;BC066330;BG109213;BG116666;BI114651;BJ996767;BM690817;BQ920527;BT007334;CD247791;CD249104;CH471081;CR388202;CR759915;HY060373;N91812;NM_001040437;NM_001040438;NM_001287482;NM_001287483;NM_001287484;NM_001287485;NM_001287486;NM_001287487;NM_001287488;W52524 AAH00706;AAH17660;AAP35998;ADZ15651;BAB63298;CAB56506;CAB56507;CAB56508;EAX03530;EAX03531;EAX03532;EAX03533;EAX03534;EAX03535;NP_001035527;NP_001035528;NP_001274411;NP_001274412;NP_001274413;NP_001274414;NP_001274415;NP_001274416;NP_001274417;Q9UBA6 Hs.640836;Hs.714250 1650615;2131873;2155308;5115473 G30247;RH41849;RH46105;RH47136 D6S57;G8 OTTHUMP00000029249;OTTHUMP00000029250;OTTHUMP00000029251;OTTHUMP00000029252;OTTHUMP00000029253;OTTHUMP00000029254;OTTHUMP00000029256;OTTHUMP00000174626 protein-coding ENSG00000204387 HGNC:19078 12015 605447 VALIDATED 1347069 C6orf62 chromosome 6 open reading frame 62 FOUND IN intracellular; INTERACTS WITH 5-azacytidine; arsane; arsenic atom 6 6 6 p22.3 25938465 25952778 - 24705089 24721064 - 24704861 24720836 - 737633;6480464 12477932 11230166;11256614;14574404;14702039;15489334;16169070;19322201 81688 B4DWX7;Q9GZU0 AB075502;ABBA01066538;AJ420475;AK022681;AK301718;AL031775;AL133264;AL136632;AMYH02013327;AY598792;BC040260;BC047866;CH471087;CR457292;CR533486;NM_030939;XM_005249433 AAH47866;AAT09203;ACE86559;ACE87241;BAB14175;BAE45752;BAG63189;CAB66567;CAG33573;CAG38517;EAW55461;EAW55462;EAW55463;EAW55464;NP_112201;Q9GZU0;XP_005249490 Hs.744857 1693744;1735590;1768687;1792864;2133526;2173311;5017801 C6orf62;D6S1127E;PMC166143P4;RH44630;RH68224;SGC33935;SHGC-58818 DKFZp564G182;FLJ12619;Nbla00237;XTP12;dJ30M3.2 HBV X-transactivated gene 12 protein;HBV X-transactivated protein 12;HBV XAg-transactivated protein 12;OTTHUMP00000016093;OTTHUMP00000016094;hypothetical protein LOC81688;uncharacterized protein C6orf62 protein-coding HGNC:20998 12891 VALIDATED 1347534 C6orf61 chromosome 6 open reading frame 61 ENCODES a protein that exhibits ATP binding (inferred); DNA binding (inferred); helicase activity (inferred); INVOLVED IN cellular response to DNA damage stimulus; double-strand break repair via homologous recombination; female gamete generation (ortholog); FOUND IN MCM8-MCM9 complex q22.31 14574404;14702039;16226853 54844 AK000177;AL132874;BN000882;XM_927492 BAA90991;CAC05409;CAJ70648;Q2KHJ0;Q8N5S5;Q9NXL9;XP_932585 Hs.279008 FLJ20170;MCM9;dJ329L24.1 protein-coding HGNC:18148 1350961 C6orf99 chromosome 6 open reading frame 99 6 6 6 q25.3 159957470 159979248 + 159290887 159331385 + 158869855 158910354 + 14574404 100130967 Q4VX62 ABBA01021075;ABBA01021076;AL627422;AMYH02014859;AW138390;BF688381;LN608119;LN608120;NM_001195032;XM_005266787;XM_005266788;XM_005266789;XM_006715297 NP_001181961;Q4VX62;XP_005266844;XP_005266845;XP_005266846;XP_006715360 Hs.32804 1680054;2131466 RH99275;SHGC-57156 yR211F11.1 OTTHUMP00000017513;putative uncharacterized protein C6orf99 protein-coding HGNC:21179 PREDICTED 1351072 C7orf13 chromosome 7 open reading frame 13 FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; diazinon; hydrogen peroxide 7 7 7 q36.3 150858250 150860538 - 156431060 156433348 - 156638366 156640654 - 6480464 11890671;12477932;12690205;14702039 129790 Q8NI28;Q9H3I6 ABBA01032376;AC005534;AF063598;AF439977;AI168080;AK056371;AMYH02017148;BC031037;BC050364;BC070228;CH236954;CH471149;NR_026865 AAG43157;AAM33252;EAL23919;EAX04550;Q8NI28 Hs.647014 MY040 ncrna ENSG00000182648 HGNC:17126 12908 610242 VALIDATED 1348833 C6orf89 chromosome 6 open reading frame 89 INVOLVED IN epithelial cell proliferation; positive regulation of cell cycle; wound healing; FOUND IN cytoplasm; plasma membrane; INTERACTS WITH atrazine; methyl methanesulfonate; paracetamol 6 6 6 p21.2 38408678 38451782 + 36853640 36896740 + 36871870 36928964 + 6480464 11076863;11230166;12477932;12975309;14574404;14702039;15489334;15489336;16381901;17461456;21857995;21890473;21906983;22268729;22930588;23460338 221477 B7Z9L9;Q5TDC5;Q5TDC7;Q6UWU4;Q96LN2 ABBA01038267;ABBA01038268;AJ420498;AJ420511;AK001957;AK025213;AK058086;AK172780;AK300351;AK315984;AL122034;AMYH02013558;AMYH02013559;AY358637;BC009380;BC021804;BC023605;BC032796;BC050582;BC095423;BC105946;BC105947;BC107489;BX538108;BX647220;CH471081;DQ487761;FR832871;FR832872;NM_001286635;NM_001286636;NM_001286637;NM_152734;XM_006715017 AAH23605;AAH95423;AAI05947;AAI05948;AAI07490;AAQ89000;ABF61801;BAB71656;BAD18761;BAG62093;BAH14355;CAD98021;CAL38248;CCA30148;CCA30149;EAX03919;EAX03920;EAX03921;EAX03922;NP_001273564;NP_001273565;NP_001273566;NP_689947;Q6UWU4;XP_006715080 Hs.433381 1661067;1666292;1672555;1682451;1688078;1728131;1779184;2128187;2182637;2187817;5020948;5109281 D1S1425;D6S1286;G35510;G63337;G69466;RH35893;RH46642;RH79658;RH94301;SHGC-33920;STS-R62412;WI-14896 BRAP;FLJ25357;MGC126060;MGC126061;MGC126062 OTTHUMP00000016311;OTTHUMP00000016312;OTTHUMP00000016313;amfion;bombesin receptor activated protein;bombesin receptor-activated protein C6orf89;hypothetical protein LOC221477;uncharacterized protein C6orf89 protein-coding ENSG00000198663 HGNC:21114 12905 VALIDATED 1349806 C7orf31 chromosome 7 open reading frame 31 INTERACTS WITH amiodarone; trichostatin A 7 7 7 p15.3 25163708 25209272 - 25164819 25219966 - 25125200 25180347 - 6480464 12477932;12853948;14702039;15489334;21832049;25074808;9847074 136895 C9J431;C9JF06;C9JTB1;Q8N865 ABBA01056732;AC004129;AK097248;AK098189;AMYH02015384;BC015397;BC043269;BC060879;BI830207;BX640851;CH236948;CH471073;NM_138811;XM_005249619;XM_005249620;XM_005249622 AAH15397;AAH43269;AAH60879;AAP22338;ADZ15585;BAC04985;BAC05255;CAE45919;EAL24238;EAW93825;EAW93826;EAW93827;EAW93828;NP_620166;Q8N865;XP_005249676;XP_005249677;XP_005249679 Hs.122055 2177964 GDB:1317782 OTTHUMP00000158611;OTTHUMP00000202039;hypothetical protein LOC136895;uncharacterized protein C7orf31 protein-coding ENSG00000153790 HGNC:21722 12919 VALIDATED 1317752 C7orf25 chromosome 7 open reading frame 25 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; elemental selenium 7 7 7 p14.1 42939193 42942010 - 42948223 42951689 - 42908726 42912090 - 6480464;8554872 12446740;12477932;16169070;17207965;21900206;24816145;8125298 79020 C9JF90;C9K0L6;Q9BPX7 ABBA01058178;AC010132;AK024820;AK225194;AK298865;AMYH02015604;BC000769;BC001845;CH236951;CH471073;DC303669;DC366585;NM_001099858;NM_024054;XM_005249844 AAH00769;AAH01845;ADQ31787;BAB15019;BAG60985;EAL24004;EAW94148;EAW94149;EAW94150;NP_001093328;NP_076959;Q9BPX7;XP_005249901 Hs.698120 1676568 RH94241 FLJ21167;MGC2821 OTTHUMP00000159093;OTTHUMP00000207371;OTTHUMP00000207372;OTTHUMP00000207374;OTTHUMP00000207375;UPF0415 protein C7orf25;hypothetical protein LOC79020 protein-coding ENSG00000136197 HGNC:21703 09861 VALIDATED 1342559 C7orf33 chromosome 7 open reading frame 33 INTERACTS WITH benzo[a]pyrene 7 7 7 q36.1 142958374 142983626 + 148287657 148312952 + 148590565 148615860 + 6480464 12477932;12690205;15489334 202865 Q8WU49 AACC02000041;ABBA01033596;AC005229;AMYH02017025;BC021251;CH471146;NM_145304 AAH21251;ADZ15654;EAL24420;EAW80075;EAW80076;EAW80077;NP_660347;Q8WU49 Hs.352212 2147894 GDB:3755045 OTTHUMP00000202308;hypothetical protein LOC202865;uncharacterized protein C7orf33 protein-coding ENSG00000170279 HGNC:21724 12921 PREDICTED 1317399 C7 complement component 7 C7 is a component of the complement system. It participates in the formation of Membrane Attack Complex (MAC). People with C7 deficiency are prone to bacterial infection. [provided by RefSeq, Jul 2008] 5 5 5 p13 40798197 40871625 + 40909599 40983041 + 40909497 40982939 + 1599528;1599522;1599523;1580863;6480464;6907045;7240710;8554872;8699517 12574424;15724448;6241952 10551839;10882776;10886241;11378347;12477932;12595902;1387399;14760718;1517503;15383587;15489334;15879120;15889368;16335952;1672663;17266113;18029348;18842294;19162005;19179470;19221116;19344414;19419965;19423540;19834535;19864026;19913121;19931914;20237496;20406964;20438785;20628086;21881993;22206826;23943762;2792129;3052276;3335508;7523157;7730625;7814888;8345200;8364540;8814254;8871666;8892662;9218625;9856499 730 P10643;Q05CI3 ABBA01024227;AC026732;AC114967;AK290349;AK304848;AK312737;AMYH02011216;AMYH02011217;AMYH02011218;AMYH02011219;BC025402;BC041807;BC063851;BC065305;CH471119;J03507;NG_011692;NM_000587;X86328;X86344;Y11720 AAA51861;AAH25402;AAH63851;ADR82762;BAF83038;BAG35608;BAG65588;CAA60121;CAA72407;EAW56007;EAW56008;NP_000578;P10643 Hs.78065 1681356;1745113;1745535;1745537;1795458;2132758 C7_298;D5S2658;GDB:594803;GDB:623672;GDB:623675;RH80221 OTTHUMP00000197104;complement component C7 APPROVED protein-coding ENSG00000112936 HGNC:1346 01957 217070;610102 REVIEWED 1602100 C7orf49 chromosome 7 open reading frame 49 FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 7 7 7 q33 129588008 129593008 - 134850532 134855578 - 135165780 135170826 - 6480464 12477932;12690205;15342556;16344560;17043244;24816145;8889548 78996 C9JKC7;Q9BWK5 ABBA01001113;AC083862;AI632984;AK026103;AK130795;AL708733;AMYH02016813;AMYH02016814;BC000168;BC067350;BE674385;BG770658;BM727569;BP213903;BQ423284;CB961457;CH236950;CH471070;DA213716;DB129229;NM_001243749;NM_001243751;NM_001243752;NM_001243753;NM_001243754;NM_001243755;NM_024033 AAH00168;AAH67350;BAC85431;EAL24064;EAW83840;EAW83841;NP_001230678;NP_001230680;NP_001230681;NP_001230682;NP_001230683;NP_001230684;NP_076938;Q9BWK5 Hs.732134;Hs.744954 1685542;1697316;1735648 D7S2063E;RH102155;RH80739 FLJ22450;FLJ27285;MGC5242;MRI OTTHUMP00000208012;OTTHUMP00000208013;modulator of retrovirus infection homolog protein-coding ENSG00000122783 HGNC:22432 08333 VALIDATED 1345356 C7orf34 chromosome 7 open reading frame 34 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 7 7 7 q34 137473461 137474817 + 142636603 142637957 + 142939506 142940870 + 737633;8554872 12477932 12690205;15489334;16189514 135927 Q96L11 AB083483;AB083484;ABBA01034131;AC099652;AC245136;AI990561;BC014596;CH236959;CH471198;NG_007492;NM_178829 AAH14596;BAB88941;BAB88942;EAL23778;EAW51894;EAW51895;NP_849151;Q96L11 Hs.239676 1683235;2121871 D7S2887;RH99241 ctm-1 MSSP-binding protein CTM-1;OTTHUMP00000202176;hypothetical protein LOC135927;uncharacterized protein C7orf34 protein-coding ENSG00000165131 HGNC:21750 12922 VALIDATED 1603950 C7orf50 chromosome 7 open reading frame 50 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH arsane; arsenic atom; benzene 7 7 7 p22.3 1004263 1143944 - 1036623 1177911 - 996987 1138275 - 6480464;8554872 12477932;15146197;16189514;16196087;16341674;18482256;19471022;19953087;20834067;21139048;21145461;21832049;21907836;22990118;23940030;24097068;24332808;24457600;24778252;8889548 84310 C9JQV0;H7C0T1;H7C2R9;Q9BRJ6 ABBA01039315;ABBA01039316;ABBA01039317;ABBA01039318;ABBA01039319;ABBA01039320;AC073957;AC091729;AF495721;AMYH02015037;AMYH02015038;AMYH02015039;BC006224;BC025971;BM676072;BM763235;CH236953;CH236965;CH471144;CN261680;NM_001134395;NM_001134396;NM_032350;XM_005249886;XM_005249887;XM_005249888;XM_005249889;XM_006715793 AAH06224;AAH25971;AAQ06675;EAW87188;EAW87189;EAW87190;NP_001127867;NP_001127868;NP_115726;Q9BRJ6;XP_005249943;XP_005249944;XP_005249945;XP_005249946;XP_006715856 Hs.653258;Hs.732316 1697044;1765393;1765933;1774795;1775742;1797604;1856229;2120030;2135708;2142692;2166947;2167318;5017686 D7S2090E;D7S2826;GPR146_2063;GPR30;RH102001;RH11876;RH65680;RH70704;SHGC-148880;SHGC-149337;SHGC-32510;SHGC-34866;STS-N27306 MGC11257;YCR016W OTTHUMP00000200082;OTTHUMP00000200083;OTTHUMP00000200084;OTTHUMP00000200094;OTTHUMP00000213381;hypothetical protein LOC84310;hypothetical protein mgc11257;uncharacterized protein C7orf50 protein-coding ENSG00000146540 HGNC:22421 14413 VALIDATED 1317382 C7orf26 chromosome 7 open reading frame 26 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (S)-colchicine; adenine; cisplatin 7 7 7 p22.1 6086824 6105263 - 6629681 6648357 + 6590277 6608726 + 6480464;8554872 12477932;14702039;15489334;16169070;20133760;21907836 79034 H7BZK9;H7C0Q5;Q96N11 ABBA01056495;ABBA01056496;AC079742;AK056149;AMYH02015178;BC001076;BC005121;CH236963;CH878731;NM_024067;XM_005249845;XR_242101 AAH01076;AAH05121;BAB71104;EAW55021;EAW55022;NP_076972;Q96N11;XP_005249902 Hs.487511 1670640;1847113;2117094;2120538;2131161;2142035;2142037 A008D23;D7S2646;GDB:4585098;RH12045;RH48523;SHGC-55949;STS-Z41394 MGC2718 OTTHUMP00000155172;OTTHUMP00000200655;hypothetical protein LOC79034;uncharacterized protein C7orf26 protein-coding ENSG00000146576 HGNC:21702 12913 PROVISIONAL 7255398 C7orf55-LUC7L2 C7orf55-LUC7L2 readthrough This locus represents naturally occurring readthrough transcription between the neighboring C7orf55 (chromosome 7 open reading frame 55) and LUC7L2 (LUC7-like 2) genes on chromosome 7. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2012] 7 7 q 139025878 139108203 + 139341132 139423457 + 6480464;8554872 12853948;20967262;9847074 100996928 F8WEU3;Q96HJ9;V9GZ75 ABBA01001188;AC083880;AC083883;AK297642;AMYH02016884;AMYH02016885;AMYH02016886;NM_001244584 BAH12639;NP_001231513 Hs.731488 1674956 SGC30686 protein-coding HGNC:44671 VALIDATED 2303475 C7orf65 chromosome 7 open reading frame 65 7 7 7 p12.3 47795219 47801624 + 47694842 47701246 + 47655244 47661648 + 12690205;16344560 401335 Q6ZTY9 ABBA01041094;AC095067;AK126096;AMYH02015659;CH236958;DB341636;LN608143;NM_001123065 BAC86438;EAL23804;NP_001116537;Q6ZTY9 Hs.520816 5015619;5022578;5037552 D11S3114;D1S1423;D8S2279 FLJ44108 protein;OTTHUMP00000208225;hypothetical protein LOC401335;uncharacterized protein C7orf65 protein-coding HGNC:34432 VALIDATED 1605367 C7orf43 chromosome 7 open reading frame 43 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH elemental selenium; selenium atom; cadmium dichloride (ortholog) 7 7 7 q22.1 94487394 94491646 - 99752043 99756338 - 100154420 100158679 - 6480464;8554872 11076863;11230166;11256614;12477932;12690205;14702039;15489334;15489336;16169070;16381901;24255178 55262 B3KNS5;C9JMZ9;E9PFF9;F8WFE0;H0Y452;H7C1F8;Q8WVR3 ABBA01013231;ABBA01013232;AC073842;AK001787;AK054872;AK302342;AK310170;AL136555;AMYH02016374;BC002749;BC015722;BC094727;CH236956;CH471091;NM_018275 AAH02749;AAH15722;BAA91911;BAG51437;BAG63670;CAB66490;CAL37853;EAL23848;EAW76580;EAW76581;EAW76582;EAW76583;NP_060745;Q8WVR3 Hs.533139 1774863;2134644 D7S2925;WI-20780 DKFZp761G0712;FLJ10925 OTTHUMP00000206833;OTTHUMP00000206843;OTTHUMP00000206870;hypothetical protein LOC55262;uncharacterized protein C7orf43 protein-coding ENSG00000146826 HGNC:25604 07716 PREDICTED 1603879 C7orf62 chromosome 7 open reading frame 62 7 7 7 q21.13 83128231 83129842 - 88423420 88425031 - 88794106 88795717 - 12477932;12690205;17207965;22493691 219557 Q8TBZ9 ABBA01045858;AC002127;AMYH02016229;BC028365;CH236949;CH471091;HC007144;HC044757;NM_152706 AAH28365;ADQ31577;CBH19377;CBH30708;EAL24169;EAW76902;NP_689919;Q8TBZ9 Hs.112877 MGC26647 OTTHUMP00000204499;hypothetical protein LOC219557;uncharacterized protein C7orf62 protein-coding ENSG00000164645 HGNC:22402 14507 VALIDATED 1606951 C7orf60 chromosome 7 open reading frame 60 ENCODES a protein that exhibits rRNA (adenine) methyltransferase activity (inferred); INVOLVED IN rRNA methylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; formaldehyde; quercetin 7 7 7 q31.1 107271822 107392595 - 112459202 112579932 - 112819147 112939877 - 6480464;8554872 12477932;14702039;16344560;18951430;20379614;24250222 154743 H0Y6Y0;Q1RMZ1 ABBA01057838;ABBA01057839;ABBA01057840;ABBA01057841;AC018464;AC073183;AF274937;AK056380;AK299901;AL834437;AMYH02016588;AMYH02016589;AMYH02016590;BC114615;CH236947;CH471070;DA738444;KF458556;NM_152556 AAI14616;BAB71169;BAG61743;CAD39097;EAW83473;EAW83474;NP_689769;Q1RMZ1 Hs.489734 1852676;2147601 D7S2885;G17120 FLJ31818 OTTHUMP00000207494;OTTHUMP00000207495;UPF0532 protein C7orf60;hypothetical protein LOC154743;probable methyltransferase BTM2 homolog protein-coding ENSG00000164603 HGNC:26475 08108 VALIDATED 1606950 C7orf55 chromosome 7 open reading frame 55 FOUND IN mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; cyclosporin A; hydrogen peroxide 7 7 7 q34 133764065 133768709 + 139025196 139031065 + 139340450 139346319 + 6480464 11076863;12477932;12853948;14702039;15489336;16381901;16712791;20877624;21890473;24816145;8889548 154791 Q96HJ9 AA393224;AA620996;ABBA01001188;AC083880;AF161386;AK093018;AMYH02016884;AMYH02016885;BC008467;BI117784;BM672187;BU852633;CB125801;CH236950;CH471070;NG_030012;NM_197964;NR_073058;NR_073059;NR_073060 AAF28946;AAH08467;AAS07478;ABM84075;ABM87443;CAL38025;EAW83912;EAW83913;EAW83914;EAW83915;NP_932068;Q96HJ9 Hs.718441 1650458;5015619;5015961;5022322;5022651;5024756;5037552 D11S2560;D11S2921;D11S3114;D15S1477;D8S2279;RH80030;SHGC-56728 FLJ35699;FMC1;HSPC268 OTTHUMP00000200424;UPF0562 protein C7orf55;formation of mitochondrial complexes 1 homolog protein-coding ENSG00000164898 HGNC:26946 13714 VALIDATED 1642900 C7orf57 chromosome 7 open reading frame 57 INTERACTS WITH copper atom; copper(0); valproic acid 7 7 7 p12.3 48174395 48200108 + 48075108 48100894 + 48035511 48061297 + 6480464 12477932;19193627;20379614 136288 C9JQZ6;F5H7J8;J3KQX6;Q86XB5;Q8NEG2 ABBA01041079;ABBA01041080;AC069279;AMYH02015666;BC031107;BC045737;BI560654;CH236958;NM_001100159;NM_001267865;NM_001267866;XM_006715649;XM_006715650 AAH31107;AAH45737;NP_001093629;NP_001254794;NP_001254795;Q8NEG2;XP_006715712;XP_006715713 Hs.258357 OTTHUMP00000208687;OTTHUMP00000208689;OTTHUMP00000208690;hypothetical protein LOC136288;uncharacterized protein C7orf57 protein-coding ENSG00000164746 HGNC:22247 VALIDATED 1606444 C7orf66 chromosome 7 open reading frame 66 FOUND IN integral component of membrane (inferred); INTERACTS WITH cadmium atom 7 7 7 q31.1 103336979 103337578 - 108524038 108524637 - 108883981 108884580 - 6480464 12690205;22006218;22219177;9887257 154907 A4D0T2 ABBA01057887;AC004014;AMYH02016535;CH236947;NM_001024607 A4D0T2;EAL24381;NP_001019778 Hs.276325 1704602 SHGC-83114 OTTHUMP00000206841;Putative uncharacterized protein LOC154907;hypothetical protein LOC154907;uncharacterized protein C7orf66;uncharacterized protein LOC154907-like protein-coding ENSG00000205174 HGNC:33712 18563 PREDICTED 1604426 C7orf76 chromosome 7 open reading frame 76 7 7 7 q21.3 90810971 90832868 - 96110938 96132835 - 96481626 96503523 - 12477932;19801982;22504420;24249740 401388 B7ZVW6;Q6ZVN7 ABBA01045766;AC092031;AK124274;AMYH02016307;AMYH02016308;BC140736;BC171740;CH236949;NM_001201450;NM_001201451 AAI40737;AAI71740;BAC85824;NP_001188379;NP_001188380;Q6ZVN7 Hs.734935 hypothetical protein LOC401388;putative uncharacterized protein C7orf76;putative uncharacterized protein FLJ42280 APPROVED protein-coding ENSG00000127922 HGNC:33815 16959 VALIDATED 2902413 C7orf72 chromosome 7 open reading frame 72 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH phenacetin (ortholog); phenylhydrazine (ortholog) 7 7 7 p12.2 50229773 50293484 + 50135682 50198852 + 50096086 50159256 + 6480464;8554872 12690205;12853948;20379614 100130988 A4D263 ABBA01008171;AC020743;AC034148;AI696031;AMYH02015687;AMYH02015688;AMYH02015689;BX092263;CH236955;DY654485;NM_001161834 A4D263;EAL23902;NP_001155306 Hs.99248 OTTHUMP00000208843;hypothetical protein LOC100130988;uncharacterized protein C7orf72 protein-coding HGNC:22564 VALIDATED 1602147 C7orf61 chromosome 7 open reading frame 61 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); Aroclor 1254 (ortholog); benzo[a]pyrene (ortholog) 7 7 7 q22.1 94784037 94791693 - 100054238 100062063 - 100456615 100464271 - 6480464;8554872 12477932;12690205;17207965 402573 H7C3K1;Q8IZ16 ABBA01013210;ABBA01013211;ABBA01013212;ABBA01013213;AC092849;AMYH02016380;BC031966;CH236956;NM_001004323 AAH31966;ADQ32435;EAL23832;NP_001004323;Q8IZ16 Hs.632306 1339079;1652662;1682351;1759619;7187384 D7S2480;GDB:1317218;RH92106;SHGC-153234 OTTHUMP00000196705;hypothetical protein LOC402573;uncharacterized protein C7orf61 protein-coding ENSG00000185955 HGNC:22135 17558 PREDICTED 1605032 C7orf69 chromosome 7 open reading frame 69 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 7 7 7 p12.3 47933226 47957778 + 47834889 47859445 + 47795291 47819847 + 8554872 12477932;12690205;12853948 80099 C9JS17;Q9H7B7 ABBA01041084;AC019066;AC069282;AK024728;AMYH02015660;BC113679;BC113681;CA420605;CH236958;CH471128;LN608144;LN608145;NM_025031 AAI13680;AAI13682;AAS07564;BAB14977;EAL23806;EAW61008;NP_079307;Q9H7B7 Hs.287647 FLJ21075 OTTHUMP00000208381;hypothetical protein LOC80099;uncharacterized protein C7orf69 protein-coding HGNC:21911 08635 VALIDATED 1352401 C8orf16 chromosome 8 open reading frame 16 p23.1 83735 AF131215;AJ312026;CH471157;NM_001014439 CAC84873;EAW65603;NP_001014439;Q8TCU9 Hs.660259 miscrna HGNC:15628 18701 1605484 C8orf15 chromosome 8 open reading frame 15 p23.1 12477932 439940 AF131215;AJ312027;BC132953;BC132979;CH471157;NM_001033662 AAI32954;AAI32980;CAC84874;EAW65602;NP_001028834;Q8TCU8 Hs.661517 protein-coding HGNC:15627 1319211 C8G complement component 8, gamma polypeptide The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011] 9 9 9 q34.3 110353929 110355658 + 139839333 139841426 + 136944885 136946974 + 1580863;6480464;6907045 10387094;11041874;11058761;12033936;12220191;12413696;12477932;15164053;16341674;16618117;16935577;1707134;17452033;18440555;19048311;19423540;20406964;20438785;2446620;2447883;3052276;3676249;8172891;8865989;9476128 733 P07360;Q5SQ08 ABBA01022733;AL807752;AMYH02021914;AW663384;BC113624;BC113626;BM852158;BX282392;CH471090;M17263;M17999;NG_029580;NM_000606;U08198;X06465;XR_245338 AAA18482;AAA51863;AAA51888;AAI13625;AAI13627;ADR83494;CAA29773;EAW88316;NP_000597;P07360 Hs.1285 2158636;5492759;5493443 UniSTS:482381;UniSTS:486325;WI-6981 C8C;MGC142186 OTTHUMP00000022634;complement component C8 gamma chain APPROVED protein-coding ENSG00000176919 HGNC:1354 00407 120930 REVIEWED 5480038 C7orf73 chromosome 7 open reading frame 73 FOUND IN extracellular region (inferred); INTERACTS WITH copper atom; copper(0); valproic acid 7 7 7 q33 130084680 130098619 + 135347221 135361160 + 135662473 135676412 + 6480464 12477932;16344560;17720804;8889548 647087 E0CX11 ABBA01001123;ABBA01001124;AC091736;AC093107;AMYH02016822;BC016741;BC021734;BC031327;BC047474;BC063529;BC073942;BC107765;BM979743;CH236950;DA785733;NM_001130929 E0CX11;NP_001124401 Hs.200022 1643939;1682245;1744281;1762395;1776607 GDB:451559;RH26240;RH68700;SHGC-146230;STS-H98777 PL-5283 OTTHUMP00000221117;uncharacterized protein C7orf73 protein-coding ENSG00000243317 HGNC:41909 VALIDATED 1352674 C8B complement component 8, beta polypeptide This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 1 1 1 p32.2 55679648 55716484 - 57394883 57433213 - 56929210 56968277 - 1600501;1580863;6480464;6907045;7240710;8554872;8699517 7515561 10387094;10551839;11041874;12220191;12413696;12477932;1360193;16199891;16335952;16618117;16624411;16710414;18842294;19162005;19344414;19423540;19864026;20237496;20406964;20438785;21073882;21454577;2284574;2571125;2613233;2759635;2820472;3052276;3171181;3435043;3624872;3651397;3676249;3879968;451601;468996;6415112;7440581;7594510;7710765;8020197;8098723;8131848;8345200;8365729;9165271;9476128;9476133 732 B7Z550;B7Z555;F5GY80;F5H7G1;P07358;Q05CV3 ABBA01074676;AK292740;AK298425;AK298444;AK313382;AK316209;AL121998;AL161740;AMYH02001081;BC020701;BC130575;CD364465;CH471059;M16973;NG_007285;NM_000066;NM_001278543;NM_001278544;X04393;XM_005271166;XM_006710873 AAA51862;AAH20701;AAI30576;ADR83218;BAF85429;BAG36180;BAH12786;BAH12791;BAH14580;CAA27981;EAX06641;EAX06642;EAX06643;NP_000057;NP_001265472;NP_001265473;P07358;XP_005271223;XP_006710936 Hs.391835 1652324;1658705;1669058;1722349;1742987;1743585;1777699;2120524;2172444;2178855 D1S519;G60243;GDB:228022;GDB:352688;L17910;SHGC-33530;SHGC-74868;SHGC-74885;SHGC-74888;WI-8974 C82;MGC163447 OTTHUMP00000010015;complement component 8 subunit beta;complement component C8 beta chain APPROVED protein-coding ENSG00000021852 HGNC:1353 00410 120960;613789 REVIEWED 3030166 C7orf71 chromosome 7 open reading frame 71 7 7 7 p15.2 26666461 26675896 + 26677490 26686924 + 26637871 26647305 + 12107410;12477932;12690205;14702039 285941 A4D174 ABBA01056751;AC003999;AK093321;AMYH02015399;AMYH02015400;BC112220;BC112222;BC143810;CA390440;CH236948;LN608132;NM_001145531;XM_005249717 A4D174;EAL24232;NP_001139003;XP_005249774 Hs.413394 1652932 STS-N29318 OTTHUMP00000202568;hypothetical protein LOC285941;putative uncharacterized protein C7orf71;uncharacterized protein LOC285941 protein-coding ENSG00000222004 HGNC:22364 PREDICTED 1354286 C8orf17 chromosome 8 open reading frame 17 FOUND IN endoplasmic reticulum (inferred); membrane (inferred) 56988 Q9NRJ1 AF220264;NM_020237 HGNC:17737 1318077 C8A complement component 8, alpha polypeptide C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008] 1 1 1 p32 55604960 55668425 + 57320443 57383894 + 56854770 56918221 + 1600501;1580863;6480464;6907045;7240710;8699517;8554872 7515561 10387094;10551839;11041874;11297196;12220191;12413696;12463754;12477932;1551680;16335952;16618117;16710414;16761437;16935577;17872444;18440555;18842294;19048311;19423540;19913121;20237496;20379614;20406964;20438785;20628086;21507937;2820471;3052276;3171181;3624872;4063341;6771072;7440581;7544344;7649542;7759071;9647238;9759902 731 P07357;Q05CV2 ABBA01074676;AK309596;AL121998;AMYH02001081;BC020702;BC132911;BC132913;CH471059;M16974;NG_012049;NM_000562;U08006 AAA52200;AAA82124;AAH20702;AAI32912;AAI32914;ADR83082;EAX06644;EAX06645;EAX06646;NP_000553;P07357 Hs.93210 1658627;1709886;1718245;1760639;1797340;2159336;2163445 C8A_1366;D1S3432;RH122892;RH17669;RH64775;SHGC-144179;SHGC-84784 OTTHUMP00000010016;complement component 8 subunit alpha;complement component C8 alpha chain APPROVED protein-coding ENSG00000157131 HGNC:1352 00409 120950;613790 REVIEWED 2300133 C8orf29 chromosome 8 open reading frame 29 p12 552863 BQ426089 Hs.583797 protein-coding HGNC:15681 2300134 C8orf28 chromosome 8 open reading frame 28 q21.3 552862 BI767459 Hs.674222 protein-coding HGNC:25912 1606663 C8orf31 chromosome 8 open reading frame 31 INTERACTS WITH all-trans-retinoic acid 8 8 8 q24.3 140430937 140445971 + 144120679 144135720 + 143039262 143054303 + 6480464 12477932;14702039 286122 Q8N9H6 ABBA01005274;ABBA01005275;AC083982;AC236721;AK094450;AMYH02018932;BC063497;BC073830;BC120993;CH471162;NM_173687;XM_006716544;XM_006725097 AAH73830;BAC04358;EAW82281;EAW82282;EAW82283;NP_775958;Q8N9H6;XP_006716607;XP_006725160 Hs.660382 5037552 D8S2279 FLJ37131;MGC90155 OTTHUMP00000227437;hypothetical protein LOC286122;uncharacterized protein C8orf31 protein-coding HGNC:26731 08781 PREDICTED 1349468 C8orf22 chromosome 8 open reading frame 22 INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; silicon dioxide 8 8 8 q11 45972114 45975853 + 49966895 49988642 + 49054336 49076083 + 6480464;8554872 11329013;12477932;15489334;16344560 492307 Q8WWR9 ABBA01041660;AC044893;AJ276240;AMYH02017947;BC017981;BG202040;BX500169;CH471068;DA820911;DA900243;NM_001007176;NM_001256596;NM_001256597;NM_001256598 AAH17981;ACT64579;ACT64580;CAC81690;EAW86701;EAW86702;EAW86703;NP_001007177;NP_001243525;NP_001243526;NP_001243527;Q8WWR9 Hs.49890;Hs.741050 1700524;1735446;1735740 D5S1577E;D8S1355E;RH103883 OTTHUMP00000226209;OTTHUMP00000226210;OTTHUMP00000226211;OTTHUMP00000226294;exocrine differentiation and proliferation factor-like protein;pancreatic progenitor cell differentiation and proliferation factor-like protein protein-coding ENSG00000168333 HGNC:31745 16670 VALIDATED 1346279 C8orf4 chromosome 8 open reading frame 4 This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011] 8 8 8 p11.2 38962805 38964636 + 40010987 40012827 + 40153468 40155308 + 6480464 11056052;12477932;15087392;15185345;15489334;16424001;16740781;17178857;17207965;17520678;17603013;17905836;18959821;19322201;19684084;20878554;21139048;22658654;23377761;23880650;24937306;8889548 56892 Q9NR00 ABBA01015904;AC022733;AF268037;AF268038;AI861861;AI935347;AK026240;AMYH02017850;BC020623;BC021672;BM976768;BX434108;CH471080;NM_020130 AAF78961;AAH20623;AAH21672;ACE87044;ACE87727;ADQ33213;EAW63268;NP_064515;Q9NR00 Hs.591849;Hs.745031 1698842 RH102985 MGC22806;TC-1;TC1;hTC-1 OTTHUMP00000225689;human thyroid cancer 1;thyroid cancer protein 1;thyroid cancer-1;uncharacterized protein C8orf4 APPROVED protein-coding ENSG00000176907 HGNC:1357 09650 607702 REVIEWED 1606135 C8orf37 chromosome 8 open reading frame 37 This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012] 8 8 8 q22.1 92443250 92466452 - 96257141 96281707 - 95244913 95269479 - 8699517;7240710;8554872 12477932;14702039;16344560;20301590;20379614;22177090;23251661;23788369;24250222;25113443 157657 F4Y588;Q96NL8 AA897574;ABBA01037480;AC024995;AK055162;AMYH02018446;AP003466;BC036855;BC150301;CH471060;DA473498;DB205618;GQ240139;NG_032804;NM_177965;XM_005250799 AAI72331;ADE62519;BAB70866;EAW91744;EAW91745;NP_808880;Q96NL8;XP_005250856 Hs.548157 1675804;1777927;5020948 G35510;RH99292;SHGC-56949 CORD16;FLJ30600;RP64 OTTHUMP00000227184;hypothetical protein LOC157657;smalltalk;uncharacterized protein C8orf37 APPROVED protein-coding ENSG00000156172 HGNC:27232 14104 614477;614500 REVIEWED 1606262 C8orf44 chromosome 8 open reading frame 44 FOUND IN nucleus; INTERACTS WITH hydrogen peroxide; trichostatin A; valproic acid 8 8 8 q13.1 63581240 63586021 + 67579787 67597797 + 66667552 66681149 + 6480464 12477932;14702039;15489334;16344560 56260 E5RJQ3;Q96CB5 AA551208;ABBA01041876;AC090154;AK002129;AMYH02018109;AX878228;BC014448;CH471068;DA341401;NM_019607 AAH14448;BAA92096;CAE90063;EAW86917;EAW86918;NP_062553;Q96CB5 Hs.661238 FLJ11267 OTTHUMP00000226970;OTTHUMP00000226971;putative uncharacterized protein C8orf44 protein-coding ENSG00000213865 HGNC:25646 07744 VALIDATED 8553073 C8orf37-AS1 C8orf37 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 8 8 96281031 96822371 + 95268836 95810143 + 8554872 23251661;23350875;23568457 100616530 ABBA01037480;ABBA01037481;ABBA01037482;ABBA01037483;ABBA01037484;ABBA01037485;ABBA01037486;ABBA01037487;AC024995;AC083836;AC108924;AC116154;AMYH02018446;AMYH02018447;AMYH02018448;AMYH02018449;AMYH02018450;AMYH02018451;GU295153;GU295154;GU295155;GU295156;GU295157;GU295158;GU295159;GU295160;GU295161;GU295162;GU295163;GU295164;HG501493;HG501494;KF458800;KF458802;KF458804;KF458806;KF459912;KF459915;KF459916;KF459917;KF459919;KF459920;KF459921;NR_038201;NR_038202;NR_038203;NR_038204;NR_038205;NR_038206;NR_038207;NR_038208;NR_038209 ADT65081;ADT65082;ADT65083;ADT65084;ADT65085;ADT65086;ADT65087;ADT65088;ADT65089;ADT65090;ADT65091;ADT65092 Hs.554328;Hs.738554;Hs.740242 ncrna ENSG00000253773 HGNC:50444 VALIDATED 1604869 C8orf49 chromosome 8 open reading frame 49 FOUND IN integral component of membrane (inferred) 8 8 8 p23.1 10748104 10749646 + 11618765 11620732 + 11761256 11763223 + 12477932;14702039;22500510 606553 E9PQH1;Q96NF6 ABBA01026877;AC069185;AK055534;AMYH02017441;BC132945;BC136882;CH471157;NR_103552 AAI32946;AAI36883;EAW65622;Q96NF6 Hs.545529 1681275;1754435;2169795;2172970;5022322 D11S2560;RH11694;RH91374;SHGC-132501;SHGC-33472 FLJ30972;G4DM ncrna ENSG00000255394 HGNC:32200 PREDICTED 2304146 C8orf48 chromosome 8 open reading frame 48 INTERACTS WITH atrazine; formaldehyde; valproic acid 8 8 8 p22 12389653 12391098 + 13424352 13425797 + 13566843 13568288 + 6480464 12477932;16189514;19060904;23455924;24250222;8889548 157773 Q96LL4 ABBA01021622;AC022832;AF394908;AK058131;AK058156;AMYH02017482;BC031245;CB306127;CH471080;NM_001007090 AAH31245;AAQ02889;BAB71677;BAB71692;EAW63850;NP_001007091;Q96LL4 Hs.104941 1688975 RH92548 FLJ25402 OTTHUMP00000229934;hypothetical protein LOC157773;uncharacterized protein C8orf48 protein-coding ENSG00000164743 HGNC:26345 16922 VALIDATED 1601950 C8orf57 chromosome 8 open reading frame 57 q21.3 11230166 84257 Q9BQG3 AL136588 CAB66523;Q9BQG3 Hs.492187 DKFZp761D112 protein-coding HGNC:25411 1349776 C8orf5 chromosome 8 open reading frame 5 203080 AJ305312;NM_182754 HGNC:15539 1601708 C8orf46 chromosome 8 open reading frame 46 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; coumestrol 8 8 8 q13.1 63398468 63423736 + 67405491 67430759 + 66493256 66518524 + 6480464;8554872 12477932;14702039;15489334 254778 E5RH60;E5RJS6;E5RKA6;Q8TAG6;R4GNJ7 ABBA01041871;AC009879;AK055047;AK096336;AK294261;AK308800;AK315486;AMYH02018106;BC028400;CH471068;DC344091;H17010;NM_152765 AAH28400;ACT64493;ACT64494;BAG37870;BAG57555;EAW86908;EAW86909;EAW86910;NP_689978;Q8TAG6 Hs.268869 1661554;1673195;1676652;1777739;2120644;2147864 1978;A002V38;D8S1398E;D8S1578;HSC15E112;RH91788 MGC33510 OTTHUMP00000211258;OTTHUMP00000226956;OTTHUMP00000226957;OTTHUMP00000228340;hypothetical protein LOC254778;uncharacterized protein C8orf46 protein-coding ENSG00000169085 HGNC:28498 14565 VALIDATED 7243524 C8orf44-SGK3 C8orf44-SGK3 readthrough This locus represents naturally occurring read-through transcription between the neighboring putative uncharacterized protein C8orf44 (GeneID 56260) and serine/threonine-protein kinase Sgk3 (GeneID 23678) genes on chromosome 8. The read-through transcript produces a protein that shares sequence identity with the downstream gene product. [provided by RefSeq, Feb 2011] 8 8 67579787 67774257 + 66667552 66862022 + 6480464;8554872 10548550;10585774;12397388;14702039;15489334;16460280;16790420;16888620;16959974;17344846;20967262 100533105 Q96BR1 ABBA01041876;ABBA01041877;ABBA01041878;ABBA01041879;ABBA01041880;ABBA01041881;ABBA01041882;AC011031;AC090154;AMYH02018109;AMYH02018110;AMYH02018111;AMYH02018112;AMYH02018113;AMYH02018114;AMYH02018115;AMYH02018116;NM_001204173 NP_001191102;Q96BR1 Hs.613417 1855803;2118769;5014740;5015619;5015961;5022322;5037552 D11S2560;D11S3114;D15S1477;D17S610;D8S2279;SHGC-36195;STS-H98714 cytokine-independent survival kinase;serine/threonine-protein kinase Sgk3;serum/glucocorticoid-regulated kinase 3 protein-coding HGNC:48354 VALIDATED 1606509 C8orf33 chromosome 8 open reading frame 33 INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; methotrexate 8 8 8 q24.3 142454766 142458407 + 146277823 146281416 + 145052438 145056030 + 6480464 12477932;16169070;16344560;19060904;21139048;21145461;21832049;21900206;21907836;24816145 65265 Q9H7E9 ABBA01005190;AC139103;AF086170;AK024642;AMYH02019021;BC010001;BC015181;BX648996;CH471162;CR457330;DA467518;NM_023080 AAH10001;AAH15181;BAB14943;CAG33611;EAW82022;EAW82023;NP_075568;Q9H7E9 Hs.169615 1677568 RH65235 FLJ20989 OTTHUMP00000229101;UPF0488 protein C8orf33;hypothetical protein LOC65265 protein-coding ENSG00000182307 HGNC:26104 07951 VALIDATED 1602379 C8orf61 chromosome 8 open reading frame 61 p23.3 14702039 619435 Q8N8I7 AC100810;AK096736;NM_001034061 BAC04854;NP_001029233;Q8N8I7 Hs.591392 FLJ39417 protein-coding HGNC:32277 2300141 C8orf63 chromosome 8 open reading frame 63 q24.3 619339 BQ919341 protein-coding HGNC:21804 1605303 C8orf34 chromosome 8 open reading frame 34 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH calcitriol; trichostatin A; valproic acid 8 8 8 q13 65343493 65724632 + 69242957 69731258 + 68330722 68819023 + 6480464;8554872 12477932;14702039;21732829;22664479;23251661;23314748;8889548 116328 E5RJD9;Q49A92 AB056652;ABBA01041912;ABBA01041913;ABBA01041914;AC011884;AC067871;AC083967;AC090096;AK094191;AK094650;AK291436;AL834454;AMYH02018146;AMYH02018147;AMYH02018148;AMYH02018149;AMYH02018150;BC041961;BC143425;BM684412;CH471068;KF458774;KF458778;NM_001195639;NM_052958;XM_005251149 AAH41961;BAB64433;BAC04304;BAC04395;BAF84125;CAD39114;EAW86945;EAW86946;EAW86947;EAW86948;EAW86949;NP_001182568;NP_443190;Q49A92;XP_005251206 Hs.491941 1338544;1647742;1704528;1705114;1711290;1720863;1734080;1749163;1750477;1752431;1767627;1786546;1850408;2114198;2139426;2148262;2152111;5021872;5037552 D7S2658;D8S1380E;D8S1495;D8S1582;D8S1792;D8S2279;D8S23;G32204;G59259;RH18165;SHGC-106363;SHGC-110852;SHGC-111385;SHGC-111787;SHGC-79977;SHGC-83060;SHGC-84172;WI-20666;sY3084 DKFZp547E186;FLJ36872;FLJ37331;VEST-1;VEST1 A830018L16Rik;OTTHUMP00000226698;OTTHUMP00000226700;OTTHUMP00000226701;hypothetical protein LOC116328;uncharacterized protein C8orf34;vestibule 1;vestibule-1 protein protein-coding ENSG00000165084 HGNC:30905 18281 VALIDATED 1604140 C8orf59 chromosome 8 open reading frame 59 INTERACTS WITH cadmium atom; quercetin; valproic acid 8 8 8 q21.2 82131333 82137694 - 86126288 86132643 - 85214053 85220414 - 6480464 11597177;12477932;15146197;16341674;16344560;21139048;21963094;23000965;25015289 401466 E5RGR5;Q8N0T1 ABBA01004010;AC011773;AK000414;AMYH02018350;BC032347;BC055092;BC062221;BC146983;BC146988;BC157825;BC171873;BG926519;BM785759;CB119146;CD103186;CH471068;CN280666;CN481353;DB094478;ES312850;KF573693;NM_001099670;NM_001099671;NM_001099672;NM_001099673;NM_001293320;NR_120681 AAH32347;AAI46984;AAI46989;AAI57826;EAW87124;EAW87125;EAW87126;EAW87127;NP_001093140;NP_001093141;NP_001093142;NP_001093143;NP_001280249;Q8N0T1 Hs.443072 1776082;1797490;2116893;2125751;2180191 E2F5_2517;RH16329;RH46301;SGC35072;SHGC-35383 OTTHUMP00000227510;OTTHUMP00000227512;OTTHUMP00000227967;OTTHUMP00000227969;OTTHUMP00000227970;hypothetical protein LOC401466;uncharacterized protein C8orf59 protein-coding ENSG00000176731 HGNC:32235 VALIDATED 1353747 C8orf6 chromosome 8 open reading frame 6 203081 NM_145656 HGNC:15542 2300142 C8orf67 chromosome 8 open reading frame 67 p23.3 10737800 619338 BF742662 Hs.678836 protein-coding HGNC:21519 1606363 C8orf82 chromosome 8 open reading frame 82 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; formaldehyde; benzo[a]pyrene (ortholog) 8 8 8 q24 141927283 141930130 - 145751599 145754485 - 144526219 144529074 - 6480464;8554872 12477932 414919 H0YEK9;H0YF29;J3KNI2;Q6P1X6 ABBA01005200;AC084125;AMYH02019009;AMYH02019010;BC064373;BC064829;BC073936;CH471162;NM_001001795 AAH64373;AAH64829;AAH73936;EAW82063;EAW82064;NP_001001795;Q6P1X6 Hs.105685 1648009 RH11522 MGC70857 OTTHUMP00000228796;OTTHUMP00000228798;UPF0598 protein C8orf82;hypothetical protein LOC414919 protein-coding HGNC:33826 17567 PREDICTED 5688531 C8orf87 chromosome 8 open reading frame 87 8 8 8 q22.1 90333068 90365817 - 94146324 94179079 - 93134095 93166850 - 12477932;20889312 389676 E5RJ46;H0YBK8 ABBA01037432;ABBA01037433;AC016885;AC022825;AMYH02018413;BC089453;LN608239;NM_001242668 E5RJ46;NP_001229597 Hs.386711 1340639;1711930 D8S1818;G49576 uncharacterized protein C8orf87;uncharacterized protein LOC389676 protein-coding HGNC:42974 VALIDATED 1345698 C8orf8 chromosome 8 open reading frame 8 p23-p22 11896452 83647 Q96KT2 AJ301561 CAC82737;Q96KT2 Hs.404138 protein-coding HGNC:15544 1602035 C8orf86 chromosome 8 open reading frame 86 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 8 8 8 p11.22 37321247 37339347 - 38368352 38386180 - 38510834 38528662 - 8554872 12477932 389649 Q6ZUL3 ABBA01023530;ABBA01023531;AC069120;AC087623;AK125570;AMYH02017832;AMYH02017833;AMYH02017834;BC137511;BC137512;BC139744;NM_207412 AAI37512;AAI37513;AAI39745;BAC86207;NP_997295;Q6ZUL3 Hs.546586 FLJ43582 OTTHUMP00000225520;hypothetical protein LOC389649;uncharacterized protein C8orf86 protein-coding ENSG00000196166 HGNC:33774 13474 PREDICTED 7409763 C8orf88 chromosome 8 open reading frame 88 8 8 8 q21.3 88165437 88192235 - 91970706 91997485 - 90958478 90985257 - 16344560;20379614 100127983 P0DMB2 ABBA01037412;ABBA01037413;AC087439;AC103770;AMYH02018396;BI562585;BI829215;CH471060;DA838443;NM_001190972 EAW91671;NP_001177901;P0DMB2 Hs.733266 uncharacterized protein C8orf88;uncharacterized protein LOC100127983 protein-coding ENSG00000253250 HGNC:44672 VALIDATED 1343550 C9orf101 chromosome 9 open reading frame 101 445578 HGNC:31361 9586312 C8orf89 chromosome 8 open reading frame 89 8 8 8 q21.11 70151089 70169273 - 74153623 74174150 - 73241388 73261915 - 12477932 100130301 ABBA01041962;AC008598;AC100823;AC111149;AMYH02018209;BC150551;BC150552;DT932667;NM_001243237;XM_005251126 NP_001230166;XP_005251183 Hs.202296 uncharacterized protein LOC100130301 protein-coding ENSG00000274443 HGNC:51258 VALIDATED 1602854 C8orf76 chromosome 8 open reading frame 76 INTERACTS WITH benzene; benzo[a]pyrene; cyclosporin A 8 8 8 q24.13 120421270 120442656 - 124232196 124253656 - 123219956 123241398 - 6480464 12477932;14702039;15489334;19416867;20379614;21906983;8125298 84933 Q96K31 ABBA01037869;ABBA01037870;AC068228;AK027731;AK222660;AMYH02018703;BC067796;CH471060;DR156993;GD144749;NM_032847 AAH67796;ACT64409;ACT64410;BAB55327;BAD96380;EAW92026;NP_116236;Q96K31 Hs.707401 1679143;1689145;1847469;2123583;2167102 RH48703;RH80528;RH93745;STS-AA032013;STS-N32331 FLJ14825;MGC9784 OTTHUMP00000228384;hypothetical protein LOC84933;uncharacterized protein C8orf76 protein-coding ENSG00000189376 HGNC:25924 08605 VALIDATED 1320687 C9 complement component 9 This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009] 5 5 5 p14-p12 39170963 39251580 - 39284377 39364655 - 39284275 39364553 - 1580863;6480464;6907045;7240710;8699517;8554872 10551839;11027207;11359403;11881818;12463754;12477932;12596049;1377690;14760718;15489334;16263699;16335952;16618117;16712791;1672663;16844690;17482181;17644516;18029348;18842294;19056867;19162005;19344414;19423540;19739077;19864026;19913121;20139276;20153530;20237496;20383146;20406964;20438785;20628086;21057849;21380615;21507937;21840429;22190594;22528500;23487461;23750785;23943762;2395434;2426252;2744767;3219351;3624872;4018030;4063341;6095282;7523406;8345200;8471847;8603752;8630395;9144525;9570574;9634479;9703418 735 P02748;Q9UGI4 ABBA01024210;AC008846;AC025471;AJ251818;AK308045;AMYH02011197;BC020721;CB135741;CB157001;CH471119;J02833;K02766;NG_009894;NM_001737;X02176;Y08545 AAA51889;AAA51890;AAH20721;ABM82336;CAA26117;CAA69849;CAB66087;EAW55986;EAW55987;EAW55988;NP_001728;P02748 Hs.654443 1653135;1705146;1768376;1776755;2140543;2176333 D5S2371;RH11647;SGC33368;SHGC-80007;STS-K02766;WI-12573 ARMD15;C9D OTTHUMP00000119994;complement component C9 APPROVED protein-coding ENSG00000113600 HGNC:1358 00408 120940;613825;615591 REVIEWED 1604880 C8orf58 chromosome 8 open reading frame 58 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 8 8 8 p21 21418974 21423515 + 22457114 22461663 + 22599601 22604150 + 6480464;8554872 12477932;14702039;16751776;17207965;18029348 541565 E5RJ64;H0YAZ5;Q8NAV2 ABBA01005525;AC037459;AI380311;AK092034;AK295405;AMYH02017594;BC012750;BI910955;DC328974;DQ593874;NM_001013842;NM_001198827;NM_173686 AAH12750;ADQ32183;BAC03795;BAG58356;NP_001013864;NP_001185756;NP_775957;Q8NAV2 Hs.743508 1688110;1698432;1699706 RH102761;RH103458;RH79699 FLJ34715 OTTHUMP00000205210;OTTHUMP00000205211;hypothetical protein LOC541565;uncharacterized protein C8orf58 protein-coding ENSG00000241852 HGNC:32233 18675 VALIDATED 1606427 C8orf74 chromosome 8 open reading frame 74 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol 8 8 8 p23.1 9658009 9685862 + 10530147 10558103 + 10672637 10700593 + 6480464;8554872 12477932;15489334;23455924 203076 E5RJ53;H0YBH0;Q6P047 ABBA01026889;AC105001;AK131443;AMYH02017429;BC038534;BC065837;BC132852;BC132854;CH471157;HC006850;NM_001040032 AAH65837;AAI32853;AAI32855;ADR82897;CBH19230;EAW65593;NP_001035121;Q6P047 Hs.371776 1338216;1697090;7184055 D8S520;RH102027 OTTHUMP00000224980;hypothetical protein LOC203076;uncharacterized protein C8orf74 protein-coding ENSG00000171060 HGNC:32296 VALIDATED 1348246 C9orf118 chromosome 9 open reading frame 118 q22.32 15164053 414312 A6NHY6;B1AM58 AL161728 A6NHY6;CAH72691 bA342C23.1 Putative uncharacterized protein C9orf118 protein-coding HGNC:25943 1343592 C9orf114 chromosome 9 open reading frame 114 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q34.11 102235130 102242872 - 131581930 131592299 - 128819651 128830016 - 737633;6480464 12477932 11042152;11790298;15164053;15489334;17207965;20813266;21900206;21906983;21963094;22990118;24457600;24816145 51490 Q5T280;R4GNG4 ABBA01043904;AF161459;AK303563;AL110193;AL441992;AMYH02021728;BC010579;BC021273;BC033677;BC039590;BC046133;BC056890;BC063644;BM997763;CH471090;NM_016390;XM_005252045;XM_005252046 AAF29074;AAH10579;AAH21273;AAH33677;AAH39590;AAH46133;AAH63644;ADQ32533;BAG64586;EAW87838;EAW87839;NP_057474;Q5T280;XP_005252102;XP_005252103 Hs.224137 2108057;2125011 ENDOG_7788;RH78082 CENP-32;DKFZp566D143;HSPC109;MGC29492;RP11-545E17.7 OTTHUMP00000022300;centromere protein 32;hypothetical protein LOC51490;uncharacterized protein C9orf114 protein-coding ENSG00000198917 HGNC:26933 12935 VALIDATED 1353369 C9orf116 chromosome 9 open reading frame 116 INTERACTS WITH 17alpha-ethynylestradiol; cadmium dichloride; copper(2+) sulfate 9 9 9 q34.3 108904156 108908891 - 138387026 138391761 - 135495180 135499915 - 737633;6480464 12477932 14702039;15164053;15489334 138162 H0Y549;Q5BN46 ABBA01030037;AI367252;AI873313;AK024007;AL161452;AMYH02021871;AY927868;BC021261;CH471090;DR003074;NM_001048265;NM_144654 AAH21261;AAX22217;ABM83710;ABM87030;EAW88154;EAW88155;NP_001041730;NP_653255;Q5BN46 Hs.414028 1696930 RH101935 FLJ13945;MGC29761;PIERCE1;RP11-426A6.4;RbEST47;cells OTTHUMP00000022533;OTTHUMP00000022534;OTTHUMP00000022536;UPF0691 protein C9orf116;hypothetical protein LOC138162;p53-induced expression 1 in Rb−/−p53-induced expression 1 in Rb-/- cells;p53-induced expression 1 in Rbâ¿¿/â¿¿;p53-induced expression in RB-null cells protein 1;pierce 1 protein-coding ENSG00000160345 HGNC:28435 12937 614502 VALIDATED 1349151 C9orf120 chromosome 9 open reading frame 120 414322 HGNC:31413 1349578 C9orf106 chromosome 9 open reading frame 106 INTERACTS WITH arsenite(3-) 9 9 9 q34.11 102734238 102735825 + 132083295 132084882 + 129321016 129322603 + 6480464 12477932;14702039;21139048 414318 Q8NAJ2 ABBA01043923;AK092588;AL161785;AMYH02021735;BC132699;BC132701;CH471090;NM_001012715 AAI32700;AAI32702;BAC03921;EAW87887;NP_001012733;Q8NAJ2 Hs.449434 1786974;1823784;1827270;1828498;1829502;1831194;1832440;1833834;1835662;1929304;1929306;1929308;1929310;1929312;1929314;1929316;1929318;1929320;1929322;1929324;1929326;1929328;1929330;1929332;1929334;1929336;1929338;1929340;1929342;1929344;1929346;1929348;1929350;1929352;2208570;2208572;2208574;2208576;2208578;5037552 D8S2279;ECD12984;ECD14750;ECD15376;ECD15882;ECD16733;ECD17359;ECD18063;ECD18988;REN35481;REN35482;REN35483;REN35484;REN35485;REN35486;REN35487;REN35488;REN35489;REN35490;REN35491;REN35492;REN35493;REN35494;REN35495;REN35496;REN35497;REN35498;REN35499;REN35500;REN35501;REN35502;REN35503;REN35504;REN35505;SHGC-145676;stSG628365;stSG628366;stSG628367;stSG628368;stSG628369 bA65J3.5 putative uncharacterized protein C9orf106 protein-coding HGNC:31370 10207 VALIDATED 1343575 C9orf117 chromosome 9 open reading frame 117 9 9 9 q34.11 101120163 101127195 + 130469263 130476303 + 127706984 127714024 + 12477932;14702039;21145461 286207 A2RUS6;Q5JU67 ABBA01043840;AK094948;AK126437;AL162426;AL833241;AMYH02021693;AMYH02021694;BC125172;BC133027;BC141809;CH471090;NM_001012502;XM_006717064 AAI33028;AAI41810;EAW87682;EAW87683;EAW87684;NP_001012520;Q5JU67;XP_006717127 Hs.652519 1677476;2179981 RH92521;SGC30286 RP11-56D16.5 OTTHUMP00000022194;hypothetical protein LOC286207;uncharacterized protein C9orf117 protein-coding ENSG00000160401 HGNC:27843 16673 PREDICTED 1626519 C9orf147 chromosome 9 open reading frame 147 q32 100113405 H0Y7W3;U3KQ76 AK131020 Hs.662552 bA32M23.3 protein-coding HGNC:31438 1344533 C9orf148 chromosome 9 open reading frame 148 q33.2 12477932 401550 BC039180 Hs.644347 protein-coding HGNC:24214 7246739 C9orf135-AS1 C9orf135 antisense RNA 1 (head to head) 9 9 9 q21.11 43024687 43026002 - 72434321 72435655 - 69819405 69820739 - 12477932 494558 ABBA01033816;AL162412;AMYH02020945;BC039385;BG717523;BI830190;NR_038833 Hs.130722 1729588 D9S110 ncrna HGNC:48713 VALIDATED 1604527 C9orf131 chromosome 9 open reading frame 131 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 9 9 9 p13.3 34973075 34977961 + 35041102 35045988 + 35041095 35045991 + 6480464;8554872 12477932;14702039;16344560;18187620 138724 F5H224;F5H4E3;F8W7H5;Q5VYM1 ABBA01064998;AK090398;AK097595;AK302123;AL133575;AL353795;AMYH02019455;BC045643;DB068600;DB072581;DB072610;DB077276;DB081756;DB091135;DB093341;DB096349;DB097641;NM_001040410;NM_001040411;NM_001040412;NM_001287391;NM_203299 AAH45643;BAC03379;BAG63501;CAB63722;NP_001035500;NP_001035501;NP_001035502;NP_001274320;NP_976044;Q5VYM1 Hs.148250;Hs.742567 2128862;5014267;5015861;5022200;5022576;5022651;5037552;7185938 D10S16;D11S2921;D1S1361;D8S2279;G29284;L18426;REN93612 FLJ00273;MGC41945 OTTHUMP00000021323;OTTHUMP00000239652;OTTHUMP00000239653;OTTHUMP00000239674;hypothetical protein LOC138724;uncharacterized protein C9orf131 protein-coding ENSG00000174038 HGNC:31418 14616 VALIDATED 1350389 C9orf129 chromosome 9 open reading frame 129 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; all-trans-retinoic acid; (S)-nicotine (ortholog) 9 9 9 q22.31 66522701 66550923 - 96080481 96108696 - 93318199 93346414 - 6480464;8554872 20379614 445577 Q5T035 ABBA01018607;AL583839;AMYH02021236;NM_001098808;XM_006717117 NP_001092278;Q5T035;XP_006717180 Hs.575636 1768531;2116753;2169832 IB543;RH66306;WI-15809 bA165J3.3 OTTHUMP00000021675;putative uncharacterized protein C9orf129 protein-coding ENSG00000204352 HGNC:31116 PREDICTED 1605872 C9orf135 chromosome 9 open reading frame 135 FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; trichostatin A 9 9 9 q21.12 43026105 43111542 + 72435731 72521148 + 69820815 69906232 + 6480464 12477932;15164053;16335952;20379614;20818722 138255 A7E2U4;E9PIA3;H0YD79;H0YDM9;Q5VTT2 AA416734;ABBA01033816;ABBA01033817;ABBA01033818;ABBA01033819;AL162412;AL591215;AL603625;AMYH02020945;AMYH02020946;AMYH02020947;BC136709;BC144373;BC144374;BC144375;BC150564;CD684431;CH471089;NM_001010940;XM_005251705 AAI36710;AAI50565;EAW62492;NP_001010940;Q5VTT2;XP_005251762 Hs.444459 1704720;1729588 D9S110;SHGC-79021 OTTHUMP00000021439;OTTHUMP00000232342;OTTHUMP00000232346;hypothetical protein LOC138255;uncharacterized protein C9orf135 protein-coding ENSG00000204711 HGNC:31422 17298 VALIDATED 1318524 C9orf151 chromosome 9 open reading frame 151 q34.3 401560 AA916420;BI827090 Hs.528581 bA413M3.2 protein-coding HGNC:31453 1603806 C9orf139 chromosome 9 open reading frame 139 INTERACTS WITH diazinon 9 9 9 q34.3 1026 2262 - 139921916 139931234 + 137027464 137036782 + 12477932;14702039 401563 Q6ZV77 ABBA01022736;ABBA01022737;ABBA01022738;AK093587;AK124899;AL807752;AMYH02021918;AMYH02021919;AMYH02021920;BC132809;BC136839;CH471090;NM_207511 AAI32810;AAI36840;ADR83488;BAC04202;BAC85986;EAW88334;NP_997394;Q6ZV77 Hs.522509 1792768;1795874;2163150 FUT7_665;PMC16366P1;STS-X78031 FLJ36268;FLJ42909 OTTHUMP00000022650;hypothetical protein LOC401563;uncharacterized protein C9orf139 protein-coding ENSG00000180539 HGNC:31426 16942 PREDICTED 1352712 C9orf155 chromosome 9 open reading frame 155 497260 AL161447;NM_001099268 CAH73151;NP_001092738 FLJ23608;bA379P1.3 protein-coding HGNC:29844 1606404 C9orf142 chromosome 9 open reading frame 142 FOUND IN extracellular vesicular exosome; INTERACTS WITH coumestrol; methyl methanesulfonate; cadmium dichloride (ortholog) 9 9 9 q34.3 110399180 110400738 + 139886870 139888428 + 136992418 136993976 + 6480464 12477932;17207965;21139048;21832049 286257 Q9BUH6 ABBA01022734;AL807752;AMYH02021915;BC002613;BC038191;CH471090;NM_183241 AAH02613;AAH38191;ADQ32091;EAW88324;EAW88325;EAW88326;EAW88327;EAW88328;NP_899064;Q9BUH6 Hs.409582 1669143;5123576 STS-T23618;WI-19910 OTTHUMP00000022672;hypothetical protein LOC286257;uncharacterized protein C9orf142 protein-coding ENSG00000148362 HGNC:27849 14163 PREDICTED 1604152 C9orf153 chromosome 9 open reading frame 153 9 9 9 q21.33 59412336 59444629 - 88835180 88874572 - 86220265 86259657 - 12477932;15164053;15489334 389766 Q5TBE3 ABBA01016308;AL137849;AMYH02021153;BC108665;BG772848;BI827110;CH471089;HC006858;NM_001276366;NM_001276367;NM_001276368 AAI08666;CBH19234;EAW62710;EAW62711;NP_001263295;NP_001263296;NP_001263297;Q5TBE3 Hs.632073 MGC131702;bA507D14.1 OTTHUMP00000021589;hypothetical protein LOC389766;uncharacterized protein C9orf153 protein-coding ENSG00000187753 HGNC:31456 16677 VALIDATED 1602164 C9orf164 chromosome 9 open reading frame 164 q22.2 14702039;15164053 349236 AJ420442;AK090804;AK091601;AK097056;AK128342;AL929575;BC137515;BC137518;NM_182635 AAI37516;AAI37519;BAC04938;CAI95794;NP_872441;Q8N8B0 Hs.714762 FLJ39737 protein-coding HGNC:28023 14184 1604151 C9orf171 chromosome 9 open reading frame 171 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH paracetamol; cisplatin (ortholog); dibutyl phthalate (ortholog) 9 9 9 q34.13 105827436 105990419 + 135285430 135448734 + 132410196 132573319 + 6480464;8554872 12477932;19913121;20379614;20628086;23251661 389799 A2A393;Q6ZQR2 ABBA01032484;ABBA01032485;ABBA01032486;ABBA01032487;AK128819;AL353701;AL354735;AMYH02021806;AMYH02021807;AMYH02021808;AMYH02021809;AMYH02021810;AMYH02021811;AMYH02021812;BC118593;BC124555;CH471090;HY017665;NM_001282957;NM_207417 AAI18594;AAI24556;BAC87621;EAW88003;EAW88004;NP_001269886;NP_997300;Q6ZQR2 Hs.201709 1337349;1738303;1740535;5020611 D9S1275;D9S149;D9S1847;UniSTS:224561 FLJ46082;MGC148067;RP11-738I14.8 OTTHUMP00000162463;OTTHUMP00000213246;hypothetical protein LOC389799;uncharacterized protein C9orf171 protein-coding ENSG00000188523 HGNC:33776 13522 VALIDATED 1602292 C9orf163 chromosome 9 open reading frame 163 9 9 9 q34.3 109892404 109894976 + 139377947 139380519 + 136483495 136486067 + 12477932;14702039;17353931;24250222 158055 Q8N9P6;Q96NJ1 ABBA01022709;AK055336;AK094098;AL592301;AMYH02021902;BC036221;BC117152;BC117154;CH471090;NM_152571 AAI17153;AAI17155;ADR82842;BAB70904;BAC04285;EAW88240;NP_689784;Q8N9P6 Hs.212613 5493399 UniSTS:485993 FLJ36779;RP11-413M3.11 OTTHUMP00000162518;hypothetical protein LOC158055;uncharacterized protein C9orf163 protein-coding ENSG00000196366 HGNC:26718 08211 VALIDATED 1313441 C9orf156 chromosome 9 open reading frame 156 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); viral process (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 9 9 9 q22.33 71181022 71199104 - 100662380 100684852 - 97900099 97922570 - 6480464 11042152;12477932;14702039;18654987;19779022;20350937;20583170;21963094;22493691;24250222;9153233 51531 Q5T111;Q5T112;Q5T114;Q9BU70 ABBA01042926;AF151053;AK000213;AK023069;AK302701;AK309270;AL499604;AMYH02021313;AX880095;AY189280;BC002863;CH471105;NM_016481;X86033;XM_005252047;XM_005252048;XM_005252049;XM_005252050 AAF36139;AAH02863;AAO86724;ABM83909;ABM87230;BAA91013;BAH13783;CAA60025;CAE90800;EAW58858;EAW58859;EAW58860;NP_057565;Q9BU70;XP_005252104;XP_005252105;XP_005252106;XP_005252107 Hs.9196 2148084 D9S1711 HSPC219;NAP1;RP11-23B15.3 Nef (lentivirus myristoylated factor) associated protein 1;Nef associated protein 1;OTTHUMP00000022729;nef-associated protein 1;thioesterase NAP1 protein-coding ENSG00000136932 HGNC:30967 12945 VALIDATED 1603810 C9orf170 chromosome 9 open reading frame 170 ASSOCIATED WITH Melanoma (inferred) 9 9 9 q21.33 60335217 60346294 + 89763559 89774641 + 87148644 87159726 + 8554872 12477932;14702039;15489334 401535 A2RU37 ABBA01016317;ABBA01016318;AK127445;AL158205;AMYH02021159;BC132741;BC136791;NM_001001709 A2RU37;AAI32742;AAI36792;ADR82813;NP_001001709 Hs.657740 1770107 WI-17567 FLJ45537 OTTHUMP00000215881;hypothetical protein LOC401535;uncharacterized protein C9orf170 protein-coding ENSG00000204446 HGNC:33817 16988 VALIDATED 1342470 C9orf152 chromosome 9 open reading frame 152 INTERACTS WITH coumestrol; formaldehyde; hydralazine 9 9 9 q31.3 83463470 83472042 - 112961841 112970413 - 110199561 110208133 - 6480464 12477932;15164053;15489334;15851553 401546 A8K2L3;Q5JTZ5 ABBA01042750;AK290278;AL353598;AMYH02021448;BC110807;BX648492;BX648620;CD722791;CH471105;NM_001012993 AAI10808;ABZ92215;ACE86941;ACE87629;BAF82967;EAW59058;NP_001013011;Q5JTZ5 Hs.125608 1697256 RH102122 MGC131682;bA470J20.2 OTTHUMP00000021886;hypothetical protein LOC401546;uncharacterized protein C9orf152 protein-coding ENSG00000188959 HGNC:31455 10249 VALIDATED 1347051 C9orf33 chromosome 9 open reading frame 33 q22.1 90477 O75562;Q5JUI2 AF072164;AL160054 AAC24864;CAI41367;O75562;Q5JUI2 Hs.667154 HFSE-1 protein-coding HGNC:23374 1604889 C9orf173 chromosome 9 open reading frame 173 9 9 9 q34.3 110661314 110663520 + 140145713 140147935 + 137250862 137253686 + 12477932;14702039 441476 B7ZM74;Q8N7X2 ABBA01022752;AK097565;AMYH02021928;BC033939;BC050094;BC132726;BC144308;BC144310;BC144311;BC144314;BX255925;CH471090;DB453255;NM_001004353;NM_001256699;NM_001256700;NM_001256701;NR_046339;NR_046340;XM_006717113;XM_006717114;XM_006717115 AAH33939;AAI32727;AAI44309;AAI44312;AAI44315;ADR82979;BAC05104;EAW88374;EAW88375;EAW88376;NP_001004353;NP_001243628;NP_001243629;NP_001243630;Q8N7X2;XP_006717176;XP_006717177;XP_006717178 Hs.372640 1681829;1687077 RH69719;RH94267 FLJ40246 hypothetical protein LOC441476;uncharacterized protein C9orf173 APPROVED protein-coding ENSG00000197768 HGNC:37285 17408 VALIDATED 1342591 C9orf16 chromosome 9 open reading frame 16 INTERACTS WITH acetylsalicylic acid; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 9 9 9 q34.1 101573422 101577094 + 130922539 130926207 + 128160260 128163928 + 6480464 10369878;12477932;14702039;15146197;15489334;16189514;16964243;18330356;24722188 79095 Q9BUW7;Q9Y3F6 ABBA01043870;AK022885;AK315753;AL590708;AMYH02021710;BC001857;BC008887;CH471090;CN360246;DB493059;NM_024112;Y17449;Y17450 AAH01857;AAH08887;BAG38107;CAB44344;CAB44366;EAW87751;NP_077017;Q9BUW7 Hs.522412 1664190;1730199;5022200 D9S1673E;L18426;RH48361 EST00098;FLJ12823;MGC4639 OTTHUMP00000022233;UPF0184 protein C9orf16;hypothetical protein LOC79095 protein-coding ENSG00000171159 HGNC:17823 12946 VALIDATED 3302853 C9orf172 chromosome 9 open reading frame 172 9 9 9 q34.3 110252657 110255587 + 139735733 139741884 + 136844415 136847345 + 389813 C9J069 ABBA01022724;ABBA01022725;AL355987;AMYH02021912;AMYH02021913;NM_001080482 C9J069;NP_001073951 Hs.495485 uncharacterized protein C9orf172 protein-coding HGNC:37284 INFERRED 8694862 C9orf173-AS1 C9orf173 antisense RNA 1 9 9 9 q34.3 110660255 110663535 - 140144671 140147949 - 137250219 137253497 - 14702039 100129722 ABBA01022752;AK097764;AMYH02021928;BX255925;CB047271;LK939026;NR_038389 Hs.656347 ncrna ENSG00000275549 HGNC:51176 VALIDATED 1353607 C9orf35 chromosome 9 open reading frame 35 p21.2 414160 AL163192 protein-coding HGNC:23388 1352754 C9orf38 chromosome 9 open reading frame 38 p24.1 29044 Q9UI66 AF090921;AL353718;XM_927012;XM_939946 AAF24038;CAH74115;Q9UI66;XP_932105;XP_945039 Hs.676462 5022578;5022651;5037552 D11S2921;D1S1423;D8S2279 PRO0365 protein-coding HGNC:23398 1323541 C9orf41 chromosome 9 open reading frame 41 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; benzo[a]pyrene diol epoxide I 9 9 9 q21.13 48175365 48220811 - 77595936 77643326 - 74981020 75028410 - 737633;6480464;8554872 12477932 14702039;15164053;15489334;17207965;21832049;21890473;23000965;24250222 138199 B4DSD4;Q5T8U9;Q5T8V1;Q8N4J0 ABBA01033890;ABBA01033891;AK098661;AK299691;AL158825;AMYH02021007;AMYH02021008;BC034033;BX538061;BX647386;CH471089;NM_152420;XM_005251701;XM_005251702;XR_242567 AAH34033;ACE87004;ACE87692;ADQ32135;BAC05369;BAG61596;CAD97992;EAW62565;EAW62566;EAW62567;NP_689633;Q8N4J0;XP_005251758;XP_005251759 Hs.567688 2013194;2013200;2013204;2098622 REN77532;REN77535;REN77537;stSG602705 FLJ25795 OTTHUMP00000021491;UPF0586 protein C9orf41;hypothetical protein LOC138199 protein-coding ENSG00000156017 HGNC:23435 12958 PREDICTED 1350600 C9orf40 chromosome 9 open reading frame 40 INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; calcitriol 9 9 9 q21.13 48135332 48141635 - 77561499 77567802 - 74946583 74952886 - 6480464 12477932;14702039;15164053;15489334;17081983;21139048;21890473;24250222;8125298 55071 Q8IXQ3 ABBA01033888;AK000972;AK225349;AL158825;AMYH02021006;BC039588;BM126413;CH471089;NM_017998 AAH39588;BAA91449;EAW62564;NP_060468;Q8IXQ3 Hs.532296 1671572;2157825 SHGC-64302;WI-12436 FLJ10110;FLJ25795 OTTHUMP00000021490;hypothetical protein LOC55071;uncharacterized protein C9orf40 protein-coding ENSG00000135045 HGNC:23433 12957 VALIDATED 8699321 C9orf41-AS1 C9orf41 antisense RNA 1 9 q21.13 77567870 77612298 + 12477932 101927380 AL158825;BC043649;BI552900;HG502141;NR_121183;XR_242626;XR_250486;XR_252595 Hs.257556 ncrna HGNC:51188 VALIDATED 1322222 C9orf24 chromosome 9 open reading frame 24 This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 9 9 9 p13.3 34310522 34329350 - 34379017 34397898 - 34379019 34397899 - 6480464 12029067;12477932;14702039;15242845;15862967;17207965;19213785;8125298;8401585;8889548 84688 H0Y454;Q5T5A1;Q8NCR6 AA338648;ABBA01065012;AF367474;AK058087;AK094751;AK225981;AL356494;AMYH02019445;AMYH02019446;AW961020;BC022084;BC029484;BI561111;CB854584;CH471071;NM_001252195;NM_032596;NM_147168;NM_147169;XM_005251616;XM_005251617;XM_005251618;XM_006716881;XM_006716882;XM_006716883;XM_006716884 AAH22084;AAH29484;AAK53410;ADQ31579;BAB71657;BAC04412;EAW58456;EAW58457;EAW58458;EAW58459;NP_001239124;NP_115985;NP_671697;NP_671698;Q8NCR6;XP_005251673;XP_005251674;XP_005251675;XP_006716944;XP_006716945;XP_006716946;XP_006716947 Hs.50334 1686512;2141726;2151144 D9S1929;RH12896;RH66380 CBE1;MGC32921;MGC33614;NYD-SP22;SMRP1;bA573M23.4 OTTHUMP00000000492;OTTHUMP00000000493;OTTHUMP00000000494;OTTHUMP00000000495;OTTHUMP00000000498;ciliated bronchial epithelial protein 1;ciliated bronchial epithelium 1;spermatid-specific manchette-related protein 1;testes development-related NYD-SP22;testis development protein NYD-SP22;uncharacterized protein C9orf24 APPROVED protein-coding ENSG00000164972 HGNC:19919 12949 REVIEWED 1320010 C9orf3 chromosome 9 open reading frame 3 This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 9 9 9 q22.32 67929905 68290531 + 97488886 97849500 + 94726604 95087218 + 737633;6480464;8554872 12477932 14702039;15164053;15342556;15489334;15687497;16344560;20379614;20932654;22544366;22632968;22885925;23251661 84909 B4DKT1;B4DQU3;B4DU39;H0Y7A8;H0Y7M4;H0YCM2;Q8N6M6;X6RBX4 ABBA01043625;ABBA01043626;ABBA01043627;ABBA01043628;ABBA01043629;ABBA01043630;ABBA01043631;ABBA01043632;AF043896;AF043897;AI982632;AJ560639;AK027581;AK057450;AK098242;AK296699;AK296782;AK298959;AK300486;AL157936;AL353768;AL354893;AL807757;AMYH02021261;AMYH02021262;AMYH02021263;AMYH02021264;BC020194;BC029616;BP274281;BQ448239;BX099259;BX648970;CH471174;DA222106;DA521148;NG_027833;NM_001193329;NM_001193331;NM_032823;XM_005252284;XM_006717306;XM_006717307 AAH20194;AAH29616;BAB55210;BAB71491;BAG59293;BAG59360;BAG61055;BAG62201;CAD90259;EAW92618;EAW92619;EAW92620;EAW92621;EAW92622;EAW92623;NP_001180258;NP_001180260;NP_116212;Q8N6M6;XP_005252341;XP_006717369;XP_006717370 Hs.434253 1643729;1652635;1664228;1666640;1666642;1667359;1668770;1676738;1680343;1680541;1707870;1708772;1715913;1719135;1755639;1773170;1774871;1779130;1780234;1849228;1850109;1850111;2128733;2129198;2135688;2140064;2154784;2165411;2165413;2167363 A006I15;D9S792;G09308;G20840;G29150;RH122691;RH123285;RH16396;RH18210;RH35946;RH41810;RH44616;RH45578;RH47885;RH47933;RH80162;RH80732;SGC35135;SHGC-142492;SHGC-154697;SHGC-32587;SHGC-33390;SHGC-33990;SHGC-35212;SHGC-81622;SHGC-82173;STS-N52510;STS-T91788;U57798;U57803 AP-O;APO;C90RF3;FLJ14675;FLJ40923;FLJ55832 AOPEP;ONPEP;OTTHUMP00000021698;OTTHUMP00000021700;OTTHUMP00000021701;OTTHUMP00000021702;aminopeptidase O APPROVED protein-coding ENSG00000148120 HGNC:1361 07476 REVIEWED 1606405 C9orf47 chromosome 9 open reading frame 47 FOUND IN extracellular region (inferred); INTERACTS WITH carmustine; temozolomide; torcetrapib 9 9 9 q22.1 62188427 62193706 + 91605778 91611057 + 88990863 88996142 + 6480464 12477932;14702039;15164053;22331829 286223 Q5SQD6;Q6ZRZ4 ABBA01004617;AK094842;AK127854;AK130650;AL831887;AMYH02021184;AY333281;BC136895;BC144432;CK905850;NM_001001938;NM_001142413 AAI36896;AAI44433;AAP93864;BAC04433;BAC87162;NP_001001938;NP_001135885;Q6ZRZ4 Hs.585118 C9orf108;FLJ37523;bA791O21.3 OTTHUMP00000021610;OTTHUMP00000215692;hypothetical protein LOC286223;uncharacterized protein C9orf47 protein-coding ENSG00000186354 HGNC:23669 12962 VALIDATED 1343208 C9orf62 chromosome 9 open reading frame 62 INTERACTS WITH aflatoxin B1; silicon dioxide 9 9 9 q34.3 108748379 108751686 + 138235095 138238408 + 135343249 135346562 + 737633;6480464 12477932 157927 Q8N4C0 ABBA01030031;AL353615;AMYH02021867;BC034752;LN608317;NM_173520 AAH34752;NP_775791;Q8N4C0 Hs.559511 5094220 G54620 MGC35463;RP11-555H7.1 putative uncharacterized protein C9orf62 protein-coding ENSG00000178243 HGNC:28581 VALIDATED 2290029 C9orf51 chromosome 9 open reading frame 51 INTERACTS WITH pentachlorophenol (ortholog); titanium dioxide (ortholog) p13.1 6480464 647044 B1ANY3 AL390726;XM_001713954;XM_930041;XM_940136 Q5VWG5;XP_001714006;XP_935134;XP_945229 bA392E22.4 protein-coding HGNC:23678 1606874 C9orf50 chromosome 9 open reading frame 50 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q34.11 103025311 103033860 - 132374504 132383055 - 129612225 129620776 - 6480464 12477932;14702039;16344560;21382349;22041458;23934736 375759 Q5SZB4 ABBA01043938;ABBA01043939;AK093122;AL391056;AL590369;AMYH02021741;AW468767;AW958564;AW958565;BC112353;CH471090;DB024443;JF442034;NM_199350 AAI12354;AEO12129;EAW87891;EAW87892;NP_955382;Q5SZB4 Hs.124223 FLJ35803 OTTHUMP00000022341;hypothetical protein LOC375759;uncharacterized protein C9orf50 protein-coding ENSG00000179058 HGNC:23677 14197 VALIDATED 1350435 C9orf56 chromosome 9 open reading frame 56 414154 HGNC:20950 1345654 C9orf73 chromosome 9 open reading frame 73 q22.31 14702039 286371 AK095132 Hs.711420 1339396;1713753;1773150 D9S1098;D9S1842;RH120763 protein-coding HGNC:27862 1345519 C9orf43 chromosome 9 open reading frame 43 ASSOCIATED WITH Melanoma (inferred) 9 9 9 q32 86820622 86839482 + 116172924 116191964 + 113410644 113429684 + 737633;8554872 12477932 15164053;15489334;16344560;20583170;21832049 257169 B2R9P8;B4DX97;Q8TAL5 ABBA01042684;AK301872;AK313867;AL137066;AMYH02021510;BC026884;BC033037;CH471090;DB048582;DB057586;NM_001278629;NM_001278630;NM_152786;XM_005251884;XM_005251885 AAH26884;AAH33037;BAG36595;BAG63309;EAW87383;EAW87384;EAW87385;EAW87386;NP_001265558;NP_001265559;NP_689999;Q8TAL5;XP_005251941;XP_005251942 Hs.632691 1788640 RH18148 MGC17358 OTTHUMP00000021960;OTTHUMP00000021961;hypothetical protein LOC257169;uncharacterized protein C9orf43 protein-coding ENSG00000157653 HGNC:23570 12959 VALIDATED 1322751 C9orf64 chromosome 9 open reading frame 64 INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; formaldehyde 9 9 9 q21.32 57124248 57142674 - 86553226 86571665 - 83938311 83956754 - 737633;6480464 12477932 14702039;15164053;15489334;19322201;20354154;20881960;21139048;21963094;22505724;24911101 84267 Q5T6V5;Q5T6V6;Q5T6V7 ABBA01034011;ABBA01034012;AK090882;AL354733;AMYH02021123;BC004407;BC137461;BC137462;BX116423;CH471089;DB464056;NM_032307;XM_005252271 AAI37462;AAI37463;BAC03538;EAW62672;EAW62673;EAW62674;NP_115683;Q5T6V5;XP_005252328 Hs.208914 1786918;5037552 D8S2279;SHGC-112554 MGC10999;RP11-575L7.5 OTTHUMP00000021562;OTTHUMP00000021563;UPF0553 protein C9orf64;hypothetical protein LOC84267 protein-coding ENSG00000165118 HGNC:28144 12969 611342 VALIDATED 1347775 C9orf66 chromosome 9 open reading frame 66 INTERACTS WITH aflatoxin B1; coumestrol 9 9 9 p24.3 127940 130725 - 213108 215893 - 213108 215893 - 6480464 12477932;14702039;15164053;18976975 157983 Q0VG94;Q5T8R8 ABBA01065460;AK055720;AL158832;AMYH02019023;BC111423;NG_017007;NM_152569 AAI11424;BAB70995;NP_689782;Q5T8R8 Hs.190877 5021872;5493463 UniSTS:486505;sY3084 FLJ31158;RP11-59O6.1 OTTHUMP00000022749;hypothetical protein LOC157983;uncharacterized protein C9orf66 protein-coding ENSG00000183784 HGNC:26436 12971 VALIDATED 1342941 C9orf57 chromosome 9 open reading frame 57 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,4-dinitrotoluene (ortholog); 6-propyl-2-thiouracil (ortholog); ammonium chloride (ortholog) 9 9 9 q21.13 45239014 45248238 - 74666275 74687728 - 72051381 72060605 - 737633;6480464 12477932 15164053;15489334 138240 A1L456;Q5W0N0 ABBA01033851;AL138751;AL583829;AMYH02020973;BC036255;BC044620;BC053956;BC130404;BC144273;CH471089;NM_001128618 AAI30405;AAI44274;EAW62527;NP_001122090;Q5W0N0 Hs.371235 1683918 RH92915 RP11-346E17.3 OTTHUMP00000021462;hypothetical protein LOC138240;uncharacterized protein C9orf57 protein-coding ENSG00000204669 HGNC:27037 VALIDATED 1602828 C9orf72 chromosome 9 open reading frame 72 Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 9 9 9 p21.2 27474665 27501967 - 27546543 27573864 - 27546545 27573866 - 6480464;7240710;8699517 11015796;12477932;12672552;14702039;15164053;15489334;16495328;19322201;19734901;20301623;20423481;20562461;20801717;20801718;21832049;21890473;21944778;21944779;22083254;22181065;22216764;22228244;22300873;22300876;22305801;22343411;22344582;22366791;22366792;22366793;22366794;22366795;22399792;22399793;22406228;22410647;22418734;22426854;22445326;22459598;22483864;22487746;22499346;22502998;22550220;22564974;22571983;22650353;22673113;22678362;22692064;22702520;22708871;22721568;22727276;22732773;22739338;22742426;22766072;22766732;22807188;22815561;22840558;22843265;22875086;22875087;22936364;22959728;22964910;22964911;22985429;23012445;23035801;23036583;23063644;23084342;23088937;23100398;23107433;23111906;23116878;23117491;23160421;23254636;23261768;23264878;23273600;23284068;23338682;23352322;23381195;23393093;23413259;23421625;23423380;23434116;23435409;23437264;23463871;23473366;23551834;23555189;23558488;23587638;23588422;23588498;23597494;23602568;23720273;23731538;23771489;23818065;23845100;23869403;23870417;23894576;23962495;24011653;24027057;24064469;24077574;24080172;24081456;24085347;24090760;24121957;24126854;24169076;24170860;24185425;24212388;24248382;24269022;24309270;24355526;24363131;24378086;24387985;24387986;24445580;24521566;24549040;24598541;24615479;24733620;24756204;24817207;24931836;25081482;25103406 203228 Q96LT7;Q9NUW0 ABBA01065127;AK001971;AK057806;AK291425;AL451123;AL832229;AL832467;AMYH02019355;AMYH02019356;BC020851;BC039112;BC068445;BG722125;CH471071;JN681271;NG_031977;NM_001256054;NM_018325;NM_145005;XM_006716739 AAH68445;ADR82709;AET41697;BAA92009;BAB71583;BAF84114;EAW58558;EAW58559;EAW58560;EAW58561;NP_001242983;NP_060795;NP_659442;Q96LT7;XP_006716802 Hs.493639 1298120;1298167;1337019;1681209;2141327;2175677 D9S1122;D9S301;D9S922;RH66179;SGC32711;SHGC-36542 ALSFTD;FTDALS;MGC23980;RP11-27J8.2 OTTHUMP00000021170;OTTHUMP00000021171;OTTHUMP00000021172;hypothetical protein LOC203228;uncharacterized protein C9orf72 APPROVED protein-coding ENSG00000147894 HGNC:28337 12975 105550;614260 VALIDATED 1349018 C9orf69 chromosome 9 open reading frame 69 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN positive regulation of cell proliferation; positive regulation of viral process; FOUND IN cytoplasm; nucleus; INTERACTS WITH diuron (ortholog) 9 9 9 q34.3 109524655 109528958 - 139006427 139010731 - 136114581 136118885 - 6480464 12477932;14702039;16344560;21667337;24250222 90120 H0YKC6;H0YL14;H3BQM9;H3BVA3 ABBA01030058;ABBA01030059;AK023162;AK091349;AL138781;AMYH02021893;BC009229;BC013282;BC014304;BC021231;BC064970;BC084549;BC092490;BC111053;DA685158;NM_001256526;NM_152833;XR_244778 H0YL14;NP_001243455;NP_690046 Hs.287411 2171721 STS-T50077 bA83N9.1 herpes virus UL25-binding protein;hypothetical protein LOC90120;uncharacterized protein LOC90120 protein-coding ENSG00000238227 HGNC:31009 VALIDATED 1313051 C9orf78 chromosome 9 open reading frame 78 FOUND IN cytoplasm; nucleus; INTERACTS WITH atrazine; paracetamol; zinc atom 9 9 9 q34.11 103240592 103248602 - 132589564 132597572 - 129827285 129835293 - 6480464 11042152;12097419;12477932;14702039;15164053;15302935;15489334;15592455;16169070;16712791;17081983;18029348;18654987;20360068;21044950;21139048;21832049;21900206;22412018;22863883;24816145;8889548 51759 Q9NZ63 ABBA01043951;AF151054;AF218421;AK057004;AK097577;AL137549;AL158207;AMYH02021746;AY632862;BC007664;BC017570;BC037173;BU674575;CB128496;CH471090;NM_016520 AAF36140;AAF37561;AAH07664;AAH17570;AAT46619;BAG51840;CAB70805;EAW87909;EAW87910;NP_057604;Q9NZ63 Hs.278429 1762657;2114910;2152953;5015619;5015961;5022322;5024756;5037552 D11S2560;D11S3114;D15S1477;D8S2279;RH71165;RH80030;SHGC-146454;STS-W80591 HCA59;HSPC220;bA409K20.3 OTTHUMP00000022352;hepatocellular carcinoma-associated antigen 59;uncharacterized protein C9orf78 protein-coding ENSG00000136819 HGNC:24932 10803 VALIDATED 1353846 C9orf9 chromosome 9 open reading frame 9 FOUND IN cytoplasmic microtubule; INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 9 9 9 q34 106296025 106307156 + 135754282 135765419 + 132878895 132890031 + 6480464 12477932;14702039;15164053;15489334;16169070;16303743;21048031;21900206;22505724;24816145 11092 Q6ZNY5;Q96E40 ABBA01032479;AJ011375;AK075259;AK130389;AL445645;AMYH02021817;BC012940;CH471090;CQ783377;CR457210;NM_018956;XM_005272164 AAH12940;ADZ15821;BAC11503;BAC85340;CAB66158;CAF86580;CAG33491;EAW88018;EAW88019;EAW88020;NP_061829;Q96E40;XP_005272221 Hs.62595 1771984;5014051;5015619;5015879;5016478;5020881;5020948;5022578;5037552 2008;D11S3114;D1S1423;D8S2278;D8S2279;G35510;GDB:314949;GDB:434012;L17709 FLJ26879 OTTHUMP00000022441;OTTHUMP00000022442;Rsb-66 protein;Rsb66 homolog;uncharacterized protein C9orf9 protein-coding ENSG00000165698 HGNC:1367 12986 PROVISIONAL 1351188 C9orf84 chromosome 9 open reading frame 84 INTERACTS WITH 17beta-estradiol; copper atom; copper(0) 9 9 9 q31.3 84947957 85044839 - 114448901 114557556 - 111686519 111795276 - 6480464 12477932;14702039;15164053;16344560;18812090;21771883 158401 A6PVK7;Q5VXU9;Q6ZU10 ABBA01042723;ABBA01042724;ABBA01042725;ABBA01042726;AK057341;AK126055;AL135787;AL354877;AL356491;AL704322;AL833535;AMYH02021478;BC041858;BC112357;BC144680;CH471105;DB066382;DB088747;NM_001080551;NM_173521;NR_109816;XM_005251738;XM_006716974;XM_006716975;XM_006716976;XM_006716977 AAI12358;BAB71436;BAC86417;EAW59088;EAW59089;EAW59090;NP_001074020;NP_775792;Q5VXU9;XP_005251795;XP_006717037;XP_006717038;XP_006717039;XP_006717040 Hs.428209 1663193;2184447 G31134;SGC38204 FLJ32779;FLJ44067;MGC43661 OTTHUMP00000021923;OTTHUMP00000161933;OTTHUMP00000196461;hypothetical protein LOC158401;uncharacterized protein C9orf84 protein-coding ENSG00000165181 HGNC:26535 12982 VALIDATED 1314456 C9orf89 chromosome 9 open reading frame 89 FOUND IN Golgi apparatus; nucleus; INTERACTS WITH atrazine; benzo[a]pyrene; copper(2+) sulfate 9 9 9 q22.31 66300177 66317285 + 95858450 95875565 + 93096168 93113283 + 737633;6480464 12477932 14702039;15164053;15489334;15637807;23633586 84270 Q96LW7 ABBA01018603;AK057716;AK091611;AK097977;AK128259;AL451065;AMYH02021233;AW207349;BC004500;BC038856;BC042201;BC091476;CH471089;NM_032310;XM_005252273;XM_005252274;XR_428540 AAH04500;AAH38856;BAB71550;EAW62850;EAW62851;EAW62852;EAW62853;EAW62854;EAW62855;NP_115686;Q96LW7;XP_005252330;XP_005252331 Hs.434213 1677564;1728761;1729575;1729898;5022200;5022578;5022651;7184633 D11S2921;D1S1423;D9S119;D9S12;G54480;L18426;RH65765 MGC110898;MGC11115;bA370F5.1 Bcl10-interacting protein with CARD;BinCARD;OTTHUMP00000021671;bcl10-interacting CARD protein protein-coding ENSG00000165233 HGNC:28148 12985 VALIDATED 1605873 C9orf85 chromosome 9 open reading frame 85 INTERACTS WITH calcitriol; cyclosporin A; ethyl methanesulfonate 9 9 9 q21.13 45099152 45161076 + 74526190 74588373 + 71911507 71973457 + 6480464 12477932;14702039;15164053;15489334;16712791;17207965 138241 E9PN32;F6X0R3;H3BLX8;Q96MD7 ABBA01033843;ABBA01033844;ABBA01033845;ABBA01033846;AK307186;AK311206;AL138751;AMYH02020971;BC010179;BC028019;BC052375;BQ020559;BQ431408;BX104173;CB113688;CH471089;NM_182505 AAH52375;ADQ32587;EAW62523;EAW62524;EAW62525;EAW62526;NP_872311;Q96MD7 Hs.534190 1773327;2140991;2175063;5015861;5022425;5022578;5022651;5093240;7185938 A009K05;D10S16;D11S2921;D1S1423;D22S296;G32602;RH69359;WI-13979 MGC61599;RP11-346E17.2 OTTHUMP00000021459;OTTHUMP00000021460;OTTHUMP00000021461;hypothetical protein LOC138241;uncharacterized protein C9orf85 protein-coding ENSG00000155621 HGNC:28784 12983 VALIDATED 1321274 C9orf94 chromosome 9 open reading frame 94 p22.1 12477932;14702039;15164053;15489334 206938 AK092602;AK123028;AK128724;AL158150;AL591423;BC100788;BC100789;BC100790;BX640951;NM_001040272 AAI00789;AAI00790;AAI00791;BAC03925;BAC87592;CAE45975;CAM13086;CAM14351;CAM14352;NP_001035362;Q496M7;Q496M8;Q6MZQ3;Q6ZQU1 Hs.643388 FLJ35283;MGC118803;MGC118805 protein-coding HGNC:26642 12989 1349109 C9orf92 chromosome 9 open reading frame 92 9 9 9 p22.3 16131238 16203619 - 16203933 16276311 - 16203935 16276313 - 11329013;15164053 100129385 A6NGG3;H7C3I8 ABBA01065260;AI167486;AL513424;AMYH02019220;AW779702;BG207459;NM_001271829;NR_073471;XM_006716713 A6NGG3;NP_001258758;XP_006716776 Hs.586441 1340310;1691126;1729662;1778540;1778647;7186427 AFM051xd6;D8S209;D9S156;D9S1917;D9S908 Em:AL513424.1 putative uncharacterized protein C9orf92 protein-coding ENSG00000205549 HGNC:19054 VALIDATED 1352724 CA10 carbonic anhydrase X This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21.33 46168954 46698633 - 49707674 50237377 - 51630313 52160017 - 1580863;6480464;8554872 11230166;11311946;12044474;12477932;12500287;12975309;15328829;15489334;15499993;16344560;17081983;19172221;19240061;20379614;21102462;23400010;24407380;8673298;9921901 56934 B4DGL6;I3L0J7;I3L375;I3NI54;Q68D28;Q9NS85 AB001597;AB036836;ABBA01041266;ABBA01041267;ABBA01041268;ABBA01041269;ABBA01041270;AC002090;AC004108;AC005883;AC006083;AC016473;AC092713;AF288385;AK294652;AK313001;AL161812;AMYH02033623;AMYH02033624;AMYH02033625;AW135066;AY358509;BC020577;BC029865;BC047456;BC068462;CH471109;CR749607;DA110822;DA128892;DA518921;KC877658;KF456288;KF456289;KF456292;KF511488;NM_001082533;NM_001082534;NM_020178;XM_005257523 AAH20577;AAH29865;AAH47456;AAH68462;AAK11974;AAQ88873;ADZ15875;BAB00615;BAB46928;BAG35837;BAG57827;CAB82105;CAH18402;EAW94558;NP_001076002;NP_001076003;NP_064563;Q9NS85;XP_005257580 Hs.463466 1335200;1336122;1340733;1341327;1651864;1661830;1665711;1673878;1689320;1695280;1708696;1718705;1722763;1754697;2150280;2181411;2182138;2218326;7186585 A002U30;A008O45;CA10_4487;D17S1388E;D17S1820;D17S2122;D17S809;D17S941;D17S956;G60320;RH11759;RH124024;RH91156;SHGC-133050;SHGC-62998;SHGC-81490;STS-N26826;WI-22496 CA-RP X;CA-RPX;CARP X;CARPX;HUCEP-15 carbonic anhydrase-related protein 10;carbonic anhydrase-related protein X;cerebral protein 15;cerebral protein-15 APPROVED protein-coding ENSG00000154975 HGNC:1369 05224 604642 REVIEWED 1322168 CA13 carbonic anhydrase XIII Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008] 8 8 8 q21.2 82162764 82201350 + 86157716 86196302 + 85245487 85284073 + 1580863;6480464;8554872 12477932;14600151;14702039;15489334;15836783;16344560;17207965;18336313;23720494 377677 Q8N1Q1 ABBA01004009;ABBA01004010;AC011773;AC025800;AK095314;AMYH02018351;BC052602;CH471068;DB287770;NM_198584 AAH52602;ADQ32140;BAC04528;EAW87128;NP_940986;Q8N1Q1 Hs.127189 1675969;2126295;5015861;5022425;5037552;7185938 D10S16;D22S296;D8S2279;RH99059;WI-16869 CA-XIII;CAXIII;FLJ36434;FLJ37995;MGC59868 OTTHUMP00000227972;carbonate dehydratase XIII;carbonic anhydrase 13 APPROVED protein-coding ENSG00000185015 HGNC:14914 12992 611436 VALIDATED 1320302 CA1 carbonic anhydrase I Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 8 8 8 q21.2 82245509 82295378 - 86240458 86290342 - 85328229 85378113 - 1580863;6480464;8554872 11392054;11680594;12009884;12477932;14675565;15342556;15489334;15836783;15837325;1602151;16870440;17192395;17314045;17464559;18029348;1916821;19536309;20624682;21143847;2121614;21900206;21988832;22360420;22416960;22619369;22996014;23213568;23218470;23327700;23339426;23356845;23389367;23557951;23720494;23774970;23798711;23859774;23867389;23892086;23993330;24289818;24878360;2511043;3088232;3104879;3124707;406674;4207120;4217196;4625868;4632246;6781336;7574487;7866410;804171;827930;9879596 759 E5RFE7;E5RFL2;E5RG43;E5RG81;E5RGU8;E5RH81;E5RHP7;E5RHS7;E5RIF9;E5RII2;E5RJF6;E5RJI8;H0YBE2;P00915;V9HWE3 ABBA01004009;AC025800;AI802646;AMYH02018351;AMYH02018352;BC027890;BP261967;BU655910;BU656154;BU658617;BU659301;BU659695;BU661390;BU663330;BU664306;BU665210;CH471068;EU794595;JC427562;M33987;NG_016221;NM_001128829;NM_001128830;NM_001128831;NM_001164830;NM_001291967;NM_001291968;NM_001738;X05014 AAA51910;AAH27890;ABM81856;ABM85017;ACJ13649;CAA28663;CDM63663;EAW87129;EAW87130;EAW87131;EAW87132;NP_001122301;NP_001122302;NP_001122303;NP_001158302;NP_001278896;NP_001278897;NP_001729;P00915 Hs.23118 1723615;2148816;2217094 CA1_3942;RH118415;SHGC-31642 CA-I;CAB;Car1;HEL-S-11 OTTHUMP00000227973;OTTHUMP00000227974;OTTHUMP00000227976;OTTHUMP00000227977;OTTHUMP00000227978;OTTHUMP00000227979;OTTHUMP00000227981;carbonate dehydratase I;carbonic anhydrase 1;carbonic anhydrase B;carbonic dehydratase;epididymis secretory protein Li 11 APPROVED protein-coding ENSG00000133742 HGNC:1368 00265 114800 REVIEWED 6898050 CA15P1 carbonic anhydrase XV, pseudogene 1 22 19018766 19022784 - 16083424 100996435 ABBA01005426;AC000095 pseudo HGNC:44364 MODEL 1312125 C9orf91 chromosome 9 open reading frame 91 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 9 9 9 q32 88021359 88056348 + 117373706 117408703 + 114611426 114646423 + 737633;6480464 12477932 11076863;11230166;14702039;15489336;16344560;16381901;19322201;21988832;8619474;9110174 203197 Q5VZI3 ABBA01042663;ABBA01042664;ABBA01042665;AF038174;AK095364;AK098022;AK289383;AL160275;AL557166;AL834412;AMYH02021519;BC010029;BC019913;BC062550;BC107133;BC107134;BI553818;BQ049157;BX649023;CH471090;DB199443;NM_153045;XM_005251789;XM_005251790;XM_005251791;XM_006716997 AAH19913;AAH62550;AAI07134;AAI07135;BAC04537;BAF82072;CAD39074;CAL37803;EAW87426;EAW87427;EAW87428;NP_694590;Q5VZI3;XP_005251846;XP_005251847;XP_005251848;XP_006717060 Hs.522357 1662970;1666304;1771976;1787058;2152588;5020948;5022200 CHLC.GGAT3C11;G35303;G35510;L18426;NIB917;RH11942;SHGC-154091 DKFZp547P234;FLJ38045;MGC129868;MGC129869;RP11-402G3.2 OTTHUMP00000021980;OTTHUMP00000021981;transmembrane protein C9orf91 protein-coding ENSG00000157693 HGNC:24513 12988 VALIDATED 1348503 CA11 carbonic anhydrase XI Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46006137 46014315 - 49141272 49149451 - 48637946 48646374 - 1580863;6480464;8554872 10350627;11311946;12044474;12477932;12975309;15489334;16335952;18450452;21060863;21926972;23300138;9878252;9878543 770 M0QXK8;O75493 AB018195;ABBA01032978;AC008888;AF050106;AF067662;AMYH02036305;AMYH02036306;AY358967;BC002662;BT007265;BX440526;CH471177;CR541772;NM_001217;XR_243956 AAC99689;AAD08802;AAH02662;AAP35929;AAQ89326;ACE86910;ACE87597;BAA36840;CAG46571;EAW52376;EAW52377;EAW52378;NP_001208;O75493 Hs.428446 5112293 RH103095 CA-RP II;CA-XI;CARP XI;CARP-2;CARP2;CARPX1 carbonic anhydrase-related protein 11;carbonic anhydrase-related protein 2;carbonic anhydrase-related protein XI APPROVED protein-coding ENSG00000063180 HGNC:1370 05225 604644 REVIEWED 6897921 CA15P3 carbonic anhydrase XV, pseudogene 3 22 q11.21 21708005 21714771 + 16083424 100996556 XM_003846306 XP_003846354 carbonic anhydrase 15-like protein-coding HGNC:44363 6902306 CA15P2 carbonic anhydrase XV, pseudogene 2 22 22 22 q11.21 2871067 2874810 - 20485854 20487364 - 18635987 18637497 - 16083424 440795 ABBA01009187;AC023490;AMYH02038060;NG_029357 1683523;1767133;1767135;2112410 A001T42;D22S1611;G19640;RH25381 pseudo HGNC:14916 INFERRED 1317436 CA14 carbonic anhydrase XIV Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008] 1 1 1 q21 123345949 123353209 + 150229554 150237478 + 150257159 150265078 + 1580863;6480464 10512682;11172051;12028451;12477932;12611920;12975309;14578124;14702039;15489334;16710414;17881426;20170095;20379614;21988832 23632 A8K3J4;Q9ULX7;U3KPU6;U3KQH0 AB025904;ABBA01049330;AC242988;AK074765;AK290609;AK295341;AK315469;AL138795;AY358689;BC034412;BT020054;CH471121;NM_012113;XM_005245059;XM_005245060;XM_006711259;XM_006711260;XM_006711261 AAH34412;AAQ89052;AAV38857;ABM84715;ABM92237;BAA85002;BAC11191;BAF83298;BAG37855;BAG58312;CAI22810;EAW53570;EAW53571;EAW53572;EAW53573;EAW53574;NP_036245;Q9ULX7;XP_005245116;XP_005245117;XP_006711322;XP_006711323;XP_006711324 Hs.528988 1652765;1655085;2109103 CA14_9388;SGC31751;SHGC-32182 CA-XIV;CAXiV OTTHUMP00000014540;carbonate dehydratase XIV;carbonic anhydrase 14;carbonic dehydratase APPROVED protein-coding ENSG00000118298 HGNC:1372 05320 604832 REVIEWED 1344775 CA5AP1 carbonic anhydrase VA pseudogene 1 16 16 p11.2 29630106 29648664 - 29618785 29637343 - 15837316;7490083 764 ABBA01013123;ABBA01013124;ABBA01013125;ABBA01013126;ABBA01013127;AC009086;AC243806;NG_027849;XM_113281 CA5P APPROVED pseudo HGNC:1379 INFERRED 1315327 CA12 carbonic anhydrase XII Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014] 15 15 15 q22 40494364 40552718 - 63615730 63674326 - 63323531 63381876 - 6480464;7240710;8554872;8699517 10512682;10611263;10666387;11083462;11101628;11238049;11420383;11493685;11680594;12477932;12676895;12854129;12923247;14578124;14702039;15489334;15849821;16169070;16416108;18029348;18322268;18336315;18451179;19291313;20132413;20215053;20398423;20434230;20509747;21035102;21040567;21139048;21184099;21278619;21900206;22172588;22439015;22944692;23348702;23383108;23910904;24878360;8524854;9636197;9770531 771 B3KUB4;O43570 ABBA01038912;ABBA01038913;AC087525;AF037335;AF051882;AK000158;AK096845;AK315769;AMYH02030584;BC000278;BC001012;BC011691;BC023981;BC087838;BM994285;BQ440047;BT006656;BU167720;BU944741;CA309380;CH471082;DA509400;DA546357;KF495770;NG_028022;NM_001218;NM_001293642;NM_206925 AAC39789;AAC63952;AAH00278;AAH01012;AAH11691;AAH23981;AAP35302;ABM84114;ABM87510;ACE86537;ACE86542;ACE87216;ACE87223;BAA90981;BAG38121;BAG53376;EAW77646;EAW77647;EAW77648;EAW77649;EAW77650;NP_001209;NP_001280571;NP_996808;O43570 Hs.210995 1644386;1760859;1763507;1848736;1853234;2107905;2185289 CA12_8238;D15S1357;RH47249;SHGC-144530;SHGC-147205;SHGC-32776;SHGC-36693 CA-XII;CAXII;FLJ20151;HsT18816 OTTHUMP00000163786;OTTHUMP00000163787;carbonate dehydratase XII;carbonic anhydrase 12;carbonic dehydratase;tumor antigen HOM-RCC-3.1.3 APPROVED protein-coding HGNC:1371 04464 143860;603263 REVIEWED 6481393 CA5B-AS1 CA5B antisense RNA 1 100873927 AC096510 APPROVED miscrna HGNC:40115 1353547 CA3 carbonic anhydrase III, muscle specific Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008] 8 8 8 q21.2 82356136 82366348 + 86351056 86361269 + 85438827 85449040 + 1580863;6480464;8554872 10845711;11024467;11976500;120192;12171926;12477932;12484342;12745799;1361281;1414196;14702039;15489334;16344560;17207965;1764784;18322545;18444244;1905166;19301202;1971453;22797148;23049597;23720494;23824909;23981757;2824285;3000276;3086182;3099285;3106467;3110380;3122635;3930440;6119426;6221502;6410007;6770531;6784712;7574487;8506074;8633035;9651514;9890711 761 E5RHI4;P07451;V9HWA3 ABBA01004009;AC084734;AJ006473;AK096880;AK300670;AK300677;AK313254;AMYH02018352;BC004897;CH471068;DA421884;EU794596;M29452;M29453;M29454;M29455;M29456;M29457;M29458;NM_005181 AAA52293;AAH04897;ACJ13650;ADQ31847;BAG36064;BAG53390;BAG62355;BAG62360;CAA07056;EAW87133;EAW87134;NP_005172;P07451 Hs.82129 1712218;1722435;1741625;2157558;2168883;5022592 D8S1367E;G54016;G60292;GDB:181594;SHGC-35614;WI-16407 CA-III;CAIII;Car3;FLJ36434 HEL-S-167mP;OTTHUMP00000227990;carbonate dehydratase III;carbonic anhydrase 3;epididymis secretory sperm binding protein Li 167mP APPROVED protein-coding ENSG00000164879 HGNC:1374 00260 114750 REVIEWED 737257 CA2 carbonic anhydrase II The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] 8 8 8 q22 82381194 82398781 + 86376131 86393721 + 85463902 85481492 + 1600698;1600710;1580863;1300048;6480464;6907045;7240710;8554872;8699517 10977795;1301935 10231836;10333352;10423017;10811634;10820026;10821857;11063570;11076507;11264157;114507;11457932;11606574;11956656;12056894;12138085;12171926;12411514;12477932;12501217;12566520;12826902;12933803;14567693;14578124;14675051;14675565;14718574;14736710;14760703;15049705;15062553;15218065;15300855;1542674;15453828;15489334;15667203;15836783;15837316;15837325;15952740;15990874;1602151;16106378;16169070;16196087;16265785;16344560;16475831;16687407;16825953;16996812;17202139;17319692;17319695;17363915;17631639;17881426;18029348;18060825;18083150;18189416;18247480;18323598;18539591;18580434;18942852;18976975;19012038;19034380;19056867;1925679;19269136;1928091;19371798;19407386;19415900;19520834;19583303;19615732;19634894;19686046;1977133;20000378;20025241;20081808;20170095;20297840;20360068;20398423;20445237;20445238;20509747;20578724;20634585;20637176;20693695;20849852;21139048;21145461;21145876;2117271;2121671;2123360;21243755;21282642;21543742;21680735;21890473;21988105;22001224;22192857;22386980;22416960;22732064;22878862;23030313;23098192;23181366;23215152;23360090;23674848;23720494;23727877;23737439;23953824;24036123;24813993;24878360;2850697;3000449;3081869;3107918;3108857;3121496;3151019;3151020;3221988;3925334;4207120;4621826;4624444;6407977;6817747;7574487;7627193;7930522;8127074;8128957;823150;8460098;8834238;9143915;9150731;9205766;9336790;9453381;9541386;9774471;9890926 760 E5RID5;E5RK37;P00918;V9HW21 ABBA01004009;AC084734;AF015039;AK312978;AMYH02018352;BC011949;BC035424;CD013933;CH471068;CR536526;CR541875;DA431650;FJ224289;J03037;M36532;M77178;M77181;NG_007287;NM_000067;NM_001293675;S69526;X03251;Y00339 AAA51908;AAA51909;AAA51911;AAB30170;AAH11949;ABM82246;ABM85430;ACI45981;BAG35815;CAA27012;CAA68426;CAG38763;CAG46673;EAW87136;NP_000058;NP_001280604;P00918 Hs.155097 1694926;1722451;1852788;2114723;5109679 D8S1418E;D8S1912;G44354;G60153;RH11468 CA-II;CAC;CAII;Car2;HEL-76 OTTHUMP00000227991;carbonate dehydratase II;carbonic anhydrase 2;carbonic anhydrase B;carbonic anhydrase C;carbonic dehydratase;epididymis luminal protein 76 APPROVED protein-coding ENSG00000104267 HGNC:1373 02023 259730;611492 REVIEWED 1353429 CA4 carbonic anhydrase IV Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008] 17 17 17 q23 54687198 54696791 + 58227302 58236907 + 60149941 60159546 + 1600730;1580863;6480464;7240710;8554872;8699517 15090652 10090333;10231836;11994299;12477932;1311094;14567693;15326289;15489334;15563508;16344560;17207965;17409381;17500595;17652713;17881426;18344446;1901414;19211803;20301590;20308551;20450258;20626030;20801516;2111324;2116168;21680735;21988832;22021688;23049597;23297198;24146379;24338019;24880201;6811592;7581389;7625839;7672351;8064130;8325641;8675662;8809084;8903383;8942978;9385361;9632745 762 K7EIH9;K7EKY5;K7ENI8;P22748 ABBA01035417;AC025048;AI990988;AK289715;AK298710;AMYH02033721;BC057792;BC069649;BC074768;CH471109;CR541766;DA113846;L10955;M83670;NG_012050;NM_000717;XM_005257639 AAA35625;AAA35626;AAA35630;AAH57792;AAH69649;AAH74768;ADQ32513;BAF82404;BAG60866;CAG46565;EAW94361;EAW94362;EAW94363;NP_000708;P22748;XP_005257696 Hs.89485 1337712;1339975;1676488;2180226 D17S807;D17S808;RH71355;RH79679 CA-IV;CAIV;Car4;RP17 carbonate dehydratase IV;carbonic anhydrase 4;carbonic dehydratase IV APPROVED protein-coding ENSG00000167434 HGNC:1375 00261 114760;600852 REVIEWED 1323700 CA6 carbonic anhydrase VI The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008] 1 1 1 p36.2 8114641 8143865 + 9005893 9035151 + 8945834 8975092 + 1580863;6480464;8554872 10207193;10415846;10523402;10705347;11303978;11304804;11553764;11875253;12477932;15342556;16502470;16710414;17499996;1899030;19199708;19721466;20379614;20631203;2113069;21631296;21712049;22198626;22366092;23652931;24040192;2433278;24722188;2505973;8429198;9439449;9691177;9784398 765 B4DUH8;F8W148;P23280;Q8N4G4 AB102863;AB103091;ABBA01035528;ABBA01035529;ABBA01035530;ABBA01035531;AF128418;AK300652;AL139415;AMYH02000227;AMYH02000228;BC034350;BP333541;BP334640;BX282262;CB956732;CH471130;M57892;NG_033975;NM_001215;NM_001270500;NM_001270501;NM_001270502 AAA51892;AAF22565;AAH34350;ADZ15992;BAD89397;BAD89434;BAG62340;EAW71606;NP_001206;NP_001257429;NP_001257430;NP_001257431;P23280 Hs.100322 1745773;2129525 GDB:636125;SHGC-74181 CA-VI;MGC21256 GUSTIN;OTTHUMP00000001699;OTTHUMP00000242906;OTTHUMP00000242907;carbonate dehydratase VI;carbonic anhydrase 6;salivary carbonic anhydrase;secreted carbonic anhydrase APPROVED protein-coding ENSG00000131686 HGNC:1380 00264 114780 REVIEWED 1346033 CA5BP1 carbonic anhydrase VB pseudogene 1 ENCODES a protein that exhibits carbonate dehydratase activity (inferred); zinc ion binding (inferred); INVOLVED IN metabolic process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH acetylsalicylic acid; hydrogen peroxide; lead(0) X X X p22.2 19808527 19836963 + 15693039 15721474 + 15674916 15703351 + 737633;1580863;6480464 12477932 12107413;16344560 340591 Q8WTZ4;Q9P170 ABBA01071335;ABBA01071336;ABBA01071337;ABBA01071338;ABBA01071339;AC112497;AMYH02038916;BC021816;BQ228866;CD675860;DB271346;NR_026551 Q8WTZ4 Hs.732244 1656675;1699328;1727615;2144835 G31008;G63217;RH103251;RH78665 CA5BL;CA5BP;PRO2325 APPROVED pseudo ENSG00000186312 HGNC:29544 VALIDATED 1343079 CA5B carbonic anhydrase VB, mitochondrial Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VB is localized in the mitochondria and shows the highest sequence similarity to the other mitochondrial CA, CA VA. It has a wider tissue distribution than CA VA, which is restricted to the liver. The differences in tissue distribution suggest that the two mitochondrial carbonic anhydrases evolved to assume different physiologic roles. [provided by RefSeq, Jul 2008] X X X p21.1 19872853 19923232 + 15756412 15805748 + 15738289 15787625 + 1580863;6480464 10409679;10677517;11303978;12477932;14702039;15342556;15489334;17174092;17207965;19322201;7574487 11238 C9IZP3;C9JA11;H7C4G3;Q9Y2D0 AA811880;AB021660;ABBA01071344;ABBA01071345;ABBA01071346;ABBA01071347;ABBA01071348;ABBA01071349;ABBA01071350;ABBA01071351;AC096510;AC112497;AK057568;AK291050;AMYH02038918;AMYH02038919;AMYH02038920;BC028142;BP371510;CH471074;NG_012766;NM_007220;XM_005274442 AAH28142;ADQ32291;BAA76671;BAF83739;EAW98895;EAW98896;EAW98897;EAW98898;NP_009151;Q9Y2D0;XP_005274499 Hs.653287 1656445;1656675;1681895;1701782;1702968;1852010;2114626;2143170;5014051;5015619;5016596;5020948;5022200;5022450;5037552;5112017 Cda1bf09;D10S275;D11S3114;D8S2278;D8S2279;DXS1292;DXS1351;DXS6753;G24103;G31008;G35510;G44365;GDB:631802;L17739;L18426;RH47691 CA-VB;MGC39962 OTTHUMP00000215056;carbonate dehydratase VB;carbonic anhydrase 5B, mitochondrial;carbonic dehydratase APPROVED protein-coding ENSG00000169239 HGNC:1378 02207 300230 REVIEWED 1347153 CA5A carbonic anhydrase VA, mitochondrial Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008] 16 16 16 q24.3 72219173 72267375 - 87921625 87970173 - 87888019 87936569 - 1580863;6480464;8699517 10082753;12477932;17174092;20877624;21906983;22632162;24530203;7490083;8356065;9733757 763 P35218 ABBA01006923;ABBA01006924;ABBA01006925;AC127455;AC133539;AMYH02032627;BC137405;BC137411;CH471114;L19297;NG_033227;NM_001739;S80181;U25134;XM_005256134 AAA02890;AAB47048;AAC99806;AAI37406;AAI37412;EAW95371;EAW95372;NP_001730;P35218;XP_005256191 Hs.177446 1685768;1703702;1757011;2128177;2167638 RH70394;RH71359;SHGC-144370;SHGC-64110;SHGC-78863 CA-VA;CA5;CA5AD;CAV;CAVA OTTHUMP00000175040;carbonate dehydratase VA;carbonic anhydrase 5A, mitochondrial;carbonic anhydrase V, mitochondrial;carbonic dehydratase APPROVED protein-coding HGNC:1377 00262 114761;615751 REVIEWED 1312313 CA8 carbonic anhydrase VIII The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. [provided by RefSeq, Jul 2008] 8 8 8 q12.1 57092480 57182989 - 61101423 61193954 - 60188864 60281395 - 1580863;6480464;7240710;8554872;8699517 12044474;12477932;12536316;12611586;14702039;15489334;16169070;17207965;17219437;19172221;19360879;19461874;20819067;21139048;21348951;21812104;21890473;22952603;23251661;24476000;24794067;7587398;7821612;8482548;8977131 767 P35219 ABBA01041806;ABBA01041807;ABBA01041808;AC021393;AC132834;AK090655;AK289470;AK293999;AK314538;AMYH02018050;AY075022;BC015531;BC069744;BC069794;BC108929;BM462961;BU182748;CH471068;L04656;NG_023193;NM_004056 AAA35653;AAH69744;AAH69794;AAI08930;AAL78170;ADQ32952;BAF82159;BAG37128;BAG52209;BAG57361;EAW86824;EAW86825;EAW86826;NP_004047;P35219 Hs.654388 1663421;1669014;1672244;1673079;1696372;1698416;1716197;1718613;1847711;1849836;1855476;1855563;2140741;2150351;2165212;2175435 RH102752;RH121122;RH122992;RH16300;RH16303;RH70118;RH70985;SGC34477;SGC44649;SHGC-32354;SHGC-34991;SHGC-44649;SHGC-77819;STS-H58922;WI-17948;WI-21909 CA-VIII;CALS;CAMRQ3;CARP;MGC120502;MGC99509 CA-related protein;OTTHUMP00000229370;carbonate dehydratase;carbonic anhydrase-like sequence;carbonic anhydrase-related protein APPROVED protein-coding HGNC:1382 00266 114815;613227 REVIEWED 1319011 CAB39L calcium binding protein 39-like INVOLVED IN cell cycle arrest (inferred); insulin receptor signaling pathway (inferred); PARTICIPATES IN mTOR signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; calcitriol; cytarabine 13 13 13 q14.2 30938637 31073173 - 49882786 50018221 - 49308650 49444126 - 1580863;6480464;6907045 12477932;12601173;14702039;15057823;15489334;16054041;16344560;17353931;18592235;20379614;20562859;20706999;21240483;23135622;8889548 81617 B7ZBJ4;B7ZBJ5;B7ZBJ6;B7ZBJ7;Q5TAW7;Q86WE6;Q9H9S4 AA278473;ABBA01051015;ABBA01051016;AK022639;AK309011;AL136218;AL138875;AMYH02028010;AW134845;AX105381;AY211923;AY288977;BC010993;BX647518;CA450475;CH471075;DA146462;DB033467;DB051338;DB279812;DB457246;HY043965;KF455771;NM_001079670;NM_001287337;NM_001287338;NM_001287339;NM_030925 AAH10993;AAO65176;AAQ93064;BAB14147;CAC37735;EAX08820;EAX08821;EAX08822;EAX08823;NP_001073138;NP_001274266;NP_001274267;NP_001274268;NP_112187;Q9H9S4 Hs.742971;Hs.87159 1334605;1646976;1682483;1699448;1761641;2110291;2138912;2158159;2166912;7186549 CAB39L__4492;D13S1185;D13S165;D13S1678;G17736;RH103315;RH91905;SHGC-145628;STS-N23383 FLJ12577;MO25-BETA;MO2L;RP11-103J18.3;bA103J18.3 MO25beta;OTTHUMP00000018410;OTTHUMP00000018411;OTTHUMP00000018412;OTTHUMP00000205794;U937-associated antigen;antigen MLAA-34;calcium-binding protein 39-like;mo25-like protein;sarcoma antigen NY-SAR-79 protein-coding ENSG00000102547 HGNC:20290 12993 612175 VALIDATED 1315686 CA7 carbonic anhydrase VII Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the salivary glands. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51386593 51396359 + 66878282 66888052 + 66844379 66854149 + 1580863;6480464;8554872 10493829;11875253;12417987;12477932;15489334;15528236;15686895;1783392;20493921;23851572;7574487 766 F8W0L0;P43166 ABBA01025418;AC004638;AC044802;AMYH02032217;AY075019;AY075020;BC033865;BI752037;CH471092;M76420;M76421;M76422;M76423;M76424;M76425;NM_001014435;NM_005182;XM_005256135;XM_005256136;XM_006721267;XM_006721268 AAA51923;AAC23785;AAH33865;AAL78167;AAL78168;ABM86190;ABW03694;EAW83044;EAW83045;EAW83046;EAW83047;NP_001014435;NP_005173;P43166;XP_005256192;XP_005256193;XP_006721330;XP_006721331 Hs.37014 2115806;2218328 CA7_4490;SHGC-60620 CA-VII;CAVII OTTHUMP00000174821;OTTHUMP00000242940;carbonate dehydratase VII;carbonic anhydrase 7;carbonic dehydratase VII APPROVED protein-coding ENSG00000168748 HGNC:1381 00263 114770 REVIEWED 1314979 CAB39 calcium binding protein 39 ENCODES a protein that exhibits kinase binding; protein kinase activator activity; protein serine/threonine kinase activator activity; INVOLVED IN intracellular signal transduction; peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation; PARTICIPATES IN adenosine monophosphate-activated protein kinase (AMPK) signaling pathway; mTOR signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene diol epoxide I; calcitriol; camptothecin 2 2 2 q37.1 225353992 225462181 + 231577557 231685790 + 230712842 230821075 + 1600678;1580863;6480464;6907045 15509864 10810093;12477932;14517248;14676191;14730349;14976552;15183188;15489334;15561763;16054041;16344560;17353931;18854318;19056867;19386264;19513107;19892943;20562859;21139048;21423148;21565611;21890473;21906983;22179124;22939629;23296203;23383273;24250222;24816145;8910387 51719 Q9Y376 AB073893;ABBA01050113;ABBA01050114;AC012507;AC084031;AF113536;AF134480;AF151824;AK000804;AK026335;AK292382;AK315692;AMYH02005957;AMYH02005958;AMYH02005959;BC020570;BG773506;CH471063;DA886579;DB455871;NM_001130849;NM_001130850;NM_016289 AAD34061;AAF14873;AAH20570;AAP97257;AAY14829;BAF85071;BAG38055;EAW70932;EAW70933;NP_001124321;NP_001124322;NP_057373;Q9Y376 Hs.603930 1339006;1645935;1653878;1678945;1705866;1734812;1855398;2110293;2158794;2169583;2170729;5024613 A002Q38;CAB39_9754;D2S1575E;D2S2340;G06903;NIB1194;RH46522;RH68250;RH69702;RH94102;SHGC-81194;WI-17440 CGI-66;FLJ22682;MO25 MO25alpha;OTTHUMP00000164293;OTTHUMP00000204438;OTTHUMP00000204439;calcium-binding protein 39 protein-coding ENSG00000135932 HGNC:20292 10091 612174 VALIDATED 1344567 CAAP1 caspase activity and apoptosis inhibitor 1 INVOLVED IN apoptotic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; ketamine (ortholog) 9 9 9 p21.2 26768847 26820992 - 26840683 26892826 - 26840685 26892828 - 6480464;8554872 12477932;14702039;15164053;15302935;15342556;15489334;16169070;17081983;17207965;19240061;19322201;20379614;21832049;21980415;23383273;8619474;9110174 79886 E5RFV1;E5RFW3;Q9H8G2 ABBA01065135;AF131768;AK023719;AK300739;AK301673;AL356133;AMYH02019342;AMYH02019343;BC014658;BC071953;BP228742;BP374752;CH471071;NM_001167575;NM_024828;XM_005251581 AAH14658;AAH71953;ADQ32016;BAB14655;BAG62409;BAG63146;EAW58576;EAW58577;EAW58578;EAW58579;NP_001161047;NP_079104;Q9H8G2;XP_005251638 Hs.178357 1771102;1848124;2121485;2175608 A007F33;D9S2086;WI-13926;WI-21850 C9orf82;CAAP;FLJ13657;RP11-337A23.1 OTTHUMP00000021163;conserved anti-apoptotic protein;hypothetical protein LOC79886;uncharacterized protein C9orf82 APPROVED protein-coding ENSG00000120159 HGNC:25834 12981 VALIDATED 1345299 CABP3 calcium binding protein 3 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. Study of the transcripts and genomic structure revealed that the 5' end of this gene is complementary and reverse to that of the CABP5 gene, and the sequence beyond the overlapping region is nearly identical to that of CABP5. Thus, these two genes encode the protein products with distinct N-terminal halves but identical C-terminal halves. [provided by RefSeq] q13.33 1580863 10625670;11785943 51476 AF170816;AF170817;AF170818;AF224511 AAF27810;AAF27811;Q9NZU6 protein-coding HGNC:15960 1314493 CABP4 calcium binding protein 4 This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 q13.2 64556021 64562452 + 67219886 67229245 + 67455347 67461774 + 1580863;6480464;7204681;7240710;8554872;8699517 20668007 10625670;12477932;1316906;15452577;15489334;16554811;16960802;19074807;19338761;20157620;20801516;22936811;23714322;8889548 57010 F5H3E8;P57796 ABBA01024032;AL712439;AMYH02024997;AP003419;AY039217;BC033167;BM665388;CH471076;NG_021211;NM_001300895;NM_001300896;NM_145200;XM_005274114;XM_005274115;XM_006718640 AAH33167;AAK83462;EAW74627;EAW74628;EAW74629;EAW74630;NP_001287824;NP_001287825;NP_660201;P57796;XP_005274171;XP_005274172;XP_006718703 Hs.143036 1733720;5016478;5037552 D11S2072;D8S2279;GDB:434012 CSNB2B OTTHUMP00000237645;OTTHUMP00000237671;calcium-binding protein 4 APPROVED protein-coding HGNC:1386 12344 608965;610427 REVIEWED 1313589 CABLES1 Cdk5 and Abl enzyme substrate 1 This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 18 18 18 q11.2 17551596 17656291 + 20714528 20840434 + 23134564 23260470 + 737633;1580863;6480464 12477932 10873625;10896159;11527406;11585773;11706030;11733001;11955625;12612882;13679449;14637168;14702039;14729625;15174051;15489334;16177568;16177791;16964243;17101133;17982127;18059193;18391951;19247474;19266077;20189936;20546612;20694014;20881960;21890215;22139419;23333304;23455922;23505323;23563607;23602568;24026423 91768 A7K6Y5;J3QRY5;Q8TDN4;V9GYB4 ABBA01022639;ABBA01022640;ABBA01022641;AC011731;AC105247;AF348525;AK025627;AK093243;AK296407;AK304880;AMYH02034412;BC004124;BC015686;BC037218;CH471088;EF028204;EF444961;NM_001100619;NM_001256438;NM_138375;NR_023359;XM_006722575;XM_006722576 AAH04124;AAH37218;AAL83906;ABL77400;ACA05957;BAC04107;BAG59072;BAG65617;EAX01147;EAX01148;NP_001094089;NP_001243367;NP_612384;Q8TDN4;XP_006722638;XP_006722639 Hs.11108 1774728;2136073 A004P17;UniSTS:37732 CABL1;FLJ35924;HsT2563;IK3-1 CABLES;CDK5 and ABL1 enzyme substrate 1;interactor with CDK3 1 APPROVED protein-coding ENSG00000134508 HGNC:25097 16461 609194 VALIDATED 1315034 CA9 carbonic anhydrase IX Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014] 9 9 9 p13.3 35607463 35614702 + 35673915 35681156 + 35673918 35681159 + 1580863;2293190;2293194;2293199;2293200;2293204;2293196;2293198;2293201;2298945;2298947;2298946;2293191;2293193;2293195;2293197;6480464;6484113;8554872 11506497;12687273;12883698;12966427;14520462;15069539;16714773;17233814;17245699;17280655;17308115;17429140;17452774;18464292;18483361 10709109;11083462;11303978;11676494;11680594;11705854;12137853;12154057;12477932;12560438;12576453;12615703;12676895;12854129;12865916;1312272;14567991;14578124;14654550;15184875;15199132;15240538;15340161;15489334;15500003;15556624;15585626;15671533;15809767;15833446;15837325;15847702;15849821;15856466;15935515;16168127;16236267;16243791;16288478;16416108;16428489;16533775;16944313;16954440;16964400;17200340;17255364;17367605;17390110;17452775;17536770;17652430;17674038;17706406;17852557;17855694;17906661;18026188;18060036;18173856;18290322;18336315;18336316;18440050;18482982;18676750;18695901;18703501;18728663;18841153;18941400;18976937;19008051;19017360;19022520;19074859;19165203;19204726;19291313;19347577;19367501;19458084;19469910;19473055;19523858;19539328;19540352;19564335;19619339;19805286;19808899;19861127;19913121;19950233;20038959;20127031;20170095;20224781;20358226;20398423;20423227;20461082;20514415;20521252;20526721;20628086;20819778;20822935;20840814;20875751;20964835;20978319;21040473;21088149;21090098;21209841;21223596;21249485;21281785;21302028;21306648;21363891;21442770;21454639;21519917;21547579;21664839;21691815;21694464;21745383;21761968;21870331;21910893;21959110;21966417;22037869;22133596;22147747;22170054;22175902;22199327;22289741;22366443;22367930;22430125;22436629;22465027;22484976;22486898;22699808;22843905;22918393;22939629;22976806;23074198;23098453;23141780;23181366;23208505;23226406;23226559;23263636;23291973;23299542;23372804;23391777;23503645;23512428;23656776;23802595;23860929;23910904;23957700;24008660;24068505;24146381;24146382;24146383;24217923;24349364;24436269;24471939;24878360;24926090;8084592;8486430;8661007;9024293;9524195;9770531;9787087 768 Q16790 ABBA01064988;AI023541;AJ010588;AL133410;AL357874;AL554705;AMYH02019463;BC014950;CH471071;EF122496;HC729665;NM_001216;X66839;XM_006716866;XM_006716867;XM_006716868;XM_006716869;XM_006716870;XR_428428;XR_428429;Z54349 AAH14950;ABL67717;ABM83134;ABM86330;CAA47315;CAB82444;CBL94025;EAW58359;NP_001207;Q16790;XP_006716929;XP_006716930;XP_006716931;XP_006716932;XP_006716933 Hs.63287 2132345;2138117 RH66792;STS-X66839 CA-IX;CAIX;MN;P54/58N;pMW1 OTTHUMP00000022773;RCC-associated antigen G250;RCC-associated protein G250;carbonate dehydratase IX;carbonic anhydrase 9;carbonic dehydratase;membrane antigen MN;renal cell carcinoma-associated antigen G250 APPROVED protein-coding ENSG00000107159 HGNC:1383 04417 603179 REVIEWED 1345026 CABLES2 Cdk5 and Abl enzyme substrate 2 ENCODES a protein that exhibits cyclin-dependent protein serine/threonine kinase regulator activity (inferred); INVOLVED IN cell division (inferred); regulation of cell cycle (inferred); regulation of cell division (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; benzo[a]pyrene 20 20 20 q13.33 57698960 57717613 - 60963686 60982339 - 62388630 62407283 - 737633;1580863;6480464 12477932 11780052;11955625;14637168;15489334;20056645;23455922;23535732;23602568 81928 H0Y5H2;Q9BTV7 ABBA01040087;AI066606;AL121832;AMYH02037427;AMYH02037428;BC003122;BC011196;BU166894;CA420818;CB960872;CH471077;NM_031215 AAH03122;EAW75364;EAW75365;EAW75366;NP_112492;Q9BTV7 Hs.301040 1650878;1669353;2110999 D20S141E;RH12076;RH64856 C20orf150;dJ908M14.2;ik3-2 CDK5 and ABL1 enzyme substrate 2;OTTHUMP00000031481;OTTHUMP00000031482;interactor with CDK3 2 protein-coding ENSG00000149679 HGNC:16143 12994 VALIDATED 732324 CABIN1 calcineurin binding protein 1 Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011] 22 22 22 q11.23 8207658 8374995 + 24407642 24574596 + 24011192 24178628 + 734676;6480464;8554872 8896451 10531067;10591208;10825153;10931822;10933397;11714752;12477932;12700764;14623296;14718166;15063762;15671033;15683985;15902271;17172641;17531200;18029348;19505873;19668210;19717561;19817957;19913121;20075944;20379614;20628086;21139048;21414300;21807893;22195966;22275266;22401310;23624525;23939952;23974956;24163370;9150134;9205841;9655484 23523 B5MEB3;C9J068;C9JT60;Q9Y6J0 AB002328;ABBA01055126;ABBA01055127;ABBA01055128;ABBA01055129;ABBA01055130;AC253536;AF072441;AK307522;AL390166;AL703593;AP000351;AP000352;AP000353;BC013099;BC021929;BC028969;BC041659;BC054497;CH471095;NM_001199281;NM_001201429;NM_012295;XM_005261415;XM_005261416;XM_005261417;XM_005261419;XM_005261420;XM_006724179;XM_006724180;XM_006724181;XM_006724182;XM_006724183;XM_006724184;XR_430404;Z92546 AAD40846;AAH21929;AAH28969;AAH41659;AAH54497;BAA20788;CAB62954;CAB99097;EAW59637;EAW59638;EAW59639;EAW59640;NP_001186210;NP_001188358;NP_036427;Q9Y6J0;XP_005261472;XP_005261473;XP_005261474;XP_005261476;XP_005261477;XP_006724242;XP_006724243;XP_006724244;XP_006724245;XP_006724246;XP_006724247 Hs.517478 1335420;1646075;1646202;1696902;1697454;1733266;1759157;1759941;1772850;2121477;2218330 CABIN1_4493;D22S1174;D22S345;D22S613;D22S651;G18177;RH101917;RH102228;SHGC-150952;SHGC-170345;STS-R43261 KIAA0330;PPP3IN;cain OTTHUMP00000198540;OTTHUMP00000198541;OTTHUMP00000208363;calcineurin binding protein cabin 1;calcineurin inhibitor;calcineurin-binding protein cabin-1 APPROVED protein-coding ENSG00000099991 HGNC:24187 10369 604251 REVIEWED 1317691 CABP5 calcium binding protein 5 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009] 19 19 19 q13.33 45398355 45412448 - 48532640 48547311 - 48029383 48044054 - 1580863;6480464;8554872 10625670;11108966;11785943;12477932;15489334;18029348;19338761;24599957;7566098;8889548 56344 Q9NP86 AA318398;ABBA01033017;ABBA01033018;AC010330;AC010458;AF169159;AF170812;AF170813;AF170814;AF170815;AMYH02036280;AMYH02036281;AMYH02036282;BC126133;BC126135;BQ185108;BU734136;CH471177;NM_019855 AAF25793;AAF25798;AAI26134;AAI26136;ADR82830;EAW52310;NP_062829;Q9NP86 Hs.117694 2149490 SHGC-30732 CABP3 Calcium-binding protein 3;calcium-binding protein 5 APPROVED protein-coding HGNC:13714 09537 607315 REVIEWED 1348796 CABP7 calcium binding protein 7 ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN trans-Golgi network membrane; INTERACTS WITH 8-bromo-3',5'-cyclic AMP; aflatoxin B1; trichostatin A 22 22 22 q12.2 13916071 13927549 + 30116344 30127822 + 29720090 29731833 + 737633;6480464 12477932 11785943;15489334;19338761;22989873;7566098 164633 Q86V35 AA351919;ABBA01055274;ABBA01055275;ABBA01055276;ABBA01055277;AC004882;AMYH02038207;BC051805;BX488512;CH471095;NM_182527;XM_006724161 AAH51805;ADR82654;EAW59834;EAW59835;NP_872333;Q86V35;XP_006724224 Hs.643608 1678875;1682846;1772798;1850863;2174924 A007D33;RH27831;RH45735;STS-L11353;WI-12398 CALN2;MGC57793 OTTHUMP00000199672;calcium-binding protein 7;calneuron 2;calneuron II;calneuron-2 protein-coding ENSG00000100314 HGNC:20834 12995 VALIDATED 1344745 CACD central areolar choroidal dystrophy ASSOCIATED WITH Choroidal dystrophy central areolar (inferred) 7240710 8733141;9733038 772 HGNC:1387 215500 1348224 CABP2 calcium binding protein 2 This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction.[provided by RefSeq, Nov 2010] 11 11 11 q13.1 64620821 64625302 - 67286418 67291085 - 67518947 67523614 - 1580863;6480464;7204681;8699517;7240710;8554872 20668007 10625670;11108966;11415439;12477932;19338761;21697133;22981119 51475 F1T0K2;F5H458;Q9NPB3 AB593136;ABBA01024030;AF169154;AF170811;AMYH02024997;AP001184;BC018476;CH471076;NG_032982;NM_016366;XM_005274046 AAF25788;AAF26283;AAI52747;BAJ84076;EAW74645;EAW74646;EAW74647;NP_057450;Q9NPB3;XP_005274103 Hs.278984 DFNB93 OTTHUMP00000237584;OTTHUMP00000238412;calcium-binding protein 2 APPROVED protein-coding ENSG00000167791 HGNC:1385 09535 607314;614899 REVIEWED 1345908 CABYRP1 calcium binding tyrosine-(Y)-phosphorylation regulated pseudogene 1 3 3 3 p21.1 54048406 54049611 - 54081687 54082846 - 54047660 54048819 - 266954 ABBA01024468;AC115282;AMYH02006832;NG_002394 1699816 RH103515 CABYRP;calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2) pseudogene;calcium-binding tyrosine-(y)-phosphorylation regulated (fibrousheathin 2) pseudogene APPROVED pseudo HGNC:31902 INFERRED 1604567 CABS1 calcium-binding protein, spermatid-specific 1 ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN spermatogenesis (inferred); FOUND IN motile cilium (ortholog); INTERACTS WITH aflatoxin B1; ammonium chloride (ortholog); bisphenol A (ortholog) 4 4 4 q13.3 68558418 68560580 + 71200671 71202833 + 70334954 70337116 + 6480464 12477932;14702039;16344560;17207965;19208547;19271754 85438 Q96KC9 ABBA01022926;AC106884;AF380838;AK057459;AK315022;AMYH02009420;BC034492;BC046111;BX098854;CH471057;DB027445;HC007196;HC044633;NM_033122 AAH46111;AAK57455;ADQ33118;BAB71497;BAG37512;CBH19403;CBH30646;EAX05615;EAX05616;NP_149113;Q96KC9 Hs.120316 1697370 RH102183 C4orf35;CLPH;FLJ32897;NYD-SP26 OTTHUMP00000159771;calcium-binding and spermatid-specific protein 1;calcium-binding protein, sperm-specific 1;casein-like phosphoprotein;testis development protein NYD-SP26 APPROVED protein-coding ENSG00000145309 HGNC:30710 14865 VALIDATED 731282 CABP1 calcium binding protein 1 Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. [provided by RefSeq, Jul 2012] 12 12 12 q24.31 120712715 120739394 + 121078422 121105129 + 120640619 120667324 + 1580863;6480464;7204681;8554872 20668007 10625670;11108966;11865310;12032348;12477932;14570872;14685260;14702039;15140941;15980432;16147998;16470652;17960496;19008222;19338761;20195357;21134641;21383011;21608059;22693956;22996592;24599957;8889548;9920909 9478 C9J8G2;Q9NZU7 ABBA01020131;ABBA01020132;AC069234;AF169148;AF169149;AK127203;AL533429;AMYH02027379;BC015006;BC030201;BM716422;BQ188859;CH471054;NG_029321;NM_001033677;NM_004276;NM_031205;XM_005253994 AAF25782;AAF25783;AAH30201;ABM86439;ABW03794;EAW98209;EAW98210;EAW98211;NP_001028849;NP_004267;NP_112482;Q9NZU7;XP_005254051 Hs.458482 1698862;2130496 D12S183;RH102996 HCALB_BR CALBRAIN;OTTHUMP00000210617;OTTHUMP00000210618;OTTHUMP00000210619;OTTHUMP00000210620;calcium binding protein 5;calcium-binding protein 1;caldendrin APPROVED protein-coding ENSG00000157782 HGNC:1384 605563 REVIEWED 1605969 CACHD1 cache domain containing 1 INVOLVED IN calcium ion transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); copper atom; copper(0) 1 1 1 p31.3 63227656 63449867 + 64936476 65158741 + 64470793 64693058 + 6480464 10997877;12421765;12477932;14702039;20379614;20467438;21139048;22268729 57685 Q5VU97 AB046793;ABBA01074559;ABBA01074560;ABBA01074561;ABBA01074562;AC099678;AK022571;AK024256;AK131297;AK299361;AL355515;AL590405;AL833000;AMYH02001166;AMYH02001167;AMYH02001168;AMYH02001169;AMYH02001170;BC039301;BX537603;CH471059;CX163220;NM_001293274;NM_020925;XM_006710793 AAH39301;BAB13399;BAB14105;BAB14860;BAG61356;CAD97793;CAH56312;EAX06551;NP_001280203;NP_065976;Q5VU97;XP_006710856 Hs.443891 1660970;1691146;1698214;1707692;1708870;1718325;1718541;1753641;1769978;1778726;1781386;1781804;2150786;2160108;2180969;5092892;5121549 A009B41;D1S3164;D1S3724;G16067;G32395;G58143;RH102643;RH122934;RH91887;SHGC-106872;SHGC-107550;SHGC-156086;SHGC-74907;SHGC-74939;SHGC-74941;SHGC-82019;SHGC-83932 KIAA1573;RP4-655E10.1 OTTHUMP00000010675;VWFA and cache domain-containing protein 1;cache domain-containing protein 1;von Willebrand factor type A and cache domain containing 1 protein-coding ENSG00000158966 HGNC:29314 13874 VALIDATED 1349000 CABYR calcium binding tyrosine-(Y)-phosphorylation regulated To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 18 18 18 q11.2 18535262 18557874 + 21718920 21741564 + 24138956 24161600 + 1580863;6480464 11730911;11820818;12477932;12509440;15489334;15752768;16139264;16344560;17207965;17317841;18029348;18421703;20379614;20954286;21240291;21274509;22285430;22990118;7849610;8125298 26256 G5E9E5;J3KRI0;J3KT09;J3KTE8;J3QLW5;J3QQK7;O75952 ABBA01022619;AC090772;AF088868;AF295037;AF295038;AF295039;AF329634;AK225858;AK301889;AK313243;AMYH02034430;AY007205;BC011996;CH471088;DB055487;HM594163;HM594164;HM594165;HM594166;HM594167;HM594168;HM594169;HQ659768;HY051562;KF456354;NM_012189;NM_138643;NM_138644;NM_153768;NM_153769;NM_153770;XM_005258245;XM_005258246;XM_005258247 AAC35373;AAG01891;AAG17889;AAG17890;AAG17891;AAH11996;AAL56051;ADK33596;ADK33597;ADK33598;ADK33599;ADK33600;ADK33601;ADQ32700;ADX30691;BAG36054;BAG63320;EAX01174;EAX01175;EAX01176;EAX01177;EAX01178;EAX01179;NP_036321;NP_619584;NP_619585;NP_722452;NP_722453;NP_722454;O75952;XP_005258302;XP_005258303;XP_005258304 Hs.511983 1689065;1699816 RH103515;RH79977 CABYRc/d;CBP86;CT88;FSP-2;FSP2;MGC9117 CABYRa;CABYRc;CABYRe;OTTHUMP00000035470;OTTHUMP00000162776;OTTHUMP00000162777;OTTHUMP00000162778;calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2);calcium-binding protein 86;calcium-binding tyrosine phosphorylation-regulated protein;calcium-binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2);cancer/testis antigen 88;fibrousheathin 2;fibrousheathin II;fibrousheathin-2;testis-specific calcium-binding protein CBP86 APPROVED protein-coding ENSG00000154040 HGNC:15569 10806 612135 REVIEWED 6481192 CACNA1C-AS2 CACNA1C antisense RNA 2 p13.33 100874235 AC007618;AI219155;AI797712;NR_046579 Hs.667644 APPROVED ncrna HGNC:40118 VALIDATED 6481187 CACNA1C-AS4 CACNA1C antisense RNA 4 12 12 2329703 2332647 - 2220537 2223481 - 16344560 100874234 ABBA01048809;AC005344;AMYH02025883;BI830379;DB094045;HG504394;NR_046578 Hs.372570 RP1-53O8.1 APPROVED ncrna ENSG00000256025 HGNC:40116 VALIDATED 6480960 CACNA1C-IT1 CACNA1C intronic transcript 1 (non-protein coding) p13.33 100874368 AC005342 ncrna HGNC:41312 6483983 CACNA1C-AS1 CACNA1C antisense RNA 1 ASSOCIATED WITH Arrhythmias, Cardiac (inferred); Brugada Syndrome (inferred); Cardiac Complexes, Premature (inferred) 12 12 2785167 2800323 - 2676001 2691157 - 8554872 14702039;16344560 100652846 ABBA01048802;ABBA01048803;ABBA01048804;AC007618;AK093746;AMYH02025884;AMYH02025885;DB156888;HG504398;HG504400;KF455578;NG_008801;NR_045725 Hs.683896 FLJ36427;RP11-885B4.3 APPROVED ncrna ENSG00000246627 HGNC:40119 VALIDATED 6480963 CACNA1C-IT2 CACNA1C intronic transcript 2 (non-protein coding) p13.33 100874369 AC005342;AI810102;NR_046768 Hs.208723 ncrna HGNC:41313 VALIDATED 1322993 CACFD1 calcium channel flower domain containing 1 ENCODES a protein that exhibits calcium channel activity (inferred); INVOLVED IN calcium ion transmembrane transport (inferred); synaptic vesicle endocytosis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of synaptic vesicle membrane (inferred); INTERACTS WITH cadmium dichloride (ortholog); clofibrate (ortholog) 9 9 9 q34 106875680 106886533 + 136325087 136335909 + 133459965 133470787 + 6480464;8554872 12477932;12975309;14702039;15164053;15489334;16303743;16344560;18940312;19737521;21906983 11094 F6TGH8;Q9UGQ2 AA436195;ABBA01032457;AJ011373;AK074852;AK075416;AK075548;AK296343;AK298820;AK304524;AK311325;AL137319;AL593848;AMYH02021832;AY358452;BC030558;CH471090;CQ782808;CS051223;CS051397;DA699497;DB165724;NM_001135775;NM_001242369;NM_001242370;NM_017586 AAH30558;AAQ88817;BAC11245;BAC11606;BAC11691;BAH12324;BAH12877;BAH14205;CAB66156;CAF86035;CAI72107;CAI72193;EAW88089;EAW88090;NP_001129247;NP_001229298;NP_001229299;NP_060056;Q9UGQ2 Hs.62003 1673218;2112884;2216988 ADAMTS13_3006;D9S2135;STS-AA040591 C9orf7;D9S2135 OTTHUMP00000022493;OTTHUMP00000022494;OTTHUMP00000022495;calcium channel flower domain-containing protein 1;calcium channel flower homolog;flower APPROVED protein-coding ENSG00000160325 HGNC:1365 12974 613104 VALIDATED 6480961 CACNA1C-IT3 CACNA1C intronic transcript 3 (non-protein coding) 12 12 2378942 2397911 + 2269776 2288745 + 100874370 AA421533;ABBA01048808;AC005293;AC005344;AMYH02025883;HG504395;NR_046769 Hs.653548 RP5-977L1.1 ncrna HGNC:41314 VALIDATED 735950 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010] 19 19 19 p13 13207639 13507772 - 13317256 13617274 - 13206442 13506460 - 1358570;734669;1358446;2311105;6480464;6907045;7240710;7204688;8554872;8699517 10945665;11342703;14530926;16868246;21746798 10049321;10212211;10607897;10737800;10753886;10987655;11061267;11176968;11179022;11320173;11723274;11742003;11803518;11804332;11843866;11865310;11960817;11971066;12049805;12056940;12235360;12451115;12461694;12527722;12542511;12545428;12676347;12707077;12736095;12756131;1370480;14534930;14570872;14592859;14681882;14756671;15003170;15026160;15026782;15057824;15210532;15223312;15240985;15254089;15293273;15362569;15448138;15452324;15474358;15504896;15504897;15545010;15710862;15728831;15743764;15795222;15826995;15827025;15953418;15985579;16043807;16147992;16186543;16306128;16325861;16373336;16382099;16389595;16508934;16595610;17020933;17119788;17289272;17292920;17418573;17438119;17573560;17588611;17654512;17672918;18056581;18162541;18279427;18285829;18313928;18338196;18400034;18413478;18437043;18478327;18498393;18513263;18541804;18581134;18602318;18606230;18644040;18670797;18755274;18758887;18940563;18973067;18976783;19007941;19145126;19182766;19189122;19235102;19242091;19259763;19336002;19429006;19438926;19486177;19520699;19527141;19586927;19624685;19633872;19811514;19864665;20043227;20043243;20069235;20071244;20080591;20091047;20129625;20156848;20301317;20301319;20301562;20301674;20379614;20484531;20495360;20631222;20837964;21078624;21183743;21186355;21440913;21550405;21696515;21768184;21788606;21827907;21827920;21906983;21965686;22074995;22190617;22549042;22942164;22969264;23103419;23255606;23344743;23407676;23430985;23441182;23505410;23726906;23827678;24046065;24108129;24275721;24329154;7823133;8220421;8525433;8692999;8825650;8898206;8988170;9009193;9238069;9259275;9302278;9303303;9311738;9442082;9600739 773 B5TYJ1;I3L2V5;I3L391;K7EIF8;K7EKF7;K7EQ95;O00555;Q9NS89 AB035726;AB035727;ABBA01029742;ABBA01029743;ABBA01029744;ABBA01029745;ABBA01029746;ABBA01029747;ABBA01029748;ABBA01029749;ABBA01029750;ABBA01029751;AC005305;AC005513;AC008540;AC011446;AC022436;AC026805;AC093062;AC098781;AC124224;AF004883;AF004884;AF100774;AF144098;AF152345;AMYH02035570;AMYH02035571;AMYH02035572;AMYH02035573;AMYH02035574;AMYH02035575;AMYH02035576;AMYH02035577;AMYH02035578;AMYH02035579;AMYH02035580;AMYH02035581;AMYH02035582;AMYH02035583;AMYH02035584;BQ340521;CH471106;FJ040507;KF456505;NG_011569;NM_000068;NM_001127221;NM_001127222;NM_001174080;NM_023035;S76537;U06702;U79663;U79664;U79665;U79666;U79667;U79668;X99897 AAB33068;AAB49674;AAB49675;AAB49676;AAB49677;AAB49678;AAB61612;AAB61613;AAB64179;AAC26839;AAC77460;AAD38386;AAF03935;ACH89974;BAA94765;BAA94766;CAA68172;EAW84361;EAW84362;EAW84363;EAW84364;EAW84365;EAW84366;NP_000059;NP_001120693;NP_001120694;NP_001167551;NP_075461;O00555 Hs.501632 1338443;1710728;1721999;1728735;1728737;1767776;2112236;5019597;5019599;5019601;5019603;5019605;5092486;5092488;5092490;5092492;5092494;5092496;5092498;5092500;5092502;5092504;5092506;5092508;5092510;5092512;5092514;5092516;5092518;5092520;5092522;5092524;5092528;5092534;5092538;5092540;5092542;5092544;5092546;5092548;5092550;5092552;5092554;5092556;5092558;5092560;5092562;5092564;5092566;5092568;5092570;5092572;5092574 D19S1150;D19S564;G49217;G49219;G54374;G54375;G54376;G54377;G54378;G54379;G54380;G54381;G54382;G54383;G54384;G54385;G54386;G54387;G54388;G54389;G54390;G54391;G54392;G54393;G54394;G54395;G54397;G54398;G54401;G54403;G54404;G54405;G54406;G54407;G54408;G54409;G54410;G54411;G54412;G54413;G54414;G54415;G54416;G54417;G54418;G54419;G54420;G54422;G54423;G54424;G59885;RH48188;SHGC-83991 APCA;BI;CACNL1A4;CAV2.1;EA2;FHM;HPCA;MHP;MHP1;SCA6 brain calcium channel 1;brain calcium channel I;calcium channel, L type, alpha-1 polypeptide;calcium channel, voltage-dependent, alpha 1a subunit;voltage-dependent P/Q-type calcium channel subunit alpha-1A;voltage-gated calcium channel subunit alpha Cav2.1 APPROVED protein-coding ENSG00000141837 HGNC:1388 03004 108500;141500;183086;601011 REVIEWED 1347795 CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 9 9 9 q34 59 5239 - 140772241 141019076 + 137877789 138124624 + 1580151;1580863;1626313;1626312;6480464;6907045;7204688;8554872 11353727;16289869;17567797;21746798 10455105;11130074;11395521;11438518;12018859;12161429;12177192;12414690;12435810;12477932;12665800;1321501;14602720;14684825;15166237;15607937;15728831;15953418;16382099;16627564;16857708;17081983;18958281;19065143;20195357;20379614;20489179;21057379;21166801;21906983;22491326;22590648;22613715;24566975;8684604;8750830;8825650;9030575;9238069 774 B1AQK6;B1AQK7;E9PDR3;F6RH32;H0Y7I8;Q00975;Q9HAT3;Q9HAT6;Q9HBH2 AB209467;ABBA01022792;ABBA01022793;ABBA01022794;ABBA01022795;ABBA01022796;AF237470;AF238295;AF238296;AF245659;AF245660;AF302780;AF302782;AL591424;AL772363;AMYH02021951;AMYH02021952;AY429522;AY429523;BC033060;CH471090;CS184988;M94172;M94173;NM_000718;NM_001243812;U76666 AAA51897;AAA51898;AAC51138;AAG13642;AAG13643;AAG13644;AAG13645;AAG13646;AAG13647;AAG13648;AAG13650;AAG14396;AAG14397;AAG14398;BAD92704;CAJ41866;EAW88415;EAW88416;EAW88417;EAW88418;NP_000709;NP_001230741;Q00975 Hs.495522 1337682;1647218;1654731;1732015;1743007;1758309;1787046;1795228;1848645;2111021;2164748;5113224 A004Y39;CACNA1B_73;D9S1090;D9S2168;D9S218E;D9S325;GDB:229346;RH69203;RH79907;SHGC-148023;SHGC-153882;SHGC-32482 BIII;CACNL1A5;CACNN;Cav2.2 Cav2.2 voltage-gated Ca2+ channel;OTTHUMP00000022714;OTTHUMP00000022715;OTTHUMP00000022716;OTTHUMP00000022718;brain calcium channel III;calcium channel alpha12.2 subunit;calcium channel, L type, alpha-1 polypeptide;calcium channel, N type;calcium channel, voltage-dependent, L type, alpha 1B subunit;calcium channel, voltage-dependent, alpha 1B subunit, N type;voltage-dependent N-type calcium channel subunit alpha-1B;voltage-gated calcium channel alpha subunit Cav2.2;voltage-gated calcium channel subunit alpha Cav2.2 APPROVED protein-coding ENSG00000148408 HGNC:1389 03005 601012 REVIEWED 733702 CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] 1 1 1 q25.3 154559815 154877831 + 181452447 181775920 + 181483550 181806784 + 1299845;734670;1580863;6480464;6907045;7204688;8554872 11735114;21746798;8388125 11159396;11179973;11719851;11903132;12202369;12401453;12477932;12706458;14702039;15258581;15342556;15845089;16382099;16543726;16855219;17050807;17189400;17660294;17720895;17727731;17934712;18037383;18676988;20026913;20379614;20424473;21482359;21691059;21906983;22178872;22427875;22633975;22846999;23382691;23870195;23940630;7536609;8071363;8358434;8825650;9238069;9656471;9753159;9776767;9799129 777 E9PIE8;F8W760;F8W8A2;F8W9Z1;J3KP11;Q15878;Q59FG1 AA349993;AB209499;ABBA01027775;ABBA01027776;ABBA01027777;ABBA01027778;AF152379;AF223391;AJ276502;AK096563;AK309070;AL160059;AL161734;AL356500;AL359270;AL590998;AMYH02002260;AW452628;BC037800;BE504178;BI914369;BP230397;CD580303;CH471067;KF455083;KF455110;KF510705;L27745;L29384;L29385;NM_000721;NM_001205293;NM_001205294;R11722 AAA59204;AAA59205;AAA72125;AAD38389;AAF37687;AAF37688;AAI72376;BAD92736;CAB81554;EAW91103;EAW91104;EAW91105;EAW91106;EAW91107;EAW91108;EAW91109;EAW91110;NP_000712;NP_001192222;NP_001192223;Q15878 Hs.437444 1683785;1694742;1713093;1728929;1778212;1781674;1846801;2142988;2150288;2158257;2168216 Cacna1e;G19134;G43571;HSC1IC052;RH120334;RH71450;RH80638;SHGC-154997;SHGC-75979;SHGC-76011;SHGC-76012 BII;CACH6;CACNL1A6;Cav2.3 OTTHUMP00000035416;OTTHUMP00000035417;OTTHUMP00000035418;OTTHUMP00000235985;brain calcium channel II;calcium channel, L type, alpha-1 polypeptide, isoform 6;calcium channel, R type, alpha-1 polypeptide, isoform 6;calcium channel, voltage-dependent, alpha 1E subunit;calcium channel, voltage-dependent, l type, alpha 1e subunit;voltage-dependent R-type calcium channel subunit alpha-1E;voltage-dependent calcium channel alpha 1E subunit;voltage-gated calcium channel alpha 1E subunit;voltage-gated calcium channel alpha subunit Cav2.3;voltage-gated calcium channel subunit alpha Cav2.3 APPROVED protein-coding ENSG00000198216 HGNC:1392 03006 601013 REVIEWED 735457 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 3 3 3 p14.3 53496179 53813773 + 53529076 53847179 + 53495049 53813152 + 704382;1300292;1580863;2311105;6480464;6906919;6907045;6906922;7204688;8699517;7240710;8554872 10929716;12591156;16026470;16868246;18947822;21746798 10468580;11160515;11285265;11292657;11424233;11441182;11581302;1309651;1309948;1324226;14981074;15939813;1664412;16921373;16973824;17081983;17110593;17257825;18482979;1849233;19004828;19225208;19240061;19339512;19351867;19885716;20363327;20379614;20424473;21131953;21352396;21737448;21859974;21901158;21998309;21998310;23229155;23396134;23591884;23791743;23913001;23913004;23924992;23973784;24144296;24703308;24849370;7557998;8738134 776 B7Z269;H7C4S8;Q01668;Q59GD8 AB209171;ABBA01024471;ABBA01024472;AC005905;AC012467;AC024149;AC132810;AF055575;AK294397;AK294585;AMYH02006830;AMYH02006831;AW008794;CH471055;D43747;EU363339;M76558;M83566;NG_032999;NM_000720;NM_001128839;NM_001128840;XM_005265448;XM_006713325 AAA35629;AAA58402;AAD08651;ABY66526;BAA07804;BAD92408;BAG57776;BAH11755;EAW65286;EAW65287;EAW65288;EAW65289;EAW65290;EAW65291;EAW65292;EAW65293;EAW65294;EAW65295;NP_000711;NP_001122311;NP_001122312;Q01668;XP_005265505;XP_006713388 Hs.476358 1336929;1672212;1672973;1700824;1743083;1745405;1755707;1755725;1766443;1779400;1784696;2120484;2138063;2174533;5093216;5094630;5125449;7184262;7184264 A009J32;D3S1578;D3S3101;D3S3905;G32588;GDB:251823;GDB:606284;PMC18246P1;RH104037;SHGC-142550;SHGC-142572;SHGC-149368;SHGC-149773;SHGC-153389;SHGC-30332;SHGC-32456;SHGC-77009 CACH3;CACN4;CACNL1A2;CCHL1A2;Cav1.3;SANDD OTTHUMP00000212730;OTTHUMP00000212731;OTTHUMP00000212732;OTTHUMP00000212733;PASNA;calcium channel, L type, alpha-1 polypeptide, isoform 2;calcium channel, neuroendocrine/brain-type, alpha 1 subunit;voltage-dependent L-type calcium channel subunit alpha-1D;voltage-gated calcium channel alpha 1 subunit;voltage-gated calcium channel alpha subunit Cav1.3;voltage-gated calcium channel subunit alpha Cav1.3 protein-coding ENSG00000157388 HGNC:1391 00247 114206;614896;615474 REVIEWED 6770493 CACNA1G-AS1 CACNA1G antisense RNA 1 17 17 17 q21.33 45094930 45100831 - 48633568 48639469 - 50556207 50562108 - 12477932;8889548 253962 ABBA01041240;AC021491;AMYH02033595;BC041476;BU742796;H13333;NG_032024;NR_038439 Hs.558704 2145484 WI-22304 APPROVED ncrna ENSG00000250107 HGNC:27377 VALIDATED 10268 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] 12 12 12 p13.3 3770102 4421688 + 2079952 2807115 + 1970786 2697949 + 1580173;1580863;2311105;6480464;6907045;7204688;7240708;7240710;8554872;8699517 15863612;16868246;21746798;23091085 10022083;11206130;11438518;11438519;11461190;11576544;11741969;12130699;12163037;12166659;12176756;12477932;12593842;12832067;12962146;1316612;1330882;1335957;14140941;14702039;14722109;14981074;15140941;15141227;15170217;15299022;15339916;15454078;15583004;15671035;15728831;15749491;15845581;15916803;15953418;15980164;15980432;16020652;16157588;16285952;16299511;16319140;16338416;16382099;16483597;1650913;1653763;16610939;16648185;16820363;17071743;17110593;17173968;17224476;17593353;17916557;17942635;17950697;18174367;18250309;18317468;18359894;18535142;18535201;18536931;18596041;18603601;18618671;18675806;18711365;18836301;18927079;19065143;19095005;19106618;19205682;19215628;19225208;19265197;19279214;19343720;19351867;19388002;19492014;19520970;19620129;19621016;19625771;19687230;19717733;19781653;19913121;19916019;19952088;20031608;20066046;20098439;20169111;20201926;20226536;20301577;20301690;20351715;20351721;20371314;20379614;20424473;20628086;20636642;20638048;20677014;20679588;20719785;20723887;20817017;20819988;20924598;20953164;21042317;21057379;21078228;21098446;21134641;21145461;21186355;21282112;21292451;21352396;21395576;21464227;21487241;21519340;21521762;21664226;21665954;21676128;21685391;21712653;2173707;21767209;21788606;21810465;21926972;21926974;21931320;21998324;22012475;22085483;22100296;22142827;22261054;22464935;22490625;22590648;22614287;22614292;22647524;22665259;22688191;22705413;22914618;22957138;22985546;22990809;23222517;23406546;23437284;23437964;23453885;23557075;23575362;23677916;23680436;23728906;23733657;23771339;23804206;23860750;23880959;23900723;23948586;23948887;23973784;23974872;24026422;24108394;24240197;24275578;24280982;24315451;24355530;24365142;7737988;7959794;8099908;8392192;8612821;8619474;8664319;9013606;9087614;9110174;9247274;9607315;9668070 775 E9PDI6;F5GY28;F5H0X0;F5H522;F5H638;Q13936;Q59GU3;Q5V9X9 AB209016;ABBA01048802;ABBA01048803;ABBA01048804;ABBA01048805;ABBA01048806;ABBA01048807;ABBA01048808;ABBA01048809;ABBA01048810;ABBA01048811;ABBA01048812;AC005293;AC005342;AC005344;AC005414;AC005866;AC006051;AC007618;AF070589;AF465484;AJ224873;AJ536834;AJ537510;AK092125;AK302698;AK308652;AK309111;AMYH02025880;AMYH02025881;AMYH02025882;AMYH02025883;AMYH02025884;AMYH02025885;AY129012;AY562395;AY562396;AY604867;AY830711;AY830712;AY830713;BC093695;BC146846;CH471116;KF455573;KF455574;KF455578;L04568;L29529;L29534;L29536;M57971;M57972;M61130;M91370;M92269;NG_008801;NM_000719;NM_001129827;NM_001129829;NM_001129830;NM_001129831;NM_001129832;NM_001129833;NM_001129834;NM_001129835;NM_001129836;NM_001129837;NM_001129838;NM_001129839;NM_001129840;NM_001129841;NM_001129842;NM_001129843;NM_001129844;NM_001129846;NM_001167623;NM_001167624;NM_001167625;NM_199460;XM_006719015;XM_006719016;XM_006719017;Z26257;Z26294;Z26295;Z26308;Z34809;Z34810;Z34811;Z34812;Z34813;Z34814;Z34815;Z34816;Z34817;Z34818;Z34819;Z34820;Z34821;Z34822;Z74996 AAA02500;AAA17030;AAA51899;AAA51900;AAA51901;AAA58409;AAA62832;AAA74590;AAB59461;AAC28649;AAH93695;AAI46847;AAM70049;AAM98755;AAT02226;AAT67986;AAT67987;AAX37354;AAX37355;AAX37356;BAD92253;BAH13781;CAA12174;CAA81218;CAA81219;CAA84340;CAA84341;CAA84342;CAA84343;CAA84344;CAA84345;CAA84346;CAA84347;CAA84348;CAA84349;CAA84350;CAA84351;CAA84352;CAA84353;CAA99284;CAD61168;CAD61169;EAW88895;EAW88896;EAW88897;EAW88898;EAW88899;EAW88900;EAW88901;EAW88902;EAW88903;EAW88904;EAW88905;EAW88906;EAW88907;EAW88908;EAW88909;EAW88910;NP_000710;NP_001123299;NP_001123301;NP_001123302;NP_001123303;NP_001123304;NP_001123305;NP_001123306;NP_001123307;NP_001123308;NP_001123309;NP_001123310;NP_001123311;NP_001123312;NP_001123313;NP_001123314;NP_001123315;NP_001123316;NP_001123318;NP_001161095;NP_001161096;NP_001161097;NP_955630;Q13936;XP_006719078;XP_006719079;XP_006719080 Hs.118262;Hs.690010 1334589;1337399;1340038;1341339;1654910;1659697;1661476;1665757;1669620;1671597;1683014;1684056;1693864;1693866;1693868;1693870;1693872;1698220;1705432;1724607;1731847;1734010;1734014;1742899;1748497;1752493;1754557;1759175;1759493;1766823;1770738;1772105;1778617;1852594;2116259;2117757;2118412;2124175;2132832;2132834;2146373;2153856;2154442;2155803;2155978;2156996;2161177;2177027;2177105;5016899;5491314;5493349;7185055;7185413;7187837 A001U36;AF045313;D12S100;D12S1076;D12S1092;D12S1094;D12S1096;D12S1108;D12S1113;D12S1116;D12S1117;D12S1392E;D12S1443;D12S1615;D12S1689;D12S1694;D12S2044;D12S2049;D12S2051;D12S381E;G17659;G19668;G30965;G41239;G42621;G42623;G42624;G42625;G42626;GDB:214834;RH102646;RH121301;RH25054;RH27134;RH44512;RH44799;RH48669;RH78411;RH93423;SHGC-106399;SHGC-132840;SHGC-150871;SHGC-151138;SHGC-152191;SHGC-30605;SHGC-37464;SHGC-57441;SHGC-6998;SHGC-83797;STS-H29303;UniSTS:485794;WI-18742;WI-3910 CACH2;CACN2;CACNL1A1;CCHL1A1;CaV1.2;LQT8;MGC120730;TS DHPR, alpha-1 subunit;OTTHUMP00000196730;OTTHUMP00000196731;OTTHUMP00000196732;OTTHUMP00000196733;OTTHUMP00000196734;OTTHUMP00000196735;OTTHUMP00000196736;OTTHUMP00000196737;OTTHUMP00000196738;OTTHUMP00000196739;OTTHUMP00000196740;OTTHUMP00000196741;OTTHUMP00000196742;OTTHUMP00000196743;OTTHUMP00000196744;OTTHUMP00000196746;OTTHUMP00000196747;OTTHUMP00000196748;OTTHUMP00000196749;OTTHUMP00000196750;OTTHUMP00000196751;OTTHUMP00000238277;OTTHUMP00000238278;OTTHUMP00000238479;calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle;calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle;calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit;calcium channel, voltage-dependent, alpha 1c subunit;voltage-dependent L-type Ca2+ channel alpha 1 subunit;voltage-dependent L-type calcium channel subunit alpha-1C;voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*;voltage-gated calcium channel alpha subunit Cav1.2;voltage-gated calcium channel subunit alpha Cav1.2 APPROVED protein-coding ENSG00000151067 HGNC:1390 00246 114205;601005;611875 REVIEWED 731992 CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013] X X X p11.23 52574536 52602846 + 49061523 49089833 - 49205063 49233371 - 734671;1580863;6480464;6907045;7240710;7204688;8554872;8699517 12111638;21746798 10873387;10900517;11281458;11381068;12187427;12552565;12719097;12807962;12853422;12860808;12954628;14973233;15452577;15634789;15761389;15772651;15807819;15897456;16085774;16382099;16476079;16505158;16921373;16960802;17474147;17525176;17651254;17949918;18206315;19029287;19717559;20139964;20301423;20398921;20801516;21920492;22069316;22194652;22735794;22744390;22936811;23219801;23714322;24124559;24796500;7571473;7633454;8889548;8889549;8933343;9344658;9529339;9662399;9662400 778 H7C549;O60840 AA019975;ABBA01046135;ABBA01046136;ABBA01046137;ABBA01046138;ABBA01046139;ABBA01046140;ABBA01046141;AC232271;AF067227;AF196779;AF201304;AF235097;AJ006216;AJ224874;AMYH02039324;BM931932;CH471224;JF701915;NG_009095;NM_001256789;NM_001256790;NM_005183;U93305 AAB92359;AAD03587;AAF15290;AED89557;CAA06916;CAA12175;EAW50677;EAW50678;EAW50679;EAW50680;EAW50681;EAW50682;EAW50683;NP_001243718;NP_001243719;NP_005174;O60840 Hs.632799 1298117;1298195;1338510 D2S1788;D2S405;DXS8060 AIED;COD3;COD4;CORDX;CORDX3;CSNB2;CSNB2A;CSNBX2;Cav1.4;Cav1.4alpha1;JM8;JMC8;OA2 Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2);OTTHUMP00000024299;OTTHUMP00000032032;OTTHUMP00000216983;calcium channel, voltage-dependent, alpha 1f subunit;voltage gated calcium channel alpha 1F subunit;voltage-dependent L-type calcium channel subunit alpha-1F;voltage-gated calcium channel subunit alpha Cav1.4 APPROVED protein-coding ENSG00000102001 HGNC:1393 02119 300071;300110;300476;300600 REVIEWED 1349571 CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 3 3 3 p21.1 54123406 55075102 + 54156620 55108584 + 54122593 55074557 + 1580863;6480464;6907045;8554872 10737800;11245980;11329013;12181424;12477932;17937436;18519826;18588891;19240061;20379614;20889312;21074052;22395973;22542470;22644305;23324578;23560067;23649311;23870195;24096698;24315451;24375517 55799 B4DSF6;C9JAV5;F8WAV4;Q8IZS8 ABBA01024457;ABBA01024458;ABBA01024459;ABBA01024460;ABBA01024461;ABBA01024462;ABBA01024463;ABBA01024464;ABBA01024465;ABBA01024466;AC092057;AC092797;AC104298;AC109581;AC109584;AC115282;AC133010;AC137673;AC138059;AF516696;AJ272213;AJ272268;AK299718;AK307449;AMYH02006833;AMYH02006834;AMYH02006835;AMYH02006836;AMYH02006837;AMYH02006838;AMYH02006839;AW905454;BC137502;BC137505;BE702896;BE768691;BG206136;BG213431;BI753834;CH471055;KF457637;NM_018398;XM_005265318;XM_005265319;XR_245150;XR_427281;XR_427282 AAI37503;AAI37506;AAN06673;BAG61618;CAB75878;CAB75962;EAW65303;EAW65304;NP_060868;Q8IZS8;XP_005265375;XP_005265376 Hs.656687 1336638;1337433;1340199;1340468;1340768;1340899;1341411;1650001;1664899;1670484;1672915;1677446;1699166;1701028;1706170;1716035;1718179;1718327;1723219;1729978;1730081;1731299;1731855;1751447;1751809;1752059;1759701;1759723;1762931;1763441;1766515;1784588;1784594;1784782;1784818;2110465;2120416;2124649;2131348;2143540;2159403;2160142;2185520;5093292;7185554;7187578 A009K48;AFMA048XB9;D3S1236;D3S1241;D3S1289;D3S1447;D3S1582;D3S1613;D3S2567E;D3S3080;D3S3660;D3S3666;D3S3672;D3S4050;D3S4145;D3S717;G16563;G32633;HT017__7511;RH103162;RH104141;RH120956;RH122293;RH122858;RH122935;RH26835;RH65515;RH78885;SHGC-105280;SHGC-105801;SHGC-106008;SHGC-111457;SHGC-111488;SHGC-146684;SHGC-147153;SHGC-149832;SHGC-150991;SHGC-150992;SHGC-155025;SHGC-155305;SHGC-77015;SHGC-80609;STS-AA101173;WI-21592 HSA272268 OTTHUMP00000213118;OTTHUMP00000213119;calcium channel alpha2-delta3 subunit;calcium channel, voltage-dependent, alpha 2/delta 3 subunit;voltage-dependent calcium channel subunit alpha-2/delta-3;voltage-gated calcium channel subunit alpha-2/delta-3 APPROVED protein-coding ENSG00000157445 HGNC:15460 05907 606399 REVIEWED 68989 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011] 17 17 17 q22 45099811 45165917 + 48638429 48704835 + 50561068 50629625 + 68747;68748;68746;1580863;2316207;6480464;6907045;7204688;8554872 10615950;11073957;14615287;21746798;9495342 10493502;10548410;10574461;10648811;10692398;11927664;12168954;12477932;12676336;12752779;15465033;15774856;16382099;16671074;16713569;17397049;17446221;17591929;18591418;18663131;18663132;18801335;19211869;19455149;20416077;20435690;21438841;21788606;22469755;22572848;22574369;22973059;22973060;23488970;23535033;24268883;24722188 8913 H0YAN0;I3L2W8;O43497 AB012043;AB032949;ABBA01041240;ABBA01041241;ABBA01041242;ABBA01041243;AC004590;AC021491;AF029228;AF029229;AF124351;AF126965;AF126966;AF134985;AF134986;AF190860;AF227744;AF227745;AF227746;AF227747;AF227748;AF227749;AF227750;AF227751;AK296513;AMYH02033595;AMYH02033596;BC110995;CH471109;DQ494449;DQ494450;DQ494451;DQ494452;DQ494453;DQ494454;DQ494455;DQ494456;DQ494457;DQ494458;DQ494459;DQ494460;DQ494461;DQ494462;DQ494463;DQ494464;DQ494465;DQ494466;DQ494467;DQ494468;DQ494469;DQ494470;DQ494471;DQ494472;DQ494473;DQ494474;DQ494475;DQ494476;DQ494477;DQ494478;DQ494479;FB571393;FB571395;FB571397;FB571399;FB571401;FB571403;FB571405;FB571407;FB571409;FB571411;FB571413;FB571415;FB571417;FB571419;FB571421;KJ534993;KJ535064;NG_032024;NM_001256324;NM_001256325;NM_001256326;NM_001256327;NM_001256328;NM_001256329;NM_001256330;NM_001256331;NM_001256332;NM_001256333;NM_001256334;NM_001256359;NM_001256360;NM_001256361;NM_018896;NM_198376;NM_198377;NM_198378;NM_198379;NM_198380;NM_198382;NM_198383;NM_198384;NM_198385;NM_198386;NM_198387;NM_198388;NM_198396;NR_046054;NR_046055;NR_046056;NR_046057;NR_046058;R43876;XM_006722160;XM_006722161 AAD12731;AAD12732;AAD29400;AAD29401;AAD34352;AAF19346;AAF19347;AAF35287;AAF37689;AAF37690;AAF37691;AAF37692;AAF37693;AAF37694;AAF37695;AAF37696;AAI10996;ABF69900;ABF69901;ABF69902;ABF69903;ABF69904;ABF69905;ABF69906;ABF69907;ABF69908;ABF69909;ABF69910;ABF69911;ABF69912;ABF69913;ABF69914;ABF69915;ABF69916;ABF69917;ABF69918;ABF69919;ABF69920;ABF69921;ABF69922;ABF69923;ABF69924;ABF69925;ABF69926;ABF69927;ABF69928;ABF69929;ABF69930;AHW56633;AHW56703;BAA36409;BAA86437;BAG59145;CAR95114;CAR95115;CAR95116;CAR95117;CAR95118;CAR95119;CAR95120;CAR95121;CAR95122;CAR95123;CAR95124;CAR95125;CAR95126;CAR95127;CAR95128;EAW94596;EAW94597;EAW94598;EAW94599;EAW94600;EAW94601;NP_001243253;NP_001243254;NP_001243255;NP_001243256;NP_001243257;NP_001243258;NP_001243259;NP_001243260;NP_001243261;NP_001243262;NP_001243263;NP_001243288;NP_001243289;NP_001243290;NP_061496;NP_938190;NP_938191;NP_938192;NP_938193;NP_938194;NP_938196;NP_938197;NP_938198;NP_938199;NP_938200;NP_938201;NP_938202;NP_938406;O43497;XP_006722223;XP_006722224 Hs.591169 2128157;2169146;5095171;5114024;5491946 CACNA1G-1;CACNA1G-SNP1;D17S747;RH78047;RH93018 Ca(V)T.1;Cav3.1;MGC117234;NBR13 OTTHUMP00000221509;OTTHUMP00000221510;OTTHUMP00000221511;OTTHUMP00000221512;OTTHUMP00000221513;OTTHUMP00000221514;OTTHUMP00000221515;OTTHUMP00000221516;OTTHUMP00000221517;OTTHUMP00000221518;OTTHUMP00000221560;OTTHUMP00000221561;OTTHUMP00000221562;OTTHUMP00000221563;OTTHUMP00000221564;OTTHUMP00000221565;OTTHUMP00000221566;OTTHUMP00000221567;OTTHUMP00000221568;OTTHUMP00000221569;OTTHUMP00000221570;OTTHUMP00000221572;OTTHUMP00000221573;OTTHUMP00000221574;OTTHUMP00000221575;OTTHUMP00000221590;OTTHUMP00000221591;OTTHUMP00000221592;OTTHUMP00000221593;OTTHUMP00000221594;calcium channel, voltage-dependent, T type, alpha-1G subunit;calcium channel, voltage-dependent, alpha 1G subunit;cav3.1c;voltage-dependent T-type calcium channel alpha 1G subunit;voltage-dependent T-type calcium channel subunit alpha-1G;voltage-dependent calcium channel alpha 1G subunit, isoform 11;voltage-gated calcium channel subunit alpha Cav3.1 APPROVED protein-coding ENSG00000006283 HGNC:1394 04961 604065 REVIEWED 68996 CACNA1I calcium channel, voltage-dependent, T type, alpha 1I subunit This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 22 22 22 q13.1 23768830 23887794 + 39966758 40085740 + 39570753 39689738 + 1580863;6480464;6907045;7204688;8554872 21746798 10454147;10574461;10591208;10749850;11927664;12080115;12477932;15174051;15254077;16382099;16740636;16939858;17535809;18591418;22883433;23382691;23488970 8911 Q9P0X4 AB032946;ABBA01055578;ABBA01055579;ABBA01055580;ABBA01055581;ABBA01055582;ABBA01055583;AF129133;AF142567;AF211189;AF393329;AL008716;AL022312;AL022319;AMYH02038386;AMYH02038387;BC042972;CH471095;KF457459;N52765;NM_001003406;NM_021096;XM_006724348 AAD45251;AAF25722;AAF44626;AAM67414;BAA86434;EAW60345;EAW60346;EAW60347;EAW60348;EAW60349;EAW60350;EAW60351;NP_001003406;NP_066919;Q9P0X4;XP_006724411 Hs.125116 1684445;1711494;1733238;1747503;1747505;2148448;2149341;5021978 D22S578;D22S645;G10206;G49248;G65375;G65376;RH75338;contig_249751 Cav3.3;KIAA1120;ca(v)3.3 OTTHUMP00000199122;OTTHUMP00000199123;OTTHUMP00000199124;OTTHUMP00000199125;ca(v)3.3;calcium channel, voltage-dependent, alpha 1I subunit;voltage-dependent T-type calcium channel subunit alpha-1I;voltage-gated calcium channel subunit alpha Cav3.3 APPROVED protein-coding ENSG00000100346 HGNC:1396 10500 608230 REVIEWED 737609 CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] 3 3 3 p21.3 50373061 50513724 - 50400230 50540892 - 50362799 50503461 - 1580863;6480464;6907045 10762351;10766861;11085536;11292331;11851383;12477932;12555074;12771254;15027117;15033513;15111129;15331424;16344560;17135419;19927152;20561025;21651903;21809394;21906983;23339110;23402298;24358150;9628581 9254 C9JE82;C9JVC9;Q9NY47 AB011130;ABBA01024546;ABBA01024547;ABBA01024548;ABBA01024549;AF040709;AF042792;AF042793;AJ251367;AJ251368;AK074820;AK310138;AL450422;AMYH02006769;AMYH02006770;AMYH02006771;AW451435;AW952467;BC152438;BF373910;CH471055;DA760583;KF457634;NG_034070;NM_001005505;NM_001174051;NM_001291101;NM_006030;XM_005265581;Z75742;Z75743;Z84492;Z84494;Z84495 AAB96913;AAB96914;AAC70914;AAI52439;BAA25484;CAB86192;CAB86193;EAW65118;EAW65119;EAW65120;EAW65121;NP_001005505;NP_001167522;NP_001278030;NP_006021;Q9NY47;XP_005265638 Hs.476273;Hs.674666 1338000;1682792;1793458;1793460;1793462;1793464;1793466;1793500;1793502;1795462;2174251;2179573;7185404 A006W17;CACNA2D2_1675;D3S1568;PMC22669P10;PMC22669P11;PMC22669P12;PMC22669P13;PMC22669P14;PMC22669P8;PMC22669P9;RH47509;RH80071 CACNA2D;KIAA0558;LUAC11.1 OTTHUMP00000210930;OTTHUMP00000210931;OTTHUMP00000210932;OTTHUMP00000210933;OTTHUMP00000212538;OTTHUMP00000212539;alpha 2 delta calcium channel subunit;calcium channel, voltage dependent, alpha2/delta subunit 2;gene 26;voltage-dependent calcium channel subunit alpha-2/delta-2;voltage-gated calcium channel subunit alpha-2/delta-2 APPROVED protein-coding ENSG00000007402 HGNC:1400 06154 607082 REVIEWED 6481194 CACNA2D3-AS1 CACNA2D3 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 3 3 54908632 54935282 - 54874605 54901255 - 8554872 14702039 100874237 ABBA01024460;ABBA01024461;AC109584;AK092143;AMYH02006838;HG495688;KF457637;NR_046666 Hs.570583 FLJ34824;RP11-674P14.1 APPROVED ncrna ENSG00000243715 HGNC:40702 PREDICTED 68993 CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008] 16 16 16 p13.3 1418957 1487666 + 1203241 1271772 + 1153241 1221772 + 1358447;1580863;6480464;6907045;7240710;7204688;8554872 12891677;21746798 10414291;10861024;11157797;11751928;11799114;11927664;12808460;12853961;14529577;14602827;14631046;14729682;15498803;15616553;15833171;15852375;16133267;16301824;16303743;16377633;16382099;16443692;16475676;16504478;16565161;16754686;16905256;16973746;17081983;17156077;17215393;17696120;18218623;18230611;18309285;18591418;18708747;19131331;19144837;19336002;19342457;19609347;19641113;19903827;19948975;20147652;20201926;20699644;21059758;21084288;21099341;21438841;21788606;22130660;22469755;22564432;22572848;22574369;23111027;23488970;23503728;23602568;23626738;23669360;23671274;23849427;23903007;23970551;24508802;8619474;9110174;9670923;9930755 8912 B3KQH9;H3BMW6;H3BNT0;H3BPX6;H3BUA8;O95180 ABBA01030324;ABBA01030325;ABBA01030326;ABBA01030327;ABBA01030328;ABBA01030329;AC120498;AE006466;AF051946;AF070604;AF073931;AF223560;AF223561;AF223562;AF223563;AJ420779;AK074965;AL031703;AL031715;AMYH02031216;AMYH02031217;AMYH02031218;AMYH02031219;AMYH02031220;AMYH02031221;AMYH02031222;AMYH02031223;BM554380;CA335096;CD243650;CH471112;DQ363526;DQ363527;DQ363528;DQ363529;NG_012647;NM_001005407;NM_021098;XM_005255652;XM_006720963;XM_006720964;XM_006720965;XM_006720966;XM_006720967;XM_006720968;XM_006720969 AAC67239;AAD17668;AAF60160;AAF60161;AAF60162;AAF60163;AAK61268;ABC88009;ABC88010;ABC88011;ABC88012;BAG52041;CAC42094;CAD12646;EAW85683;EAW85684;NP_001005407;NP_066921;O95180;XP_005255709;XP_006721026;XP_006721027;XP_006721028;XP_006721029;XP_006721030;XP_006721031;XP_006721032 Hs.459642 1795460 CACNA1H_1248 CACNA1HB;Cav3.2;ECA6;EIG6;FLJ90484 calcium channel, voltage-dependent, T type, alpha 1Hb subunit;low-voltage-activated calcium channel alpha1 3.2 subunit;low-voltage-activated calcium channel alpha13.2 subunit;voltage dependent t-type calcium channel alpha-1H subunit;voltage-dependent T-type calcium channel subunit alpha-1H;voltage-gated calcium channel alpha subunit Cav3.2;voltage-gated calcium channel alpha subunit CavT.2;voltage-gated calcium channel subunit alpha Cav3.2 APPROVED protein-coding ENSG00000196557 HGNC:1395 07442 607904;611942 REVIEWED 731942 CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 7 7 7 q21-q22 76279569 76773517 - 81575760 82073031 - 81946444 82443715 - 1580863;6480464;6907045;8554872 10534405;11160515;12477932;12853948;1309651;14602720;14702039;16335952;17224476;17438119;19001023;19056867;19106618;19240061;20301690;20360068;20379614;20579869;20708005;20817017;20848476;20889312;21383000;21464332;22939629;23006423;23242029;23251661;23414114;23665963;23934736;24159190;24329154;2458626;7951247;8107964;8188232;9847074 781 B7Z658;E7ERK3;H0Y715;P54289;Q9UIU0 ABBA01058068;ABBA01058069;ABBA01058070;ABBA01058071;ABBA01058072;ABBA01058073;ABBA01058074;ABBA01058075;ABBA01058076;ABBA01058077;AC004892;AC004970;AC004989;AC005159;AC006145;AC008283;AF083854;AK092048;AK299838;AL707206;AL833141;AMYH02016156;AMYH02016157;AMYH02016158;AMYH02016159;AMYH02016160;AMYH02016161;AMYH02016162;AMYH02016163;AMYH02016164;BC051339;BC117468;BC117470;BG055272;BI545104;BU501177;CH236949;CH471091;KF458487;M76559;NG_009358;NM_000722;XM_005250570;XM_005250572;XM_005250573;XM_005250574;XM_006716118;XM_006716119;XM_006716120;XM_006716121;Z28599 AAA51903;AAC78619;AAD20938;AAD51454;AAF03259;AAF19234;AAI17469;AAI17471;BAH13144;EAW76990;NP_000713;P54289;XP_005250627;XP_005250629;XP_005250630;XP_005250631;XP_006716181;XP_006716182;XP_006716183;XP_006716184 Hs.282151;Hs.743228 1341053;1648249;1673622;1696796;1696808;1708108;1713441;1720267;1750365;1752897;2106967;2116140;2139677;2140878;2146283;2172465 CACNA2D1__2648;CACNL2A;D7S1435;D7S1507;D7S1996;G49141;G49147;GDB:1318495;RH119578;RH123882;RH17738;SHGC-106835;SHGC-112539;SHGC-81452;UD2;WI-7124 CACNA2;CACNL2A;CCHL2A;LINC01112;lncRNA-N3 OTTHUMP00000161364;calcium channel, L type, alpha 2 polypeptide;calcium channel, voltage-dependent, alpha2/delta subunit 1;dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit;long intergenic non-protein coding RNA 1112;voltage-dependent calcium channel subunit alpha-2/delta-1;voltage-gated calcium channel subunit alpha-2/delta-1 APPROVED protein-coding ENSG00000153956 HGNC:1399 00245 114204 REVIEWED 736857 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008] 1 1 1 q32 174132677 174205677 - 201008635 201081694 - 201039507 201112566 - 1300372;1300373;1580863;6480464;6907045;7240710;7204688;8554872;8699517 21746798;7847370;9199552 11206130;12477932;12496092;12636044;1322891;14660679;15072700;15711422;15716625;15726306;16382099;17204937;17418573;17587224;18229654;19118277;19134469;19187971;19191329;19779499;19825159;20301325;20301512;20379614;20424473;20618440;20861472;21248738;21262876;21774221;21841462;21845430;21855088;21931568;22140091;22863883;22927026;23788249;24013571;2844809;3037387;7713519;7897626;7916735;7987325;8004673;8118099;8188298;8592342;8838325;9175745;9668070;9852570 779 B1ALM3;Q13698 ABBA01027535;ABBA01027536;ABBA01027537;AL139159;AL358473;AMYH02002475;AMYH02002476;BC133671;CH471067;KF455130;L33798;NG_009816;NM_000069;U09784;U14413;U18986;U30707;XM_005245478 AAA20531;AAA51902;AAB37235;AAC50397;AAC50398;AAI33672;EAW91333;EAW91334;EAW91335;NP_000060;Q13698;XP_005245535 Hs.1294 1692468;1742327;1743783;1765531;1797342;2116210;2131635;2154837;2157615;2182480;5491870 AL033885;CACNA1S;CACNA1S_2396;D1S3520;G09493;GDB:196341;GDB:373596;RH71040;SHGC-149005;SHGC-76114;SHGC-76141 CACNL1A3;CCHL1A3;Cav1.1;HOKPP;HOKPP1;MHS5;TTPP1 OTTHUMP00000033931;OTTHUMP00000033932;calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis);calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle;dihydropyridine receptor;dihydropyridine-sensitive L-type calcium channel alpha-1 subunit;hypoPP;voltage-dependent L-type calcium channel subunit alpha-1S;voltage-gated calcium channel subunit alpha Cav1.1 APPROVED protein-coding ENSG00000081248 HGNC:1397 00248 114208;170400;188580;601887 REVIEWED 68552 CACNB1 calcium channel, voltage-dependent, beta 1 subunit The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q21-q22 33990617 34014805 - 37329709 37353956 - 39173456 39197703 - 734675;1580863;6480464;6907045;7204688;8554872 21746798;8395940 10066897;10465427;10624822;12477932;1309651;1370480;1385409;14623965;14760703;14762176;15342556;1657644;16713569;17081983;19821165;19953087;21098446;21832049;21906983;23382691;23602568;7916667;8381767;8905728;8943043 782 Q02641 AA694045;AB054985;AB209176;ABBA01031881;ABBA01031882;ABBA01031883;AC004408;AK127283;AK289729;AK297643;AK300666;AK312385;AMYH02033373;AY393857;BC037311;BP217857;CH471152;L06110;L06111;L06112;M76560;M92301;M92302;M92303;NM_000723;NM_199247;NM_199248;U86960;XM_005257645;XM_005257646;XM_005257647;XM_006722072;Z21725;Z21726 AAA35631;AAA35632;AAA35633;AAA36167;AAA36168;AAA36169;AAA51894;AAB58779;AAB58780;AAB58781;AAH37311;AAQ97605;ABM82614;ABW03409;BAB21444;BAD92413;BAF82418;BAG54473;BAH12640;BAH13323;CAA79824;CAA79825;EAW60556;EAW60557;EAW60558;EAW60559;EAW60560;EAW60561;EAW60562;EAW60563;EAW60564;NP_000714;NP_954855;NP_954856;Q02641;XP_005257702;XP_005257703;XP_005257704;XP_006722135 Hs.635 1739465;1777354;2117361;2157438;5017975;5018097 CACNB1;D17S1655;G73122;RH12690;RH71354;WI-7808 CAB1;CACNLB1;CCHLB1;MGC41896 OTTHUMP00000164286;OTTHUMP00000164287;calcium channel voltage-dependent subunit beta 1;calcium channel, L type, beta 1 polypeptide;dihydropyridine-sensitive L-type, calcium channel beta-1 subunit;voltage-dependent L-type calcium channel subunit beta-1 APPROVED protein-coding ENSG00000067191 HGNC:1401 11743 114207 REVIEWED 1346782 CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 12 12 12 p13.33 3508846 3635489 - 1901123 2027870 - 1791957 1918704 - 1580863;6480464;6907045;7240710;8554872;8699517 12181424;12477932;17033974;20379614;22488967;23942779;24324551 93589 B4DVU4;E7EUE0;K7EIY9;K7EJY1;K7ER25;K7ER98;Q7Z3S7;X6RLU5;X6RLY7 AA001411;ABBA01048814;ABBA01048815;ABBA01048816;ABBA01048817;AC005342;AC005343;AF516695;AI160471;AK301234;AL137658;AMYH02025877;AMYH02025878;AMYH02025879;BC048288;BC150186;BI908421;BX457018;BX537436;BX537437;CA443847;CH471116;KC877505;NG_012663;NM_172364;XR_242992 AAH48288;AAI50187;AAN06672;ACE86813;ACE87500;BAG62806;CAD97678;CAD97679;EAW88918;EAW88919;EAW88920;NP_758952;Q7Z3S7 Hs.13768 1693860;1756447;2120191;2175247;2181730;2217096 CACNA2D4_497;G09509;G42619;RH11342;SHGC-143451;SHGC-53029 RCD4 OTTHUMP00000237961;OTTHUMP00000237964;voltage-dependent calcium channel subunit alpha-2/delta-4;voltage-gated calcium channel alpha(2)delta-4 subunit;voltage-gated calcium channel subunit alpha-2/delta-4 APPROVED protein-coding ENSG00000151062 HGNC:20202 12182 608171;610478 REVIEWED 732576 CACNB2 calcium channel, voltage-dependent, beta 2 subunit This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013] 10 10 10 p12 18116041 18517577 + 18429373 18830688 + 18140677 18541759 + 734673;6480464;6907045;7240710;7204688;7240708;8554872;8699517 21746798;23091085;9254841 10066897;10441130;10465427;10567342;10623591;12042350;12477932;12719232;1309651;14623965;14702039;14762176;15339916;16344560;16385451;17224476;17525370;18464913;18519826;18676988;19106618;19197348;19241460;19358333;19430479;20025708;20201926;20301690;20379614;20386566;20414254;20479155;20677014;20817017;21045733;21156931;21909110;21909115;21963141;22090166;23251661;23319000;23414114;23453885;23704328;23974872;24338417;8107964;8395157;8494331;8889549;9252229;9461395;9594024;9757060 783 A6PVM6;AAB27916;Q08289;Q59H42;Q5VVH1 AB208917;ABBA01034537;ABBA01034538;ABBA01034539;ABBA01034540;ABBA01034541;ABBA01034542;AF137376;AF137377;AF285239;AF423189;AF423190;AF423191;AF423192;AF465485;AK021994;AK022426;AK128769;AK293837;AK293937;AK295113;AK296471;AK299873;AK307526;AK307800;AK310943;AK311694;AL119895;AL139814;AL162054;AL353603;AL360231;AL390783;AL450364;AL450384;AL599294;AL600557;AMYH02022371;AMYH02022372;AMYH02022373;AMYH02022374;AMYH02022375;AMYH02022376;AMYH02022377;AMYH02022378;AY027898;AY393858;AY393859;AY393860;AY393861;AY393862;AY393863;AY675091;AY675092;BC136409;BM312516;CH471072;DB235418;DC307859;DC352526;NG_016195;NM_000724;NM_001167945;NM_201570;NM_201571;NM_201572;NM_201590;NM_201593;NM_201596;NM_201597;S60415;U95019;XM_005252588;XM_005252591;XM_006717502 AAB27916;AAB51370;AAB53332;AAD33729;AAD33730;AAG01473;AAI36410;AAK16994;AAL16948;AAL16949;AAL16950;AAL16951;AAL73495;AAQ97606;AAQ97607;AAQ97608;AAQ97609;AAQ97610;AAQ97611;AAV49501;AAV49502;BAD92154;BAH11608;BAH11631;BAH11979;BAH12366;BAH13158;EAW86193;EAW86194;EAW86195;EAW86196;EAW86197;NP_000715;NP_001161417;NP_963864;NP_963865;NP_963866;NP_963884;NP_963887;NP_963890;NP_963891;Q08289;XP_005252645;XP_005252648;XP_006717565 Hs.59093 1339504;1650522;1656293;1668547;1700486;1709914;1713267;1740853;1768487;1782030;1782092;2123681;2155677;2166623;2174633;5016851;5017266;5020948;5109281;7184452;7187966 A008O21;D10S2318;D10S2356;D10S548;D1S1425;G15938;G35510;L18506;RH103864;RH120624;RH17936;RH44603;RH80031;SHGC-149805;SHGC-154459;SHGC-30313;SHGC-35043;SHGC-84814;STS-S60415 CAB2;CACNLB2;CAVB2;FLJ23743;MYSB OTTHUMP00000019254;OTTHUMP00000019255;OTTHUMP00000019256;OTTHUMP00000019257;OTTHUMP00000019258;OTTHUMP00000196783;OTTHUMP00000196784;OTTHUMP00000196786;calcium channel voltage-dependent subunit beta 2;lambert-Eaton myasthenic syndrome antigen B;myasthenic (Lambert-Eaton) syndrome antigen B;voltage-dependent L-type calcium channel subunit beta-2 APPROVED protein-coding ENSG00000165995 HGNC:1402 02473 600003;611876 REVIEWED 68558 CACNB4 calcium channel, voltage-dependent, beta 4 subunit This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 2 2 2 q22-q23 146303966 146570260 - 152689285 152955593 - 151832771 152099079 - 734674;1580863;6480464;6907045;7240710;7204688;8554872;8699517 10762541;21746798 10212211;11880487;12477932;14623965;15170217;15342556;15489334;16169070;16344560;16385006;16525042;16866717;17618603;18446307;18712068;18755274;19807924;20200978;20301317;20301674;21220418;21297076;22892567;23756480;24025145;8825650;9252229;9254840;9254841;9442082;9530629;9628818;9757060 785 C9J224;E7DBM8;E7EN11;F8WA06;H0Y476;O00305 AB302276;ABBA01004782;ABBA01004783;ABBA01004784;ABBA01004785;ABBA01004786;AC068547;AC079790;AC097448;AF038852;AF075047;AF216867;AK290049;AK291378;AK294398;AK316045;AL700210;AMYH02004987;AMYH02004988;AMYH02004989;AMYH02004990;AY054985;BC075049;BP229182;BP360802;BX279713;BX484858;BX648679;CH471058;DA782833;HQ214056;NG_012641;NM_000726;NM_001005746;NM_001005747;NM_001145798;T23939;U95020;XM_005246838;XM_006712731;XM_006712732 AAB53333;AAC24206;AAF61674;AAH75049;AAL14351;AAX82014;AAY14711;AAY14759;ADP09414;BAF73808;BAF82738;BAF84067;BAG57651;BAH14416;EAX11493;EAX11494;NP_000717;NP_001005746;NP_001005747;NP_001139270;O00305;XP_005246895;XP_006712794;XP_006712795 Hs.120725 1339368;1707734;1734974;1756393;1765687;1774475;1779190;1784234;1784238;1854083;2217098 CACNB4_2927;D2S1720E;D2S1751;D2S2236;SHGC-143363;SHGC-149129;SHGC-152741;SHGC-156047;SHGC-156071;SHGC-82083;WI-15038 CAB4;CACNLB4;EA5;EIG9;EJM;EJM4;EJM6 OTTHUMP00000207228;OTTHUMP00000207246;OTTHUMP00000207247;OTTHUMP00000207248;OTTHUMP00000207249;OTTHUMP00000209460;calcium channel voltage-dependent subunit beta 4;dihydropyridine-sensitive L-type, calcium channel beta-4 subunit;voltage-dependent L-type calcium channel subunit beta-4 APPROVED protein-coding ENSG00000182389 HGNC:1404 09057 601949;607682;613855 REVIEWED 735859 CACNB3 calcium channel, voltage-dependent, beta 3 subunit This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011] 12 12 12 q13 48008638 48018850 + 49208215 49222726 + 48814432 48828943 + 1580863;6480464;6907045;7204688 21746798 11160515;12181424;12477932;14702039;15028279;15170217;15489334;16344560;16525042;19807924;19917615;21926972;7557998;8119293;8494331;8617257;8621722;8825650 784 F8VNV8;F8VU10;F8VUW8;F8VV14;F8VWK1;F8W0F8;F8W1N3;H0YHK1;H0YHY2;P54284 ABBA01031488;AC117498;AK122911;AK289709;AK297639;AK300901;AK304537;AK316323;AL534844;AL537072;AL702978;AMYH02026427;BC041811;BI667991;CD013906;CH471111;D43704;DB277524;L27584;NG_030048;NM_000725;NM_001206915;NM_001206916;NM_001206917;U07139;X76555;X76556;XM_005269142;XM_006719590;XM_006719591;XM_006719592 AAA19799;AAA95958;AAH41811;BAA07803;BAF82398;BAH12637;BAH13371;BAH14209;BAH14694;CAA54055;CAA54056;EAW58008;EAW58009;NP_000716;NP_001193844;NP_001193845;NP_001193846;P54284;XP_005269199;XP_006719653;XP_006719654;XP_006719655 Hs.250712;Hs.737291 1770419;1770648;1795464;2146421;5492080 CACNB3_499;D12S2032;IB1472;MARC_42832-42833:1097693526:1;WI-18779 CAB3;CACNLB3;FLJ58949 OTTHUMP00000243673;OTTHUMP00000243674;OTTHUMP00000243678;OTTHUMP00000243679;OTTHUMP00000243681;calcium channel voltage-dependent subunit beta 3;voltage-dependent L-type calcium channel subunit beta-3 APPROVED protein-coding ENSG00000167535 HGNC:1403 11879 601958 REVIEWED 732630 CACNG1 calcium channel, voltage-dependent, gamma subunit 1 Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010] 17 17 17 q24 61613382 61625583 + 65040652 65052913 + 67044536 67056797 + 734675;1580863;6480464;6907045 8395940 10613843;11170751;11738816;12477932;15489334;16344560;17652770;18187620;8111396;8387489;8404045;9186513 786 Q06432 ABBA01029014;AC005544;AF086300;AK313852;AMYH02033834;BC069493;BC113486;BC113492;CH471099;DA898357;L07738;NM_000727;Z19587;Z19603 AAA51904;AAH69493;AAI13487;AAI13493;ADR83392;BAG36580;CAA79671;CAB62573;EAW89022;NP_000718;Q06432 Hs.147989 1743011;1743027;1797344;2155864;2163205 CACNG1__2503;GDB:235907;GDB:250204;RH17604;SHGC-12505 CACNLG L-type calcium channel gamma polypeptide;dihydropyridine-sensitive L-type skeletal muscle calcium channel gamma subunit;dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma;neuronal dihydropyridine-sensitive calcium channel gamma subunit;voltage-dependent calcium channel gamma-1 subunit APPROVED protein-coding ENSG00000108878 HGNC:1405 00249 114209 REVIEWED 736548 CACNG3 calcium channel, voltage-dependent, gamma subunit 3 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010] 16 16 16 p12.1 23044814 23151626 + 24266874 24373737 + 24255553 24362416 + 1300374;1580863;6480464;6907045;8554872 10613843 10221464;10493829;11170751;12477932;14505496;14572453;14702039;15489334;17207965;17264864;17652770;18304745;20219255;21169531;21832049 10368 O60359 ABBA01017085;ABBA01017086;ABBA01017087;AC004125;AF100346;AF114832;AF134640;AK055453;AK095553;AK315150;AMYH02031717;AMYH02031718;BC033741;BC037899;BC040005;CH471145;H04803;NM_006539;XM_005255037 AAC15246;AAD22739;AAF42975;AAH37899;AAH40005;AAP97231;ADQ32452;BAG37598;BAG51520;BAG53082;EAW55793;EAW55794;NP_006530;O60359;XP_005255094 Hs.7235 1334547;1664447;1756945;1790219;2218744 CACNG3_4051;D16S672;SHGC-144113;SHGC-60568;URB036 Cacng2 OTTHUMP00000162423;TARP gamma-3;neuronal voltage-gated calcium channel gamma-3 subunit;transmembrane AMPAR regulatory protein gamma-3;voltage-dependent calcium channel gamma-3 subunit;voltage-gated calcium channel gamma subunit APPROVED protein-coding ENSG00000006116 HGNC:1407 05910 606403 REVIEWED 734378 CACNG5 calcium channel, voltage-dependent, gamma subunit 5 The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010] 17 17 17 q24 61446119 61454026 + 64831235 64881941 + 66877273 66885278 + 1300374;1580863;6480464;6907045;8554872 10613843 11170751;11738816;11927536;12477932;15489334;17652770;21057379 27091 Q9UF02 ABBA01029020;AC005988;AF142618;AF142619;AF142620;AF142621;AF148220;AF361351;AF458898;AK290171;AMYH02033829;AX101264;BC101607;BC101633;CH471099;KF511234;NM_145811 AAF00132;AAF03089;AAI01608;AAI01634;AAL50046;AAM00595;BAF82860;CAC36508;EAW89018;EAW89019;NP_665810;Q9UF02 Hs.278907 1797346 CACNG5_3025 MGC126656;MGC126682 OTTHUMP00000232948;TARP gamma-5;neuronal voltage-gated calcium channel gamma-5 subunit;transmembrane AMPAR regulatory protein gamma-5;voltage-dependent calcium channel gamma-5 subunit APPROVED protein-coding ENSG00000075429 HGNC:1409 05912 606405 REVIEWED 732322 CACNG8 calcium channel, voltage-dependent, gamma subunit 8 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010] 19 19 19 q13.4 51505965 51525810 + 54466290 54493469 + 53963036 53990215 + 1580863;6480464;6907045 11170751;11738816;14702039;17652770;18304745;18311135 59283 Q8WXS5 ABBA01068181;ABBA01068182;AC008440;AF234892;AF288388;AF361354;AK055160;AK131287;AMYH02036441;AMYH02036442;CH471135;NM_031895 AAI57120;AAI72268;AAK15019;AAK20031;AAL50049;EAW72168;NP_114101;Q8WXS5 Hs.631595 1336954;1800612;1801818;1808172;1812292;1814682;1818574;1825130;1832070;1833750;1836230;1837400;1837604;1838530;1838746;1843590;1843644;1843912;1844586;2103390;2103392;2103394;2103396;2103398;2103400;2103402;2103404;2103406;2103408;2103410;2103412;2103414;2103416;2131215;5015881;5016596;5016851;5022578;5037552;5037554;5117897 D1S1423;D6S1576;D8S2279;D8S2282;ECD01167;ECD01790;ECD05067;ECD07153;ECD08371;ECD10349;ECD13666;ECD17173;ECD18020;ECD19276;ECD19867;ECD19969;ECD20439;ECD20551;ECD23005;ECD23033;ECD23167;ECD23507;GDB:335751;GDB:631802;GDB:631813;RH80031;WI-22592;stSG605682;stSG605683;stSG605684;stSG605685;stSG605686;stSG605687;stSG605688;stSG605689;stSG605690;stSG605691;stSG605695;stSG605696;stSG605697;stSG605698 FLJ16240;FLJ30598 OTTHUMP00000067377;TARP gamma-8;neuronal voltage-gated calcium channel gamma-8 subunit;transmembrane AMPAR regulatory protein gamma-8;voltage-dependent calcium channel gamma-8 subunit APPROVED protein-coding ENSG00000142408 HGNC:13628 06063 606900 REVIEWED 1347642 CACTIN-AS1 CACTIN antisense RNA 1 19 19 19 p13.3 3547476 3553529 + 3607245 3613928 + 3607247 3613930 + 14702039;23251661 404665 Q8N1I8 ABBA01002835;AC005175;AK097999;AMYH02035259;HG510258;NR_038865 Q8N1I8 Hs.719726 2132848;2132850 A005X06;G20563 C19orf29-AS1;C19orf29OS APPROVED ncrna ENSG00000226800 HGNC:31391 VALIDATED 735845 CACNG6 calcium channel, voltage-dependent, gamma subunit 6 Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010] 19 19 19 q13.4 51535226 51555565 + 54494403 54515920 + 53991149 54012666 + 1580863;6480464;6907045 11170751;11738816;12477932;15489334;17652770;20860846 59285 A6NFR2;A6NP74;Q9BXT2 ABBA01068180;ABBA01068181;AC008440;AF288386;AF361352;AMYH02036442;AMYH02036443;BC021552;BX281606;CH471135;NM_031897;NM_145814;NM_145815;NR_102308;XM_006723316 AAH21552;AAK20029;AAL50047;ABM86136;ABW03468;ABW03776;EAW72170;EAW72171;EAW72172;NP_114103;NP_665813;NP_665814;Q9BXT2;XP_006723379 Hs.631560 1798376;1798994;1799526;1802540;1821264;1826504;1827886;1836230;1837454;1837604;1840656;1842650;1843096;2103418;2103420;2103422;2103424;2103426;2103428;2103430;2103432;2103434;2103436;2103438;2103440;2131215 ECD00024;ECD00342;ECD00615;ECD02156;ECD11712;ECD14366;ECD15066;ECD19276;ECD19894;ECD19969;ECD21518;ECD22532;ECD22756;WI-22592;stSG605702;stSG605703;stSG605704;stSG605705;stSG605706;stSG605707;stSG605708;stSG605710;stSG605712;stSG605713;stSG605715;stSG605716 OTTHUMP00000067375;OTTHUMP00000067376;neuronal voltage-gated calcium channel gamma-6 subunit;voltage-dependent calcium channel gamma-6 subunit APPROVED protein-coding ENSG00000130433 HGNC:13625 06061 606898 REVIEWED 731676 CACNG2 calcium channel, voltage-dependent, gamma subunit 2 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010] 22 22 22 q13.1 20762236 20901711 - 36956916 37098690 - 36560869 36702645 - 1580863;6480464;6907045;7240704;8699517;7240710;8554872 22334212 10221464;10591208;10643919;11140673;11170751;11805122;12359873;12477932;14505496;14702039;15001777;15461802;15489334;15567474;15758178;16434481;16637659;16793768;17483093;17652770;18304745;18311135;18408563;18571626;19156168;19543281;19805317;20219255;20688780;21832049;23166629;23602568 10369 Q9Y698 ABBA01055449;ABBA01055450;AF096322;AK123431;AL022313;AL031845;AL049749;AMYH02038324;AMYH02038325;BC069612;BC112297;BC112299;BE670632;BI919073;CH471095;CR456414;HG512270;KF511450;KF511451;NG_031861;NM_006078;Z70289 AAD22738;AAH69612;AAI12298;AAI12300;ADR82940;CAG30300;CAK54405;CAK54704;EAW60113;NP_006069;Q9Y698 Hs.146766 1340423;1694958;1733236;2140951;2152426;2184624;7183698;7187005 D22S1258;D22S426;D22S573;D22S619;D6S1611;G44389;RH45498 FLJ41437;MGC138502;MGC138504;MRD10;RP5-1119A7.17 OTTHUMP00000028790;TARP gamma-2;neuronal voltage-gated calcium channel gamma-2 subunit;stargazin;transmembrane AMPAR regulatory protein gamma-2;voltage-dependent calcium channel gamma-2 subunit APPROVED protein-coding HGNC:1406 04220 602911;614256 REVIEWED 735495 CACNG4 calcium channel, voltage-dependent, gamma subunit 4 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] 17 17 17 q24 61533692 61602193 + 64960980 65029518 + 66964864 67033402 + 1300374;1580863;6480464;6907045;8554872 10613843 11170751;11738816;12477932;14505496;14702039;15489334;17652770;18304745;19913121;20378664;20628086;22779921 27092 Q8TCR4;Q9UBN1 ABBA01029014;AC005544;AC005988;AF142622;AF142623;AF142624;AF142625;AF162692;AK055232;AK315149;AL526464;AL713655;AL831834;AMYH02033833;BC004504;BC032765;BC034532;BF508806;CH471099;NM_014405 AAF03090;AAF14538;AAH34532;ABM82741;ABM85926;BAG37597;CAD28464;EAW89020;EAW89021;NP_055220;Q9UBN1 Hs.514423 1678553;1707640;1795466;1854946;2144924;2180688 CACNG4_503;D20S801;G17986;RH93006;SHGC-17632;SHGC-81981 MGC11138;MGC24983 TARP gamma-4;neuronal voltage-gated calcium channel gamma-4 subunit;transmembrane AMPAR regulatory protein gamma-4;voltage-dependent calcium channel gamma-4 subunit APPROVED protein-coding ENSG00000075461 HGNC:1408 05911 606404 REVIEWED 732586 CACNG7 calcium channel, voltage-dependent, gamma subunit 7 The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] 19 19 19 q13.4 51457105 51485939 + 54412704 54447195 + 53909450 53943941 + 6480464;6907045;8554872 11170751;11738816;11927536;12477932;15489334;17652770 59284 P62955 ABBA01068183;ABBA01068184;ABBA01068185;AC008440;AF288387;AF361353;AF458897;AL537399;AMYH02036436;AMYH02036437;AMYH02036438;AX101262;BC069332;BC093869;BC113503;CH471135;NM_031896;XM_005259124;XM_005259125 AAH69332;AAH93869;AAI13504;AAK20030;AAL50048;AAM00594;ADR83128;CAC36507;EAW72162;EAW72163;EAW72164;EAW72165;EAW72166;NP_114102;P62955;XP_005259181;XP_005259182 Hs.631597 1798642;1798716;1814262;1819996;1823936;1830794;1832628;1834304;1834866;1837028;1842200;2103348;2103350;2103352;2103354;2103356;2103358;2103360;2103362;2103364;2103366 ECD00160;ECD00198;ECD08160;ECD11069;ECD13063;ECD16533;ECD17455;ECD18300;ECD18583;ECD19678;ECD22303;stSG605644;stSG605645;stSG605647;stSG605648;stSG605649;stSG605656;stSG605657;stSG605660;stSG605662;stSG605663 OTTHUMP00000067298;OTTHUMP00000067299;OTTHUMP00000197715;TARP gamma-7;neuronal voltage-gated calcium channel gamma-7 subunit;transmembrane AMPAR regulatory protein gamma-7;voltage-dependent calcium channel gamma-7 subunit APPROVED protein-coding ENSG00000105605 HGNC:13626 06062 606899 REVIEWED 7241100 CACYBPP1 calcyclin binding protein pseudogene 1 10 10 10 80209386 80210749 - 86214445 86215808 - 84454689 84456052 - 100420043 ABBA01003755;AC074321;AMYH02023453;NG_025452 pseudo HGNC:45122 INFERRED 1344995 CACTIN cactin, spliceosome C complex subunit ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cellular response to interleukin-1; cellular response to lipopolysaccharide; cellular response to tumor necrosis factor; FOUND IN catalytic step 2 spliceosome; cytoplasm; extracellular vesicular exosome; INTERACTS WITH cobalt dichloride; cadmium dichloride (ortholog) 19 19 19 p13.3 3547464 3563656 - 3610626 3626813 - 3610628 3626815 - 6480464 10508479;11991638;12477932;14667819;15057824;15146197;15197164;15302935;15489334;17353931;19913121;20628086;20829348;21429463;23251661;24163370;24816145;8619474;9110174 58509 J3KMW8;K7EIU6;K7EMQ0;K7ENY9;K7EQE3;Q8WUQ7 ABBA01002835;AC005175;AC005542;AF052087;AF155102;AK299963;AMYH02035259;AW027691;AY917150;BC004262;BC019848;BF196424;CF272634;CN305928;CO248922;NM_001080543;NM_021231 AAC24305;AAC32903;AAD42868;AAH04262;AAH19848;AAI56485;AAI72549;AAX84551;BAG61789;NP_001074012;NP_067054;Q8WUQ7 Hs.128425 2132848;2132850 A005X06;G20563 C19orf29;FLJ17482;FLJ59622;NY-REN-24;fSAPc NY REN 24 antigen;NY-REN-24 antigen;cactin homolog;chromosome 19 open reading frame 29;functional spliceosome-associated protein c;renal carcinoma antigen NY-REN-24;uncharacterized protein C19orf29 APPROVED protein-coding ENSG00000105298 HGNC:29938 VALIDATED 7240978 CACYBPP2 calcyclin binding protein pseudogene 2 2 2 2 q32.1 178067854 178068535 - 184472166 184472847 - 183607438 183608119 - 22118674 644877 ABBA01062316;AC074182;AMYH02005379;NG_021541 1667408 SHGC-64074 pseudo HGNC:45123 INFERRED 1317719 CACUL1 CDK2-associated, cullin domain 1 ENCODES a protein that exhibits protein kinase binding; INVOLVED IN G1/S transition of mitotic cell cycle; positive regulation of cell proliferation; positive regulation of protein kinase activity; FOUND IN cullin-RING ubiquitin ligase complex (inferred); INTERACTS WITH torcetrapib; thioacetamide (ortholog) 10 10 10 q26.11 114171140 114245410 - 120433679 120514758 - 118674167 118755246 - 737633;6480464 12477932 14702039;15164054;15489334;19471022;19829063;21139048;22415352;22903020;22982681;23000965;23178685;23311997;23806693;24004834;24250222 143384 B4DVQ4;Q86Y37 ABBA01062929;ABBA01062930;ABBA01062931;AJ544771;AK026985;AK057742;AK097728;AK131008;AK301182;AL139407;AL157388;AMYH02023894;AMYH02023895;AY743663;BC038294;BG772719;BU623607;CH471066;NM_153810;XM_005269559;XR_246072 AAH38294;AAU89709;BAC05153;BAG62766;CAD67614;EAW49411;EAW49412;NP_722517;Q86Y37;XP_005269616 Hs.420024 1644307;1673949;1740015;1856142;2169309;2183695;5019741;5022322;5024039 A009N08;D10S1627;D11S2560;D16S325;G06209;G32677;RH69427;WI-16905;WI-17887 C10orf46;CAC1;FLJ40409;MGC33215 CDK2-associated and cullin domain-containing protein 1;Cdk-Associated Cullin1;OTTHUMP00000020585;OTTHUMP00000020586;chromosome 10 open reading frame 46;cullin;uncharacterized protein C10orf46 APPROVED protein-coding HGNC:23727 12576 VALIDATED 6481315 CADM2-AS1 CADM2 antisense RNA 1 3 3 p12.1 86041333 86077157 - 85992183 86028007 - 12477932 100874038 ABBA01031089;AC107024;AMYH02007196;BC032557;XR_245081;XR_249431;XR_251401 APPROVED ncrna ENSG00000239519 HGNC:41248 MODEL 8162731 CADM3-AS1 CADM3 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q23.2 132236020 132242433 - 159165775 159172212 - 159195985 159202422 - 8554872 19913121;20628086;22744181 100131825 ABBA01016620;AK124069;AL035403;AL050219;AMYH02002009;HG492827;NR_037870 BAC85765 Hs.701271 ncrna ENSG00000225670 HGNC:40812 VALIDATED 1313847 CADM2 cell adhesion molecule 2 This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 3 3 3 p12.1 85754715 86870332 + 85008133 86123579 + 84958982 86074429 + 6480464;8554872 12477932;14702039;16311015;19861958;20379614;20935630;21062931;21864505;22589738;22832960;23563607;23643812;24240726;8889548 253559 G3XHN4;Q8N3J6 AB646739;AB646740;AB646741;AB646742;AB646743;ABBA01031081;ABBA01031082;ABBA01031083;ABBA01031084;ABBA01031085;ABBA01031086;ABBA01031087;ABBA01031088;ABBA01031089;AC018361;AC023600;AC107024;AC107026;AC108700;AC117452;AC119726;AC119729;AC132660;AC134650;AF538973;AK090787;AK094943;AK095545;AK295885;AL833049;AL834270;AMYH02007183;AMYH02007184;AMYH02007185;AMYH02007186;AMYH02007187;AMYH02007188;AMYH02007189;AMYH02007190;AMYH02007191;AMYH02007192;AMYH02007193;AMYH02007194;AMYH02007195;AMYH02007196;AMYH02007197;BC040985;BC105999;BC112136;BC112138;BM674450;BX954585;CH471110;CQ893573;KF510850;NM_001167674;NM_001167675;NM_001256502;NM_001256503;NM_001256504;NM_001256505;NM_153184;XM_006713081;XM_006713082 AAI06000;AAI12137;AAI12139;AAN16368;BAG58681;BAK93302;BAK93303;BAK93304;BAK93305;BAK93306;CAD38945;CAH56314;CAH68708;EAW68874;EAW68875;NP_001161146;NP_001161147;NP_001243431;NP_001243432;NP_001243433;NP_001243434;NP_694854;Q8N3J6;XP_006713144;XP_006713145 Hs.164578 1337169;1339773;1342264;1659847;1660118;1673669;1679461;1682650;1688102;1693320;1694880;1705458;1707134;1715485;1720723;1720727;1733930;1740087;1749245;1754929;1789136;1849944;2125421;2127184;2130112;2131417;2151612;2154152;2155243;2164634;2175277;2176986;2180361;5092744 A005W32;A007K07;AFM161xg11;D3S1276;D3S1663;D3S2315;D3S2392;D3S2451;D3S2544;D3S3502;D3S4553;G16557;G32302;G42366;G44321;G59335;G59337;G65704;RH120985;RH12384;RH78551;RH78628;RH80056;RH99008;SHGC-110936;SHGC-141853;SHGC-77126;SHGC-77127;SHGC-81333;SHGC-83814;STS-H08139;UniSTS:73712;WI-18489;WI-21552 IGSF4D;MGC104534;MGC138341;MGC138343;NECL3;Necl-3;SynCAM 2;synCAM2 OTTHUMP00000213814;OTTHUMP00000213815;OTTHUMP00000213816;immunoglobulin superfamily member 4D;immunoglobulin superfamily, member 4D;nectin-like 3;nectin-like protein 3;synaptic cell adhesion molecule 2 APPROVED protein-coding ENSG00000175161 HGNC:29849 11046 609938 VALIDATED 1348167 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. [provided by RefSeq, Jul 2008] 2 2 2 p22-p21 27286585 27312981 + 27440258 27466660 + 27217390 27243792 + 1580863;2303530;2303540;2303532;5132586;5132591;5133412;5132587;6480464;6907045;8554872 13618893;1476792;15096496;2888462;2914957;3973436;6030068 11854437;11986331;12438317;12477932;12746293;14523024;14559996;15324660;15326225;15489334;15621215;15890648;16051665;16055720;16155188;16196087;16335966;16964243;17081983;17266347;18457437;18679823;18729074;18781797;18854154;19380743;19394292;19596686;1979741;19946888;20085233;20379614;20473970;20659789;21081666;21139048;21145461;21319273;21575865;21697133;21890473;21906983;21963094;21982950;21987572;22145905;22268729;22505724;22586326;22623428;22939629;23000965;23125841;23143245;23254330;23438482;23443559;23455922;23594158;23703321;23752268;24316846;24550385;24639526;24654937;24816145;25015289;25027693;2565865;2885743;4092695;8619816;9525610 790 F8VPD4;H7BZB3;H7C2E4;H7C3Z5;P27708 AB621827;ABBA01045199;AC013403;AC013413;AK226105;AMYH02003473;BC014178;BC065510;BM927624;BU541191;BU558264;CH471053;D78586;KF459621;M38561;NM_004341;XM_005264555;XM_005264556;XM_005264557;XM_005264558;XM_006712101 AAA51907;AAH14178;AAH65510;AAX93165;AAY24293;BAA11423;BAK64162;EAX00612;EAX00613;EAX00614;NP_004332;P27708;XP_005264612;XP_005264613;XP_005264614;XP_005264615;XP_006712164 Hs.377010 1712186;1792206;1793306;2181945;5024555;5121494 G54144;PMC139788P1;PMC207647P2;RH70745;SGC30858;WI-14618 CAD trifunctional protein;OTTHUMP00000122585;OTTHUMP00000201035;multifunctional protein CAD APPROVED protein-coding ENSG00000084774 HGNC:1424 06437 114010 REVIEWED 1312331 CADM4 cell adhesion molecule 4 INVOLVED IN cell adhesion (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (+)-catechin; tert-butyl hydroperoxide; trichostatin A 19 19 19 q13.31 40929016 40946485 - 44126519 44143991 - 43622367 43639839 - 6480464 11536053;12477932;16261159;16825666;19565570;20200953;21139048;21544807;21900206;23559354;23611113;23825401 199731 Q8NFZ8 ABBA01040863;AC005525;AF363368;AK313028;AMYH02036169;BC068457;BC113963;CH471126;NM_145296;XM_005258620 AAC32740;AAI13964;AAI40327;AAI41628;AAM60750;BAG35862;EAW57212;EAW57213;EAW57214;NP_660339;Q8NFZ8;XP_005258677 Hs.370984 1658758;2109427;2124171 D19S832;IGSF4C__6451;RH48989 IGSF4C;NECL4;Necl-4;TSLL2;synCAM4 TSLC1-like 2;TSLC1-like protein 2;immunoglobulin superfamily member 4C;immunoglobulin superfamily, member 4C;nectin-like 4;nectin-like protein 4 protein-coding ENSG00000105767 HGNC:30825 17141 609744 VALIDATED 1604175 CAGE1 cancer antigen 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; trichostatin A; thioacetamide (ortholog) 6 6 6 p24.3 8556649 8619686 - 7326887 7389976 - 7326654 7389709 - 6480464;8554872 12477932;12531476;14574404;14702039;15489334;16964403;17114284;17786288;24174534 285782 D6R9A7;D6RCC6;E7EUJ7;Q8TC20 ABBA01022040;ABBA01022041;AF414185;AK097760;AL139095;AMYH02013059;AMYH02013060;AMYH02013061;BC026188;BC026194;BC033545;CH471087;NM_001170692;NM_001170693;NM_205864 AAH26194;AAH33545;AAO47239;ABM83382;ABM86594;BAC05162;EAW55206;EAW55207;EAW55208;EAW55209;NP_001164163;NP_001164164;NP_995586;Q8TC20 Hs.721486 1663147;2145805 D8S1159;RH36530 CT3;CT95;CTAG3;FLJ40441;bA69L16.7 OTTHUMP00000015995;OTTHUMP00000015996;OTTHUMP00000221197;OTTHUMP00000221198;OTTHUMP00000221200;OTTHUMP00000221202;cancer-associated gene 1 protein;cancer/testis antigen 3;cancer/testis antigen 95;cancer/testis antigen gene 1 protein-coding ENSG00000164304 HGNC:21622 10511 608304 VALIDATED 6481314 CADM2-AS2 CADM2 antisense RNA 2 3 3 85849137 85877200 - 85799987 85828050 - 11329013;22832960 100874037 ABBA01031084;AC117452;AMYH02007191;BG200721;HG495830;NR_046752 Hs.570566 RP11-341J3.1 APPROVED ncrna ENSG00000241648 HGNC:41247 PREDICTED 1346732 CACYBP calcyclin binding protein The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q24-q25 148078240 148090832 + 174968571 174981163 + 174999435 175012027 + 2326117;2326146;6480464;6907045 16440310;18765951 11389839;11927578;12006993;12042313;12421809;12477932;12895292;14702039;15489334;16085652;16196087;17353931;17400182;18029348;18171983;18443365;18781797;18803400;19135240;19615732;19738201;19875381;20181957;20562859;20585948;20878073;21110948;21139048;21268134;21297076;21466614;21890473;21906983;21963094;21988832;22053931;22118674;22295074;22480271;22505724;22623428;22863883;22874833;22939629;22990118;23000965;23166591;23208506;23463283;23543800;24078263;24250222;24255178;25036637 27101 B2ZWH1;Q9HB71 ABBA01027873;AF057356;AF275803;AF314752;AK093425;AK294042;AK313278;AL035305;AMYH02002177;AW300675;AX058084;AY423723;BC005975;BC022352;BC067823;BC078151;BQ432793;CA951015;CH471067;KF510703;NG_029961;NM_001007214;NM_014412;XM_005245092;Z99127 AAC21458;AAG23817;AAG34170;AAH05975;AAH22352;AAH67823;AAH78151;AAS00486;BAG36086;BAG52713;BAG57394;CAA22910;CAC22475;EAW90982;EAW90983;NP_001007215;NP_055227;Q9HB71;XP_005245149 Hs.508524 1644145;1667408;1710524;2124321;2136931;2162904;2164939;5017568 CACYBP;D1S2592;RH64562;SHGC-31968;SHGC-64074;SHGC-75931;SHGC-75932;SHGC-86290 GIG5;MGC87971;PNAS-107;RP1-102G20.6;S100A6BP;SIP OTTHUMP00000032884;OTTHUMP00000032885;OTTHUMP00000201857;S100A6-binding protein;Siah-interacting protein (SIP);calcyclin-binding protein;growth-inhibiting gene 5 protein;hCacyBP APPROVED protein-coding ENSG00000116161 HGNC:30423 07316 606186 REVIEWED 1322220 CADM1 cell adhesion molecule 1 ENCODES a protein that exhibits receptor binding; PDZ domain binding (ortholog); protein homodimerization activity (ortholog); INVOLVED IN cell recognition; detection of stimulus; positive regulation of cytokine secretion; ASSOCIATED WITH Breast Neoplasms; Cervical Intraepithelial Neoplasia; Ovarian Neoplasms; FOUND IN extracellular vesicular exosome; plasma membrane; basolateral plasma membrane (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 11 11 11 q23.2 112198721 112530558 - 115039933 115375241 - 115173625 115504523 - 1580863;2289088;2289091;2289095;2289096;2289089;2289090;2296030;6480464;8554872 12079507;15589594;16532039;16814249;17009984;17260099;17428255 10610705;11279526;12050160;12112527;12202822;12234973;12432281;12477932;12716461;12759359;12826663;12920246;12925956;12942568;12973698;12975309;13679854;14559819;14633730;14639656;14970278;15184878;15231748;15471956;15535129;15741237;15781451;15811952;15905536;16083501;16108829;16205641;16303743;16311015;16394014;17018592;17130425;17300670;17326163;18084322;18332875;18471525;18498117;18559103;18684968;18726896;18922876;18957284;19115211;19371721;19561085;19643986;19653122;19783739;19835597;19854157;19913121;19995226;20190806;20215110;20340131;20375924;20379614;20570966;20628086;20677014;20709797;20838585;21045196;21067843;21081044;21131357;21139048;21190187;21271221;21329006;21389098;21436696;21526423;21643982;21880726;22173495;22207107;22237452;22289924;22392644;22429880;22438059;22528944;22547693;22706526;22851235;22863734;22926846;22940845;23028344;23047161;23063768;23136087;23142238;23176198;23251661;23301758;23310950;23330003;23456988;23503473;23504322;23530148;23541110;23620770;23812766;23871486;23907434;24092566;24445397;24465823;24483146;24722188 23705 A0A4Z1;F5H0H5;F5H125;F5H372;F5H8J9;H0YG94;Q9BY67;X5D7A8;X5D8W0;X5DQR8;X5DQS5 AB017563;AB094146;ABBA01039760;ABBA01039761;ABBA01039762;ABBA01039763;AF132811;AK075502;AK172730;AK315245;AL080181;AMYH02025606;AMYH02025607;AMYH02025608;AMYH02025609;AMYH02025610;AP000462;AP000465;AP003174;AP003179;AP005020;AX136299;AY309502;AY358334;BC035930;BC047021;BC125102;BC125103;BI915307;BM309987;BX641042;BX647110;CA447277;CA777709;CH471065;CR457157;CS019549;CS051335;EF444987;HC206622;HE586496;HE586497;HE586498;HE586499;HE586500;HE586501;HE586503;KC877463;KC877466;KC877467;KC877471;KF455524;KF455526;KF455527;KF510353;KF511123;KF511124;KF511125;KJ534791;KJ534792;KJ534793;KJ534794;KJ534795;KJ534796;KJ534797;NM_001098517;NM_001301043;NM_001301044;NM_001301045;NM_014333;XM_005271491;XM_005271492;XM_005271493;XM_005271494 AAF69029;AAH47021;AAI25103;AAI25104;AAQ81866;AAQ88700;ACA06003;ACA06004;AHW56431;AHW56432;AHW56433;AHW56434;AHW56435;AHW56436;AHW56437;BAA75822;BAC11657;BAC66178;CAC39791;CAE46024;CAG33438;CAI58842;CAI72162;CBI85480;CCD32610;CCD32611;CCD32612;CCD32613;CCD32614;CCD32615;CCD32617;EAW67256;EAW67257;EAW67258;EAW67259;EAW67260;NP_001091987;NP_001287972;NP_001287973;NP_001287974;NP_055148;Q9BY67;XP_005271548;XP_005271549;XP_005271550;XP_005271551 Hs.370510 1298102;1648013;1648700;1650814;1658206;1719075;1737731;1737739;1767897;1770956;1771335;1772266;1776499;1780256;1848851;1850449;1851350;1851976;2111824;2112322;2118026;2138486;2145896;2148007;2149180;2153786;2163949;2165191;2179931;2181289;2190899;5015961;5037552;5128209;7184936 2024;AFMA340WD1;C95578;C95582;C95583;C95588;C95596;C95603;C95606;C95619;C95631;C95632;C95641;C95642;D11S1077;D11S2038;D11S3323;D11S3337;D11S4502;D11S4636;D11S4693;D11S4897;D11S908;D15S1477;D8S2279;MARC_10475-10476:999705103:1;RH123254;RH47150;RH47303;RH65662;SHGC-152044;SHGC-154812;SHGC-31226;WI-20930 BL2;DKFZp686F1789;IGSF4;IGSF4A;MGC149785;MGC51880;NECL2;Necl-2;RA175;ST17;TSLC-1;TSLC1;sTSLC-1;sgIGSF;synCAM1 OTTHUMP00000238280;OTTHUMP00000238281;OTTHUMP00000238282;OTTHUMP00000238283;OTTHUMP00000238284;OTTHUMP00000238285;SYNCAM;TSLC1/Nectin-like 2/IGSF4;immunoglobulin superfamily member 4;immunoglobulin superfamily, member 4;immunoglobulin superfamily, member 4D variant 1;immunoglobulin superfamily, member 4D variant 2;nectin-like 2;nectin-like protein 2;spermatogenic immunoglobulin superfamily;synaptic cell adhesion molecule;truncated CADM1 protein;tumor suppressor in lung cancer 1 protein-coding ENSG00000182985 HGNC:5951 05746 605686 VALIDATED 1315991 CADM3 cell adhesion molecule 3 IGSF4B is a brain-specific protein related to the calcium-independent cell-cell adhesion molecules known as nectins (see PVRL3; MIM 607147) (Kakunaga et al., 2005 [PubMed 15741237]).[supplied by OMIM, Mar 2008] 1 1 1 q21.2-q22 132211622 132243171 + 159141377 159172932 + 159171587 159203142 + 6480464;8554872 11536053;11544254;12477932;12826663;12975309;14659875;14702039;15340161;15741237;15893517;16467305;16710414;17903293;18420026;18502984;18686605;19062177;19165527;19565570;20078932;20237496;20598232;21139048;21325282;22291609;22360420;24112238 57863 Q8N126 ABBA01016620;AF062733;AF363367;AF529206;AK001560;AK289541;AK308915;AL035403;AMYH02002009;AY046418;AY358332;AY663416;AY663417;AY663418;AY663419;AY663420;AY663421;AY663422;AY663423;AY663424;AY663425;AY663426;AY663427;AY663428;AY663429;AY663430;AY663431;AY663432;AY663433;BC033819;CH471121;CS019555;CS019557;DQ181553;DQ181554;DQ181555;DQ181556;DQ181557;DQ181558;DQ181559;DQ181560;DQ181561;DQ181562;DQ181563;DQ181564;DQ181565;DQ181566;DQ181567;HC206628;HC206630;NM_001127173;NM_021189 AAD17540;AAH33819;AAL02143;AAM60749;AAN75603;AAQ88698;AAU47274;AAU47277;AAU47280;AAU47283;AAU47286;AAU47289;AAU47292;AAU47295;AAU47298;AAU47301;AAU47304;AAU47307;AAU47310;AAU47313;AAU47316;AAU47319;AAU47322;AAU47325;ABA10402;ABA10405;ABA10408;ABA10411;ABA10414;ABA10417;ABA10420;ABA10423;ABA10426;ABA10429;ABA10432;ABA10435;ABA10438;ABA10441;ABA10444;ABM81774;ABM84928;BAA91756;BAF82230;CAI58844;CAI58845;CBI85482;CBI85483;EAW52792;EAW52793;EAW52794;NP_001120645;NP_067012;Q8N126 Hs.365689 1340905;1674852;1846882;2117930;2141228;2164682 A001Y21;D1S2635;D1S3501;RH11558;RH12336;STS-T65055 BIgR;FLJ10698;IGSF4B;NECL1;Necl-1;TSLL1;synCAM3 OTTHUMP00000035289;OTTHUMP00000035290;OTTHUMP00000035291;TSLC1-like 1;TSLC1-like protein 1;brain immunoglobulin receptor;dendritic cell nectin-like protein 1 short isoform;immunoglobulin superfamily member 4B;immunoglobulin superfamily, member 4B;nectin-like 1;nectin-like protein 1;synaptic cell adhesion molecule 3 APPROVED protein-coding ENSG00000162706 HGNC:17601 13733 609743 VALIDATED 1342691 CADPS2 Ca++-dependent secretion activator 2 This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 7 7 7 q31.3 116762799 117331572 - 121958478 122526813 - 122318424 122886759 - 6480464;8554872 10997877;12421765;12477932;12659812;14530279;14702039;14715936;15489334;15857609;16344560;17380209;19008227;19058789;19690564;20171287;20379614;21626674;22001167;24324551;24337577;24722188 93664 B7ZM57;C9IYE1;F8W8P5;H0Y8B5;H7BYR4;Q86UW7;X5D7B2;X5D8X0;X5DNG0 AB046811;ABBA01057742;ABBA01057743;ABBA01057744;ABBA01057745;ABBA01057746;ABBA01057747;ABBA01057748;AC004594;AC004838;AC004986;AC006009;AC015983;AC091438;AF401638;AK000768;AK025672;AK054853;AK126518;AL833058;AMYH02016672;AMYH02016673;AMYH02016674;AMYH02016675;AMYH02016676;AMYH02016677;AY264289;BC054339;BC136601;BC144278;BC144279;BX110721;CH236947;CH471070;DA118516;DA248542;DA323097;KF458579;KF458587;KJ534798;KJ534799;KJ534800;KJ534801;KJ534802;KJ534803;KJ534804;KJ534805;KJ535060;NG_016215;NM_001009571;NM_001167940;NM_017954;XM_005250695;XM_005250696;XM_005250697;XM_005250698;XM_005250699;XM_005250700;XM_005250701;XM_005250702;XM_005250703;XM_005250704;XM_005250705;XM_005250706;XM_005250707;XM_005250708 AAH54339;AAI36602;AAI44279;AAI44280;AAN38707;AAP22132;AHW56438;AHW56439;AHW56440;AHW56441;AHW56442;AHW56443;AHW56444;AHW56445;AHW56699;BAA91372;BAB13417;BAB15210;BAG51434;BAG54341;CAH56288;EAL24339;EAW83571;EAW83572;EAW83573;EAW83574;EAW83575;EAW83576;NP_001009571;NP_001161412;NP_060424;Q86UW7;XP_005250752;XP_005250753;XP_005250754;XP_005250755;XP_005250756;XP_005250757;XP_005250758;XP_005250759;XP_005250760;XP_005250761;XP_005250762;XP_005250763;XP_005250764;XP_005250765 Hs.649459 1338770;1341619;1646327;1651971;1664427;1706950;1710048;1710316;1714075;1721995;1724705;1752085;1769210;1771513;1774409;1786406;1788796;1796696;1850332;1851344;1852164;2113710;2116452;2126505;2132732;2134201;2134661;2142875;2147856;2158792;2165472;2168107;2169503;2180571;2184040;2187721;2187723;2187725;2189277;2189279;2189281;2189283;2189285;2189287;2189289;2189291;2189293;2189295;2189297;2189299;2189301;2189303;2189305;2189307;2189309;2189311;2189313;2189315;2189317;2189319;2189321;2189323;2189505;7186670 AB070023;D7S1550;D7S1906;D7S1960;D7S1982;D7S2177;D7S2219;D7S2486;D7S2529;D7S3210;D7S3211;D7S3213;D7S3214;D7S3215;D7S3216;D7S3217;D7S3218;D7S3219;D7S3220;D7S3221;D7S3222;D7S3223;D7S3224;D7S3225;D7S3226;D7S3227;D7S3228;D7S3229;D7S3230;D7S3231;D7S3232;D7S3233;D7S3234;D7S3235;D7S3236;D7S3237;D7S3238;D7S711;D7S731;G59883;GDB:1234292;GDB:1317866;GDB:1317954;GDB:1318270;GDB:1318464;NIB2049;RH119642;RH122556;RH137681;RH46936;RH48021;RH48144;RH65176;RNF133_1733r1;SGC38250;SHGC-106021;SHGC-171982;SHGC-32546;SHGC-80972;SHGC-82300;SHGC-82403;STS-AA026969;WI-14238 CAPS-2;FLJ40851;KIAA1591 Ca2+-dependent activator protein for secretion 2;OTTHUMP00000211454;OTTHUMP00000211455;OTTHUMP00000213045;calcium-dependent activator protein for secretion 2;calcium-dependent secretion activator 2 APPROVED protein-coding ENSG00000081803 HGNC:16018 12996 609978 REVIEWED 6480342 CAHM colon adenocarcinoma hypermethylated (non-protein coding) 6 6 163834097 163834982 - 163413065 163413950 - 24799664;8889548 100526820 ABBA01015111;AL356119;AMYH02014931;BG168587;BQ771676;BX381206;CA945055;NG_029604;NR_037593 Hs.644159 LINC00468 ncrna ENSG00000270419 HGNC:42860 615930 VALIDATED 1344966 CADPS Ca++-dependent secretion activator This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008] 3 3 3 p14.2 62401123 62879063 - 62384021 62861064 - 62398346 62875389 - 1299540;1580863;6480464;8554872 1516133 10574461;12168954;12421765;12477932;12659812;1429734;14530279;14702039;15489334;15857609;16169070;17984325;19913121;20379614;20628086;21601610;21697133;21798848;22566634;22747683;23382691;23801330;23934736;9289490;9525942;9697858 8618 F1T0E5;H0YFP0;H7C4K9;H7C4P2;H7C4T6;H7C538;H7C5J0;Q9ULU8 AB032947;AB593079;ABBA01024327;ABBA01024328;ABBA01024329;AC012519;AC092039;AC104161;AC124860;AF458662;AK000873;AK127506;AL833895;AMYH02006931;AMYH02006932;AMYH02006933;AMYH02006934;AMYH02006935;AMYH02006936;AMYH02006937;AMYH02006938;AMYH02006939;AMYH02006940;BC015754;BC029460;BC035100;BC072684;BC131731;BX647166;CH471055;NM_003716;NM_183393;NM_183394;R54020;U36448;XM_006713362;XM_006713363;XM_006713364;XM_006713365;XM_006713366;XM_006713367;XM_006713368;XM_006713369;XM_006713370;XM_006713371;XM_006713372;XM_006713373;XM_006713374;XM_006713375;XM_006713376;XM_006713377;XM_006713378 AAA79701;AAH15754;AAH29460;AAH72684;AAI31732;AAM61861;BAA86435;BAJ84019;CAD38751;EAW65405;EAW65406;EAW65407;EAW65408;EAW65409;EAW65410;EAW65411;NP_003707;NP_899630;NP_899631;Q9ULU8;XP_006713425;XP_006713426;XP_006713427;XP_006713428;XP_006713429;XP_006713430;XP_006713431;XP_006713432;XP_006713433;XP_006713434;XP_006713435;XP_006713436;XP_006713437;XP_006713438;XP_006713439;XP_006713440;XP_006713441 Hs.654933 1337419;1337606;1644042;1647282;1657287;1657876;1671482;1677466;1708592;1708800;1713229;1713511;1714245;1715409;1718699;1722711;1724479;1735284;1740143;1751091;1756377;1759443;1760261;1767833;1851309;1855738;2112746;2113736;2116208;2117026;2120244;2126251;2128538;2134199;2151060;2160057;2164161;2164163;2171591;2172893;2184634;2186021;5094776 A002A38;AB049865;AGAT128;CHLC.GATA61E08;D3S1312;D3S2865E;D3S2931E;D3S3068;D3S3119;D3S3395;D3S3506;D3S3566;D3S3913;D3S4010;D3S4440;G17282;G19863;G60440;RH119901;RH120240;RH120537;RH120604;RH122405;RH123040;RH12341;RH47457;RH78270;RH91169;SHGC-104973;SHGC-132569;SHGC-143347;SHGC-150757;SHGC-31932;SHGC-36112;SHGC-77045;SHGC-77057;SHGC-77062;SHGC-77085;SHGC-81061;SHGC-85085;STS-T59032;WI-12448;WI-20079 CADPS1;CAPS;CAPS-1;CAPS1;KIAA1121 Ca2+-dependent activator protein for secretion;Ca2+-dependent secretion activator;Ca2+-regulated cytoskeletal protein;OTTHUMP00000213223;OTTHUMP00000213348;OTTHUMP00000213351;calcium-dependent activator protein for secretion 1;calcium-dependent secretion activator 1 APPROVED protein-coding ENSG00000163618 HGNC:1426 05236 604667 REVIEWED 732083 CALB1 calbindin 1, 28kDa Calbindin is a calcium-binding protein belonging to the troponin C superfamily. It was originally described as a 27-kD protein induced by vitamin D in the duodenum of the chick. In the brain, its synthesis is independent of vitamin-D-derived hormones. Calbindin contains 4 active calcium-binding domains, and 2 modified domains that presumably have lost their calcium-binding capacity. The neurons in brains of patients with Huntington disease are calbindin-depleted. [provided by RefSeq, Jul 2008] 8 8 8 q21.3 87265760 87290030 - 91070836 91095107 - 90058610 90082879 - 704404;633843;704383;1580863;6480464;7204685;8554872 12204357;12372637;20943758 10841767;11994015;12176979;12477932;12520521;12606474;12684061;14702039;1537319;15489334;15641794;15741335;16421571;16763551;16928804;1713126;17156698;17257825;17442486;18259068;18359862;18568448;18587625;19056867;1906795;19674066;20054781;20098747;20214988;20452033;21364983;21565611;22272358;22483853;23715974;2565876;2897519;3691519;7943215;8739042;9373717 793 E5RG14;E5RIZ8;P05937 ABBA01037403;AC004612;AC123779;AF068862;AF070717;AK054881;AK295585;AK312491;AK315959;AMYH02018395;BC006478;BC020864;BX537530;CH471060;M19878;M19879;NM_004929;S46006;X06661 AAA98991;AAA98992;AAB19408;AAC14672;AAC25277;AAC62230;AAH06478;AAH20864;BAG35393;BAG51438;BAH12116;BAH14330;CAA29860;EAW91665;EAW91666;NP_004920;P05937 Hs.65425 1653399;1657965;2119893;2185604;2218332 CALB1_4495;D8S1947;SGC30430;SHGC-30996;WI-16365 CALB;D-28K OTTHUMP00000166027;OTTHUMP00000225441;RTVL-H protein;calbindin;calbindin 1;calbindin 1, (28kD);calbindin D28;vitamin D-dependent calcium-binding protein, avian-type APPROVED protein-coding ENSG00000104327 HGNC:1434 00229 114050 REVIEWED 731363 CALB2 calbindin 2 This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] 16 16 16 q22.2 55708128 55740202 + 71392616 71424341 + 71358713 71390438 + 1580863;2315881;6480464;7204685 18604736;20943758 10942575;11642722;12051635;12064772;12359331;12477932;12542677;15285029;15489334;15950053;16270201;16289944;16344560;16415795;17535091;18029348;18091323;18189312;18214032;18223328;18269580;18297277;18801393;18992917;1906795;19435792;19450707;19550372;19648883;19854615;19998412;2001709;20138841;20175889;20509881;20576695;2071140;21139048;21629658;22011651;22020045;22272358;22343111;22360420;22555304;22796338;22891683;23011824;23033479;23075894;23595591;23701779;23732647;23899067;23995573;24012099;24262018;24294384;24322014;25119007;2612220;2618861;7607211;7643192;8125298;8889548;9370058;9452956 794 A6NER6;H3BMN5;H3BN14;P22676 ABBA01016777;ABBA01032109;ABBA01032110;AC106736;AK222495;AK222648;AK291096;AMYH02032311;AMYH02032312;BC015484;BM664507;BX116479;CH471166;DA060805;KF456204;NM_001740;NM_007088;NR_027910;X56667;X56668 AAH15484;BAD96215;BAD96368;BAF83785;CAA39991;CAA39992;EAW59240;EAW59241;EAW59242;EAW59243;EAW59244;NP_001731;NP_009019;P22676 Hs.106857 1341076;1741349;1763963;2134515 D16S681;GDB:180914;SHGC-11961;SHGC-147616 CAB29;CAL2;CR 29 kDa calbindin;OTTHUMP00000174922;calbindin 2, (29kD, calretinin);calbindin 2, 29kDa (calretinin);calbindin D29K;calretinin APPROVED protein-coding ENSG00000172137 HGNC:1435 00230 114051 REVIEWED 730992 CALCA calcitonin-related polypeptide alpha This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator and as an antimicrobial peptide while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2014] 11 11 11 p15.2 15115335 15120952 - 14988214 14993879 - 14966668 14972333 - 1580863;734677;2314032;2314035;2314033;2314034;5684343;5684013;5684010;5684360;5684019;5684020;6480464;5684017;5684345;7204486;7204479;7204487;7205498;8657122 15286264;15583078;15928032;17151309;17934713;19152794;19194162;19563774;19684430;19816194;19900492;20959432;21181115;21195698;21718723;21958434;21964254;2502220 10642343;10754330;10822112;10882736;11014233;11185743;11317366;11337490;11389975;11803621;12036966;12063634;12198603;12213903;12220731;12231407;12234182;12359227;12369791;12446725;12477932;12517415;12529288;12540523;12590613;12594852;12728303;12871824;12917321;1318039;1326102;14586070;14627864;14654229;14668209;14684361;14722252;14745805;14759258;14984255;15155765;15168342;15203218;15248232;15300632;15319367;15449935;15489334;15621724;15696922;15761041;15761654;15784626;15880427;16014619;16236878;16386179;16439457;16511394;16531504;16574742;16597919;16611736;16710309;16712930;16720289;16840549;16890288;16904178;16996466;17026622;17038199;17087112;17101796;17123735;17149558;17207965;17241109;17251226;17267696;17381353;17441790;17481780;17485015;17535749;17552872;17558349;1761559;17669797;17676478;17689535;17710246;17785463;17941085;17983652;18000879;18039931;18057382;18167349;18180663;18197882;18211417;18240029;18295515;18384419;18403669;18525431;18556380;18574663;18577758;18603306;18626012;18779512;18784182;18941191;18953261;18959118;19078972;19086053;19236383;19282810;19299090;19440016;19447044;19453261;19484659;19485922;19541012;19541585;19543500;19589278;19623026;19685709;19715516;19736013;19797133;19829249;1988044;19909213;19913121;20010500;2001366;20046084;20131075;20143189;20146868;20146986;20173430;20214413;20233513;20375903;2039456;20441469;20530033;20595156;20628086;20654671;20654748;20699253;20803037;20805714;20832068;20890583;20929576;20930646;21078153;21083886;21211657;21216873;21219690;21289592;21352816;21391919;21423046;21457239;21541027;21550738;21658317;21703310;21778801;21843355;21937947;21996233;22019953;22074408;22079264;22149667;22200484;22207498;22208649;22233274;22371911;22399852;22429353;22550867;22561677;22573121;22607374;22631226;22652631;22677443;22685586;22819536;22898635;22960196;22961239;23010746;23086568;23118979;23123709;23128457;23214280;23237777;23313519;23327335;23356193;23436675;23461295;23490535;23510625;23519568;23552643;23575548;23580106;23682219;23682226;23702052;23708553;23722301;23731651;23799041;23813138;23835994;23968948;23975872;24012914;24065474;24081951;2408883;24125506;24135723;24140435;24315546;24363525;24379064;25055485;2571128;2578663;2983422;3001670;3034287;3259294;3266556;3485540;3492492;3549095;3872459;5760861;6132180;6148938;6327497;6546550;6609312;6610687;8078488;8405394;8468047;8626685;8940110;9620797;9685362 796 P01258;P06881 A15601;ABBA01061097;AC090835;AMYH02024361;BC069684;BC069704;BC069760;BC069778;BC093753;BC101599;BC143562;BF447272;BF942024;BX094781;CB048118;CD612754;CH471064;DQ080435;FB571423;FB571425;FB571427;FO082042;K03512;K03513;M12666;M12667;M26094;M26095;M28637;M64486;NG_015960;NM_001033952;NM_001033953;NM_001741;NR_125898;X00356;X02330;X03662;X15943;XM_005253134 AAA35501;AAA51912;AAA51913;AAA51914;AAA52011;AAA52012;AAA52124;AAA58403;AAH69684;AAH69704;AAH69760;AAH69778;AAH93753;AAI01600;AAI43563;AAY68212;ADQ32890;CAA01243;CAA25103;CAA26189;CAA26190;CAA27299;CAA34070;CAR95129;CAR95130;CAR95131;EAW68468;EAW68469;NP_001029124;NP_001029125;NP_001732;P01258;P06881;XP_005253191 Hs.37058 1694478;1742501;2127998;2128812;2217100;5111567 CALCA_3026;D11S4427;G06648;G42969;GDB:197828;STS-X15943 CALC1;CGRP;CGRP-I;CGRP1;CT;KC;MGC126648 OTTHUMP00000216318;OTTHUMP00000216319;OTTHUMP00000216320;OTTHUMP00000216321;alpha-type CGRP;calcitonin;calcitonin 1;calcitonin gene-related peptide 1;calcitonin gene-related peptide I;calcitonin/calcitonin-related polypeptide, alpha;calcitonin; calcitonin gene-related peptide 1;katacalcin APPROVED protein-coding ENSG00000110680 HGNC:1437 00238 114130 REVIEWED 1601886 CALCOCO2 calcium binding and coiled-coil domain 2 This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 17 17 17 q21.32 43362488 43396512 + 46908350 46942607 + 48830988 48865245 + 6480464 12033769;12477932;12869526;14747555;15231748;16189514;16969126;17207965;17635994;18029348;18330356;18985028;19285159;19820708;19946888;21079414;21139048;21552525;21565611;21646350;21890473;21903422;21906983;21963094;21964925;21988832;22053931;22505724;23000965;23022382;23143396;23209807;23386746;23503661;23511477;23624108;24457600;24722188;24816145;7540613;8125298;9230084 10241 D6RBF9;D6RBI4;D6REB0;D6RF70;D6RJE7;H0Y9G3;H0YBP4;I3L493;I3L4E1;Q13137 ABBA01041177;ABBA01041178;ABBA01041179;ABBA01041180;AC068531;AF085965;AK222666;AK223227;AK293137;AK293329;AK298177;AK303313;AK304024;AK314796;AL042638;AL046722;AMYH02033546;AMYH02033547;AMYH02033548;AMYH02033549;BC004130;BC015893;BE315542;BG773301;BU620013;CH471109;CR456763;NM_001261390;NM_001261391;NM_001261393;NM_001261395;NM_005831;U22897 AAA75297;AAH04130;AAH15893;ADQ32739;ADZ15727;BAD96386;BAD96947;BAG37327;BAG56685;BAG56845;BAG60448;BAG64382;BAG64939;CAG33044;EAW94707;EAW94708;NP_001248319;NP_001248320;NP_001248322;NP_001248324;NP_005822;Q13137 Hs.514920 1645852;1649587;1769192;1769385;2148569;2152890;5015961 D15S1477;RH48296;SGC32799;SGC34389;SHGC-33986;STS-U22897;WI-11586 MGC17318;NDP52 OTTHUMP00000218344;OTTHUMP00000218345;OTTHUMP00000218346;OTTHUMP00000218347;OTTHUMP00000218348;OTTHUMP00000218349;OTTHUMP00000218351;antigen nuclear dot 52 kDa protein;calcium-binding and coiled-coil domain-containing protein 2;nuclear domain 10 protein 52;nuclear domain 10 protein NDP52;nuclear dot protein 52 APPROVED protein-coding ENSG00000136436 HGNC:29912 06846 604587 REVIEWED 1351311 CALCP calcitonin pseudogene 11 11 11 p15.1 15056164 15056664 + 14929045 14929545 + 14907499 14907999 + 2898385;8468047 798 ABBA01061099;AC090835;AMYH02024361;NG_001088;X07964;X07965 2139647 CALC-P CALC3 pseudo HGNC:1439 INFERRED 1350431 CALCB calcitonin-related polypeptide beta ENCODES a protein that exhibits hormone activity (inferred); neuropeptide hormone activity (inferred); INVOLVED IN cellular calcium ion homeostasis (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH arsenite(3-); capsaicin; cisplatin 11 11 11 p15.2-p15.1 15222390 15227421 + 15095143 15103888 + 15073597 15082342 + 1580863;6480464;8554872 11803621;12036966;12477932;1318039;14702039;15489334;15761041;18240029;18577758;19086053;19192276;21641113;2322288;2985435;3492393;3492492;3493259;6091915;8468047 797 E7ESF5;P10092 ABBA01061097;AC090744;AI937230;AK054728;AK291188;AMYH02024361;BC092468;BI668461;CH471064;M28640;M28641;NM_000728;X02404;X04855;X04861;XM_005253135 AAH92468;BAF83877;CAA26249;CAC05295;EAW68466;EAW68467;NP_000719;P10092;XP_005253192 Hs.534305 1742567;1854927 D11S4626;GDB:197895 CALC2;CGRP-II;CGRP2;FLJ30166 OTTHUMP00000227061;OTTHUMP00000231700;beta-CGRP;beta-type CGRP;calcitonin 2;calcitonin gene-related peptide 2;calcitonin gene-related peptide II;calcitonin-related polypeptide, beta protein-coding ENSG00000175868 HGNC:1438 11742 114160 VALIDATED 731272 CALCR calcitonin receptor This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 7 7 7 q21.3 87758299 87908414 - 93053799 93204042 - 93424487 93574730 - 704404;1580863;6480464;7240710;8554872 10385705;10570950;10865224;10882736;11136533;11250927;11298188;11353946;11464063;11560994;11858573;12016463;12036966;12147682;12375338;12383251;12397072;12477932;12517415;12531889;12565884;12690205;12771454;12821648;12853948;12905735;1331173;14583624;14614653;14722252;15086532;15155765;15279076;15489334;15490304;15563840;15670850;15856322;15860547;15929987;15966503;16280328;16363366;16412323;16713399;17487556;17709929;17714780;18240029;18622089;18676680;18923429;19170196;19255718;19445988;19447889;19453261;19625176;19692168;19903822;19913121;19946674;20424473;20654748;20869948;20961463;21033393;21462477;22335784;23137636;23202124;23820954;4961748;7588285;7619207;7720653;7733946;7769107;7789182;7961748;8078488;8143880;9571205;9694898;9817931 799 A4D1G6;P30988 AB022177;AB022178;ABBA01045790;ABBA01045791;AC003078;AC005024;AJ831406;AJ831407;AK313996;AMYH02016279;AMYH02016280;AMYH02016281;AY430048;BC069611;BC075028;CH236949;CH471091;FN994993;FN994994;FN994995;FN994996;L00587;NG_013005;NM_001164737;NM_001164738;NM_001742;S77876;U26553;U26554;X69920;X82466 AAA35640;AAB83945;AAC50300;AAC50301;AAD14268;AAH69611;AAH75028;AAR06949;BAA86928;BAA86929;BAG36708;CAA49541;CAA57849;CAH40796;CAH40797;CBN80565;CBN80566;CBN80567;CBN80568;EAL24142;EAW76813;EAW76814;NP_001158209;NP_001158210;NP_001733;P30988 Hs.489127 1721791;1786260;1857176;2110295;2146322;2169611;2182509 CALCR;CALCR_3944;D7S2736;G59766;GDB:1317880;GDB:1317942;SHGC-144374 CRT;CT-R;CTR;CTR1 OTTHUMP00000162535;OTTHUMP00000208683;OTTHUMP00000208686 1643401 BMD1_H APPROVED protein-coding ENSG00000004948 HGNC:1440 00239 114131;166710 REVIEWED 1317957 CALHM2 calcium homeostasis modulator 2 INVOLVED IN ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; elemental selenium 10 10 10 q24.33 98946475 98952094 - 105206543 105212162 - 103446786 103452650 - 1580863;6480464;8554872 12477932;14702039;15164054;15489334;16344560;16385451;18585350;20164573;23974872;8619474;9110174 51063 Q9HA72 ABBA01063099;ABBA01063100;AF131810;AK022195;AL139339;AMYH02023724;AX878938;BC000039;CA432041;CH471066;DB109582;NM_015916;NR_024552;NR_046344;XM_006717877;XM_006717878;XM_006717879;XM_006717880;XM_006717881;XM_006717882;XM_006717883;XM_006717884 AAD20050;AAH00039;BAB13983;CAE90307;EAW49633;EAW49634;EAW49635;EAW49636;EAW49637;EAW49638;NP_057000;Q9HA72;XP_006717940;XP_006717941;XP_006717942;XP_006717943;XP_006717944;XP_006717945;XP_006717946;XP_006717947 Hs.241545 1661779;1681967;1771680;1848742;2168329 D10S1325E;D10S2276;NIB223;RH11327;RH92378 FAM26B OTTHUMP00000020411;OTTHUMP00000020412;calcium homeostasis modulator protein 2;family with sequence similarity 26, member B protein-coding ENSG00000138172 HGNC:23493 13301 612235 VALIDATED 731717 CALCOCO1 calcium binding and coiled-coil domain 1 ENCODES a protein that exhibits armadillo repeat domain binding; beta-catenin binding; ligand-dependent nuclear receptor transcription coactivator activity; INVOLVED IN positive regulation of transcription, DNA-templated; intracellular steroid hormone receptor signaling pathway (ortholog); signal transduction (ortholog); PARTICIPATES IN estrogen signaling pathway; FOUND IN cytoplasm; intracellular membrane-bounded organelle; nucleus; INTERACTS WITH 17beta-estradiol; aflatoxin B1; dasatinib (anhydrous) 12 12 12 q13.13 53754817 53771222 - 54104902 54121307 - 53711118 53727523 - 5128512;6480464 16394250 10819331;11076863;11230166;11256614;12477932;12601173;12975309;14702039;15489336;15522220;15851553;16169070;16189514;16344550;16344560;16381901;16713569;16717280;16931570;18029348;18854154;19165232;19183483;19953087;20211142;20360068;21832049;21988832;24816145;8125298 57658 F8VPN1;F8VQE3;F8VRQ9;F8VUB3;F8VWP8;F8VXS2;F8VZI3;F8W0X2;H3BRW8;Q9P1Z2 AB040969;ABBA01008358;ABBA01008359;AC076968;AF370415;AK027881;AK092788;AK122773;AK222646;AK294424;AK296497;AK309199;AK315578;AL136895;AMYH02026528;AY211909;AY358397;AY563137;BC003177;BX538208;CD723746;CH471054;CR533567;DB060684;NM_001143682;NM_020898;NR_026554;XM_006719523 AAH03177;AAO65163;AAQ15251;AAQ88763;AAT68474;BAA96060;BAB55428;BAG52609;BAG53720;BAG57671;BAG59131;CAB66829;CAD98068;CAG38598;CAL38131;EAW96727;EAW96728;EAW96729;EAW96730;EAW96731;EAW96732;EAW96733;NP_001137154;NP_065949;Q9P1Z2;XP_006719586 Hs.156667 1687219;2142302;2143136;5021680 RH8151;STS-T71651;WI-11261;ksks136 KIAA1536;PP13275 Cocoa;OTTHUMP00000242802;OTTHUMP00000242803;OTTHUMP00000242804;OTTHUMP00000242924;OTTHUMP00000242925;calcium-binding and coiled-coil domain-containing protein 1;calphoglin;coiled-coil coactivator protein;coiled-coil leucine zipper coactivator 1;inorganic pyrophosphatase activator;sarcoma antigen NY-SAR-3 protein-coding ENSG00000012822 HGNC:29306 13868 VALIDATED 1347189 CALHM3 calcium homeostasis modulator 3 INVOLVED IN ion transport (inferred); FOUND IN integral component of membrane (inferred) 10 10 10 q24.33 98972496 98978932 - 105232561 105238997 - 103472804 103479240 - 12477932;15164054;15489334;16385451;18585350;20164573;23974872 119395 Q86XJ0 ABBA01063099;AL139339;AMYH02023724;BC039499;BC043367;NM_001129742 AAH39499;AAH43367;ADR82711;NP_001123214;Q86XJ0 Hs.364624 FAM26A;bA225H22.7 OTTHUMP00000020410;calcium homeostasis modulator protein 3;family with sequence similarity 26, member A protein-coding ENSG00000183128 HGNC:23458 13300 VALIDATED 1603161 CALHM1 calcium homeostasis modulator 1 This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010] 10 10 10 q24.33 98953076 98958583 - 105213144 105218648 - 103453387 103458891 - 6480464;8554872 12477932;15164054;15489334;18585350;18667147;19038093;19070563;19191331;19191332;19472444;19545933;19655363;19944073;20005921;20061624;20164573;20164592;20164602;20534741;20574532;20592574;20634593;20847397;21378601;21439911;21574960;21629967;22874670;23300080;23345406;23467090;23884934;23974872;24069280 255022 Q8IU99 ABBA01063099;AL139339;AMYH02023724;BC036193;BC036208;CH471066;NG_016855;NM_001001412 AAH36193;AAH36208;ADZ15984;EAW49632;NP_001001412;Q8IU99 Hs.680365 1782028 SHGC-149649 FAM26C;MGC39514;MGC39617 OTTHUMP00000020413;calcium homeostasis modulator protein 1;family with sequence similarity 26, member C APPROVED protein-coding ENSG00000185933 HGNC:23494 16879 612234 REVIEWED 733108 CALCRL calcitonin receptor-like ENCODES a protein that exhibits adrenomedullin receptor activity; protein transporter activity; INVOLVED IN angiogenesis; calcium ion transport; cAMP biosynthetic process; FOUND IN endoplasmic reticulum; endosome; lysosome; INTERACTS WITH 1-chloro-2,4-dinitrobenzene; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; bisphenol A 2 2 2 q32.1 181804216 181909138 - 188206690 188313021 - 187341963 187448294 - 1580863;6480464 10217420;10767413;10772950;10882736;10903324;11387328;11389975;11420389;11535606;11693189;11814625;11921352;11937264;11973435;12036966;12084528;12093471;12128288;12213903;12234182;12419522;12490608;12538603;12574158;12630808;12684503;12684703;12824306;14668209;14722252;15245870;15300632;15340161;15613468;15641806;15797661;16293613;16344560;16410241;16495482;16622024;17067815;17310067;17503773;17675298;17785463;18039931;18198792;18240029;19210874;19394311;19581316;19598235;19898635;19903822;19913063;20074556;20379614;20424473;20946927;20954838;21703310;22102369;22142144;22208649;22484227;22933837;23969937;24047872;24169318;24199627;2826160;3001670;7818539;8626685;9620797;9876047 10203 B8ZZJ4;D3DPG9;E7EN01;Q16602 AA436933;AA961493;ABBA01062350;AC007319;AC074020;AK291630;AK292998;AL602685;AMYH02005412;AY389506;BQ002778;CB270158;CH471058;DA097876;DA215003;DA217003;DA883991;DQ280491;KF456755;L76380;NM_001271751;NM_005795;U17473;XM_005246231;XM_005246232;XM_005246234 AAA62158;AAC41994;AAI56828;AAQ91332;AAY14806;AAY14996;ABC16643;BAF84319;BAF85687;EAX10925;EAX10926;NP_001258680;NP_005786;Q16602;XP_005246288;XP_005246289;XP_005246291 Hs.470882;Hs.744587 1338110;1661519;1669962;1705368;1715751;1719717;1734754;1747981;1751481;1849993;2108713;2161781;2166799;5014051;5022200;5022651;5093136;7186944 A006O27;A009H16;CALCRL_7967;D11S2921;D2S152;D2S1541E;D8S2278;G32541;G66836;L18426;RH119322;RH123547;RH70468;SGC31527;SHGC-105313;SHGC-34224;SHGC-83539 CGRPR;CRLR CGRP type 1 receptor;OTTHUMP00000163474;OTTHUMP00000205433;OTTHUMP00000205434;calcitonin gene-related peptide type 1 receptor;calcitonin receptor-like receptor protein-coding ENSG00000064989 HGNC:16709 11809 114190 VALIDATED 1350868 CALM2P3 calmodulin 2 pseudogene 3 13 13 13 q14.11 22802541 22803177 - 41744724 41745342 - 41170588 41171206 - 1999288 807 ABBA01021276;AL354696;AMYH02027917;NG_004858;X52956 pseudo HGNC:1448 INFERRED 1345562 CALM1P1 calmodulin 1 (phosphorylase kinase, delta) pseudogene 1 X X X q21.33 95279440 95279547 + 94754807 94754914 + 95499808 95499915 + 24244333;2885258;7925473 802 ABBA01064717;AL022161;AMYH02039997;NG_001089;U12435 1702076 DXS1398 CALML1 pseudo HGNC:1443 INFERRED 1353740 CALM2P1 calmodulin 2 pseudogene 1 17 17 17 q24.3 64809189 64810303 + 68237388 68238519 + 70241247 70242378 + 2717417 100128390 ABBA01028923;AC005242;AMYH02033901;NG_002716;X13907 1742223 GDB:193857 pseudo HGNC:1446 INFERRED 735369 CALM1 calmodulin 1 (phosphorylase kinase, delta) This gene encodes a member of the EF-hand calcium-binding protein family. It is one of three genes which encode an identical calcium binding protein which is one of the four subunits of phosphorylase kinase. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 14 14 14 q32.11 70910477 70921767 + 90863327 90874619 + 90396983 90408275 + 1300048;2305981;6480464;6892953;6484113;6907045;7204676;7204677;7240705;7240708;2311420;8699517;8554872;7240710 10487978;10884684;16054095;18083096;21216827;22717267;23091085 10026195;10026200;10075657;10075700;10088721;10333484;10411641;10416864;10488094;10547355;10625668;10681496;10692436;10747990;10748158;10757985;10816571;10823944;10827182;10852921;10860555;10880439;10893241;10899953;11054265;11072229;11171103;11178895;11248124;11278607;11286509;11323678;11395482;11397791;11448995;11457836;11585916;11734550;11736632;11741295;11807557;11811958;11827172;11847276;11953448;11981030;11984006;12006621;12032157;12034722;12051765;12135876;12153558;12202484;12221128;12223552;12358748;12408866;12446675;12475216;12477932;12509414;12556500;12594225;12610000;12626507;12626508;12715898;12724311;12727204;12805215;12808128;12809501;12821674;12901717;12925680;1332771;14551202;14594800;14613930;14695896;14960328;14985437;15048887;15087444;15104175;15147735;15161933;1519061;1520270;15229223;15316014;1544444;15494036;15522886;15583004;15632291;15664518;15670850;15746150;15746172;15746192;15806159;15817490;15840729;15851513;15902271;15990872;16013055;16030015;16051151;16051665;16084495;16127172;16154564;16229872;16258073;16299511;16338416;16344560;16359877;16512683;16522924;1660262;16613843;16627785;16760425;16799092;17046994;17202341;17314412;17379601;17550899;17568776;17569884;17580302;17654480;17696464;17884685;1790714;17942410;17975119;18001530;18070603;18178620;18370588;18452398;18553937;18567582;1872871;18768750;18940010;18989758;19023099;19034380;19080622;19133300;19190083;19322201;19358819;19596235;19614740;19615732;19658100;19667195;19855925;19913121;20012528;20103772;20301466;20468064;20488189;20562859;20618440;20628086;2062825;20639865;20705923;20738160;20876399;20946164;20956522;21047202;21102557;21124984;21145461;21150319;21167176;2123288;21372285;21439835;21555518;2161834;21640070;21664913;21726808;21730051;21799007;21901608;21963094;21988832;22004035;22009783;22009847;22044025;22100452;2223880;22266860;22295092;22323446;22342729;22363329;22437832;22451665;22486744;22505724;22588125;22767601;22768143;22779921;22801425;22803592;22856685;22939629;22996592;23019329;23040497;23077317;23152621;23159936;23235156;23285036;23300090;23322042;23352230;23370391;23388215;23398456;23437200;23438482;23457304;23552119;23624269;23658780;23662433;23705972;23743201;23755207;23760276;23798571;23831686;23838429;23967355;24032677;24088894;24419375;2445749;24457600;24500712;24530797;2455687;24816145;2487274;2507540;2853949;3111527;3350007;3472906;6385987;6847627;7490111;7525583;7559563;7593266;7607248;7642608;7836475;7887964;7925473;7947686;8206911;8226798;8312049;8314583;8486648;8573130;8625412;8626479;8631777;8639568;8663089;8670801;8756646;8769426;8780394;8824319;8862395;8872303;8900147;8901523;9003189;9009191;9092566;9096366;9115241;9188503;9202019;9278050;9282777;9341188;9362478;9374536;9490638;9512352;9658102;9677319;9681195;9728925;9753452;9774336;9822657;9837900;9923700;9952395 801 B4DJ51;E7ETZ0;G3V226;G3V361;G3V479;P62158 ABBA01030501;AC006536;AI651063;AK289937;AL512791;AMYH02029725;AMYH02029726;AU122722;AY189287;BC000454;BC007965;BC008597;BC011834;BC042831;BC047523;BT006818;BX479707;BX482177;BX537677;BX648223;CH471061;M27319;NG_013338;NM_006888;U12022;U16850;U16851;XM_006720258 AAA35635;AAB60644;AAD45181;AAH00454;AAH07965;AAH08597;AAH11834;AAO86731;AAP35464;BAF82626;EAW81427;EAW81428;NP_008819;P62158;XP_006720321 Hs.282410 1658699;1666022;1712188;1730279;1730341;1772524;1788760;1790313;2116051;2116053;2130182;2134446;2144055;2150520;2159826;2184383;2190511;5016476;5017841;7184691;7184708;7186388 1928;CALM1;D14S1231;D14S642E;D14S89E;D14S901;D14S98E;EST13B3;G06214;G54145;GDB:433805;IB3608;RH11167;RH11243;RH130082;RH70561;SHGC-30527;SSC3C06;WI-18834 CALM2;CALM3;CALML2;CAMI;CPVT4;DD132;PHKD;caM OTTHUMP00000244938;OTTHUMP00000244939;OTTHUMP00000244940;OTTHUMP00000244941;OTTHUMP00000244942;calmodulin;calmodulin 1;phosphorylase kinase, delta subunit;prepro-calmodulin 1 APPROVED protein-coding ENSG00000198668 HGNC:1442 00241 114180;614916 REVIEWED 5129008 CALM2P4 calmodulin 2 pseudogene 4 13 13 13 q32.2 80137079 80137577 - 99293063 99293561 - 98640809 98641307 - 643193 ABBA01027136;AL356423;AMYH02028579;NG_011335 2144817 G17682 pseudo HGNC:39661 INFERRED 730856 CALD1 caldesmon 1 This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 7 7 7 q33 129201597 129392887 + 134464164 134655480 + 134779413 134970729 + 1580863;2314036;6480464 10644879 10559276;10766836;10919986;11098082;11736632;11759055;11894847;11996092;12477932;12613668;14627618;1465449;14702039;15047636;15146197;15161654;15226374;15456752;15489334;15521070;1555769;15958622;16009940;1601129;16115893;16130169;16344560;16800003;17081983;17582218;17620599;17631293;18029348;18353764;18772142;1885618;19582387;19764806;19834610;19875381;19889635;20360068;20379614;2050683;20801058;20811636;21044950;21131830;21139048;21184254;21626272;21738699;22316291;22863883;22939629;23000965;23196794;23265641;23398456;23418348;23575144;24255178;24332808;8307018;8581978;8889548;9003189;9415999 800 C9J813;C9JE79;C9JEK3;E7EX44;E9PGZ1;F8WE61;Q05682 AB062484;ABBA01001111;ABBA01001112;AC019014;AC083870;AF247820;AF315788;AI926727;AJ223812;AK021691;AK022222;AK022456;AK289686;AK298524;AK300282;AK304729;AL601004;AMYH02016810;AMYH02016811;AU134367;BC005006;BC014035;BC015839;BC040354;BC061926;BF675655;BF965359;BQ010124;BU683034;BX538339;BX640946;BX648808;BX649088;CA433571;CA447404;CD359921;CH236950;CH471070;CK821334;CN314587;CS158819;CV573441;D90452;D90453;DA323544;DA546174;DB090561;M64110;M83216;NG_029186;NM_004342;NM_033138;NM_033139;NM_033140;NM_033157;XM_006716136;XM_006716137;XM_006716138;XM_006716139 AAA35636;AAA58419;AAA58420;AAF69498;AAH05006;AAH14035;AAH40354;AAH61926;BAA14418;BAA14419;BAB93509;BAF82375;BAG60727;BAG65492;BAH13250;CAD98104;CAI46261;CAJ29926;EAW83826;EAW83827;EAW83828;EAW83830;EAW83831;EAW83832;EAW83833;EAW83834;EAW83835;NP_004333;NP_149129;NP_149130;NP_149131;NP_149347;Q05682;XP_006716199;XP_006716200;XP_006716201;XP_006716202 Hs.490203 1648656;1648658;1664666;1673991;1701272;1706652;1768782;1846672;1853386;2121980;2131009;2168056;2178415;2178417;5022578;5024039;5024547;5037552 A005L07;CALD1;D16S325;D1S1423;D1S3698;D7S2330;D7S2751;D8S2279;G20301;GDB:1317196;GDB:4585525;RH104265;RH11457;RH16186;SHGC-34706;SHGC-82810;WI-17596;WI-9105 CDM;H-CAD;HCAD;L-CAD;LCAD;MGC21352;NAG22 OTTHUMP00000207948;OTTHUMP00000207949;OTTHUMP00000207950;OTTHUMP00000207952;OTTHUMP00000207953;OTTHUMP00000207954;OTTHUMP00000207955;OTTHUMP00000214473;caldesmon APPROVED protein-coding ENSG00000122786 HGNC:1441 00251 114213 REVIEWED 1352091 CALML1 calmodulin-like 1 809 HGNC:1450 736342 CALM2 calmodulin 2 (phosphorylase kinase, delta) ENCODES a protein that exhibits calcium ion binding; ion channel binding; N-terminal myristoylation domain binding; INVOLVED IN detection of calcium ion; positive regulation of cyclic nucleotide metabolic process; positive regulation of cyclic-nucleotide phosphodiesterase activity; PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; N-cadherin signaling pathway; p38 MAPK signaling pathway; ASSOCIATED WITH Depressive Disorder, Major; FOUND IN calcium channel complex; centrosome; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-) 2 2 2 p21 47226054 47242551 - 47387221 47404229 - 47160082 47176601 - 1300048;2305981;6480464;6484113;6892958;6907045;7204676;7204677;7240705;7240708;2311420;8554872 10487978;10884684;16054095;18083096;22717267;22885997;23091085 10075700;10416864;10625668;10692436;10757985;10816571;10823944;10899953;11054265;11072229;11286509;11591728;11736632;11741295;11847276;11953448;11981030;11984006;12032157;12051765;12153558;12189141;12221128;12477932;12577052;12821674;14613930;14702039;15225611;15342556;15632291;15723066;16051665;16127172;16169070;16189514;16229872;16545345;16760425;17046994;17189291;17202341;17687619;18370588;18553937;19190083;19584346;19913121;20000738;20012528;20198394;20379146;20379614;20628086;20639865;20876399;20956522;21047202;21078624;21139048;21145461;21546767;21565611;21726808;21799007;21890473;21906983;21963094;21987572;21988832;22053931;2223880;22323446;22331908;22505724;22633975;22939629;23000965;23077317;23349634;23388215;23798571;2445749;24816145;3111527;7607248;8076819;8226798;8312049;8314583;8573130;8631777;8780394;8862395;9096366;9242710;9278050;9282777;9362478;9658102;9681195;9923700 805 B4DJ51;E7EMB3;F8WBR5;H0Y7A7;P62158 ABBA01075153;AC073283;AI873701;AK055130;AK315694;AMYH02003750;AMYH02003751;BC003354;BC006464;BC008437;BC017385;BC018677;BC026065;BC047553;BP370358;BT009916;CH471053;CR541990;CR542021;D45887;M19311;NM_001743;U94725;U94726;U94727;U94728 AAA35641;AAC83174;AAH03354;AAH06464;AAH08437;AAH17385;AAH18677;AAH26065;AAP88918;AAY24085;BAA08302;BAG38057;CAG46787;CAG46818;EAX00220;EAX00221;EAX00222;EAX00223;NP_001734;P62158 Hs.468442 1742223;1746043;2121606;2158019 GDB:193857;RH125634;SHGC-30221;WI-9106 CALM1;CALM3;CAMII;FLJ99410;PHKD;PHKD2;caM LP7057 protein;OTTHUMP00000159070;OTTHUMP00000202341;OTTHUMP00000202343;calmodulin;phosphorylase kinase delta;prepro-calmodulin 2 protein-coding ENSG00000143933 HGNC:1445 00242 114182 VALIDATED 1344512 CALM2P2 calmodulin 2 pseudogene 2 10 10 10 q22.1 65202461 65203593 + 71923365 71924497 + 70163609 70164741 + 1999288 806 ABBA01019620;AL731540;AMYH02023281;NG_001091;X52955 pseudo HGNC:1447 INFERRED 7175949 CALML3-AS1 CALML3 antisense RNA 1 10 10 p15.1 663 1414 + 5557803 5558553 - 16344560 100132159 AK128534;AL732437;DA220455;DA770774;NR_120496;NR_120497;XR_158859;XR_159195;XR_171832 BAC87486 Hs.239600;Hs.678826;Hs.738690 ncrna HGNC:44682 VALIDATED 737387 CALM3 calmodulin 3 (phosphorylase kinase, delta) ENCODES a protein that exhibits calcium ion binding; ion channel binding; N-terminal myristoylation domain binding; INVOLVED IN detection of calcium ion; positive regulation of cyclic nucleotide metabolic process; positive regulation of cyclic-nucleotide phosphodiesterase activity; PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; N-cadherin signaling pathway; p38 MAPK signaling pathway; FOUND IN calcium channel complex; centrosome; extracellular vesicular exosome; INTERACTS WITH acetylsalicylic acid; afimoxifene; arsenite(3-) 19 19 19 q13.2-q13.3 43908038 43917566 + 47104512 47114039 + 46601255 46610782 + 1300048;2305981;6480464;6484113;6907045;7204676;7204677;7240705;7240708;2311420 10487978;10884684;16054095;18083096;22717267;23091085 10373510;10416864;10625668;10692436;10737800;10757985;10781589;10816571;10823944;10880439;10899953;11054265;11072229;11278607;11286509;11448995;11591728;11685248;11710561;11736632;11741295;11807546;11847276;11953448;11981030;11984006;12032157;12051765;12153558;12189141;12221128;12477932;12485993;12508121;12577052;12821674;12871148;14594800;14613930;14622581;14627618;14630798;14701808;14702039;1474585;14960328;15032605;15140941;15489334;15592455;15632291;15719022;15723066;15746192;15815621;16127172;16169070;16189514;16229872;16299511;16760425;17046994;17353931;17620599;17719545;18370588;18553937;18567582;18768750;19001277;19190083;19322201;19380743;19429631;19913121;20012528;20379146;20628086;20639865;20876399;20956522;21047202;21078624;21145461;21726808;21799007;21906983;21963094;21980498;21987572;2223880;22323446;2244899;22505724;22939629;23077317;23128233;23798571;24163370;2445749;24816145;3111527;3182832;6330098;6385987;6457647;7093203;7607248;7803388;7925473;8226798;8312049;8314583;8476923;8573130;8615909;8631777;8702940;8780394;8862395;9096366;9188442;9242710;9256481;9278050;9362478;9580552;9658102;9681195;9804419;9923700;9927666 808 B4DJ51;M0QZ52;P62158;Q96HY3;Q9BRL5 ABBA01040980;AC093503;AK094964;AK295927;AK310762;AL050207;AMYH02036230;AW883334;AX887973;BC005137;BC006182;BG753029;BT006855;CH471126;FJ224310;J04046;NM_005184;X52606;X52608 AAA51918;AAH05137;AAH06182;AAP35501;ACI46002;BAG58713;CAA36839;CAE93898;EAW57425;EAW57426;EAW57427;EAW57428;EAW57429;NP_005175;P62158 Hs.515487 2115359;2183963;2189473 MARC_7076-7077:992008234:1;NIB1538;RH11519 CALM1;CALM2;HEL-S-72;PHKD;PHKD3;caM OTTHUMP00000164793;OTTHUMP00000164794;calmodulin;calmodulin 3;epididymis secretory protein Li 72;prepro-calmodulin 3 protein-coding ENSG00000160014 HGNC:1449 00243 114183 VALIDATED 1346825 CALML6 calmodulin-like 6 ENCODES a protein that exhibits calcium ion binding (inferred); PARTICIPATES IN Alzheimer disease pathway; glioma pathway; gonadotropin-releasing hormone signaling pathway; FOUND IN cytoplasm (inferred); nucleus (inferred) 1 1 1 p36.33 746319 748788 - 1846266 1848733 + 1914827 1917294 + 1580863;6907045 12477932;15621662;16710414;18029348;19294699 163688 B1AKR1;Q8TD86 ABBA01016077;AF490905;AL109917;AMYH02000112;AY566229;BC053567;CH471183;NM_138705;XM_005244729 AAI60060;AAM08411;AAS67001;EAW56144;EAW56145;EAW56146;NP_619650;Q8TD86;XP_005244786 Hs.85902 CAGLP EF-hand protein;OTTHUMP00000001117;OTTHUMP00000179025;calglandulin-like protein;calmodulin-like protein 6 protein-coding ENSG00000169885 HGNC:24193 12997 610171 VALIDATED 1320724 CALML5 calmodulin-like 5 This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so. Abundant expression is detected only in reconstructed epidermis and is restricted to differentiating keratinocytes. In addition, it can associate with transglutaminase 3, shown to be a key enzyme in the terminal differentiation of keratinocytes. [provided by RefSeq, Jul 2008] 10 10 10 p15.1 5471713 5472588 - 5540658 5541533 - 5498695 5499570 - 1580863;6480464;6907045 10777582;11407979;11969404;12477932;15489334;16196087;16689864;16765896;16934469;17353931;19294699;19615732;21139048;21145461;22145905;22810585;23519124;24146193;24279918;8125298 51806 Q53H37;Q9NZT1 ABBA01034777;AF172852;AK222744;AL732437;AMYH02022043;BC039172;CH471072;NM_017422 AAF66821;AAH39172;ADZ15995;BAD96464;EAW86444;NP_059118;Q9NZT1 Hs.180142 CLSP OTTHUMP00000019005;calmodulin-like protein 5;calmodulin-like skin protein APPROVED protein-coding ENSG00000178372 HGNC:18180 05538 605183 REVIEWED 1344788 CALML4 calmodulin-like 4 ENCODES a protein that exhibits calcium ion binding (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 15 15 15 q23 45367956 45383362 - 68483043 68498448 - 68190705 68206110 - 6480464 12477932;12747765;14702039;16344560;23377640 91860 H3BM27;H3BM29;H3BS46;Q96GE6 ABBA01038785;AC107871;AF308287;AK092628;AK296804;AMYH02030681;BC009516;BC015215;BX439220;BX640702;BX640817;CH471082;DB204573;NM_001031733;NM_001286694;NM_001286695;NM_033429;NR_104583 AAG48255;BAG59377;CAE45822;CAE45894;EAW77808;EAW77809;EAW77810;NP_001026903;NP_001273623;NP_001273624;NP_219501;Q96GE6 Hs.709550 1647814;1684345;2109165;2161399;2161627 CLN6_9860;RH91440;STS-N52768;STS-W81097;WI-18401 MGC4809;NY-BR-20 OTTHUMP00000164388;OTTHUMP00000194712;calmodulin-like protein 4;serologically defined breast cancer antigen NY-BR-20 protein-coding ENSG00000129007 HGNC:18445 12998 VALIDATED 1344159 CALM1P2 calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 7 7 7 p11.2 55430633 55431016 - 55327411 55327794 - 55259718 55260101 - 7925473 804 ABBA01011850;AC073324;AMYH02015732;CH236957;NG_001090;U12475 pseudo HGNC:1444 INFERRED 731575 CALR calreticulin Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008] 19 19 19 p13.3-p13.2 12939147 12945035 + 13049414 13055304 + 12938600 12944490 + 1580863;704416;2326172;2326165;6480464;6907045;7204686;7240710;8554872;8699517 11907032;15289361;18563736;20356453 10198260;10358038;10364189;10436013;10508608;10513896;10547375;10581245;10887119;10929008;11149926;11322874;11327697;11378243;11765911;11825569;11842004;11859136;11891802;12047747;12052826;12065601;12147682;12196561;12235131;12239218;12242300;12324449;12362238;12383251;12397072;12477932;12538033;12584332;12646570;12704787;12740382;12821648;1286667;1286669;14624761;14726956;14732231;14980518;14985176;15056662;15057824;15231747;15236594;15351734;15371419;15383281;15474971;15489334;15494401;15596044;15634883;15855281;15893733;15896298;15952740;15998798;16130169;16140380;16236267;16502470;16522185;16522924;16527813;16542777;16951181;16951317;16974078;17009399;17055437;17215244;1733953;17353931;17390051;17499031;17563366;17655857;17947714;17959730;17982021;18022694;18029348;18177377;18221019;18303019;18417548;18559259;18641393;18653767;18765291;18791162;18795239;18801343;18925427;19050968;19054761;19100874;1911778;19154346;1919005;19199708;19322201;1939344;19470730;19524015;19567621;19580784;19608864;19659458;19684620;19760677;19913121;19946888;20000738;20360068;20480531;20533543;20624402;20628086;20699648;20834237;20855873;20861015;20929309;21075854;21115737;21139048;21142150;21178137;21182888;21319273;21423620;21447409;21652723;21693764;21723904;21890473;21900206;21906983;21911577;21996511;22024156;22079093;22083347;22174317;22190034;22242185;22304920;22377355;22415225;22415851;22429966;22492046;22507216;22511615;22586326;22661095;22773372;22844112;22863883;22915645;22939629;22952844;23000965;23222517;23233327;2332496;23334957;23364915;23375593;23378602;23464991;23535532;23564462;23585889;23587357;2365822;23667531;23771121;23791743;23814025;23862649;23874603;23972286;2400400;24035512;24169561;24214877;24244333;24264800;24325356;24325359;24365789;24366362;24371211;24402162;24421250;24441291;24457600;24458922;24476766;24476767;24480782;24496303;24504025;24523226;24531734;24553179;24569778;24583282;24593306;24639526;24753125;24764562;24816145;25118376;3260607;7559457;7592883;7622522;7841019;7876246;7923996;8006073;8050453;8062452;8107808;8107809;8125298;8418194;8537405;8550632;8662691;8666824;8769474;8805302;8904349;8910335;9036970;9089287;9150948;9312001;9359841;9427624;9525969;9545232;9671507;9693955;9988700 811 K7EJB9;K7EL50;K7ELE2;P27797;V9HW88 AB451408;ABBA01029763;AC092069;AD000092;AF087986;AK130190;AK223060;AK295230;AK304492;AMYH02035560;AMYH02035561;AY047586;BC002500;BC007911;BC020493;BC107102;BT007448;CH471106;CR457070;CS288581;FJ224311;JA462404;M32294;M84739;NG_029662;NM_004343 AAA36582;AAA51916;AAB51176;AAH02500;AAH07911;AAH20493;AAL13126;AAP36116;ACI46003;BAD96780;BAG58223;BAG65301;BAG70222;CAG33351;CAK18761;CCD35250;EAW84330;EAW84331;EAW84332;NP_004334;P27797 Hs.515162 2134870;2217102 CALR_3945;STS-M84739 CRP55;CRT;ERp60;FLJ26680;HACBP;HEL-S-99n;RO;SSA;cC1qR;grp60 Sicca syndrome antigen A (autoantigen Ro, calreticulin);Sicca syndrome antigen A (autoantigen Ro; calreticulin);autoantigen Ro;calregulin;endoplasmic reticulum resident protein 60;epididymis secretory sperm binding protein Li 99n APPROVED protein-coding ENSG00000179218 HGNC:1455 00169 109091;187950;254450 REVIEWED 1314120 CALN1 calneuron 1 This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 7 7 7 q11 64619023 65251883 - 71244476 71912136 - 71779491 72412375 - 1580863;6480464;8554872 11286509;12477932;12690205;12853948;14702039;15489334;16344560;19338761;20379614;21926974;22837378;24529757;8619474;9110174;9847074 83698 A4D1Z1;E9PFU3;Q9BXU9 ABBA01063998;ABBA01063999;ABBA01064000;ABBA01064001;ABBA01064002;ABBA01064003;ABBA01064004;ABBA01064005;ABBA01064006;ABBA01064007;ABBA01064008;ABBA01064009;ABBA01064010;ABBA01064011;ABBA01064012;ABBA01064013;ABBA01064014;ABBA01064015;AC004845;AC004905;AC005011;AC006334;AC067941;AC092424;AC092785;AF282250;AK091485;AK094469;AK123862;AK313054;AL117636;AMYH02016001;AMYH02016002;AMYH02016003;AMYH02016004;AMYH02016005;AMYH02016006;AMYH02016007;AMYH02016008;AMYH02016009;AMYH02016010;AMYH02016011;AMYH02016012;AY007302;AY726595;BC020200;BG718538;CH236952;CH471140;DA101934;DA150825;DA805580;KF458476;KF458481;NM_001017440;NM_031468;XM_006716146 AAG09620;AAH20200;AAK15155;AAP21872;AAP21889;AAS02041;AAS07466;AAS07507;ABM83066;ABM86260;BAG35885;BAG53974;EAL23970;EAX07901;EAX07902;NP_001017440;NP_113656;Q9BXU9;XP_006716209 Hs.592750 1334667;1337127;1340458;1341086;1342170;1645683;1645685;1659733;1660782;1662784;1667776;1667923;1667925;1696488;1725549;1735714;1740009;1768597;1770506;1777189;1851919;1857574;2114152;2122357;2124026;2129966;2131898;2133684;2136500;2137329;2143861;2144400;2145591;2156358;2160406;2161619;2168783;2171267;2175424;7183772;7185353;7185430;7185497;7185536;7186011;7186154;7186740 A005B02;A006A08;A006O39;A007B21;D7S1483;D7S1497;D7S1499;D7S1511;D7S1607;D7S1776;D7S1816;D7S1843;D7S2025;D7S2161E;D7S2169E;D7S2393;D7S2415;D7S2633;D7S2933;D7S653;D7S672;G17123;G20236;G20644;GDB:1234276;GDB:1317540;GDB:1317622;GDB:1318633;GDB:3754362;GDB:3755065;RH119173;RH11992;RH44479;SHGC-32199;SHGC-4640;SHGC-79816;WI-19877;WI-21143;WI-21173 CABP8 OTTHUMP00000160216;OTTHUMP00000198477;OTTHUMP00000198493;OTTHUMP00000210382;OTTHUMP00000210383;calcium-binding protein 8;calcium-binding protein CABP8;calneuron I;calneuron-1 APPROVED protein-coding ENSG00000183166 HGNC:13248 06209 607176 VALIDATED 1313562 CALML3 calmodulin-like 3 ENCODES a protein that exhibits calcium ion binding (inferred); PARTICIPATES IN Alzheimer disease pathway; glioma pathway; gonadotropin-releasing hormone signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH arsenite(3-); isotretinoin; simvastatin 10 10 10 p15.1 5498075 5499376 + 5566924 5568231 + 5524961 5526262 + 1580863;6480464;6907045 11278607;11426940;12067719;12477932;1334432;15164054;15489334;16189514;16385451;17130134;18570893;18818677;19056867;19166543;19615732;21044950;21988832;22145905;2217169;23638045;24163370;24244333;24457600;3181418;8428750;8476923;8507643 810 P27482 ABBA01034777;AK313934;AL732437;AMYH02022043;BC031889;CH471072;CU454493;DR421766;FB335818;HH767157;HY060230;M36707;M58026;NM_005185;X13461 AAA36356;AAH31889;ABM82702;ABM85886;BAG36653;CAA31809;CAR80870;CBX84343;EAW86443;NP_005176;P27482 Hs.239600 1743153 GDB:277110 CLP OTTHUMP00000019004;caM-like protein;calmodulin-like protein 3;calmodulin-related protein NB-1 protein-coding HGNC:1452 00244 114184 VALIDATED 3399173 CALR4P calreticulin 4, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p32.3 50306918 50334964 + 52020400 52035422 - 51554728 51569750 - 6480464 20210993 441884 ABBA01074794;AC104170;AL772260;AMYH02001000;NG_021361 pseudo HGNC:35456 INFERRED 1601759 CALY calcyon neuron-specific vesicular protein The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 128367054 128378600 + 135138928 135150482 - 133325424 133336971 - 6480464 11583808;12477932;14534309;14755439;15489334;16172615;16385451;16595675;17081983;17623072;17885599;19352218;20468064;20602615;21415033;22843680 50632 Q9NYX4 ABBA01006212;AF225903;AL360181;AMYH02024091;AMYH02024092;BC038978;BI914942;BP392207;CH471211;NM_015722;XM_005252685 AAF34714;AAH38978;EAW61334;EAW61335;NP_056537;Q9NYX4;XP_005252742 Hs.148680 DRD1IP;NSG3;RP11-122K13.5 D1 dopamine receptor-interacting protein;OTTHUMP00000020793;OTTHUMP00000020795;calcyon D1 dopamine receptor-interacting protein (CALCYON);calcyon protein;dopamine receptor D1 interacting protein;neuron-specific vesicular protein calcyon APPROVED protein-coding ENSG00000130643 HGNC:17938 06871 604647 VALIDATED 1319475 CALR3 calreticulin 3 The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011] 19 19 19 p13.11 16491740 16508840 - 16589767 16607015 - 16479057 16496192 - 1580863;6480464;8699517;7240710;8554872 12384296;12477932;14702039;15342556;15489334;16159877;17975137;21590275;21738480 125972 M0R0Y8;Q96L12 AA724299;AA910019;AB576176;ABBA01051147;ABBA01051148;AC008764;AK058084;AMYH02035684;BC014595;BP370084;CH471106;CS288583;DB459545;DB510196;NG_031959;NM_145046 AAH14595;ABM81829;ABM84982;BAB71655;BAJ14705;CAK18762;EAW84546;NP_659483;Q96L12 Hs.304020 CMH19;CRT2;CT93;FLJ25355;MGC26577 calreticulin 2;calreticulin-2;calreticulin-3;calsperin;cancer/testis antigen 93 APPROVED protein-coding ENSG00000269058 HGNC:20407 12999 611414;613875 REVIEWED 733017 CALU calumenin The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 7 7 7 q32.1 123175101 123207285 + 128379346 128413477 + 128739292 128773423 + 1580863;2316232;6480464;8554872 18776587 10094503;10222138;10631319;11076863;11230166;11827452;12477932;12643545;12665801;12690205;14702039;15489334;15489336;16303743;16344560;16381901;16964243;17048007;17049586;17081065;17081983;17110338;17189218;17596133;18029348;18688696;19794411;19913121;19946888;19958090;20020283;20149073;20200517;20360068;20499136;20553802;20628086;20673165;21057703;21139048;21565611;21890473;21906983;21963094;21988832;22113938;22188360;22190034;22268729;22304920;22514732;22768251;22863883;22939629;23402259;23438482;23443559;23455924;23464991;23704328;23752268;24244333;25036637;9218460;9598325;9675259 813 B3KQF5;H0Y875;O43852;Q6IAW5 ABBA01057656;AC024952;AF013759;AF257659;AF345637;AK027460;AK056338;AK074862;AK075089;AK312446;AMYH02016719;AW068942;BC013383;BF438624;BT006826;BT020143;BX091230;CH236950;CH471070;CR457039;CR541835;DA023987;DA703012;HM002604;HM002605;HM002606;HM002607;HM002609;HM002610;HM002611;HM002613;HM002615;HM002616;NG_033110;NM_001130674;NM_001199671;NM_001199672;NM_001199673;NM_001219;NR_074086;U67280 AAB97725;AAC17216;AAF76141;AAH13383;AAK72908;AAP35472;AAV38945;ABM83159;ABM86360;ADG45004;ADG45005;ADG45006;ADG45007;ADG45009;ADG45010;ADG45011;ADG45013;ADG45015;ADG45016;BAG35353;BAG51328;BAG51681;BAG52017;BAG52065;CAG33320;CAG46634;CAL37464;CAL37467;CAL37505;CAL37557;CAL37588;CAL37696;CAL37834;CAL37878;CAL37907;CAL37987;CAL38060;CAL38141;CAL38267;CAL38335;CAL38634;CAL38691;EAL24113;EAW83674;EAW83675;EAW83676;EAW83677;EAW83678;EAW83679;NP_001124146;NP_001186600;NP_001186601;NP_001186602;NP_001210;O43852 Hs.743262;Hs.7753 1645033;1651881;1661898;1662194;1679934;1770183;1775395;1855479;1855481;2106795;2106797;2157114;2162104;2173773;2176856;2178426;2181468;5093314;5491419 A002N36;A006B29;A009L17;G20679;G32645;MARC_11525-11526:1001518036:1;RH12835;RH44842;RH45162;RH48732;RH64944;RH66822;SHGC-35138;SHGC-52887;STS-H01049;STS-M13299;STS-N32527;UniSTS:464721;UniSTS:464722 FLJ90608 IEF SSP 9302;OTTHUMP00000212712;OTTHUMP00000212713;OTTHUMP00000212714;OTTHUMP00000212715;crocalbin;crocalbin-like protein;multiple EF-hand protein;reticulocalbin APPROVED protein-coding HGNC:1458 04569 603420 REVIEWED 736752 CAMK2A calcium/calmodulin-dependent protein kinase II alpha The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008] 5 5 5 q32 145680447 145750799 - 149599054 149669403 - 150219491 150289840 - 1580863;6480464;6484113;6907045;7240705;7240704;8554872 22334212;22717267 10090741;10231032;10318869;10347170;10373510;10400690;10629061;10737616;10737800;10753652;10851169;10861222;10862698;10874031;11013247;11027280;11104776;11160423;11222640;11264466;11278737;11306676;11331285;11397791;11447121;11459059;11468283;11679592;11710563;11751951;11814622;11867691;11889801;11930170;12147342;12223541;12387894;12408851;12435421;12475968;12477932;12486117;12619878;12630910;12815021;12871946;12933808;12951199;12954639;1309762;1314426;1374067;1375933;14622581;14684825;14702098;14722083;14970204;15044063;15140879;15312654;15358237;15621017;15673434;15757646;15866054;16027165;16115892;16120608;16247765;16436603;1650365;16557530;16565089;16820363;17052756;17202341;17221287;17353931;17512525;17568776;17603807;17627985;17632540;18218981;18227124;18292392;18305109;18311135;18803808;19156168;19213956;19328558;19453375;19638347;20053885;20178748;20379614;21124984;2114109;21315782;2155236;21610080;21611732;2164678;21906983;22023388;22360420;22427672;22496345;22496558;22505582;22514303;22573680;22815963;22824813;22939624;22939629;23000965;23251661;23260144;23402759;23459588;2394752;24407174;24781523;24855644;3475713;7523419;7706316;7822264;7929371;8413226;8615909;8663317;8665664;8940188;8980240;8999860;9099667;9115241;9452387;9452388;9481670;9724800;9735171;9771888;9813144;9832145 815 A8K161;D6RFJ0;D6RHX9;Q7LDD5;Q8IWE0;Q9UQM7 AB023185;ABBA01026282;ABBA01026283;AC011372;AF091486;AF145710;AF145711;AK289776;AK308853;AMYH02012455;AY429524;BC040457;BF951952;CH471062;KF458035;NM_015981;NM_171825 AAD30558;AAD30559;AAD55815;AAH40457;ACE86769;ACE87455;BAA76812;BAF82465;EAW61741;EAW61742;NP_057065;NP_741960;Q9UQM7 Hs.743976 1654846;1660904;1780608;1795468;2147676;2172992;2187811;5123329 1954;CAMK2A__1170;D17S1195;G69463;RH11735;RH35759;WI-16284;bac51383T KIAA0968 CAMKA;CaM kinase II alpha subunit;CaM-kinase II alpha chain;CaMK-II alpha subunit;CaMKIINalpha;OTTHUMP00000165787;OTTHUMP00000165788;caM kinase II subunit alpha;caMK-II subunit alpha;calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha;calcium/calmodulin-dependent protein kinase II alpha-B subunit;calcium/calmodulin-dependent protein kinase type II alpha chain;calcium/calmodulin-dependent protein kinase type II subunit alpha APPROVED protein-coding ENSG00000070808 HGNC:1460 06532 114078 REVIEWED 731618 CAMK1 calcium/calmodulin-dependent protein kinase I Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008] 3 3 3 p25.3 9733733 9746362 - 9799029 9811676 - 9757345 9769992 - 1580863;6480464 10187789;10400690;10571231;10874031;11081517;11114197;11395482;12193581;12237306;12475216;12477932;12539042;12630910;12665801;12935886;1375933;14507913;14754892;15166223;15251453;15367659;15489334;15680915;16767219;17442826;18089838;18184567;19086053;19100722;19844571;19913121;20433920;20468064;20628086;21139048;21249615;21791615;21832049;23028635;23602568;23707388;7559563;7641687;8384217;9395448;9662074;9705275;9822657 8536 B0YIY3;C9JES6;F8W6S9;H7C071;Q14012 AA724193;AB451277;AB451407;ABBA01020400;AC022382;AK314917;AMYH02006236;BC106754;BC106755;BI546222;CH471055;DN990042;EF444963;L41816;NM_003656;XM_005265516;XM_005265517 AAA99458;AAI06755;AAI06756;ACA05961;ACE87772;ACT64438;BAG37428;BAG70091;BAG70221;EAW63989;EAW63990;EAW63991;EAW63992;EAW63993;NP_003647;Q14012;XP_005265573;XP_005265574 Hs.434875 1658025;1709002;1788118;2131591;2159032 G67289;RH78923;SHGC-76687;SHGC-76689;SHGC-79567 MGC120317;MGC120318;caM-KI;caMKI-alpha CAMKI;OTTHUMP00000158527;caM kinase I alpha;calcium/calmodulin-dependent protein kinase type 1;regulator of g-protein signalling 19 APPROVED protein-coding ENSG00000134072 HGNC:1459 05412 604998 REVIEWED 1602218 CAMK2N1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ENCODES a protein that exhibits calcium-dependent protein kinase inhibitor activity (inferred); protein kinase binding (inferred); INVOLVED IN negative regulation of protein kinase activity (inferred); PARTICIPATES IN calcium/calmodulin dependent kinase 2 signaling pathway; FOUND IN cell junction (inferred); dendrite (inferred); neuronal cell body (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; 8-bromo-3',5'-cyclic AMP 1 1 1 p36.12 19133214 19137058 - 20808884 20812728 - 20482391 20486235 - 6480464;7240706;7240707 21070840;21301225 12175859;12477932;12650977;18305109;19322201 55450 Q7Z7J9;Q9P1J2 ABBA01059780;ABBA01059781;AL391357;AMYH02000430;AY204901;BC020630;BI820748;CH471134;DB475389;NM_018584 AAH20630;AAO49802;EAW94923;EAW94924;NP_061054;Q7Z7J9 Hs.731383 1660465;1665755;2126234;2138161;2143396 HSC1IC062;SHGC-35895;SHGC-74338;SHGC-74339;SHGC-74356 MGC22256;PRO1489;RP11-401M16.1 CaMKIINalpha;OTTHUMP00000002879;caMKII inhibitory protein alpha;caMKIIN-alpha protein-coding ENSG00000162545 HGNC:24190 13112 614986 VALIDATED 1603628 CAMK1D calcium/calmodulin-dependent protein kinase ID This gene encodes a member of the Ca2+/calmodulin-dependent protein kinase 1 subfamily of serine/threonine kinases. The encoded protein may be involved in the regulation of granulocyte function through the chemokine signal transduction pathway. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] 10 10 10 p13 12320755 12797502 + 12391583 12871735 + 12349513 12835545 + 6480464;8554872 11050006;11264466;12477932;12935886;15164054;15489334;15840691;16324104;16385451;17056143;18029348;18372903;18976975;19020323;19020324;19139842;19324937;19383354;19602701;19670153;19720844;19741467;19794065;19833888;19933996;19953087;20080650;20161779;20379614;20418484;20571754;20677014;20712903;20862305;20879858;20889853;20927120;21044950;21832049;21909839;21988832;22863883;22923468;23251661;23459443;23568457;23824909;23840313;24159190 57118 Q5SQQ7;Q8IU85 AB081726;ABBA01034637;ABBA01034638;ABBA01034639;ABBA01034640;ABBA01034641;ABBA01034642;ABBA01034643;ABBA01034644;ABBA01034645;ABBA01034646;ABBA01034647;ABBA01034648;ABBA01034649;ABBA01034650;ABBA01034651;ABBA01034652;AF286366;AI821714;AK289393;AL391314;AL512284;AL512783;AL603717;AL731559;AMYH02022149;AMYH02022150;AMYH02022151;AMYH02022152;AMYH02022153;AMYH02022154;AMYH02022155;AMYH02022156;AMYH02022157;AMYH02022158;AMYH02022159;AMYH02022160;BC035745;BQ059621;BU542765;CH471072;EF444962;HH961742;KF510334;NM_020397;NM_153498;XM_006717481;XM_006717482;XM_006717483 AAG00534;AAH35745;ABM83390;ABM86602;ACA05958;ACA05959;ACA05960;BAC19846;BAF82082;CBX51344;EAW86314;EAW86315;EAW86316;NP_065130;NP_705718;Q8IU85;XP_006717544;XP_006717545;XP_006717546 Hs.659517 1299918;1334518;1336187;1648563;1655838;1674492;1708180;1709808;1730277;1754025;1757919;1764799;1765995;1777671;1779344;1781966;2141195;2179457;5022322;7184706;7186556 D10S1430;D10S1705;D10S2325;D10S2365;D10S236E;D11S2560;G17442;GDB:315097;RH47896;SHGC-132068;SHGC-141926;SHGC-146855;SHGC-148366;SHGC-149390;SHGC-153341;SHGC-32225;SHGC-6785;SHGC-79342;SHGC-84721 CKLiK;CaM-K1;caM-KI delta;caMKI delta CaM kinase ID;CaMKID;CamKI-like protein kinase;OTTHUMP00000019119;OTTHUMP00000019120;caM kinase I delta;calcium/calmodulin-dependent protein kinase type 1D APPROVED protein-coding ENSG00000183049 HGNC:19341 06409 607957 REVIEWED 732495 CAMK1G calcium/calmodulin-dependent protein kinase IG This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. [provided by RefSeq, Jul 2008] 1 1 1 q32.2 182987934 183018193 + 209757045 209787284 + 209583700 209613939 + 6480464;8554872 10645953;12477932;12637513;14702039;15489334;16710414;19913121;20628086;20729199;21935397;21988832;22623531;22939624;23624525 57172 C9IYV2;Q96NX5 ABBA01048215;AF428261;AK095713;AK289675;AL023754;AL049688;AMYH02002598;AX399682;AY212935;BC032787;BG715920;CH471100;NM_020439 AAH32787;AAL28100;AAP29964;ABM82986;ABM86179;BAF82364;BAG53112;CAB41259;CAD33521;EAW93450;EAW93451;EAW93452;NP_065172;Q96NX5 Hs.199068 1734344;5110253 D1S70;L461 CLICK3;CLICKIII;VWS1;dJ272L16.1 CLICK III;OTTHUMP00000034556;OTTHUMP00000034557;OTTHUMP00000034558;caM kinase I gamma;caM kinase IG;caM-KI gamma;caMK-like CREB kinase III;caMKI gamma;caMKIG;calcium/calmodulin-dependent protein kinase type 1G APPROVED protein-coding ENSG00000008118 HGNC:14585 10807 614994 REVIEWED 735326 CAMK2B calcium/calmodulin-dependent protein kinase II beta The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 7 7 7 p14.3-p14.1 44354715 44422313 - 44256749 44365230 - 44217150 44325631 - 1580863;6480464;6484113;6907045;7240705;7240704 22334212;22717267 10373510;10819240;10858498;11013247;11042361;11076863;11160423;11306676;11325525;11468283;11710563;11751951;11867691;11889801;12147342;12475968;12477932;12496285;12619878;12690205;12815021;12853948;14565989;14622581;14702039;14722083;15199064;15294044;15312654;15489334;15489336;15604093;15665723;15792370;16126727;16185778;16247765;16344560;16381901;16436603;17202341;17353931;17419996;18218981;18302935;18311135;18817731;19058789;19156168;20178748;20379614;21139048;21479273;21610080;21871176;21884935;21906983;21988832;22399527;22505724;22750393;22939624;23000965;23275563;23989986;24722188;2842767;3417668;7758473;8125298;8615909;8619474;8665664;8940188;9060999;9110174;9115241;9481670;9724800 816 A4D2J9;B7Z1Z6;E7EQE4;E7ERS6;E7ETC9;E9PBE8;H7BXS4;H7BZC6;H7C394;Q13554 AA399393;AB073352;ABBA01058215;ABBA01058216;ABBA01058217;AC006454;AC093086;AC106040;AF078803;AF081572;AF081924;AF083419;AF112471;AF112472;AF131776;AF140350;AI190315;AJ252236;AJ252237;AJ252238;AK091991;AK222703;AK290148;AK294138;AK315663;AMYH02015616;AMYH02015617;AMYH02015618;BC019070;BI550751;BQ130578;BX445032;CH236960;CH471128;DA069361;DB175099;DB566810;NG_029407;NM_001220;NM_001293170;NM_172078;NM_172079;NM_172080;NM_172081;NM_172082;NM_172083;NM_172084;U23460;U50358;XM_005249859;XM_005249861;XM_005249862;XM_005249864;XM_006715776;XM_006715777;XM_006715778;XM_006715779;XM_006715780;XM_006715781;XM_006715782;XM_006715783;XM_006715784 AAB16863;AAC99802;AAD03743;AAD03744;AAD42035;AAD42036;AAD42037;AAD42038;AAD42070;AAH19070;AAS02024;AAS07454;BAD96423;BAF82837;BAG38029;BAH11682;CAB65120;CAB65121;CAB65122;CAL37627;CAL37670;CAL38439;CAL38692;EAL23755;EAL23756;EAL23757;EAL23758;EAL23759;EAL23760;EAL23761;EAL23762;EAW61104;EAW61105;EAW61106;EAW61107;EAW61108;EAW61109;NP_001211;NP_001280099;NP_742075;NP_742076;NP_742077;NP_742078;NP_742079;NP_742080;NP_742081;Q13554;XP_005249916;XP_005249918;XP_005249919;XP_005249921;XP_006715839;XP_006715840;XP_006715841;XP_006715842;XP_006715843;XP_006715844;XP_006715845;XP_006715846;XP_006715847 Hs.351887 1647837;1704772;1758075;1786466;1855772;2163188;2173183 D7S2140E;D7S2630;GDB:1318018;SHGC-147284;SHGC-172651;SHGC-32552;SHGC-79851 CAM2;CAMK2;CAMKB;MGC29528 CaM kinase II beta subunit;CaM-kinase II beta chain;OTTHUMP00000025109;OTTHUMP00000159355;OTTHUMP00000159356;OTTHUMP00000159440;OTTHUMP00000159441;OTTHUMP00000159442;OTTHUMP00000159443;OTTHUMP00000209343;OTTHUMP00000209344;OTTHUMP00000214130;OTTHUMP00000225913;caM kinase II subunit beta;caMK-II subunit beta;calcium/calmodulin-dependent protein kinase (CaM kinase) II beta;calcium/calmodulin-dependent protein kinase ii beta subunit;calcium/calmodulin-dependent protein kinase type II beta chain;calcium/calmodulin-dependent protein kinase type II subunit beta;proline rich calmodulin-dependent protein kinase APPROVED protein-coding ENSG00000058404 HGNC:1461 12127 607707 REVIEWED 732268 CAMK2N2 calcium/calmodulin-dependent protein kinase II inhibitor 2 This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008] 3 3 3 q27.1 182417767 182420015 - 183977003 183979251 - 184259215 184261463 - 6480464;7240706;7240707 21070840;21301225 11444830;12477932;12531901;19586909;20487031;22087225;22472876;23153928;23545117;9724800 94032 Q96S95 ABBA01058450;ABBA01058451;AC061705;AC078797;AMYH02008305;AY037149;BC105077;BC105079;CH471052;NM_033259 AAI05078;AAI05080;AAK67630;EAW78280;EAW78281;NP_150284;Q96S95 Hs.585003 2112582;2169422;5493297;5493941 D3S4350;RH12612;UniSTS:480474;UniSTS:485633 CAM-KIIN;CAMKIIN CaM-KII inhibitory protein;OTTHUMP00000210693 APPROVED protein-coding ENSG00000163888 HGNC:24197 16377 608721 REVIEWED 1604851 CAMK2G calcium/calmodulin-dependent protein kinase II gamma The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011] 10 10 10 q22 68855429 68917528 - 75572259 75634349 - 73812501 73874591 - 6480464;6484113;6907045;7240705 22717267 10212259;10347170;10366608;10373510;10625670;10693762;10748018;10860555;11013247;11027280;11080189;11108966;11160423;11264466;11290523;11325525;11359875;11398101;11535587;11559703;11825621;11839738;11889801;11972023;12032636;12477932;12486117;12554746;12609872;12637327;12808093;12815021;1309762;14532276;14622581;14702039;14722083;14963018;15164054;15294044;15322115;15775983;16002660;16120608;16385451;16436603;17032905;17081983;17192257;17373700;17431504;17553505;17568776;18218981;18311135;18434368;18483256;18781797;19001023;19204726;19603549;19615732;19671701;19682070;19840793;19913121;19946888;20060891;20139089;20149311;20628086;20851109;21063097;21139048;21145461;21513986;2160950;21906983;21983898;22049206;22371496;22505724;22592532;22612808;22615928;22623531;22939624;22952977;23000965;23008441;23074277;23463379;23502535;23516528;23543616;23960096;24100685;24189456;24269630;24654937;3118371;6150037;7543024;7557101;7690989;7876254;7877986;8125298;8287681;8380342;8404858;8449910;8615909;8663317;8665664;8798667;9060999;9115241;9224693;9240463;9355737;9407043;9481670;9670010;9677319;9721757;9768837 818 B4DVQ3;H0Y6G2;Q13280;Q13555;Q5SWX3;Q8WU40 AB209474;ABBA01020305;ABBA01020306;ABBA01020307;ABBA01020308;AC022400;AK026309;AK094774;AK095576;AK131199;AK225771;AK291704;AK301180;AL596247;AL713896;AMYH02023339;AMYH02023340;BC012795;BC021269;BC034044;BC037928;BU165166;CH471083;KF455257;L07043;L07044;NG_029408;NM_001204492;NM_001222;NM_172169;NM_172170;NM_172171;NM_172173;U32472;U32473;U32509;U50359;U50360;U66063;U66064;XM_005270195;XM_005270197;XM_005270198;XM_005270199;XM_005270200;XM_005270201;XM_005270202;XM_005270203;XM_005270205;XM_006717993;XM_006717994;XM_006717995;XM_006717996;XM_006717997;XM_006717998;XM_006717999;XM_006718000 AAA75201;AAA75202;AAA75203;AAB16864;AAB16865;AAB61379;AAB80847;AAB80848;AAH21269;AAH34044;ABM83291;ABM86500;ABM87691;BAD92711;BAF84393;BAG53089;BAG54748;BAG62765;EAW54527;EAW54528;EAW54529;EAW54530;EAW54531;EAW54532;EAW54533;EAW54534;EAW54535;EAW54536;EAW54537;EAW54538;EAW54539;EAW54540;EAW54541;EAW54542;EAW54543;NP_001191421;NP_001213;NP_751909;NP_751910;NP_751911;NP_751913;Q13555;XP_005270252;XP_005270254;XP_005270255;XP_005270256;XP_005270257;XP_005270258;XP_005270259;XP_005270260;XP_005270262;XP_006718056;XP_006718057;XP_006718058;XP_006718059;XP_006718060;XP_006718061;XP_006718062;XP_006718063 Hs.523045 1338862;1672432;1696568;1758631;1758633;1781890;2111055;5014051;5021872;5022200;5022578;5022651;5037552;5109281;5118444 D10S1737;D10S483E;D11S2921;D11S3316;D1S1423;D1S1425;D8S2278;D8S2279;L18426;SHGC-106444;SHGC-148964;SHGC-148965;SHGC-78184;WI-12185;sY3084 CAMK;CAMK-II;CAMKG;FLJ16043;MGC26678 OTTHUMP00000019843;OTTHUMP00000019844;OTTHUMP00000019845;OTTHUMP00000019846;OTTHUMP00000019847;caM kinase II subunit gamma;caMK-II subunit gamma;calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma;calcium/calmodulin-dependent protein kinase type II subunit gamma APPROVED protein-coding ENSG00000148660 HGNC:1463 03672 602123 REVIEWED 1349409 CAMKK1 calcium/calmodulin-dependent protein kinase kinase 1, alpha The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p13.2 3775420 3808149 - 3763609 3796337 - 3860315 3894242 - 1580863;2311420;6480464;8554872 16054095 10187789;10560916;10833263;11230166;11574070;12477932;12628440;12935886;15324660;15489334;15591024;16741161;18242179;18270593;18695047;19247474;19294699;19520843;20106900;20453000;21832049;22939624;23444366;23737288;24255178;7615569;7642608;8621423;9705275 84254 J3KPJ3;Q8N5S9 ABBA01054749;ABBA01054750;AC005940;AF370377;AF425232;AF425301;AK128601;AL136576;AMYH02032808;AMYH02032809;BC011401;BC031647;BC043487;CH471108;NM_032294;NM_172206;NM_172207;XM_005256817;XM_005256819;XM_005256820;XM_006721588;XR_243569 AAH31647;AAH43487;AAN37386;AAN37387;AAQ15213;ABM83347;ABM86561;CAB66511;EAW90474;EAW90475;EAW90476;NP_115670;NP_757343;NP_757344;Q8N5S9;XP_005256874;XP_005256876;XP_005256877;XP_006721651 Hs.8417 1717761;2170149;2170151;2175956;5014051;5015619;5016478;5021872;5022463;5022651;5037552;5092454 A005P11;D11S2921;D11S3114;D3S1673;D8S2278;D8S2279;G20392;G54292;GDB:434012;RH121788;SHGC-32989;sY3084 DKFZp761M0423;MGC34095;caM-KK 1;caMKK 1 CAMKK alpha protein;CAMKKA;OTTHUMP00000115903;OTTHUMP00000115904;OTTHUMP00000115905;caM-KK alpha;caM-kinase IV kinase;caM-kinase kinase 1;caM-kinase kinase alpha;calcium/calmodulin-dependent protein kinase kinase 1;calcium/calmodulin-dependent protein kinase kinase alpha APPROVED protein-coding ENSG00000004660 HGNC:1469 13000 611411 REVIEWED 737324 CAMKK2 calcium/calmodulin-dependent protein kinase kinase 2, beta The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012] 12 12 12 q24.2 121313250 121374183 - 121675495 121736111 - 121237692 121298308 - 2311420;6480464;6484113;8554872 16054095 10187789;11395482;12168954;12477932;12628440;12935886;15489334;16054096;16247765;16344560;16673375;16880506;17043677;17197037;18029348;18436530;18976975;19407487;19667195;19763792;19953087;19958286;20018878;20379614;20562859;21084482;21669867;21670147;21807092;21832049;21890473;21906983;21957496;22654108;22778263;22939624;23027865;23110126;23465592;23754392;9662074;9822657;9872452 10645 F5GZ00;F5H360;F5H4I7;Q96RR4 AA678930;AB018330;AB081336;AB081337;ABBA01020153;ABBA01020154;ABBA01020155;ABBA01020156;ABBA01020157;AC069209;AF091074;AF101264;AF140507;AF287630;AF287631;AF321385;AF321386;AF321387;AF321388;AF321389;AF321401;AF321402;AF425668;AI612762;AK024748;AK292072;AK300865;AL834322;AMYH02027393;BC000318;BC026060;BF972593;CH471054;DA075361;NG_029409;NM_001270485;NM_001270486;NM_006549;NM_153499;NM_153500;NM_172214;NM_172215;NM_172216;NM_172226;U87803;XM_005253822;XM_005253823;XM_005253824 AAC72943;AAD04566;AAD31507;AAH00318;AAH26060;AAK64600;AAK64601;AAK91829;AAK91830;AAL37215;AAL37216;AAL37217;AAL37218;AAN37388;ABM84336;ABM87784;BAA34507;BAC19840;BAC19841;BAF84761;BAG62514;CAD38990;EAW98247;EAW98248;EAW98249;EAW98250;EAW98251;EAW98252;EAW98253;EAW98254;EAW98255;EAW98256;EAW98257;EAW98258;NP_001257414;NP_001257415;NP_006540;NP_705719;NP_705720;NP_757363;NP_757364;NP_757365;NP_757380;Q96RR4;XP_005253879;XP_005253880;XP_005253881 Hs.297343 1653567;1736296;1746515;1746563;1768650;1848161;1848163;2106817;2106819;2106821;2106823;2106825;2165736;2170322;2174688;5022578 A001Z45;D12S1241E;D1S1423;G19833;G64570;G64571;HSC2OG072;PG2S01;PG2S02;PG2S09;PG2S15;PG2S5UT01;RH11188;RH11255;SGC32416;WI-15135 CAMKK;CAMKKB;KIAA0787;MGC15254 CAMKK beta protein;OTTHUMP00000240235;OTTHUMP00000240236;OTTHUMP00000240237;OTTHUMP00000240238;OTTHUMP00000240239;OTTHUMP00000240241;OTTHUMP00000240242;OTTHUMP00000240244;OTTHUMP00000240245;ca+/calmodulin-dependent protein kinase kinase beta (cam-kinase kinase beta);caM-KK 2;caM-KK beta;caM-kinase kinase 2;caM-kinase kinase beta;caMKK 2;calcium/calmodulin-dependent protein kinase beta;calcium/calmodulin-dependent protein kinase kinase 2;calcium/calmodulin-dependent protein kinase kinase beta APPROVED protein-coding ENSG00000110931 HGNC:1470 06467 615002 REVIEWED 1604302 CAMKV CaM kinase-like vesicle-associated ENCODES a protein that exhibits ATP binding (inferred); calmodulin binding (inferred); protein kinase activity (inferred); INVOLVED IN metabolic process (inferred); protein phosphorylation (inferred); FOUND IN cytoplasmic vesicle (inferred); plasma membrane (inferred); INTERACTS WITH all-trans-retinoic acid; N-nitrosodiethylamine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 3 3 3 p21.31 49861230 49873180 - 49895414 49907655 - 49857981 49869955 - 6480464 11230166;11256614;12477932;14702039;15345747;15489334;16169070;18029348;19367581;21145461;21832049;21906983;22939624;8283228 79012 B4DM24;B4DSW8;C9J9E2;C9JSB2;E7ETR1;F8WDJ4;Q8NCB2 ABBA01024571;AC105935;AC139451;AK074856;AK074899;AK075294;AK226073;AK295588;AK297258;AK297437;AK299953;AK315525;AL136697;AL833943;AL834461;AMYH02006760;BC000497;BC001921;BC005828;BC017363;BC019256;BC033374;BX647074;CH471055;CQ782867;CR533508;NM_024046;XM_005265478 AAH00497;AAH01921;AAH05828;AAH17363;AAH19256;ABM82330;ABM87818;BAC11248;BAC11278;BAC11528;BAG37906;BAG58480;BAG59736;BAG59864;BAG61780;CAB66632;CAD38798;CAF86095;CAG38539;EAW65027;EAW65028;EAW65029;EAW65030;EAW65031;EAW65032;EAW65033;EAW65034;NP_076951;Q8NCB2;XP_005265535 Hs.145156 1665869;1672186;2147079 1810;RH11809;WI-15318 1G5;MGC8407 OTTHUMP00000212743;OTTHUMP00000212744;OTTHUMP00000212745;OTTHUMP00000212746;OTTHUMP00000212747;OTTHUMP00000212766;VACAMKL;caM kinase-like vesicle-associated protein;vesicle-associated calmodulin-binding protein protein-coding ENSG00000164076 HGNC:28788 11361 614993 VALIDATED 731356 CAMK4 calcium/calmodulin-dependent protein kinase IV The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008] 5 5 5 q21.3 106506012 106766350 + 110559947 110830584 + 111224249 111485051 + 734683;1580863;734684;6480464;6907045;8554872 10932193;11572782 10400690;10617605;10681496;10874031;11274168;11395482;11470791;11970865;12065094;12477932;12630910;1375933;14701808;15143065;15489334;15591024;15665723;15680915;15840651;15841182;15902271;16344560;17192257;17903302;17909078;18029348;18053176;18606955;18660489;18829949;18930438;19001277;19017650;19056867;19100722;19386606;19436069;19506079;19538941;19633294;19953087;2011593;20171262;20378615;20379614;20677014;21139048;21514275;21612516;22897820;22939624;23049845;23103515;23535033;23817569;23817571;24024966;24442360;24667640;24816145;2536634;7615569;8089075;8107230;8194751;8621423;8702940;8855261;9154845;9705275;9822657 814 D6RCD6;D6RE65;D6REY7;Q16566 ABBA01069071;AC010275;AC010468;AC011422;AK311662;AK312840;AL833368;AMYH02011965;AMYH02011966;AMYH02011967;AMYH02011968;AMYH02011969;AMYH02011970;BC016695;BC025687;BG721313;CH471086;D30742;DA396146;L17000;L24959;NM_001744 AAA18251;AAA35639;AAH16695;AAH25687;ABM83828;ABM84121;ABM84122;ABM87522;ABM87523;ABM87524;ABM87525;BAA06403;BAG35694;EAW49032;EAW49033;EAW49034;NP_001735;Q16566 Hs.591269 1646776;1647015;1665321;1717151;1739057;1739061;1739069;1750835;1754827;1772136;2107907;2147714;2170330 CAMK4_8239;D5S1778;D5S1780;D5S1785;D5S2448;RH11450;RH121498;RH36049;RH36499;RH69019;SGC35247;SHGC-104500;SHGC-141749 CaMK IV;CaMK-GR;IV;MGC36771;caMK CAM kinase IV;CAM kinase- GR;OTTHUMP00000159000;OTTHUMP00000222818;brain Ca(2+)-calmodulin-dependent protein kinase type IV;brain Ca++-calmodulin-dependent protein kinase type IV;caM kinase-GR;calcium/calmodulin-dependent protein kinase type IV;calcium/calmodulin-dependent protein kinase type IV catalytic chain APPROVED protein-coding HGNC:1464 07169 114080 REVIEWED 1347931 CAMLG calcium modulating ligand The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008] 5 5 5 q23 130200576 130214217 + 134074170 134087850 + 134738480 134752160 + 1580863;2316229;6480464 12031912 10880535;11006089;12388711;12477932;12919676;15451437;15668245;16243292;16344560;18391951;19135167;19946888;20126395;20485444;20553626;20582322;20676093;21128111;21139048;21906983;22281498;23041287;23266901;23879967;7522304;8824814;9311921;9632697 819 D6RIW3;P49069 ABBA01068746;ABBA01068747;ABBA01068748;AC010301;AF068179;AK313156;AMYH02012251;BC063532;BC130325;BG720084;BX111055;CH471062;DA727548;NM_001745;U18242 AAA59420;AAC23596;AAI30326;ADR82926;BAG35974;EAW62243;EAW62244;NP_001736;P49069 Hs.529846 1674906;1700284;1793358;1848328;2218334;5015961;5022322 CAMLG_4499;D11S2560;D15S1477;PMC212802P1;RH103760;SGC30209;SHGC-32215 CAML;MGC163197 OTTHUMP00000159378;OTTHUMP00000223128;calcium signal-modulating cyclophilin ligand;calcium-modulating cyclophilin ligand;calcium-signal modulating cyclophilin ligand;cyclophilin B-binding protein APPROVED protein-coding ENSG00000164615 HGNC:1471 03073 601118 REVIEWED 1605634 CAMKMT calmodulin-lysine N-methyltransferase This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012] 2 2 2 p21 44427993 44838447 + 44589043 44999731 + 44361904 44772592 + 6480464;8554872 12477932;16344560;17207965;18234729;19322201;19575798;20200953;20379614;20881960;20975703;21832049;22610502;23285036;23349634;23794250;24025145 79823 B5MC16;B5MC79;D6W5A4;H7C2N4;H7C2T0;H7C3B0;Q7Z624 ABBA01075107;ABBA01075108;ABBA01075109;ABBA01075110;ABBA01075111;ABBA01075112;ABBA01075113;ABBA01075114;ABBA01075115;ABBA01075116;AC012455;AC016703;AC019184;AC067957;AI933944;AK027104;AMYH02003707;AMYH02003708;AMYH02003709;AMYH02003710;AMYH02003711;AMYH02003712;BC029359;BC053733;CH471053;DA760277;DB461740;NG_032944;NM_024766;XM_005264567 AAH29359;AAH53733;AAX88866;AAX93163;ADQ32074;BAB15658;EAX00272;EAX00273;EAX00274;NP_079042;Q7Z624;XP_005264624 Hs.468349 1664466;1668498;1672490;1705402;1705580;1707088;1708566;1711254;1726917;1727743;1734214;1734216;1734218;1789560;1856133;2114677;2137644;2158280;2160949;2164561;2185891;5019837;5093742 A009V46;A010A13;AFM210XE9;D2S1485;D2S1486;D2S1487;D2S1830;D2S4016;G32897;G33043;G62702;G63136;RH10992;RH16227;RH47074;RH69636;SHGC-10607;SHGC-81302;SHGC-83564;SHGC-83898;SHGC-84990;SHGC-85069;WI-18144 C2orf34;CLNMT;CaM KMT;Cam;FLJ23451;KMT OTTHUMP00000158959;calmodulin methyltransferase;hypothetical protein LOC79823 APPROVED protein-coding ENSG00000143919 HGNC:26276 08028 609559 REVIEWED 736174 CAMK2D calcium/calmodulin-dependent protein kinase II delta The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008] 4 4 4 q26 111663868 111974821 - 114372188 114683669 - 113451032 113761927 - 1580863;6480464;6484113;6907045;6907065;7240705;7240708;8554872 20638246;22717267;23091085 10189359;10373510;10525155;10819240;10852918;11013247;11264466;11889801;11972023;12145273;12477932;12676813;12676814;12815021;14622581;14702039;14722083;15345747;15489334;16120608;16185778;16344560;16436603;16767219;17081983;17157285;17179159;17192257;17353931;17620599;18218981;18311135;18457437;18832449;19132087;19482609;19615732;19946888;20332099;20379614;20442409;20668654;20814023;21139048;21150319;21447778;21491429;21890473;21906983;21988832;22270398;22623531;22939624;23000965;23218918;23283722;23443559;23602568;24030498;24196533;24292274;24302721;24654937;8404858;8615909;8665664;9060999;9115241;9165051;9481670;9692886;9847074 817 D6R938;E9PBG7;E9PF82;H0Y9C2;H0Y9J2;Q13557 AB209288;ABBA01063833;ABBA01063834;AC004056;AC004168;AC093900;AC107386;AF071569;AI004608;AI057019;AJ252239;AK025368;AK055642;AK294517;AL120285;AMYH02009949;AMYH02009950;AY987011;BC022558;BC032784;BX538071;BX647363;CA416772;CF551834;CH471057;DA113081;EF139846;NM_001221;NM_172114;NM_172115;NM_172127;NM_172128;NM_172129;U50361;U73738;XM_005263251;XM_005263252;XM_005263253;XM_005263254;XM_005263255;XM_005263256;XM_005263257;XM_005263258;XM_005263260;XM_005263261;XM_006714329;XM_006714330 AAB16866;AAB18327;AAD20442;AAH22558;AAH32784;AAX88806;ABM86181;ABW03692;BAD92525;BAG51545;BAH11796;CAB65123;EAX06295;EAX06296;EAX06297;EAX06298;EAX06299;EAX06300;EAX06301;NP_001212;NP_742112;NP_742113;NP_742125;NP_742126;NP_742127;Q13557;XP_005263308;XP_005263309;XP_005263310;XP_005263311;XP_005263312;XP_005263313;XP_005263314;XP_005263315;XP_005263317;XP_005263318;XP_006714392;XP_006714393 Hs.144114 1338395;1643907;1646019;1646021;1663537;1667157;1674157;1675692;1682772;1715021;1735404;1848827;1850468;1857648;2111143;2117910;2123851;2125003;2128949;2135719;2141589;2145774;2156343;2179941;2187384;5093620;5094022;5494159;7187551 A009S43;A010A47;D4S1366;D4S1497E;D4S1611;D4S2577E;D4S3165;D4S3167;D4S448;D4S967;EST02144;G32826;G33061;RH120847;SHGC-23829;SHGC-23830;SHGC-24808;SHGC-30317;SHGC-30731;SHGC-50558;SHGC-50970;SHGC-58101;SHGC-67300;SHGC-8542;SHGC-8607;STS-H54295;STS-R98767;fb62d09.x1 CAMKD;DKFZp686G23119;DKFZp686I2288;MGC44911 CaM kinase II delta subunit;CaM-kinase II delta chain;CaMK-II delta subunit;OTTHUMP00000163829;OTTHUMP00000163830;OTTHUMP00000163831;OTTHUMP00000220381;OTTHUMP00000220382;OTTHUMP00000220383;OTTHUMP00000220385;OTTHUMP00000220386;OTTHUMP00000220389;caM kinase II subunit delta;caMK-II subunit delta;calcium/calmodulin-dependent protein kinase (CaM kinase) II delta;calcium/calmodulin-dependent protein kinase ii, delta;calcium/calmodulin-dependent protein kinase type II delta chain;calcium/calmodulin-dependent protein kinase type II subunit delta APPROVED protein-coding ENSG00000145349 HGNC:1462 09653 607708 REVIEWED 1321992 CAMSAP1 calmodulin regulated spectrin-associated protein 1 ENCODES a protein that exhibits microtubule binding; spectrin binding; calmodulin binding (ortholog); INVOLVED IN cytoskeleton organization; neuron projection development; regulation of cell morphogenesis; ASSOCIATED WITH Melanoma (inferred); FOUND IN microtubule; INTERACTS WITH 17beta-estradiol; 2-methylcholine; arsenite(3-) 9 9 9 q34.3 109218269 109316951 - 138700333 138799060 - 135808487 135907214 - 737633;6480464;8554872 12477932 14702039;15231748;19508979;21890473;24706919 157922 Q5T5Y3;Q9P1D5 ABBA01030047;ABBA01030048;AF116701;AJ420438;AJ519841;AK025533;AK055790;AL117634;AL158822;AL353636;AL355574;AL834528;AMYH02021883;AMYH02021884;AMYH02021885;AW448941;BC010646;BC012778;BC040549;BC130580;BC144082;BU949503;CH471090;NM_015447;XM_005263396;XM_005263397 AAF71121;AAH10646;AAH12778;AAI30581;AAI44083;CAB56024;CAD39184;CAD58627;EAW88183;EAW88184;EAW88185;EAW88186;NP_056262;Q5T5Y3;XP_005263453;XP_005263454 Hs.522493 1662017;1668288;1735900;1735914;1775683;1786890;1787130;2114573;2116049;2125177;2137593;2157856;2158180;2181995;2181997 A004G46;A005O30;D9S1042E;D9S1053E;D9S1146;G20380;RH18182;RH70341;RH78822;SGC30172;SHGC-101598;SHGC-155357;SHGC-36022;STS-R16148;WI-20957 DKFZp434F195;DKFZp434G2311;FLJ31228;MGC163452;PRO2405;RP11-100C15.2;bA100C15.1 OTTHUMP00000022559;OTTHUMP00000202115;OTTHUMP00000202116;bA100C15.1 (novel protein);calmodulin-regulated spectrin-associated protein 1 protein-coding ENSG00000130559 HGNC:19946 13001 613774 VALIDATED 6481052 CAMTA1-IT1 CAMTA1 intronic transcript 1 (non-protein coding) p36.23 100874340 AA884076;Z97987 Hs.733842 ncrna HGNC:41446 1343513 CAMP cathelicidin antimicrobial peptide This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. In addition to its antibacterial, antifungal, and antiviral activities, the encoded protein functions in cell chemotaxis, immune mediator induction, and inflammatory response regulation. [provided by RefSeq, Sep 2014] 3 3 3 p21.3 48215428 48217541 + 48264837 48266981 + 48223347 48225491 + 1580863;2316243;2316237;6480464;6907045;8554872 17142779;19879657 10225921;10858248;11015447;11049988;11238224;11389039;11544322;11753073;11796631;11972628;12101274;12244186;12351523;12366839;12375270;12445197;12454100;12477932;12578451;12603850;12612195;12625579;12713586;12759353;12767238;12782669;12860195;14561157;14978112;15004180;15067080;15222757;15322010;15364108;15489334;15500911;15531744;15591123;15609314;15645239;15661923;15675959;15717688;15778390;15778507;15864780;15953032;16034119;16177113;16177355;16236890;16456005;16493063;16497887;16630942;16645154;16750994;16751768;16764694;16926414;16998135;17012259;17015740;17041145;17181861;17207965;17400609;17621825;17627504;17675463;17676051;17709140;17764778;17805349;17873860;17882905;17922409;17943182;17960624;18059019;18166145;18200058;18258235;18490458;18579695;18657865;18703682;18717821;18765670;18818205;18936485;19014773;19056867;19133797;19166322;19183447;19234121;19245866;19263072;19265148;19346112;19389235;19390494;19527294;19531482;19542465;19625657;19645825;19703986;19750480;19800862;19808939;19812202;19894716;19949065;20042575;20054823;20090765;20097832;20140902;20190140;20375583;20556966;20600427;20610648;20624254;20646232;20653851;20661475;20685090;20849904;20970965;21179490;21211790;21463582;21470491;21518024;21529380;21562016;21685939;21713010;21732986;21790937;21832078;21850017;21858032;21988832;22023339;22036268;22039520;22069323;22095714;22184422;22246800;22336091;22516952;22674298;22695798;22759465;22781454;22815956;22841393;22901663;22927244;22943069;23038277;23045480;23052388;23095809;23100468;23142587;23217559;23241112;23246832;23267025;23274176;23283724;23328115;23332157;23383108;23406372;23406612;23424670;23452544;23499548;23760318;23766266;23834289;23953711;24117320;24286516;24291709;24383796;24454930;24666281;24736410;24771854;24821067;7529412;7615076;7624374;7890387;8681941;8946956;9182550;9689116 820 J3KNB4;P49913 AA635187;ABBA01024653;AC104190;AMYH02006713;AY162210;AY251531;BC055089;BU074012;CH471055;CR457083;CR541961;GM949500;NM_004345;U19970;U48795;X89658;X96735;Z38026 AAA74084;AAC02634;AAH55089;AAN78318;AAP20054;ADQ32148;CAA61805;CAA86115;CAG33364;CAG46759;CAV11903;EAW64854;NP_004336;P49913 Hs.51120 2147727 SHGC-76929 CAP-18;CAP18;CRAMP;FALL-39;FALL39;HSD26;LL37;hCAP-18 18 kDa cationic antimicrobial protein;OTTHUMP00000164805 APPROVED protein-coding ENSG00000164047 HGNC:1472 02722 600474 REVIEWED 1318785 CAMTA1 calmodulin binding transcription activator 1 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Anteverted nares (inferred); Autosomal dominant inheritance (inferred); Bulbous nose (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 1 1 1 p36.31-p36.23 5960132 6937492 + 6845384 7829766 + 6785324 7769706 + 1580863;6480464;8699517;7240710;8554872 10048485;11925432;12168954;12477932;12964007;15138581;15174051;15709179;16710414;17222547;17470457;18029348;18210030;19336475;19851296;19913121;20125193;20198315;20379614;20628086;21385898;21584898;21857646;21951953;22429593;22693284;22699663;23000965;23362303;24324551 23261 G3V297;H0YJG5;H0YJK7;H0YJR7;H0YJV1;H0YJY7;Q9Y6Y1 AA757826;AB020640;ABBA01035467;ABBA01035468;ABBA01035469;ABBA01035470;ABBA01035471;ABBA01035472;ABBA01035473;ABBA01035474;ABBA01035475;ABBA01035476;ABBA01035477;ABBA01035478;ABBA01035479;ABBA01035480;ABBA01035481;ABBA01035482;ABBA01035483;ABBA01035484;ABBA01035485;ABBA01035486;ABBA01035487;ABBA01035488;ABBA01035489;AF086286;AF111804;AI278074;AK302088;AK309727;AL157716;AL359881;AL365194;AL512330;AL590128;AL596210;AL683812;AMYH02000185;AMYH02000186;AMYH02000187;AMYH02000188;AMYH02000189;AMYH02000190;AMYH02000191;AMYH02000192;AMYH02000193;AMYH02000194;AMYH02000195;AMYH02000196;AW956937;AY037153;AY349360;BC038183;BC051341;BC116457;BC151835;BG027385;BM470492;CD103791;KF495826;KF495853;KF495855;KF510205;KF510731;NM_001195563;NM_001242701;NM_015215;NR_038934;XM_006710482;XM_006710483;XM_006710484;Z97635;Z97987;Z98052;Z98884 AAH51341;AAI16458;AAI51836;AAK67633;AAL39006;AAQ56724;BAA74856;BAG63475;NP_001182492;NP_001229630;NP_056030;Q9Y6Y1;XP_006710545;XP_006710546;XP_006710547 Hs.397705;Hs.671020 1298152;1338235;1338668;1338882;1338999;1339362;1339510;1339969;1655606;1670884;1672909;1686626;1691948;1692978;1695246;1695380;1698848;1706214;1711156;1732701;1732870;1732886;1732990;1733046;1733050;1740583;1740585;1754467;1759483;1762921;1765719;1781480;1781768;1788952;1849830;2113506;2118305;2120955;2125405;2137834;2145904;2163221;2173633;5015147;7187931 AL009308;AL009326;AL009713;AL009845;AL033595;AL034206;BZ907149;D1S113;D1S1192;D1S1297;D1S1306;D1S1365;D1S1398;D1S1400;D1S1646;D1S214;D1S2586;D1S2642;D1S2663;D1S2666;D1S2694;D1S508;D1S548;D1S95;G06229;G16217;G65551;RH102988;RH44468;RH98600;SHGC-132293;SHGC-132739;SHGC-146676;SHGC-149152;SHGC-150713;SHGC-152712;SHGC-155570;SHGC-31020;SHGC-62954;SHGC-68426;SHGC-74143;SHGC-74163;SHGC-80636;SHGC-85316 CANPMR;KIAA0833 OTTHUMP00000001352;OTTHUMP00000244035;OTTHUMP00000244036;OTTHUMP00000244038;calmodulin-binding transcription activator 1 protein-coding ENSG00000171735 HGNC:18806 16681 611501;614756 VALIDATED 1346126 CANDN1 candidiasis, nail 1 (with ICAM1 deficiency) ASSOCIATED WITH Candidiasis, Familial, 3 (inferred) 7240710 12205111;12774035 338434 HGNC:20683 607644 1604039 CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2 ENCODES a protein that exhibits microtubule minus-end binding; INVOLVED IN microtubule cytoskeleton organization; regulation of organelle organization; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene diol epoxide I 1 1 1 q32.1 173831311 173953903 + 200708686 200829832 + 200739558 200860704 + 6480464;8554872 10470851;12107410;12477932;14702039;15345747;15561718;15897902;16713569;19322201;19508979;20195357;21139048;22116939;24148305;24706919;24908486 23271 B3KTI4;H0Y4Z1;H0YE13;Q08AD1 AA625716;AB029001;ABBA01027542;ABBA01027543;ABBA01027544;ABBA01027545;ABBA01027546;AF087998;AK026348;AK095640;AK126821;AL110158;AL450104;AMYH02002472;AMYH02002473;AMYH02002474;BC011385;BC029449;BC045721;BC056910;BC065508;BC125229;BC125230;CA388618;CH471067;H14341;NM_001297707;NM_001297708;NM_203459;XM_005245040;XM_005245041;XM_005245042 AAH11385;AAH56910;AAI25230;AAI25231;BAA83030;BAG53096;BAG54376;CAB53664;EAW91320;EAW91321;NP_001284636;NP_001284637;NP_982284;Q08AD1;XP_005245097;XP_005245098;XP_005245099 Hs.23585 1675461;1696910;1709560;2114213;2155623;2167056;2172375 RH101923;RH92112;SHGC-33046;SHGC-76118;SHGC-76122;SHGC-76143;SHGC-81869 CAMSAP1L1;KIAA1078;MGC150680;MGC150681;RP11-93N17.1 OTTHUMP00000033885;OTTHUMP00000033922;OTTHUMP00000038644;calmodulin regulated spectrin-associated protein 1-like 1;calmodulin-regulated spectrin-associated protein 1-like protein 1;calmodulin-regulated spectrin-associated protein 2 APPROVED protein-coding ENSG00000118200 HGNC:29188 11124 613775 VALIDATED 1316325 CAMSAP3 calmodulin regulated spectrin-associated protein family, member 3 ENCODES a protein that exhibits microtubule minus-end binding; INVOLVED IN epithelial cell-cell adhesion; microtubule anchoring; microtubule cytoskeleton organization; PARTICIPATES IN E-cadherin signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; cytoplasm; zonula adherens; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cyclosporin A 19 19 19 p13.2 7533272 7554380 + 7660774 7683196 + 7595888 7618310 + 6480464;6484113;8554872 10819331;11318610;12477932;15302935;15489334;16169070;16964243;19041742;19041755;19389623;19508979;21900206;23084401;8889548 57662 D6W648;Q8WZ12;Q9P1Y5 AB040976;ABBA01010894;ABBA01010895;ABBA01010896;ABBA01010897;ABBA01010898;AC008763;AF289580;AL833927;AMYH02035400;AMYH02035401;AMYH02035402;AMYH02035403;BC020431;BC035808;BC036935;BC064490;BC128201;BC128202;BU733578;CH471139;NM_001080429;NM_020902;XM_005272491;XM_006722806 AAI28202;AAI28203;AAL55764;BAA96067;CAD38783;EAW69025;EAW69026;EAW69027;EAW69028;NP_001073898;NP_065953;Q9P1Y5;XP_005272548;XP_006722869 Hs.17686 1334745;1336406;1851658;2111097;2137045 D19S388E;D19S76;D19S905;RH47063;SGC33793 KIAA1543;PPP1R80 NEZHA;calmodulin-regulated spectrin-associated protein 3 APPROVED protein-coding ENSG00000076826 HGNC:29307 612685 VALIDATED 1322678 CAMTA2 calmodulin binding transcription activator 2 The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010] 17 17 17 p13.2 4886098 4905775 - 4871287 4890960 - 4967992 4987673 - 1580863;6480464 10048485;11925432;12477932;15489334;16344560;16678087;16678093;17046230;17689537 23125 B7ZM30;I3L146;I3L2A1;I3L3V0;I3L3W6;O94983 AB020716;ABBA01054785;ABBA01054786;ABBA01054787;AC004771;AK302528;AK307947;AK308666;AL831849;AL833974;AMYH02032838;BC010050;BC016163;BC032381;BC136534;BC142606;BC142695;BC144232;BC167148;BC167149;BC167151;BC167160;BI548947;DB275145;NM_001171166;NM_001171167;NM_001171168;NM_015099;XM_006721478;XM_006721479;XM_006721480;XM_006721481;XM_006721482 AAH10050;AAH16163;AAH32381;AAI36535;AAI42696;AAI44233;AAI67148;AAI67149;AAI67151;AAI67160;ACE86799;ACE87486;BAA74932;BAG63801;CAD38553;CAD38818;NP_001164637;NP_001164638;NP_001164639;NP_055914;O94983;XP_006721541;XP_006721542;XP_006721543;XP_006721544;XP_006721545 Hs.632242 1698914;2218746;5022921;5491256 CAMTA2__4500;MARC_6523-6524:992007271:1;RH103026;ksks155 KIAA0909 OTTHUMP00000125265;calmodulin-binding transcription activator 2 APPROVED protein-coding ENSG00000108509 HGNC:18807 13002 611508 VALIDATED 733696 CAND1 cullin-associated and neddylation-dissociated 1 ENCODES a protein that exhibits TBP-class protein binding (inferred); INVOLVED IN cell differentiation; negative regulation of catalytic activity; protein ubiquitination; PARTICIPATES IN neddylation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cullin-RING ubiquitin ligase complex; cytoplasm; extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; formaldehyde 12 12 12 q14 67327070 67372407 + 67663061 67708388 + 67269281 67314608 + 1559298;6480464;8554872 15209382 10048485;10581176;10931946;11230166;11278995;12207886;12477932;12504025;12504026;12609982;12684064;12706828;14702039;15208391;15448697;15489334;15537541;16036220;16303743;16344560;16861300;16964240;17079684;17110338;17438373;17439941;17643375;18173839;18606781;18781797;18826954;19056867;19193609;19295130;19454010;19596686;19615732;19668339;19738201;19946888;20473970;20562859;20820187;21081666;21139048;21145461;21149631;21169563;21249194;21252943;21319273;21778237;21890473;21906983;22013077;22032989;22053931;22261722;22360420;22405651;22474075;22767593;22863883;22902628;22990118;23000965;23019411;23022380;23181366;23328082;23453757;23602568;23862649;24192928;24337577;24816145;25027693;8954946 55832 F5H6I6;H0YH27;Q86VP6 AB020636;ABBA01026566;ABBA01026567;AC012518;AC078983;AF157326;AK000976;AK001791;AK027404;AK027783;AK074922;AK096010;AK129780;AK292456;AK314358;AL133560;AL136810;AL833880;AMYH02026689;BC004232;BC026220;BC050341;CH471054;DB064887;DB098973;NM_018448 AAF67492;AAH04232;AAH26220;AAH50341;ACE86847;ACE87534;BAA74852;BAB55090;BAB55365;BAF85145;BAG36990;BAG50842;BAG50975;CAB63714;CAB66744;CAD38737;EAW97171;EAW97172;NP_060918;Q86VP6 Hs.546407 1686140;1713925;1746735;1849539;1851984;2126610;2139099;2183899 D12S868;G64814;RH11001;RH119392;RH80154;STS-N47220;WI-12457;WI-13881 DKFZp434M1414;FLJ10114;FLJ10929;FLJ38691;FLJ90441;KIAA0829;TIP120;TIP120A OTTHUMP00000240019;TBP interacting protein;TBP-interacting protein 120A;TBP-interacting protein of 120 kDa A;cullin-associated NEDD8-dissociated protein 1;cullin-associated and neddylation-dissociated protein 1;p120 CAND1 protein-coding HGNC:30688 06983 607727 VALIDATED 733192 CAND2 cullin-associated and neddylation-dissociated 2 (putative) ENCODES a protein that exhibits TBP-class protein binding (inferred); INVOLVED IN positive regulation of transcription, DNA-templated (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular; INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; paracetamol 3 3 3 p25.2 12776461 12814604 + 12838171 12876313 + 12796672 12834814 + 6480464;8554872 10441524;11278995;12207886;12477932;12692129;16641997;19159115;20736409;21139048;21169563;21890473;21906983;22190034;22613845;22952844;23181366;23864651;23951410;9734811 23066 C9JH00;F8WBB8;O75155 AB014567;ABBA01025188;ABBA01025189;AC034198;AMYH02006301;AMYH02006302;BC136592;BE256308;BX502783;BX648800;CH471055;DB471722;DR001490;GU727621;NM_001162499;NM_012298;W44800 AAI36593;ADU87623;BAA31642;EAW64143;NP_001155971;NP_036430;O75155 Hs.343664 1671993;1680296;1855525;2112560;2112680;2112682;2185840 D3S4338;D3S4400;D3S4401;RH93304;SHGC-32188;SHGC-76713;WI-21041 KIAA0667;TIP120B;Tp120b OTTHUMP00000207913;OTTHUMP00000209387;TBP interacting protein;TBP-interacting protein 120B;TBP-interacting protein of 120 kDa B;cullin-associated NEDD8-dissociated protein 2;cullin-associated and neddylation-dissociated protein 2;epididymis tissue protein Li 169;p120 CAND2;tbp-interacting protein tip120b protein-coding ENSG00000144712 HGNC:30689 610403 VALIDATED 5489226 CAP1P1 CAP1 pseudogene 1 3 3 3 p12.3 77228388 77229795 + 76483169 76484576 + 76434018 76435425 + 401076 ABBA01031000;AC026877;AMYH02007093;NG_022250;NG_027734 pseudo HGNC:31134 INFERRED 5489259 CAP1P2 CAP1 pseudogene 2 10 10 10 q11.21 40103930 40105288 - 44100294 44101652 - 43604846 43606204 - 399748 ABBA01050012;AL645634;AMYH02022716;NG_022144 pseudo HGNC:31970 INFERRED 1348972 CANT1 calcium activated nucleotidase 1 This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010] 17 17 17 q25.3 73585975 73604118 - 76987798 77005899 - 78991716 79009817 - 631908;1580863;6480464;6907045;7240710;8554872 12167635 12234496;12477932;12600208;12676900;12761501;14702039;15006348;15211652;15248776;15489334;16303743;16751776;18067325;18222531;18451133;18854154;19853239;19948975;21037275;21412251;21435463;21654728;22539336;22797925;24250222 124583 K7EIP9;K7EKT2;K7EKW6;K7EMT2;K7EN15;K7EQD4;K7EQT4;Q8WVQ1 AB097006;AB097033;ABBA01002907;ABBA01002908;AC073624;AC100788;AF328554;AJ312208;AK026161;AK074687;AK295930;AMYH02034080;BC005104;BC017655;BC065038;BC118563;CH471099;CQ783584;DC355691;DQ578890;DQ582927;DQ585977;DQ595190;NG_016645;NM_001159772;NM_001159773;NM_138793;XM_005257020;XM_005257021;XM_005257022;XM_006721682;XM_006721683;XR_243633 AAH05104;AAH17655;AAH65038;AAM94564;BAC11139;BAC77359;BAC77386;BAG58716;CAC85468;CAF86751;EAW89548;EAW89549;EAW89550;EAW89551;EAW89552;EAW89553;EAW89554;EAW89555;NP_001153244;NP_001153245;NP_620148;Q8WVQ1;XP_005257077;XP_005257078;XP_005257079;XP_006721745;XP_006721746 Hs.8859 1340599 D17S1806 DBQD;SCAN-1;SCAN1 Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase;SHAPY;apyrase homolog;micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification;putative MAPK-activating protein PM09;putative NF-kappa-B-activating protein 107;soluble Ca-activated nucleotidase, isozyme 1;soluble calcium-activated nucleotidase 1;soluble calcium-activated nucleotidase SCAN-1 APPROVED protein-coding ENSG00000171302 HGNC:19721 13003 251450;613165 REVIEWED 1346127 CAP2P1 CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1 14 14 14 q31.3 69803981 69806194 - 89755862 89758075 - 89289518 89291731 - 353163 ABBA01030520;AL157736;AL357093;AMYH02029705;NG_002772 pseudo HGNC:20142 INFERRED 1349457 CAP1 CAP, adenylate cyclase-associated protein 1 (yeast) The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p34.2 38788546 38820608 + 40505912 40538321 + 40040583 40072649 + 1580863;2326238;6480464 19188911 11557983;11950878;12477932;12665801;1406678;14702039;15311924;15489334;16289162;16341674;16710414;16807684;17900295;18330356;18671965;18716285;19056867;19738201;20416077;20471030;21139048;21800051;21890473;22304920;22586326;22863883;22939629;22990118;23000965;23182705;23737525;23842884;23904342;24509166;24522810;24816145;25015289;7962207;8125298;8761950 10487 D3DPU2;Q01518;Q5T0R1;Q5T0R2;Q5T0R3;Q5T0R4;Q5T0R5;Q5T0R6;Q5T0R7;Q5T0R8;Q5T0R9;Q5T0S3 ABBA01023190;AK096193;AK222513;AK295396;AK297829;AK298094;AK298110;AK300861;AK315731;AL512599;AMYH02000841;AMYH02000842;BC013963;BC020367;BC095440;BI460362;BM772471;BP391532;BT007152;CH471059;CR457409;L12168;M98474;NM_001105530;NM_006367;XM_005270367;XM_005270368;XM_006710294 AAA35507;AAA35648;AAH13963;AAH95440;AAP35816;ABM81586;ABM84766;BAD96233;BAG38086;BAG58350;BAG60165;BAG60379;BAG60395;BAG62510;CAG33690;EAX07239;EAX07240;EAX07241;EAX07242;EAX07243;EAX07244;EAX07245;NP_001099000;NP_006358;Q01518;XP_005270424;XP_005270425;XP_006710357 Hs.370581 1649851;1723535;2115796;2129011;2151518;2176157;5124079 D1S1857E;D1S2572;G16306;RH118585;RH69007;SHGC-74659;WI-12268 CAP;CAP 1;CAP1-PEN OTTHUMP00000004820;OTTHUMP00000004821;OTTHUMP00000004822;OTTHUMP00000004823;OTTHUMP00000004824;OTTHUMP00000004825;adenylyl cyclase-associated protein 1 APPROVED protein-coding ENSG00000131236 HGNC:20040 09869 614849 REVIEWED 1323330 CAPG capping protein (actin filament), gelsolin-like This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012] 2 2 2 p11.2 85450057 85465950 - 85621871 85641197 - 85394748 85414074 - 1580863;6480464;8554872 11337467;11694586;12477932;12637565;12754261;1322908;15454578;15489334;16767159;17081065;18029348;18059028;18237446;18266911;18461482;18709641;18938132;19011242;19056867;19166812;19188659;19242827;19439302;19454010;21768101;21906983;21908955;22155129;22190510;23085225;23782053;23874603;24654937;7814409;7851883;8125298;9160743 822 B2R9S4;B4DU58;B8ZZL6;E7ENU9;H7C0X8;P40121;V9HW69 ABBA01075748;ABBA01075749;AC062037;AK130130;AK225374;AK225378;AK300507;AK309290;AK313898;AMYH02004181;AU099216;BC000728;BC014549;BU626913;CH471053;FJ224312;M94345;NM_001256139;NM_001256140;NM_001747;U12026;XM_005264581;XM_005264582 AAA59570;AAA92670;AAH00728;AAH14549;AAY24128;ABM83089;ABM86283;ACI46004;BAG36621;BAG62220;EAW99517;EAW99518;EAW99519;EAW99520;NP_001243068;NP_001243069;NP_001738;P40121;XP_005264638;XP_005264639 Hs.516155 2160884;5491818 CAPG;WI-17489 AFCP;HEL-S-66;MCP OTTHUMP00000203056;OTTHUMP00000203057;OTTHUMP00000203058;OTTHUMP00000203059;OTTHUMP00000203060;OTTHUMP00000203061;OTTHUMP00000203063;actin regulatory protein CAP-G;actin-regulatory protein CAP-G;epididymis secretory protein Li 66;gelsolin-like capping protein;macrophage capping protein;macrophage-capping protein APPROVED protein-coding ENSG00000042493 HGNC:1474 01088 153615 REVIEWED 733378 CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008] 6 6 6 p22.3 18632068 18796067 + 17393447 17558023 + 17393505 17557792 + 1580863;6480464;8554872 12477932;15231748;15489334;17000669;18391951;20936779;21139048;22863883;23000965;23022774;7962207;8761950 10486 B7Z385;E9PDI2;F8WDB9;F8WEW0;P40123;Q5JPJ8 ABBA01022212;ABBA01022213;ABBA01022214;ABBA01022215;ABBA01022216;ABBA01022217;ABBA01022218;ABBA01022219;ABBA01022220;ABBA01022221;AI928000;AK293134;AK294215;AK295600;AK297538;AK308461;AK312362;AL034372;AL138824;AL832154;AMYH02013198;AMYH02013199;AMYH02013200;AMYH02013201;AMYH02013202;BC008481;BF791244;BI667914;CH471087;CR457022;NM_006366;U02390 AAA20587;AAH08481;ABM84679;ABM92205;BAG35280;BAH11460;BAH11700;BAH12121;BAH12609;CAG33303;CAI46134;EAW55380;NP_006357;P40123 Hs.132902 1339091;1339355;1678261;1712821;2108715;2140617;2172808;2172810 1874;A006B38;CAP2_9120;D6S1567;D6S966;G20684;RH120127;RH79700 CAP 2 2810452G09Rik;OTTHUMP00000016069;OTTHUMP00000214354;OTTHUMP00000214357;OTTHUMP00000214358;adenylyl cyclase-associated protein 2 APPROVED protein-coding ENSG00000112186 HGNC:20039 10808 REVIEWED 737068 CANX calnexin This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 5 5 5 q35 174751027 174783690 + 179125019 179158642 + 179698929 179731641 + 1580863;2314284;6480464;6907045;8554872 18567819 10364189;10364201;10436013;10461883;10601334;10636893;10671537;10873786;10929008;11054417;11054427;11350933;11506858;11566319;11583625;11751874;11756446;11765911;11851433;11901144;11917123;12052826;12119418;12208510;12222674;12239218;12359150;12383251;12477932;12507291;12562843;12582175;12610305;12610306;12643545;12805210;1286667;1326756;14498830;14732231;14732708;14966132;14980518;15105504;15161937;15231748;15236594;15261665;15467828;15489334;15537650;15557823;15923638;16002696;16061483;16169070;16196087;16257961;16304048;16361248;16546175;16565220;16858427;16938437;16968747;17081065;17081983;17110338;17170088;17203246;17215244;17220478;17360537;17380188;17387721;17395585;17467700;17569659;17728248;17872946;17948026;18029348;18303019;18367207;18417615;18716059;18781797;18791162;19054761;19135240;19322201;19342655;19471022;19524015;19651773;19723497;19801547;19815548;19946888;20202930;20360068;20506117;20528919;20720009;20801878;21081644;21081666;21139048;21145461;21205830;21223948;21252943;21343306;21362330;21632540;21693764;21757827;21842374;21890473;21906983;21963094;22053931;22065046;22113938;22190034;22222883;22242185;22268729;22304920;22314232;22337587;22354994;22505724;22586326;22905195;22915798;22939629;23000965;23125841;23166591;23233672;23246001;23383273;23464991;23514740;23569223;23798571;23932718;24056258;24303155;24332808;24457600;24550385;24583282;24639526;24680774;24816145;25027693;7513695;8055875;8136357;8163531;8278814;8486646;8549676;8550632;8551575;8619474;8621641;8662691;8790377;8910335;9024687;9050874;9110174;9295027;9312001;9525969;9528938;9545232;9642271;9642293;9717723;9765244;9925657 821 D6RAQ8;D6RAU8;D6RB85;D6RD16;D6RDP7;D6RFL1;D6RFW4;D6RG29;D6RGY2;D6RHJ3;H0Y9H1;H0Y9Q7;P27824 ABBA01010032;ABBA01010033;ABBA01010034;ABBA01010035;AC113426;AF070646;AJ271880;AK129990;AK130080;AK294702;AK304420;AK312334;AMYH02012887;AMYH02012888;BC003552;BC042843;BC050534;CH471165;JA462402;L10284;L18887;M94859;M98452;NM_001024649;NM_001746 AAA21013;AAA21749;AAA35696;AAA36125;AAH03552;AAH42843;ABM84720;ABM92244;BAC85269;BAG35255;BAG57859;BAG65250;CAB72137;CCD35249;EAW53802;EAW53803;EAW53804;EAW53805;NP_001019820;NP_001737;P27824 Hs.567968 1653593;1769655;1849556;2112208;2119090;2139140;2171534;2181088 108;D5S2779;RH16379;RH17758;RH44837;SHGC-12400;SHGC-52564;STS-N25670 CNX;FLJ26570;IP90;P90 OTTHUMP00000161516;OTTHUMP00000223184;OTTHUMP00000223187;major histocompatibility complex class I antigen-binding protein p88 APPROVED protein-coding ENSG00000127022 HGNC:1473 00252 114217 REVIEWED 1316482 CAPN12 calpain 12 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012] 19 19 19 q13.2 36022825 36037032 - 39220832 39235114 - 38730192 38744474 - 6480464;8554872 10964513;12477932;14702039;23867815 147968 M0QXJ6;M0QZ20;M0QZT6;M0R052;M0R0X4;M0R3D7;Q6ZSI9 ABBA01040692;ABBA01040693;AC022144;AK125713;AK127398;AMYH02036078;AMYH02036079;BC014027;BC040022;BE872274;CH471126;NM_144691 AAI40398;AAI53094;BAC86959;EAW56813;EAW56814;EAW56815;EAW56816;NP_653292;Q6ZSI9 Hs.731775 1854288;2180935 RH16012;SHGC-16522 MGC20576 CANP 12;calcium-activated neutral proteinase 12;calpain-12 APPROVED protein-coding ENSG00000182472 HGNC:13249 07007 608839 VALIDATED 736980 CAPN1 calpain 1, (mu/I) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 11 11 11 q13 62275660 62305793 + 64948686 64979477 + 65181215 65212006 + 1580863;1626249;6480464;6907045;8554872 17429681 10521480;10677567;10830966;10846184;10978167;11516996;11861304;12000759;12121992;12150984;12200134;12358155;12393869;12432277;12477932;12591934;12684003;12843408;14559243;14612448;14702039;14980313;15131115;15231747;15302874;15471877;15488707;15489334;15590628;15663601;15809056;15935327;15948206;15950654;15975558;16107503;16150694;16344560;16361262;1656060;16598790;16697376;16737952;16740134;16908521;17121855;17157313;17195093;17359359;17620599;17690304;17716656;17765980;17897354;17908236;17977825;18029348;18032503;18070881;18071073;18085799;18165173;18468730;18498295;18624398;18624772;18726991;18793761;18806756;18823990;19022302;19056867;19457105;19458911;19617626;19712109;19738201;19901552;19946330;20034566;20041182;20193680;20398180;20514436;20518497;20557290;20659425;20679491;20933204;20962236;21139048;21209906;21252943;21268016;21305563;21315622;21374734;21442128;21494752;21516125;21531719;21555338;21808066;21825064;21839844;21876002;21880013;21890473;21906983;21963094;21987572;21988832;2209092;22145905;22190034;22335024;22449977;22477191;22480599;22505724;22586326;22623428;22863883;22990118;23000965;23006733;23289183;23400779;23408424;23443559;23515028;23707532;23733271;23824909;2400579;24413738;24416790;24816145;25027693;2844821;3017764;3038169;7493986;7499244;7592818;8253784;8561910;8695851;8702541;8938448;8954122;8993318;9110986;9852298;9989581 823 B2RDI5;B4DWH5;E9PIA9;E9PJA6;E9PJJ3;E9PL37;E9PLC9;E9PLX0;E9PMC6;E9PQB3;E9PRM1;E9PSA6;P07384 ABBA01024132;ABBA01024133;AK022319;AK025380;AK097277;AK301538;AK311001;AK315556;AMYH02024953;AP003068;AY550975;AY796340;BC008751;BC015091;BC017200;BC075862;BE018156;CH471076;DA788342;DC365116;DC372552;NM_001198868;NM_001198869;NM_005186;NR_040008;X04366;XM_006718698 AAH08751;AAH17200;AAH75862;AAT52221;AAV41878;ABM83831;ABM87599;BAG37932;BAG63037;CAA27881;EAW74366;EAW74367;EAW74368;EAW74369;EAW74370;EAW74371;NP_001185797;NP_001185798;NP_005177;P07384;XP_006718761 Hs.502842;Hs.735492 1738121;1851227;2132979;2167102;2175336;5016596 D11S3744;G33105;GDB:631802;RH11707;RH48703;SGC31567 CANP;CANP 1;CANP1;CANPL1;muCL OTTHUMP00000230448;OTTHUMP00000230452;OTTHUMP00000230453;OTTHUMP00000230454;OTTHUMP00000230461;calcium-activated neutral proteinase 1;calpain 1;calpain mu-type;calpain, large polypeptide L1;calpain-1 catalytic subunit;calpain-1 large subunit;cell proliferation-inducing gene 30 protein;cell proliferation-inducing protein 30;micromolar-calpain;muCANP APPROVED protein-coding ENSG00000014216 HGNC:1476 00253 114220 REVIEWED 1342957 CAPN11 calpain 11 Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008] 6 6 6 p12 45679690 45705285 + 44126548 44152139 + 44158811 44184402 + 1580863;6480464 10340998;10409436;12477932;15489334;16344560;16541461;21988832;2479145;8070630 11131 E9PIX3;E9PQZ4;Q9UMQ6 ABBA01050646;ABBA01050647;ABBA01050648;AJ242832;AK300107;AK309883;AK314054;AL365192;AMYH02013657;BC033733;BG721593;CH471081;DB052011;NM_007058;XM_006714984;XM_006714985;XM_006714986;XM_006714987 AAH33733;ADZ15500;BAG36761;BAG61902;CAB52137;EAX04250;EAX04251;EAX04252;EAX04253;NP_008989;Q9UMQ6;XP_006715047;XP_006715048;XP_006715049;XP_006715050 Hs.225953 1334933;2109105 CAPN11_9225;D6S1650 calpain11 CANP 11;OTTHUMP00000016505;calcium-activated neutral proteinase 11;calpain-11 APPROVED protein-coding ENSG00000137225 HGNC:1478 05315 604822 REVIEWED 7247095 CAPN10-AS1 CAPN10 antisense RNA 1 (head to head) 2 2 q37.3 241522167 241525733 - 240582750 240586316 - 14702039;21254220;23382218 101752400 ABBA01048874;AC124862;AK024254;AL832402;AMYH02006099;HG495355;NR_103792 Hs.585987 RP11-27M15.1;locus959 ncrna ENSG00000260942 HGNC:48839 VALIDATED 732443 CAPN10 calpain 10 Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010] 2 2 2 q37.3 235198477 235210856 + 241526133 241538526 + 240586716 240599109 + 737693;1625047;734686;1625046;1625049;1625050;1580863;1625063;4107073;4107074;6480464;7247733;7247735;7247732;7247734;7247736;7240710;8554872 11018080;11673414;14646187;14658759;16721485;16752174;17106059;18554168;19688040;20178008;20406624;22012129;22568896 11017071;11347906;11350192;11375982;11481585;11522685;11704924;11736815;11756346;11756349;11774208;11836299;11872216;11891023;11891618;11932299;11935160;11978665;11978669;11980626;12046551;12050223;12083814;12107250;12107735;12107745;12133483;12137596;12145185;12161543;12453914;12477932;12519860;12905623;12974673;14500039;14574648;14602801;14642065;14702039;14730479;14741193;14749261;14759258;14974344;15044459;15172858;15240652;15471947;15489334;15641690;15652721;15696376;15793266;15860244;15862281;15926113;16028216;16186407;16306378;16333311;16344560;16377260;16427731;16456802;16546286;16790502;16837224;16857402;16873988;17382509;17454172;17511963;17559371;17560157;17570749;17572128;17601994;17855447;17964829;18167206;18241614;18248681;18367022;18452715;18487065;18683748;18698425;18701098;18722363;18936436;19144693;19193380;19297292;19336475;19337008;19387820;19418728;19491387;19565864;19570442;19578796;19643578;19752882;19948975;20075150;20119856;20142250;20193213;20368234;20470430;20570542;20667559;20682687;20848425;20881413;20923526;21389182;21906115;21988832;22384174;22796443;23021796;23262350;23687414;23994294;24034724;24266779;24779302;9396712 11132 B7WPF5;H7C251;H7C2P1;Q9HC96 AB058748;ABBA01048874;ABBA01048875;AC124862;AF089088;AF089090;AF089091;AF089092;AF089093;AF089094;AF089096;AF158748;AK027330;AK074807;AK128552;AK300279;AL558905;AMYH02006099;AU310002;BC004260;BC007553;BC107088;BI909439;BQ052841;BQ962770;CH471063;DA413480;DA623373;DB224752;NG_011558;NM_023083;NM_023085 AAG17966;AAG17968;AAG17969;AAG17970;AAG17971;AAG17972;AAG17974;AAH04260;AAH07553;AAX88944;ABM84445;ABM87502;BAB47474;BAC11220;BAH13249;EAW71197;EAW71199;EAW71204;EAW71205;EAW71206;NP_075571;NP_075573;Q9HC96 Hs.728234 1667769;1678617;1721391;1776059;1781326;1781328;1781330 G31184;G31185;G31186;G59697;RH46532;RH80243;WI-15718 CANP10;NIDDM1 CANP 10;OTTHUMP00000164509;OTTHUMP00000201396;OTTHUMP00000201422;OTTHUMP00000201424;OTTHUMP00000201425;OTTHUMP00000201427;OTTHUMP00000201428;calcium-activated neutral protease;calcium-activated neutral proteinase 10;calpain-10;calpain-like protease CAPN10 2315054;2315066;2315772 GLUCO131_H;GLUCO132_H;GLUCO146_H APPROVED protein-coding ENSG00000142330 HGNC:1477 05595 601283;605286 REVIEWED 1352333 CAPN14 calpain 14 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008] 2 2 2 p23.1-p21 31238630 31283129 - 31395922 31456724 - 31173056 31226651 - 6480464;8554872 10964513;11675017;14702039;23867815 440854 A8MX76;B7Z467;F1LLU4;G8JLL1 AA743820;ABBA01074852;AC015980;AK092257;AK296910;AL121657;AMYH02003524;DC347418;NM_001145122;XM_006712022 A8MX76;BAG52511;BAH12453;NP_001138594;XP_006712085 Hs.468059 1337052;1721687;1751339;1779030 D2S2283;D2S2741;G59706;SHGC-105147 FLJ54788 CANP 14;OTTHUMP00000201066;calcium-activated neutral proteinase 14;calpain-14 APPROVED protein-coding ENSG00000214711 HGNC:16664 610229 VALIDATED 1315174 CAPN15 calpain 15 This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 778242 804990 + 577816 604636 + 523982 554636 + 1580863;6480464 10524757;11076863;11157797;12477932;15489334;21139048;21890473;21906983;21963094;21987572;22053931;23263863;24250222;8640222;9722942 6650 H3BR03;H3BT55;H3BTS4;O75808 ABBA01030363;ABBA01030364;AE006464;AMYH02031195;AMYH02031196;BC001869;BC011939;BC021854;BC032648;BC040169;BC044259;BC112918;BX341589;CH471112;NM_005632;U69557;U85647;XM_005255514;XM_005255516;XM_005255517;XM_005255518;XM_006720931;XM_006720932;XM_006720933;XM_006720934;XM_006720935;Z97986;Z98882 AAC33822;AAH01869;AAH21854;AAI11933;AAI12919;AAI18502;AAK61233;EAW85803;NP_005623;O75808;XP_005255571;XP_005255573;XP_005255574;XP_005255575;XP_006720994;XP_006720995;XP_006720996;XP_006720997;XP_006720998 Hs.632219 1698932 RH103035 MGC131491;SOLH OTTHUMP00000147599;calpain-15;small optic lobes homolog APPROVED protein-coding ENSG00000103326 HGNC:11182 07220 603267 REVIEWED 1349624 CAPN13 calpain 13 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012] 2 2 2 p22-p21 30788751 30873413 - 30945637 31030383 - 30722771 30807445 - 6480464;8554872 10737800;10964513;11675017;12477932;14702039;15489334;15815621;20379614;20591971 92291 F5GYA7;H7C1Z4;Q6MZZ7 ABBA01074848;ABBA01074849;ABBA01074850;AC092569;AK026692;AK027176;AK074418;AK290298;AK308037;AMYH02003518;AMYH02003519;BC117345;BC117347;BM127691;BX476842;BX640793;BX647678;CH471053;NM_144575 AAI17346;AAI17348;AAX82015;ADR83092;BAB85075;BAF82987;CAE45878;EAX00491;EAX00492;EAX00493;NP_653176;Q6MZZ7 Hs.660911 1336214;1683755;1713973;1715537;1852572 D2S375;RH119416;RH120912;RH47910;SHGC-1668 FLJ23523 CANP 13;OTTHUMP00000201117;OTTHUMP00000201118;calcium-activated neutral proteinase 13;calpain-13 APPROVED protein-coding ENSG00000162949 HGNC:16663 07008 610228 VALIDATED 732800 CAPN2 calpain 2, (m/II) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 1 1 1 q41-q42 197044917 197119643 + 223889295 223963720 + 223701593 223776018 + 1580863;1626249;6480464;6907045;8554872 17429681 10639123;10666632;1067155;10671558;10830966;10944468;10978167;11023826;11387205;11483505;11517928;11673052;11853546;12000759;12070670;12130691;12150984;12477932;12665801;12783889;14559243;14688278;14702039;14976200;14980313;14993287;1527057;15302874;15471877;15489334;15590481;15817486;15950654;16310784;16344560;16361262;16436382;16530191;16598790;16652152;16816119;17192410;17261541;17359359;17596297;17643375;17650508;17897354;18032503;18239623;18332219;18340456;18568448;19056867;19074885;19422794;19720936;19752040;19756344;19861418;19913121;19946123;20041182;20070945;20150423;20193680;20379614;20453000;20618160;20628086;20729206;20730561;20924799;20962236;21086148;21117903;21139048;21152086;21185840;21374734;21839844;21890473;21906983;21963094;22064597;2209092;22335024;22435971;22623320;22629380;22711986;22745213;22863883;22990118;23000965;23140395;23389291;23466492;23538341;23667531;23733271;23889979;23940116;24778252;25027693;2539381;2852952;3038169;8561910;8900201;8954122;9213221;9337844;9407132;9562261;9873017 824 B4DN77;C9JWY7;P17655;Q59EF6 AB209855;ABBA01008155;ABBA01008156;ABBA01008157;ABBA01008158;AC096542;AC099065;AF261089;AI089162;AK023851;AK056838;AK097247;AK124751;AK297800;AK303952;AK315179;AK316211;AMYH02002765;AMYH02002766;AY835586;BC007686;BC011828;BC021303;CH471100;DA448245;J04700;M23254;NM_001146068;NM_001748 AAA35645;AAA52760;AAF99682;AAH07686;AAH11828;AAH21303;AAV80421;ABM84238;ABM84546;ABW03605;BAC85936;BAD93092;BAG37620;BAG53441;BAG60139;BAG64879;BAH14582;EAW93249;EAW93250;EAW93251;NP_001139540;NP_001739;P17655 Hs.350899 1652057;2115825;2133079;2142765;2164828;5022578 AL009595;D1S1423;D1S2550;D1S3584;SHGC-76403;UniSTS:56629 CANP 2;CANP2;CANPL2;CANPml;FLJ39928;mCANP M-calpain;OTTHUMP00000035497;calcium-activated neutral proteinase 2;calpain 2;calpain 2, large [catalytic] subunit;calpain 2, large subunit;calpain M-type;calpain large polypeptide L2;calpain, large polypeptide L2;calpain-2 catalytic subunit;calpain-2 large subunit;millimolar-calpain 2289325 BW86_H APPROVED protein-coding ENSG00000162909 HGNC:1479 00254 114230 REVIEWED 734276 CAPN6 calpain 6 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009] X X X q23 110967943 110993390 - 110488327 110513774 - 111245099 111270546 - 635266;1580863;6480464 9503024 10340998;12477932;15489334;15772651;16344560;17210638;18187620;18657900;19913121;20414141;20628086;21681744;8163008;8401585;9339374 827 Q9Y6Q1 A98730;AA368247;ABBA01043322;ABBA01043323;ABBA01043324;AF029232;AJ000388;AK300340;AK312701;AL031117;AMYH02040235;AMYH02040236;AY800242;BC000730;CH471120;DA863483;L32067;NG_015962;NM_014289 AAB86605;AAH00730;AAV41896;ABM82777;ABM85967;BAG35579;BAG62085;CAA04051;CAB70568;EAX02650;EAX02651;NP_055104;Q9Y6Q1 Hs.496593 1645334;1691670;1702454;2187278;5119184 AL023597;AL032604;DXS1252;DXS7540;SGC32977 CANPX;CAPNX;CalpM;DJ914P14.1 OTTHUMP00000023858;calpain-6;calpain-like protease X-linked;calpamodulin APPROVED protein-coding ENSG00000077274 HGNC:1483 02145 300146 REVIEWED 5128765 CAPNS1P1 calpain, small subunit 1 pseudogene 1 1 1 1 p22.2 88105341 88105980 + 89859580 89860219 + 89394021 89394660 + 391053 ABBA01045587;AL691464;AMYH02001434;NG_022791 pseudo HGNC:39562 INFERRED 1312532 CAPN7 calpain 7 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008] 3 3 3 p24 15185995 15232682 + 15247733 15294423 + 15206226 15252916 + 1580863;6480464 10051333;11342116;12477932;14702039;17986458;19056867;20849418;21616915;21890473;21906983;21963094;22505724;23497113;23855590;8163008;8889548 23473 F8WCZ1;F8WDQ3;H7C0F1;H7C1B7;Q7Z479;Q9Y6W3 AB028639;ABBA01025142;ABBA01025143;ABBA01025144;AC087590;AK093742;AK314253;AMYH02006329;AMYH02006330;AMYH02006331;BC056202;BI464220;BM974327;BX502535;CH471055;NM_014296;XM_005265008;XM_006713080;XR_245107;XR_245108 AAH56202;ADZ16049;BAA78730;BAG36919;EAW64223;EAW64224;NP_055111;Q9Y6W3;XP_005265065;XP_006713143 Hs.595234 1683255;1753605;2121447;2124861;2158282 G16595;RH66709;RH68909;SHGC-107505;SHGC-64041 CALPAIN7;FLJ36423;PALBH OTTHUMP00000160302;calpain like protease;calpain-7;homolog of Aspergillus Nidulans PALB;palB homolog APPROVED protein-coding ENSG00000131375 HGNC:1484 05908 606400 REVIEWED 735486 CAPNS1 calpain, small subunit 1 Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. Calpain families have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. Calpain I and II are heterodimeric with distinct large subunits associated with common small subunits, all of which are encoded by different genes. This gene encodes a small subunit common to both calpain I and II and is associated with myotonic dystrophy. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.12 33345090 33355427 + 36630918 36641255 + 36140016 36150353 + 1580863;6480464;8554872 10639123;10661889;10666632;10737800;11516996;11517928;11673052;12121983;12358155;12477932;12591934;12684003;14559243;15057824;15489334;15611136;16169070;1656060;17643375;18029348;18234454;18544539;18761085;19199708;19738201;19913121;19942621;20107320;20419804;20628086;21151833;21268016;21890473;21906983;21963094;21988832;2209092;22118674;22623428;22863883;22939629;23349941;23443559;23798571;24297866;24703594;24816145;3016651;3024120;8561910;8619474;8702541;9110174;9326644 826 K7EIV0;K7EKD8;K7ELJ7;K7EM73;K7EMQ1;K7ES78;P04632;S4R3F9;U3KPR7;U3KQE2 ABBA01018779;AC002984;AD001527;AK289606;AMYH02036000;AY007141;AY789642;BC000592;BC007779;BC011903;BC017308;BC018931;BC021933;BC023643;BC064998;BF822052;BQ898664;BT009775;M31501;M31511;NM_001003962;NM_001749;X04106;X64180;X64190;XM_005259295;XM_005259296;XM_005259297 AAA35646;AAB51183;AAB81546;AAH00592;AAH07779;AAH11903;AAH17308;AAH18931;AAH21933;AAH23643;AAH64998;AAP88777;AAV40829;BAF82295;CAA27726;NP_001003962;NP_001740;P04632;XP_005259352;XP_005259353;XP_005259354 Hs.515371 1665842;1734642;2155827;2168428;2177925;5022716 CAPNS1;D19S1102;D19S640E;G13289;RH69431;STS-X04106 30K;CALPAIN4;CANP;CANPS;CAPN4;CDPS;CSS1 CANP small subunit;calcium-activated neutral proteinase small subunit;calcium-dependent protease small subunit 1;calcium-dependent protease, small subunit;calpain 4, small subunit (30K);calpain regulatory subunit;calpain small subunit 1;calpain, small polypeptide APPROVED protein-coding ENSG00000126247 HGNC:1481 00240 114170 REVIEWED 731611 CAPN9 calpain 9 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42.11-q42.3 204149151 204203730 + 230883089 230937749 + 230747343 230802003 + 724622;734688;1580863;6480464 10835488;9524069 11516996;12477932;17157313;18976975;19074885;20379614;20453000;23049088;8561910;9917325 10753 E7ESS6;O14815;Q6PIV8 AB038463;ABBA01033028;ABBA01033029;AF022799;AK298024;AK309039;AK313629;AL512328;AMYH02002882;AY874864;BC027993;CH471098;FO393421;NM_006615;NM_016452;XM_005273010;XR_426915 AAB80762;AAH27993;AAW49735;BAA92137;BAG36389;BAG60326;EAW69920;EAW69921;EAW69922;NP_006606;NP_057536;O14815;XP_005273067 Hs.498021 1336310;1764693;1765383;1852539;2126263;2145576 AL009462;D1S1656;D1S3730;G15722;SHGC-148285;SHGC-148871 GC36;nCL-4 OTTHUMP00000035899;OTTHUMP00000035900;calpain 9 (ncl-4);calpain-9;digestive tract-specific calpain;new calpain 4;novel calpain large subunit-4 2289325 BW86_H APPROVED protein-coding ENSG00000135773 HGNC:1486 05909 606401 REVIEWED 731758 CAPN5 calpain 5 Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008] 11 11 11 q14 74085463 74144685 + 76777992 76837201 + 77066945 77126155 + 635266;1580863;6480464;7240710;8554872;8699517 9503024 11168679;11517927;12477932;14702039;15464980;15489334;16396936;17227582;18657264;18787380;18829447;19056867;19734545;19913121;19948975;20200332;20628086;20706999;21139048;21906983;23000965;23055945;8889548;9339374;9367857 726 E7EV01;E9PS73;K7EP62;O15484 AB209087;ABBA01017439;ABBA01017440;ABBA01017441;AK092880;AK094150;AK128124;AK129588;AK310978;AK313132;AMYH02025130;AP000752;BC018123;BM679546;CH471076;KF511158;NG_033002;NM_004055;U94346;Y10552 AAC51869;AAH18123;ABM82528;ABW03388;BAC85188;BAC87282;BAD92324;BAG52829;CAA71584;EAW75014;EAW75015;EAW75016;NP_004046;O15484 Hs.248153 1652209;1660070;1661768;1678357;1737065;1737663;1778290;2107453;2136136;2149504;2181240;2220364;5022200 A003B31;A006A01;D11S2312E;D11S2819;D11S3269;L18426;OMP;OMP__7185;RH47480;RH70524;RH78791;UniSTS:480807;WI-18290 ADNIV;FLJ46245;HTRA3;VRNI;nCL-3 OTTHUMP00000228836;OTTHUMP00000228838;OTTHUMP00000228839;calpain htra-3;calpain-5;new calpain 3;vitreoretinopathy, neovascular inflammatory APPROVED protein-coding ENSG00000149260 HGNC:1482 03963 193235;602537 REVIEWED 736537 CAPN8 calpain 8 ENCODES a protein that exhibits calcium ion binding (inferred); calcium-dependent cysteine-type endopeptidase activity (inferred); INVOLVED IN digestion (inferred); proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); intracellular (inferred); INTERACTS WITH (S)-colchicine (ortholog); 1,2,4-trimethylbenzene (ortholog); 17beta-estradiol (ortholog) 1 1 1 q41 196935481 197009067 - 223714972 223853436 - 223609153 223665734 - 632482;6480464;8554872 7690035 11329013;11516996;11523006;12477932;16341674;16344560;17646163;8889549 388743 A3QK36;A3QK37;A6NHC0;B1B153;B1B154;H0YDN4;H0YEJ4;H0YEQ4 ABBA01006375;ABBA01008159;ABBA01008160;AC099065;AMYH02002758;AMYH02002759;AMYH02002760;AMYH02002761;AMYH02002762;AMYH02002763;AMYH02002764;AMYH02002765;BC157893;BG187068;BM739137;BM843240;CR628412;CR848842;DA874912;FO681503;NM_001143962 A6NHC0;AAI57894;NP_001137434 Hs.291487 1340391;1755447;1765245;1781676;2157613;2159628;7185256 D1S213;D1S2568;SHGC-142314;SHGC-148734;SHGC-155000;SHGC-76401 nCL-2 calpain-8;new calpain 2;stomach-specific M-type calpain protein-coding ENSG00000203697 HGNC:1485 VALIDATED 1345503 CAPNS2 calpain, small subunit 2 ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH disodium selenite; hydrogen peroxide; hydroquinone O-beta-D-glucopyranoside 16 16 16 q12.2 40114807 40115815 + 55600584 55601592 + 55566672 55567680 + 1580863;6480464 11853546;12477932;15489334;15590481;17207965;19913121;20628086;21832049;23390828;23408906 84290 Q96L46 ABBA01066525;AC007336;AMYH02032076;AY052551;BC005397;BC006000;CH471092;NM_032330 AAH05397;AAH06000;AAL02241;ACE87747;ADQ32630;EAW82830;NP_115706;Q96L46 Hs.660027 CSS2;MGC12536;MGC14804 OTTHUMP00000236926;calcium-dependent protease small subunit 2;calpain small subunit 2 protein-coding ENSG00000256812 HGNC:16371 16682 VALIDATED 731876 CAPN3 calpain 3, (p94) Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008] 15 15 15 q15.1 19408011 19472224 + 42646545 42704515 + 42359500 42412317 + 69795;734687;1600769;1600777;1580863;6480464;7240710;8554872;8699517 10806331;10814721;2555341;9150160 10068445;10229226;10330340;10987085;11485017;12075569;12461690;12477932;12482600;12882647;14506720;14583192;14675785;14702039;14981715;15073171;15221789;15324660;15351423;15489334;15689361;15725583;15827562;16107503;16141003;16189514;16290124;16533054;16627476;16934440;16971480;17157502;17318636;17585039;17596655;17702496;17897354;17979987;18073330;18258189;18299526;18310072;18334579;18337726;18563459;18676612;18854869;18974005;19048948;19074885;19386580;19460752;19556129;20139084;20301490;20301582;20477750;20517216;20533264;20634290;20635405;20686565;20860623;21172462;21204801;21386772;21836041;21984748;22006685;2209092;22158424;22443334;22486197;22505582;22926650;22975586;23666804;23707407;23821418;23908349;24097068;24126726;24715573;7720071;8537379;8624690;8954122;9185618;9246005;9266733;9396712;9642272;9655129;9762961;9763216;9771675;9873017 825 C6EVS3;C6EVS4;F8W8F5;H3BMH1;H3BNN7;H3BS30;H3BS77;H3BSA2;H3BUR3;H3BUZ3;H3BV08;P20807 ABBA01038377;ABBA01038378;AC012651;AF127764;AF127765;AF147441;AF209502;AK027249;AK293792;AK308103;AMYH02030282;AMYH02030283;AMYH02030284;AY902237;BC003169;BC003521;BC004883;BC007810;BC067126;BC100782;BC100783;BC100784;BC107791;BC128605;BC146649;BC146672;BT007322;EU791850;EU791851;FB775530;FB775532;FB775534;FB775536;FB775538;FB775540;FB775542;NG_008660;NM_000070;NM_024344;NM_173087;NM_173088;NM_173089;NM_173090;X85030 AAD28253;AAD28254;AAH03169;AAH03521;AAH04883;AAH07810;AAH67126;AAI00783;AAI00784;AAI00785;AAI07792;AAI28606;AAI46650;AAI46673;AAL40183;AAP35986;AAW69391;ACE86752;ACE87440;ACI63187;ACI63188;BAG57205;CAA59403;CAV30722;CAV30723;CAV30724;CAV30725;CAV30726;CAV30727;CAV30728;NP_000061;NP_077320;NP_775110;NP_775111;NP_775112;NP_775113;P20807 Hs.143261 1644727;1652869;1669128;1728933;1736718;1736740;1736772;1739419;1745141;1745143;1745145;1745147;1745149;1745151;1745153;1745155;1745179;1745183;1745185;1745187;1745189;1745191;1745195;1745197;1745201;1745203;1745205;1745209;1745211;1745217;1745221;1745225;1745227;1745229;1745235;1745237;1768707;1790231;2110299;2111252;2166229;2191531;5491326 CAPN3__4505;D15S1208;D15S498;D15S741;D15S756;D15S774;D15S882E;EST160846;GDB:595491;GDB:595502;GDB:595506;GDB:595511;GDB:595521;GDB:595526;GDB:595530;GDB:595532;GDB:596044;GDB:596046;GDB:596049;GDB:596085;GDB:596146;GDB:596192;GDB:596194;GDB:596196;GDB:596199;GDB:596200;GDB:596203;GDB:596205;GDB:596208;GDB:596213;GDB:596223;GDB:596226;GDB:596229;GDB:596230;GDB:596235;GDB:596238;MARC_26098-26099:1032551724:1;PMC104364P1;RH17562;SHGC-35143;SKM-CALPOV;UniSTS:141225;WI-17962 CANP 3;CANP3;CANPL3;LGMD2;LGMD2A;MGC10767;MGC11121;MGC14344;MGC4403;nCL-1;p94 OTTHUMP00000161194;OTTHUMP00000161195;OTTHUMP00000161196;calcium-activated neutral proteinase 3;calpain 3;calpain L3;calpain p94, large [catalytic] subunit;calpain, large polypeptide L3;calpain-3;muscle-specific calcium-activated neutral protease 3 large subunit;new calpain 1 APPROVED protein-coding ENSG00000092529 HGNC:1480 00255 114240;253600 REVIEWED 1313896 CAPRIN1 cell cycle associated protein 1 ENCODES a protein that exhibits poly(A) RNA binding; RNA binding (ortholog); INVOLVED IN negative regulation of translation (ortholog); positive regulation of dendrite morphogenesis (ortholog); positive regulation of dendritic spine morphogenesis (ortholog); FOUND IN cytoplasm; membrane; cytoplasmic mRNA processing body (ortholog); INTERACTS WITH 17beta-estradiol; 2-methylcholine; all-trans-retinoic acid 11 11 11 p13 34220789 34271699 + 34073230 34124157 + 34051683 34102610 + 1580863;6480464 11060040;12183049;12477932;14764709;15471883;16055720;16177067;17210633;17353931;18029348;19250063;19542561;19946888;20020773;20360068;20516077;20696395;21139048;21145461;21182205;21832049;21890473;21906983;21963094;22053931;22174317;22268729;22505724;22586326;22737234;22939629;23000965;23097442;23125841;23463506;23528710;24332808;24457600;24583282;24778252;24816145;24992036;7657653;8786113 4076 E9PLA9;E9PP31;G3V153;Q14444 ABBA01060876;ABBA01060877;AC090469;AF086078;AK127972;AK299720;AMYH02024577;BC001731;BC015700;BC026302;BK001101;BK001104;BR000867;CH471064;JA385098;JA385100;JC263740;JC263742;JC281396;JC281398;JC288314;JC288316;JC297066;JC297068;JC339221;JC339223;JC365420;JC365422;JC428111;JC428113;JC450567;JC450569;NM_005898;NM_203364;X89572;Z48042 AAH01731;ABW03502;ABW03810;ABW03918;BAG54610;BAG61620;CAA61751;CAA88096;CCB07370;CCB07371;CDM55461;CDM55462;CDM55499;CDM55500;CDM55530;CDM55531;CDM55547;CDM55548;CDM63427;CDM63428;CDM63613;CDM63614;CDM63664;CDM63665;CDM63727;CDM63728;DAA01118;DAA01121;EAW68176;EAW68177;EAW68178;EAW68179;EAW68180;FAA00692;NP_005889;NP_976240;Q14444 Hs.471818 1676862;1677338;1679479;1688845;1689410;1693604;1719879;2137106;2137521;2141626;2165393;5018347;5124633 RH123632;RH12452;RH142945;RH27392;RH64874;RH79878;RH80676;RH93956;RH98715;SHGC-58520;STS-L37771;STS-T10644;WI-19568 GPI-p137;GPIAP1;GPIP137;GRIP137;M11S1;RNG105;p137GPI GPI-anchored membrane protein 1;GPI-anchored protein p137;OTTHUMP00000232328;OTTHUMP00000232330;OTTHUMP00000232331;OTTHUMP00000232929;OTTHUMP00000232930;RNA granule protein 105;activation/proliferation-associated protein 1;caprin 1;caprin-1;cell cycle-associated protein 1;cytoplasmic activation- and proliferation-associated protein 1;cytoplasmic activation/proliferation-associated protein-1;membrane component chromosome 11 surface marker 1;membrane component, chromosome 11, surface marker 1 protein-coding ENSG00000135387 HGNC:6743 03108 601178 VALIDATED 1352276 CAPZA1P capping protein (actin filament) muscle Z-line, alpha 1 pseudogene X X X q21.3 87588102 87590440 - 87349921 87352259 - 88094920 88097258 - 11499681 53338 ABBA01051962;AF284769;AL024493;AMYH02039925;NG_001277 pseudo HGNC:1489 INFERRED 1604605 CAPRIN2 caprin family member 2 The protein encoded by this gene may be involved in the transitioning of erythroblasts from a highly proliferative state to a terminal phase of differentiation. High level expression of the encoded protein can lead to apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 12 12 12 p11 36005312 36050258 - 30862486 30907448 - 30709552 30754860 - 6480464 11347906;12477932;14593112;14702039;14764709;16094384;18762581;20516077;21145461 65981 F5GXI7;F5GYA1;F5GZX3;F5H142;F5H5J8;F5H7T6;H0YGG3;H0YID4;H3BM22;Q6IMN6 AB058776;ABBA01068089;AC010198;AF326778;AF525416;AK021453;AK024247;AK026222;AL834212;AMYH02026269;AY074490;AY074491;BC007520;BC025420;BC066295;BC111007;BC117672;BC117673;BK001102;BK001103;BQ010043;BR000870;BX537569;BX538080;CH471094;KF455635;NG_029557;NM_001002259;NM_001206856;NM_023925;NM_032156;NR_038177;XM_006719137;XM_006719138;XM_006719139;XM_006719140;XM_006719141;XM_006719142;XM_006719143;XM_006719144;XM_006719145;XM_006719146;XM_006719147;XM_006719148 AAH66295;AAI11008;AAI17673;AAI17674;AAK83153;AAL71549;AAL71550;AAP80792;BAB13830;BAB15398;BAB47502;CAD97786;CAD98004;DAA01119;DAA01120;EAW96608;EAW96609;EAW96610;EAW96611;EAW96612;EAW96613;EAW96614;EAW96615;EAW96616;FAA00695;NP_001002259;NP_001193785;NP_076414;NP_115532;Q6IMN6;XP_006719200;XP_006719201;XP_006719202;XP_006719203;XP_006719204;XP_006719205;XP_006719206;XP_006719207;XP_006719208;XP_006719209;XP_006719210;XP_006719211 Hs.234355 1664569;1726007;1740149;1852211;2171514;2171516;5022651;5037552 A006H42;A006S17;D11S2921;D12S1577;D12S1821;D8S2279;G20824;G62362 C1QDC1;EEG-1;EEG1;FLJ11391;FLJ22569;KIAA1873;MGC102894;MGC134847;MGC134848;RNG140 C1q domain containing 1;C1q domain-containing protein 1;OTTHUMP00000240356;OTTHUMP00000240689;OTTHUMP00000240691;OTTHUMP00000240692;OTTHUMP00000240693;RNA granule protein 140;caprin-2;cytoplasmic activation/proliferation-associated protein 2;gastric cancer multidrug resistance-associated protein APPROVED protein-coding ENSG00000110888 HGNC:21259 12711 610375 REVIEWED 1601932 CAPSL calcyphosine-like ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH acetylsalicylic acid; phenobarbital; valproic acid 5 5 5 p13.2 35790080 35824563 - 35904397 35938881 - 35904295 35938779 - 6480464;8554872 12477932;15489334;17554260;18563381;21832049;8889548;8889549 133690 D6RF97;D6RHD7;Q8WWF8 ABBA01024158;AC112204;AMYH02011162;BC017586;BM975803;CD687387;CH471119;NM_001042625;NM_144647;W25222;XM_006714444;XM_006714445 AAH17586;ADZ16101;EAW55926;NP_001036090;NP_653248;Q8WWF8;XP_006714507;XP_006714508 Hs.55150 1719525 RH123495 MGC26610 OTTHUMP00000161737;OTTHUMP00000221227;OTTHUMP00000222243;calcyphosin-like protein protein-coding ENSG00000152611 HGNC:28375 14506 VALIDATED 1348480 CAPS calcyphosine This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 5853155 5855184 + 5913659 5916222 + 5913648 5916211 + 1580863;6480464 12477932;15057824;15489334;18029348;18729184;18775726;19190083;19275752;20468064;2265558;2540953;8125298;8889548;9125191;9224948 828 K7EL21;K7ES72;Q13938;Q96ET4 ABBA01055983;AC004602;AC104532;AK090469;AK226026;AMYH02035342;AW510425;BC011961;BC019065;BC080599;BC101513;BC104766;BG768134;BU689238;CH471139;CS300742;CS300743;NM_004058;NM_080590;X97966;XM_005259656;XM_005259657 AAC14484;AAH11961;AAH80599;AAI01514;AAI04767;BAC03450;CAA66609;CAK32406;CAK32407;EAW69125;EAW69126;EAW69127;EAW69128;NP_004049;NP_542157;Q13938;XP_005259713;XP_005259714 Hs.584744 2129061;5014019;5014039;5015619;5015961;5016478;5016781;5017227;5020946;5022200;5022322;5022578;5037552;5493005 D11S2560;D11S3114;D15S1477;D1S1423;D22S1584;D5S2354;D8S2279;G38154;GDB:434012;L17971;L18426;RH78172;SHGC-67307;UniSTS:483678 CAPS1;MGC126562 calcyphosin;calcyphosine 1;thyroid protein p24 APPROVED protein-coding ENSG00000105519 HGNC:1487 00250 114212 VALIDATED 1312685 CARD10 caspase recruitment domain family, member 10 The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008] 22 22 22 q13.1 21687204 21715894 - 37886400 37915543 - 37490362 37519203 - 1580863;6480464 10591208;11259443;11356195;11387339;12477932;14702039;15125833;15184390;15489334;17101977;17724468;18349075;18676680;18757306;19112107;19913121;20237496;20628086;20695076;20800603;21078624;21139048;21307088;21406399;21890473;21906983;21963094;22615840;22884800;22992343;23000965;23608917;23708960;23771851;23893382;24018495;24443255;24633921 29775 B0QYC3;B0QYC4;Q9BWT7 ABBA01055469;ABBA01055470;ABBA01055471;AF086324;AK057334;AK074906;AK296176;AL022315;AMYH02038334;AMYH02038335;AY028896;AY032928;BC032058;BC113659;BC117403;CH471095;CQ783738;FP325335;NM_014550 AAI13660;AAI17404;AAK26165;AAK54454;BAC11282;BAH12273;CAF86837;EAW60163;NP_055365;Q9BWT7 Hs.57973 1677728;1731327;2217104 CARD10_3578;D22S346;RH99263 BIMP1;CARMA3;MGC142219 Bcl10 binding protein and activator of NFKB;CARD-containing MAGUK 3 protein;CARD-containing MAGUK protein 3;OTTHUMP00000197888;OTTHUMP00000197889;OTTHUMP00000197890;carma 3;caspase recruitment domain-containing protein 10 APPROVED protein-coding ENSG00000100065 HGNC:16422 06233 607209 REVIEWED 1353508 CAPZA3 capping protein (actin filament) muscle Z-line, alpha 3 This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008] 12 12 12 p12.3 24036563 24037640 + 18891045 18892122 + 18738111 18739188 + 1580863;6480464 10524250;12029070;12477932;14702039;15489334;19913121;20628086;21139048;23903073;7957958 93661 Q96KX2 AB053259;ABBA01067925;AC087242;AK058174;AMYH02026127;BC016745;BG772483;CH471094;HC006864;NM_033328 AAH16745;ADZ15357;BAB61901;BAB71703;CBH19237;EAW96391;NP_201585;Q96KX2 Hs.131288 CAPPA3;Gsg3 CP-alpha-3;CapZ alpha-3;F-actin capping protein alpha-3 subunit;F-actin-capping protein subunit alpha-3;OTTHUMP00000239909;germ cell-specific protein 3 APPROVED protein-coding ENSG00000177938 HGNC:24205 12282 608722 REVIEWED 1350189 CARD14 caspase recruitment domain family, member 14 This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] 17 17 17 q25 74781528 74812042 + 78143791 78183130 + 80169992 80209331 + 1580863;6480464;7240710;8554872;8699517 11259443;11278692;11356195;12477932;14702039;15489334;16189514;16344560;18029348;19851296;20198315;20237496;21302310;22521418;22521419;22703878;23328365;23905699;24163370;24476623 79092 I3L1Z7;I3L3F1;I3L414;I3L4Q8;Q9BXL6 ABBA01015407;ABBA01015408;AC087741;AF322642;AK002138;AK054723;AK091123;AK095416;AK296762;AK309299;AMYH02034100;AMYH02034101;AMYH02034102;AX746790;AY032927;BC001326;BC018142;BU617627;CH471099;DA461380;DB314596;EU652409;NG_032778;NM_001257970;NM_024110;NM_052819;NR_047566 AAG53403;AAH01326;AAH18142;AAK54453;ACF49506;BAG59342;EAW89586;EAW89587;EAW89588;EAW89589;NP_001244899;NP_077015;NP_438170;Q9BXL6 Hs.675480;Hs.696253;Hs.735899 1707610;1710346;1773107;2157958;2219044;5015861;5015961;5016478;5024761;5037552;7185938 A005O39;CARD14_3621;D10S16;D15S1477;D8S2279;GDB:434012;RH36905;RH78492;SHGC-82425;SHGC-84620 BIMP2;CARMA2;FLJ38097;PRP;PSORS2;PSS1 CARD-containing MAGUK 2 protein;CARD-containing MAGUK protein 2;bcl10-interacting maguk protein 2;card-maguk protein 2;carma 2;caspase recruitment domain-containing protein 14 APPROVED protein-coding ENSG00000141527 HGNC:16446 06235 173200;602723;607211 REVIEWED 1320373 CAPS2 calcyphosine 2 Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008] 12 12 12 q14.1 75337122 75391273 - 75669759 75784681 - 75275979 75390922 - 6480464 11329013;1184642;11846421;12477932;14530279;14702039;15489334;23333304;23870195 84698 A2RRN2;B9A061;C9J524;F8VWP7;F8VZC3;F8W927;H7BXT1;Q9BXY5 ABBA01026470;AC091534;AC092552;AC121761;AF251056;AF351611;AK091839;AK092274;AMYH02026773;AMYH02026774;BC033860;BC056672;BC131724;BG186487;CH471054;NM_001286547;NM_001286548;NM_001286549;NM_032606;XM_005269190;XM_005269191;XM_005269192;XM_005269194;XM_006719648;XM_006719649;XM_006719650;XM_006719651 AAH56672;AAI31725;AAK34946;AAN76511;BAC03759;BAC03845;EAW97296;EAW97297;EAW97298;EAW97299;EAW97300;NP_001273476;NP_001273477;NP_001273478;NP_115995;Q9BXY5;XP_005269247;XP_005269248;XP_005269249;XP_005269251;XP_006719711;XP_006719712;XP_006719713;XP_006719714 Hs.733835 2110303 CAPS2__4508 FLJ34520;UG0636c06 OTTHUMP00000202411;OTTHUMP00000202412;OTTHUMP00000229610;calcyphosin-2;calcyphosine-2;calcyphosphine 2 APPROVED protein-coding ENSG00000180881 HGNC:16471 09659 607724 VALIDATED 1605643 CARD18 caspase recruitment domain family, member 18 ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); regulation of apoptotic process (inferred); PARTICIPATES IN NOD-like receptor signaling pathway; INTERACTS WITH cyclosporin A; 1,3-dinitrobenzene (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q22.3 102172632 102174645 - 105008448 105010461 - 105137721 105139734 - 6480464;6907045 11051551;11821383;12477932;12975309;15383541;21048031;23948415 59082 G5EA35;P57730 ABBA01039912;AF208005;AI189838;AMYH02025507;AP003181;AW295205;AY358231;BC131610;CH471065;NM_021571 AAG23528;AAI31611;AAQ88598;EAW67065;NP_067546;P57730 Hs.56279 UNQ5804 ICEBERG;ICEBERG caspase-1 inhibitor;OTTHUMP00000232068;caspase recruitment domain-containing protein 18;caspase-1 inhibitor Iceberg;pseudo-ICE protein-coding ENSG00000255501 HGNC:28861 16099 605354 VALIDATED 1314786 CAPZA1 capping protein (actin filament) muscle Z-line, alpha 1 CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 111392601 111444712 + 113162075 113214241 + 112619453 112671619 + 1580863;6480464;8554872 12470955;12477932;12480931;12488317;12690097;15489334;1602151;16054028;16130169;16196087;16344560;16678097;16710414;16987810;17353931;17620599;18321953;18457437;19056867;19322201;19615732;19725029;19738201;19922875;20697350;20876399;20884878;21139048;21145461;21566537;21572416;21800051;21822214;21890473;21906983;21963094;22070227;22268729;22505724;22623428;22706086;22863883;22939629;22990118;23000965;23084401;23184937;23398456;23537643;23545944;23874603;24332808;24550385;24654937;24816145;25027693;25036637;7665558;8125298;8639502;9119363;9331217;9354614;9803314;9828130;9852149 829 P52907 ABBA01068413;ABBA01068414;ABBA01068415;ABBA01068416;AJ227918;AK223226;AK289654;AL603832;AL929470;AMYH02001741;AMYH02001742;AMYH02001743;AMYH02001744;AMYH02001745;AMYH02001746;BC000144;BC034391;BT019364;BX648738;CH471122;CR407657;CR541819;DB233456;NM_006135;U56637 AAC00533;AAH00144;AAV38171;ABM81680;ABM84845;BAD96946;BAF82343;CAG28585;CAG46618;EAW56525;EAW56526;EAW56527;NP_006126;P52907 Hs.744974 1335693;2147819;7186593 D1S487;SHGC-75335 CAPPA1;CAPZ;CAZ1;Cap Z F-actin-capping protein subunit alpha-1;OTTHUMP00000013512;capZ alpha-1 APPROVED protein-coding ENSG00000116489 HGNC:1488 03347 601580 REVIEWED 1347618 CAPZB capping protein (actin filament) muscle Z-line, beta This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as well as in stabilizing actin filament lengths in muscle and nonmuscle cells. A pseudogene of this gene is located on the long arm of chromosome 2. Multiple alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, Aug 2013] 1 1 1 p36.1 17992290 18138980 - 19665267 19812066 - 19338773 19485641 - 1580863;6480464 12477932;12488317;12665801;14702039;15146197;15489334;16054028;16130169;16169070;16300736;16678097;16710414;17353931;17643375;18457437;19056867;19156129;19615732;19738201;19922875;20379614;20697350;20876399;20884878;21139048;21182205;21319273;21565293;21822214;21844192;21890473;21900206;21906983;22070227;22118674;22234250;22266860;22268729;22482804;22494929;22505724;22623428;22706086;22863883;22939629;22990118;23000965;23084401;23398456;23408906;24163370;24457600;24583282;24816145;7665558;9331217;9354614 832 B1AK85;B1AK87;B1AK88;B4DWA6;P47756;Q7L4N0 ABBA01059758;ABBA01059759;AI799520;AK022336;AK125085;AK126650;AK301442;AK313113;AL035413;AL359199;AL445163;AMYH02000421;BC008095;BC012305;BC024601;BC069031;BC107752;BC109241;BC109242;BE870234;BQ009850;BQ773230;BT019470;BT019471;BX647941;CB267021;CH471134;CN273493;EB387955;HY021163;KF495883;NG_029551;NM_001206540;NM_001206541;NM_001282162;NM_004930;U03271;XM_006710938 AAA87395;AAH08095;AAH24601;AAI07753;AAI09242;AAI09243;AAV38277;AAV38278;BAG35935;BAG54137;BAG62968;EAW94888;EAW94889;EAW94890;EAW94891;NP_001193469;NP_001193470;NP_001269091;NP_004921;P47756;XP_006711001 Hs.432760 1659692;1692476;1699622;1758113;1758595;1760063;1781692;1846602;2117682;2140050;5020948;5022450 AL009488;AL033889;D10S275;D1S1674;G35510;RH103414;SHGC-107611;SHGC-147427;SHGC-148894;SHGC-155098;SHGC-175;SHGC-74331 CAPB;CAPPB;CAPZ;Cap Z;DKFZp686K0524;FLJ12274;FLJ44693;MGC104401;MGC129749;MGC129750 F-actin capping protein beta subunit;F-actin-capping protein subunit beta;OTTHUMP00000002652;OTTHUMP00000002653;OTTHUMP00000002654;OTTHUMP00000002656;OTTHUMP00000002657;capZ beta APPROVED protein-coding ENSG00000077549 HGNC:1491 11872 601572 REVIEWED 1319685 CARD11 caspase recruitment domain family, member 11 The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008] 7 7 7 p22 2914379 3052190 - 2945709 3083579 - 2906075 3043945 - 1580863;6480464;6907045;8699517;8554872;7240710 11259443;11278692;11356195;12154356;12154360;12356734;12477932;12690205;14673152;14702039;14739370;15122200;15125833;15184390;15541657;15802604;16301747;16356855;16356856;16508008;16520020;16809782;16825666;17047224;17287217;17293856;17363905;17428801;17468049;18231929;18323416;18625728;18806265;19104039;19444310;19706536;19815501;20008554;20164171;20237496;20544211;20799731;21157432;21172665;21176849;21266526;21513986;21569705;21900206;21905497;22075698;22303480;22371397;22397314;22411628;22528498;22808296;23027925;23042114;23128233;23129749;23149938;23218918;23264041;23322406;23374270;23545653;23632891;23690623;24074955;24465689;24548923;25001930;8889549;9847074 84433 E2QRC0;H7BY05;Q8TES3;Q9BXL7 AA194010;AA594170;ABBA01039390;ABBA01039391;ABBA01039392;ABBA01039393;ABBA01039394;AC004906;AC024028;AC092689;AF322641;AF352576;AK074049;AK097139;AMYH02015085;AMYH02015086;AMYH02015087;AW139089;BC111719;CH236953;CH471144;HY086990;NG_027759;NM_032415;XM_006715794;XM_006715795;XM_006715796 AAG53402;AAI11720;AAL34460;AAQ96893;BAB84875;EAL23962;EAW87276;EAW87277;EAW87278;EAW87279;NP_115791;Q9BXL7;XP_006715857;XP_006715858;XP_006715859 Hs.648101 1336846;1771574;2119980;2166791;2217106;5022651;7185207 CARD11_3630;D11S2921;D7S2484;G09444;GDB:1318525;RH65749 BIMP3;CARMA1;IMD11;MGC133069;PPBL;carma 1 BENTA;CARD-containing MAGUK protein 1;OTTHUMP00000024641;bcl10-interacting maguk protein 3;card-maguk protein 1;caspase recruitment domain-containing protein 11 APPROVED protein-coding ENSG00000198286 HGNC:16393 06234 606445;607210;615206 REVIEWED 1350794 CAPZA2 capping protein (actin filament) muscle Z-line, alpha 2 The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008] 7 7 7 q31.2-q31.3 111310094 111366812 + 116502533 116559315 + 116862509 116919259 + 1580863;6480464 12029070;12470955;12477932;12665801;12690205;12853948;15489334;1602151;16054028;17353931;17567994;17620599;18029348;18624398;19056867;19322201;20697350;20876399;21139048;21822214;21890473;21906983;21963094;22505724;22863883;23000965;23398456;24250222;24816145;7665558;8125298;9331217 830 A4D0V4;C9J7V0;C9JCZ4;C9JUG7;F8W9N7;F8WED3;P47755 ABBA01057804;ABBA01057805;AC002543;AK222989;AK223004;AK293405;AK294409;AK311406;AK314808;AK315915;AMYH02016629;AMYH02016630;AMYH02016631;AMYH02016632;AMYH02016633;AMYH02016634;BC005338;BC015963;BI553815;BT006735;BX386541;CH236947;CH471070;DQ655955;DQ655956;KF458568;KF458578;NM_006136;U03269;U03851 AAA88848;AAC00534;AAC60382;AAH05338;AAP35381;BAD96709;BAD96724;BAG37333;BAG56912;BAG57661;BAH14286;EAL24358;EAW83512;EAW83513;EAW83514;EAW83515;NP_006127;P47755 Hs.446123 1654383;1672294;1704860;1711748;1711750;1711752;1800042;1801352;1802710;1802712;1804482;1804818;1804864;1805446;1805650;1808304;1809008;1810454;1814754;1814830;1814978;1817200;1820110;1820464;1821304;1822074;1823038;1823916;1826566;1827024;1830604;1831148;1831412;1833574;1833620;1834536;1834538;1834720;1834770;1834810;1835134;1835880;1836126;1836176;1836900;1837694;1837942;1841184;1841414;1841480;1841544;1841738;1843134;1843580;1844204;1845294;1845296;1845556;1845558;1845836;1853278;1989030;1989032;1989034;1989036;1989038;1989040;1989042;1989044;1989046;1989048;1989050;1989052;1989054;1989056;1989058;1989060;1989062;1989064;1989066;1989068;1989070;1989072;1989074;1989076;1989078;1989080;1989082;1989084;1989086;1989088;1989090;1989092;1989094;1989096;1989098;1989100;1989102;1989104;1989106;1989108;1989110;1989112;1989114;1989116;1989118;1989120;1989122;1989124;1989126;1989128;1989130;1989132;1989134;1989136;1989138;1989140;1989142;1989144;1989146;1989148;1989150;1989152;1989154;1989156;1989158;1989160;1989162;1989164;1989166;1989168;1989170;1989172;1989174;1989176;1989178;1989180;1989182;1989184;1989186;1989188;1989190;1989192;1989194;1989196;1989198;1989200;1989202;1989204;1989206;1989208;1989210;1989212;1989214;1989216;1989218;1989220;1989222;1989224;1989226;1989228;1989230;1989232;1989234;1989236;1989238;1989240;1989242;1989244;1989246;1989248;1989250;1989252;1989254;1989256;1989258;1989260;1989262;1989264;1989266;1989268;1989270;1989272;1989274;1989276;1989278;1989280;1989282;1989284;1989286;1989288;1989290;1989292;1989294;1989296;1989298;1989300;1989302;1989304;1989306;1989308;1989310;1989312;1989314;1989316;1989318;1989320;1989322;1989324;1989326;1989328;1989330;1989332;1989334;1989336;1989338;1989340;1989342;1989344;1989346;1989348;1989350;1989352;1989354;1989356;1989358;1989360;1989362;1989364;1989366;1989368;1989370;1989372;1989374;1989376;1989378;1989380;1989382;1989384;1989386;1989388;1989390;1989392;1989394;1989396;1989398;1989400;1989402;1989404;1989406;1989408;1989410;1989412;1989414;1989416;2093740;2093742;2093744;2093746;2093748;2093750;2093752;2093754;2093756;2093758;2093760;2093762;2093764;2093766;2093768;2093770;2093772;2093774;2093776;2093778;2093780;2093782;2093784;2093786;2093788;2093790;2093794;2093796;2093798;2093800;2093802;2093804;2093806;2093808;2093810;2093812;2093814;2093816;2128426;2128945;2148888;5092350 D7S2776;ECD00876;ECD01548;ECD02242;ECD02243;ECD03166;ECD03342;ECD03367;ECD03671;ECD03775;ECD05133;ECD05487;ECD06220;ECD08408;ECD08446;ECD08520;ECD09650;ECD11128;ECD11307;ECD11732;ECD12123;ECD12607;ECD13052;ECD14397;ECD14627;ECD16438;ECD16710;ECD16842;ECD17930;ECD17955;ECD18416;ECD18417;ECD18508;ECD18533;ECD18553;ECD18722;ECD19101;ECD19224;ECD19249;ECD19614;ECD20014;ECD20142;ECD21787;ECD21903;ECD21936;ECD21969;ECD22068;ECD22775;ECD22999;ECD23315;ECD23864;ECD23865;ECD23996;ECD23997;ECD24137;G10671;G49382;G49383;G49384;G49385;REN65419;REN65420;REN65421;REN65422;REN65423;REN65424;REN65425;REN65426;REN65427;REN65428;REN65429;REN65430;REN65431;REN65432;REN65433;REN65434;REN65435;REN65436;REN65437;REN65438;REN65439;REN65440;REN65441;REN65442;REN65443;REN65444;REN65445;REN65446;REN65447;REN65448;REN65449;REN65450;REN65451;REN65452;REN65453;REN65454;REN65455;REN65456;REN65457;REN65458;REN65459;REN65460;REN65461;REN65462;REN65463;REN65464;REN65465;REN65466;REN65467;REN65468;REN65469;REN65470;REN65471;REN65472;REN65473;REN65474;REN65475;REN65476;REN65477;REN65478;REN65479;REN65480;REN65481;REN65482;REN65483;REN65484;REN65485;REN65486;REN65487;REN65488;REN65489;REN65490;REN65491;REN65492;REN65493;REN65494;REN65495;REN65496;REN65497;REN65498;REN65499;REN65500;REN65501;REN65502;REN65503;REN65504;REN65505;REN65506;REN65507;REN65508;REN65509;REN65510;REN65511;REN65512;REN65513;REN65514;REN65515;REN65516;REN65517;REN65518;REN65519;REN65520;REN65521;REN65522;REN65523;REN65524;REN65525;REN65526;REN65527;REN65528;REN65529;REN65530;REN65531;REN65532;REN65533;REN65534;REN65535;REN65536;REN65537;REN65538;REN65539;REN65540;REN65541;REN65542;REN65543;REN65544;REN65545;REN65546;REN65547;REN65548;REN65549;REN65550;REN65551;REN65552;REN65553;REN65554;REN65555;REN65556;REN65557;REN65558;REN65559;REN65560;REN65561;REN65562;REN65563;REN65564;REN65565;REN65566;REN65567;REN65568;REN65569;REN65570;REN65571;REN65572;REN65573;REN65574;REN65575;REN65576;REN65577;REN65578;REN65579;REN65580;REN65581;REN65582;REN65583;REN65584;REN65585;REN65586;REN65587;REN65588;REN65589;REN65590;REN65591;REN65592;REN65593;REN65594;REN65595;REN65596;REN65597;REN65598;REN65599;REN65600;REN65601;REN65602;REN65603;REN65604;REN65605;REN65606;REN65607;REN65608;REN65609;REN65610;REN65611;REN65612;RH44861;SHGC-79904;STS-U03851;WI-18209;WI-18760;stSG598217;stSG598221;stSG598222;stSG598223;stSG598224;stSG598225;stSG598226;stSG598227;stSG598228;stSG598229;stSG598230;stSG598231;stSG598232;stSG598234;stSG598235;stSG598236;stSG598237;stSG598238;stSG598239;stSG598240;stSG598243;stSG598244;stSG598245;stSG598246;stSG598248;stSG598250;stSG598252;stSG598253;stSG598254;stSG598255;stSG598256;stSG598257;stSG598258;stSG598259;stSG598260;stSG598262;stSG598263;stSG598264 CAPPA2;CAPZ F-actin capping protein alpha-2 subunit;F-actin-capping protein subunit alpha-2;OTTHUMP00000024803;capZ alpha-2 APPROVED protein-coding HGNC:1490 11871 601571 REVIEWED 1606185 CARD16 caspase recruitment domain family, member 16 ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); regulation of apoptotic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; aflatoxin B1; benzo[a]pyrene diol epoxide I 11 11 11 q22 102076226 102080224 - 104912053 104916051 - 105041326 105045324 - 6480464;8554872 11432859;11536016;11821383;12477932;14702039;15383541;16354923;16920334;18187620;19913121;20479761;20628086 114769 E9PQW1;Q5EG05 ABBA01039912;AF367017;AK125640;AK311902;AMYH02025506;AP001153;AY885669;BC033638;BC070196;BC104635;BC117478;BC117480;CH471065;NM_001017534;NM_052889 AAI17479;AAI17481;AAI41474;AAI48761;AAK71682;AAW78563;BAG34843;EAW67062;NP_001017534;NP_443121;Q5EG05 Hs.348365 COP;COP1;PSEUDO-ICE CARD only domain-containing protein 1;CARD only protein;CARD-only protein 1;OTTHUMP00000232049;OTTHUMP00000232050;caspase recruitment domain-containing protein 16;caspase recruitment domain-only protein 1;caspase-1 dominant-negative inhibitor pseudo-ICE;caspase-1 inhibitor COP;pseudo interleukin-1 beta converting enzyme;pseudo interleukin-1beta converting enzyme;pseudo-IL1B-converting enzyme protein-coding ENSG00000204397 HGNC:33701 16740 615680 VALIDATED 1605176 CARD17 caspase recruitment domain family, member 17 ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); regulation of apoptotic process (inferred); FOUND IN cytoplasm (inferred) 11 11 11 q22.3 102127380 102136342 - 104963196 104972158 - 105092469 105101431 - 15383541;23897914 440068 Q5XLA6 ABBA01039912;AMYH02025507;AP001153;AY761064;CH471065;NM_001007232 AAI46364;AAV28630;EAW67064;NP_001007233;Q5XLA6 Hs.732627 1652545 STS-N29857 INCA Inhibitory CARD;OTTHUMP00000232067;caspase recruitment domain-containing protein 17;caspase-1 inhibitor INCA;inhibitory caspase recruitment domain (CARD) protein;inhibitory caspase recruitment domain protein protein-coding ENSG00000255221 HGNC:33827 17149 609490 PROVISIONAL 1314062 CARD6 caspase recruitment domain family, member 6 This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008] 5 5 5 p13.1 40730018 40744065 + 40841410 40855456 + 40841308 40855354 + 1580863;6480464;6907045;8554872 12477932;12775719;16418290;16582588;17081983;20025480;21890473 84674 Q6XZE5;Q9BX69 AB209844;ABBA01024225;ABBA01024226;AC008810;AC026732;AF356193;AK304349;AMYH02011215;AY196783;BC093825;CH471119;KF459590;NM_032587 AAH93825;AAK32718;AAP40637;BAD93081;BAG65193;EAW56006;NP_115976;Q9BX69 Hs.200242 2106455 CARD6_3632 CINCIN1 CARD-containing inhibitor of Nod1 and Cardiak-induced NF-kB activation;OTTHUMP00000120002;caspase recruitment domain protein 6;caspase recruitment domain-containing protein 6 APPROVED protein-coding ENSG00000132357 HGNC:16394 09871 609986 REVIEWED 732385 CARD9 caspase recruitment domain family, member 9 The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 109773344 109783069 - 139258408 139268133 - 136363956 136373681 - 1299399;1580863;6480464;6907045;7240710;8554872;8699517 11053425 11259443;12477932;14702039;15164053;15489334;16189514;17187069;17936701;18439550;19809088;19864672;19915572;20228799;20237496;20463747;21102463;21297633;21425313;21436691;21743469;21881131;21985303;22013052;22423967;22936669;23017229;23128233;23251661;24018495;24068945;24131138;24231284;24334645;24722188;24777530 64170 Q9H257 ABBA01022705;AF311287;AK024001;AK127481;AK292081;AK295647;AK309043;AL592301;AMYH02021900;BC008877;BC035805;BI524042;BM148244;CH471090;NG_021197;NM_052813;NM_052814 AAG28790;AAH08877;ABM84452;ABW03582;BAB14766;BAF84770;BAG58517;EAW88219;EAW88220;EAW88221;EAW88222;EAW88223;EAW88224;NP_434700;NP_434701;Q9H257 Hs.694071 CANDF2;hCARD9 OTTHUMP00000022569;OTTHUMP00000022571;caspase recruitment domain protein 9;caspase recruitment domain-containing protein 9 APPROVED protein-coding ENSG00000187796 HGNC:16391 06236 212050;607212 REVIEWED 733909 CARHSP1 calcium regulated heat stable protein 1, 24kDa ENCODES a protein that exhibits mRNA 3'-UTR binding; INVOLVED IN regulation of mRNA stability (ortholog); FOUND IN extracellular vesicular exosome; cytoplasmic exosome (RNase complex) (ortholog); cytosol (ortholog); INTERACTS WITH (-)-demecolcine; 5-aza-2'-deoxycytidine; calcitriol 16 16 16 p13.2 9113576 9129635 - 8946799 8962869 - 8852942 8869012 - 1299427;6480464 9712905 11842224;12107410;12477932;12801884;14702039;15302935;15489334;15910284;16083285;16169070;16344560;16964243;17081983;21078874;21139048;21177848;21890473;21900206;21990353;22939629;8889548 23589 H3BNU9;H3BPY5;H3BQY0;H3BSW7;H3BTK3;H3BUY4;I3L3X8;Q9Y2V2 ABBA01019732;AC022167;AF115345;AK093698;AK311777;AMYH02031409;AMYH02031410;BC000782;BC001333;BC003366;BC108283;BM693675;BM920489;BQ004670;CA396216;CH471112;DA736976;DB101255;DB446945;HY005510;HY090855;NM_001042476;NM_001278260;NM_001278261;NM_001278262;NM_001278263;NM_001278264;NM_001278265;NM_001278266;NM_014316;XM_005255228;XM_005255229 AAD25021;AAH03366;AAI08284;ACE86631;ACE87313;BAG34720;EAW85196;EAW85197;EAW85198;EAW85199;NP_001035941;NP_001265189;NP_001265190;NP_001265191;NP_001265192;NP_001265193;NP_001265194;NP_001265195;NP_055131;Q9Y2V2;XP_005255285;XP_005255286 Hs.632184 1767254;1849818;2109107;2163501;5014051;5014740;5021872;5022578;5022651;5118444 A005C19;CARHSP1_9377;D11S2921;D11S3316;D17S610;D1S1423;D8S2278;RH70769;STS-W72753;sY3084 CRHSP-24;CSDC1;MGC111446 OTTHUMP00000160107;calcium regulated heat stable protein 1;calcium-regulated heat stable protein 1;calcium-regulated heat-stable protein (24kD);calcium-regulated heat-stable protein of 24 kDa protein-coding ENSG00000153048 HGNC:17150 08515 VALIDATED 1351599 CARD8 caspase recruitment domain family, member 8 The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] 19 19 19 q13.33 45576569 45624446 - 48711343 48759203 - 48208086 48255946 - 1580863;5490210;6480464;6907045 19302047 10231032;11408476;11551959;11821383;11956601;12067710;12477932;12775719;15030775;15489334;16712791;16796750;17030188;17484912;17595233;17878386;18092344;18212821;18263599;18311798;18841008;19074885;19252766;19319132;19322201;19443463;19664744;19843337;19940360;20182451;20379614;20385562;20453000;20800603;21248762;21308686;21621776;22087307;22128899;22227487;23053059;23088220;23506543;23507658;23547871;23563199;23611467;23695559;24098386;24250222;24385277 22900 B7Z7N9;E5RFI5;E5RFV9;E5RGC9;E5RGG3;E5RHJ3;E5RHZ3;E5RIN1;E5RJG3;H0YB90;H0YBW7;I6L9C6;Q9Y2G2 AB023172;ABBA01033008;AC008392;AC011466;AF143869;AF322184;AF331519;AF405558;AF511652;AI040349;AK297045;AK297069;AK302327;AK311077;AK311079;AMYH02036289;AX089767;AY026322;BC034564;BC041697;BC045539;BC046136;BC056891;BX641091;BX648568;CA448628;CB119078;CH471177;DC404273;EU118120;EU118121;EU118122;NG_029574;NM_001184900;NM_001184901;NM_001184902;NM_001184903;NM_001184904;NM_014959;NR_033678;NR_033679;NR_033680;XM_006723091;XM_006723092;XM_006723093;XM_006723094;XM_006723095;XM_006723096;XM_006723097;XM_006723098;XM_006723099;XM_006723100;XM_006723101;XM_006723102;XM_006723103;XM_006723104;XM_006723105;XM_006723106;XM_006723107;XM_006723108;XM_006723109;XM_006723110;XR_430193 AAG50014;AAH45539;AAH56891;AAK01126;AAK08982;AAL02427;AAM46959;ABW96891;ABW96892;ABW96893;BAA76799;BAH12482;BAH12488;BAH13675;CAC34902;CAE46043;EAW52319;EAW52320;EAW52321;EAW52322;EAW52323;EAW52324;EAW52325;NP_001171829;NP_001171830;NP_001171831;NP_001171832;NP_001171833;NP_055774;Q9Y2G2;XP_006723154;XP_006723155;XP_006723156;XP_006723157;XP_006723158;XP_006723159;XP_006723160;XP_006723161;XP_006723162;XP_006723163;XP_006723164;XP_006723165;XP_006723166;XP_006723167;XP_006723168;XP_006723169;XP_006723170;XP_006723171;XP_006723172;XP_006723173 Hs.446146;Hs.655940 1672611;1672613;1847412;2118115;2132097;5016478;5021228;5024761 D19S1010;D19S1113;GDB:312794;GDB:434012;RH16607;RH36905;SHGC-33567;WI-14251 DKFZp779L0366;FLJ18119;FLJ18121;KIAA0955;MGC57162;NDPP;NDPP1 CARD inhibitor of NF-kappaB-activating ligands;CARDINAL;DACAR;Dakar;OTTHUMP00000228260;OTTHUMP00000228262;OTTHUMP00000228264;OTTHUMP00000228265;OTTHUMP00000228267;OTTHUMP00000228271;OTTHUMP00000228272;OTTHUMP00000228273;TUCAN;apoptotic protein NDPP1;caspase recruitment domain-containing protein 8;tumor up-regulated CARD-containing antagonist of CASP9;tumor up-regulated CARD-containing antagonist of caspase nine APPROVED protein-coding ENSG00000105483 HGNC:17057 16425 609051 REVIEWED 1315654 CARF calcium responsive transcription factor ENCODES a protein that exhibits DNA binding; sequence-specific DNA binding transcription factor activity; INVOLVED IN cellular response to calcium ion; cellular response to potassium ion; positive regulation of transcription from RNA polymerase II promoter in response to calcium ion; FOUND IN nucleus (ortholog); INTERACTS WITH aflatoxin B1; cobalt dichloride; disodium selenite 2 2 2 q33.2 197529656 197603774 + 203776978 203851060 + 202912218 202986485 + 1580863;6480464 11586298;11832226;12154087;12477932;14702039;15489334;15815621;16189514;16344560;18555516;21832049;22446626;8125298 79800 B4DIA7;B4DIN8;B7ZAW7;C9JBK9;C9JCD6;C9JI92;C9JL40;C9JN29;C9JSN4;C9JT99;C9JZ91;C9JZI6;C9K063;F6SXV3;F8WC01;F8WDH0;F8WDW1;Q8N187 AB053309;AB053310;ABBA01062591;ABBA01062592;AC010900;AF454946;AK022737;AK025232;AK225218;AK295499;AK295703;AK299366;AK304014;AK308171;AK310640;AK316432;AL834188;AMYH02005584;AMYH02005585;AMYH02005586;AV751848;AY032876;BC021999;BC033777;CH471063;CK825814;DA405623;DB094349;NM_001104586;NM_001282910;NM_001282911;NM_001282912;NM_024744;XM_005246858;XM_005246859;XM_005246860;XM_005246863;XM_005246864;XM_006712757;XM_006712758;XM_006712759;XM_006712760 AAH33777;AAK66819;AAL62330;AAY24288;ABM82274;ABM85454;BAB15088;BAB69018;BAB69019;BAG58419;BAG58550;BAG61358;BAG64929;BAH14803;CAD38882;EAW70320;EAW70321;EAW70322;EAW70323;EAW70324;NP_001098056;NP_001269839;NP_001269840;NP_001269841;NP_079020;Q8N187;XP_005246915;XP_005246916;XP_005246917;XP_005246920;XP_005246921;XP_006712820;XP_006712821;XP_006712822;XP_006712823 Hs.444982 1720579;1727833;1728863;2106419;2173767;5015961;5037552 ALS2CR8__4290;D15S1477;D8S2279;G31883;G54493;G59244;G63182 ALS2CR8;DKFZp667N246;FLJ12675;FLJ21579;NYD-SP24 OTTHUMP00000205931;OTTHUMP00000205969;OTTHUMP00000205971;OTTHUMP00000205972;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein;calcium-response factor;calcium-responsive transcription factor;testis development protein NYD-SP24 APPROVED protein-coding ENSG00000138380 HGNC:14435 10464 607586 VALIDATED 2301770 CARNS1 carnosine synthase 1 CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010] 11 11 11 q13.2 64516258 64526190 + 67183149 67193078 + 67415678 67425607 + 6907045 10718198;12421765;12477932;20097752 57571 A5YM72 AB037815;ABBA01024034;AK289938;AK294035;AK295331;AMYH02024996;AP003419;AX405915;BC036557;CH471076;EF560746;NM_001166222;NM_020811;XM_005274125 A5YM72;AAH36557;ABQ59056;BAA92632;BAF82627;BAG57387;BAG58305;CAD35022;EAW74617;NP_001159694;NP_065862;XP_005274182 Hs.502982 1852157;2183221;5014053 D1S3693;RH41924;RH78502 ATPGD1;KIAA1394 ATP-grasp domain containing 1;ATP-grasp domain-containing protein 1;OTTHUMP00000236403;OTTHUMP00000236404 APPROVED protein-coding ENSG00000172508 HGNC:29268 613368 VALIDATED 1344005 CARM1P1 coactivator-associated arginine methyltransferase 1 pseudogene 1 9 9 9 p24.2 2861811 2971689 - 2943562 3053404 - 2943562 3053404 - 24058526 100130873 ABBA01065434;ABBA01065435;ABBA01065436;AL359077;AMYH02019056;AMYH02019057;AMYH02019058;AMYH02019059;NG_009935 1340158;1660898;1788410 D9S54;RH65521;fb73h01.x1 CARM1L;KIAA0020 APPROVED pseudo HGNC:23392 INFERRED 5683648 CARS-AS1 CARS antisense RNA 1 p15.4 14702039 100852407 AC108448;AC131971;AK093033 Hs.274873 APPROVED ncrna HGNC:40125 1601864 CARKD carbohydrate kinase domain containing ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent NAD(P)H-hydrate dehydratase activity (inferred); INVOLVED IN nicotinamide nucleotide metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH copper(2+) sulfate; tert-butyl hydroperoxide; zinc atom 13 13 13 q34 92114056 92138392 + 111267807 111292343 + 110615460 110639996 + 6480464;8554872 11042152;12477932;14702039;16344560;20379614;20877624;21906983;24611804;8125298 55739 B4DQR1;B7Z3Q0;Q8IW45 ABBA01026993;AF091088;AF151071;AK001631;AK024260;AK057767;AK058043;AK091867;AK093771;AK225129;AK296227;AK296758;AK298917;AK302117;AL139385;AMYH02028713;BC005150;BC006416;BC041028;BQ955656;CH471085;DA175011;DA435066;DA815628;NM_001242881;NM_001242882;NM_001242883;NM_018210;NR_040103;NR_040104 AAC72957;AAF36157;AAH41028;BAA91797;BAB14863;BAG52761;BAG59339;BAG61023;BAG63496;BAH12286;EAX09114;EAX09115;EAX09116;EAX09117;EAX09118;EAX09119;EAX09120;EAX09121;EAX09122;EAX09123;EAX09124;EAX09125;NP_001229810;NP_001229811;NP_001229812;NP_060680;Q8IW45 Hs.408324 1737515;1768632;1847986;1848257 Cda0ch07;D13S1047;D13S1152;SHGC-37618 FLJ10769;FLJ34548;FLJ52550;LP3298 ATP-dependent (S)-NAD(P)H-hydrate dehydratase;ATP-dependent NAD(P)HX dehydratase;OTTHUMP00000018702;carbohydrate kinase domain-containing protein protein-coding ENSG00000213995 HGNC:25576 07698 615910 VALIDATED 8655500 CARSP1 cysteinyl-tRNA synthetase pseudogene 1 15 15 15 45930995 45931723 + 69041840 69042568 + 68749501 68750229 + 100420042 ABBA01038775;AC090734;AMYH02030692;NG_025389 pseudo HGNC:50477 INFERRED 8553151 CASC11 cancer susceptibility candidate 11 (non-protein coding) 8 8 q24 128698588 128746210 - 127730332 127735767 - 18794855;24594601 100270680 ABBA01037946;AC103819;AC108925;AMYH02018761;BU941073;HG501694;HG501696;JX003873;KF510301;NR_117101;NR_117102;XR_426355;XR_428403;XR_432349 Hs.333720;Hs.742336 CARLo-7;LINC00990;TCONS_00014535 ncrna HGNC:48939 VALIDATED 1348766 CASC10 cancer susceptibility candidate 10 INTERACTS WITH 3,4-dichloroaniline; aflatoxin B1; cyclosporin A 10 10 10 p12.31 21471245 21474037 - 21783421 21786213 - 21490473 21497284 - 6480464 12477932;15164054;16344560;19322201;21804547 399726 Q5T4H9 ABBA01034498;AL358780;AMYH02022419;BC040880;BC130594;BC132974;CH471072;DA401077;NM_001010911;XR_428637 AAI30595;AAI32975;EAW86170;NP_001010911;Q5T4H9 Hs.315568 C10orf114;bA418C1.3 OTTHUMP00000019273;cancer susceptibility candidate gene 10 protein;putative uncharacterized protein C10orf114 APPROVED protein-coding HGNC:31448 16574 VALIDATED 7287306 CASC14 cancer susceptibility candidate 14 (non-protein coding) 6 6 6 p22.3 23368165 23380758 - 22134831 22147422 - 22134602 22147193 - 14702039;18463370;21124317;22941191 729177 ABBA01022298;AK126168;AL008732;AL512344;AMYH02013295;H15083;HG499041;NR_034143 Hs.730673 RP1-67M12.2 ncrna ENSG00000260455 HGNC:49075 VALIDATED 1314176 CARM1 coactivator-associated arginine methyltransferase 1 This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013] 19 19 19 p13.2 10877096 10928289 + 10982253 11033453 + 10871577 10923070 + 1359044;2293206;2326123;5128512;6480464;7242552;9491823;9479047;9586721;9586718 15221992;15866169;16394250;17163421;20423833;21074527;23887673;23912631;24583552 10381882;11050077;11701890;11724789;11747826;11751582;11850402;11983685;11997499;12237300;12374746;12477932;12498683;14500758;14729568;14966289;15096520;15186775;15383283;15471871;15489334;15616592;15731352;15944154;16254053;16330542;16344550;16497732;16508003;16705743;16923966;17005681;17043108;17053781;17124247;17218272;17403666;17640894;17882261;17882262;17898714;17934343;18172323;18280497;18413343;18511550;18660489;18950845;19101556;19183483;19188441;19322201;19405910;19419866;19660582;19725955;19843527;20022955;20085233;20111005;20213728;20360387;20462455;20811636;20932315;21030982;21126607;21138967;21139048;21145461;21242974;21282336;21410432;21445011;21478268;21890473;21903422;21906983;21952734;21963094;21988832;22046437;22053931;22179613;22190034;22428544;22451921;22505724;22723830;22863532;22863883;23000965;23265702;23301034;23349634;23434684;23455924;23486015;23505388;23663560;23699174;23837869;23915145;23980157;24211191;24332853;24434208;24778252;25036637;8619474;9110174 10498 K7EIQ8;K7EK20;K7EPK1;K7EQA8;K7EQB9;K7ERM3;Q86X55 ABBA01029885;ABBA01029886;ABBA01029887;ABBA01029888;AC007565;AC011442;AF055027;AL833242;AMYH02035509;AMYH02035510;AMYH02035511;AMYH02035512;AMYH02035513;BC036886;BC046240;BC070496;BU176535;CH471106;NM_199141;XM_005259708 AAH46240;AAI56436;AAI72490;EAW84155;EAW84156;NP_954592;Q86X55;XP_005259765 Hs.323213 1657748 STS-AA004344 PRMT4 histone-arginine methyltransferase CARM1;protein arginine N-methyltransferase 4 APPROVED protein-coding ENSG00000142453 HGNC:23393 09158 603934 VALIDATED 7245365 CASC16 cancer susceptibility candidate 16 (non-protein coding) 16 16 16 q12.1 37101451 37156347 - 52585999 52640887 - 52552087 52606975 - 12477932;17529967;17529974;19304784;19330030;19398914;20054709;20213080;20332101;20406955;20453838;20585626;20872241;21263130;21779176;23001122;23535729;23535733;24143190 643714 ABBA01066476;AC026462;AMYH02032033;AX971948;BC029912;BC034767;CH471092;DB462404;DB523777;HG508078;NR_033920 CAF17056;EAW82788 Hs.662199 1701084;1719301;1769438;1787652;1856088;2117680 D16S2950;RH104169;RH123373;SHGC-156094;SHGC-60775;SHGC-60806 LINC00918;RP11-297L17.1 APPROVED ncrna ENSG00000249231 HGNC:48608 VALIDATED 1321833 CARS cysteinyl-tRNA synthetase This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010] 11 11 11 p15.5 3056003 3112501 - 3022152 3078681 - 3000922 3057451 - 1580863;6480464 10908348;11347887;12112524;12477932;14702039;15489334;15592455;16344560;17303165;18029348;19041431;19252134;19394292;20201924;20306291;20460425;20834067;21139048;21832049;21906983;21963094;22863883;24068962;24816145;7987009;8125298;8468064 833 A8MVQ3;B4DKY1;B4DPV7;C9JLN0;E9PLP0;E9PPK8;E9PRS8;P49589 AB208814;ABBA01032074;AC001228;AC108448;AC131971;AF288206;AF288207;AI432096;AI608729;AK096313;AK125503;AK126135;AK131221;AK222614;AK289432;AK295371;AK296763;AK298514;AK302644;AK308005;AMYH02024200;AU133264;BC002880;BT009913;BX647906;CH471158;DC376478;L06845;NM_001014437;NM_001194997;NM_001751;NM_139273;NR_036542;XM_006718340;XM_006718341;XM_006725129;XM_006725130;XR_428857;XR_430701 AAA73901;AAG00578;AAG00579;AAH02880;AAP88915;ABM81699;BAD92051;BAD96334;BAF82121;BAG53256;BAG58331;BAG59343;BAG60719;BAG63885;CAI46108;EAX02536;EAX02537;EAX02538;EAX02539;EAX02540;EAX02541;NP_001014437;NP_001181926;NP_001742;NP_644802;P49589;XP_006718403;XP_006718404;XP_006725192;XP_006725193 Hs.274873 1720901;1737825;2132956;2166752;5024756;5113398 A006N36;D11S3440;G59279;RH27287;RH48478;RH80030 CARS1;CYSRS;MGC:11246 OTTHUMP00000012604;OTTHUMP00000012605;OTTHUMP00000012668;cysteine tRNA ligase 1, cytoplasmic;cysteine translase;cysteine--tRNA ligase;cysteine--tRNA ligase, cytoplasmic;cysteine-tRNA ligase;cysteinyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000110619 HGNC:1493 00464 123859 REVIEWED 1605714 CARTPT CART prepropeptide This gene encodes a secreted protein which is processed by prohormone/proprotein convertases to produce smaller, biologically active peptides. Expression of the transcript for this gene is regulated by certain drugs such as cocaine, and the encoded protein is thought to be involved in the regulation of appetite and stress. Mutations in this gene are associated with susceptibility to obesity.[provided by RefSeq, Nov 2009] 5 5 5 q13.2 66910678 66912563 + 71014990 71016875 + 71719163 71721048 + 1625192;2313632;2313633;2313634;6480464;8554872 10574510;10805512;11522684;16443761 10235641;10905499;11478874;11711504;11791158;11857741;12147208;12477932;12654232;15234472;15326462;15340161;15489334;15597110;15680948;15823203;15908120;16102267;16146347;16210370;16309793;16614075;16784796;17008116;17105939;17525122;17631364;18572320;19058789;19077438;19086053;19110485;19356602;19874574;19876004;19913121;20151954;20186155;20362026;20468064;20628086;21605873;21803054;21832817;21921635;21982860;22139072;22235287;22257587;22332848;22436349;22553341;23034261;23086924;23277430;23646285;8647455;8889548;9590691 9607 Q16568 ABBA01061898;AC143336;AI417979;AMYH02011549;BC029882;CH471084;CK300473;CR542216;NG_015988;NM_004291;U16826;U20325 AAB08010;AAB08011;AAH29882;ACE86636;ACE87318;CAG47012;EAW95694;NP_004282;Q16568 Hs.1707 1655832;1655834;2113792;2166151;2218336 CART;CART_3224;D5S2377;STS-U16826;WI-19012 CART OTTHUMP00000161935;cocaine and amphetamine regulated transcript;cocaine- and amphetamine-regulated transcript protein APPROVED protein-coding ENSG00000164326 HGNC:24323 04006 602606 REVIEWED 1606504 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative) ENCODES a protein that exhibits ATP binding (inferred); metal ion binding (inferred); INVOLVED IN gene expression (inferred); tRNA aminoacylation for protein translation (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH formaldehyde; methyl methanesulfonate; phenobarbital 13 13 13 q34 92139805 92204660 - 111293757 111358480 - 110641410 110713601 - 6480464 12477932;14702039;15057823;15489334;15779907;16344560;20379614;20877624;24654937;24816145 79587 B7Z7E6;F5H579;F5H623;H0YFF0;H0YFV1;H0YGF2;Q9HA77 AB062436;ABBA01026991;ABBA01026992;ABBA01026993;AK022180;AK091992;AK092947;AK124505;AK301907;AL139385;AL157820;AMYH02028713;BC007220;BE464542;BX648882;BX649191;CH471085;DA966145;NM_024537;XM_006719953;XR_243047;XR_243048;XR_243049;XR_243051 AAH07220;BAB13978;BAB93499;BAH13582;CAE46210;CAH10378;EAX09126;NP_078813;Q9HA77;XP_006720016 Hs.508725 1718801;1725533;1738421;1739625;2121522 D13S1213E;D13S675E;RH119165;RH123104;RH45363 DKFZp667A2315;DKFZp686G08243;FLJ12118;FLJ42514;cysRS OTTHUMP00000018707;cysteine tRNA ligase 2, mitochondrial (putative);cysteine--tRNA ligase;probable cysteine--tRNA ligase, mitochondrial;probable cysteinyl-tRNA synthetase, mitochondrial protein-coding ENSG00000134905 HGNC:25695 07763 612800 VALIDATED 8548766 CASC19 cancer susceptibility candidate 19 (non-protein coding) q24.21 24594601 103021165 AC020688;BI223175;DW435273;JX003871;NR_120364 Hs.573407 CARLo-6;LINC01245 APPROVED ncrna HGNC:49476 VALIDATED 1322554 CASC1 cancer susceptibility candidate 1 ENCODES a protein that exhibits beta-tubulin binding (inferred); microtubule binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasmic microtubule (inferred); INTERACTS WITH diethylstilbestrol; methyl methanesulfonate; benzo[a]pyrene (ortholog) 12 12 12 p12.1 30408204 30495049 - 25261223 25348096 - 25108289 25195162 - 737633;6480464;8554872 12477932 14583591;14702039;16344560;16410263;18299280;19389623;20639392;20734064;22990118;8889548 55259 B4DY27;F8W8F9;G3V2J3;G3V333;G3V3G6;H0YJM7;Q6TDU7 ABBA01068015;ABBA01068016;ABBA01068017;AC023510;AC092794;AK001783;AK093102;AK297998;AK301763;AK302235;AK304602;AMYH02026218;AMYH02026219;AY423543;BC028415;BC031047;BC047415;BC057795;BC117281;BC117283;BM979714;CH471094;DA753279;NM_001082972;NM_001082973;NM_001204101;NM_001204102;NM_018272;XM_005253406;XM_005253407;XM_005253408;XM_005253409;XM_005253410;XM_005253411;XM_006719100;XM_006719101;XM_006719102 AAH28415;AAH47415;AAH57795;AAI17282;AAI17284;AAQ93499;BAA91908;BAG52654;BAG60304;BAG63223;BAG63589;BAG65388;EAW96507;EAW96508;EAW96509;NP_001076441;NP_001076442;NP_001191030;NP_001191031;NP_060742;Q6TDU7;XP_005253463;XP_005253464;XP_005253465;XP_005253466;XP_005253467;XP_005253468;XP_006719163;XP_006719164;XP_006719165 Hs.407771 1689091;1705476;1754055;2107281;2109109;2118361;2129902;2144912;2154617 CASC1_9888;D12S1350E;LRMP_7815;RH17991;RH45039;RH92803;SHGC-132095;SHGC-83826;STS-AA005176 FLJ10921;LAS1;PPP1R54 OTTHUMP00000196569;OTTHUMP00000196570;OTTHUMP00000196571;OTTHUMP00000196572;OTTHUMP00000245368;OTTHUMP00000245369;cancer susceptibility candidate gene 1 protein;cancer susceptibility candidate protein 1;lung adenoma susceptibility 1-like protein;protein phosphatase 1, regulatory subunit 54 protein-coding ENSG00000118307 HGNC:29599 16684 VALIDATED 8548745 CASC21 cancer susceptibility candidate 21 (non-protein coding) q24.21 24594601 103021164 AC018714;AL709378;JX003867;NR_117099 Hs.571531 CARLo-2;LINC01244 ncrna HGNC:49836 VALIDATED 7494060 CASC18 cancer susceptibility candidate 18 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 12 12 106097981 106137832 + 105704203 105744063 + 8554872 14702039;23419831 101929110 AB849958;AB849959;AB849960;AB849961;AB849962;AB849963;AB849964;ABBA01053175;AC079851;AC084356;AK001551;AMYH02027120;AMYH02027121;HG505137;HG505138;NR_110108;NR_110109;NR_110110;NR_110111 Hs.145944 RP11-266E14.1 ncrna ENSG00000257859 HGNC:49463 VALIDATED 5467112 CASC15 cancer susceptibility candidate 15 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (+)-catechin 6 6 6 p22.3 22900001 23427935 + 21666675 22194629 + 21666444 22194400 + 8554872 12477932;14702039;16543943;18463370;21124317;21946350;22941191;23284291 401237 ABBA01022283;ABBA01022284;ABBA01022285;ABBA01022286;ABBA01022287;ABBA01022288;ABBA01022289;ABBA01022290;ABBA01022291;ABBA01022292;ABBA01022293;ABBA01022294;ABBA01022295;ABBA01022296;ABBA01022297;ABBA01022298;AF086455;AK022865;AK026189;AK094718;AK096633;AK300802;AK310212;AL008732;AL136179;AL136313;AL160260;AL161436;AL359694;AL512344;AMYH02013279;AMYH02013280;AMYH02013281;AMYH02013282;AMYH02013283;AMYH02013284;AMYH02013285;AMYH02013286;AMYH02013287;AMYH02013288;AMYH02013289;AMYH02013290;AMYH02013291;AMYH02013292;AMYH02013293;AMYH02013294;AMYH02013295;BC044235;HG499036;HG499037;HG499038;KF458110;KF458112;KF510947;NR_015410 BAG62460 Hs.712707 1336201;1337435;1338975;1339844;1644279;1650282;1660886;1662730;1667727;1674527;1674934;1694192;1706088;1710984;1715641;1715803;1717755;1722789;1722923;1723123;1732007;1732009;1768908;1786032;1788820;1788824;1788852;1788872;1788912;1850354;2112234;2153451;2157375;2162535;2184393;2184697;5016781;5022651 A004M23;AL008737;D11S2921;D6S1029;D6S1501;D6S1588;D6S1597;D6S1686;D6S2148;D6S2250;D6S506;D6S507;G17038;G60336;G60558;G67600;G67601;G67602;G67603;G67604;RH119266;RH119598;RH121785;RH123746;RH15831;RH46644;RH46729;RH64859;RH66723;SGC36817;SHGC-155368;SHGC-30550;SHGC-67307;SHGC-80081;SHGC-84864;WI-12018;WI-13536;WI-18694 FLJ12803;FLJ17254;FLJ22536;FLJ51318;LINC00340 APPROVED ncrna ENSG00000272168 HGNC:28245 PREDICTED 8694055 CASC23 cancer susceptibility candidate 23 (non-protein coding) p15.4 103581031 AC116456;BC027619;NR_125366 Hs.249366 LINC01464 ncrna HGNC:50865 VALIDATED 1349507 CASC2 cancer susceptibility candidate 2 (non-protein coding) 10 10 10 q26.11 113536133 113700235 + 119806332 119969665 + 118046821 118210153 + 12477932;14702039;15024726 255082 Q6XLA1;Q8IU53 ABBA01062935;ABBA01062936;AC005879;AC022395;AI219353;AJ344228;AJ535620;AJ535621;AJ535622;AK055184;AMYH02023891;AMYH02023892;AMYH02023893;AY226450;AY226451;BC036393;BC112306;BC112308;BC112326;CH471066;HG503298;HG503300;HG503302;KF510331;NR_026939;NR_026940;NR_026941 AAP48615;CAC83044;CAD59605;CAD59606;CAD59607;EAW49419;EAW49420;EAW49421;EAW49422;Q6XLA1;Q8IU53 Hs.89387 1334689;1338553;1654197;1678005;1683553;1722489;1723329;1766733;1770153;1779258;1781232;1846943;2110305;2142524;2179294 CASC2__4511;D10S1236;D10S190;G60168;RH118480;RH44845;RH45265;RH91959;RH93245;SHGC-152014;SHGC-153065;SHGC-35089;U64663;U75536;stSG68076 C10orf5;MGC117219 APPROVED ncrna ENSG00000177640 HGNC:22933 12266 608598 VALIDATED 7267115 CASC17 cancer susceptibility candidate 17 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 17 17 q24.3 69000585 69198320 - 71097774 71202179 - 8554872 12477932;17603485;18264097;19767753;21743057;23284291 101928165 ABBA01028912;ABBA01028913;AC005273;AMYH02033914;BC039327;BI459971;HG509385;NR_104152 Hs.407613 LINC00600;RP11-879D6.1 ncrna ENSG00000260785 HGNC:43911 VALIDATED 5488961 CASC4P1 cancer susceptibility candidate 4 pseudogene 1 13 13 20131972 20139336 - 19557832 19565196 - 100420689 ABBA01068556;AL359457;AMYH02027616;NG_024833 pseudo HGNC:39251 INFERRED 7771871 CASC20 cancer susceptibility candidate 20 (non-protein coding) 20 20 6407379 6509106 + 6426732 6528459 + 8619474;9110174 101929244 ABBA01053903;ABBA01053904;ABBA01053905;AL121911;AL162504;AMYH02036661;AMYH02036662;AY007089;HG511158;NR_109953 Hs.542488 RP11-199O14.1 ncrna ENSG00000229876 HGNC:49477 VALIDATED 1353876 CASC3 cancer susceptibility candidate 3 The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008] 17 17 17 q21.1 34957057 34988947 + 38296507 38328431 + 40140254 40172178 + 1580863;6480464;6907045 11980659;12080473;12477932;12843282;14702039;14973490;15166247;15489334;15680326;16170325;16314458;16344560;16495234;16601204;16923391;16931718;17081983;17652158;18029348;18332872;19322201;19410547;21139048;21145461;21327427;21906983;21988832;22094256;22190034;23084401;23530232;24457600;24816145;7490069 22794 B4DKR6;J3KSY7;J3QSC4;K7EQ38;O15234 ABBA01031840;ABBA01031841;ABBA01031842;AC068669;AK096126;AK292425;AK296682;AK310635;AMYH02033394;AMYH02033395;BC030008;BC044656;BC050526;CA427444;CH471152;DB082647;NM_007359;X80199;XM_005257163 AAH44656;AAH50526;BAF85114;BAG59278;CAC27699;EAW60643;EAW60644;NP_031385;O15234;XP_005257220 Hs.743287 1734450;1734474;1770838;1770840;2114988 A002D45;D17S1417E;D17S1436E;G19968;SGC31792 BTZ;MLN 51;MLN51 OTTHUMP00000164448;barentsz;cancer susceptibility candidate gene 3 protein;metastatic lymph node 51;metastatic lymph node gene 51 protein APPROVED protein-coding ENSG00000108349 HGNC:17040 16225 606504 REVIEWED 7247327 CASC9 cancer susceptibility candidate 9 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 8 8 q21.11 76135352 76190716 - 75223117 75278481 - 8554872 12477932;15146197;21130836 101805492 ABBA01041992;ABBA01041993;AC022274;AI205540;AMYH02018240;AMYH02018241;BC062758;BE866214;CN273839;CN418510;CX870402;NR_103848;NR_103849;NR_103850 Hs.571424 LINC00981 ncrna HGNC:48906 VALIDATED 7264882 CASC6 cancer susceptibility candidate 6 (non-protein coding) 6 6 q15 92338758 92400146 - 91629040 91690428 - 12477932 101929083 ABBA01040566;AL132766;AMYH02014110;BC037927;HG499449;KF458221;NR_104154 Hs.586238 RP3-433F14.3 ncrna HGNC:49076 VALIDATED 1603284 CASC4 cancer susceptibility candidate 4 The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010] 15 15 15 q15.3 21470694 21597720 + 44580909 44707959 + 44288616 44415761 + 6480464 10497265;12477932;12764679;12845212;12975309;14702039;15604093;16344560;17207965;19322201;21832049 113201 H0YKJ7;H0YM51;H0YMR0;H0YN36;Q6P4E1 ABBA01039208;ABBA01039209;ABBA01039210;ABBA01039211;ABBA01039212;ABBA01039213;ABBA01039214;AC025043;AC090519;AF103804;AK022565;AK095068;AK098265;AK291026;AK298564;AL832333;AL832840;AMYH02030334;AMYH02030335;AMYH02030336;AMYH02030337;AMYH02030338;AMYH02030339;AY358086;BC012124;BC041786;BC063480;BG327802;BI467176;CH471082;DB229269;NM_138423;NM_177974;XM_006720380;XM_006720381 AAH12124;AAH63480;AAQ88453;ADQ32536;BAC05272;BAF83715;BAG60758;EAW77257;EAW77258;EAW77259;EAW77260;EAW77261;EAW77262;EAW77263;EAW77264;NP_612432;NP_816929;Q6P4E1;XP_006720443;XP_006720444 Hs.512867 1650321;1682093;2119421;2156903;5014051;5020948;5024761;5037552;5109396;5127223 D15S628E;D8S2278;D8S2279;G17838;G35510;RH27235;RH36905;RH47707;SHGC-58376;STS-AA016055 DKFZp459F1927;H63;MGC74708 OTTHUMP00000161778;OTTHUMP00000161779;cancer susceptibility candidate gene 4 protein;gene associated with HER-2/neu overexpression APPROVED protein-coding ENSG00000166734 HGNC:24892 11018 REVIEWED 6481396 CASK-AS1 CASK antisense RNA 1 p11.4 100873928 AA961433;AL445239;BE463818;HG512502 Hs.495984 APPROVED ncrna HGNC:40126 7247421 CASC7 cancer susceptibility candidate 7 (non-protein coding) q24.3 12477932;14702039 286109 AK092172;BC033700 Hs.660189;Hs.743313 LINC00980 long intergenic non-protein coding RNA 980 protein-coding HGNC:48905 7247384 CASC8 cancer susceptibility candidate 8 (non-protein coding) 8 8 8 q24.21 124635547 124674165 - 128455595 128494384 - 127443350 127482139 - 16682969;17401363;17401366;18372901;19767754;24594601 727677 ABBA01037942;ABBA01037943;AC016883;AC018714;AMYH02018756;AMYH02018757;DQ515896;DQ515897;DQ515898;DQ515899;HG501690;HG501692;JX003864;JX003865;JX003866;KF458846;KF510300;KF511063;NR_024393;NR_117100;XR_252473;XR_428402 Hs.673248;Hs.736625 CARLo-1;LINC00860;RP11-382A18.1 ncrna ENSG00000246228 HGNC:45129 VALIDATED 1603976 CASC5 cancer susceptibility candidate 5 The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013] 15 15 15 q14 17654336 17722770 + 40886447 40954881 + 40594249 40662683 + 6480464;7240710;8699517;8554872 10780384;10980622;10997877;12087463;12477932;12618766;12618768;15231748;15371340;15502821;15579588;15824131;16565220;16622420;17081983;17981135;18029348;18045986;18771174;19141287;19389623;19471022;20220147;20231380;20231385;20301772;20360068;21139048;21199919;21272090;21693764;21906983;21963094;22000412;22193957;22505724;22660415;22983954;23667531;24250222;24344183;24344188;24361068;24363448;24816145;8700511 57082 E9PPJ1;H0YCZ2;H0YEY7;H0YN41;Q8NG31 AB022190;AB046790;ABBA01038440;ABBA01038441;ABBA01038442;AC022405;AF173994;AF248041;AF461041;AK307605;AK307996;AMYH02030244;AMYH02030245;BC014306;BC029373;BC043597;BQ776141;CH471125;NG_033114;NM_144508;NM_170589;U52052 AAF97513;AAH29373;AAI72422;AAL67803;AAM45143;BAB13396;BAC05691;EAW92429;EAW92430;NP_653091;NP_733468;Q8NG31 Hs.181855 1335756;1654801;1670284;1688636;1712761;1718487;2111264;2152406 D15S506;D20S867;RH120094;RH122445;RH93617;SGC44363;SHGC-44363;STS-T81591 AF15Q14;CT29;D40;KIAA1570;KNL1;MCPH4;PPP1R55;Spc7;hKNL-1;hSpc105 ALL1-fused gene from chromosome 15q14 protein;OTTHUMP00000233260;OTTHUMP00000233262;OTTHUMP00000233428;blinkin, bub-linking kinetochore protein;bub-linking kinetochore protein;cancer susceptibility candidate gene 5 protein;cancer/testis antigen 29;kinetochore null 1 homolog;kinetochore-null protein 1;protein phosphatase 1, regulatory subunit 55 protein-coding ENSG00000137812 HGNC:24054 10634 604321;609173 REVIEWED 1603612 CASD1 CAS1 domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 7 7 7 q21.3 88837411 88884573 + 94138838 94186331 + 94509519 94557019 + 6480464;8554872 11528394;11703667;12477932;14702039;19322201;20947662 64921 C9JDR3;F8WDQ7;F8WDW8;Q8WZ77;Q96PB1 AB073397;ABBA01045782;AC002528;AC096662;AF355594;AF397424;AK024866;AK025532;AK123866;AK123895;AK314329;AMYH02016285;BC029543;BC050313;BC063284;CH236949;CH471091;NM_022900;XM_006716092;XM_006716093 AAB69978;AAH63284;AAK97479;AAL33538;BAB15028;BAB15163;BAE45726;BAG36976;BAG53975;EAL24136;EAW76789;EAW76790;EAW76791;EAW76792;EAW76793;NP_075051;Q96PB1;XP_006716155;XP_006716156 Hs.260041 1649659;2172634;5094402;7186332 D7S1434;G54776;STS-R16109 C7orf12;FLJ21213;FLJ21879;FLJ41901;NBLA04196 CAS1 domain-containing protein 1;O-acetyltransferase;OTTHUMP00000163031;WUGSC:H_GS542D18.2 protein-coding ENSG00000127995 HGNC:16014 13004 611686 VALIDATED 1351061 CASKIN1 CASK interacting protein 1 INVOLVED IN signal transduction (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH aflatoxin B1; cadmium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p13.3 2441604 2476669 - 2227184 2246479 - 2177183 2196476 - 632380;1580863;6480464;8554872 12040031 10718198;12477932;14968112;15032605;20881960;21763699;22153505 57524 Q8WXD9 AB037727;ABBA01030269;ABBA01030270;ABBA01030271;AC009065;AF451977;AMYH02031245;AMYH02031246;BC042011;CH471112;NM_020764;XM_005255458 AAH42011;AAL49758;BAA92544;EAW85543;EAW85544;EAW85545;NP_065815;Q8WXD9;XP_005255515 Hs.643537 1662992;1664128;1683166;1688514;1722265;1736574;1745955;1778320;2142045;2146291 AI481330;Bdac6f06;D16S2568E;G60043;RH79588;RH98228;SHGC-61344;STS-W72364;STS-W86181;WIAF-1628 ANKS5A CASK-interacting protein 1;caskin-1 protein-coding ENSG00000167971 HGNC:20879 10809 612184 VALIDATED 1344893 CASKP1 calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene 1 X Y Y q11 2035221 2053549 - 15041766 15060093 - 12929856 12948185 - 12815422 10029 ABBA01065592;ABBA01065593;AC004474;AC244434;NG_002805 1746047 G49204 CASKP APPROVED pseudo HGNC:1498 INFERRED 1320238 CASKIN2 CASK interacting protein 2 This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 17 17 17 q25.1 70090213 70105647 - 73496341 73511664 - 75500260 75515583 - 632380;1580863;6480464 12040031 10574461;12477932;15489334;15592455;16094384;16344560;17081983;19531213;21139048;21805519;24250222 57513 J3QKS3;J3QRN1;Q8WXE0 AB032965;ABBA01028787;ABBA01028788;AC100787;AF451976;AK025262;AK300354;AK315936;AMYH02033999;BC032359;BC066643;BM994645;CH471099;DA105579;DA336467;DA538297;DC318119;NG_033152;NM_001142643;NM_020753 AAH66643;AAL49757;BAA86453;BAG62095;BAH14307;EAW89278;NP_001136115;NP_065804;Q8WXE0 Hs.274408;Hs.745460 1686118;1758471;2153425 RH25408;RH71445;SHGC-148423 ANKS5B;FLJ21609;KIAA1139 CASK-interacting protein 2;caskin-2 protein-coding ENSG00000177303 HGNC:18200 09872 612185 REVIEWED 733678 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] X X X p11.4 45516432 45924508 - 41374187 41782415 - 41514934 41923155 - 734690;1580863;6480464;6484113;7240710;8554872;8699517 9722958 10455105;10460248;10749215;10856295;10993877;11003712;11036064;11120739;11356864;11377421;11679592;11742811;11880184;12006486;12040031;12093160;12110687;12151521;12151522;12202822;12351654;12477932;12511555;12522552;12641734;12676536;14627983;14702039;14960569;15024025;15066269;15123239;15231748;15331416;15673434;15694377;15729360;16637659;16688213;16842202;17287346;18423203;18629876;18664494;19019082;19125693;19165920;19200522;19322201;19523119;19615732;19736351;19781660;19847910;20006588;20029458;20623620;21139048;21590270;21735175;21763699;21855798;21890473;21906983;21954287;21988832;22389404;22452838;22709267;23165780;23406872;23443559;23543616;23600800;23602568;23864692;24250222;24278995;24722188;8786425;9225980;9546224;9660868;9660869;9753324;9822620;9952408 8573 O14936;Q5JS72;Q5JS74;Q5JS79 AB039327;AB208859;ABBA01046606;ABBA01046607;ABBA01046608;ABBA01046609;ABBA01046610;ABBA01046611;ABBA01046612;ABBA01046613;ABBA01046614;ABBA01046615;ABBA01046616;ABBA01046617;ABBA01046618;ABBA01046619;ABBA01046620;ABBA01046621;ABBA01046622;ABBA01046623;ABBA01046624;ABBA01046625;ABBA01046626;ABBA01046627;ABBA01046628;ABBA01046629;ABBA01046630;ABBA01046631;ABBA01046632;ABBA01046633;ABBA01046634;ABBA01046635;ABBA01046636;ABBA01046637;ABBA01046638;ABBA01046639;ABBA01046640;ABBA01046641;ABBA01046642;ABBA01046643;ABBA01046644;ABBA01046645;ABBA01046646;ABBA01046647;ABBA01046648;ABBA01046649;ABBA01046650;ABBA01046651;ABBA01046652;ABBA01046653;ABBA01046654;ABBA01046655;ABBA01046656;ABBA01046657;AF032119;AF035582;AF262404;AF262405;AK025872;AK056476;AK313399;AL158144;AL353691;AL445239;AL603754;AL627402;AMYH02039216;AMYH02039217;AMYH02039218;AMYH02039219;AMYH02039220;AY705392;BC029936;BC035990;BC117311;BC143454;BC143456;CH471141;DN993605;KF459071;KF459072;NG_016754;NM_001126054;NM_001126055;NM_003688;XM_005272686;XM_006724565;XM_006724566 AAB88125;AAB88198;AAF72666;AAF72667;AAI17312;AAI43455;AAI43457;AAU10527;ADR83272;BAB12252;BAD92096;EAW59390;EAW59391;EAW59392;EAW59393;NP_001119526;NP_001119527;NP_003679;O14936;XP_005272743;XP_006724628;XP_006724629 Hs.495984 1336894;1659736;1667537;1671790;1677128;1688354;1701874;1702962;1711828;1732415;1787294;1791075;1797626;1797658;1848730;1855503;2106969;2159637;2177132 CASK__4512;DXS1387;DXS1392;DXS1694;DXS8113;G49441;GPR34_2219;GPR82_2567;L77315;RH17463;RH27222;RH68671;RH69317;RH78452;RH98899;SHGC-146100;SHGC-35026;SHGC-35951;UniSTS:256961 CAGH39;CMG;FGS4;FLJ22219;FLJ31914;LIN2;MICPCH;MRXSNA;TNRC8;hCASK CAMGUK;OTTHUMP00000023157;OTTHUMP00000023159;OTTHUMP00000023160;OTTHUMP00000023161;OTTHUMP00000023162;OTTHUMP00000226872;calcium/calmodulin-dependent serine protein kinase;calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase;peripheral plasma membrane protein CASK;protein lin-2 homolog;trinucleotide repeat containing 8 APPROVED protein-coding ENSG00000147044 HGNC:1497 02164 300172;300422;300749 REVIEWED 735988 CASP1 caspase 1, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012] 11 11 11 q23 102060400 102070022 - 104896235 104905884 - 105025508 105035190 - 1580863;1300048;2293624;2315884;2298754;2315887;2315889;2315890;2315892;2315913;2315919;2315886;2315888;2315917;2315883;5130192;4889574;5130181;5130182;5130189;5130187;5490211;5490210;6480464;6484113;6907045 10557324;11221855;12396474;15196254;16333955;16557226;16886979;17188500;17278232;17303764;17375183;17384935;17845807;18367607;18398369;19265174;19302047;19362023;19853379;20303873;20974310 10069390;10329646;10353249;10438581;10477277;10510468;10660263;10708425;10799503;11085743;11226410;11374873;11390368;11432859;11437653;11438643;11472070;11536016;11684016;11821383;11953316;11967258;11997061;12019269;12096920;12170183;12191486;12215842;12387869;12459189;12459463;12477932;12628757;12692130;12761501;12888622;1321594;1373520;14584052;14669344;15030775;15039421;15107016;15296730;15326478;15383541;15471361;15489334;15498465;15561713;1574116;15749123;15809717;16037825;16087165;16123779;16260731;16286016;16405550;16428475;16575408;16621994;16778130;16780720;16785446;16817903;16903774;16920334;17036048;17173859;17196042;17207965;17360653;17418785;17477815;17597823;17623017;17703412;17959595;18029348;18209072;18263705;18263805;18304957;18329368;18523309;18550243;18577712;18590738;18799371;18828051;18981155;19013323;19074885;19117953;19141860;19158676;19158679;1919001;19258923;19269008;19275586;19382257;19414860;19439663;19573080;19593445;19648107;19737897;19773279;19779610;19825518;19833722;19913121;20038581;20048342;20060974;20170165;20184726;20197547;20402676;20485444;20503287;20628086;20808838;20852925;20855536;20959405;21037509;21048031;21052690;21311905;21320026;21463955;21757759;21792841;21832064;21862576;21862623;22046355;22046441;22195745;22227487;22491736;22537218;22833538;22837397;23021143;23209292;23226468;23236067;23278288;23386603;23508996;23590971;23637985;23703390;23793845;23839215;23884363;24022484;24130483;24275551;24356306;24481253;25015289;7642516;7721861;7797510;7876192;8034320;8035875;8044845;8125298;8861900;8962078;8978814;8999548;9002959;9070648;9115219;9190289;9219695;9250871;9334240;9334338;9435230;9535906;9548463;9593687;9632733;9705209;9705938;9727491;9792675;9804161;9830039;9875225;9894612;9987822;9990034 834 A8K249;A8K257;B4DVD8;G3V169;H0YEC7;P29466;Q5FBZ0 AA505065;AA737419;AA761907;AB102878;ABBA01039912;AK223503;AK290114;AK290122;AK296646;AK301037;AK310059;AK313516;AMYH02025506;AP001153;AY660536;BC041689;BC062327;CH471065;KF455483;M87507;NG_029124;NM_001223;NM_001257118;NM_001257119;NM_033292;NM_033293;NM_033294;NM_033295;U13697;U13698;U13699;U13700;X65019;XM_006718924 AAA66942;AAC50107;AAC50108;AAC50109;AAC50110;AAH41689;AAH62327;AAT72297;ADQ32141;BAD89407;BAD97223;BAF82803;BAF82811;BAG36296;BAG59246;BAG62650;CAA46153;EAW67057;EAW67058;EAW67059;EAW67060;EAW67061;NP_001214;NP_001244047;NP_001244048;NP_150634;NP_150635;NP_150636;NP_150637;P29466;XP_006718987 Hs.2490 1683557;1708054;1739603;2145768;5120157 D11S4052E;GDB:197846;IL1BCE;RH93671;SHGC-81423 CASP-1;ICE;IL-1BC;IL1BC;P45 CASP1 nirs variant 1;IL-1 beta-converting enzyme;IL1B-convertase;OTTHUMP00000045728;OTTHUMP00000232029;OTTHUMP00000232030;OTTHUMP00000232031;OTTHUMP00000232032;OTTHUMP00000232033;OTTHUMP00000232034;OTTHUMP00000232036;caspase 1;caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase);caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase);caspase-1;interleukin 1, beta, convertase;interleukin 1-B converting enzyme;interleukin 1-beta convertase;interleukin-1 beta convertase;interleukin-1 beta-converting enzyme APPROVED protein-coding ENSG00000137752 HGNC:1499 00977 147678 REVIEWED 1323414 CASP14 caspase 14, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15058743 15062628 + 15160291 15169104 + 15049480 15058293 + 1580863;6480464;8554872 10203698;11062009;11121154;11175259;12181750;12200134;12445205;12477932;1286667;15331408;15489334;15619438;16061209;16061862;16168224;16341674;16854378;17207965;17359582;17436577;17558860;18309324;18424262;18762957;19269008;19414860;19573080;19615732;19747408;19773279;19960512;20237496;20402676;20533828;20562859;21139048;21145461;21539619;21567094;21800051;21930782;22354994;22548721;22825846;22876114;23349634;23362869;23377137;23408445;23580611;23645350;23750785;24244333;24872419;9792675;9823333 23581 B2CIS9;P31944 ABBA01051094;AC004699;AF097874;AK313992;AMYH02035639;BC069541;BC103868;BC103869;BM840054;CH471106;EU262664;EU502748;NM_012114 AAD16173;AAH69541;AAI03869;AAI03870;ABX83060;ACA63845;ADQ32904;BAG36704;EAW84459;NP_036246;P31944 Hs.466057 2111312 DXS6776 MGC119078;MGC119079 CASP-14;apoptosis-related cysteine protease;caspase 14, apoptosis-related cysteine protease;caspase-14 APPROVED protein-coding ENSG00000105141 HGNC:1502 05788 605848 REVIEWED 1342676 CASP13 caspase 13, apoptosis-related cysteine protease 9624166 338022 AF078533 HGNC:1501 1348077 CASP12 caspase 12 (gene/pseudogene) Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011] 11 11 q22.3 104756445 104769397 - 104886691 104898670 - 2311450;2311451;2311485;1299333;2311466;2311453;2311461;2311467;2311449;2311454;2311455;2311458;2311470;6480464;8554872 12598725;14675152;15855338;16092975;16574987;16847061;18273070;18603371;18675883;18787714;19215662;19301230;19406177 11278723;11329013;11943137;12054529;12975309;14532116;15033764;15129283;16532395;16917906;17574210;18329614;18332441;18710920;18791174;19447924;19721713;20031604;20041182;20299359;20299368;20423816;20577092;20646990;21706251;21872999;23074197;24515649;9038361 100506742 D6RAQ6;D6RBW4;D6RC33;D6RG27;D6RIR9;D6RJG1;Q6UXS9 ABBA01039913;ABBA01039914;AF464191;AF464192;AF464193;AF464194;AF464195;AF486844;AF486845;AF486846;AF486847;AMYH02025506;AP002004;AY358222;BG183061;KF459667;KF495790;KF495792;NG_028201;NM_001191016;NR_034061;NR_034063;NR_034064;NR_034065;NR_034066;NR_034067;NR_034068;NR_034070;NR_034071 AAQ88589;NP_001177945;Q6UXS9 Hs.476989 CASP-12;CASP12P1 OTTHUMP00000207026;OTTHUMP00000207028;OTTHUMP00000207029;OTTHUMP00000207030;OTTHUMP00000207031;OTTHUMP00000207032;OTTHUMP00000212525;OTTHUMP00000219058;caspase 12;caspase 12 pseudogene 1;inactive caspase-12 APPROVED protein-coding ENSG00000204403 HGNC:19004 608633 REVIEWED 6480923 CASP1P1 caspase 1, apoptosis-related cysteine peptidase pseudogene 1 11 11 104993948 104994070 - 105123221 105123343 - 23897914 100874457 ABBA01039912;AMYH02025507;AP001153;NG_032566 pseudo HGNC:43775 INFERRED 5688830 CASP1P2 caspase 1, apoptosis-related cysteine peptidase pseudogene 2 11 11 11 q22.3 102098247 102105766 - 104933938 104942249 - 105063211 105071514 - 19773279 440067 ABBA01039912;AMYH02025506;AP001153 pseudo HGNC:43776 MODEL 5688833 CASP1P3 caspase 1, apoptosis-related cysteine peptidase pseudogene 3 11 11 11 102130349 102132500 - 104966165 104968316 - 105095438 105097589 - 100422634 ABBA01039912;AMYH02025507;AP001153;NG_024409 1652545 STS-N29857 pseudo HGNC:43777 INFERRED 5688796 CASP16 caspase 16, apoptosis-related cysteine peptidase (putative) INVOLVED IN proteolysis (inferred) 16 16 16 p13.3 3399629 3405561 + 3194016 3199961 + 3144015 3149960 + 6480464 12477932;14702039;15489334;15616553;18281271;9847080 197350 P0CB46 AC108134;AF098666;AK096989;AMYH02031283;BC111724;XM_003403459;XM_003960598 P0CB46;XP_003403507;XP_003960647 Hs.434132 5015961 D15S1477 CASP14L putative caspase-14-like protein;putative caspase-16 protein-coding HGNC:27290 MODEL 1347736 CASP10 caspase 10, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] 2 2 2 q33-q34 195802231 195848720 + 202047621 202094129 + 201182898 201229406 + 1580863;2314187;6480464;6484113;6907045;7240710;8554872;8699517 17082813 10187817;10412980;10432301;10716992;10734073;11002417;11048727;11098060;11161814;11395500;11583996;1171445;11717445;11832478;11973654;12010812;12037669;12198154;12388546;12477932;12527898;12884866;12887920;14687710;14688482;14759258;14761933;15069192;15280356;15452117;15500642;15659383;15735701;15767684;15772077;16186808;16251207;16344560;16446975;16767158;170210;17071630;17085968;17159907;17450141;17479112;17534194;17623017;17822854;17999750;18381704;18563783;18676680;18716417;18823309;19074885;19141860;19166881;19170196;19219602;19269008;19380486;19414860;19423537;19550122;19604093;19625176;19641626;19692168;19773279;19784808;19826114;19861680;19900088;19902255;20025484;20301287;20402676;20453000;20467438;20644561;20661084;20800603;20802294;20829884;20855536;20959405;20978178;21048031;21139048;21368896;21454616;21559821;21911414;21988832;22683265;22782902;22843554;22864571;23212337;23303631;23541952;23770605;23921907;3031469;8125298;8521391;8755496;8962078;9045686;9153302;9208847;9228018;9289491;9325248;9337844;9792675 843 B4E3T5;Q92851 AB038979;ABBA01062536;AC007283;AF111344;AF111345;AI696103;AJ487678;AJ487679;AK225475;AK304859;AK310746;AMYH02005549;AY690601;BC042844;BX089180;CH471063;DA456072;EF050529;NG_007265;NM_001206524;NM_001206542;NM_001230;NM_032974;NM_032976;NM_032977;U60519;U86214;XM_005246907;XM_005246909;XM_005246910;XM_005246911;XM_006712796 AAB46730;AAC50644;AAD28402;AAD28403;AAH42844;AAU00989;AAY24291;ABJ53426;ADZ15622;BAB32553;BAB32554;BAG65597;CAD32371;CAD32372;EAW70247;EAW70248;EAW70249;EAW70250;EAW70251;NP_001193453;NP_001193471;NP_001221;NP_116756;NP_116758;NP_116759;Q92851;XP_005246964;XP_005246966;XP_005246967;XP_005246968;XP_006712859 Hs.5353 1730123;1793552;1795470;2127874;2150571;2179208 CASP10_482;D2S188E;PMC230316P3;RH68751;RH70685;RH77986 ALPS2;FLICE2;MCH4 CASP-10;FADD-like ICE2;FAS-associated death domain protein interleukin-1B-converting enzyme 2;ICE-like apoptotic protease 4;OTTHUMP00000163712;OTTHUMP00000163713;OTTHUMP00000163714;OTTHUMP00000206550;OTTHUMP00000206551;apoptotic protease MCH-4;caspase 10, apoptosis-related cysteine protease;caspase-10;interleukin-1B-converting enzyme 2 APPROVED protein-coding ENSG00000003400 HGNC:1500 03458 137215;601762;603909;605027;613659 REVIEWED 1604850 CASP2 caspase 2, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer's disease, Huntington's disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 7 7 7 q34-q35 137822267 137841650 + 142985308 143004789 + 143288215 143307696 + 4107076;4107080;6480464 12067235;17627033 10079193;10329646;10791974;10980123;11076957;11156409;11278287;11313953;11350957;11399776;11425872;11823470;11830582;11832478;11972030;12011445;12065594;12107826;12145703;12193789;12477715;12477932;12584573;12598307;12787561;12837286;12853948;12920126;14584591;14623896;14647455;14701762;14702039;14713958;14716300;15073321;15173176;15262979;15297885;15489334;15500642;15511269;15555560;15590671;15735701;15817479;15843892;15882978;16172118;16193064;16227610;16344560;16360037;16387548;16652156;16701639;16777994;16822901;16843824;17079734;17159900;17195089;17637755;17902043;17945178;18166155;18238895;18309324;18375382;18413747;18418048;18723680;18840686;19074885;19269008;19322201;19347032;19414860;19453261;19573080;19593445;19604093;19715609;19730412;19738422;19773279;19935698;20143425;20158568;20187765;20208132;20402676;20453000;20819778;20855536;20978129;21051981;21332795;21415862;21475302;21726810;21828056;21900206;21903589;21906983;21940110;21988832;22002103;22077397;22174370;22201672;22396545;22486813;22505724;22531785;22825847;23042294;23049853;23404198;23469978;23553630;23568547;24250222;24321384;24727569;7789948;8044845;8087842;8780721;8962078;8985253;9044836;9228018;9261102;9560245;9695946;9792675;9847074 835 C9JRR9;D3DXD8;D3DXD9;P42575 AB209640;ABBA01034134;AC073342;AF314174;AF314175;AK096245;AK291274;AK303265;AK303391;AMYH02016934;AY219042;BC002427;BG397039;BM998653;BQ447606;BT007240;BX537669;CB988674;CH236959;CH471198;CR541748;DA505883;DB455837;DB455840;NG_029248;NM_001224;NM_032982;NM_032983;U13021;U13022 AAA58959;AAA58960;AAH02427;AAK00299;AAK00300;AAO25653;AAP22346;AAP22347;AAP22348;AAP22349;AAP35904;ABM84746;BAD92877;BAF83963;BAG64347;BAG64447;CAG46548;EAW51860;EAW51862;EAW51863;EAW51864;EAW51867;EAW51869;EAW51870;NP_001215;NP_116764;NP_116765;P42575 Hs.368982 1647746;1662076;1697432;1767210;2113714;2150790;2174901;5014051;5037552 A004G42;CASP2;D8S2278;D8S2279;NEDD2;RH102216;RH12751;WI-19013;WI-9353 CASP-2;ICH-1L;ICH-1L/1S;ICH-1S;ICH1;NEDD-2;NEDD2;PPP1R57 ICH-1 protease;NEDD2 apoptosis regulatory;OTTHUMP00000025259;OTTHUMP00000202227;caspase-2;neural precursor cell expressed developmentally down-regulated protein 2;neural precursor cell expressed, developmentally down-regulated 2;protease ICH-1;protein phosphatase 1, regulatory subunit 57 APPROVED protein-coding ENSG00000106144 HGNC:1503 02800 600639 REVIEWED 1351672 CASP5 caspase 5, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] 11 11 11 q22.2-q22.3 102029166 102058058 - 104864967 104893895 - 104994240 105023168 - 1580863;5490211;6480464;6907045;8554872 20303873 10872455;10986288;11356849;11535131;12191486;12477932;12479849;12853457;12964016;15886296;16886895;16893518;17418785;17676485;18430458;19074885;19203830;19269008;19270026;19414860;19573080;19593445;19604093;19773279;20237496;20379614;20402676;20434535;20635389;20855536;21051981;21191419;21454616;21668377;21700414;21969293;22906436;7797592;8617266;9250871;9298992;9894612 838 C9JF14;H7C0P5;P51878 ABBA01039912;AK296660;AMYH02025506;AP001153;BC074994;BC113406;CH471065;DQ228672;DQ228673;DQ228674;DQ228675;DQ228676;DQ228677;DQ508420;DR005081;KF455484;NM_001136109;NM_001136110;NM_001136112;NM_004347;NR_024239;NR_036562;U28015;W60703;X94993;XM_006718925 AAA75172;AAH74994;AAI13407;ABB58698;ABB58699;ABB58700;ABB58701;ABB58702;ABB58703;ABF47103;BAG59257;CAA64450;EAW67054;EAW67055;EAW67056;NP_001129581;NP_001129582;NP_001129584;NP_004338;P51878;XP_006718988 Hs.213327 2111804;5121203 D11S4491;RH71301 CASP-5;ICE(rel)III;ICEREL-III;ICH-3;MGC141966 ICE(rel)-III;OTTHUMP00000045729;OTTHUMP00000209889;OTTHUMP00000231914;OTTHUMP00000231915;TY protease;caspase 5, apoptosis-related cysteine protease;caspase-5;protease ICH-3;protease TY APPROVED protein-coding ENSG00000137757 HGNC:1506 04048 602665 REVIEWED 1343162 CASP4 caspase 4, apoptosis-related cysteine peptidase This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 11 11 11 q22.2-q22.3 101977781 102003518 - 104813594 104839325 - 104942867 104968598 - 1580863;6480464 10069390;10329646;10477277;10872455;11927604;12096920;12477932;14702039;15123740;15146197;15326478;15489334;15500642;15975932;16920334;17353931;17942194;18029041;18056395;1919001;19269008;19414860;19573080;19705160;19773279;20237496;20402676;20453000;20514521;20816908;20855536;21282934;21317160;21479362;21781452;21832049;21984918;21988832;22246630;22733992;23661706;23684308;23845419;24879791;7743998;7797510;7797592;8125298;8962078;9233763;9250871;9539746;9694885;9792675;9875225 837 E9PMT1;H0YD34;P49662 A48861;ABBA01039912;AI128358;AK057094;AK225751;AK296081;AK304222;AL050391;AMYH02025506;AP001153;AP002004;BC008060;BC017839;CH471065;CN261701;EF636667;NM_001225;NM_033306;U25804;U28014;U28976;U28977;U28978;U28979;Z48810 AAA75171;AAA86890;AAC99850;AAC99851;AAC99852;AAC99853;AAC99854;AAH17839;ABM82909;ABM86099;ABR09278;BAG51861;BAG58837;BAG65094;CAA03154;CAA88750;CAB43686;EAW67050;EAW67051;EAW67052;EAW67053;NP_001216;NP_150649;P49662 Hs.138378 1339264;1669308;1737281;2143843 D11S1886;D11S3145;D11S4641;RH16178 CASP-4;ICE(rel)-II;ICE(rel)II;ICEREL-II;ICH-2;Mih1/TX;TX OTTHUMP00000231863;OTTHUMP00000231864;apoptotic cysteine protease Mih1/TX;caspase 4, apoptosis-related cysteine protease;caspase-4;protease ICH-2;protease TX APPROVED protein-coding ENSG00000196954 HGNC:1505 04047 602664 REVIEWED 5683667 CASP3P1 caspase 3, apoptosis-related cysteine peptidase pseudogene 1 1 1 1 p31.1 69415569 69416176 - 71126337 71126944 - 70660654 70661261 - 100131616 ABBA01074476;AL592104;AMYH02001245;NG_022722 pseudo HGNC:43596 INFERRED 731002 CASP3 caspase 3, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 6, 7 and 9, and the protein itself is processed by caspases 8, 9 and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] 4 4 4 q34 182877510 182899293 - 185548850 185570629 - 184627696 184649475 - 1300048;734693;734692;71121;2313963;2293092;2313998;2314002;2298948;2293304;2293322;2311448;2293309;2293311;2314187;2293308;2311466;2311451;2311440;2311467;2311446;2293314;2298949;2293330;2311432;2311441;2311436;2293093;2293315;2293306;2293307;2293316;2314390;2311430;2311442;2311444;2311447;2311455;2293324;4143170;4143196;4143171;5490154;6480464;6484113;6907045;7248688;7248687 10319819;11092762;11773055;12107344;15855338;16443785;16574987;16847061;17082813;17267327;17403612;17513560;17869439;18063461;18064531;18090083;18172282;18177927;18192848;18227733;18253123;18288275;18378144;18463494;18466900;18470603;18490106;18521931;18603371;18817839;18836575;18931364;19013511;19094082;19100955;19145435;19187597;19239902;19356238;19555701;19601660;19961901;22419868;22614867 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836 A8MVM1;C9JXR7;P42574 ABBA01070517;AC073932;AC079257;AJ413269;AK291337;AMYH02010651;AU127028;AU133051;AY219866;BC016926;BU753483;BX647609;CH471056;CQ786438;GM887507;HI179110;HI179112;NM_004346;NM_032991;U13737;U13738;U26943 AAA65015;AAA74929;AAB60355;AAH16926;AAO25654;ABM82469;ABM85657;BAF84026;CAC88866;CAG17895;CAI46084;CAV28500;CBX53863;CBX53864;EAX04673;EAX04674;EAX04675;EAX04676;NP_004337;NP_116786;P42574 Hs.141125 1688472;1715807;1725607;1775825;2121640;2172288;2175439;5492153 Casp3;D4S3281;G10724;G62021;RH119600;RH46486;SHGC-59603;SHGC-67239 CASP-3;CPP-32;CPP32;CPP32B;SCA-1;Yama OTTHUMP00000165052;OTTHUMP00000165053;OTTHUMP00000165054;OTTHUMP00000165055;OTTHUMP00000224230;OTTHUMP00000224231;PARP cleavage protease;SREBP cleavage activity 1;apopain;caspase 3, apoptosis-related cysteine protease;caspase-3;cysteine protease CPP32;procaspase3 APPROVED protein-coding ENSG00000164305 HGNC:1504 02799 600636 REVIEWED 1298347 CASP7 caspase 7, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 10 10 10 q25 109166297 109218022 + 115438921 115490668 + 113679162 113730909 + 734511;1580863;2314187;4143196;4143171;5684540;5684535;5684536;6480464;5684537;5684539;6907045;8548491 14679087;17082813;17596683;17646170;18785314;19168786;19239902;19961901;20702827;23470535 10069390;10082581;10103059;10200531;10318789;10469173;1056466;10564664;10675528;10731697;10791974;10862606;10998058;11016947;11024045;11058599;11084335;11170436;11257230;11257231;11257232;11278572;11356849;11359776;11387340;11399776;11420704;11423904;11425872;11448953;11514563;11535131;11555640;11752425;11755217;11802788;11815631;11829465;11832478;11859414;11875078;11904443;11943137;12107159;12145703;12181742;12477932;12586738;12665508;12804035;12824163;12888622;12951057;12970753;14512414;14583630;14584591;14623896;14713958;15033720;15200957;15254227;15489334;15500642;15507451;15511269;15580265;15650747;15735701;16123041;16213496;16339151;16344560;16385451;16498457;16918502;17023557;17094969;17167422;17283187;17337451;17504820;17532763;17697120;17880920;17978580;18072206;18086147;18459962;18521960;18596415;18708163;18723680;19022247;19052714;19058873;19141860;19219602;19241192;19258326;19269008;19323650;19414860;19531679;19573080;19581639;19604093;19605487;19617626;19655253;19655254;19692467;19698783;19738422;19759058;19770576;19773279;19782763;19826114;19913121;19996278;20159985;20379614;20402676;20404718;20453000;20468060;20566630;20567846;20628086;20661084;20800603;20819778;20855536;20950443;20959405;21044950;21142842;21157428;21484410;21555521;21936563;22184066;22441531;22451931;22548721;22561518;22584050;22863883;22986525;23000965;23049853;23074197;23190606;23383273;23650375;23728617;23732112;23765963;23979166;24040159;24407236;24434142;7983002;8125298;8521391;8567622;8576161;8631895;8755496;8780721;8812467;8889548;8962078;9070923;9219695;9228018;9230442;9298992;9323209;9325343;9337844;9384571;9525868;9535906;9593687;9607320;9671712;9850056;9875225;9894612;9922454;9990034 840 B4DWA2;P55210;Q5SVL1;Q5SVL2 AB451281;AB451413;ABBA01062991;ABBA01062992;AK223489;AK298964;AK300578;AK301437;AL592546;AL627395;AMYH02023841;AU130224;BC015799;BM976488;BP429646;BQ006259;BQ007179;BT006683;BX487250;BX647973;CH471066;DC332144;DC364916;DC384804;GM887522;NM_001227;NM_001267056;NM_001267057;NM_001267058;NM_033338;NM_033339;NM_033340;U37448;U37449;U39613;U40281;U67206;U67320;XM_006718016;XM_006718017;XM_006718018;XM_006718019 AAC50303;AAC50304;AAC50346;AAC50352;AAC51153;AAF21460;AAH15799;AAP35329;ABM84695;ABM92231;ACE86696;ACE87380;BAG61059;BAG62277;BAG62964;BAG70095;BAG70227;CAV28504;EAW49494;EAW49495;EAW49496;EAW49497;EAW49498;NP_001218;NP_001253985;NP_001253986;NP_001253987;NP_203124;NP_203125;NP_203126;P55210;XP_006718079;XP_006718080;XP_006718081;XP_006718082 Hs.9216 1736030;1768691;2109111;2171199 CASP7_81;D10S1306E;RH18047;SHGC-33054 CASP-7;CMH-1;ICE-LAP3;LICE2;MCH3 ICE-like apoptotic protease 3;Lice2 alpha/beta/gamma;OTTHUMP00000020510;OTTHUMP00000020511;OTTHUMP00000020512;OTTHUMP00000020513;OTTHUMP00000020514;apoptotic protease MCH-3;caspase 7 isoform delta;caspase 7, apoptosis-related cysteine protease;caspase-7 APPROVED protein-coding ENSG00000165806 HGNC:1508 03457 601761 REVIEWED 730846 CASP8 caspase 8, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008] 2 2 2 q33-q34 195852777 195904249 + 202098166 202152434 + 201233443 201287711 + 734696;734695;1580863;1300048;2311427;2311428;2311429;2311245;2311439;2311319;2311430;2311431;2314002;2314187;2311435;2311436;2315744;1624191;2317230;4143170;4143196;4143171;6480464;6484113;6907045;7240710;7248688;8554872;8699517 10197541;12353035;12753807;15036620;15590916;15976052;16443785;17082813;17403612;17563067;17880769;18090083;18483392;18521931;18570579;19194987;19239902;19540304;19843670;19961901;22419868 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4;22860893;22864571;22922291;22949938;22971934;23071110;23074197;23081800;23096115;23142077;23185580;23230268;23244104;23255602;23289213;23306557;23313206;23364796;23418437;23434145;23618862;23659359;23751956;23770605;23844036;23867815;23921907;23972990;23982205;24021263;24097299;24121507;24127565;24149212;24209510;24287696;24390342;24391214;24398693;24412083;24438025;24442637;24457433;24503077;24530529;24535941;24577083;24819879;24980434;25059065;3031469;7983002;8521391;8681376;8681377;8755496;8962078;9006941;9027312;9184224;9208847;9219695;9228018;9271594;9289491;9325248;9326610;9334338;9337844;9380701;9535906;9539746;9560245;9575181;9624166;9632733;9721089;9727491;9727492;9763668;9774341;9792675;9804161;9875225;9878167;9931493;9971775;9990034 841 C9JB29;E7EQ01;E7EQ06;E7ETB7;E7EVN1;F8WF39;H7BZM4;H7C0E2;Q14790 AA312258;AB038985;AB451282;AB451414;ABBA01062536;ABBA01062537;ABBA01062538;ABBA01062539;AC007256;AC007283;AF009620;AF102139;AF102140;AF102141;AF102142;AF102143;AF102144;AF102145;AF102146;AF207672;AF380342;AF422926;AF422927;AF422928;AF422929;AI351872;AK310630;AL600571;AL601594;AL702116;AMYH02005549;AX134419;AY429525;BC010390;BC017031;BC028223;BC068050;BG236020;BG498355;BX395849;CB990598;CH471063;DA420056;DB157537;DQ355026;EU168332;EU670044;HA637638;HI179126;HI179128;HI179130;HI179132;JN657192;NG_007497;NM_001080124;NM_001080125;NM_001228;NM_033355;NM_033356;NM_033358;NR_111983;U58143;U60520;X98172;X98173;X98174;X98175;X98176;X98177;X98178;XM_005246885;XM_005246886;XM_005246887;XM_005246888;XM_005246889;XM_005246890;XM_005246891;XM_005246892;XM_005246893;XM_005246894;XM_005246895;XM_005246896;XM_006712789;XM_006712790;XM_006712791;XM_006712792;XM_006712793;XR_241323 AAB70913;AAC50602;AAC50645;AAD24962;AAG10682;AAH68050;AAK57437;AAL87629;AAL87630;AAL87631;AAL87632;AAY24225;ABC67468;ABX09989;ACF93415;AFI38959;BAB32555;BAG70096;BAG70228;CAA66853;CAA66854;CAA66855;CAA66856;CAA66857;CAA66858;CAA66859;CAC39526;CAZ39541;CBX53871;CBX53872;CBX53873;CBX53874;EAW70253;EAW70254;EAW70258;EAW70262;NP_001073593;NP_001073594;NP_001219;NP_203519;NP_203520;NP_203522;Q14790;XP_005246942;XP_005246943;XP_005246944;XP_005246945;XP_005246946;XP_005246947;XP_005246948;XP_005246949;XP_005246950;XP_005246951;XP_005246952;XP_005246953;XP_006712852;XP_006712853;XP_006712854;XP_006712855;XP_006712856 Hs.599762 1646319;1650227;1651195;1662030;1674567;1777685;1793550;1852911;2154216;5014051;5022651;5117897 A008P44;D11S2921;D2S1853;D8S2278;G29514;GDB:631813;PMC230316P2;RH15884;RH36454;RH70497;RH70951;RH78960 ALPS2B;CAP4;Casp-8;FLJ17672;MACH;MCH5;MGC78473 FADD-homologous ICE/CED-3-like protease;FADD-like ICE;FLICE;ICE-like apoptotic protease 5;MACH-alpha-1/2/3 protein;MACH-beta-1/2/3/4 protein;MORT1-associated ced-3 homolog;OTTHUMP00000163717;OTTHUMP00000163720;OTTHUMP00000165062;OTTHUMP00000165063;OTTHUMP00000165064;OTTHUMP00000206552;OTTHUMP00000206557;OTTHUMP00000206581;apoptotic cysteine protease;apoptotic protease Mch-5;caspase 8, apoptosis-related cysteine protease;caspase-8 APPROVED protein-coding ENSG00000064012 HGNC:1509 03459 114480;114550;211980;601763;607271 REVIEWED 732006 CASP6 caspase 6, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in two transcript variants that encode different isoforms. [provided by RefSeq, Jul 2008] 4 4 4 q25 107903448 107918292 - 110609785 110629814 - 109688629 109709224 - 1300048;2301331;1582381;2301336;2301314;2301320;2301337;2301338;2301316;2301332;2301339;6480464;6907045 10574243;11086028;11311984;11406539;15010362;15210759;15507514;15662549;15749343;17283169 10069390;10103059;10205159;10409650;10432301;10438520;10469173;10481058;10655504;10734073;10770929;11016947;11098060;11246070;11262188;11331782;11356849;11387340;11423904;11438643;11463840;11514563;11802788;11832478;11859414;11901153;11953316;12052891;12089322;12145703;12232792;12477932;12888622;14713958;15103018;15200957;15273717;15280469;15321985;15356202;15489334;15500642;15511269;15654952;15735701;16123779;16135563;16169070;16341674;16518869;16948818;16977583;17167422;17337451;17392160;18029348;18155731;18408014;18497562;18723680;18762957;18820706;18946722;19022247;19052714;19219602;19269008;19414860;19573080;19694615;19773279;19897582;19915487;20097875;20332099;20402676;20427671;20437871;20606168;20661084;20682790;20702410;20801175;20855536;20890311;21098228;21111746;21139048;21317160;21621544;21900206;21906983;21918813;21936563;21963094;21988832;22094081;22433863;22505724;22683611;22858542;22891250;23074197;23402898;24058506;24265764;24419379;24727569;24816145;7796396;7983002;8710882;8780721;8812467;8900201;8962078;8978814;9219695;9228018;9298992;9337844;9463409;9593687;9857079;9933635;9990034 839 D6RBM3;D6RHU3;P55212 ABBA01063783;AC004067;AMYH02009898;AY254046;BC000305;BC004460;BM837197;CH471057;NG_029187;NM_001226;NM_032992;U20536;U20537;XM_005263271 AAC50168;AAC50169;AAH00305;AAH04460;AAO63494;ABM85515;ABW03757;EAX06244;EAX06245;NP_001217;NP_116787;P55212;XP_005263328 Hs.654616 1645970;1698608;1769507;1791093;1791095;1791097;1795472;2116221;2170477;5015961;5022322 CASP6_488;D11S2560;D15S1477;D4S262;RH102859;SHGC-19815;SHGC-19828;SHGC-51589;csnpcasp6-pcr2-1;csnpcasp6-pcr5-1;csnpcasp6-pcr6-1 CASP-6;MCH2 OTTHUMP00000162742;OTTHUMP00000162743;apoptotic protease MCH-2;caspase 6;caspase 6, apoptosis-related cysteine protease;caspase-6 APPROVED protein-coding ENSG00000138794 HGNC:1507 03321 601532 REVIEWED 737298 CASQ2 calsequestrin 2 (cardiac muscle) The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008] 1 1 1 p13.1 114471445 114540231 - 116242624 116311426 - 115700003 115768805 - 734697;1580863;6480464;6771208;6771209;6771235;7240710;7204686;8554872;8699517 11704930;1531837;20356453;21441944;21565973 10748065;10825439;11069905;11113462;12386154;12477932;12732448;12858557;14571276;14638677;15050380;15485681;15489334;15698842;16601229;16908766;17045261;17531962;17569730;17607358;17655857;17881003;17938175;18399795;18469084;18543230;18669926;19357236;19376574;19398665;19403607;19709828;1985907;20039900;20301466;20302875;21063088;21265816;21416293;21618644;21685173;21872879;22050625;22123818;22421959;22481011;22650415;23595086;24127619;7721813;8125298;8406504;8889548;9287354;9795116 845 B4DEF0;O14958 ABBA01068477;ABBA01068478;AK129831;AK129891;AK225959;AK293595;AK295502;AK313041;AL449264;AL450389;AMYH02001789;AMYH02001790;BC022288;BM679349;CH471122;D55655;DC423064;NG_008802;NM_001232 AAH22288;ABM84145;ABM87547;BAA23494;BAG35873;BAG57061;BAG58422;EAW56635;EAW56636;NP_001223;O14958 Hs.57975 1781786;2137533 AL009800;SHGC-155959 FLJ26321;FLJ93514;PDIB2 OTTHUMP00000013749;calsequestrin 2;calsequestrin 2, fast-twitch, cardiac muscle;calsequestrin, cardiac muscle isoform;calsequestrin-2 APPROVED protein-coding ENSG00000118729 HGNC:1513 00256 114251;611938 REVIEWED 1321668 CASS4 Cas scaffolding protein family member 4 ENCODES a protein that exhibits phosphorelay sensor kinase activity (inferred); INVOLVED IN cell adhesion (inferred); phosphorelay signal transduction system (inferred); signal transduction by phosphorylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); chloroprene (ortholog); titanium dioxide (ortholog) 20 20 20 q13.31 51727599 51774824 + 54987168 55034396 + 56411555 56459340 + 6480464;8554872 11780052;12477932;14702039;15489334;16344560;18256281;19380743;23001926;24162737 57091 B4DII4;Q9NQ75 ABBA01052892;ABBA01052893;AJ276678;AK027760;AK295613;AK308057;AK314653;AL121914;AMYH02037339;BC027951;BX280195;CH471077;DA584687;KF456952;NM_001164114;NM_001164115;NM_001164116;NM_020356;XM_006723831 AAH27951;BAB55351;BAG58496;CAC00655;EAW75541;EAW75542;EAW75543;EAW75544;EAW75545;EAW75546;EAW75547;NP_001157586;NP_001157587;NP_001157588;NP_065089;Q9NQ75;XP_006723894 Hs.473144 1709174;2133205;2135529;5024761 D20S775;D20S777;RH36905;SHGC-85749 C20orf32;CAS4;HEFL;HEPL HEF-like protein;HEF1-EFS-p130Cas-like protein;OTTHUMP00000031328;OTTHUMP00000031329 protein-coding ENSG00000087589 HGNC:15878 09842 VALIDATED 1344349 CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013] 1 1 1 q21 133229049 133240436 + 160160285 160171676 + 160190495 160201886 + 1580863;2314136;2314137;2314133;2314134;2314135;6480464;7204686 11976916;15561962;15561963;17681849;18269685;20356453 12477932;15489334;16344560;17009399;18452871;20682687;22060633;22337878;2321095;23460944;23792176;24127619;24887214;7599203;7666833;7945294;8406504;8660374;9125222 844 C9JAC8;P31415 AA197256;ABBA01016614;AI141895;AK300713;AK313250;AL121987;AL139011;AMYH02002023;BC022289;BF574316;BX500008;CH471121;DA766051;NM_001231;S73775 AAB32063;AAH22289;ABM82911;ABM86101;BAG36060;BAG62390;EAW52736;NP_001222;P31415 Hs.632476 1690448;1778365;1852760 RH17912;RH64698;RH79623 CASQ;PDIB1 OTTHUMP00000029889;calmitin;calmitine;calsequestrin, skeletal muscle isoform;calsequestrin-1 APPROVED protein-coding ENSG00000143318 HGNC:1512 15915 114250 REVIEWED 737362 CAST calpastatin The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010] 5 5 5 q15 91882129 91994809 + 95997741 96110387 + 96662037 96774683 + 1580863;1626249;5509809;5509819;5509812;5509823;5509799;5509801;5509800;5509813;5509814;5509817;5509810;5509822;5509818;5509821;5683871;5683619;6480464;5683320;5683321;5683620;5683622;5683623;5683872;5683869 10318818;10722997;11035539;11264179;12367559;12482022;15307896;15540513;15563579;15654835;15863237;16236382;16314468;16467455;16871587;17359359;17429681;17853947;19020018;20116408;20127884;20595388;7706496;9256029 10600505;10731697;10822276;10859257;10942721;11076863;11230166;11849768;11978196;12477932;12482888;12591934;12684003;12923177;14559243;14612448;14685690;14702039;14992597;15014085;15044459;15101818;15302935;15489334;15489336;1569094;15820218;15950654;16344560;16381901;17081983;17137217;17474147;17950697;18165173;18195134;18340456;18498295;18519038;18537264;18544539;18724972;18793761;18809371;19103264;19322201;19365859;19581569;19756344;19913121;1995645;20379614;20628086;20679491;20953190;21263028;21424381;21531560;21839844;21906983;21937422;21983488;22046434;22206846;22286212;22288381;22572592;2265559;22863883;22939629;23140395;23449483;23684705;23707532;23773963;23951044;2407243;24462690;24816145;2548504;2553724;2559735;2577276;2849943;7638179;7710300;7951045;7998969;8340353;8889548;9213221;9705209;9873017 831 B7Z468;B7Z574;B7Z6N0;D6RAA8;D6RBR1;D6RBZ8;D6RC54;D6RGF7;E7EN75;E7EQ12;E7EQA0;E7EQK6;E7ES10;E7ESM9;E7EVY3;E9PCH5;E9PDE4;E9PSG1;F8W7E0;H0Y7F0;H0Y944;H0Y9H6;H0YA91;H0YD33;P20810;Q59HE3;Q86YM9 AB026049;AB208816;ABBA01069229;ABBA01069230;ABBA01069231;AC008906;AC020900;AF095891;AF327443;AK098137;AK292289;AK292356;AK296919;AK297879;AK298541;AK299384;AK299402;AK300624;AK302206;AK303836;AK303900;AK311585;AK311598;AK314290;AK315146;AK315673;AL045308;AL832174;AL832349;AMYH02011831;AY189741;BC013579;BC016066;BC078149;BM676369;BQ420953;BQ893654;BQ940454;BT009783;BX648397;CA775469;CD702474;CH471084;D16217;D50827;DB033043;DB450697;DC424542;DR004967;HY159082;KC877037;M28227;M28228;M28229;M28230;M33328;M86258;NG_029490;NM_001042440;NM_001190442;NM_001284212;NM_001284213;NM_173060;NR_104285;S73329;U26724;U31345;U31346;U38525;U58996;U83601;XM_006714696;XM_006714697;XM_006714698;XM_006714699;XM_006714700;XM_006714701;XM_006714702;XM_006714703;XM_006714704;XM_006714705;XM_006714706;XM_006714707;XM_006714708;XM_006714709;XM_006714710;XM_006714711;XM_006714712;XM_006714713;XM_006714714;XM_006714715 AAA52066;AAA52296;AAA80684;AAB32311;AAB41237;AAB59398;AAB60371;AAB60372;AAC14353;AAC50136;AAD09102;AAG48151;AAH13579;AAH16066;AAH78149;AAO34397;AAP88785;ABM82405;ABM85594;BAA03747;BAA09438;BAA76923;BAD92053;BAF84978;BAF85045;BAG37594;BAG38038;BAH12454;BAH12685;BAH12810;BAH13022;BAH13025;BAH13316;BAH13650;BAH14064;BAH14077;CAL38303;CAL38312;EAW96064;EAW96065;EAW96066;EAW96067;EAW96068;EAW96069;EAW96070;EAW96071;EAW96072;EAW96073;EAW96074;EAW96075;EAW96076;NP_001035905;NP_001177371;NP_001271141;NP_001271142;NP_775083;P20810;XP_006714759;XP_006714760;XP_006714761;XP_006714762;XP_006714763;XP_006714764;XP_006714765;XP_006714766;XP_006714767;XP_006714768;XP_006714769;XP_006714770;XP_006714771;XP_006714772;XP_006714773;XP_006714774;XP_006714775;XP_006714776;XP_006714777;XP_006714778 Hs.436186 1652811;1661367;1666189;1777714;1794170;1854165;2106439;2117015;2140895;2151084;2151157;2162460;2182273;2187627;5095827;5106759;5121009 A009U12;ARTS-1__4376;D5S1571E;D5S2413;D5S2629;D5S2667;PMC310823P10;RH36372;RH46487;RH47549;RH69827;RH70772;RH77935;RH79021;STS-D29461;WI-18741;WI-7819 BS-17;MGC9402 OTTHUMP00000158519;OTTHUMP00000158520;OTTHUMP00000179127;OTTHUMP00000222728;OTTHUMP00000222729;OTTHUMP00000222731;OTTHUMP00000222732;OTTHUMP00000222733;OTTHUMP00000222734;OTTHUMP00000222735;OTTHUMP00000222737;OTTHUMP00000222738;OTTHUMP00000222739;OTTHUMP00000222740;OTTHUMP00000222748;OTTHUMP00000222806;calpain inhibitor;sperm BS-17 component APPROVED protein-coding ENSG00000153113 HGNC:1515 00233 114090 REVIEWED 1343051 CATHL1 cathelicidin 1 (cyclic dodecapeptide, bactenin 1) 7589491 848 HGNC:1517 69147 CASP9 caspase 9, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 1 p36.21 14301661 14333662 - 15817896 15851407 - 15489723 15524912 - 1580863;1300048;2313963;2313998;2314002;2314187;2311432;2311244;2311320;2311322;2311466;2315928;2315929;2311430;2311245;2311436;2311319;2311246;2311321;2315933;2314390;2315930;2290492;6480464;6484113;6907045;8554872 14617576;15246841;15805231;15976052;16038259;16443785;16847061;17011986;17082813;17297389;17869439;17880769;18090083;18369072;18521931;18817839;18931364;19145435;19252927;19412632;20012353 10070954;10085063;10187815;10206961;10329646;10376594;10384055;10438581;10469173;1067155;10671558;10708425;11024045;11069302;11076957;11084335;11113115;11230124;11242052;11248093;11350957;11387340;11390657;11393657;11408476;11423904;11462036;11514563;11734640;11801602;11801603;11803376;11832478;11870543;11905052;11919192;11927604;11948397;12021264;12055227;12095993;12096338;12145703;12147322;12372609;12393263;12393884;12404116;12477932;12566444;12586738;12620238;12620239;12637514;12732844;12749848;12782307;12792650;12804035;12914932;12954616;14512414;14523016;14566819;14634335;14684629;14701803;14747474;14982875;14991812;14993223;15200957;15214043;15220451;15254227;15262985;15273730;15280366;15300255;15473998;15485395;15485396;15489334;15500642;15507451;15578977;15629764;15657060;15657349;15674327;15703181;15725353;15735701;15749826;15767427;15811855;15829969;15935070;16120388;16181301;16189514;16242324;16260615;16287866;16300929;16322207;16337360;16339151;16344560;16480911;16497673;16505307;16505493;16511342;16520893;16687442;16689829;16701639;16710414;16716256;16780893;16895904;16936772;16979168;17030903;17071630;17079734;17140287;17167422;17179183;17207965;17285546;17291493;17299206;17379327;17409234;17437405;17466630;17534194;17626072;17653867;17893147;17899380;17967742;18022362;18054197;18083711;18086147;18202770;18297401;18309324;18381704;18415681;18632964;18676680;18723680;18813792;18814044;18840411;19013323;19016842;19052714;19058789;19074885;19081073;19141860;19153467;19159073;19170196;19183163;19219602;19238172;19269008;19275583;19275584;19275586;19275587;19359048;19414860;19458171;19465923;19493480;19550122;19573080;19625176;19626422;19655415;19674438;19692168;19692467;19698783;19724860;19741144;19758996;19770581;19773279;19789190;19807657;19826114;19895210;19906200;19913121;20012528;20013803;20022954;20042134;20060927;20071584;20227371;20227384;20340172;20357690;20379614;20402676;20404718;20453000;20490276;20628086;20644561;20650551;20661084;20667824;20800603;20804486;20855536;20887385;20959405;20978129;21045158;21048031;21091209;21117896;21142842;21178828;21266831;21282934;21284734;21297999;21382445;21396853;21461653;21483669;21538054;21555338;21565459;21612408;21622622;21644232;21659556;21724551;21757755;21785112;21827945;21868008;21869827;21944661;21957492;21988832;22086301;22120515;22191568;22219640;22306364;22339913;22552851;22573662;22616010;22629415;22679284;22683311;22926545;22944165;22974165;22981751;23038270;23074197;23202514;23203690;23303631;23359247;23364796;23383273;23396972;23424205;23430060;23443079;23479167;23539542;23566959;23572523;23615977;23637769;23645041;23652278;23678002;23725396;23732112;23867824;24121507;24161344;24346702;24362031;24405603;24424093;24427328;24530529;24592539;25059065;25092867;7983002;8663294;8900201;8962078;9323209;9337844;9390557;9488720;9539746;9545235;9651578;9671712;9812896;9837928;9878060;9890966;9922454;9990849 842 F8VVS7;F8VWA5;H0Y3S8;H0Y6Y2;P55211;Q59GG2;Q5JRU2;Q5JRU8 AA534393;AB015653;AB019205;AB020979;AB209147;ABBA01004708;AF093130;AF110376;AJ781267;AK292080;AK292111;AK303743;AL512883;AMYH02000361;AMYH02000362;AY214168;AY732490;BC002452;BC006463;BT006911;CH471167;DA078665;HY027003;NG_029188;NM_001229;NM_001278054;NM_032996;NR_102732;NR_102733;U56390;U60521;XM_005246014;XR_426635 AAC50640;AAC50776;AAD12248;AAD13615;AAH02452;AAH06463;AAO21133;AAP35557;AAV33129;ABM82619;ADQ31742;BAA78780;BAA82697;BAA87905;BAD92384;BAF84769;BAF84800;BAG64715;CAH03131;EAW51730;EAW51731;NP_001220;NP_001264983;NP_127463;P55211;XP_005246071 Hs.329502 1788286;1788288;1788290;1788292;1788294;1789807;1789809;1795474;1848686;1848918;2124737;2130918;2172257;5016781 CASP9_492;G67485;G67486;G67487;G67488;G67489;RH67819;SHGC-36104;SHGC-52575;SHGC-67307;SHGC-7118;SHGC-74255;csnpcasp9-pcr4-1;csnpcasp9-pcr6-1 APAF-3;APAF3;CASP-9;CASPASE-9c;ICE-LAP6;MCH6;PPP1R56 ICE-like apoptotic protease 6;OTTHUMP00000002322;OTTHUMP00000002323;OTTHUMP00000002324;OTTHUMP00000242817;OTTHUMP00000242819;apoptotic protease MCH-6;apoptotic protease activating factor 3;apoptotic protease-activating factor 3;caspase 9;caspase 9, apoptosis-related cysteine protease;caspase-9;protein phosphatase 1, regulatory subunit 56 APPROVED protein-coding ENSG00000132906 HGNC:1511 03756 602234 REVIEWED 1347815 CATHL2 cathelicidin 2 (bactenin 5) 7589491 850 HGNC:1519 1352997 CATHL4 cathelicidin 4 (indolicidin) 7589491 852 HGNC:1521 1314005 CASP8AP2 caspase 8 associated protein 2 This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008] 6 6 6 q15 90958564 91004713 + 90539619 90584155 + 89829900 89874436 + 6480464;7421504;8554872 21784126 10235259;10537104;10718198;11340079;12168954;12477726;12477932;14702039;15069192;15342556;15489334;15561718;15592525;15698540;15840729;16627760;17003125;17003126;17245429;17370265;17696945;18038312;18408764;18677100;19406988;19414860;19471022;19546234;19573080;19593445;19615980;19773279;19854135;20109966;20237496;20697732;20801175;20936779;21139048;21245389;21338522;21693764;21696825;21725362;21906983;21988832;22216762;22427918;22595458;23071092;23086935;23673342;23953914 9994 Q9UKL3 AB037736;ABBA01040539;ABBA01040540;ABBA01040541;ABBA01040542;ABBA01040543;AF154415;AF164678;AF165161;AJ420582;AK002070;AL353692;AMYH02014090;AMYH02014091;AMYH02014092;AMYH02014093;BC012574;BC027850;BC029386;BC042577;BC056685;BC132828;BC132830;BC150274;BP192859;BP363682;CH471051;NM_001137667;NM_001137668;NM_012115 AAD45157;AAD45537;AAF03367;AAH42577;AAH56685;AAI32829;AAI32831;AAI50275;BAA92067;BAA92553;EAW48540;EAW48541;EAW48542;EAW48543;EAW48544;NP_001131139;NP_001131140;NP_036247;Q9UKL3 Hs.558218 1647315;2107911;2137787;2154316 CASP8AP2_7960;RH47433;SHGC-52865;STS-H50583 CED-4;FLASH;FLJ11208;KIAA1315;RIP25 CASP8 associated protein 2;CASP8-associated protein 2;CASP8AP2 {ECO:0000312|HGNC:HGNC:1510};FLASH homolog RIP25;FLICE associated huge;FLICE-associated huge protein;OTTHUMP00000016860;human FLASH APPROVED protein-coding ENSG00000118412 HGNC:1510 06048 606880 REVIEWED 1345684 CATHL5 cathelicidin 5 7589491 853 HGNC:1522 1344569 CATHL6 cathelicidin 6 7589491 854 HGNC:1523 1606535 CASZ1 castor zinc finger 1 The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 1 1 1 p36.22 9808055 9967917 - 10696661 10856733 - 10636604 10796676 - 6480464;8554872 12477932;14702039;15489334;16322216;16631614;16710414;17044048;17727731;17940511;18029348;18805397;19430479;20479155;21252912;21490919;21572416;21832049;22068036;22262398;22331471;23793025;23892435;24250222;24457600;8125298 54897 B3KRV8;K7EQC6;Q86V15 AA449398;ABBA01035608;ABBA01035609;ABBA01035610;ABBA01035611;ABBA01035612;ABBA01035613;ABBA01035614;AK000328;AK022285;AK092289;AK130996;AK225324;AK293839;AK311700;AL031984;AL139423;AL157717;AMYH02000273;AMYH02000274;AMYH02000275;AMYH02000276;AMYH02000277;AMYH02000278;BC004410;BC051883;CH471130;DQ217660;DQ372703;KF495869;NM_001079843;NM_017766;R85589;XM_005263479;XM_006710712 AAH04410;AAH51883;ABB29845;ABD14411;ABZ92343;BAA91089;BAC85474;BAG52520;BAH11609;EAW71662;EAW71663;NP_001073312;NP_060236;Q86V15;XP_005263536;XP_006710775 Hs.439894 1335260;1670168;1693780;1732922;1733052;1748407;1765175;1765405;1849199;2171498 AL009635;D1S1327;D1S1401;D1S2213;D1S3153;D4Ertd432e;SHGC-148685;SHGC-148892;SHGC-31243;SHGC-58917 CAS11;CST;FLJ12223;FLJ20321;RP4-734G22.2;SRG;ZNF693;dJ734G22.1 OTTHUMP00000002017;OTTHUMP00000002018;castor homolog 1, zinc finger;castor-related protein;putative survival-related protein;survival related;survival-related;zinc finger protein 693;zinc finger protein castor homolog 1 APPROVED protein-coding ENSG00000130940 HGNC:26002 07897 609895 REVIEWED 1351205 CATHL3 cathelicidin 3 (bactenin 7) 7589491 851 HGNC:1520 10291 CASR calcium-sensing receptor The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008] 3 3 3 q13 120312793 120414980 + 121902530 122005350 + 122183683 122286503 + 734699;1600616;1580863;1598940;734698;6480464;6484113;7207059;7205499;7205502;7205505;7205436;7205447;7205497;7207227;7205669;7205434;7205446;7205664;7205672;7207060;7204717;7205442;7205445;7205454;7205455;7205468;7205656;7205666;7205440;7205678;7205444;7205661;7205675;7205677;7205503;7205448;7240710;7205698;8554872;8699517 11044218;12239094;12239240;12241879;12671052;15347804;15637145;17537980;18852253;19188910;19640368;19887834;20067903;20501971;20602573;20705733;20846291;21034470;21183554;21667241;21766206;21966463;22098336;22137362;22137721;22192592;22527939;22730443;22844268;7493018;7726161;7874174;7916660;8813042;9253359 10405337;10487661;11013439;11095989;11108243;11161843;11248745;11390379;11390380;11589681;11668634;11762699;11863123;11889154;11889203;11907035;11979955;11984699;12018449;12036954;12040821;12050233;12052452;12095982;12150336;12356761;12399473;12409307;12459170;12469911;12477932;12517779;12544508;12574201;12605346;12656660;12700051;12773131;12783889;12890593;12899245;12914574;14508624;14660633;14713274;14729680;14976203;14985373;15201280;15219850;15472173;15489334;15501733;15531522;15551332;15572418;15579475;15591042;15598778;15613438;15657061;15684428;15718278;15781005;15805541;15837785;15864123;15879434;15888439;15960151;16109841;16117875;16147994;16218047;16278666;16472767;16497624;16509534;16513638;16596260;16598859;16616098;16622736;16642557;16735501;16738533;16740430;16754659;16854379;16938272;17018660;17046587;17054460;17062884;17097611;17110864;17122384;17124506;17132283;17138967;17284438;17309124;17310098;17320849;17331389;17332735;17372216;17374704;17374709;17426287;17463182;17473068;17478419;17482347;17513419;17555508;17591780;17623778;17698911;17853337;17932932;17962359;17974568;17979873;18065418;18240029;18296474;18322048;18328986;18348986;18393231;18410554;18443236;18497443;18525093;18577758;18621740;18622738;18676680;18680227;18703641;18712808;18751724;18756473;18796518;18843020;18938753;18980667;19011996;19035514;19038444;19058262;19066294;19073830;19088423;19133942;19151705;19157541;19170196;19179454;19237714;19257819;19285978;19328421;19350667;19389809;19397786;19423559;19432691;19453261;19471101;19474519;19580466;19621386;19625176;19690432;19692168;19695239;19706842;19716891;19789209;19839774;19912241;19913121;19915295;20034274;20130845;20164288;20237496;20361938;20364112;20421307;20424473;20457124;20558521;20558539;20595056;20628086;20631026;20634891;20648625;20654748;20661308;20668040;20697181;20798521;20826781;21048031;21082232;21084311;21130730;21187282;21209619;21240254;21317879;21340433;21369680;21393549;21414629;21441391;21532883;21566074;21645025;21843504;21965686;22010828;22024717;22094462;22107799;22144504;22158862;22187299;22192860;22210744;22278364;22315359;22403735;22422767;22424352;22449852;22577108;22789683;22798347;23009664;23103379;23108190;23125333;23169696;23228129;23247143;23269116;23271661;23287098;23300272;23334987;23372019;23533647;23552627;23555732;23569134;23639611;23674327;23740560;23756480;23764372;23817301;23856265;23860708;23864702;23913941;23917029;23946278;24013548;24068962;24098349;24101400;24120622;24133354;24217682;24238055;24244430;24264723;24297799;24336654;24454825;24455835;24517148;24584713;24624459;7673400;7677761;7759551;8597637;8613532;8675635;8702647;8733126;8756555;9168937;9217223;9298824;9677383;9694886;9722601;9852126;9920108;9920407 846 E7ENE0;P41180 ABBA01016471;AC068630;AC068754;AMYH02007536;AY259116;BC104999;BC112236;BP388878;CH471052;D50855;DQ088967;DQ327723;DQ327724;DQ327725;DQ327726;DQ327727;DQ327728;FJ360896;GM692549;JA910713;JB138639;NG_009058;NM_000388;NM_001178065;S68032;S68033;S68036;S79217;S81755;S83176;U20759;U20760;W56898;X81086;XM_005247836;XM_005247837;XM_006713789;XM_006713790 AAA86503;AAA86504;AAB29413;AAB29414;AAB29415;AAB35262;AAB46873;AAD14370;AAI05000;AAI12237;AAP20759;AAY68221;ABD04091;ABD04092;ABD04093;ABD04094;ABD04095;ABD04096;ACJ04039;BAA09453;CAA56990;CAV33589;CCV20013;CCW28005;EAW79490;EAW79491;EAW79492;NP_000379;NP_001171536;P41180;XP_005247893;XP_005247894;XP_006713852;XP_006713853 Hs.435615 1655751;1688126;1699736;1709796;1712741;1738925;1763765;1772873 D3S3193;RH103474;RH121068;RH99210;SHGC-147441;SHGC-35350;SHGC-77256;SHGC-84714 CAR;EIG8;FHH;FIH;GPRC2A;HHC;HHC1;HYPOC1;MGC138441;NSHPT;PCAR1 OTTHUMP00000215576;OTTHUMP00000215577;extracellular calcium-sensing receptor;parathyroid Ca(2+)-sensing receptor 1;parathyroid cell calcium-sensing receptor;parathyroid cell calcium-sensing receptor 1 APPROVED protein-coding ENSG00000036828 HGNC:1514 03122 145980;146200;239200;601198;601199;612899 REVIEWED 1343768 CATR1 CATR tumorigenicity conversion 1 7604004 856 Q13166 U25433 2114498 SHGC-35496 HGNC:1525 600676 8699371 CATIP-AS2 CATIP antisense RNA 2 q35 12107412 103689911 AC021016;CD672221;NR_125777 ncrna HGNC:41079 VALIDATED 1602043 CATIP ciliogenesis associated TTC17 interacting protein INVOLVED IN actin filament polymerization; cilium organization; FOUND IN actin cytoskeleton; cytoplasm; nucleus 2 2 2 q35 212988189 212999428 + 219221579 219233003 + 218356856 218368110 + 12477932;17207965;21832049;24475127 375307 Q7Z7H3 ABBA01023871;AC021016;AMYH02005791;BC052750;CH471063;NM_198559;XM_005246539;XM_005246540;XM_005246541 AAH52750;ADQ33106;EAW70610;NP_940961;Q7Z7H3;XP_005246596;XP_005246597;XP_005246598 Hs.645453 C2orf62;MGC50811 OTTHUMP00000164138;hypothetical protein LOC375307;uncharacterized protein C2orf62 APPROVED protein-coding ENSG00000158428 HGNC:25062 11846 PROVISIONAL 732740 CAT catalase This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009] 11 11 11 p13 34607658 34640793 + 34460472 34493607 + 34438925 34472060 + 1581147;1581148;1581149;1581150;1581151;1300375;1300048;1580863;2317410;5130200;5130770;5130747;5130748;5130873;5130750;4293707;5130744;5130751;5130752;5130864;5130871;5130856;5130199;5130201;5130202;5130768;5130869;5130749;5130891;5130753;5130760;5130761;5130771;5130772;5130773;5130860;5130875;5130876;5130878;5130745;5130755;5130756;5130867;6480464;6907045;7240710;7205651;7205676;7205647;7205662;7205663;7205665;6892947;7206853;7205671;8547516;9479744;8158049;9479054;9068921;9479742;9068947;9068923;9068909;9068932;9479155;9479159;9479160;9479189;8655636;9479152;9479169;9068474;9479170;9480233;8699517;9107626;9479048;9479149;9068934;9479063;9479066;9068881;9479167;8547520;9479745;9479162;9479168;9479150;9479064;9071200;9068908;9479158;9068475;9068882;9068907;9479068;1580833;9479165;9068931;9068893;9068906;9086875;9479056;9479166;9479747;9068479;9068905;9479069;9479188;9068874;9068926;9197256;9226881;9479151;7401215;9190810;9068911;9068919;9068922;8655661;9479743 10220857;10450379;10569634;10618301;10652196;11349462;11408722;11510883;11678164;12165738;12357295;12499913;12602965;12919155;14575298;14580687;14710000;15109710;15158621;15224238;15295623;15735318;15836852;16287205;16489259;16622028;16716903;16718367;16804020;16938375;17206395;17401513;1747937;17514533;17567781;17693525;17884035;17895592;18048809;18055782;18212468;18353692;18793622;18987486;19151196;19188683;19196076;19273541;19293779;19298531;19373626;19439879;19445928;19475625;19675389;19693467;19778612;19842849;19895324;19897513;19914224;19959187;20007347;20080081;20204550;20299359;20372767;20376213;20394549;20493834;20534640;20613769;20653246;20685819;20888583;21190578;21213399;21305585;21314438;21339256;21452373;21463646;21471094;21517247;21525431;21541033;21557843;21635889;21686137;21978706;22135646;22173336;22315314;22443450;22509733;22532869;22574884;22733796;22738420;2308162;23096233;23174057;23179931;23182154;23232760;23658840;23781296;23868633;23952340;23961996;24001414;24018880;24092995;25050522;9758419;9892499 10096042;10488055;10514471;10567208;10567403;10656833;10666617;10960480;11106583;11134921;11182520;11313354;11479740;11728823;11729237;11837458;11907164;12032677;12110367;12231449;12372460;12447480;12468545;12469627;12477932;12487379;12516882;12603857;12606529;12665801;12730222;12777400;12824748;12838770;12950161;13904105;14710363;14962975;14975589;15125229;15131792;15133753;15182856;15203188;15472150;15489334;1551654;15528999;15556604;15705913;15733034;15774926;15800961;15870505;15934434;15988600;16026777;16047490;16076760;16098030;16192345;16204228;16210410;16236267;16298864;16385446;16387755;16424062;16453382;16467073;16482509;16504657;16523188;16554811;16586065;16600249;16630078;16644728;16729966;16773213;16775184;16781659;16868544;16956821;17005595;17053817;17145829;17171548;17209132;17213227;17264407;17548672;17549373;17566139;17567676;17577741;17601350;17634480;17646900;17696155;17850515;17879952;17937824;18171680;18248894;18312938;18368408;18379038;18415766;18423055;18469277;18483329;18485895;18606005;18634817;18682580;18781797;18930811;18936436;18949620;18977241;19050255;19064360;19092850;19124506;19170196;19172437;19242068;19254215;19255063;19274593;19336475;19341793;19399816;19409565;19424819;19479899;19497990;19505917;19538885;19584075;19615732;19622717;19625176;19688952;19692168;19705749;19731237;19787204;19855359;19863340;19874574;19896490;19897742;19902075;19913121;19929244;19949914;20020532;20049130;20078877;20082261;20097730;20105444;20109103;20110814;20178365;20194081;20301895;20416077;20444272;20485444;20494887;20628086;20643115;20649881;20727719;20732340;20851292;20878976;20923778;21053180;21054578;21054877;21069346;21083503;21109199;21131394;21139048;21179281;21180245;21191398;21295602;21417634;21689642;21799178;21827848;21829032;21832049;21890473;21906983;21921984;21947853;21964540;21968610;21976670;21985133;21985966;21988832;22002062;22058000;22089180;22108257;22167619;22242279;22286031;22465269;22556393;22645453;2268310;22736749;22880027;22907559;22939629;22958044;22959522;22970972;22998821;23066387;23098659;23212700;23325794;23340375;23390647;23425094;23461612;23701472;23746122;23771908;23773345;23827365;23828460;23911407;24057136;24215654;24583396;24630930;24816145;24824229;2991908;3755525;3755526;3944256;6252821;6548744;7829101;8282800;8479912;9818873;9848047 847 P04040;Q8TAK2 ABBA01060865;AK291585;AK301577;AK310184;AK315350;AL035079;AMYH02024585;AMYH02024586;AW023382;AY028632;AY545477;BC027300;BC110398;BC112217;BC112219;BI551632;CA748580;CH471064;K02400;KF455362;L13609;NG_013339;NM_001752;X04076;X04085;X04096 AAA16651;AAB59522;AAH27300;AAI10399;AAI12218;AAI12220;AAK29181;AAS37679;ADR83058;BAF84274;BAG37746;BAG63070;CAA27717;CAA27721;EAW68170;EAW68171;NP_001743;P04040 Hs.502302 1664950;1671591;1675714;1691346;1718063;1741589;1742569;1748229;1748231;1748233;1748235;1748237;1760133;1795476;2131494;2143706;2146784;2151707 CAT_1268;D11S4340;G66721;G66722;G66723;G66724;G66725;GDB:181548;GDB:197896;RH122649;RH26629;RH27361;RH45987;RH78515;SHGC-132034;STS-H15685;STS-X04076;WI-19159 MGC138422;MGC138424 OTTHUMP00000041455 APPROVED protein-coding ENSG00000121691 HGNC:1516 00282 115500;614097 REVIEWED 8166687 CATIP-AS1 CATIP antisense RNA 1 2 2 q35 219231388 219231750 - 218366665 218367835 - 101928513 ABBA01023871;AC021016;AMYH02005791;BC038211;CB528646;HY001981;NR_110573;XR_241417;XR_249313;XR_249314;XR_251286;XR_251287;XR_425537;XR_425538;XR_431541;XR_431542 Hs.512386 ncrna ENSG00000225062 HGNC:41080 VALIDATED 1313883 CATSPER3 cation channel, sperm associated 3 ENCODES a protein that exhibits calcium activated cation channel activity (inferred); INVOLVED IN calcium ion transmembrane transport (inferred); multicellular organism reproduction (inferred); multicellular organismal development (inferred); FOUND IN CatSper complex (ortholog); INTERACTS WITH quercetin; pirinixic acid (ortholog) 5 5 5 q31.1 130427337 130471182 + 134303596 134347397 + 134967906 135011707 + 1580863;6480464 12477932;12646162;12932298;16382101;17227845;18391951;23263487;23333304;23568457;23666240 347732 Q86XQ3 ABBA01068730;AC004764;AC008406;AC008670;AF432876;AK292427;AMYH02012253;AW008956;AY156951;BC101692;BC110384;BI827754;BN000272;CH471062;NM_178019 AAI01693;AAI10385;AAO13012;AAO85416;BAF85116;CAE30476;EAW62228;NP_821138;Q86XQ3 Hs.631804 1778009;1780656;2126389 RH69300;SGC30875;bac51529T CACRC;MGC126741 OTTHUMP00000159408;ca(v)-like protein;calcium channel repeat containing 1;cation channel sperm-associated protein 3;one-repeat calcium channel-like protein;putative ion channel CatSper3 protein-coding ENSG00000152705 HGNC:20819 16447 609120 VALIDATED 1604493 CATSPERD catsper channel auxiliary subunit delta INVOLVED IN sperm capacitation (ortholog); sperm motility (ortholog); spermatogenesis (ortholog); FOUND IN CatSper complex (ortholog); sperm principal piece (ortholog); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 19 19 19 p13.3 5658055 5716734 + 5720688 5778742 + 5720677 5778731 + 6480464 12477932;20379614;21224844;24250222 257062 Q86XM0 ABBA01055991;ABBA01055992;ABBA01055993;ABBA01055994;ABBA01055995;ABBA01055996;ABBA01055997;ABBA01055998;AC011499;AK128088;AMYH02035332;AMYH02035333;AMYH02035334;AMYH02035335;AMYH02035336;AMYH02035337;BC031233;BC043005;CH471139;KF456483;KF456486;NM_152784 AAH31233;AAH43005;EAW69148;EAW69149;EAW69150;NP_689997;Q86XM0 Hs.631842 5014051;5015619;5016596;5016700;5022200;5037552 D11S3114;D8S2278;D8S2279;GDB:631802;L18426;RH79802 MGC39581;TMEM146 OTTHUMP00000183708;OTTHUMP00000183709;catSper-delta;catSperdelta;cation channel sperm-associated protein subunit delta;transmembrane protein 146 APPROVED protein-coding ENSG00000174898 HGNC:28598 17541 VALIDATED 1350186 CATSPER4 cation channel, sperm associated 4 ENCODES a protein that exhibits calcium activated cation channel activity (inferred); INVOLVED IN calcium ion transmembrane transport (inferred); cation transmembrane transport (inferred); multicellular organism reproduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN CatSper complex (ortholog); INTERACTS WITH arsenous acid; diarsenic trioxide; 4,4'-diaminodiphenylmethane (ortholog) 1 1 1 p35.3 24913482 24925399 + 26517119 26529033 + 26190628 26202542 + 6480464;8554872 12477932;12932298;16382101;17227845;19343178;20546612 378807 J3KNU1;Q7RTX7 ABBA01034899;AL355877;AMYH02000555;BC128138;BC128139;BC144663;BN000273;CH471059;NM_198137 AAI28139;AAI28140;CAE30475;EAX07839;NP_937770;Q7RTX7 Hs.123532 1672198;1685343;1732890;2107941;2163704;5019647 A006D29;CNKSR1_9077;D1S1309;G32327;RH92197;STS-R48282 MGC149223 OTTHUMP00000008765;OTTHUMP00000228342;OTTHUMP00000228343;cation channel sperm-associated protein 4;ion channel CatSper4 protein-coding ENSG00000188782 HGNC:23220 18607 609121 VALIDATED 1321252 CATSPER1 cation channel, sperm associated 1 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 63108580 63118345 - 65784223 65793988 - 66016752 66026517 - 1580863;6480464;7240710;8554872;8699517 11595929;11595941;11675491;12477932;14688170;16189514;16382101;16625279;16740636;18976756;19344877;20301780;20648059;21404705;21412338;21412339;22354039;23313885;23344959;23530196;23623968 117144 Q8NEC5 ABBA01024093;AF407333;AMYH02024968;AP006287;BC032950;BC036522;CH471076;NG_016285;NM_053054;XM_005273755;XR_428908;XR_428909 AAH32950;AAH36522;AAL14105;EAW74488;EAW74489;NP_444282;Q8NEC5;XP_005273812 Hs.189105 MGC33335;MGC33368;SPGF7 CATSPER;OTTHUMP00000233989;cation channel sperm-associated protein 1;hCatSper;sperm ion channel;sperm-associated cation channel 1 APPROVED protein-coding ENSG00000175294 HGNC:17116 09396 606389;612997 REVIEWED 1316921 CATSPER2 cation channel, sperm associated 2 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014] 15 15 15 q15.3 20691389 20709656 + 43922772 43941039 - 43630562 43648845 - 1580863;6480464 11595929;11675491;12477932;14702039;16382101;16740636;17207965;20301780;20379614;23519396 117155 B8ZZQ9;E7EX46;F8W9H2;H7BZ89;H7C2X6;Q96P56 ABBA01049637;ABBA01049638;AC011330;AF411817;AF411818;AF411819;AK093318;AK122607;AMYH02030317;AW135409;BC028728;BC064387;BM998110;BX648099;CH471308;NG_009283;NM_001282309;NM_001282310;NM_054020;NM_172095;NR_110319 AAH28728;AAH64387;AAL26490;AAL26491;AAL26492;ADQ32834;BAG53620;EAW50798;EAW50801;EAW50802;NP_001269238;NP_001269239;NP_473361;NP_742093;Q96P56 Hs.662284 1799086;1801674;1805630;1810882;1811414;1811656;1811982;1812056;1817178;1818190;1819356;1819688;1820688;1822272;1823790;1826022;1826114;1826116;1826206;1833094;1833560;1834894;1838602;1840486;1842610;1844786;1845826;1933032;1933034;1933036;1933038;1933040;1933042;1933044;1933046;1933048;1933050;1933052;1933054;1933056;1933058;1933060;1933062;1933064;1933066;1933068;1933070;1933072;1933074;1933076;1933078;1933080;1933082;1933084;1933086;1933088;1933090;1933092;1933094;1933096;1933098;1933100;1933102;1933104;1933106;1933108;1933110;1933112;1933114;1933116;1933118;1933120;1933122;1933124;1933126;1933128;1933130;1933132;1933134;1933136;1933138;1933140;1933142;1933144;1933146;1933148;1933268;1933276;1933278;1933286;1933300;1933302;1933312;1933318;1933356;2208940;2208942;2208944;2208946;2208948;2208950;2208952;2208954;2208956;2208958;2208960;2208962;2209022;2209024;2209026;2209030;2209032;2218338;5014003;5022651;5037552 CATSPER2_4515;D11S2921;D17S1136;D8S2279;ECD00389;ECD01716;ECD03765;ECD06439;ECD06705;ECD06831;ECD06996;ECD07033;ECD09639;ECD10152;ECD10745;ECD10911;ECD11419;ECD12222;ECD12987;ECD14120;ECD14166;ECD14167;ECD14214;ECD17689;ECD17923;ECD18597;ECD20475;ECD21429;ECD22512;ECD23609;ECD24132;REN37348;REN37349;REN37350;REN37351;REN37352;REN37353;REN37354;REN37355;REN37356;REN37357;REN37358;REN37359;REN37360;REN37361;REN37362;REN37363;REN37364;REN37365;REN37366;REN37367;REN37368;REN37369;REN37370;REN37371;REN37372;REN37373;REN37374;REN37375;REN37376;REN37377;REN37378;REN37379;REN37380;REN37381;REN37382;REN37383;REN37384;REN37385;REN37386;REN37387;REN37388;REN37389;REN37390;REN37391;REN37392;REN37393;REN37394;REN37395;REN37396;REN37397;REN37398;REN37399;REN37400;REN37401;REN37402;REN37403;REN37404;REN37405;REN37406;REN37467;REN37471;REN37472;REN37476;REN37483;REN37484;REN37489;REN37492;REN37511;stSG627831;stSG627832;stSG627833;stSG627835;stSG627836;stSG627837;stSG627838;stSG627840;stSG627841;stSG627842;stSG627843;stSG627845;stSG627910;stSG627911;stSG627912;stSG627914;stSG627917 MGC33346 OTTHUMP00000066276;OTTHUMP00000066277;OTTHUMP00000066278;OTTHUMP00000199626;cation channel sperm-associated protein 2;sperm ion channel APPROVED protein-coding ENSG00000166762 HGNC:18810 16236 607249 REVIEWED 1625093 CATSPER2P1 cation channel, sperm associated 2 pseudogene 1 Catsper genes belong to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. This gene is part of a tandem repeat on chromosome 15q15; this copy of the gene is thought to be a pseudogene. [provided by RefSeq, Oct 2008] 15 15 15 q15.3 20917594 20927959 - 44028132 44038496 - 43735934 43746298 - 6480464 12477932;12825070;17098888;18085818;18974790 440278 ABBA01039224;ABBA01039225;ABBA01039226;AC018512;AMYH02030324;BC047442;BC052612;BC066967;NR_002318 Hs.253260 1798698;1799086;1801048;1805630;1810882;1811656;1817956;1818400;1819356;1819688;1834894;1837116;1838908;1841470;1842610;1844552;1844786;1933092;1933096;1933112;1933114;1933120;1933122;1933126;1933132;1933144;1933156;1933302;1933304;1933306;1933308;1933310;1933312;1933314;1933316;1933318;1933320;1933322;1933324;1933326;1933328;1933330;1933332;1933334;1933336;1933338;1933340;1933342;1933344;1933346;1933348;1933350;1933352;1933354;1933356;1933358;1933360;1933362;1933364;1933366;1933368;1933370;1933372;1933374;2208950;2208954;2208962;2209026;2209028;2209030;2209032;2209034;2209036;2209038;2218338 CATSPER2_4515;ECD00189;ECD00389;ECD01392;ECD03765;ECD06439;ECD06831;ECD10033;ECD10258;ECD10745;ECD10911;ECD18597;ECD19723;ECD20633;ECD21931;ECD22512;ECD23490;ECD23609;REN37378;REN37380;REN37388;REN37389;REN37392;REN37393;REN37395;REN37398;REN37404;REN37411;REN37484;REN37485;REN37486;REN37487;REN37488;REN37489;REN37490;REN37491;REN37492;REN37493;REN37494;REN37495;REN37496;REN37497;REN37498;REN37499;REN37500;REN37501;REN37502;REN37503;REN37504;REN37505;REN37506;REN37507;REN37508;REN37509;REN37510;REN37511;REN37512;REN37513;REN37514;REN37515;REN37516;REN37517;REN37518;REN37519;REN37520;stSG627837;stSG627840;stSG627845;stSG627912;stSG627913;stSG627914;stSG627917;stSG627918;stSG627919;stSG627922 APPROVED pseudo ENSG00000205771 HGNC:31054 VALIDATED 1344208 CAV3 caveolin 3 This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008] 3 3 3 p25 8710271 8723238 + 8775486 8788451 + 8733800 8746765 + 1599529;1582168;1599542;1580863;6480464;6484113;6907045;7240710;8554872;8699517 12566108;15925413;9537420 10066366;10386585;10746614;10835421;10988290;11001938;11115849;11251997;11431690;11532985;11756609;11805270;11821059;11884389;11904769;12082049;12387816;12477932;12557291;12648214;12666119;12839838;12847114;12939441;14600260;14663034;14672715;14729862;14749532;14981167;15099591;15489334;15541368;15564037;15580566;15668980;15682833;15703204;16082247;16247063;16458928;16479074;16521037;16563233;16770780;17039257;17060380;17210839;17275750;17307729;17405141;17524427;17537631;17615539;18253147;18487559;18509671;18583131;18671188;18930476;18936328;18985008;19101541;19219452;19238754;19380584;19481058;19544087;19584897;19773168;19913121;20201926;20229577;20301308;20301559;20301582;20301725;20346360;20472890;20558763;20628086;21084288;21294223;21362533;21362625;21496630;21988832;22236542;22879586;23071107;23237801;23311301;23465283;23541953;23640888;24021552;7797570;8567687;9252390;9353265;9374534;9536092;9545514;9756945 859 P56539 AA993189;ABBA01020417;AC068312;AF036365;AF036366;AF036367;AF043101;AF204690;AK291892;AMYH02006221;BC069368;BC102033;BC102036;BC102037;BF310794;BX114193;CH471055;NG_008797;NM_001234;NM_033337;Y14747 AAC14931;AAC39756;AAC39758;AAG02025;AAH69368;AAI02034;AAI02037;AAI02038;BAF84581;CAA75042;EAW63945;EAW63946;NP_001225;NP_203123;P56539 Hs.98303 1338032;1687642;2218340 CAV3_2400;D3S1597;RH92828 LGMD1C;LQT9;MGC126100;MGC126101;MGC126129;VIP-21;VIP21 M-caveolin;OTTHUMP00000115603;OTTHUMP00000207105;caveolin-3 APPROVED protein-coding ENSG00000182533 HGNC:1529 03154 123320;192600;601253;606072;607801;611818;614321 REVIEWED 1343117 CAV2 caveolin 2 The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011] 7 7 7 q31.1 110946853 110956001 + 116139655 116148595 + 116499601 116508541 + 1600654;1625364;1580863;6480464;6784517;6784520;6484113;6907045;8661770;8661771;8661774 16258026;17060028;20558341;22492718;22528460;23743525;24572674 10087206;10212252;10218480;10464308;10675563;10675615;10817676;11076863;11238462;11256614;11294831;11515846;11752456;12091389;12138116;12414992;12477932;12496259;12633858;12648214;12690205;12743374;12782592;12813462;12866378;1360410;15230350;15489334;15489336;15504032;15569306;15583422;15703204;15788404;15968725;16169070;16244790;16341674;16344560;16381901;16521037;16799092;16904002;17081983;17192395;17567994;17615539;17671707;17898556;17912630;18081315;18187620;18976975;19913121;19931615;19948975;20062060;20209490;20346360;20628086;20819778;20835238;21139048;21178094;21321670;21373752;21489836;21551225;21873608;21900206;22236542;22819829;23056496;23667606;7479780;7829101;8552590;9361015;9707634;9801158;9837809 858 E9PCT3;P51636;Q53X57 AA878149;AA883287;AB451285;AB451417;ABBA01057808;AC006159;AF035752;AI762868;AJ011300;AJ133269;AJ242718;AK024513;AK310786;AK311964;AMYH02016626;AV650449;AW022298;AY353255;BC005256;BM542127;BM762545;BT007051;BX350116;CH236947;CH471070;CR407685;DA882274;DQ656068;NG_029920;NM_001206747;NM_001206748;NM_001233;NM_198212 AAB88492;AAH05256;AAP35700;AAQ57600;BAG34904;BAG70099;BAG70231;CAB36907;CAB63653;CAB65090;CAG28613;CAL38690;EAL24361;EAL24362;EAW83499;EAW83500;EAW83501;EAW83502;NP_001193676;NP_001193677;NP_001224;NP_937855;P51636 Hs.212332;Hs.603096 1676476;1797348;1802708;1803184;1803692;1805770;1813864;1813938;1816738;1826650;1836322;1838350;1845638;1848956;1851284;1991982;1991984;1991986;1991988;1991990;1991992;1991994;1991996;1991998;1992000;1992002;1992004;1992006;1992008;1992010;1992012;1992014;1992016;1992018;1992020;1992022;1992024;1992026;1992028;1992030;1992032;1992034;1992036;1992038;1992040;1992042;1992044;1992046;1992048;1992050;1992052;1992054;1992056;1992058;1992060;2093226;2093228;2093230;2093232;2093234;2093236;2093238;2143975;5015619;5022234;5022578;5037552 CAV2_2353;D11S3114;D1S1423;D7S2814;D8S2279;ECD02241;ECD02483;ECD02752;ECD03836;ECD07958;ECD07996;ECD09413;ECD14439;ECD19323;ECD20349;ECD24037;L17708;REN66896;REN66897;REN66898;REN66899;REN66900;REN66901;REN66902;REN66903;REN66904;REN66905;REN66906;REN66907;REN66908;REN66909;REN66910;REN66911;REN66912;REN66913;REN66914;REN66915;REN66916;REN66917;REN66918;REN66919;REN66920;REN66921;REN66922;REN66923;REN66924;REN66925;REN66926;REN66927;REN66928;REN66929;REN66930;REN66931;REN66932;REN66933;REN66934;REN66935;RH65870;RH80255;STS-U32114;stSG597940;stSG597942;stSG597943;stSG597945;stSG597946;stSG597947;stSG597948 CAV;MGC12294 OTTHUMP00000025032;OTTHUMP00000195982;caveolae protein, 20-kD;caveolin 2 isoform a and b;caveolin-2 1643439 BW101_H APPROVED protein-coding ENSG00000105971 HGNC:1528 03029 601048 REVIEWED 1322128 CATSPERG catsper channel auxiliary subunit gamma CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010] 19 19 19 q13.1 35628680 35663824 + 38826443 38861589 + 38335803 38370949 + 737633;6480464;8554872 12477932 14702039;16344560;19516020;22118674;22990118 57828 B8ZZI7;F8WDD6;H9KV36;K7EQR6;K7EQY4;M0QZ16;O75294;Q32MQ2;Q6ZRH7;X1WI24 ABBA01040680;AC005625;AC005789;AC026806;AK096218;AK128039;AK128220;AK310460;AL133023;AMYH02036068;AMYH02036069;AMYH02036070;AW072458;BC033852;BC060889;BC094785;BC109035;BG719195;CH471126;DB096694;NM_021185;XM_005259114;XM_005259115;XM_005259116;XM_005259117;XM_005259118;XM_006723308;XM_006723309;XM_006723310;XM_006723311 AAC34570;AAC34571;AAI09036;BAC87333;CAH56391;EAW56777;EAW56778;EAW56779;EAW56780;EAW56781;EAW56782;EAW56783;NP_067008;Q6ZRH7;XP_005259171;XP_005259172;XP_005259173;XP_005259174;XP_005259175;XP_006723371;XP_006723372;XP_006723373;XP_006723374 Hs.324335 1677895;1719517;5014019;5015404;5016851;5020414;5020946;5022383;5037552;5109281 D1S1425;D5S2354;D8S2279;ECD04345;L17688;L17705;L17971;RH123479;RH80031;RH92232 C19orf15;DKFZp434A1022;FLJ38899;FLJ46353;MGC125664 OTTHUMP00000203420;OTTHUMP00000203421;OTTHUMP00000203422;OTTHUMP00000203424;cation channel sperm-associated protein subunit gamma;cation channel, sperm-associated, gamma APPROVED protein-coding ENSG00000099338 HGNC:25243 12698 613452 VALIDATED 1345422 CATSPERB catsper channel auxiliary subunit beta INVOLVED IN cell differentiation (inferred); multicellular organism reproduction (inferred); multicellular organismal development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN CatSper complex (ortholog); INTERACTS WITH progesterone 14 14 14 q32.12 72095740 72251049 - 92046728 92198413 - 91580774 91732069 - 6480464;8554872 10737800;12477932;14702039;17081983;17478420;20164292;20967262 79820 B3KWW9;G3V2V0;G3V352;G3V3V9;G3V584;H0YJA5;Q9H7T0 ABBA01030472;ABBA01030473;ABBA01030474;AC215700;AK024360;AK126034;AL121839;AL133373;AMYH02029747;AMYH02029748;AMYH02029749;AMYH02029750;AMYH02029751;AX883951;BC016315;BC126214;BC126216;BE695220;CH471061;FY210737;FY211725;FY212048;FY212994;NM_024764 AAI26215;AAI26217;BAB14896;BAG54281;CAE92175;EAW81460;NP_079040;Q9H7T0 Hs.131755 1338522;1679177;1725545;1732001;1748757;1759151;1760491;1775766;2120016;2158511;2164412 D14S280;D14S300;G35406;G35485;G35722;G36228;RH119171;RH99035;SHGC-110388;SHGC-1415;SHGC-143431 C14orf161;CatSper(beta);FLJ14298 OTTHUMP00000245150;catSper-beta;cation channel sperm-associated protein subunit beta;cation channel, sperm associated beta;cation channel, sperm-associated, beta APPROVED protein-coding ENSG00000133962 HGNC:20500 16613 611169 VALIDATED 619568 CAV1 caveolin 1, caveolae protein, 22kDa The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010] 7 7 7 q31.1 110972249 111008654 + 116164839 116201239 + 116524785 116561185 + 1581152;1581153;1581154;1600654;1625360;1625364;1580863;2289101;2289102;2289112;2289109;2289124;2289103;2289106;2289110;2289111;2289113;2289120;2289125;2289100;2289104;2289105;2289107;2289116;2289123;2296031;6480464;6784517;6784532;6784520;6784526;6484113;6907045;7240710;8661766;8661809;8661782;8554872;8661778;8662276;8662277;8661786;8661768;8661770;8661775;8661776;8661765;8699517;8661783;8661784;8661777;8661780;8661767;8661773;8661774;8661794;8662275;8661779;8661789;8661787;8661769 11032026;11170154;11289096;11529503;11751529;12366416;12368209;12866378;14506154;15247769;15334058;15353500;15355971;15375584;15948133;16258026;16328005;16417587;17060028;17234162;17275798;17293479;17470567;17487232;17786030;17915016;17952758;17986358;18759267;19675140;19828204;20835238;20881564;21585620;21795534;21909981;21965771;22007835;22134245;22402147;22492718;22528460;22876122;22954805;23051628;23267770;23538027;23675421;23743525;23764359;24329494;24572674;9685399 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857 A9XTE5;C9JKI3;E9PCT5;F8WDM7;Q03135;Q2TNI1;Q59E85;Q7Z4F3 AB209926;AB451284;AB451416;ABBA01057807;ABBA01057808;AC006159;AF019742;AF070648;AF074993;AF095591;AF095592;AF095593;AF125348;AF172085;AI878826;AJ133269;AK290871;AK307501;AL133639;AMYH02016626;AMYH02016627;AMYH02016628;AMYH02016629;AY762103;BC006432;BC009685;BC082246;BG170208;BT007143;CH236947;CH471070;DA477166;DA943080;DB266251;EF179102;EF649773;EF649774;NG_012051;NM_001172895;NM_001172896;NM_001172897;NM_001753;Z18951 AAB82538;AAD23745;AAD34722;AAH09685;AAH82246;AAP35807;AAQ13608;AAX07830;ABM81573;ABM84753;ABW03274;ABW22625;ABW22626;BAD93163;BAF83560;BAG70098;BAG70230;CAA79476;CAB63654;CAL38555;EAL24360;EAW83503;EAW83504;EAW83505;NP_001166366;NP_001166367;NP_001166368;NP_001744;Q03135 Hs.74034 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BSCL3;CAV;CGL3;LCCNS;MSTP085;PPH3;VIP21 OTTHUMP00000025031;OTTHUMP00000195988;OTTHUMP00000195989;OTTHUMP00000196475;OTTHUMP00000198308;caveolin-1;cell growth-inhibiting protein 32 APPROVED protein-coding ENSG00000105974 HGNC:1527 03028 601047;606721;612526;615343 REVIEWED 1319231 CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008] 20 20 20 q11 28831000 28990870 + 32077928 32237837 + 33490122 33650031 + 1580863;6480464;8554872 10675041;11780052;12242670;12477932;14703694;15146197;15302935;15333839;15489334;16189514;16227606;16407974;16713569;16966434;18586123;19026687;19060904;20211142;20520637;21832049;21988832;22443175;22498736;9447981;9787195;9790752 9139 O43439;Q68DC6 AB209306;ABBA01019224;ABBA01019225;ABBA01019226;ABBA01019227;ABBA01019228;ABBA01019229;ABBA01019230;AF013970;AF039200;AF052210;AF052211;AF052212;AF068266;AF069747;AF076452;AK294168;AK307887;AK314159;AL034421;AL121906;AL162505;AMYH02036953;AMYH02036954;AMYH02036955;AMYH02036956;AMYH02036957;BC015066;BC016298;BC040344;CB998035;CH471077;CN347014;CR749462;KF456880;NM_001032999;NM_001039709;NM_005093;XM_006723886;XM_006723887 AAC17499;AAC19378;AAC39841;AAC64699;AAC64700;AAD02825;AAD41221;AAH15066;AAH16298;AAH40344;ABZ92457;ADZ15879;BAD92543;BAG36843;BAG57490;CAH18294;EAW76311;EAW76312;EAW76313;NP_001028171;NP_001034798;NP_005084;O43439;XP_006723949;XP_006723950 Hs.153934 1340073;1646524;1646526;1665442;1691604;1693348;1698658;1735006;1759673;1847943;2120842;2125577;2144188;2145511;2152036;2154841;2158757;2167380;2170936;2174444;2185541;5022450;5022651;5037552;5109281;5121147 A001X17;AL032536;AL034532;CHLC.GATA24A11;D10S275;D11S2921;D1S1425;D20S1071;D20S552E;D20S554E;D20S734;D20S815;D20S890;D8S2279;G06317;G18081;G19744;G31204;RH102888;RH11816;RH16591;RH18390;SHGC-150946;SHGC-7112;T15360;Z94436 DKFZp313F2116;EHT;MTGR1;ZMYND3;p85 ETO homolog on chromosome 20;ETO homologous on chromosome 20;MTG8-like protein;MTG8-related protein 1;OTTHUMP00000030653;OTTHUMP00000030654;OTTHUMP00000030656;myeloid translocation gene-related protein 1;myeloid translocation-related protein 1 APPROVED protein-coding ENSG00000078699 HGNC:1536 04721 603672 REVIEWED 1348062 CBLN1 cerebellin 1 precursor This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008] 16 16 16 q12.1 33823798 33827712 - 49311828 49315742 - 49277917 49281831 - 1580863;6480464 10022429;10688962;10964938;12477932;15146197;15489334;17030622;1704129;20200953;22117778;24133439;2760624;7877445 869 H3BQD0;P23435 ABBA01000896;AC007614;AI147523;AK314276;AMYH02031996;BC093692;BC093718;CH471092;CN281334;M58583;NM_004352;R50764 AAA35676;AAH93692;AAH93718;BAG36936;EAW82731;NP_004343;P23435 Hs.458423 1649859;1658512;1663922;1774671;2107915;2165697;2171051;5492296 CBLN1_8243;Cbln1;D16S2661;D16S2966;G15895;RH69147;SHGC-60729;SHGC-60807 OTTHUMP00000164195;cerebellin-1;precerebellin APPROVED protein-coding ENSG00000102924 HGNC:1543 02697 600432 VALIDATED 1321512 CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] 16 16 16 q24 74009858 74110779 - 88941263 89043568 - 88874855 88977156 - 1580863;6480464;8554872 11533236;11823486;11999578;12183414;12213200;12242670;12477932;14702039;14703694;15231665;15342556;16407974;16966434;17203973;18456661;18586123;18656694;18950503;19497860;20116376;20138877;20150326;20603019;21988832;22010104;22420028;22443175;22498736;23127762;23153540;23251453;23840896;24127550;24133439;9447981;9596646;9790752 863 H3BMZ0;H3BNH2;H3BNI7;H3BR72;H3BSI4;H3BU07;J3QRB1;O75081 AB010419;AB010420;AB013286;ABBA01013588;ABBA01013589;ABBA01013590;ABBA01013591;ABBA01013592;AC092384;AF052213;AF052214;AF052215;AF052216;AF052217;AF052220;AK090985;AK097904;AK308355;AK314766;AMYH02032649;AMYH02032650;AMYH02032651;AMYH02032652;AMYH02032653;AMYH02032654;BC009554;BC047019;BC062624;BE243049;BE676580;BP282804;CH471184;HI573916;HI573918;NG_029533;NM_005187;NM_175931;XM_005256323;XM_006721319;XM_006721320 AAC64698;AAC64701;AAC64702;AAH47019;AAH62624;ABZ92419;BAA29061;BAA29062;BAA31276;BAA31277;BAG37304;BAG52257;CBX47447;CBX47448;EAW66746;EAW66747;EAW66748;EAW66749;EAW66750;EAW66751;EAW66752;NP_005178;NP_787127;O75081;XP_005256380;XP_006721382;XP_006721383 Hs.513811 1666229;1678241;1716377;1762953;1764563;2131458 RH121368;RH93203;SHGC-146703;SHGC-148155;SHGC-61188;SHGC-64049 ETO2;MTG16;MTGR2;ZMYND4;hMTG16 MTG8-related gene 2;MTG8-related protein 2;OTTHUMP00000175195;OTTHUMP00000175196;myeloid translocation gene 8 and 16b;myeloid translocation gene on chromosome 16 protein;zinc finger MYND domain-containing protein 4 APPROVED protein-coding ENSG00000129993 HGNC:1537 04847 603870 REVIEWED 1316966 CBLC Cbl proto-oncogene C, E3 ubiquitin protein ligase This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 19 19 19 q13.2 42085488 42107328 + 45281126 45303903 + 44777869 44800646 + 1580863;6480464;6907045;8554872 10086340;10362357;10571044;10737800;12024036;12177062;12226085;12234920;12244174;12477932;12711395;14661060;15117950;15302935;18753381;19549727;20525694;21900206;21906983;21988832;22315494;22493164;22888118;23105109;23145173;24466333;24831009;9824625;9988270 23624 Q9ULV8 AB028645;ABBA01040884;ABBA01040885;AC092066;AF117646;AF117647;AMYH02036180;BC028915;BF835530;CH471126;NM_001130852;NM_012116;XM_005258696;XM_005258697;XR_243917 AAD34341;AAD34342;AAH28915;ABM82169;ABM85419;BAA86298;EAW57292;EAW57293;NP_001124324;NP_036248;Q9ULV8;XP_005258753;XP_005258754 Hs.466907 5024161 RH48807 CBL-3;CBL-SL;RNF57 Cas-Br-M (murine) ecotropic retroviral transforming sequence c;Cas-Br-M (murine) ectropic retroviral transforming sequence c;Cbl proto-oncogene, E3 ubiquitin protein ligase C;E3 ubiquitin-protein ligase CBL-C;OTTHUMP00000198327;OTTHUMP00000198328;RING finger protein 57;SH3-binding protein CBL-3;SH3-binding protein CBL-C;signal transduction protein CBL-C APPROVED protein-coding ENSG00000142273 HGNC:15961 09765 608453 REVIEWED 1321764 CBLL1 Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011] 7 7 7 q22.3 102191387 102209180 + 107383942 107402112 + 107743697 107761667 + 737633;6480464;8554872 12477932 11836526;11944035;12853948;14996930;15009096;15146197;15161933;15342556;16336960;16344560;18057010;19535458;19711372;20379614;20608937;21191016;21283129;21685945;22252131;22715382;22850631;23285092;24250222;24457600;24654937;24722188 79872 B4DDV7;C9J2P9;C9K074;F8WEM5;Q75N03 ABBA01057904;AC002467;AI055864;AK026762;AK293352;AK307992;AMYH02016518;BC027460;BC130529;BC130531;BC144176;BP201841;BP280978;BX348716;CH236947;CH471070;CN274642;CN291556;DB033469;DB174309;NM_001284291;NM_024814;NR_024199;XM_006716132 AAH27460;AAI30530;AAI30532;AAI44177;AAS07390;ADR83027;BAB15544;BAG56868;EAW83416;EAW83417;NP_001271220;NP_079090;Q75N03;XP_006716195 Hs.592271 2114190;2143913 D7S756;STS-N34389 FLJ23109;MGC163401;MGC163403;RNF188 Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1;Casitas B-lineage lymphoma-like;Cbl proto-oncogene, E3 ubiquitin protein ligase-like 1;E-cadherin binding protein E7;E3 ubiquitin-protein ligase Hakai;HAKAI;OTTHUMP00000206719;OTTHUMP00000206720;OTTHUMP00000206722;OTTHUMP00000206724;RING finger protein 188;c-Cbl-like protein 1;casitas B-lineage lymphoma-transforming sequence-like protein 1 APPROVED protein-coding ENSG00000105879 HGNC:21225 07590 606872 VALIDATED 1320589 CBFB core-binding factor, beta subunit The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51571303 51643220 + 67063050 67134961 + 67029147 67101058 + 1599543;6480464;7240710;8699517 8351518 10404215;10536006;10856244;10914550;10958941;11276260;11742995;12217689;12239155;12434156;12477932;12495904;14729951;15138260;15243141;15331439;15386419;15489334;15585652;16169070;16502584;16504290;16767164;17287858;17379770;17431401;17571080;18695000;19156145;19179469;19322201;19453261;19603346;19946888;20195357;20195544;20225274;20306249;20306685;20433876;20591170;20607802;21139048;21150319;22012064;22053931;22190034;22190036;22190037;22193545;22205746;22479405;22498736;22505724;22725134;23098073;23152542;23160462;23175372;23300442;23333304;23430691;23878140;23988114;24002588;24250222;24390320;24390335;24402281;24418540;24422669;24522927;24648201;24816145;7587111;7622058;8889548;8889549;9191054;9264408;9447981;9751710;9751756 865 H3BSC0;J3KRT0;J3KS23;J3KTD8;Q13951 AA020956;ABBA01025426;ABBA01025427;ABBA01025428;AC009084;AC074143;AF294326;AK290462;AK291834;AK311084;AK311724;AMYH02032222;AMYH02032223;AMYH02032224;BC018509;BM679848;BT006862;CH471092;L20298;NG_009281;NM_001755;NM_022845;XM_005256212;XM_006721321 AAA02868;AAG01553;AAH18509;AAP35508;ABM84645;ABM92175;BAF83151;BAF84523;EAW83066;EAW83067;EAW83068;EAW83069;EAW83070;EAW83071;NP_001746;NP_074036;Q13951;XP_005256269;XP_006721384 Hs.460988 1644873;2106971;2148180;5017526 CBFB;CBFB_7757;RH67901;RH78908 PEBP2B CBF-beta;OTTHUMP00000174817;PEA2-beta;PEBP2-beta;SL3-3 enhancer factor 1 beta subunit;SL3-3 enhancer factor 1 subunit beta;SL3/AKV core-binding factor beta subunit;core-binding factor subunit beta;polyomavirus enhancer binding protein 2, beta subunit;polyomavirus enhancer-binding protein 2 beta subunit APPROVED protein-coding ENSG00000067955 HGNC:1539 00418 121360;601626 REVIEWED 1343800 CBLN3 cerebellin 3 precursor Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009] 14 14 14 q12 4760374 4763367 - 24895738 24898731 - 24426532 24429525 - 6480464 10964938;12975309;15340161;17030622;20686565 643866 G3V2Y8;Q6UW01 ABBA01061345;AL132800;AMYH02028880;AY359070;CD368047;NG_034018;NM_001039771 AAQ89429;NP_001034860;Q6UW01 Hs.207603 1777306;2186765 RH11211;WI-18521 PRO1486 OTTHUMP00000245805;cerebellin-3 APPROVED protein-coding ENSG00000139899 HGNC:20146 612978 VALIDATED 1345184 CBL Cbl proto-oncogene, E3 ubiquitin protein ligase This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Mar 2012] 11 11 11 q23.3 116236024 116339059 + 119076986 119178859 + 119206276 119308149 + 1580863;2299174;2317988;6480464;6484113;6907045;7240710;8554872;8699517 16829981;18175071 10025673;10068674;10074432;10078535;10086340;10092522;10204582;10347229;10358153;10372803;10374881;10427990;10428778;10449770;10477741;10514377;10521482;10531381;10540342;10567358;10570266;10570290;10608804;10617633;10620516;10629042;10635327;10648820;10657627;10679202;10684856;10779765;10799548;10826882;10829062;10854852;10907644;10918571;10962563;10966114;10967110;11001060;11024037;11030146;11032556;11042121;11053437;11067845;11071869;11087752;11133830;11149930;11152963;11157475;11239464;11262396;11263968;11278816;11313921;11331248;11353765;11370743;11399323;11406619;11408594;11418612;11443118;11494134;11553620;11687594;11696592;11697890;11713248;11741956;11742985;11777909;11788601;11792427;11823423;11826757;11847211;11850825;11891219;11894095;11894096;11896602;11904433;11944898;11964172;11983899;119942;11994282;11997436;11997497;12024036;12061819;12135478;12147253;12149655;12176909;12177062;12193575;12218189;12226085;12231245;12234920;12244174;12393469;12435267;12475393;12477932;12486104;12496371;12496419;12504111;12522270;12527895;12559036;12574167;12593795;12593796;12604776;12618476;12637493;12649282;12672817;12696071;12727845;12734385;12771190;12802274;12803489;12815057;12839496;12874286;12881521;12935897;12941616;14505571;14530346;14596919;14604282;14627991;14661060;14702039;14725908;14738146;15001553;15004239;15031295;15062086;15090612;15094368;15107835;15117950;15123609;15128873;15135048;15159412;15190072;15208330;15210722;15273720;15282549;15315962;15324660;15337528;15358160;15383614;15456872;15465819;15475003;15536084;15556646;15577829;15592455;15635092;1565471;15657067;15668240;15677445;15707590;15708858;15728256;15735736;15736970;15737992;15782196;15824310;15837792;15872089;15878338;15892963;15951569;15958209;15962011;16094384;16105874;16107303;16135792;16219545;16228008;16246327;16289966;16327786;16356860;16397241;16407834;16429130;16467851;16479008;16503409;16600665;16623714;16636290;16729043;16735510;16740632;16751776;16849543;16893902;16906159;16914641;16923119;16938345;16955467;16964243;16969069;17003487;17063465;17072306;17082185;17094785;17094949;17141222;17182860;17188587;17237826;17242169;17255109;17255943;17306257;17330819;17353186;17372230;17395426;17446348;17475912;17486068;17545148;17548467;17620296;17620338;17635922;17675467;17675501;17679095;17702744;17709377;17804547;17880946;17944804;17971399;17974561;17995934;18029348;18034775;18045238;18048363;18062779;18070883;18193084;18235045;18271526;18273061;18316398;18374639;18505781;18508924;18519587;18539136;18596201;18632619;18654987;18660489;18792408;18835194;18974118;19002168;19074904;19081591;19144635;19155296;19167335;19190244;19201892;19225046;19236749;19258424;19268472;19276253;19341794;19380743;19387008;19401194;19417776;19433454;19450681;19457607;19531213;19531499;19546888;19571318;19578043;19620960;19635790;19689429;19713535;19823681;19836242;19861161;19880507;19892728;19901108;19915061;19932172;19947936;19966856;20008299;20011623;20029031;20038312;20086179;20100865;20124286;20126411;20130058;2013228;20189481;20195608;20237427;2030914;20357823;20379614;20404156;20416077;20439986;20461437;20479273;20525683;20543203;20562913;20595524;20619386;20622007;20671051;20675402;20678218;20694012;20696396;20717917;20877636;20880116;20936779;20940296;21048031;21098288;21118980;21163258;21175263;21203488;21222362;21242968;21346257;21372129;21394196;21422499;21436637;21464131;21494262;21570973;21596750;21645455;21706016;21712076;21740303;21768087;21772844;21830225;21904853;21949687;21967979;21988239;21995445;22072526;22131879;22138511;22139419;22158968;22203672;22246246;22262777;22262855;22266821;22301280;22310290;22315494;22394513;22467879;22493164;22505724;22509030;22558309;22588125;22591401;22591685;22623369;22623428;22706086;22733026;22833562;22834886;22888118;22905207;22929312;22974441;22976291;23010802;23025505;23105109;23118026;23127761;23153581;23158001;23175185;23290524;23306613;23352614;23376399;23418353;23434382;23457600;23533197;23586039;23621189;23684068;23696637;23744067;23774213;23783394;23799367;23823657;23874206;23897813;23948411;24113870;24167568;24255178;24287595;24466333;24583314;24654937;24714105;24797263;24816145;24886428;25036637;5668240;7517397;7537740;7545163;7592693;7603564;7629144;7629518;7642581;7657591;7721825;7782294;7791764;7881408;8063801;8083187;82;8524328;8612729;8621483;8621719;8626404;8626543;8635998;8641358;8649804;8662998;8663231;8683103;8695807;8695851;8702998;8780698;8798643;8810341;8824292;8896416;8900205;8920860;8941725;8943292;8950973;8978305;8995243;8995358;8995445;9045636;9092538;9092574;9108392;9119889;9121472;9129019;9130710;9160881;9162067;9174058;9178769;9178909;9195915;9200440;9223670;9233773;9234717;9242692;9259313;9311917;9344843;9367879;9407100;9408950;9414268;9416834;9434624;9447983;9461587;9489702;9535867;9541596;9590251;9603468;9617486;9622055;9632690;9675877;9712732;9716598;9756944;9820532;9846481;9851874;9857068;9872323;9890943;9890970;9918857;9988730;9988765;9989826 867 P22681 AA806454;ABBA01039674;ABBA01039675;ABBA01039676;AK092300;AL832396;AMYH02025663;AMYH02025664;AMYH02025665;AP002956;BC132733;BC136463;BG722940;BX648139;CH471065;DB457271;NG_016808;NM_005188;X57110;X69207 AAI32734;AAI36464;CAA40393;EAW67476;NP_005179;P22681 Hs.504096 1646793;1686062;1699858;1721987;1742619;1768828;1794950;2111350;2143464;2157499;2218344;5014734;5123718;7185531 CBL;CBL_4518;D11S1941E;G15959;G59879;GDB:198117;PMC86017P1;RH103536;RH47875;RH93709;STS-X57110;WI-14589;WI-8978 C-CBL;CBL2;FRA11B;NSLL;RNF55 Cas-Br-M (murine) ecotropic retroviral transforming sequence;E3 ubiquitin-protein ligase CBL;OTTHUMP00000232087;RING finger protein 55;casitas B-lineage lymphoma proto-oncogene;fragile site, folic acid type, rare, fra(11)(q23.3);oncogene CBL2;proto-oncogene c-Cbl;signal transduction protein CBL APPROVED protein-coding ENSG00000110395 HGNC:1541 01320 165360;613563 REVIEWED 1346675 CBLN4 cerebellin 4 precursor This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012] 20 20 20 q13 51311804 51319320 - 54572413 54580528 - 55997357 56005472 - 6480464 11780052;12477932;12975309;15340161;15489334;16344560;17030622;17207965;17331201;18278437;19212655;21356198;21410790;22191730;22220752;23602568 140689 Q9NTU7 ABBA01052888;AK289640;AL117383;AMYH02037336;AY358527;BC047076;BC050026;BC069402;BC069488;BC069516;CD244520;CH471077;DA137489;DA391781;NM_080617;XM_005260291;XM_006723704 AAH50026;AAH69402;AAH69488;AAH69516;AAQ88891;ADQ32927;BAF82329;EAW75567;NP_542184;Q9NTU7;XP_005260348;XP_006723767 Hs.126141;Hs.741877 2218342 CBLNL1_4519 CBLNL1 OTTHUMP00000031325;cerebellin precursor-like 1;cerebellin-4;cerebellin-like glycoprotein 1 APPROVED protein-coding ENSG00000054803 HGNC:16231 16685 615029 REVIEWED 1320224 CBR3 carbonyl reductase 3 Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008] 21 21 21 q22.2 22706132 22717559 + 37506614 37518860 + 36134965 36146562 + 1580863;2316291;6480464;6907045 19088887 10728668;10830953;11592776;12477932;15075319;15489334;15537833;16169070;18029348;18457324;18493841;18551042;18676680;19016765;19027726;19170196;19590938;19615732;19625176;19671875;19692168;19841672;20494980;20734064;20806931;21145461;21256830;21853274;21890473;22001310;22124095;22360420;22425771;22504420;22527884;23182048;23314748;7705364;8125298;9503011;9740676 874 O75828;Q53F60;V9HW40 AB003151;AB004850;AB004854;AB041012;AB124847;ABBA01057384;AJ000096;AK223429;AMYH02037775;AP000689;AP001725;BC002812;CH471079;CR541709;EF462915;FJ224313;NM_001236 AAH02812;ABO43035;ACI46005;ADZ15887;BAA33500;BAA34207;BAA89425;BAA95547;BAD74062;BAD97149;BAE45939;CAA03921;CAG46510;EAX09747;NP_001227;O75828 Hs.154510 2154678 SHGC-87616 HEL-S-25;SDR21C2;hCBR3 NADPH-dependent carbonyl reductase 3;OTTHUMP00000109012;carbonyl reductase (NADPH) 3;carbonyl reductase [NADPH] 3;epididymis secretory protein Li 25;short chain dehydrogenase/reductase family 21C, member 2 APPROVED protein-coding ENSG00000159231 HGNC:1549 07222 603608 REVIEWED 5687877 CBR3-AS1 CBR3 antisense RNA 1 21 21 37504065 37528606 - 36131767 36156308 - 12477932;22264502;24337686;9740676 100506428 AB004851;ABBA01057384;AL542398;AMYH02037775;AP000689;BC037580;BC038671;BC047014;BI836686;NR_038892;NR_038893;NR_038894 Hs.651214 1663161;2124073;2154678;5014019;5014740;5015861;5016478;5020948;5022578;5022651;5037552;5093108;7185938 A009G10;D10S16;D11S2921;D17S610;D1S1423;D5S2354;D8S2279;G32524;G35510;GDB:434012;SHGC-87614;SHGC-87616 PlncRNA-1 APPROVED ncrna ENSG00000236830 HGNC:43664 VALIDATED 737546 CBR1 carbonyl reductase 1 The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013] 21 21 21 q22.13 22641173 22644350 + 37442285 37445462 + 36069924 36073177 + 1580863;1300048;2302233;6480464;6907045;8552774 12432932;18452227 10091578;10830953;11306092;11771743;12123751;12477932;12577067;12836057;1453004;1540623;15489334;16169070;17344335;17353931;17569794;17697149;18449627;18493841;18551042;18676680;18826943;19016765;19022938;19027726;19056867;19135240;19170196;19204081;1921984;19442656;19625176;19692168;19841672;20029029;20471030;20562859;20972266;21139048;21145461;21256830;21320693;2182121;21853274;21890473;21906983;22124095;22145905;22178446;22234250;22360420;22542806;22562609;23133646;23247010;23295225;23314748;23576398;24250222;24583282;24654784;3083821;3141401;3311025;7005231;7705364;8421682;8432528;9740676 873 A8MTM1;E9PQ63;P16152 AB003151;AB124848;ABBA01057382;AK294142;AK308691;AK311219;AK314879;AL548852;AMYH02037772;AP000688;AP001724;BC002511;BC015640;BT019843;CH471079;CR541708;EF141836;J04056;M62420;N51716;NM_001286789;NM_001757 AAA17881;AAA52070;AAH02511;AAH15640;AAV38646;ABK97430;ABM83279;ABM86485;BAA33498;BAA89424;BAA95508;BAE45940;BAG37394;BAG57468;CAG46509;EAX09752;EAX09753;EAX09754;EAX09755;NP_001273718;NP_001748;P16152 Hs.88778 1683084;1741803;1797350;2148329;2164298 CBR1_1984;GDB:185176;RH17586;RH91556;SHGC-52102 CBR;SDR21C1;hCBR1 15-hydroxyprostaglandin dehydrogenase;NADPH-dependent carbonyl reductase 1;OTTHUMP00000109013;carbonyl reductase (NADPH) 1;carbonyl reductase [NADPH] 1;prostaglandin 9-ketoreductase;prostaglandin-E(2) 9-reductase;short chain dehydrogenase/reductase family 21C, member 1 APPROVED protein-coding ENSG00000159228 HGNC:1548 00267 114830 REVIEWED 737316 CBS cystathionine-beta-synthase The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] 21 21 21 q22.3 29625968 29649139 - 44473301 44496472 - 43053191 43076362 - 1600622;1600624;1600626;1600627;1359024;1580863;1300048;6480464;6907045;7240710;7242427;8699517;8554872 12649066;12855221;16636197;20162368;7506602;9359866 10215408;10338090;10408774;10434301;10462600;10791559;10830953;11013450;11074524;11149614;11173483;11204591;11292330;11310576;11341749;11359213;11359462;11434706;11457468;11483494;11528503;11575217;11672761;11748855;11758232;11872884;12007221;12015064;12020105;12082592;12124992;12154064;12173932;12180146;12186157;12228232;12269827;12379655;12393509;12413583;12427542;12439143;12477932;12529702;12642343;12725044;12815602;12889841;1301198;14670973;14977639;15009965;15082224;15228193;15354395;15365998;15489334;15503105;15520012;15544339;15554031;15719048;15748616;15755387;15772012;15889417;15922487;15972722;15975077;16007597;16013960;16115349;16189514;16196087;16205833;16259797;16274669;16328059;16363792;16375773;16422253;16470595;16479318;16505479;16541333;16601865;16709328;16780588;16791140;16792904;16941496;16953589;17035141;17087506;17119116;17160942;17311259;17311260;17319270;17327360;17352495;17436311;17540596;17548676;17553479;17601350;17621169;17686644;17726616;17891500;17956124;17993766;18029348;18060852;18203168;18278872;18398434;18427977;18447718;18454451;18614746;18620331;18622257;18635682;18636124;18676680;18708589;18776696;18781797;18785313;18792976;18799873;18818748;18830263;18839533;18936436;18950795;18977241;18977990;18988749;18992148;19010420;19019082;19019335;19019492;19048631;19064578;19074437;19112534;19161160;19166826;19170196;19238444;19267073;19370759;19424622;19429038;19447967;19493349;19527514;19531479;19559392;19593657;19625176;19657138;19657388;19683694;19692168;19722721;19729796;19737740;19906435;19913121;19948975;20031554;20031578;20056620;20066033;20082058;20140262;20160465;20217437;20237949;20301334;20301697;20308073;20346360;20379614;20453000;20458436;20490928;20506325;20544798;20559280;20565774;20601281;20615890;20628086;20634891;20638879;20670920;20707729;20717043;20718043;20737570;20883119;20890573;20939734;20948192;21045269;21055808;21062078;21104445;21139048;21273695;21319273;21417705;21517828;21520339;21564312;21626167;21886822;21890473;21900206;21917271;21957013;21988832;22002135;22069143;22118674;22236648;22253703;22310774;22333527;22353391;22470444;22484094;22512572;22612060;22665368;22738154;22863883;22891245;22977242;22985361;23002992;23117410;23124209;23143240;23152928;23251661;23430030;23718855;23720494;23790103;23824729;23836652;23954866;23981774;24211323;24236104;24316487;24416422;24515102;24654937;2894761;404147;681363;7564249;7598711;7611293;7635485;7762555;7849717;7903580;7929220;7967489;7981678;8022826;8353501;840498;8528202;8755636;8803779;8990018;9156316;9266356;9361025;9383285;9466992;9590298;9790750;9889017 875 C9JMA6;H7C1W6;H7C2H4;H7C2W0;P35520;Q9NTF0 ABBA01004516;ABBA01004517;AF042836;AK294608;AK301063;AK313691;AL137314;AL531222;AMYH02037890;AMYH02037891;AP001630;BC000440;BC007257;BC010242;BC011381;BC012319;BT007154;CH471079;CQ779398;DC300040;DQ191754;HB891684;HB906392;HB908636;HB919838;HB928571;HB944969;HC949093;HC963801;HC966045;HC977247;HC985980;HD002379;L00972;L14577;L19501;NG_008938;NM_000071;NM_001178008;NM_001178009;X82166;X88562;XM_006724057 AAA19874;AAA98524;AAC64683;AAC64684;AAH00440;AAH07257;AAH10242;AAH11381;AAH12319;AAP35818;ABA28318;ABM81955;ABM85134;BAG36440;BAH11822;BAH13401;CAA57656;CAA61252;CAB70691;CAG14912;CBF70474;CBF85738;CBF88264;CBF94917;CBF99203;CBG07230;CBU94756;CBV01862;CBV02957;CBV08437;CBV12723;CBV20752;EAX09507;EAX09508;EAX09509;EAX09510;EAX09511;EAX09512;EAX09513;EAX09514;EAX09515;NP_000062;NP_001171479;NP_001171480;P35520;XP_006724120 Hs.533013 1730213;1741799;1742131;2147103;2170314;7186603 D21S271E;GDB:185174;GDB:192314;RH78946;SGC35805 HIP4 OTTHUMP00000109415;OTTHUMP00000109416;OTTHUMP00000109417;OTTHUMP00000109418;beta-thionase;cystathionine beta synthase;cystathionine beta-synthase;methylcysteine synthase;serine sulfhydrase APPROVED protein-coding ENSG00000160200 HGNC:1550 01994 236200;613381 REVIEWED 1602997 CBR4 carbonyl reductase 4 ENCODES a protein that exhibits NAD(P)H dehydrogenase (quinone) activity; NADPH binding; NADPH dehydrogenase (quinone) activity; INVOLVED IN daunorubicin metabolic process; doxorubicin metabolic process; protein homotetramerization; ASSOCIATED WITH Neoplastic Syndromes, Hereditary (inferred); FOUND IN mitochondrial matrix; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 5-aza-2'-deoxycytidine 4 4 4 q32.3 167240084 167262804 - 169815774 169931468 - 168894623 169010317 - 6480464;8554872 12477932;14702039;16344560;17207965;19000905;19027726;19322201;19571038;20877624;21890473;24250222 84869 D6RAV8;D6RGF2;D6RJF4;H0Y962;Q8N4T8 ABBA01070334;ABBA01070335;AC021151;AC080188;AC115538;AK027337;AK291756;AL049442;AL833393;AMYH02010478;AV704400;BC021973;BC033650;BG119539;BQ230058;CH471056;DA217727;HB874579;HC931988;NM_032783;W70279;XM_005263315;XM_005263316;XM_006714391;XM_006714392 AAH21973;AAH33650;ADQ31575;BAB55045;BAF84445;CAH10582;CBF61666;CBU86558;EAX04797;EAX04798;NP_116172;Q8N4T8;XP_005263372;XP_005263373;XP_006714454;XP_006714455 Hs.659311 1701298;1714531;2142789;2145811;5094862 CBR4;D4S998;RH104278;RH119778;SHGC4-1617 FLJ14431;SDR45C1 3-oxoacyl-[acyl-carrier-protein] reductase;OTTHUMP00000219586;OTTHUMP00000219599;OTTHUMP00000219638;carbonic reductase 4;carbonyl reductase family member 4;quinone reductase CBR4;short chain dehydrogenase/reductase family 45C, member 1 protein-coding ENSG00000145439 HGNC:25891 07859 VALIDATED 733798 CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase ENCODES a protein that exhibits calcium ion binding (inferred); ligase activity (inferred); phosphotyrosine binding (inferred); INVOLVED IN cell surface receptor signaling pathway (inferred); immune response (inferred); intracellular signal transduction (inferred); PARTICIPATES IN chronic myeloid leukemia pathway; endocytosis pathway; epidermal growth factor/neuregulin signaling pathway; ASSOCIATED WITH Arthritis, Experimental (ortholog); Insulin Resistance (ortholog); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 4-hydroxynon-2-enal; aflatoxin B1 3 3 3 q13.11 103775519 103986437 - 105374306 105589354 - 105655462 105869043 - 625457;1580863;2314039;2314040;2314037;2314038;2306289;2314041;6480464;6907045;8554872 12118252;14961073;15629882;16984225;17209142;17601987;18201552 10022120;10074432;10086340;10635327;11053437;11087752;11375397;11406619;11526404;11826757;11857085;12093870;12177062;12218189;12477932;12577067;12697763;12771181;12874286;12880961;12907674;12935897;14604964;14661060;14702039;15231748;15273720;15315962;15489334;15922296;16002993;16007098;16189514;16228008;16459459;16503409;16525057;16702950;16729043;16734387;16868939;17020880;17081983;17235393;17255943;17330819;17475912;17878343;18029348;18271526;18316398;18539136;18596201;19190244;19285159;19380743;19506219;19531213;19531499;19546888;19815501;19834503;19880507;19915061;20038312;20237496;20395198;20400514;20453840;20467438;20639876;20936779;21037273;21248249;21346257;21453975;21558139;21645455;21706016;21768087;21807564;21900206;22158902;22194214;22447040;22505724;22884570;23039885;23145173;23280105;23586056;23684068;24351824;24631539;24797263;25099615;7784085;8889548;9399639;9614102 868 B3KSS7;B5MC15;C9JRB3;C9JU85;E9PHA9;Q13191;Q68CY2 AA251219;AB075490;ABBA01061727;ABBA01061728;AC016138;AC112485;AC126185;AK094184;AK123147;AK130668;AK292792;AK302533;AK302892;AK316276;AMYH02007366;AMYH02007367;AMYH02007368;BC032851;BC065915;BQ188745;BX537484;BX649066;CH471052;CR749655;DQ349203;DQ349204;NM_170662;R78694;U26710;U26711;U26712;XM_005247852;XM_005247853;XM_006713796;XM_006713797;XR_427384;XR_427385 AAB09291;AAB09292;AAB09293;AAH32851;ABC86700;ABC86701;ABM85378;ABW03717;BAE45748;BAF85481;BAG52839;BAG53874;BAG63805;BAG64066;BAH14647;CAH18449;CAH56175;EAW79751;EAW79752;EAW79753;EAW79754;NP_733762;Q13191;XP_005247909;XP_005247910;XP_006713859;XP_006713860 Hs.430589 1646100;1649466;1730379;1747791;2107913;2129900;2145362;2147674;2169339;2178288;7187048 1232;A003P06;CBLB_8242;D3S1333E;D3S3959;D3S4235;G66779;SHGC-35478;SHGC-77171;SHGC-77174 Cbl-b;DKFZp686J10223;DKFZp779A0729;DKFZp779F1443;FLJ36865;FLJ41152;Nbla00127;RNF56 Cas-Br-M (murine) ecotropic retroviral transforming sequence b;Cas-Br-M (murine) ectropic retroviral transforming sequence b;Cbl proto-oncogene, E3 ubiquitin protein ligase B;E3 ubiquitin-protein ligase CBL-B;OTTHUMP00000198145;OTTHUMP00000198146;OTTHUMP00000198147;RING finger protein 56;SH3-binding protein CBL-B;casitas B-lineage lymphoma proto-oncogene b;signal transduction protein CBL-B APPROVED protein-coding ENSG00000114423 HGNC:1542 05136 604491 VALIDATED 1320203 CBLN2 cerebellin 2 precursor INVOLVED IN positive regulation of synapse assembly (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene 18 18 18 q22.3 67055763 67063568 - 70203915 70211723 - 72536680 72552636 - 6480464 12477932;12975309;14702039;15489334;17030622;19010793;22117778;22569225;23502781;7877445 147381 J3KST0;J3QS23;Q8IUK8 ABBA01056307;AC011208;AK125422;AK291364;AMYH02034975;AY359074;BC035789;BC110843;BX409761;CH471117;CS208023;HB867208;NM_182511;XM_006722394 AAH35789;AAQ89433;BAF84053;CAJ44937;CBF57590;EAW66527;EAW66528;EAW66529;NP_872317;Q8IUK8;XP_006722457 Hs.569851 1646599;2181476 D18S1269;RH15985 OTTHUMP00000163726;cerebellin-2 protein-coding ENSG00000141668 HGNC:1544 15970 600433 VALIDATED 1352030 CBWD2 COBW domain containing 2 ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH copper(2+) sulfate; levonorgestrel; 2,4-dinitrotoluene (ortholog) 2 2 q13 114195268 114253781 + 113437691 113496204 + 6480464 12421752;12477932;15233989;16169070;16344560;17353931;19615732;21145461;21890473;21906983;21963094;22505724;24778252;8125298 150472 C9J3G2;F8WEG4;F8WEU0;F8WFD0;Q8IUF1 ABBA01018420;AC016745;AC245097;AF452722;AK124867;AK225251;AK290072;AK303653;AL078621;AMYH02004598;AMYH02004599;AY343910;BC120991;BC120992;DA296279;HH771664;NM_172003;XM_005263600;XM_005263602;XM_005263603;XM_005263604;XM_005263605;XM_005263606;XR_244814;XR_249193;XR_427073 AAI20992;AAI20993;AAN64907;AAQ76868;BAC85973;BAF82761;BAH14006;CBX86534;NP_742000;Q8IUF1;XP_005263657;XP_005263659;XP_005263660;XP_005263661;XP_005263662;XP_005263663 Hs.531330 5016775;5113384;5121664;5124325;5124454;5124593 G19715;RH64865;RH65287;RH66853;RH68216;RH68370 COBW domain-containing protein 2;OTTHUMP00000162049;cobalamin synthase W domain-containing protein 2;cobalamin synthetase W domain-containing protein 2 protein-coding ENSG00000136682 HGNC:17907 16687 611079 VALIDATED 1343748 CBWD3 COBW domain containing 3 ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog); ammonium chloride (ortholog) 9 9 q13 70856839 70914932 + 68241866 68300016 + 6480464 12421752;12477932;15233989;16341674;21890473;21906983;21963094;22505724 445571 F2Z3P0;Q5JTY0;Q5JTY1;Q5JTY2;Q5JTY5;Q5RIB2;S4R432 AK297912;AL353608;AMYH02020917;AMYH02020918;AY344633;BM786305;BU622154;BX509475;FQ976557;HH772028;NM_001291821;NM_201453;XM_005251991;XM_005277637;XM_005277639;XM_005277640;XM_005277641;XM_006717116;XR_254402;XR_428530 AAI72342;AAQ76870;BAG60231;CBX86716;NP_001278750;NP_958861;Q5JTY5;XP_005252048;XP_005277694;XP_005277696;XP_005277697;XP_005277698;XP_006717179 Hs.645337 5016775;5113384;5121664;5124454 G19715;RH65287;RH66853;RH68216 FLJ60409;bA561O23.1 COBW domain-containing protein 3;OTTHUMP00000021409;OTTHUMP00000021410;cobalamin synthase W domain-containing protein 3;cobalamin synthetase W domain-containing protein 3 protein-coding ENSG00000196873 HGNC:18519 611080 VALIDATED 1625817 CBWD7 COBW domain containing 7 ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog); ammonium chloride (ortholog) 9 p12 42671863 42714961 + 6480464 14702039;21890473;21906983;21963094;9847074 728013 A6NM15;H0Y5V3 AC129778;XM_001717050;XM_005272526 A6NM15;XP_001717102;XP_005272583 5016775;5113384;5121664;5124454 G19715;RH65287;RH66853;RH68216 FLJ40320 OTTHUMP00000070163;OTTHUMP00000070164;OTTHUMP00000070165;putative COBW domain-containing protein 7;putative cobalamin synthase W domain-containing protein 7 protein-coding HGNC:31977 1348830 CBWD1 COBW domain containing 1 ENCODES a protein that exhibits ATP binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cadmium dichloride; 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 9 9 p24.3 121038 179077 - 121038 179076 - 6480464;8554872 10867487;10931946;11489251;12421752;12477932;15164053;15233989;15489334;17207965;17353931;21890473;21906983;21963094;22505724;22797925 55871 C9JGY1;F2Z2T4;Q9BRT8 AF212253;AF257330;AK290648;AK297292;AK315855;AL356244;AL449043;AMYH02019022;AY295766;AY320414;AY343911;BC005996;BC009573;BC013432;BC037212;BC132759;BU621970;HH772046;HH772086;HH772092;NM_001145355;NM_001145356;NM_018491;XM_005251513;XM_005251514;XM_005251515;XM_005251516;XM_005251517;XR_428424;XR_428425 AAF68990;AAH05996;AAH09573;AAH13432;AAI32760;AAK14935;AAP73813;AAQ76869;ADQ32099;ADR83148;ADZ15344;BAF83337;BAF98746;BAH12539;CBX86725;CBX86745;CBX86748;NP_001138827;NP_001138828;NP_060961;Q9BRT8;XP_005251570;XP_005251571;XP_005251572;XP_005251573;XP_005251574 Hs.531330;Hs.567539;Hs.645337 5016775;5113384;5121664;5124454 G19715;RH65287;RH66853;RH68216 COBP COBW domain-containing protein 1;COBW-like protein;NPC-A-6 COBW domain-containing protein 1;OTTHUMP00000020950;OTTHUMP00000020951;OTTHUMP00000020953;cobalamin synthase W domain-containing protein 1;cobalamin synthetase W domain-containing protein 1 protein-coding ENSG00000172785 HGNC:17134 16686 611078 VALIDATED 1602602 CBWD6 COBW domain containing 6 ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog); ammonium chloride (ortholog) 9 9 q21.11 69204538 69262593 - 41131309 41189364 - 6480464 12477932;21890473;21906983;21963094;22505724 644019 Q4V339;Q4V340;Q9HAZ6 AF293368;AK293173;AMYH02020843;AMYH02020844;AMYH02020845;BC069006;BX255923;CR627025;HH772008;NM_001085457;XM_006716848;XM_006716849;XM_006716850 AAG10070;BAG56717;CBX86706;NP_001078926;Q4V339;XP_006716911;XP_006716912;XP_006716913 Hs.597638;Hs.645337 5016775;5022578;5095470;5113384;5121664;5124450;5124454 D1S1423;G19715;RH119736;RH12706;RH65287;RH66853;RH68216 DKFZp686L07117;FLJ60409 COBW domain-containing protein 6;OTTHUMP00000069725;OTTHUMP00000069835;cobalamin synthase W domain-containing protein 6;cobalamin synthetase W domain-containing protein 6 protein-coding ENSG00000204790;ENSG00000215126 HGNC:31978 VALIDATED 1601812 CBWD5 COBW domain containing 5 ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog); ammonium chloride (ortholog) 9 9 q21.11 70432004 70490171 - 65675834 65734041 + 6480464 10409428;10867487;12421752;12477932;14702039;16169070;16344560;21890473;21906983;21963094;22505724;8889548;8889549 220869 E7EUZ7;F2Z3P0;H0Y857;O60748;Q5JTY2;Q5RIA9;Q5RIB0;Q5RIB3;Q5RIB5;Q6NVZ8;Q9H2J8 AA039734;AF065414;AF265442;AK097639;AK292585;AMYH02020912;AW450308;BC043420;BC067803;BC082271;BC141856;BG912967;BG943433;BM711778;BU683395;BX284632;CD244615;DA288994;DB463072;NM_001024916;NM_001286835;NM_001286836;NR_104600;XM_005272748;XM_005272749;XM_005272750;XM_005272751;XM_005272754;XM_005272755;XM_006716914;XM_006716915;XR_428503;XR_428504 AAC17121;AAG44700;AAH43420;AAH67803;AAI41857;BAF85274;NP_001020087;NP_001273764;NP_001273765;Q5RIA9;XP_005272805;XP_005272806;XP_005272807;XP_005272808;XP_005272811;XP_005272812;XP_006716977;XP_006716978 Hs.355950;Hs.531330;Hs.635227;Hs.645337;Hs.645504 5016775;5113384;5121664;5124450;5124454 G19715;RH12706;RH65287;RH66853;RH68216 DC36;FLJ34856;FLJ40320;FLJ77192;MGC167043;MGC44166 COBW domain-containing protein 5;COBW-like placental protein;OTTHUMP00000015371;OTTHUMP00000015372;OTTHUMP00000215652;OTTHUMP00000215655;cobalamin synthase W domain-containing protein 5;cobalamin synthetase W domain-containing protein 5;dopamine responsive protein protein-coding ENSG00000147996 HGNC:24584 14134 VALIDATED 4107204 CBX1P2 chromobox homolog 1 pseudogene 2 X X X p22 21237119 21239259 - 17116503 17118680 - 17098380 17100557 - 100147811 ABBA01071511;AL732371;AMYH02038936;NG_007618;NG_012557 pseudo HGNC:38656 INFERRED 1346367 CBWD4P COBW domain containing 4 pseudogene 9 9 q13 70181086 70214885 - 65287480 65321279 - 12421752 445572;653510 AL512605;NG_027949 pseudo HGNC:18520 INFERRED 4107194 CBX1P4 chromobox homolog 1 pseudogene 4 X X X p22.13 21421293 21423494 + 17300474 17302675 + 17282351 17284552 + 100130461 ABBA01071528;ABBA01071529;AL845433;AMYH02038937;NG_007646 pseudo HGNC:38658 INFERRED 4107271 CBX1P1 chromobox homolog 1 pseudogene 1 X X X q11.1 62864393 62866606 - 62517551 62519764 - 63297674 63299885 - 645251 ABBA01066772;AC234780;AL158203;AL365179;AMYH02039590;NG_007614 1689402;1787338 RH93265;SHGC-154811 pseudo HGNC:38655 INFERRED 1348208 CBX1P5 chromobox homolog 1 pseudogene 5 3 3 3 q26.1 164927419 164932273 + 166528617 166530531 + 166810829 166812743 + 100133259 ABBA01058738;AC128686;AMYH02008081;NG_007645;XM_210557 CBX9 APPROVED pseudo HGNC:21006 INFERRED 1321782 CBX1 chromobox homolog 1 This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 42600238 42633237 - 46147414 46178883 - 48070052 48101521 - 6480464;9586744 18436254 10202156;10330177;10460410;10549285;10562550;10747027;10882726;11101528;11242053;11242054;11336697;11790298;11793364;11882902;11959914;12054505;12111331;12414990;12477932;12560554;12560555;12711675;12867029;14585993;14651845;15100215;15120635;15136563;15145825;15200951;15489334;15635413;15899859;15947784;15960974;16127177;16169070;16344560;16415788;16537907;16547356;16615912;16622419;17081983;17314413;17403666;17575412;17962312;18239689;18438399;18590578;18599480;19486527;19615732;19661379;19706462;19759913;20195357;20195544;20231385;20308360;20360068;20498703;20562864;20682794;20923784;20935630;21047797;21139048;21281799;21693764;21888893;21890473;21906983;21988832;22178446;22234250;22318730;22505724;22606318;22615490;22617335;22715096;22815475;22949513;23000965;23077635;23287531;23337132;23536649;23585859;23707759;24244333;24250222;24457600;24561199;24654937;24840329;8287692;9169582;9454751;9636146 10951 B5MD17;C9JWS9;J3KS05;K7ELA4;P83916;Q6IBN6 ABBA01041153;ABBA01041154;ABBA01041155;AC004477;AC006468;AF106801;AK312615;AMYH02033533;AMYH02033534;AMYH02033535;AMYH02033536;AMYH02033537;BC002609;BC021302;CB053834;CH471109;CR456766;DA020204;DA689514;DA781730;DB026977;NM_001127228;NM_006807;U35451 AAB81548;AAD21972;AAH02609;AAH21302;ABZ92300;BAG35502;CAG33047;EAW94758;EAW94759;EAW94760;EAW94761;NP_001120700;NP_006798;P83916 Hs.77254 2109113 CBX1_9202 CBX;HP1-BETA;HP1Hs-beta;HP1Hsbeta;M31;MOD1;p25beta HP1 beta;HP1 beta homolog;OTTHUMP00000197313;OTTHUMP00000197314;OTTHUMP00000197315;OTTHUMP00000197316;chromobox homolog 1 (HP1 beta homolog Drosophila );chromobox protein homolog 1;heterochromatin protein 1 homolog beta;heterochromatin protein 1-beta;heterochromatin protein p25 beta;modifier 1 protein APPROVED protein-coding ENSG00000108468 HGNC:1551 05149 604511 REVIEWED 5490471 CBX3P2 chromobox homolog 3 pseudogene 2 18 18 18 p11.32 2527977 2528486 - 2652169 2655394 - 2652170 2655395 - 12477932 645158 Q8WVE2 ABBA01049833;AMYH02034214;AP005061;BC018088;BX328992;NG_031972;NR_033754 AAH18088 Hs.712861;Hs.741607 pseudo ENSG00000266405 HGNC:42874 VALIDATED 1352044 CBX3 chromobox homolog 3 At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene.[provided by RefSeq, Mar 2011] 7 7 7 p15.2 26230084 26241954 + 26240831 26253227 + 26201211 26213607 + 1580863;6480464;9586744;8554872 18436254 10330177;10460410;10562550;10664448;11101528;11124534;11242053;11336697;11793364;11959914;12004135;12054505;12414990;12477932;12485163;12560555;12690205;14578449;15009096;15120635;15136563;15145825;15200951;15306854;15322135;15489334;15502821;15635413;15882967;16061184;16083285;16127177;16159877;16713569;16945326;16954381;16964243;17065558;17081983;17245432;17314413;17381543;17403666;17468742;17540172;17575412;17962312;18029348;18032920;18160415;18172013;18239689;18618731;18781797;19144645;19322201;19471022;19486527;19615732;19661379;19690169;19738201;19759913;20011120;20176155;20231385;20360068;20562864;20675861;20695923;20923784;20936779;21047797;21139048;21145461;21220418;21252314;21358630;21549307;21596310;21784059;21865325;21875947;21888893;21890473;21906983;21907836;21963094;22178446;22234250;22318730;22325352;22505724;22514736;22586326;22615490;22684280;22863883;22870217;22939629;22990118;23000965;23077635;23166591;23287531;23313480;23522301;23829974;24163370;24244333;24457600;24583282;24654937;24816145;8663349;9169472;9454751;9636146;9636147;9864353 11335 A4D177;B8ZZ43;C9JMM0;Q13185;S4R2Y4 AB030905;ABBA01056745;AC010677;AF136630;AL542267;AMYH02015390;AMYH02015391;BC000954;BC014380;BX647444;BX648807;CD514780;CH236948;CH471073;CV575477;DB565723;NM_007276;NM_016587;U26312;XM_005249611;XM_005249612 AAB48101;AAF62370;AAH00954;AAH14380;ACE86685;ACE87369;BAA83340;EAL24235;EAW93842;EAW93843;EAW93844;EAW93845;EAW93846;NP_009207;NP_057671;Q13185;XP_005249668;XP_005249669 Hs.381189 1696692;1735656;1857592;2170890;2184022;5124411 D7S2103E;HSC11F052;RH24974;SHGC-57830;SHGC-83036;STS-H78370 HECH;HP1-GAMMA;HP1Hs-gamma HP1 gamma homolog;OTTHUMP00000122519;OTTHUMP00000122520;OTTHUMP00000202463;chromobox homolog 3 (HP1 gamma homolog, Drosophila);chromobox protein homolog 3;heterochromatin protein 1 homolog gamma;heterochromatin protein HP1 gamma;heterochromatin-like protein 1;modifier 2 protein APPROVED protein-coding ENSG00000122565 HGNC:1553 05130 604477 REVIEWED 5490499 CBX3P5 chromobox homolog 3 pseudogene 5 12 12 12 95350991 95351509 - 95680096 95680614 - 95286320 95286838 - 100421943 ABBA01053339;AC084879;AMYH02026971;NG_024039;NG_028987 pseudo HGNC:42877 INFERRED 5490501 CBX3P3 chromobox homolog 3 pseudogene 3 5 5 5 108058926 108059472 - 112113340 112113886 - 112777643 112778189 - 100421861 ABBA01069053;AC136500;AMYH02011977;NG_024619 pseudo HGNC:42875 INFERRED 5490490 CBX3P7 chromobox homolog 3 pseudogene 7 11 11 11 85604526 85605028 + 89026912 89027414 - 89293744 89294246 - 100421975 ABBA01011523;AMYH02025268;AP000720;NG_024399 1847356;2119613;2190379;7188805 D11S3987;D11S870-D11S1326;RH69108 pseudo HGNC:42879 INFERRED 5490502 CBX3P8 chromobox homolog 3 pseudogene 8 11 11 11 p11.12 49578243 49578767 + 49427742 49428266 + 49406190 49406714 + 100286965 ABBA01060667;AC135977;AMYH02024764;NG_021817 1847356;2119613;2218128 D11S3987;RH69108;TYR_3880 pseudo HGNC:42880 INFERRED 6481556 CBX3P4 chromobox homolog 3 pseudogene 4 12 12 2896458 2896748 - 2787292 2787582 - 100873792 ABBA01048801;AC005841;AMYH02025885;NG_032536 pseudo HGNC:42876 INFERRED 4107291 CBX1P3 chromobox homolog 1 pseudogene 3 1 1 1 q32.1 177058891 177062522 + 203923526 203927157 + 203954398 203958029 + 100128723 ABBA01027462;AC096645;AMYH02002523;NG_007647 pseudo HGNC:38657 INFERRED 5490505 CBX3P6 chromobox homolog 3 pseudogene 6 2 2 2 q24.1 149410573 149411099 - 155797053 155797579 - 154940541 154941067 - 642721 ABBA01004821;AC093112;AMYH02005019;NG_021530 pseudo HGNC:42878 INFERRED 5490504 CBX3P9 chromobox homolog 3 pseudogene 9 6 6 6 q22.1 117517247 117517795 - 116774180 116774728 - 116453017 116453565 - 644101 ABBA01026046;AMYH02014353;NG_022324;Z84488 pseudo HGNC:42881 INFERRED 4107152 CBX5P1 chromobox homolog 5 pseudogene 1 3 3 3 p11.1 88898633 88899355 - 88144432 88145154 - 88095282 88096004 - 100151661 ABBA01004633;AC119733;AMYH02007220;NG_007668 pseudo HGNC:38659 INFERRED 1342823 CBX2 chromobox homolog 2 This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010] 17 17 17 q25.3 74346955 74386998 + 77751977 77761449 + 79778178 79787650 + 1580863;6480464;7240710;8554872;9479058;9479060;8699517;9586732;9586734;9586730 23219007;23473600;24885002;25065329;9641679 10369680;12167701;12477932;1352241;15146197;16189514;1898775;19060904;19107218;19361780;19636380;21047797;21282530;21383063;22009739;22325352;22419124;22632162;23667531;24250222;24457600;2477932;2903050;3081265;7782071 84733 Q14781 ABBA01013830;AC105337;AL157459;AMYH02034090;BC004252;BC119759;BC119760;BX110913;CH471099;CN367085;CN367087;CN367098;CV815254;DB452048;NG_016986;NM_005189;NM_032647;X77824;X77825;XM_006722140 AAH04252;AAI19760;AAI19761;AAI56119;AAI57075;ABZ92071;CAA54839;EAW89568;EAW89569;NP_005180;NP_116036;Q14781;XP_006722203 Hs.368410 1668021;1683385;1749321;1771246;2110557 MGC10561__7656;RH47739;RH66799;RH93970;SHGC-111083 CDCA6;M33;MGC10561;SRXY5 M33 polycomb-like;Pc class homolog;cell division cycle associated 6;chromobox homolog 2 (Pc class homolog, Drosophila);chromobox protein homolog 2;modifier 3 APPROVED protein-coding ENSG00000173894 HGNC:1552 14397 602770;613080 REVIEWED 2291773 CBX3P1 chromobox homolog 3 pseudogene 1 11 11 11 p14.1 27973976 27976174 + 27827864 27830105 + 27806317 27808558 + 10763413 159770 ABBA01060966;AC103796;AF063304;AMYH02024508;NG_001315 pseudo HGNC:33950 INFERRED 1348844 CBX4 chromobox homolog 4 ENCODES a protein that exhibits enzyme binding; SUMO binding; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-templated; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Carcinoma, Hepatocellular; Neoplasm Metastasis; FOUND IN nucleus; PcG protein complex; PRC1 complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenite(3-); atrazine 17 17 17 q25.3 74433438 74439695 - 77806955 77813222 - 79833156 79839414 - 1580863;6480464;9586739;9479058;9479060;9586738;8554872 23473600;23943028;24838576;25065329 11583618;12101246;12167701;12477932;12679040;12700765;12829790;14638676;15175327;15231748;15489334;15563468;15592428;15710417;16009940;16061479;16169070;17018294;17081983;17087506;17332741;17428788;17439403;18029348;18178578;18408014;18453536;18567530;18781797;19336002;19454010;19471022;19636380;19933700;20351170;20361981;21145359;21252943;21256122;21282530;21288202;21549310;21693764;21885019;21906983;22028491;22078878;22325352;22467880;22797925;22825850;22889411;22897849;23000965;23667531;24163370;24434214;24457600;24654937;24912682;9199346;9315667;9367786;9858531;9858600 8535 F8WCW6;I3L4F1;O00257 ABBA01013826;ABBA01013827;ABBA01013828;AC100791;AF013956;AI796748;AMYH02034091;AMYH02034092;AMYH02034093;AY390430;BC014967;BG029608;BQ225831;CH471099;EU439707;NM_003655;U94344 AAB62734;AAB80718;AAH14967;AAQ97596;ACA49234;EAW89572;EAW89573;NP_003646;O00257 Hs.405046 1658988 RH78479 NBP16;PC2;hPC2 E3 SUMO-protein ligase CBX4;NS5ATP1-binding protein 16;OTTHUMP00000197308;OTTHUMP00000197309;Pc class 2 homolog;chromobox homolog 4 (Pc class homolog, Drosophila);chromobox protein homolog 4;polycomb 2 homolog APPROVED protein-coding ENSG00000141582 HGNC:1554 04357 603079 VALIDATED 1316437 CBX6 chromobox homolog 6 ENCODES a protein that exhibits single-stranded RNA binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Glioblastoma; FOUND IN nucleus; PcG protein complex; INTERACTS WITH atrazine; cobalt dichloride; cyclosporin A 22 22 22 q13.1 23066901 23074916 - 39257468 39268258 - 38861463 38872292 - 1580863;6480464;9479058;9479060;9587354 23473600;24260522;25065329 10591208;12477932;14702039;15203218;15489334;19322201;20211142;20972438;21047797;21139048;21282530;21890473;21906983;22325352;23000965;23503679;24163127;24457600 23466 B0QXZ6;O95503 ABBA01055539;AK094829;AK293035;AL008583;AMYH02038368;BC012111;BC064900;CD625491;CH471095;HI574266;NM_014292;XM_005261412 AAH12111;AAH64900;ABM84593;ABM86713;BAF85724;BAG52939;CBX47622;EAW60276;NP_055107;O95503;XP_005261469 Hs.592201 1784504;2187319 SHGC-144773;STS-R45141 OTTHUMP00000197412;OTTHUMP00000197413;chromobox protein homolog 6 protein-coding ENSG00000183741 HGNC:1556 13005 VALIDATED 1353483 CBX7 chromobox homolog 7 ENCODES a protein that exhibits chromatin binding (inferred); methylated histone binding (inferred); single-stranded RNA binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Adenocarcinoma of lung; Adenocarcinoma, Clear Cell; Carcinoma, Hepatocellular; FOUND IN cytoplasm; nuclear chromatin; nucleus; INTERACTS WITH all-trans-retinoic acid; arsenous acid; benzo[a]pyrene 22 22 22 q13.1 23328820 23350581 - 39526777 39548661 - 39130772 39152656 - 1580863;6480464;9479058;9479060;9587354;9587359;9587361;9587355;9587357;9586729;9587356;9587360;9587358 18701502;18984978;19706751;20185297;20723236;22041561;22214847;23473600;24260522;24375438;25065329 10369680;10591208;12477932;14647293;15489334;15897876;16537902;17374722;18686603;19636380;20541999;20542683;21047797;21060834;21282530;21988832;22226354;23955597;24250222;24457600 23492 B0QYP2;B0QYP3;O95931 ABBA01055551;AL031846;AMYH02038373;AMYH02038374;BC051773;BC128418;CH471095;DQ064603;NM_175709;XM_005261413;XM_006724174;XM_006724175;XM_006724176;XM_006724177;XM_006724178 AAH51773;AAY68391;ABZ92314;EAW60297;EAW60298;EAW60299;EAW60300;EAW60301;NP_783640;O95931;XP_005261470;XP_006724237;XP_006724238;XP_006724239;XP_006724240;XP_006724241 Hs.356416 2133587;2165405 A003A08;HSC0XA102 OTTHUMP00000197317;OTTHUMP00000197318;OTTHUMP00000197319;chromobox protein homolog 7 protein-coding ENSG00000100307 HGNC:1557 12234 608457 VALIDATED 1315340 CBX5 chromobox homolog 5 This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 54276743 54325894 - 54624730 54673915 - 54230946 54280131 - 1580863;6480464;9586744;9586743;9479074;8554872 18436254;22900142;23642229 10330177;10460410;10549285;10562550;10699177;10882726;10938122;11112778;11242053;11242054;11313457;11336697;11484059;11516652;11793364;11799066;11942629;11959914;12054505;12154074;12242305;12411497;12414990;12477932;12485163;12560555;12565857;12692243;12697822;12711603;12867029;14585993;14702039;14730304;15120635;15145825;15196694;15200951;15231747;15306854;15342556;15454574;15485920;15489334;15502821;15635413;15723802;15849318;15882967;15899859;16127177;16177824;16189514;16487625;16622419;16648629;16687578;16751776;16762841;16945326;17081983;17101789;17213182;17314413;17381543;17403666;17470536;17540172;17698499;17884155;17962312;18029348;18264112;18648073;18676401;18809684;19352502;19471022;19479850;19486527;19498464;19566924;19567367;19617346;19661379;19666599;19783980;19880879;20011120;20049717;20080105;20110566;20154359;20231385;20421743;20498703;20562864;20695923;20923784;21029866;21047797;21139048;21199919;21209461;21346195;21364188;21374739;21383955;21693764;21704408;21875947;21888893;21890473;21900206;21906983;21988832;22139419;22205726;22234250;22318730;22496453;22505724;22615490;22922742;22939629;23000965;23028349;23077635;23142018;23142645;23281010;23287531;23392382;23602568;23645696;23803414;24018422;24250222;24415761;24561205;24583282;24816145;24821728;24840329;8505380;8663349;8864858;9169472;9454751;9636146;9636147;9864353 23468 F8VNY3;P45973;V9HWG0 ABBA01008366;ABBA01008367;ABBA01008368;ABBA01008369;AC078778;AF147443;AK023520;AK055641;AK056315;AK095108;AK313506;AMYH02026532;AMYH02026533;AMYH02026534;BC006821;BC030149;BC047432;BP236173;BP336150;CH471054;CR457418;DT217255;EU794599;L07515;NM_001127321;NM_001127322;NM_012117;S62077;U26311 AAA72327;AAB26994;AAC50553;AAH06821;ABZ92153;ABZ92313;ACJ13653;BAG36286;CAG33699;EAW96758;EAW96759;EAW96760;NP_001120793;NP_001120794;NP_036249;P45973 Hs.349283 1669118;1670078;1677746;1684200;1686458;1697452;1777604;2140199;2175784;2177575;5014051;5015879;5022200;5022450;5022651;5024761;5037552;5109281;7186698 D10S275;D11S2921;D12S110E;D12S1966;D1S1425;D8S2278;D8S2279;GDB:314949;L18426;RH102227;RH36905;RH64861;RH68193;RH93620;SGC34021;STS-Z40708;WI-12071;WI-15869 HEL25;HP1;HP1A HP1 alpha;HP1 alpha homolog;HP1-ALPHA;HP1Hs alpha;OTTHUMP00000241878;OTTHUMP00000241879;OTTHUMP00000241880;OTTHUMP00000241881;antigen p25;chromobox homolog 5 (HP1 alpha homolog, Drosophila);chromobox protein homolog 5;epididymis luminal protein 25;heterochromatin protein 1 homolog alpha;heterochromatin protein 1-alpha APPROVED protein-coding ENSG00000094916 HGNC:1555 05131 604478 REVIEWED 1605449 CBY3 chibby homolog 3 (Drosophila) 5 5 5 q35.3 174729963 174732379 - 179105559 179107975 - 179678558 179681378 - 6480464 15372022;24250222 646019 A6NI87 ABBA01010031;AC136604;AMYH02012885;BX110582;NM_001164444;XM_006714913 A6NI87;NP_001157916;XP_006714976 Hs.535767 1656257 STS-H08168 OTTHUMP00000223233;protein chibby homolog 3 protein-coding ENSG00000204659 HGNC:33278 VALIDATED 1345009 CCA1 cataract, congenital, cerulean type, 1 ASSOCIATED WITH Cerulean cataract (inferred) 7240710 7704021 878 HGNC:1559 115660 1343969 CBY1 chibby homolog 1 (Drosophila) Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12 22859330 22876528 + 39052658 39069859 + 38656653 38673850 + 1580863;6480464 10591208;11230166;11337467;12477932;12529303;12712206;15194699;15203218;15245581;15461802;15489334;16570344;16713569;17403895;17905836;18573912;18663750;18818748;19019335;19435523;19527514;19940019;20096688;20140262;21182262;22094256;22911743;23645032;23707389;23838289;24250222 25776 B0QY53;B0QY54;Q9Y3M2 AB015347;AB111855;ABBA01055529;ABBA01055530;AF331041;AK307265;AK311928;AL021707;AL050345;AL136686;AMYH02038361;AU099418;BC008839;BC016139;BK005534;CD626926;CD702742;CH471095;CR456410;NM_001002880;NM_015373 AAH16139;AAL56062;ADR82759;BAA88119;BAC78839;BAG34869;CAB43547;CAB66621;CAG30296;DAA05582;EAW60254;EAW60255;EAW60256;NP_001002880;NP_056188;Q9Y3M2 Hs.334911;Hs.744261 1670147;2109645 PGEA1_9407;RH41824 C22orf2;CBY;HS508I15A;PGEA1;PIGEA-14;PIGEA14;arb1 ARPP-binding protein;OTTHUMP00000198875;OTTHUMP00000198876;OTTHUMP00000198878;PKD2 interactor, Golgi and endoplasmic reticulum-associated 1;PKD2 interactor, golgi and endoplasmic reticulum associated 1;chibby CTNNB1-mediated transcription inhibitor;coiled-coil protein PIGEA-14;cytosolic leucine-rich protein;polycystin-2 interactor, Golgi- and endoplasmic reticulum-associated protein, 14 kDa;protein chibby homolog 1 APPROVED protein-coding ENSG00000100211 HGNC:1307 09676 607757 REVIEWED 2289739 CC2D2A coiled-coil and C2 domain containing 2A This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 4 4 4 p15.32 15935348 16067126 + 15471489 15603594 + 15469865 15601971 + 6480464;7240710;8554872;8699517 10718198;12477932;14702039;16344560;18387594;18513680;18950740;19068953;19574260;19777577;20301500;20301743;20585324;21068128;21906983;22023432;22241855;23251661 57545 D6R9V3;H0Y941;Q9P2K1 AA441801;AB037766;ABBA01032570;ABBA01032571;AC007016;AC116651;AI376394;AK023876;AK025543;AK096047;AK309178;AMYH02008798;BC053865;BC061921;BC070395;BC103710;BX647334;CF528984;CH471069;DA860072;DB043556;EU450799;KF510860;N35522;NG_013035;NM_001080522;NM_001164720;NM_020785;XM_005248177;XM_005248179;XM_006713970 AAI03711;ACC96081;BAA92583;BAB14710;BAG10039;EAW92734;NP_001073991;NP_001158192;NP_065836;Q9P2K1;XP_005248234;XP_005248236;XP_006714033 Hs.590928 1667263;1690916;1698580;1708220;2155400;2160963;2182599;5022322;5037552 D11S2560;D4S310;D8S2279;RH102842;RH92883;SHGC-24584;SHGC-67237;SHGC-79369;WI-22664 JBTS9;KIAA1345;MKS6 OTTHUMP00000217872;OTTHUMP00000217873;OTTHUMP00000217875;OTTHUMP00000217876;OTTHUMP00000217877;OTTHUMP00000217879;OTTHUMP00000217881;coiled-coil and C2 domain-containing protein 2A APPROVED protein-coding ENSG00000048342 HGNC:29253 216360;612013;612284;612285 REVIEWED 1345688 CCAL1 chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis) ASSOCIATED WITH Chondrocalcinosis 1 (inferred) 7240710 7887424 882 HGNC:1561 600668 1606546 CC2D1A coiled-coil and C2 domain containing 1A This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009] 19 19 19 p13.12 13910701 13935438 + 14016956 14041693 + 13906143 13930880 + 6480464;7240710;8699517;8554872 12477932;12761501;14569116;14702039;14756806;15489334;15534042;15592455;16033914;16051665;16344560;16730941;16964243;17084358;17394259;17535813;17714190;18029348;18662999;18806297;19056867;19946888;19948489;20171170;20205790;20392296;20467438;20529849;21189260;21274377;21900206;22023432;22258254;22328058;22406677;22833682;22944692;24250222;24816145 54862 K7EJY5;K7EMP1;Q6P1N0 AB097002;ABBA01029706;AC020916;AF536205;AK000248;AK023399;AK026371;AK123155;AK315068;AMYH02035592;AMYH02035593;AMYH02035594;BC006556;BC048345;BC064981;BC113968;BP395853;CH471106;DB065701;NG_013089;NM_017721;XM_005259972;XM_005259973;XM_005259974;XM_005259975 AAH48345;AAH64981;AAI13969;AAN04488;BAA91029;BAB14561;BAB15464;BAC77355;EAW84380;NP_060191;Q6P1N0;XP_005260029;XP_005260030;XP_005260031;XP_005260032 Hs.269592 1339087;1701390;5014467;5016808;5021872;5022651 D11S2921;D19S840;GDB:313557;RH104325;RH80706;sY3084 FLJ20241;FLJ41160;FREUD-1;Freud-1/Aki1;MRT3 Akt kinase-interacting protein 1;FRE under dual repression-binding protein 1;coiled-coil and C2 domain-containing protein 1A;five prime repressor element under dual repression-binding protein 1;five repressor element under dual repression-binding protein 1;mental retardation, nonsyndromic, autosomal recessive, 3;putative NF-kappa-B-activating protein 023N;putative NFkB activating protein APPROVED protein-coding ENSG00000132024 HGNC:30237 08616 608443;610055 REVIEWED 1603884 CC2D1B coiled-coil and C2 domain containing 1B ENCODES a protein that exhibits 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 negative regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; quercetin 1 1 1 p32.3 51102961 51118558 - 52816265 52831877 - 52350593 52366205 - 6480464 11347906;12477932;14702039;15146197;17084357;17084358;19423080;22779921;22863883;24250222;24960163;8889548 200014 H0Y517;H7C1U3;Q5T0F9 AB058739;ABBA01074775;AK093605;AK095487;AK130874;AL513218;AMYH02001018;BC007912;BC014080;BC016880;BC039308;BM975102;BQ073406;BX337298;CH471059;CN279193;DB458797;NM_032449;XM_005270590;XM_005270591;XM_005270593;XM_006710422;XM_006710423 AAH07912;AAH16880;AAH39308;BAB47465;BAC85450;EAX06785;EAX06786;EAX06787;EAX06788;EAX06789;NP_115825;Q5T0F9;XP_005270647;XP_005270648;XP_005270650;XP_006710485;XP_006710486 Hs.591451 1667119;1739879;1854654;2139176;2156012;5022578 A005E48;D1S1423;D1S2354;D1S2512;D1S3534;SHGC-74828 KIAA1836;RP11-155O18.2 FRE under dual repression-binding protein 2;OTTHUMP00000009793;OTTHUMP00000009794;OTTHUMP00000009795;OTTHUMP00000009796;coiled-coil and C2 domain-containing protein 1B;five prime repressor element under dual repression-binding protein 2;freud-2 protein-coding ENSG00000154222 HGNC:29386 12393 VALIDATED 1351003 CBX8 chromobox homolog 8 ENCODES a protein that exhibits methylated histone binding; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Esophageal Squamous Cell Carcinoma; Glioblastoma; FOUND IN nuclear chromatin; nucleus; PcG protein complex; INTERACTS WITH arsenite(3-); copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q25.3 74393725 74396464 - 77768176 77770915 - 79794377 79797116 - 1580863;6480464;9479058;9479060;9587354;9587436 23473600;24260522;25065329;25197352 10825164;11313972;11439343;12167701;12477932;14702039;15009096;15489334;15856011;16169070;17332741;17936708;18029348;19471022;19636380;20431927;20601937;21047797;21282530;22094252;22325352;22990118;23474493;23891621;24457600;24816145 57332 C9J6K3;C9JM54;Q9HC52 ABBA01013830;AC100791;AF174482;AF266479;AK074560;AMYH02034090;BC008937;BC009376;BC019289;CH471099;NM_020649 AAF76328;AAG09180;AAH08937;AAH09376;AAH19289;ABZ92360;BAC11061;EAW89571;NP_065700;Q9HC52 Hs.387258 1338093;7186736 D20S196;D20S887 HPC3;PC3;RC1 OTTHUMP00000197310;OTTHUMP00000197311;OTTHUMP00000197312;Pc class 3 homolog;chromobox homolog 8 (Pc class homolog, Drosophila);chromobox protein homolog 8;polycomb 3;rectachrome 1 APPROVED protein-coding HGNC:15962 13006 VALIDATED 7247298 CCAT2 colon cancer associated transcript 2 (non-protein coding) 8 q24.21 127400399 127402150 + 17401363;17618284;18264096;18264097;18372905;21242260;21743057;23266556;23796952;24077681;24504682 101805488 ABBA01037942;AC018714;AMYH02018756;GQ911591;GQ911592;NR_109834 Hs.745578 LINC00873;NCCP1 ncrna HGNC:47044 VALIDATED 1349229 CCAT cataract, congenital 880 HGNC:1563 1321297 CC2D2B coiled-coil and C2 domain containing 2B 10 10 10 q24.1 91501058 91533652 + 97721331 97793496 + 95938103 96033739 + 12477932;14702039;15164054;15489334;16344560;16385451 387707 B7ZBR7;B7ZBX6;Q6DHV5;Q6ZW91 ABBA01021832;AK022203;AK302377;AL356155;AL513355;AMYH02023584;BC075861;CH471066;DB026257;NM_001001732;NM_001159747;XM_006717833;XM_006717834 AAH75861;BAG63696;EAW49985;NP_001001732;NP_001153219;Q6DHV5;XP_006717896;XP_006717897 Hs.538374;Hs.652240 2161533 D10S1449 C10orf130;FLJ12141;bA248J23.4 OTTHUMP00000020164;OTTHUMP00000205754 protein-coding ENSG00000188649 HGNC:31666 16578 VALIDATED 1605357 CCAR2 cell cycle and apoptosis regulator 2 ENCODES a protein that exhibits enzyme binding; enzyme inhibitor activity; poly(A) RNA binding; INVOLVED IN mitochondrial fragmentation involved in apoptotic process; negative regulation of catalytic activity; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; DBIRD complex; mitochondrial matrix; INTERACTS WITH bis(2-chloroethyl) sulfide; menadione; valproic acid 8 8 8 p22 21423997 21439838 + 22462145 22477984 + 22604632 22620471 + 6480464;8554872 11076863;11230166;11256614;11853319;12370419;12477932;12938929;14676191;14702039;14743216;15302935;15345747;15489334;15489336;15824730;16344560;16381901;17081983;17266347;17314511;17332742;17353931;17473282;17643375;17660530;18235501;18235502;18418069;19126541;19131338;19218236;19471022;19509139;19657230;19738201;20020773;20070850;20071779;20074560;20160719;20360068;20479123;20562859;21030595;21081666;21139048;21145461;21252943;21890473;21906983;21963094;21987572;22127596;22145905;22190034;22365833;22446626;22505724;22553202;22586326;22623428;22735644;22751105;22863883;22939629;23000965;23349634;23352644;23588592;23667531;23752268;23841676;23874603;23892437;24018803;24019980;24126058;24129246;24147044;24231951;24332808;24415752;24583282;24657165;24816145;25027693 57805 E5RFJ3;E5RGU7;E5RHH8;E5RHJ4;G3V119;H0YB24;H0YC58;H0YC69;Q8N163 AB075847;ABBA01005525;ABBA01005526;AC037459;AF293335;AK022661;AK095712;AK096547;AK314535;AL137523;AL834162;AL834351;AL834352;AMYH02017594;BC003172;BC018269;BC065495;BI561261;BX390251;BX640952;CH471080;DA110888;DA721640;HD117867;HH735892;NM_021174;NR_033902 AAG02472;AAH18269;AAH65495;BAB14163;BAB85553;BAG37126;BAG53111;CAB70788;CAD38866;CAD39016;CAD39017;CAE45976;CAL37584;CAL38698;CBW53721;CBX74356;EAW63658;EAW63659;EAW63660;EAW63661;EAW63662;NP_066997;Q8N163 Hs.744848 1688110;1698432;1699706;1700144;1701274;2118441;2152812;2191355 MARC_17851-17852:1025010471:1;RH102761;RH103458;RH103685;RH104266;RH48987;RH79699;STS-H96791 DBC-1;DBC.1;DBC1;KIAA1967;NET35;p30 DBC;p30DBC DBIRD complex subunit KIAA1967;OTTHUMP00000225106;OTTHUMP00000225109;cell cycle and apoptosis regulator protein 2;cell division cycle and apoptosis regulator protein 2;deleted in breast cancer 1;deleted in breast cancer gene 1 protein APPROVED protein-coding ENSG00000158941 HGNC:23360 09159 607359 VALIDATED 1345566 CCAR1 cell division cycle and apoptosis regulator 1 ENCODES a protein that exhibits ligand-dependent nuclear receptor transcription coactivator activity; poly(A) RNA binding; INVOLVED IN apoptotic process (inferred); gene expression (inferred); mRNA splicing, via spliceosome (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); nucleoplasm (inferred); INTERACTS WITH curcumin; doxorubicin; emetine 10 10 10 q21.3 63756894 63827219 + 70480956 70552134 + 68721144 68792377 + 737633;1580863;6480464;8554872 12477932 12226669;12816952;14702039;14743216;15069192;15164054;15302935;15489334;16341674;16344560;16385451;16543231;16712791;17081983;17332742;17513614;18029348;18157088;18321953;18382127;18655026;18722177;18854154;19073175;19460752;19471022;19520846;20360068;20562859;21139048;21693764;21890473;21903591;22266316;22365833;22586326;22905258;22990118;23184937;23246001;23975424;24816145;25027693 55749 F5H1H2;F5H1L3;F5H2E6;F5H3E1;F5H3I8;F5H7M9;F5H808;H0YFJ7;H0YFT7;Q8IX12 ABBA01019587;ABBA01019588;ABBA01019589;ABBA01019590;AF465616;AK000741;AK001701;AK023438;AK122871;AK292649;AK298004;AK299307;AK307550;AK307671;AK307704;AL391539;AL513534;AMYH02023262;AMYH02023263;AY249140;BC015475;BC026036;BC058846;BC089420;BC108682;BC130626;BC132725;BC144118;BM786237;BM905703;BU181074;BU617955;BX647943;CB136079;CH471083;DA511293;DB636717;HI574014;NM_001282959;NM_001282960;NM_018237;NR_104262 AAH15475;AAH26036;AAH89420;AAI08683;AAI30627;AAI32726;AAO17319;AAP82002;BAA91354;BAA91847;BAB14574;BAF85338;BAG60310;BAG61320;CBX47496;EAW54300;EAW54301;EAW54302;NP_001269888;NP_001269889;NP_060707;Q8IX12 Hs.49853 1688300;1769696 D10S1418;RH98330 MGC44628;RP11-437A18.1 OTTHUMP00000019709;OTTHUMP00000236721;OTTHUMP00000236724;OTTHUMP00000236725;cell cycle and apoptosis regulatory protein 1;cell division cycle and apoptosis regulator protein 1;death inducer with SAP domain protein-coding ENSG00000060339 HGNC:24236 10811 612569 VALIDATED 7241106 CCAT1 colon cancer associated transcript 1 (non-protein coding) 8 8 q24.21 128219629 128231333 - 127207382 127219268 - 14702039;21547902;23143645;23416875;23594791;24594601 100507056 ABBA01037941;AC020688;AC027531;AK125310;AMYH02018752;HM358356;HY180930;HY370674;JX003870;NR_108049 Hs.343864 2134211 SHGC-34702 CARLo-5 ncrna HGNC:45128 VALIDATED 1604249 CCDC101 coiled-coil domain containing 101 CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010] 16 16 16 p11.2 27603201 27638545 - 28565249 28603111 + 28553928 28591790 + 6480464;9587455;9479148;9479074;8554872 21441570;23642229;24035451 12477932;14702039;15489334;15932940;16189514;17334388;18838386;19615732;19915574;20360068;20508642;21139048;21685874;21746879;22939629;23044487;23894581;24816145;8889549 112869 H3BN84;H3BPL5;Q96ES7 AA132314;AA132818;ABBA01043647;AC020765;AK057008;AMYH02031793;AMYH02031794;BC011981;CH471279;NM_138414 AAH11981;BAB71340;EAW52272;NP_612423;Q96ES7 Hs.655476 1676500;1678517;2116432;2191613 MARC_27514-27515:1034369541:3;RH70266;RH80061;SHGC-60826 FLJ32446;SGF29;STAF36 OTTHUMP00000162566;SAGA-associated factor 29 homolog;coiled-coil domain-containing protein 101 APPROVED protein-coding ENSG00000176476 HGNC:25156 13996 613374 VALIDATED 1349047 CCBE1 collagen and calcium binding EGF domains 1 This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010] 18 18 18 q21.32 53815992 54082692 - 57098171 57364860 - 59430939 59697838 - 6480464;7240710;8554872;8699517 11853319;12477932;12975309;14702039;18466450;18519826;19287381;19911200;19935664;19935792;20379614;21778431;21988832;22239599;23857890;24086631;24552833 147372 K7EQ81;Q6UXH8 AB075863;ABBA01056169;AC010776;AC016229;AC090213;AF087966;AK055243;AMYH02034830;AMYH02034831;AMYH02034832;AMYH02034833;AMYH02034834;AY358347;BC046645;BF434122;BF515087;BX640826;CH471096;CX782134;EY892390;HC883734;NG_016990;NM_133459;XM_005266648;XM_005266649;XM_006722393 AAH46645;AAQ88713;BAB85569;CAE45902;CBM42919;EAW63100;EAW63101;NP_597716;Q6UXH8;XP_005266705;XP_005266706;XP_006722456 Hs.34333 1700528;1707442;1718315;1730331;1738467;1761379;1774429;1783734;2140304;2146051;5014051;5015861;5016478;5016781;5021872;5022651;5037552;7185938 D10S16;D11S2921;D17S1644E;D18S1003;D8S2278;D8S2279;GDB:434012;RH103885;RH122929;RH16234;SHGC-145395;SHGC-155286;SHGC-34476;SHGC-67307;SHGC-84515;STS-H68552;sY3084 FLJ30681;HKLLS1;MGC50861 collagen and calcium-binding EGF domain-containing protein 1;full of fluid protein homolog APPROVED protein-coding ENSG00000183287 HGNC:29426 08703 235510;612753 REVIEWED 1344849 CCDC102B coiled-coil domain containing 102B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (+)-catechin; arsenous acid; diarsenic trioxide 18 18 18 q22.1 63229092 63570133 + 66382466 66756517 + 68715209 69089280 + 6480464;8554872 12477932;14702039;15489334;16344560;1707030;20379614;24124411;24250222;24722188;8125298 79839 A1A4H1;C9JV39;J3KRG3;J3KRT2;J3QL62;J3QLG6;Q68D86 ABBA01056275;ABBA01056276;ABBA01056277;AC011087;AC022035;AC040896;AC096708;AK027247;AK057282;AK091108;AK225597;AK308114;AL833863;AMYH02034919;AMYH02034920;AMYH02034921;AMYH02034922;AMYH02034923;BC056269;BC126448;BC126450;BQ003970;CH471117;CK823962;CR749520;DB020599;DC380577;DC382329;NM_001093729;NM_024781;XM_005266764;XM_005266765;XM_005266768;XM_006722542;XM_006722543;XM_006722544;XM_006722545;XM_006722546;XR_430083;XR_430084;XR_430085 AAH56269;AAI26449;AAI26451;BAB15706;CAD38721;CAH18334;EAW66511;EAW66512;NP_001087198;NP_079057;Q68D86;XP_005266821;XP_005266822;XP_005266825;XP_006722605;XP_006722606;XP_006722607;XP_006722608;XP_006722609 Hs.280781 1337649;1664777;1668298;1676948;1708388;1708518;1709936;1722647 D18S1313;D18S466;G60407;RH80679;SHGC-82233;SHGC-82876;SHGC-85034;STS-AA029428 ACY1L;AN;C18orf14;DKFZp434K1426;DKFZp686I08254;FLJ23594;HsT1731;MGC161726;MGC161728 OTTHUMP00000163692;aminoacylase 1-like;coiled-coil domain-containing protein 102B protein-coding ENSG00000150636 HGNC:26295 08038 VALIDATED 1606260 CCBL2 cysteine conjugate-beta lyase 2 This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid. Kynurenic acid is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5' exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [provided by RefSeq, Jun 2009] 1 1 1 p22.2 87647258 87704434 - 89401456 89458643 - 88935773 88992960 - 6480464;6907045;8554872 10441733;11181995;12477932;14702039;16169070;16376499;19165527;20379614;20877624;21139048;21145461;21492941;21890473;21906983;22001757;24250222;24778252;24816145;8889548 56267 B4DW13;Q6YP21 ABBA01045589;ABBA01045590;ABBA01045591;AF091090;AI478599;AK057176;AK301326;AK315917;AL445991;AL833593;AMYH02001432;AMYH02001433;AY028624;BC000819;BM728982;CH471097;CR450282;CR627392;DC424120;NM_001008661;NM_001008662 AAC72959;AAH00819;AAK26163;BAG51875;BAG62875;BAH14288;CAG29278;CAH10487;EAW73154;EAW73157;EAW73158;NP_001008661;NP_001008662;Q6YP21 Hs.481898 1690105;2122473;2163921;2185571;2186878;5016596 A004S46;GDB:631802;RH93455;SHGC-35041;SHGC-75110;SHGC-75112 DKFZp547N1117;DKFZp667D0223;KAT3;KATIII;MGC9398;RBM1;RBMXL1;RP11-82K18.3;RP4-531M19.2 OTTHUMP00000012357;OTTHUMP00000012359;cysteine-S-conjugate beta-lyase 2;kynurenine aminotransferase III;kynurenine--glyoxylate transaminase;kynurenine--oxoglutarate transaminase 3;kynurenine--oxoglutarate transaminase III;kynurenine-oxoglutarate transaminase 3 APPROVED protein-coding ENSG00000137944 HGNC:33238 13752 610656 REVIEWED 1602038 CCDC103 coiled-coil domain containing 103 This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012] 17 17 17 q21.31 39687658 39691132 + 42977080 42983541 + 44899712 44903679 + 6480464;8699517;7240710;8554872 12477932;14702039;15489334;16344560;17207965;20301301;22581229;23872636 388389 F8W6J8;J3KSE5;Q8IW40 ABBA01028341;AC015936;AK091530;AK289760;AMYH02033503;BC041060;BQ448043;CH471178;DA185416;DA749894;DB024698;DB085134;DB451789;NG_032674;NG_032792;NM_001258395;NM_001258396;NM_001258397;NM_001258398;NM_001258399;NM_213607 AAH41060;ADQ32094;BAF82449;EAW51572;NP_001245324;NP_001245325;NP_001245326;NP_001245327;NP_001245328;NP_998772;Q8IW40 Hs.743398 1853861;2148774;2167075 RH78023;SHGC-24053;WI-13537 CILD17;FLJ13094;FLJ34211;PR46b;SMH OTTHUMP00000205386;OTTHUMP00000205387;OTTHUMP00000205388;coiled-coil domain-containing protein 103 APPROVED protein-coding ENSG00000214447 HGNC:32700 14200 614677;614679 REVIEWED 1605307 CCDC102A coiled-coil domain containing 102A INTERACTS WITH 2-methylcholine; atrazine; cytarabine 16 16 16 q21 42046911 42071294 - 57546090 57570477 - 57512178 57536565 - 6480464 12477932;15489334;23137000 92922 Q96A19 ABBA01025273;ABBA01025274;ABBA01025275;AC004382;AMYH02032109;BC004307;BC008285;BC009941;CA449463;CH471092;NM_033212 AAH04307;AAH08285;AAH09941;ABM83575;ABM86814;EAW82935;NP_149989;Q96A19 Hs.644611 2191171 MARC_15717-15718:1013527516:1 MGC10992;MGC13119 OTTHUMP00000164677;coiled-coil domain-containing protein 102A protein-coding ENSG00000135736 HGNC:28097 14408 VALIDATED 1602986 CCDC105 coiled-coil domain containing 105 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 6-propyl-2-thiouracil (ortholog); methimazole (ortholog); potassium dichromate (ortholog) 19 19 19 p13.12 15017220 15029771 + 15121539 15134083 + 15010727 15023271 + 6480464;8554872 12477932;14702039;19056867;19773279 126402 Q8IYK2 ABBA01051092;ABBA01051093;AC004659;AC104528;AK097684;AL833847;AMYH02035639;BC035678;CH471106;NM_173482 AAH35678;BAC05142;CAD38706;EAW84458;NP_775753;Q8IYK2 Hs.375985 FLJ40365 coiled-coil domain-containing protein 105 protein-coding ENSG00000160994 HGNC:26866 08280 VALIDATED 1602886 CCDC109B coiled-coil domain containing 109B ENCODES a protein that exhibits calcium channel inhibitor activity (ortholog); INVOLVED IN mitochondrial calcium ion homeostasis (ortholog); mitochondrial calcium ion transport (ortholog); FOUND IN integral component of mitochondrial inner membrane; uniplex complex; calcium channel complex (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene 4 4 4 q25 107775242 107902535 + 110481355 110608872 + 109560199 109688634 + 6480464 12477932;14702039;15146197;15489334;16169070;16341674;17207965;19773279;20332099;21139048;23455636;24231807 55013 C9JTJ6;Q9NWR8 ABBA01063777;ABBA01063778;ABBA01063779;ABBA01063780;ABBA01063781;ABBA01063782;ABBA01063783;AC004067;AC105314;AK000654;AK095936;AK291098;AK311030;AL832311;AMYH02009898;BC002633;BM830891;CH471057;CN427680;CR457234;KC876908;KF457805;NM_017918;XM_006714246 AAH02633;ADQ31823;BAA91309;BAF83787;CAG33515;EAX06242;EAX06243;NP_060388;Q9NWR8;XP_006714309 Hs.234149 1644863;1650647;1662290;1666789;1698608;1767711;1772166;2134913;2144014;2155190;2155192;2161978;2185398 G16732;G19585;RH102859;SHGC-19822;SHGC-19823;SHGC-19830;SHGC-19832;SHGC-19837;SHGC-19839;SHGC-23008;SHGC-50796;SHGC-67915;SHGC4-1507 EMRE;FLJ20647;MCUb OTTHUMP00000162741;coiled-coil domain-containing protein 109B;essential MCU regulator;mitochondrial calcium uniporter regulatory subunit MCUb protein-coding ENSG00000005059 HGNC:26076 07939 VALIDATED 1606123 CCDC108 coiled-coil domain containing 108 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; fonofos; levonorgestrel 2 2 2 q35 213637289 213675960 - 219867568 219906273 - 219002846 219041551 - 6480464 12477932;16344560;21822266 255101 B4DYZ8;B4DZ05;C9JIV0;C9JLP9;C9JVA0;H7C0B4;Q49A14;Q6ZU64 AA503417;ABBA01023853;AC097468;AK123235;AK125957;AK127189;AK302678;AK302688;AL048936;AL833882;AMYH02005811;AMYH02005812;BC031585;BC039688;BC047637;BC130281;BG723301;BX649039;DB070903;HY027454;NM_001278295;NM_001278296;NM_152389;NM_194302;XM_006712396;XM_006712397 AAH31585;AAH47637;AAI30282;AAX88919;ADZ16075;BAC85566;BAC86362;BAC86878;BAG63910;BAG63917;CAD38738;NP_001265224;NP_001265225;NP_689602;NP_919278;Q6ZU64;XP_006712459;XP_006712460 Hs.147762 DKFZp434O0527;MGC35338 OTTHUMP00000163969;OTTHUMP00000163970;OTTHUMP00000206325;coiled-coil domain-containing protein 108 protein-coding ENSG00000181378 HGNC:25325 13201;17534 614270 VALIDATED 1605844 CCDC107 coiled-coil domain containing 107 This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 9 9 9 p13.3 35591860 35594733 + 35658279 35661500 + 35658290 35661503 + 6480464;8554872 12477932;15164053;15489334;16713569;21832049;21988832;8889548 203260 Q8WV48;X6R9Y9 ABBA01064988;AK075523;AK307223;AL357874;AMYH02019463;BC018758;BC051285;BE903559;BM973388;CH471071;CS051361;DC410699;DQ884403;NG_017041;NG_033120;NM_001195200;NM_001195201;NM_001195217;NM_174923;XM_005251403 AAH18758;AAH51285;ABI63370;ABM82866;ABM86052;BAC11669;CAI72175;EAW58364;EAW58365;EAW58366;EAW58367;EAW58368;EAW58369;NP_001182129;NP_001182130;NP_001182146;NP_777583;Q8WV48;XP_005251460 Hs.745107 FLJ97171;MGC31967;PSEC0222;RP11-331F9.6 OTTHUMP00000021334;OTTHUMP00000021335;OTTHUMP00000021336;OTTHUMP00000021337;coiled-coil domain-containing protein 107 protein-coding ENSG00000159884 HGNC:28465 14545 REVIEWED 1315794 CCBL1 cysteine conjugate-beta lyase, cytoplasmic This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34.11 102246153 102296248 - 131595392 131644354 - 128832942 128882075 - 1580863;2306289;6480464;6907045;8554872 16984225 10369878;12477932;14702039;15016471;15164053;15364907;15489334;16344560;16376499;16463021;16828464;17207965;18029348;18342615;19338303;2139845;21832049;22093698;22939629;7814371;7883047;8736988;8889548;8968194 883 A8K563;B7Z4W5;Q16773;Q5T276;Q5T277;Q5T278 ABBA01043904;ABBA01043905;ABBA01043906;ABBA01043907;AK094505;AK291178;AK297995;AK314427;AL441992;AL672142;AMYH02021728;AU123740;AW073815;BC013069;BC021262;BC022468;BC033685;BI755163;BM692880;BU622726;CH471090;DA381449;DC413592;EL733697;NM_001122671;NM_001122672;NM_001287390;NM_004059;NR_109829;X82224;XM_006717311;Y17447;Y17448 AAH21262;AAH33685;BAF83867;BAG37043;BAG52878;BAH12701;CAA57702;CAB44342;CAB44343;EAW87840;EAW87841;NP_001116143;NP_001116144;NP_001274319;NP_004050;Q16773;XP_006717374 Hs.495250 1679211;1767381;1777040;1791250;1931894;2119408;2129332;5014740;5016364;5022200 D17S610;L18426;L18429;MARC_8233-8234:996688438:1;REN36776;RH46270;RH71294;RH93380;SHGC-31452;WI-22794 FLJ95217;GTK;KAT1;KATI;MGC29624 OTTHUMP00000022311;OTTHUMP00000022312;beta-lysase, kidney;cysteine conjugate-beta lyase;cysteine-S-conjugate beta-lyase;cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase);glutamine transaminase K;glutamine--phenylpyruvate transaminase;glutamine-phenylpyruvate aminotransferase;kyneurenine aminotransferase;kynurenine aminotransferase I;kynurenine--oxoglutarate transaminase 1;kynurenine--oxoglutarate transaminase I APPROVED protein-coding ENSG00000171097 HGNC:1564 02769 600547 REVIEWED 1606416 CCDC110 coiled-coil domain containing 110 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cyclosporin A; melphalan; trichostatin A 4 4 4 q35.1 183693987 183720463 - 186366336 186392913 - 185445182 185471759 - 6480464;8554872 12477932;14702039;15447989;15489334;18029348;18160854;21145461 256309 D6RB18;D6RCR3;D6RDN4;E7EUS2;H0Y9S3;Q8TBZ0 AB080722;ABBA01070532;ABBA01070533;AC106897;AI949455;AK097605;AK302815;AL833337;AMYH02010663;AMYH02010664;BC028419;BC038515;BU567268;BX641119;CH471056;DB453450;NM_001145411;NM_152775;XM_005262891;XM_006714172;XM_006714173;XR_427540 AAH28419;AAH38515;ABM85671;BAC05116;BAC81776;BAG64014;EAX04642;EAX04643;NP_001138883;NP_689988;Q8TBZ0;XP_005262948;XP_006714235;XP_006714236 Hs.41101 2145706 STS-H64141 CT52;KM-HN-1;KMHN1;MGC33607 OTTHUMP00000218164;OTTHUMP00000218165;OTTHUMP00000218166;OTTHUMP00000218206;cancer/testis antigen 52;cancer/testis antigen KM-HN-1;coiled-coil domain-containing protein 110 protein-coding ENSG00000168491 HGNC:28504 11335 609488 VALIDATED 1606143 CCDC112 coiled-coil domain containing 112 INTERACTS WITH clorgyline; cytarabine; fonofos 5 5 5 q22.3 110550404 110580924 - 114602885 114632458 - 115267188 115296761 - 6480464 12477932;15146197;16189514;17207965;8889548 153733 D6RF76;Q8NEF3 ABBA01069034;AC008494;AJ580807;AMYH02012000;BC031242;BM873447;BM873516;BM975079;CH471086;CN310912;CX786155;DB451908;DB455340;DB476530;NM_001040440;NM_152549;XM_005271908 AAH31242;ADQ31767;CAE45342;EAW48966;EAW48967;NP_001035530;NP_689762;Q8NEF3;XP_005271965 Hs.436121 1686849 RH91257 MBC1;MGC39633 OTTHUMP00000159134;OTTHUMP00000196940;OTTHUMP00000222913;OTTHUMP00000222914;coiled-coil domain-containing protein 112;mutated in bladder cancer 1;mutated in bladder cancer protein 1 protein-coding ENSG00000164221 HGNC:28599 11346 VALIDATED 1603946 CCDC115 coiled-coil domain containing 115 ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (+)-catechin; 17beta-estradiol; copper(2+) sulfate 2 2 2 q21.1 124369157 124373263 - 131095814 131100383 - 130337933 130342810 - 6480464;8554872 12477932;14702039;16344560;19946888;21118521;21139048;21832049;21890473;21900206 84317 B8ZZ99;F8WCZ3;Q96NT0 AA831631;ABBA01017957;AC132479;AK054693;AK092196;AK124405;AK295922;AMYH02004775;BC006429;CH471263;DB025106;DC340780;NM_032357;NR_104471;XM_005263825;XR_427117 AAH06429;AAY24075;BAB70794;BAG58709;EAW55610;EAW55611;EAW55612;NP_115733;Q96NT0;XP_005263882 Hs.104203;Hs.601991 2161660;2163287;2175081 A003B44;RH70800;WI-21758 FLJ30131;MGC12981;ccp1 OTTHUMP00000162399;OTTHUMP00000204515;OTTHUMP00000204516;coiled-coil domain-containing protein 115 protein-coding ENSG00000136710 HGNC:28178 14428 613734 VALIDATED 1606018 CCDC113 coiled-coil domain containing 113 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; protein complex; INTERACTS WITH 3,4-dichloroaniline; all-trans-retinoic acid; cyclosporin A 16 16 16 q21 42783261 42817187 + 58283840 58317740 + 58249936 58283836 + 6480464;8554872 11042152;11076863;11230166;11256614;12477932;15489334;15489336;16169070;16381901;18029348;23455924 29070 H3BMZ8;H3BQS9;Q9H0I3 ABBA01025300;AC009107;AF161550;AK027208;AK299066;AK314300;AL136785;AMYH02032117;BC126445;BC126447;CH471092;CR533506;DC369542;NM_001142302;NM_014157 AAF29037;AAI26446;AAI26448;ADR82957;BAB15692;BAG36954;BAG61132;CAB66719;CAG38537;CAL37709;EAW82970;NP_001135774;NP_054876;Q9H0I3 Hs.11614 1684995;1700190;1738631;2119570;5015861;5015961;5022383;5024761;5037552;7185938 D10S16;D15S1477;D16S2766;D8S2279;ECD04345;RH103710;RH36905;RH69554;RH98341 DKFZp434N1418;FLJ23555;HSPC065 OTTHUMP00000164725;coiled-coil domain-containing protein 113 protein-coding ENSG00000103021 HGNC:25002 07121 VALIDATED 1607037 CCDC106 coiled-coil domain containing 106 FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH atrazine; diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.42 53201244 53206819 + 56158934 56164527 + 55647568 55653161 + 6480464 12477932;14702039;15489334;15790807;16169070;20159018;21832049;8619474;9110174 29903 K7EMI9;K7EMP7;K7ER22;K7ES29;Q9BWC9 ABBA01020862;AC008735;AF054984;AK097095;AMYH02036473;AY927563;AY927628;BC000412;BC008956;BI907663;CH471135;CR450308;GU354321;GU354322;GU354323;NM_013301;U79303;XM_005258827;XM_005258828 AAB50227;AAH00412;AAH08956;ABZ92128;ADC34060;ADC34061;ADC34062;BAG53421;CAG29304;EAW72401;NP_037433;Q9BWC9;XP_005258884;XP_005258885 Hs.82482 HSU79303;ZNF581 coiled-coil domain-containing protein 106;protein predicted by clone 23882 protein-coding HGNC:30181 09995 613478 VALIDATED 1602080 CCDC114 coiled-coil domain containing 114 This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013] 19 19 19 q13.33 45664943 45688566 - 48799709 48825191 - 48296452 48321934 - 6480464;8699517;7240710;8554872 12477932;14702039;16344560;19913121;20628086;23261302;23261303;23506398;24250222 93233 Q96M63 ABBA01033001;ABBA01033002;ABBA01033003;ABBA01033004;ABBA01033005;AC008392;AK057357;AK057488;AK128144;AL122083;AMYH02036292;BC007730;BC025752;BC031619;BC117431;BC117433;BX101994;CH471177;DB060305;NG_033251;NM_144577;XM_005259413;XM_005259414;XM_005259415;XM_005259416;XM_006723504;XR_430222 AAI17432;AAI17434;BAB71448;BAB71508;BAC87296;CAB59257;EAW52327;EAW52328;EAW52329;EAW52330;EAW52331;EAW52332;NP_653178;Q96M63;XP_005259470;XP_005259471;XP_005259472;XP_005259473;XP_006723567 Hs.112645 1700918;5014063 D15S1390;RH104086 CILD20;FLJ32926 OTTHUMP00000209278;coiled-coil domain-containing protein 114 protein-coding ENSG00000105479 HGNC:26560 08149 615038;615067 REVIEWED 1602289 CCDC116 coiled-coil domain containing 116 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; phenobarbital 22 22 22 q11.21 5804626 5809156 + 21987086 21991616 + 21632797 21637327 + 6480464;8554872 12477932;14702039;15489334;16189514;16396496;23072936;23128233 164592 B7Z7H5;C9JW89;Q8IYX3 ABBA01055055;AK093365;AK302030;AMYH02038120;AP000553;BC033499;CH471095;HC006868;NM_152612;XM_006724159;XM_006724160 AAH33499;ADZ15446;BAC04145;BAH13611;CBH19239;EAW59465;EAW59466;NP_689825;Q8IYX3;XP_006724222;XP_006724223 Hs.131615 1788944 UniSTS:225108 FLJ36046 OTTHUMP00000198555;OTTHUMP00000198557;coiled-coil domain-containing protein 116 protein-coding ENSG00000161180 HGNC:26688 08203 PROVISIONAL 6768870 CCDC11P1 coiled-coil domain containing 11 pseudogene 1 5 5 5 p13.1 39459323 39460515 - 39571582 39572774 - 39571480 39572672 - 100129040 ABBA01024212;AC026708;AMYH02011197;NG_021844 1337385;1651493;1704194;1715061 CHLC.GATA22B04;D5S577;RH119482;SHGC-79824 pseudo HGNC:43919 INFERRED 1605304 CCDC124 coiled-coil domain containing 124 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cell division (inferred); FOUND IN cytoplasm; plasma membrane; INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); C60 fullerene (ortholog) 19 19 19 p13.11 17945548 17956518 + 18043824 18054794 + 17933015 17943985 + 6480464 12477932;15342556;15489334;17207965;21139048;21145461;21903422;22863883;23894443;24778252;24816145 115098 M0R2F5;Q96CT7 ABBA01051237;AC005602;AC011540;AF086307;AMYH02035714;BC013949;BG829184;BM998230;BP309483;BQ669035;CH471106;DB503140;NM_001136203;NM_138442 AAH13949;ADQ32220;EAW84644;EAW84645;NP_001129675;NP_612451;Q96CT7 Hs.100043 1677468;1683225 RH46130;RH93753 coiled-coil domain-containing protein 124 protein-coding ENSG00000007080 HGNC:25171 14008 VALIDATED 1603009 CCDC121 coiled-coil domain containing 121 INTERACTS WITH all-trans-retinoic acid; calcitriol; copper(2+) sulfate 2 2 2 p23.3 27693962 27697354 - 27848408 27851898 - 27625541 27629031 - 6480464 11181995;12477932;14702039;16344560;21386085;23455924 79635 E5RHR4;Q6ZUS5 ABBA01045213;AC074091;AK023708;AK124337;AK125354;AMYH02003480;BC056244;BC066936;BC066969;CH471053;DB044538;DB325100;DB444296;DB452051;DB554665;NM_001142683;NM_024584;XM_005264560 AAH66936;AAH66969;AAX93200;ADZ15612;BAB14651;BAC86143;BAG54028;EAX00560;EAX00561;NP_001136155;NP_078860;Q6ZUS5;XP_005264617 Hs.21081 2117114;2117116;2169301;2172690 A006C05;D2S1424;G20691;WI-18604 FLJ13646;FLJ43364 OTTHUMP00000158534;OTTHUMP00000200844;OTTHUMP00000225829;coiled-coil domain-containing protein 121 protein-coding ENSG00000176714 HGNC:25833 07834 VALIDATED 1602063 CCDC122 coiled-coil domain containing 122 INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 13 13 13 q14.11 25466632 25509968 - 44410488 44453826 - 43836352 43879690 - 6480464 12477932;14702039;16344560;17672918;20018961 160857 B7ZMJ0;Q5T0U0 ABBA01021238;AK056408;AL512506;AMYH02027949;AW373287;BC137289;BC137290;BC144570;BC144571;CA427248;CH471075;DA739121;NM_144974;XM_005266273 AAI37290;AAI37291;AAI44571;AAI44572;BAB71178;EAX08697;EAX08698;EAX08699;EAX08700;NP_659411;Q5T0U0;XP_005266330 Hs.170849 2183378;5014051;5015619;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D8S2278;D8S2279;RH65800 FLJ31846 OTTHUMP00000018805;OTTHUMP00000178592;coiled-coil domain-containing protein 122 protein-coding ENSG00000151773 HGNC:26478 13406 613408 VALIDATED 1602294 CCDC117 coiled-coil domain containing 117 INTERACTS WITH 2-methylcholine; benzo[a]pyrene; copper(2+) sulfate 22 22 22 q12.1 12968632 12985253 + 29168662 29185283 + 28772674 28789301 + 6480464 10591208;12477932;14702039;15461802;15489334;16344560;18029348;19322201;19875381;21139048;24816145;25036637 150275 B0QYH1;B0QYH3;B7Z820;F8WBN8;Q8IWD4 ABBA01055242;AK091133;AK092636;AK127794;AK289516;AK295140;AK302798;AK302925;AL023494;AMYH02038193;BC040488;BC053874;BC065549;CH471095;CR456461;CS185626;DB087275;HY224937;NM_001284263;NM_001284264;NM_001284265;NM_173510;Z93930 AAH40488;AAH53874;AAH65549;BAC03592;BAF82205;BAH11987;BAH13806;BAH13846;CAG30347;CAJ42807;EAW59761;EAW59762;NP_001271192;NP_001271193;NP_001271194;NP_775781;Q8IWD4 Hs.406460 1663405;1680463;1684300;1721455;2170239;2170241 A002B44;CHLC.GAAT4H07;D22S1010E;G19906;G59579;WIAF-2134 FLJ33814;dJ366L4.1 OTTHUMP00000199103;coiled-coil domain-containing protein 117 protein-coding ENSG00000159873 HGNC:26599 08167 VALIDATED 1603363 CCDC127 coiled-coil domain containing 127 INTERACTS WITH copper(2+) sulfate; pirinixic acid; potassium dichromate 5 5 5 p15.33 304440 317859 - 204875 218333 - 204760 218218 - 6480464 12477932;14702039;15231748;15489334;17207965;21890473;21906983;24250222 133957 D6R9R2;Q96BQ5 ABBA01034262;ABBA01034263;AC021087;AK098567;AMYH02010746;BC015349;CH471235;NG_033064;NM_145265;XM_005248246 AAH15349;ADQ31884;BAC05336;EAW50981;NP_660308;Q96BQ5;XP_005248303 Hs.294145 FLJ25701 OTTHUMP00000220452;OTTHUMP00000220453;coiled-coil domain-containing protein 127 protein-coding HGNC:30520 14053 VALIDATED 1602081 CCDC126 coiled-coil domain containing 126 ENCODES a protein that exhibits alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (inferred); INVOLVED IN protein N-linked glycosylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 7 7 7 p15.3 23625775 23673096 + 23636998 23684327 + 23597379 23644708 + 6480464;8554872 12477932;12690205;12975309;19946888;23275563;9847074 90693 C9J0J0;Q96EE4 ABBA01056713;AC006026;AK026684;AK289911;AL598772;AMYH02015369;AY358713;BC012427;BC104638;CH236948;CH471073;NM_138771 AAH12427;AAI04639;AAQ89075;AAQ96871;BAF82600;EAL24252;EAW93792;EAW93793;EAW93794;EAW93795;EAW93796;NP_620126;Q96EE4 Hs.232296 1341384;1699434 D7S2463;RH103308 FLJ23031;MGC104248 OTTHUMP00000158577;OTTHUMP00000202196;OTTHUMP00000202197;alpha-1,3(6)-mannosylglycoprotein beta-1,6-N-acetyl-glucosaminyltransferase-like;coiled-coil domain-containing protein 126 protein-coding ENSG00000169193 HGNC:22398 14278 VALIDATED 1604967 CCDC129 coiled-coil domain containing 129 ENCODES a protein that exhibits receptor binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol (ortholog); titanium dioxide (ortholog) 7 7 7 p14.3 31544550 31679665 + 31553685 31698334 + 31514071 31658720 + 6480464;8554872 12477932;14702039;16344560;20379614 223075 B8ZZ49;E7EQ43;E7ERG9;Q6ZRS4 AACC02000087;ABBA01056821;ABBA01056822;ABBA01056823;AC005090;AC006044;AK095663;AK128026;AK295011;AK304387;AMYH02015468;AMYH02015469;AMYH02015470;BC132719;DA098735;KF458428;NM_001257967;NM_001257968;NM_194300;NR_047565;XM_005249661 AAI32720;BAC87235;BAG53101;BAG58071;BAG65223;EAL24442;NP_001244896;NP_001244897;NP_919276;Q6ZRS4;XP_005249718 Hs.224269 1338601;1696814;1711852;1717573;2182862 D7S474;D7S693;G49151;G49458;RH122091 FLJ38344 OTTHUMP00000158773;OTTHUMP00000197875;OTTHUMP00000202960;coiled-coil domain-containing protein 129 protein-coding ENSG00000180347 HGNC:27363 14137 VALIDATED 1604584 CCDC130 coiled-coil domain containing 130 INVOLVED IN response to virus; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cyclosporin A; diazinon; hydrogen peroxide 19 19 19 p13.2 13752540 13767891 + 13842574 13874108 + 13731760 13763294 + 6480464;8554872 12477932;14702039;15489334;16169070;16189514;17081983;17207965;22365833;3203696 81576 K7EJZ6;K7ELI4;K7EP29;K7EPA5;K7ES43;P13994 ABBA01029723;ABBA01029724;ABBA01029725;AC008686;AF250306;AK098262;AK293927;AMYH02035586;BC002905;CH471106;KC877714;NM_030818;X13956;XM_005260085;XM_005260086;XM_005260087;XM_005260088;XM_006722914 AAH02905;AAK37425;ADQ31796;BAG53603;BAH11628;CAA32138;EAW84367;EAW84368;NP_110445;P13994;XP_005260142;XP_005260143;XP_005260144;XP_005260145;XP_006722977 Hs.24998 2157596 RH78312 MGC10471 9 kDa protein;coiled-coil domain-containing protein 130 protein-coding ENSG00000104957 HGNC:28118 11304 PROVISIONAL 1343271 CCDC12 coiled-coil domain containing 12 PARTICIPATES IN spliceosome pathway; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; formaldehyde 3 3 3 p21.31 46901718 46956791 - 46963220 47023500 - 46921726 46982010 - 737633;6480464;6907045 12477932 14702039;15146197;15489334;17207965;20360068;21103663;21139048;22269669;22365833;24250222;24816145;8889548 151903 C9JUN5;J3KR35;Q8WUD4;S4R331 ABBA01024708;ABBA01024709;ABBA01024710;AC094020;AC109583;AK096749;AK098120;AK295532;AK303160;AMYH02006677;AMYH02006678;BC020830;BM676030;BM803652;BQ709657;BX098833;CH471055;CN430023;CV574708;DA952452;DC379144;NM_001277074;NM_144716;NR_102269;XM_006712991;XM_006712992 AAH20830;ADQ32239;BAC04857;BAG58444;BAG64261;EAW64795;EAW64796;EAW64797;EAW64798;EAW64799;NP_001264003;NP_653317;Q8WUD4;XP_006713054;XP_006713055 Hs.631918;Hs.692157;Hs.745081 1712154;1769976 G54127;STS-N26202 FLJ39430;FLJ40801;MGC23918 OTTHUMP00000164781;coiled-coil domain-containing protein 12 protein-coding ENSG00000160799 HGNC:28332 13007 VALIDATED 1350707 CCDC13 coiled-coil domain containing 13 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); pentachlorophenol (ortholog); titanium dioxide (ortholog) 3 3 3 p22.1 42690269 42755122 - 42749764 42814745 - 42708272 42773253 - 737633;6480464 12477932 15489334;20379614;23251661;24024966;8889548 152206 Q8IYE1;Q96LI1 ABBA01024763;AC006059;AC099329;AK058196;AK302859;AMYH02006629;BC036050;BM664398;CH471055;NM_144719;XM_005264898;XM_005264899 AAH36050;BAB71711;BAG64044;EAW64669;EAW64670;EAW64671;NP_653320;Q8IYE1;XP_005264955;XP_005264956 Hs.604182 1339056;2142757 D3S2304;D3S4039 FLJ25467 OTTHUMP00000164041;coiled-coil domain-containing protein 13 protein-coding ENSG00000244607 HGNC:26358 08692 VALIDATED 1626254 CCDC137P coiled-coil domain containing 137 pseudogene 3 3 3 p13 72066779 72067549 + 72136041 72136811 + 72086890 72087660 + 642802 ABBA01030943;AC105265;AMYH02007056;NG_009746 pseudo HGNC:33459 INFERRED 1606197 CCDC120 coiled-coil domain containing 120 This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012] X X X p11.23 52736981 52747975 - 48910961 48927510 + 49053432 49069858 + 6480464 12477932;14702039;15489334;16189514;16344560;19377476;19447967;24250222 90060 A8K5Q5;B4DF24;Q96HB5;S4R3T7 ABBA01046107;ABBA01046108;ABBA01046109;ABBA01046110;AC231657;AF196779;AK001937;AK056290;AK125424;AK291370;AK293898;AK294024;AK300366;AK315837;AMYH02039318;BC008769;CH471224;DA102343;DA105393;DA237030;NG_016255;NM_001163321;NM_001163322;NM_001163323;NM_001271835;NM_001271836;NM_033626 AAH08769;ABM83863;ABM84608;ABM87185;ABM87192;ABW03534;ABW03839;BAF84059;BAF98728;BAG57285;BAG57382;BAG62104;EAW50708;EAW50709;EAW50710;NP_001156793;NP_001156794;NP_001156795;NP_001258764;NP_001258765;NP_296375;Q96HB5 Hs.522643 5015619;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D8S2279 JM11 OTTHUMP00000023269;coiled-coil domain-containing protein 120 APPROVED protein-coding ENSG00000147144 HGNC:28910 06595 REVIEWED 6481201 CCDC13-AS1 CCDC13 antisense RNA 1 3 3 p22.1 42774067 42788260 + 42732575 42745158 + 16344560 100874114 ABBA01024763;AC006059;AI619493;AK098828;AMYH02006629;BX111635;DB179860;HG495622;HG495623;NR_046732 Hs.669654 RP4-613B23.4 APPROVED ncrna ENSG00000173811 HGNC:41142 VALIDATED 1604973 CCDC125 coiled-coil domain containing 125 FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; cyclosporin A 5 5 5 q13.2 65578896 65619200 - 68576519 68628623 - 69280692 69332833 - 6480464 12477932;18029348;19787194 202243 F8W912;Q86Z20 AB024691;AB024692;ABBA01048277;ABBA01048278;ABBA01048279;ABBA01048280;AC145132;AC145145;AI141520;AK299871;AL832658;AMYH02011470;AMYH02011471;AMYH02011472;BC108715;BC113749;BQ923745;CH471137;NM_001297696;NM_001297697;NM_176816;XM_005248457;XM_005248458;XM_005248459;XM_005248460;XM_005248461;XM_005248462;XM_005248463;XM_005248464;XM_005248465;XM_005276761;XM_005276762;XM_005276763;XM_005276764;XM_005276765;XM_005276766;XM_005276767;XM_005276768;XM_005276769;XM_006714569;XM_006714570;XM_006726214;XM_006726215 AAI13750;AAI60002;BAC57450;BAC57451;BAG61723;EAW51298;EAW51299;NP_001284625;NP_001284626;NP_789786;Q86Z20;XP_005248514;XP_005248515;XP_005248516;XP_005248517;XP_005248518;XP_005248519;XP_005248520;XP_005248521;XP_005248522;XP_005276818;XP_005276819;XP_005276820;XP_005276821;XP_005276822;XP_005276823;XP_005276824;XP_005276825;XP_005276826;XP_006714632;XP_006714633;XP_006726277;XP_006726278 Hs.654850 1728449;5014740;5014959;5015619;5015881;5017227;5022651;5037552;5109549;5118444 D11S2921;D11S3114;D11S3316;D17S610;D21S1698;D8S2279;G38154;G63660;GDB:335751;L31433 Kenae;OTTHUMP00000161932;OTTHUMP00000192869;OTTHUMP00000222129;coiled-coil domain-containing protein 125 protein-coding ENSG00000183323 HGNC:28924 13774 613781 VALIDATED 1625086 CCDC137 coiled-coil domain containing 137 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH aflatoxin B1; copper atom; copper(0) 17 17 17 q25.3 76278678 76285854 + 79633761 79640937 + 81666731 81673907 + 6480464 12477932;16169070;17207965;21044950;23000965;23602568;24816145 339230 I3L0U5;I3L385;I3L4F6;Q6PK04 ABBA01032159;AC139530;AMYH02034134;BC009369;BC052272;BM548065;CH471099;FJ649645;NM_199287 AAH09369;ACX50616;ADQ32182;EAW89669;NP_954981;Q6PK04 Hs.744125 1697852;1780140 RH102453;SHGC-154444 MGC16597 coiled-coil domain-containing protein 137;hepatocellular carcinoma related protein 2 protein-coding ENSG00000185298 HGNC:33451 614271 VALIDATED 1603550 CCDC138 coiled-coil domain containing 138 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 q12.3 103713196 103802791 + 109403208 109493047 + 108786752 108876591 + 6480464;8554872 12477932;14702039;17203973;21139048;21890473;21906983;21963094;22118674;22505724;22797925;24255178 165055 F8WF51;H7BZ08;H7C005;Q96M89;V9GZ19 ABBA01000764;ABBA01000765;AC010095;AC073415;AK057307;AK125199;AMYH02004512;AMYH02004513;AMYH02004514;BC015847;BC038421;BC050579;CH471182;NM_144978;XM_005263894;XM_005263895;XM_006712344;XM_006712345 AAH15847;AAH50579;AAX88855;AAY14985;BAB71420;BAC86081;EAW53870;EAW53871;EAW53872;EAW53873;NP_659415;Q96M89;XP_005263951;XP_005263952;XP_006712407;XP_006712408 Hs.731709 1673898;1683016;1857034;2114074;2132738 AB070186;RH70637;RH78999;RH79061;RH98799 FLJ32745 OTTHUMP00000161605;OTTHUMP00000203903;coiled-coil domain-containing protein 138 protein-coding ENSG00000163006 HGNC:26531 08136 PROVISIONAL 1606203 CCDC142 coiled-coil domain containing 142 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 2 2 2 p13.1 74531147 74541522 - 74699959 74710357 - 74472832 74483230 - 6480464;8554872 12477932;14702039;16303743;21790010;8889548 84865 H7C450;Q17RM4 ABBA01075602;AC005041;AK027303;AK075543;AMYH02004091;BC117269;BC143398;BC143399;CH471053;CS051387;NM_032779 AAI17270;AAI43399;ADR83249;BAC11686;CAI72188;EAW99650;NP_116168;Q17RM4 Hs.430199 5014740;5015404;5015619;5015961;5016478;5020946;5022322;5022578;5024413;5037552;5109281 D11S2560;D11S3114;D15S1477;D17S610;D1S1423;D1S1425;D8S2279;GDB:434012;L17705;L17877;L17971 FLJ14397;FLJ90728 OTTHUMP00000160422;OTTHUMP00000202625;OTTHUMP00000202626;coiled-coil domain-containing protein 142 protein-coding HGNC:25889 08598 VALIDATED 1604321 CCDC136 coiled-coil domain containing 136 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 7 7 7 q33 123227853 123258698 + 128431464 128462187 + 128791410 128822133 + 6480464;8554872 11347906;12477932;12690205;14702039;15112360;15231747;16713569;17043677;20877624;21900206;24722188 64753 C9IYI5;C9J884;C9JAD8;C9JE17;C9JU31;H0Y876;H7C4R2;Q96JN2 AB058696;ABBA01057655;AC024952;AC025594;AI611323;AK023500;AK124447;AL133027;AMYH02016719;BC070114;BC150331;BC152408;BX952188;CH236950;CH471070;DR003042;NM_001201372;NM_022742;XM_005250534;XM_005250535;XM_005250536;XM_005250537;XM_005250538;XM_005250539;XM_005250540;XM_006716089;XM_006716090;XM_006716091 AAI50332;AAI52409;BAB14590;BAB47422;BAC85854;CAB61359;EAL24111;EAW83681;EAW83682;EAW83683;EAW83684;EAW83685;EAW83686;EAW83687;EAW83688;NP_001188301;NP_073579;Q96JN2;XP_005250591;XP_005250592;XP_005250593;XP_005250594;XP_005250595;XP_005250596;XP_005250597;XP_006716152;XP_006716153;XP_006716154 Hs.521178 1773142;2139024;5125569 D7S2100E;GDB:4585443;RH66361 DKFZp434G156;MGC129657;MGC176632;NAG6 OTTHUMP00000212772;OTTHUMP00000212773;OTTHUMP00000212774;OTTHUMP00000212775;OTTHUMP00000212776;coiled-coil domain-containing protein 136;nasopharyngeal carcinoma-associated gene 6 protein protein-coding ENSG00000128596 HGNC:22225 10887 611902 VALIDATED 1605621 CCDC134 coiled-coil domain containing 134 FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amiodarone; aflatoxin B1 (ortholog) 22 22 22 q13.2 26002745 26028378 + 42196636 42228175 + 41800632 41826302 + 6480464 10591208;12477932;14702039;15461802;15489334;16196087;16713569;16751776;18087676;18187620;19946888;21123754;21890473;22644376;23070808;23383273 79879 B0QY51;Q9H6E4 ABBA01055652;ABBA01055653;ABBA01055654;AK026002;AK054703;AK124515;AK299311;AL021453;AMYH02038449;BC017693;BX473493;CA420664;CH471095;CR456484;DQ595347;DQ595611;NM_024821;XM_005261748 AAH17693;ADZ15807;BAB15315;BAG61322;CAG30370;EAW60468;NP_079097;Q9H6E4;XP_005261805 Hs.442623;Hs.474991 1661082;1711800 G49425;SHGC-36258 FLJ22349;MGC21013;dJ821D11.3 OTTHUMP00000199517;coiled-coil domain-containing protein 134 protein-coding ENSG00000100147 HGNC:26185 07988 VALIDATED 1604352 CCDC132 coiled-coil domain containing 132 FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 7 7 7 q21.3 87566164 87692840 + 92861653 92990435 + 93232340 93361123 + 6480464 11347906;12477932;12690205;12853948;14702039;17207965;19056867;19913121;19946888;20628086;21472204;21906983;23383273;24816145 55610 B4DS55;C9JA29;F2Z3F0;F8WDT1;H0Y7Q2;H7BZP1;Q5JPD9;Q75N11;Q96JG6 AA724937;AB058764;AB100163;ABBA01045792;ABBA01045793;ABBA01045794;AC002379;AC002453;AK000104;AK027234;AK055965;AK126478;AK299582;AL832393;AL833112;AMYH02016278;AMYH02016279;BC017888;BC035984;BC047757;BC108708;BC132740;BC132742;BC152424;BE671517;CB985373;CH236949;CH471091;KF511049;NM_001257998;NM_017667;NM_024553;XM_005250487 AAH17888;AAI08709;AAI32741;AAI32743;AAI52425;AAI60012;AAS02013;AAS02014;AAS02023;ADQ32145;BAA90948;BAB15701;BAB47490;BAG54334;BAG61517;BAI52922;CAI46135;EAL24143;EAW76815;EAW76816;EAW76817;EAW76818;EAW76819;EAW76820;EAW76821;NP_001244927;NP_060137;NP_078829;Q96JG6;XP_005250544 Hs.202424 1338726;1667914;1671490;1696846;1703520;1759053;2132039;2187401;7186132 D7S652;G49167;GDB:1318432;RH44310;RH44982;RH48622;SHGC-150613;SHGC-82660 FLJ20097;FLJ23581;KIAA1861;MGC176659 OTTHUMP00000162526;OTTHUMP00000208668;coiled-coil domain-containing protein 132 protein-coding ENSG00000004766 HGNC:25956 VALIDATED 1626599 CCDC144A coiled-coil domain containing 144A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; arsenite(3-); kojic acid 17 17 17 p11.2 16496531 16496950 + 16593549 16678311 + 16690235 16774997 + 6480464;8554872 11997339;12477932;18655026;9628581 9720 A2RUR9;A6NG92;A6NJB5;C9JAY6;C9JT67 AB011137;ABBA01001825;ABBA01035645;ABBA01035646;ABBA01035647;AC098850;AK125971;AMYH02033081;BC034617;BC133019;BC144224;BC144225;NM_014695;XM_005256877;XM_006721607;XM_006721608 A2RUR9;AAI33020;AAI44225;AAI44226;BAA25491;BAC86369;NP_055510;XP_005256934;XP_006721670;XP_006721671 Hs.745246 2133142;2183911 G16511;SHGC-64094 FLJ43983;KIAA0565;MGC164650 OTTHUMP00000065240;coiled-coil domain-containing protein 144A protein-coding ENSG00000170160 HGNC:29072 PROVISIONAL 1602834 CCDC140 coiled-coil domain containing 140 This gene encodes a protein that appears to be restricted to select higher primate species. This protein contains a C-terminal coiled-coil domain, which is a versatile structural motif consisting of multiple amphipathic alpha-helices that twist around each other to form a supercoil. [provided by RefSeq, Aug 2011] 2 2 2 q36.1 216930889 216937943 + 223162866 223169936 + 222298147 222305217 + 6480464 11166216;12477932;14702039;14760737;9138288 151278 C9K0E1;Q96MF4 ABBA01023816;AC010980;AK057009;AMYH02005857;BC109388;CH471063;NG_021186;NM_153038 AAI09389;AAY14901;BAB71341;EAW70798;NP_694583;Q96MF4 Hs.350729 1741981;1745265;1745375 GDB:187424;GDB:596326;GDB:603639 FLJ32447;MGC133159 OTTHUMP00000164204;OTTHUMP00000203835;coiled-coil domain-containing protein 140 APPROVED protein-coding ENSG00000163081 HGNC:26514 08132 VALIDATED 1606113 CCDC141 coiled-coil domain containing 141 INVOLVED IN centrosome localization (inferred); cerebral cortex radially oriented cell migration (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN centrosome (inferred); cytoplasm (inferred); INTERACTS WITH copper atom; copper(0); aflatoxin B1 (ortholog) 2 2 2 q31.2 173288863 173509183 - 179694484 179914841 - 178829757 179050111 - 6480464;8554872 12477932;12812986;14702039;19536175;20956536;22505724;23583979;24165912 285025 B8ZZB3;C9JR62;E7ERF0;H7C0P1;J3KNW6;Q6ZP82 ABBA01062248;ABBA01062249;ABBA01062250;ABBA01062251;ABBA01062252;ABBA01062253;AC023270;AC092640;AC093792;AK096821;AK129847;AL832777;AMYH02005331;AMYH02005332;AMYH02005333;BC087856;BC108697;BC115378;BX649042;CH471058;NM_173648;XM_006712440 AAI08698;AAI15379;AAX88845;BAC04869;BAC85242;EAX11011;EAX11012;NP_775919;Q6ZP82;XP_006712503 Hs.324341 1659674;1763343 D2S2804;SHGC-147067 DKFZp686G197;FLJ26337;FLJ39502;MGC134803 CAMDI;OTTHUMP00000205978;coiled-coil domain-containing protein 141;coiled-coil protein associated with myosin II and DISC1 protein-coding ENSG00000163492 HGNC:26821 08257 616031 PROVISIONAL 1605248 CCDC144B coiled-coil domain containing 144B (pseudogene) INTERACTS WITH silicon dioxide; 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 17 17 17 p11.2 239 667 - 18441114 18528930 - 18537800 18625617 - 6480464 11997339;12477932;14702039;16344560 284047 Q3MJ40 ABBA01001018;ABBA01003918;ABBA01013324;AC026271;AC107983;AK093811;AMYH02033116;BC062767;BC101585;BC104815;BC143561;BX647826;DB113689;EF553518;KF495728;NR_036647 AAH62767;AAI01586;AAI04816;AAI43562;ABQ66264;Q3MJ40 Hs.448012;Hs.745246 5095864;5114870 D17S1980;SHGC-57390 FLJ36492;MGC126634 coiled-coil domain-containing protein 144B APPROVED pseudo ENSG00000154874 HGNC:26704 08777 PROVISIONAL 1348740 CCDC14 coiled-coil domain containing 14 INVOLVED IN substantia nigra development; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN centrosome; INTERACTS WITH 2-methylcholine; atrazine; calcitriol 3 3 3 q21.1 122039702 122087793 - 123616152 123680255 - 123897305 123961408 - 737633;6480464;8554872 12477932 14702039;15146197;15342556;15840729;16189514;16344560;16713569;17043677;19322201;19615732;20936779;21139048;21832049;21906983;21963094;21987572;21988832;22505724;23000965;23455924;24613305;24726327 64770 C9J6B5;C9JSI8;C9JU82;C9JWZ1;H3BM06;H7C2U5;H7C5T3;J3QT39;Q49A88 AA743688;ABBA01016447;ABBA01016448;AC117381;AF086562;AI435151;AK022954;AK027607;AK123060;AK294979;AK295091;AK307847;AL122079;AL833312;AMYH02007558;BC020246;BC040285;BC042613;BG621278;BP213762;BP382977;BX537652;CH471052;CN424790;DA031063;DB037501;DB306263;DB471090;NM_022757;XM_005247710;XM_005247711;XM_005247712;XM_005247713;XM_005247714;XM_005247715;XM_005247716;XM_006713731;XM_006713732;XM_006713733 AAH20246;AAH40285;AAH42613;BAB14329;BAB55229;BAH11939;BAH11968;CAB59254;CAD91162;CAD97804;EAW79429;EAW79430;EAW79431;EAW79432;EAW79433;EAW79434;NP_073594;Q49A88;XP_005247767;XP_005247768;XP_005247769;XP_005247770;XP_005247771;XP_005247772;XP_005247773;XP_006713794;XP_006713795;XP_006713796 Hs.645028 1335827;2145008;2184248 A006P02;D3S3519;SHGC-77280 DKFZp434L1050;FLJ12892;FLJ41065 OTTHUMP00000202862;OTTHUMP00000202863;OTTHUMP00000202864;OTTHUMP00000215968;OTTHUMP00000215969;coiled-coil domain-containing protein 14 protein-coding ENSG00000175455 HGNC:25766 07801 VALIDATED 6766595 CCDC148-AS1 CCDC148 antisense RNA 1 2 2 q24.1 159023162 159092681 + 158166650 158236169 + 12477932 554201 Q4ZG13 ABBA01004850;AC069146;AMYH02005057;BC021739;HG494777;NR_038850 AAX88932 Hs.570262 AC069146.2 APPROVED ncrna ENSG00000227480 HGNC:44134 VALIDATED 1603856 CCDC144NL coiled-coil domain containing 144 family, N-terminal like INTERACTS WITH 3-methylcholanthrene; silicon dioxide 17 17 17 p11.2 21742454 21775198 + 20766708 20799453 - 20863395 20896140 - 6480464 12477932;21832049;23720494 339184 Q6NUI1 ABBA01050452;AC090774;AMYH02033192;BC068597;NM_001004306 AAH68597;NP_001004306;Q6NUI1 Hs.674830 1788246 D7S3105 MGC87631 OTTHUMP00000163109;putative coiled-coil domain-containing protein 144 N-terminal-like protein-coding ENSG00000205212 HGNC:33735 17572 PROVISIONAL 1626596 CCDC144CP coiled-coil domain containing 144C, pseudogene INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog); benzo[a]pyrene (ortholog) 17 17 17 p11.2 1 4421 + 20224487 20305504 + 20321174 20402191 + 6480464 11997339;12477932;16344560 348254 Q8IYA2 ABBA01054581;ABBA01054582;AC008088;AC015818;AK295707;AL162090;AL162091;AMYH02033185;BC036241;DA321951;DV080283;DV080284;NR_023380 BAG58553 Hs.462475 2183911;5015861;5037552;7185938 D10S16;D8S2279;SHGC-64094 CCDC144C;KIAA0565 APPROVED pseudo HGNC:29073 PROVISIONAL 1604533 CCDC148 coiled-coil domain containing 148 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH methyl methanesulfonate; paracetamol; valproic acid 2 2 2 q24.1 152644608 152930040 - 159027869 159313297 - 158171357 158456785 - 6480464;8554872 12477932;14702039;16344560;19060904;19401682;20379614;21297076 130940 B8ZZV3;F8WBK8;F8WC92;F8WCV9;F8WCW7;Q8NFR7 ABBA01004850;AC008070;AC019044;AC069146;AF458588;AK058105;AK123220;AK308783;AK309246;AK311042;AMYH02005057;BC015395;BC031994;BC105928;BC107596;BC107597;CH471058;DA230063;NM_001171637;NM_001301684;NM_001301685;NM_138803;XM_005246319;XM_005246320;XM_006712296;XM_006712297;XM_006712298 AAH15395;AAI05929;AAI07597;AAI07598;AAM49716;AAX88933;AAX88983;AAY14928;BAB71668;EAX11434;EAX11435;NP_001165108;NP_001288613;NP_001288614;NP_620158;Q8NFR7;XP_005246376;XP_005246377;XP_006712359;XP_006712360;XP_006712361 Hs.668597 1646122;1696784;1728953;1784114;1856924 D10Bir6;D2S2686;RH78496;SHGC-153856;SHGC-79818 MGC125588;MGC125590 OTTHUMP00000204753;OTTHUMP00000204759;coiled-coil domain-containing protein 148 protein-coding ENSG00000153237 HGNC:25191 14046 VALIDATED 1606995 CCDC149 coiled-coil domain containing 149 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; methyl methanesulfonate; silicon dioxide (ortholog) 4 4 4 p15.2 25257207 25430723 - 24807739 24981826 - 24806117 24980204 - 6480464;8554872 12477932;14702039;16344560;17457313;18482256;19850743;20379614;21139048;21832049;8889548 91050 Q6ZUS6 ABBA01032684;ABBA01032685;ABBA01032686;ABBA01032687;ABBA01032688;ABBA01032689;AC006390;AC113614;AC116422;AF086111;AK023472;AK125353;AK296454;AK302905;AL834257;AMYH02008906;AMYH02008907;BC057761;BC067735;CB243678;CH471069;DA950851;DB244172;DC422585;DR423861;NM_001130726;NM_173463;XM_005248210;XM_006713985 AAH57761;AAH67735;BAC86142;BAG59102;BAG64075;CAD38932;EAW92824;EAW92825;EAW92826;NP_001124198;NP_775734;Q6ZUS6;XP_005248267;XP_006714048 Hs.106432 1339837;1341345;1683207;1697730;1700056;1756031;1850688;1855104 D4S1110;D4S2911;D4S3052;RH102387;RH103641;SHGC-142844;SHGC-67338;SHGC-67371 DKFZp761B107;FLJ13410 OTTHUMP00000217986;OTTHUMP00000217987;coiled-coil domain-containing protein 149 protein-coding ENSG00000181982 HGNC:25405 10908 VALIDATED 1605034 CCDC15 coiled-coil domain containing 15 FOUND IN centrosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; calcitriol 11 11 11 q24.2 121984158 122071427 + 124824017 124911385 + 124954121 125041489 + 6480464 12477932;14702039;20379614;21832049;21890473;24324551;25015289 80071 E9PKB1;Q0P6D6 ABBA01031248;AK023277;AMYH02025731;AP003501;AW339835;BC018540;BU569785;CH471065;DB516555;NM_025004;XM_006718916;XM_006718917;XM_006718918;XM_006718919;XM_006718920 AAH18540;BAB14504;EAW67617;EAW67618;NP_079280;Q0P6D6;XP_006718979;XP_006718980;XP_006718981;XP_006718982;XP_006718983 Hs.287555 1740817;1748807;1782440;2066372;2156986;2183507 D11S1041;D11S1147;D11S4443;REN104373;SHGC-110431;SHGC-155035 FLJ13215 OTTHUMP00000231542;OTTHUMP00000231543;coiled-coil domain-containing protein 15 protein-coding ENSG00000149548 HGNC:25798 07820 VALIDATED 1605975 CCDC146 coiled-coil domain containing 146 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; bisphenol A; hydralazine 7 7 7 q11.23 71497691 71625151 + 76751934 76924534 + 77122617 77295213 + 6480464;8554872 10819331;12477932;14702039;16344560;20379614;20935630;21145461;22952603 57639 C9JRR4;Q8IYE0;Q96MS1 AB040938;ABBA01058000;ABBA01058001;AC007000;AC073635;AC098851;AF461817;AK056542;AK292491;AMYH02016096;BC029458;BC036053;BX649000;CH471091;DB099681;HM370402;NM_020879;XM_005250513;XM_005250514 AAH29458;AAH36053;AAP97709;BAA96029;BAB71211;BAF85180;EAW77041;EAW77042;EAW77043;EAW77044;NP_065930;Q8IYE0;XP_005250570;XP_005250571 Hs.113940 1691162;1718413;1786356;1851320;1855668;2133708;2134752;2142340;2154119;2159953;2178080;2182954;5014051;5022200;5037552;5093722 A009V32;D7S2907;D8S2278;D8S2279;G32885;L18426;RH122407;RH17500;RH79020;RH99096;SGC34766;SHGC-156234;STS-F04943;STS-R61236;STS-Z36531;WI-21151 KIAA1505 OTTHUMP00000208568;coiled-coil domain-containing protein 146 protein-coding ENSG00000135205 HGNC:29296 11150 VALIDATED 1606406 CCDC150 coiled-coil domain containing 150 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsane; arsenic atom; arsenous acid 2 2 2 q33.1 191260248 191353407 + 197504278 197597530 + 196639632 196732806 + 6480464;8554872 12477932;14702039;24250222 284992 B4DRE1;B4DZ03;B4E060;B8ZZI4;E9PCV3;F8WCU1;Q8NCX0 ABBA01062460;ABBA01062461;AC068544;AK001064;AK096130;AK096979;AK125768;AK299214;AK301665;AK302685;AK303236;AK309349;AL834537;AMYH02005507;AMYH02005508;AMYH02005509;BC062449;BC062658;CH471063;HC006922;NM_001080539;XM_006712438;XM_006712439 AAH62449;AAH62658;AAY14905;BAC04706;BAC04920;BAG61253;BAG63139;BAG63915;BAG64322;CAD39193;CBH19266;EAW70131;NP_001074008;Q8NCX0;XP_006712501;XP_006712502 Hs.132519 1341683;5015881;5020740;5037552;7185494 D2S311;D8S2279;GDB:335751;L17809 DKFZp434P055;FLJ10202;FLJ38811;FLJ39660;MGC72171 OTTHUMP00000205761;coiled-coil domain-containing protein 150 protein-coding ENSG00000144395 HGNC:26834 08264;08537 PROVISIONAL 7241943 CCDC147-AS1 CCDC147 antisense RNA 1 (head to head) 10 10 10 q25.1 99851868 99854088 - 106111059 106113353 - 104351301 104353575 - 11329013;16344560 100505869 ABBA01063087;AI765761;AL162742;AMYH02023736;BG204753;BX093559;DB258473;NR_108036 Hs.338140 ncrna HGNC:45243 VALIDATED 2298815 CCDC152 coiled-coil domain containing 152 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; formaldehyde; indole-3-methanol (ortholog) 5 5 5 p12 42646453 42692073 + 42756920 42802539 + 42756818 42802437 + 6480464;8554872 12477932;15809229 100129792 B4E0P7;Q4G0S7 ABBA01024242;AC008945;AC113368;AK127368;AK303469;AMYH02011229;AY947526;BC015985;BC039102;CH471119;DB450032;DB515085;NM_001134848 AAH39102;AAX21787;BAG54496;BAG64509;EAW56024;EAW56025;NP_001128320;Q4G0S7 Hs.745017 1682870;1764571;1768235;1772844;1856704;2121104;2134582;2134584;2139739;2186663;5092784 A006E08;D5S1857;D5S2379;G09819;G32328;HUM000AA35;HUM00D2F10;RH78323;SHGC-148164;SHGC-14908;STS-Z11793 CH5400 OTTHUMP00000221372;OTTHUMP00000221373;coiled-coil domain-containing protein 152 protein-coding ENSG00000198865 HGNC:34438 VALIDATED 1604184 CCDC153 coiled-coil domain containing 153 INTERACTS WITH potassium dichromate (ortholog); rosiglitazone (ortholog); titanium dioxide (ortholog) 11 11 11 q23.3 116220804 116221252 - 119060963 119072160 - 119190226 119206235 - 6480464 12477932 283152 Q494R4 AA782908;AA909102;ABBA01039677;AMYH02025663;AP002956;BC043548;BC101443;BC101444;BC101986;CH471065;KF510123;NM_001145018;XM_006718816;XM_006718817;XM_006718818;XM_006718819;XM_006718820;XM_006718821;XM_006718822 AAI01444;AAI01445;AAI01987;EAW67475;NP_001138490;Q494R4;XP_006718879;XP_006718880;XP_006718881;XP_006718882;XP_006718883;XP_006718884;XP_006718885 Hs.114777 1682157;1779048 RH48721;RH79602 MGC125447;MGC125448 OTTHUMP00000232150;coiled-coil domain-containing protein 153 protein-coding HGNC:27446 18762 VALIDATED 1604878 CCDC157 coiled-coil domain containing 157 INTERACTS WITH phenobarbital (ortholog); pirinixic acid (ortholog) 22 22 22 q12.2 14552315 14572502 + 30752627 30772818 + 30356638 30377517 + 6480464 12477932;16344560;23870195;24639526 550631 A8MUK5;E7ETG3;E7EWT0;Q569K6 ABBA01055293;AC004997;AMYH02038214;BC018040;BC092419;BC119799;BC127255;CR936833;DA647196;DB636414;NM_001017437;XM_006724278;XM_006724279;XM_006724280 AAH92419;AAI19800;AAI27256;NP_001017437;Q569K6;XP_006724341;XP_006724342;XP_006724343 Hs.505597 5015619;5015861;5015959;5037552;7185938 D10S16;D10S2448;D11S3114;D8S2279 OTTHUMP00000198929;coiled-coil domain-containing protein 157 protein-coding ENSG00000187860 HGNC:33854 18686 VALIDATED 8550341 CCDC150P1 coiled-coil domain containing 150 pseudogene 1 12 12 12 122397222 122398895 - 122806721 122808394 - 122322174 122323847 - 100420678 ABBA01060471;AC048338;AMYH02027419;NG_024048;NG_030352 pseudo HGNC:50280 INFERRED 1602065 CCDC155 coiled-coil domain containing 155 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN chromosome, telomeric region (ortholog); INTERACTS WITH paracetamol; valproic acid (ortholog) 19 19 19 q13.33 46759093 46788876 + 49891475 49921256 + 49388218 49417999 + 6480464;8554872 11441184;12477932;14702039;16189514;16344560;16751776;18029348;22826121;23455924 147872 M0QX09;M0QXT3;M0QXW9;M0QZT9;M0QZW6;M0R1C7;Q8N6L0 ABBA01032930;AC010619;AC010643;AK057220;AK097696;AMYH02036317;BC029811;CH471177;DB024870;DB517121;NM_144688;XM_005258549;XM_006723037 AAH29811;BAB71384;EAW52476;EAW52477;EAW52478;NP_653289;Q8N6L0;XP_005258606;XP_006723100 Hs.662085 1675435;1700992;1783526;5105879 RH104123;RH92075;SHGC-151229;SHGC-152437 DKFZp434A2223;FLJ32658;KASH5 KASH domain-containing protein 5;coiled-coil domain-containing protein 155 protein-coding ENSG00000161609 HGNC:26520 08134 VALIDATED 2299193 CCDC154 coiled-coil domain containing 154 FOUND IN endosome (inferred) 16 16 16 p13.3 1696988 1707090 - 1484389 1494490 - 1434388 1444489 - 12477932;22895184 645811 A6NI56;B7ZBA8;H3BS06 ABBA01030306;AL031600;AL032819;AL137252;AMYH02031230;BC061641;JN935901;NM_001143980 A6NI56;AEW67365;NP_001137452 Hs.355232 1698850;2146001;2146003 A005U10;RH102989;RH12098 C16orf29 OTTHUMP00000205075;coiled-coil domain-containing protein 154 protein-coding ENSG00000197599 HGNC:34454 PROVISIONAL 1602411 CCDC158 coiled-coil domain containing 158 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH indole-3-methanol (ortholog); N-nitrosodiethylamine (ortholog) 4 4 4 q21.1 74534331 74628604 - 77234192 77333285 - 76312211 76421868 - 6480464;8554872 11752456;12477932;16189514;20383146;21282530 339965 Q5M9N0 ABBA01063358;ABBA01063359;ABBA01063360;AC034139;AC096743;AK098600;AK098636;AL832445;AMYH02009512;AMYH02009513;AV658624;BC035224;BC086869;CH471057;NM_001042784;XM_005262974;XM_006714199;XM_006714200;XM_006714201;XM_006714202;XM_006714203;XM_006714204;XM_006714205 AAH86869;AAI56682;BAC05347;BAC05359;EAX05788;EAX05789;EAX05790;EAX05791;EAX05792;NP_001036249;Q5M9N0;XP_005263031;XP_006714262;XP_006714263;XP_006714264;XP_006714265;XP_006714266;XP_006714267;XP_006714268 Hs.529680 1653815;1662243;1698172;1772419;2136200;2171966;2183463;5015619;5022578;5022649;5037552 D11S2875;D11S3114;D1S1423;D4S1198;D4S888;D8S2279;G34360;RH102622;SHGC-50351;SHGC-51009;SHGC-59559 FLJ25770;MGC35086 OTTHUMP00000219171;coiled-coil domain-containing protein 158 protein-coding ENSG00000163749 HGNC:26374 13395 VALIDATED 1603185 CCDC151 coiled-coil domain containing 151 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; disodium selenite 19 19 19 p13.2 11426123 11440715 - 11531272 11546853 - 11420605 11435159 - 6480464 12477932;14702039;16344560;23455924;24067530 115948 A5D8V7;B3KPH7;B4DXT0;K7EN59;K7EPB4;K7EPK8 ABBA01008952;ABBA01029855;ABBA01029856;AC008481;AC024575;AK056363;AK294355;AK302113;AK308072;AMYH02035530;BC014252;BC036041;BC050355;BC141828;BC142637;BC144421;BI548500;CH471106;DB040667;NM_145045 A5D8V7;AAH14252;AAI41829;AAI42638;AAI44422;BAG51689;BAG57620;BAG63492;EAW84213;EAW84214;NP_659482 Hs.124010 1697172 RH102074 FLJ31801;MGC20983 coiled-coil domain-containing protein 151;hypothetical protein mgc20983 protein-coding ENSG00000198003 HGNC:28303 10076 615956;616037 VALIDATED 1344430 CCDC162P coiled-coil domain containing 162, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 6 6 6 q21 110362092 110376014 + 109615506 109629423 + 109294303 109308220 + 6480464 11181995;12477932;14574404;15489334;19862010;20139978;23222517 221262 A2VCL2 ABBA01026128;AL359711;AMYH02014279;AX938506;AX957256;BC107113;BC107114;BC128118;BC128119;CH471051;NR_028595 A2VCL2;AAI07114;AAI28119;CAF04364;CAF05609;EAW48356;EAW48357 Hs.373914;Hs.723571 2145752;2150052 G35691;STS-T97500 C6orf184;C6orf185;CCDC162;MGC129804;MGC149201;bA425D10.3;bA425D10.7 APPROVED pseudo ENSG00000203799 HGNC:21565 PROVISIONAL 1352845 CCDC167 coiled-coil domain containing 167 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-nicotine; 5-aza-2'-deoxycytidine 6 6 6 p21.2 39005680 39022691 - 37450696 37467700 - 37482920 37499924 - 6480464 12477932;16344560;19204726;19734545;21103663;22053931;24250222 154467 Q5T7F6;Q9P0B6 ABBA01038285;AF161383;AL353597;AMYH02013569;AMYH02013570;BC003515;BC104835;BC108655;BE907609;CH471081;DA152306;NM_138493 AAF28943;AAH03515;AAI04836;AAI08656;EAX03947;NP_612502;Q9P0B6 Hs.284207 1755107;2175405;2184874 RH78051;SHGC-142037;SHGC-54168 C6orf129;HSPC265;MGC131656 OTTHUMP00000016329;OTTHUMP00000016330;coiled-coil domain-containing protein 167;transmembrane and coiled-coil domain-containing protein C6orf129 APPROVED protein-coding ENSG00000198937 HGNC:21239 18561 VALIDATED 4109693 CCDC168 coiled-coil domain containing 168 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 13 13 13 q33.1 84226147 84255852 - 103381717 103411422 - 102729367 102759072 - 8554872 11181995;14702039;15057823;21145461;21906983;21963094;22792062 643677 Q8NDH2 ABBA01027070;AK097495;AK125984;AL157769;AL833499;AL833908;AMYH02028626;AMYH02028627;CH471085;NM_001146197 BAC05076;CAD38764;EAX09063;NP_001139669;Q8NDH2 Hs.368382 1710248;1782982;2189967 99-24605;SHGC-81772;SHGC-85214 C13orf40;DKFZp434L2319;DKFZp686P1429;FLJ40176;FLJ43996 coiled-coil domain-containing protein 168;hypothetical protein LOC643677 APPROVED protein-coding ENSG00000175820 HGNC:26851 PROVISIONAL 2302126 CCDC169 coiled-coil domain containing 169 INTERACTS WITH methylmercury chloride; valproic acid 13 13 13 q13.3 17868356 17939180 - 36801179 36871992 - 36227042 36297855 - 6480464 11181995;12477932;14702039 728591 A6NNP5;E9PBZ7 AA861917;ABBA01021361;ABBA01021362;AK023568;AK131058;AK308999;AL139377;AMYH02027865;BC013944;BC037403;BC146975;BC171867;BC171872;BC171874;BC171880;BC171881;BC171882;BC171884;CH471075;DB454585;DN999189;NM_001144981;NM_001144982;NM_001144983;NM_001144984;NM_001144985;NM_001144986;NM_001198908 A6NNP5;AAI46976;AAI71867;AAI71872;AAI71874;AAI71880;AAI71881;AAI71882;AAI71884;EAX08553;EAX08557;NP_001138453;NP_001138454;NP_001138455;NP_001138456;NP_001138457;NP_001138458;NP_001185837 Hs.656745;Hs.730899 2117367 SHGC-56606 C13orf38;FLJ13506;FLJ29024;FLJ57222 OTTHUMP00000018256;OTTHUMP00000018257;OTTHUMP00000221741;OTTHUMP00000221742;OTTHUMP00000221743;OTTHUMP00000221744;OTTHUMP00000221745;OTTHUMP00000221746;RP11-251J8.1;coiled-coil domain-containing protein 169;hypothetical protein LOC728591 APPROVED protein-coding ENSG00000242715 HGNC:34361 VALIDATED 3566767 CCDC159 coiled-coil domain containing 159 INTERACTS WITH (S)-nicotine 19 19 19 p13.2 11352055 11360494 + 11457160 11465620 + 11346484 11354944 + 6480464 11181995;12477932;15057824;15489334;16713569;8889548 126075 K7EJK8;K7EKC7;K7EKR4;K7EKU9;K7EN56;K7ENC2;K7EPH8;P0C7I6 ABBA01029860;AC024575;AK127284;AK293611;AK301653;AK303641;AK316339;AMYH02035526;BC038439;CA848583;CB241007;CH471106;DC416232;NM_001080503;XM_005259734;XM_005259735;XM_005259736;XM_005259737;XM_006722642;XM_006722643;XM_006722644 BAG57074;BAG63130;BAG64645;BAH14710;EAW84198;EAW84199;NP_001073972;P0C7I6;XP_005259791;XP_005259792;XP_005259793;XP_005259794;XP_006722705;XP_006722706;XP_006722707 Hs.631636 5022322;5022578;5024039;5037552;5109281;5124558 D11S2560;D16S325;D1S1423;D1S1425;D8S2279;RH98197 FLJ45351;FLJ79238 coiled-coil domain-containing protein 159;coiled-coil domain-containing-like protein-coding ENSG00000183401 HGNC:26996 VALIDATED 3379453 CCDC160 coiled-coil domain containing 160 INTERACTS WITH all-trans-retinoic acid; pirinixic acid X X X q26.2 133757928 133766658 + 133371077 133380237 + 134237047 134246207 + 6480464 12477932;15772651 347475 A6NGH7 ABBA01042413;ABBA01042414;ABBA01042415;AC004409;AMYH02040525;BC017958;CH471107;KF459428;NM_001101357;XM_005262408;XM_005262409;XM_005262410 A6NGH7;EAX11768;NP_001094827;XP_005262465;XP_005262466;XP_005262467 Hs.679431 UPF0625 coiled-coil domain-containing protein ENSP00000359845;coiled-coil domain-containing protein 160 protein-coding ENSG00000203952 HGNC:37286 PROVISIONAL 3441755 CCDC163P coiled-coil domain containing 163, pseudogene INTERACTS WITH arsenite(3-) (ortholog); benzo[a]pyrene (ortholog); flutamide (ortholog) 1 1 1 p34.1 44242920 44249842 - 45959598 45965751 - 45493926 45500079 - 6480464 12477932;14702039;18672041 126661 B4DV03;E9PLD6;E9PN01;E9PNU9;E9PPK7;F2Z3K3 ABBA01050870;AK054714;AK300867;AL451136;AMYH02000930;BC036618;BC047421;BC101254;BC101255;BC101256;BC101257;BC113060;BC113061;CH471059;NR_033296;NR_033297;NR_033298 BAG62515;EAX06985 Hs.461300 1850935;2153347;5037552 D8S2279;HUM000S162;RH47166 C1orf231 pseudo HGNC:27003 VALIDATED 5134207 CCDC166 coiled-coil domain containing 166 INTERACTS WITH methylphenidate (ortholog); pentachlorophenol (ortholog) 8 8 8 q24.3 141099710 141101175 - 144788864 144790279 - 143706694 143708109 - 6480464 100130274 P0CW27 ABBA01005243;AC105219;AMYH02018947;CH471162;NM_001162914 EAW82208;NP_001156386;P0CW27 Hs.730002 OTTHUMP00000228638;coiled-coil domain containing 121-like;coiled-coil domain-containing protein 166 protein-coding ENSG00000255181 HGNC:41910 VALIDATED 1347710 CCDC175 coiled-coil domain containing 175 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH cadmium atom; potassium dichromate 14 14 14 q23.1 40020875 40092652 - 59971785 60043549 - 59505067 59576831 - 12508121;18029348 122847;729665 P0C221 AB069994;ABBA01018270;ABBA01018271;AL121694;AMYH02029290;NM_001164399 NP_001157871;P0C221 Hs.29706 1648155;1852486 AFM344VD1;G36035 c14_5395 coiled-coil domain-containing protein 175 APPROVED protein-coding ENSG00000151838 HGNC:19847 VALIDATED 1348248 CCDC174 coiled-coil domain containing 174 FOUND IN cytoplasm; nucleus; INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; formaldehyde 3 3 3 p25.1 14631500 14652414 + 14693253 14714166 + 14651746 14672659 + 737633;6480464 12477932 11042152;14702039;15342556;15489334;16189514;20379614;24816145 51244 Q6PII3 ABBA01025154;AC090952;AF151046;AI797763;AK091158;AK309525;AMYH02006322;BC005199;BC013999;BC033897;BF698254;BP195134;CH471055;NM_016474 AAF36132;AAH13999;AAH33897;EAW64203;NP_057558;Q6PII3 Hs.517820 1665426;1688255;1698138;1721575;2127708;2146930;2162814;2168378;5019655;5111218 D3S3898;G32358;G59797;RH102602;RH44671;RH48289;RH67044;SHGC-56876;STS-N41059;WI-11333 C3orf19;FLJ33839 OTTHUMP00000160274;OTTHUMP00000208217;coiled-coil domain-containing protein 174;hypothetical protein LOC51244;uncharacterized protein C3orf19 APPROVED protein-coding ENSG00000154781 HGNC:28033 12820 VALIDATED 1346141 CCDC172 coiled-coil domain containing 172 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH trichostatin A; valproic acid 10 10 10 q25.3 111813149 111868738 + 118083940 118139541 + 116324428 116380029 + 737633;6480464;8554872 12477932 17207965;20379614;23455924 374355 P0C7W6 ABBA01062959;AC011328;AJ457798;AMYH02023869;BC044830;CH471066;NM_198515;XM_006717820 AAH44830;ADQ33001;EAW49454;EAW49455;NP_940917;P0C7W6;XP_006717883 Hs.233407 1678535;1703474 RH67627;SHGC-82584 C10orf96;MGC35062 OTTHUMP00000020562;UPF0628 protein C10orf96;coiled-coil domain-containing protein 172;hypothetical protein LOC374355 APPROVED protein-coding ENSG00000182645 HGNC:30524 18604 VALIDATED 1603565 CCDC17 coiled-coil domain containing 17 INTERACTS WITH aflatoxin B1; amiodarone; atrazine 1 1 1 p34.1 44369706 44373721 - 46085716 46090424 - 45620044 45624765 - 6480464 12477932;14702039;16169070;8889548 149483 F2Z395;F8W7G4;Q96LX7 ABBA01050862;AK057646;AK298104;AK303939;AK310879;AL355480;AMYH02000935;BC029888;BC065201;BC110988;BC128177;BC128178;BU677500;CH471059;DC359257;DC414623;NM_001114938;NM_001190182;XM_005270534;XM_006710388;XM_006710389;XR_426588 AAH29888;AAI28178;AAI28179;BAB71539;BAG60389;BAG64867;EAX06961;EAX06962;EAX06963;NP_001108410;NP_001177111;Q96LX7;XP_005270591;XP_006710451;XP_006710452 Hs.18912 1769591;2138334 SHGC-74701;SHGC-74703 FLJ17921;FLJ33084;RP4-697E16.4 OTTHUMP00000009505;OTTHUMP00000009506;OTTHUMP00000231397;OTTHUMP00000231398;coiled-coil domain-containing protein 17 protein-coding ENSG00000159588 HGNC:26574 08155 VALIDATED 2298833 CCDC173 coiled-coil domain containing 173 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH methyl methanesulfonate; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q31.1 164120771 164169738 - 170501935 170550931 - 169645425 169694421 - 6480464;8554872 12477932;20379614;8889548 129881 B4DX81;C9J9F8;C9JQ25;Q0VFZ6 ABBA01014891;ABBA01014892;AC016772;AK301851;AMYH02005187;AMYH02005188;AMYH02005189;BC015980;BC065905;BC117445;BQ432665;CB250451;CH471058;NM_001085447 AAH15980;AAI17446;BAG63293;EAX11265;NP_001078916;Q0VFZ6 Hs.370111 1675009;2169994 A004Q48;SHGC-31767 C2orf77 OTTHUMP00000205101;coiled-coil domain-containing protein 173;hypothetical protein LOC129881;uncharacterized protein C2orf77 APPROVED protein-coding ENSG00000154479 HGNC:25064 VALIDATED 5013869 CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] 13 13 q 36742345 36871992 - 36168208 36297855 - 6480464 20967262;21963094;22566634 100526761 Q9NX45 ABBA01021361;ABBA01021362;ABBA01021363;AK301863;AL139377;AL160392;AMYH02027865;NM_001198910 BAG63302;NP_001185839 Hs.124519 C13orf38-SOHLH2;FLJ57222;KIAA0369;KIAA0610 C13orf38-SOHLH2 fusion protein;OTTHUMP00000221747;OTTHUMP00000235376 APPROVED protein-coding ENSG00000120669;ENSG00000250709 HGNC:38866 VALIDATED 1322133 CCDC170 coiled-coil domain containing 170 The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010] 6 6 6 q25.1 152549039 152676191 + 151815175 151942328 + 151494030 151621193 + 6480464;8554872 12477932;14574404;14702039;15489334;16344560;18445777;19079262;19801982;20200978;20453838;20661439;21263130;21540461;22145905;22504420;23437003;23535729;24249740;24325915;24430505;8125298;8889548 80129 Q8IYT3 ABBA01025633;ABBA01025634;ABBA01025635;AK026958;AK027300;AK225330;AL359494;AL590543;AMYH02014726;BC035003;BC060803;BI562667;BM677624;BM984518;BQ706948;CB306458;CH471051;DB232703;NG_021198;NM_025059;XM_006715568 AAH60803;BAB15602;BAB55025;EAW47743;NP_079335;Q8IYT3;XP_006715631 Hs.660044 1655320;1658212;1659355;2124421;5015959;5024543 D10S2448;D1S3690;D6S1255;D6S1305;RH35682;RH65963 C6orf97;FLJ23305;bA282P11.1 OTTHUMP00000017435;coiled-coil domain-containing protein 170;coiled-coil domain-containing protein C6orf97;hypothetical protein LOC80129 APPROVED protein-coding ENSG00000120262 HGNC:21177 10797 VALIDATED 1348779 CCDC171 coiled-coil domain containing 171 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH atrazine; melphalan; potassium dichromate 9 9 9 p22.3 15486980 15899187 + 15552872 15971897 + 15552874 15971899 + 737633;6480464;8554872 12477932 14702039;15164053;15489334;20379614;24250222 203238 H0Y5M5;H0Y701;Q6TFL3;Q7Z3F8 ABBA01065262;ABBA01065263;ABBA01065264;ABBA01065265;ABBA01065266;ABBA01065267;ABBA01065268;ABBA01065269;ABBA01065270;ABBA01065271;ABBA01065272;ABBA01065273;ABBA01065274;ABBA01065275;AF440401;AK094506;AK096586;AK128581;AK308284;AL359877;AL513423;AL592153;AL662788;AL832443;AMYH02019212;AMYH02019213;AMYH02019214;AMYH02019215;AMYH02019216;AMYH02019217;AMYH02019218;AMYH02019219;AY422473;BC026063;BC040738;BC064849;BC144214;BC150600;BX537933;CH471071;CR936775;NM_173550;XM_005251397;XM_005251398;XM_005251399 AAH26063;AAH64849;AAI44215;AAI50601;AAM20913;AAR13704;BAC04370;BAC04823;BAC87511;CAD97907;CAH10655;EAW58674;NP_775821;Q6TFL3;XP_005251454;XP_005251455;XP_005251456 Hs.17267 1648200;1652318;1700294;1700720;1723803;1750953;2115017;2125925;2172351 RH103766;RH103985;RH118639;SHGC-104806;SHGC-14223;SHGC-18062;STS-N22831;STS-N25982;WI-16839 C9orf93;DKFZp686P12113;FLJ39267;FLJ46740;MGC50805;bA536D16.1;bA778P13.1 OTTHUMP00000021073;coiled-coil domain-containing protein 171;hypothetical protein LOC203238;myosin tail domain containing protein;uncharacterized protein C9orf93 APPROVED protein-coding HGNC:29828 10805 PROVISIONAL 1354013 CCDC177 coiled-coil domain containing 177 INTERACTS WITH all-trans-retinoic acid; paraoxon; valproic acid 14 14 14 q24.1 50100643 50102030 - 70036531 70041600 - 69569814 69574883 - 6480464 12477932;15489334 56936 Q9NQR7 ABBA01030826;AF284217;AK312175;AL133445;AMYH02029436;BC105025;BC105027;CH471061;NM_001271507 AAF86288;BAG35108;EAW80999;NP_001258436;Q9NQR7 Hs.458319 2220674 UniSTS:490166 C14orf162;PLPL coiled-coil domain-containing protein 177;myelin proteolipid protein-like protein;uncharacterized protein C14orf162 APPROVED protein-coding ENSG00000267909 HGNC:23243 16614 INFERRED 7205404 CCDC179 coiled-coil domain containing 179 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl (ortholog) 11 11 p14.2 22868468 22881972 - 22846922 22860426 - 6480464;8554872 100500938 H3BU77 ABBA01061014;AC006299;AI651461;AMYH02024438;AMYH02024439;NM_001195637 H3BU77;NP_001182566 Hs.555029 coiled-coil domain-containing protein 179;uncharacterized protein LOC100500938 protein-coding ENSG00000255359 HGNC:44653 VALIDATED 1346239 CCDC176 coiled-coil domain containing 176 INVOLVED IN motile cilium assembly (ortholog); ASSOCIATED WITH Methylmalonate Semialdehyde Dehydrogenase Deficiency (inferred); FOUND IN ciliary basal body (ortholog); INTERACTS WITH acetylsalicylic acid; cyclosporin A; methyl methanesulfonate 14 14 14 q24.3 54523011 54569747 + 74486054 74532795 + 74019351 74066092 + 6480464;8554872 12477932;14702039;15489334;17081983;18029348;22990118;24250222 80127 B3KUM1;G3V335;G3V488;Q8ND07 ABBA01030733;ABBA01030734;ABBA01030735;ABBA01030736;AC005484;AK026842;AK097531;AL834487;AMYH02029505;AMYH02029506;AMYH02029507;AMYH02029508;BC044808;BC104979;BC104981;CH471061;DB484577;DB493409;NG_033060;NM_025057;XM_005268092;XM_005268093;XM_005268094;XM_005268095;XM_005268096;XM_005268097;XM_005268098;XR_245725 AAI04980;AAI04982;BAB15572;BAG53483;CAD39145;EAW81157;NP_079333;Q8ND07;XP_005268149;XP_005268150;XP_005268151;XP_005268152;XP_005268153;XP_005268154;XP_005268155 Hs.644621 1336224;1652525;1669587;1675724;1688963;1721531;2110249;2127101;2150696;2185989 ALDH6A1_3184;D14S986;G36322;G59620;RH46132;RH67790;RH69632;RH92479;SHGC-54582;STS-R00273 C14orf45;FLJ23189 OTTHUMP00000202402;basal body-orientation factor 1;coiled-coil domain-containing protein 176;hypothetical protein LOC80127;uncharacterized protein C14orf45 APPROVED protein-coding ENSG00000119636 HGNC:19855 12650 VALIDATED 6766486 CCDC183-AS1 CCDC183 antisense RNA 1 9 9 9 q34.3 110212147 110217068 - 139698379 139703300 - 136803927 136808848 - 11181995;14702039;16344560 100131193 Q96NE7 ABBA01022721;ABBA01022722;AK055547;AL355987;AMYH02021911;CH471090;DA710348;HG502551;NG_031950;NR_024580 BAB70952;EAW88280 Hs.734812 KIAA1984-AS1;RP11-216L13.8 APPROVED ncrna ENSG00000228544 HGNC:44105 VALIDATED 7407969 CCDC182 coiled-coil domain containing 182 INVOLVED IN female gonad development (ortholog) 17 17 55821846 55822713 - 57744481 57745329 - 16625196;22675492 101927581 A6NF36 ABBA01041316;AC005325;AMYH02033676;AX972249;BE504978;CH471109;EG357680;EG357681;NM_001282544 A6NF36;CAF17357;EAW94504;NP_001269473 Hs.540784 coiled-coil domain-containing protein 182;coiled-coil domain-containing protein ENSP00000299415 protein-coding ENSG00000166329 HGNC:49392 VALIDATED 1605794 CCDC184 coiled-coil domain containing 184 FOUND IN cytoplasm; INTERACTS WITH valproic acid 12 12 12 q13.11 47375335 47377425 + 48577366 48579709 + 48183583 48185926 + 6480464 11076863;11256614;12477932;14702039;15489336;16381901;20379614;21145461 387856 Q52MB2 ABBA01031477;AC074029;AK056003;AK056783;AMYH02026419;BC036801;BC049387;CH471111;DB483736;NM_001013635 AAH36801;BAB71071;BAB71283;CAL37738;EAW57977;NP_001013657;Q52MB2 Hs.251699 1849252;2183166 D12S1929;WI-21851 C12orf68 OTTHUMP00000242442;coiled-coil domain-containing protein 184;hypothetical protein LOC387856;uncharacterized protein C12orf68 APPROVED protein-coding ENSG00000177875 HGNC:33749 18375 VALIDATED 1601798 CCDC18 coiled-coil domain containing 18 INTERACTS WITH (-)-epigallocatechin 3-gallate; 1-nitropyrene; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 p22.1 91900087 91998449 + 93646038 93744769 + 93180506 93279211 + 6480464 12477932;12601173;21963094 343099 E9PFB9;H0YCD6;H0YDP2;H7C0C9;J3KP97;Q5T9S2;Q5T9S5;Q6PH87 AA278251;ABBA01045526;AC126124;AK126045;AL139421;AMYH02001494;AMYH02001495;AW444474;AY211914;AY211918;BC056667;BX099893;BX538286;CA428763;CH471097;NM_206886;XM_006710609;XM_006710610;XM_006710611;XM_006710612 AAH56667;AAI52763;AAI56746;AAO65167;AAO65171;BAC86410;CAD98081;EAW73078;EAW73079;EAW73080;NP_996769;Q5T9S5;XP_006710672;XP_006710673;XP_006710674;XP_006710675 Hs.482873;Hs.745125 1337642;1692074;1693254;1714183;1797206 AL033579;AL033677;D1S2779;LOC348363;RH119701 NY-SAR-41;RP4-717I23.1;dJ717I23.1 OTTHUMP00000012325;OTTHUMP00000012326;OTTHUMP00000228706;coiled-coil domain-containing protein 18;sarcoma antigen NY-SAR-24;sarcoma antigen NY-SAR-41 protein-coding ENSG00000122483 HGNC:30370 VALIDATED 1602974 CCDC185 coiled-coil domain containing 185 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q41 196786071 196788168 + 223566715 223568812 + 223393373 223395470 + 8554872 12477932;14702039;15489334;16189514;16710414 164127 Q8N715 ABBA01006372;AK093047;AL590669;AMYH02002756;BC030026;BC031066;CH471100;DB446947;NM_152610 AAH30026;AAH31066;ADZ16013;BAC04033;EAW93256;NP_689823;Q8N715 Hs.192090 C1orf65;FLJ35728;RP11-76K24.1 OTTHUMP00000036091;coiled-coil domain-containing protein 185;hypothetical protein LOC164127;uncharacterized protein C1orf65 APPROVED protein-coding ENSG00000178395 HGNC:26654 08761 VALIDATED 1602471 CCDC181 coiled-coil domain containing 181 FOUND IN nucleus; INTERACTS WITH theophylline; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); nickel dichloride (ortholog) 1 1 1 q24 142473892 142506452 - 169364108 169429907 - 169394870 169460669 - 6480464 12477932;15231748;18029348;19536175;23918943;24250222;8125298 57821 Q5TID7;X6RJ50 ABBA01027952;AK098712;AK223354;AK313598;AL021068;AL049687;AMYH02002112;BC008388;BC008389;BC026073;BC041451;BG206257;CH471067;KF455061;NM_001300968;NM_001300969;NM_021179;XM_005245381;XM_005245382;XM_005245383;XM_005245384 AAH26073;BAD97074;BAG36364;CAB41258;EAW90840;EAW90841;NP_001287897;NP_001287898;NP_067002;Q5TID7;XP_005245438;XP_005245439;XP_005245440;XP_005245441 Hs.567557;Hs.708673 1656813;1677094;1700772;2109087 BLZF1_8827;RH104011;RH65485;RH92136 C1orf114;FLJ25846;RP1-206D15.2 OTTHUMP00000033494;OTTHUMP00000033495;coiled-coil domain-containing protein 181;uncharacterized protein C1orf114 APPROVED protein-coding ENSG00000117477 HGNC:28051 14258 VALIDATED 4110705 CCDC180 coiled-coil domain containing 180 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome 9 9 9 q22.33 70584270 70653930 + 100069910 100139577 + 97307628 97377295 + 8554872 10819331;11181995;12477932;14702039;15164053;15489334;16344560;17924679;17974005;18978678;19056867 100499483 B4DZK1;Q9P1Z9 ABBA01042933;AK123391;AK302965;AL137557;AL512590;AMYH02021306;AMYH02021307;BC047097;CH471105;CR627453;CR749320;DB050504;NM_020893 AAH47097;BAG64113;CAH10534;CAH10701;CAH18175;EAW58840;EAW58841;NP_065944;Q9P1Z9 Hs.435629 1726665;1780008;5014051;5015619;5037552;5112283 D11S3114;D8S2278;D8S2279;G62568;RH103003;SHGC-154259 BDAG1;C9orf174;DKFZp434I2420;DKFZp686B2031;DKFZp686G1725;FLJ41397;FLJ50036;KIAA1529 Behcet's Disease Associated Gene 1;OTTHUMP00000229402;coiled-coil domain-containing protein 180;hypothetical protein LOC100499483;uncharacterized protein C9orf174 APPROVED protein-coding ENSG00000197816 HGNC:29303 VALIDATED 1350546 CCDC183 coiled-coil domain containing 183 INTERACTS WITH copper(2+) sulfate 9 9 9 q34.3 110204424 110215961 + 139690033 139702364 + 136796338 136807741 + 737633;6480464 12477932 11853319;14702039;16344560;16582619;21048031;24250222 84960 G5E9W6;Q5T5S1;Q96IG8 ABBA01022721;AK090683;AK092639;AL355987;AMYH02021911;AW572474;BC064582;BC137317;BC137318;BF979345;DA235138;DB446839;NM_001039374 AAH64582;AAI37318;AAI37319;BAC03504;BAC03931;NP_001034463;Q5T5S1 Hs.728796 KIAA1984;MGC15438;PARF;RP11-216L13.7;RP11-216L13.9;bA216L13.7 OTTHUMP00000215032;OTTHUMP00000215033;coiled-coil domain-containing protein 183;hypothetical protein LOC84960;uncharacterized coiled-coil domain-containing protein KIAA1984 APPROVED protein-coding ENSG00000213213 HGNC:28236 17234 615955 VALIDATED 1352329 CCDC22 coiled-coil domain containing 22 This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013] X X X p11.23 52557382 52572443 - 49091927 49106987 + 49235467 49250526 + 737633;6480464;8554872 12477932 12522145;15489334;17478047;18029348;19204726;20237496;20398921;21139048;21826058;21890473;21906983;21988832;22070227;22505724;22797925;23563313;24916641;8889548 28952 O60826 ABBA01046141;ABBA01046142;AC232271;AF235097;AJ005890;AK291976;AK296911;AK298264;AK316375;AMYH02039324;BC000972;BC011675;BG912845;BM146102;CH471224;DC340647;NG_021311;NM_014008;XM_005272599;XR_430506 AAH00972;AAH11675;ABM85096;ABW03374;BAF84665;BAG59466;BAG60528;BAH14746;CAA06747;EAW50674;EAW50675;EAW50676;NP_054727;O60826;XP_005272656 Hs.26333 1339854;1678085;1754167;2162098;7186118 DXS1208;DXS9795;RH99318;SHGC-132193 CXorf37;JM1 OTTHUMP00000025839;chromosome x open reading frame 37;coiled-coil domain-containing protein 22 APPROVED protein-coding ENSG00000101997 HGNC:28909 06594 300859 REVIEWED 1605525 CCDC23 coiled-coil domain containing 23 INVOLVED IN negative regulation of endothelial cell migration; negative regulation of protein ubiquitination; protein secretion; FOUND IN apical part of cell; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; coumestrol 1 1 1 p34.2 41554652 41565039 - 43272723 43283059 - 42807052 42817388 - 6480464 12477932;15489334;16710414;20736312;22614011;24250222;24816145;8889548 374969 Q8N300 ABBA01050971;ABBA01050972;ABBA01050973;AC098484;AK291356;AL512353;AMYH02000885;AMYH02000886;BC029427;BM675639;BQ712089;CH471059;NM_199342 AAH29427;BAF84045;EAX07134;EAX07135;NP_955374;Q8N300 Hs.113919 1688030;2174740;2176307;5092690 A005Q11;G32266;RH98844;SHGC-74676 OTTHUMP00000008831;coiled-coil domain-containing protein 23 protein-coding ENSG00000177868 HGNC:29204 14191 VALIDATED 1317773 CCDC178 coiled-coil domain containing 178 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; cyclosporin A; indole-3-methanol (ortholog) 18 18 18 q12.1 27325560 27828679 - 30517225 31020685 - 32937402 33440721 - 737633;6480464;8554872 12477932 14702039;15489334;17081983;20379614;22219177;23934736 374864 A1L4G8;F8W7A7;J3KRT5;J3KSU3;J3QKU2;J3QRM8;Q5BJE1 ABBA01022470;ABBA01022471;ABBA01022472;ABBA01022473;ABBA01022474;ABBA01022475;ABBA01022476;ABBA01022477;AC025888;AC090371;AC100845;AC104956;AC116607;AK000027;AK126038;AK129955;AMYH02034531;AMYH02034532;AMYH02034533;AMYH02034534;AMYH02034535;AMYH02034536;AMYH02034537;BC062719;BC091517;BC130535;BC144178;BC144179;CH471088;KF456365;NM_001105528;NM_198995 AAH62719;AAH91517;AAI30536;AAI44179;ADR83389;BAC85257;BAC86407;EAX01301;NP_001098998;NP_945346;Q5BJE1 Hs.115461 1673970;1682956;1708674;1718301;1720663;1731713;1752023;1755431;1776918;2127197;5094124 AFM164ya9;AFM234VC11;D18S519;D18S987;G54559;G59142;RH122922;RH92259;SHGC-105995;SHGC-142305;SHGC-81478 C18orf34;FLJ44050;MGC111498;MGC163407 OTTHUMP00000163120;OTTHUMP00000163121;coiled-coil domain-containing protein 178;hypothetical protein LOC374864;uncharacterized protein C18orf34 APPROVED protein-coding ENSG00000166960 HGNC:29588 12691 VALIDATED 1316183 CCDC186 coiled-coil domain containing 186 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-fluorouracil; all-trans-retinoic acid; copper(2+) sulfate 10 10 10 q25.3 109611151 109663535 - 115880615 115934364 - 114120856 114174605 - 737633;1299549;6480464;8554872 12477932;12783626 11076863;11230166;14702039;14996095;15489334;15489336;16381901;20936779;21139048;21900206;21906983;23824909;24816145 55088 H0Y7V5;Q7Z3E2 ABBA01062982;AC022023;AF273054;AI143965;AK001050;AK024739;AK057508;AK092620;AK094498;AK307517;AL834368;AMYH02023848;BC020842;BC022229;BC030557;BC070368;BC100670;BC103499;BC103504;BC105632;BC107430;BC152306;BK001329;BX537964;BX643041;NM_018017;XM_005269937 AAH20842;AAH22229;AAH70368;AAI00671;AAI03500;AAI05633;AAI07431;AAI52307;AAM44457;BAA91480;BAC03926;BAG51924;CAD39031;CAD97928;CAL37501;DAA01463;NP_060487;Q7Z3E2;XP_005269994 Hs.159066;Hs.603328 C10orf118;FLJ10188;FLJ35301;MGC118918;MGC129699 CTCL tumor antigen HD-CL-01/L14-2;CTCL tumor antigen L14-2;OTTHUMP00000020520;OTTHUMP00000020523;coiled-coil domain-containing protein 186;uncharacterized protein C10orf118 APPROVED protein-coding ENSG00000165813 HGNC:24349 16576 VALIDATED 1351078 CCDC28A coiled-coil domain containing 28A This gene is located in a region close to the locus of the pseudogene of chemokine (C-C motif) receptor-like 1 on chromosome 6. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 6 6 6 q23.1-q24.1 139834761 139854557 + 139094657 139114456 + 138773520 138793319 + 6480464;8554872 12477932;14574404;15489334;16028218;19322201;21139048;22058212;23602568 25901 Q8IWP9 ABBA01025806;AJ420568;AK300672;AL050197;AL121834;AMYH02014585;AY167571;BC000758;BC004464;BC013019;BC080566;BC108717;CH471051;NM_015439 AAH04464;AAH13019;AAH80566;AAI08718;AAN87344;BAG62357;CAB43315;EAW47910;EAW47911;NP_056254;Q8IWP9 Hs.412019 1658308;1665293;2124793 RH46863;SHGC-31193;STS-N33316 C6orf80;CCRL1AP;DKFZp586D0623;MGC131913 OTTHUMP00000017302;chemokine C-C motif receptor-like 1 adjacent;coiled-coil domain-containing protein 28A APPROVED protein-coding ENSG00000024862 HGNC:21098 09857 615353 VALIDATED 1603566 CCDC24 coiled-coil domain containing 24 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH calcitriol; testosterone; tunicamycin 1 1 1 p34.1 42740817 42745738 + 44457280 44462200 + 43991608 43996528 + 6480464;8554872 12477932;14702039;15489334;16710414;17043677;17207965 149473 Q6MZH0;Q8N4L8;V9GY72;V9GYB9;V9GYE2;V9GYM6 ABBA01050934;AK092569;AL139220;AMYH02000912;AY487420;BC033868;BC047313;BX641142;CH471059;NM_152499;XM_005270524 AAH33868;AAH47313;AAR39430;ADQ31638;CAE46063;EAX07058;EAX07059;EAX07060;EAX07061;NP_689712;Q8N4L8;XP_005270581 Hs.632394 1662251;1669277;2191321;2218288 B4GALT2_4418;MARC_17364-17365:1033586704:3;RH78692;SHGC-74711 MGC45441;RP5-1198O20.2 OTTHUMP00000010013;coiled-coil domain-containing protein 24 protein-coding ENSG00000159214 HGNC:28688 14636 PROVISIONAL 1602432 CCDC27 coiled-coil domain containing 27 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4'-tetrachlorobiphenyl (ortholog); aflatoxin B1 (ortholog) 1 1 1 p36.32 2923006 2942247 + 3668965 3688209 + 3752401 3771645 + 6480464;8554872 12477932;14702039;15489334;16344560;16710414;18597038;20379614;22589738;23251661;23720494 148870 J3QKX2;Q2M243 ABBA01073653;AK057387;AL136528;AL365330;AMYH02000138;BC112108;BC112112;CH471130;DB048639;NM_152492 AAI12109;AAI12113;BAB71462;EAW71476;EAW71477;NP_689705;Q2M243 Hs.348700 1692012;1700780;1733056 AL033657;D1S1403;RH104015 FLJ32825;MGC138313;MGC138317;RP1-286D6.1 OTTHUMP00000003588;coiled-coil domain-containing protein 27 protein-coding ENSG00000162592 HGNC:26546 08141 VALIDATED 1603961 CCDC28B coiled-coil domain containing 28B The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 p36.11-p34.2 30936104 30940893 + 32666202 32670991 + 32200386 32205390 + 6480464;7240710 12477932;14702039;15489334;16327777;16344560;16710414;17207965;19402160;20301537;21832049;23015189;23727834;24250222;8125298;8889548 79140 E9PM03;E9PM81;Q9BUN5 ABBA01023437;AK092702;AK225113;AK291904;AL049795;AMYH02000705;BC002462;BC022848;BM981930;CH471059;DA899719;NG_012178;NM_001301011;NM_024296;XM_006710892;XM_006710893 AAH22848;ADQ32629;BAF84593;EAX07563;EAX07564;NP_001287940;NP_077272;Q9BUN5;XP_006710955;XP_006710956 Hs.534482 MGC1203;MGC16441;RP4-622L5.5 OTTHUMP00000006371;OTTHUMP00000006372;coiled-coil domain-containing protein 28B APPROVED protein-coding ENSG00000160050 HGNC:28163 14422 209900;610162 REVIEWED 1602211 CCDC33 coiled-coil domain containing 33 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH atrazine; C60 fullerene (ortholog); N-nitrosodiethylamine (ortholog) 15 15 15 q24.1 51477090 51577123 + 74528630 74628813 + 74217222 74336578 + 6480464;8554872 12477932;14702039;15342556;16189514;16344560;16713569;19240061;19447967;20068295;20379614;21832049;23088713;23251661;23443559;24722188 80125 H0YMB8;Q8N5R6 ABBA01060486;AC023300;AC090826;AI223423;AK026821;AK057417;AK290709;AK310852;AMYH02030789;BC009178;BC025689;BC031684;BP292996;CH471136;DB049940;DB070410;DB078117;NM_001287181;NM_025055;NM_182791;NR_108023;XM_005254692;XM_006720697;XM_006720698 AAH31684;BAB15564;BAF83398;BAG51911;EAW99343;EAW99344;EAW99345;EAW99346;EAW99347;NP_001274110;NP_079331;NP_877592;Q8N5R6;XP_005254749;XP_006720760;XP_006720761 Hs.383206;Hs.621342 1338877;1342213;1722933;1763931 D15S1001;D15S991;G60564;SHGC-147595 CT61;FLJ23168;FLJ32855;MGC34145 cancer/testis antigen 61;coiled-coil domain-containing protein 33 protein-coding ENSG00000140481 HGNC:26552 09959 VALIDATED 1605539 CCDC36 coiled-coil domain containing 36 INTERACTS WITH silicon dioxide 3 3 3 p21.31 49193717 49258916 + 49235861 49295636 + 49198428 49258201 + 6480464 12477932;24722188 339834 B4DZP6;Q8IYA8 AA858032;ABBA01024602;ABBA01024603;ABBA01024604;ABBA01024605;AC121247;AC135506;AK058049;AK303033;AMYH02006746;AMYH02006747;AMYH02006748;BC015057;BC036202;CH471055;KF457636;NM_001135197;NM_178173;XM_005265099;XM_005265100;XM_006713124 AAH36202;ADZ16026;BAB71640;BAG64158;EAW64965;EAW64966;NP_001128669;NP_835467;Q8IYA8;XP_005265156;XP_005265157;XP_006713187 Hs.631931 1660641;1701436;5014051;5022578 D1S1423;D3S4019;D8S2278;RH104350 CT74;FLJ25320 OTTHUMP00000208932;OTTHUMP00000208933;cancer/testis antigen 74;coiled-coil domain-containing protein 36 protein-coding ENSG00000173421 HGNC:27945 14172 VALIDATED 6484038 CCDC34P1 coiled-coil domain containing 34 pseudogene 1 4 4 4 q25 110282589 110283111 + 112989162 112989684 + 112068006 112068528 + 100288584 ABBA01063812;AC093663;AMYH02009931;NG_022070 pseudo HGNC:44008 INFERRED 1605139 CCDC30 coiled-coil domain containing 30 FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; hydrogen peroxide; theophylline 1 1 1 p34.2 41282491 41402263 + 43000560 43120335 + 42534889 42654664 + 6480464 16710767 728621 B4DXQ2;D6RB86;D6RFH8;Q5VVM6 ABBA01023129;ABBA01023130;ABBA01023131;AC098484;AK024625;AK302075;AL138788;AL445669;AL832217;AMYH02000879;AMYH02000880;AMYH02000881;AY639646;BX640642;DC397297;NM_001080850 AAX19141;BAB14936;BAG63464;CAE45789;NP_001074319;Q5VVM6 Hs.729640 1335597;1341823;1668273;1701182;2160386;2167874;5014051;5015961;5020885;5021872;5022322;5022651;5024413;5037552;5109281;7187431 AL009878;D11S2560;D11S2921;D15S1477;D1S1425;D1S1702;D1S193;D1S2861;D8S2278;D8S2279;L17791;L17877;RH104219;WI-15744;sY3084 FLJ20972;PFD6L;PFDN6L OTTHUMP00000008584;OTTHUMP00000222509;coiled-coil domain-containing protein 30;prefoldin 6-like;prefoldin subunit 6-like protein protein-coding ENSG00000186409 HGNC:26103 08632 VALIDATED 1605370 CCDC25 coiled-coil domain containing 25 FOUND IN extracellular vesicular exosome; INTERACTS WITH 2-methylcholine; cadmium dichloride; cobalt dichloride 8 8 8 p21.1 26550714 26590067 - 27590833 27630170 - 27733316 27772653 - 6480464 12477932;14702039;15345747;15489334;16344560;17081983;19322201;20379614;22379092;24816145 55246 B7Z2L8;E5RI21;G3V121;Q0VGD4;Q86WR0 ABBA01005592;ABBA01005593;AC013643;AC104997;AK001715;AK027900;AK292875;AK294848;AK311437;AK316015;AMYH02017675;AX877371;BC006239;BC032588;BC049197;BC054039;BC065295;BC110391;CH471080;DA218015;NM_018246;XM_005273563 AAH06239;AAH32588;AAH49197;AAH54039;AAH65295;AAI10392;BAA91857;BAB55442;BAF85564;BAH11904;BAH14386;CAE89696;EAW63539;EAW63540;EAW63541;EAW63542;EAW63543;NP_060716;Q86WR0;XP_005273620 Hs.445512 1653825;1679603;2120040;2172210 A005K31;RH48464;RH66509;WI-12131 FLJ10853 OTTHUMP00000163035;OTTHUMP00000225312;OTTHUMP00000225313;OTTHUMP00000225315;coiled-coil domain-containing protein 25 protein-coding ENSG00000147419 HGNC:25591 07705 VALIDATED 6481202 CCDC39-AS1 CCDC39 antisense RNA 1 100874112 AC068298 APPROVED ncrna HGNC:41089 1605540 CCDC39 coiled-coil domain containing 39 The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011] 3 3 3 q26.33 178763919 178829392 - 180331360 180397300 - 180614008 180679495 - 6480464;8699517;7240710;8554872 11256614;11329013;12477932;20301301;20379614;21131972;21145461;22693285;23255504;24515614 339829 C9IZC4;F8WBW2;H7C4X6;H7C5I6;Q9UFE4 ABBA01058515;AC068298;AK304270;AL122120;AMYH02008237;AMYH02008238;BG205877;DC399927;NG_029581;NM_181426 BAG65133;CAB59277;NP_852091;Q9UFE4 Hs.712820 1645368;1855293 RH66248;WI-11544 CILD14;DKFZp434A128;FAP59 OTTHUMP00000212526;OTTHUMP00000212527;coiled-coil domain-containing protein 39 APPROVED protein-coding ENSG00000145075 HGNC:25244 613798;613807 REVIEWED 1603366 CCDC38 coiled-coil domain containing 38 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH fonofos; hydrogen peroxide; parathion 12 12 12 q23.1 95929959 96005323 - 96260826 96336428 - 95867048 95942650 - 6480464;8554872 12477932;14702039;15489334;20379614;21946350;23284291 120935 F8VRK3;F8VTU7;F8VY05;H0YHI1;Q502W7 ABBA01053320;ABBA01053321;AC090001;AC126174;AK097408;AMYH02026990;AMYH02026991;BC047659;BC095479;CH471054;NM_182496;XM_006719229;XM_006719230;XR_429080 AAH95479;BAC05038;EAW97550;EAW97551;NP_872302;Q502W7;XP_006719292;XP_006719293 Hs.210377 1676236 RH93038 FLJ40089 OTTHUMP00000243555;coiled-coil domain-containing protein 38 protein-coding ENSG00000165972 HGNC:26843 08268 VALIDATED 1606993 CCDC34 coiled-coil domain containing 34 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; aflatoxin B1 11 11 11 p14.1 27504487 27530149 - 27360061 27384795 - 27338514 27363248 - 6480464 10508479;11173847;12477932;15334068;17207965 91057 Q96HJ3 ABBA01060973;ABBA01060974;AC090597;AF155108;AF301222;AF382034;AK308494;AK313358;AL555720;AMYH02024500;AMYH02024501;AY598334;BC008496;BC029421;BU595712;CH471064;NM_030771;NM_080654 AAD42874;AAG39935;AAH08496;AAO13807;AAT06745;ADQ31630;BAG36159;EAW68287;EAW68288;EAW68289;NP_110398;NP_542385;Q96HJ3 Hs.143733 1668956;1675710 RH47720;RH92404 L15;NY-REN-41;RAMA3 NY-REN-41 antigen;OTTHUMP00000232172;OTTHUMP00000232173;coiled-coil domain-containing protein 34;renal carcinoma antigen NY-REN-41 protein-coding ENSG00000109881 HGNC:25079 14868 612324 VALIDATED 1601721 CCDC42 coiled-coil domain containing 42 INTERACTS WITH benzo[a]pyrene (ortholog) 17 17 17 p13.1 8664029 8678936 - 8633246 8648154 - 8729928 8746002 - 6480464 12477932;14702039;15489334;15489335;16189514;21139048;24657165 146849 J3KSK0;Q96M95 ABBA01054922;ABBA01054923;AC009451;AC011061;AI204372;AK057296;AMYH02032933;BC029224;CH471108;CV030241;NM_001158261;NM_144681;XM_006721459 AAH29224;BAB71414;EAW90043;EAW90044;EAW90045;NP_001151733;NP_653282;Q96M95;XP_006721522 Hs.121438 1760091 SHGC-106931 CCDC42A;FLJ32734 coiled-coil domain-containing protein 42A protein-coding ENSG00000161973 HGNC:26528 08731 VALIDATED 1351886 CCDC3 coiled-coil domain containing 3 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid 10 10 10 p13 12864409 12969462 - 12938625 13141762 - 12896625 13099773 - 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16344560;16381901;20526338;20881960 83643 Q9BQI4 ABBA01034634;ABBA01034635;AF190154;AK024578;AK095792;AK123393;AK124195;AK311458;AL136562;AL353586;AL355355;AL596124;AMYH02022161;AMYH02022162;AMYH02022163;AMYH02022164;AMYH02022165;AMYH02022166;AMYH02022167;BC051334;CH471072;DA531253;DN996248;NM_001282658;NM_031455 AAH51334;AAQ13698;BAG53129;CAB66497;CAL38166;EAW86311;NP_001269587;NP_113643;Q9BQI4 Hs.498720;Hs.738531 1655406;1774966;2121203;2129721;2150641;2158668;2164947;2181603 G17404;RH44318;RH44500;RH44748;RH70051;STS-W81358;WI-13753;WI-20155 DKFZp761F241;FLJ20925;RP11-347I22.1 OTTHUMP00000019122;coiled-coil domain-containing protein 3;fat/vessel-derived secretory protein;favine protein-coding ENSG00000151468 HGNC:23813 13008 VALIDATED 1602811 CCDC37 coiled-coil domain containing 37 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; 2,2',5,5'-tetrachlorobiphenyl (ortholog); titanium dioxide (ortholog) 3 3 3 q21.3 124538607 124580221 + 126113751 126155399 + 126394908 126436556 + 6480464;8554872 12477932;14702039;15489334;22011669;23455924;23569216 348807 E9PQV5;Q494V2 ABBA01016392;ABBA01016393;AC063919;AC073439;AK097402;AMYH02007584;AMYH02007585;BC101366;BC101367;BC101368;BC101369;CH471052;NM_182628;XM_005247431;XM_006713617;XM_006713618;XM_006713619;XM_006713620;XM_006713621;XM_006713622;XM_006713623;XR_241488 AAI01367;AAI01368;AAI01369;AAI01370;BAC05035;EAW79363;EAW79364;NP_872434;Q494V2;XP_005247488;XP_006713680;XP_006713681;XP_006713682;XP_006713683;XP_006713684;XP_006713685;XP_006713686 Hs.591305 1689518;1784810 RH92086;SHGC-155269 FLJ40083;MGC120558;MIA1 OTTHUMP00000222548;OTTHUMP00000222567;coiled-coil domain-containing protein 37 protein-coding ENSG00000163885 HGNC:26842 08805 VALIDATED 2311614 CCDC42B coiled-coil domain containing 42B ASSOCIATED WITH Melanoma (inferred) 12 12 12 q24.13 113214654 113224070 + 113587543 113597081 + 113149738 113159276 + 8554872 16541075;23569216 387885 A6NFT4;H0YHK5 ABBA01019947;ABBA01019948;ABBA01019949;AC089999;AMYH02027233;NM_001144872;XM_005253879 A6NFT4;NP_001138344;XP_005253936 Hs.486856 1736220 D12S1164E MIA2 OTTHUMP00000241813;coiled-coil domain-containing protein 42B protein-coding ENSG00000186710 HGNC:37100 PROVISIONAL 1603982 CCDC47 coiled-coil domain containing 47 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN osteoblast differentiation; FOUND IN membrane; INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; cobalt dichloride 17 17 17 q23.3 56210730 56239209 - 61822610 61851088 - 63745250 63773728 - 6480464 12477932;14702039;15489334;16169070;16210410;16303743;16344560;17353931;20562859;21139048;21145461;21343306;21890473;21903422;21906983;22190034;22412018;22990118;23000965;24250222;24816145;8125298 57003 J3KRX4;Q96A33 ABBA01035321;ABBA01035322;AC015651;AF113221;AF226054;AK027786;AK027844;AK075387;AK225813;AK314328;AMYH02033778;AMYH02033779;AX136149;AX878352;BC001300;BC008905;BC013600;CH471109;CS051185;DB222124;NM_020198;XM_005257527 AAF86954;AAG39292;AAH08905;AAH13600;ABM87572;BAB55367;BAB55407;BAC11587;BAG36975;CAC39717;CAE90113;CAI72088;EAW94279;EAW94280;EAW94281;EAW94282;NP_064583;Q96A33;XP_005257584 Hs.202011 1648264;1657050;1676672;1699358;1734476;1739153;2172238 D17S1437E;D17S1628;RH103266;RH45286;RH47195;RH80257;SHGC-11242 GK001;MSTP041 coiled-coil domain-containing protein 47 protein-coding ENSG00000108588 HGNC:24856 17041 VALIDATED 8157873 CCDC37-AS1 CCDC37 antisense RNA 1 (head to head) 3 3 3 124507524 124537310 - 126111875 126113641 - 126393032 126394798 - 12477932 100506907 ABBA01016393;AC063919;AMYH02007584;AW241753;BC033989;BI827527;BX109262;HG496029;HG496030;HY225164;NR_103787;NR_103788;NR_103789 Hs.369473 RP11-71E19.5 ncrna ENSG00000249833 HGNC:49641 VALIDATED 1606980 CCDC43 coiled-coil domain containing 43 INTERACTS WITH methyl methanesulfonate; valproic acid; 17alpha-ethynylestradiol (ortholog) 17 17 17 q21.31 39465309 39477668 - 42754805 42767355 - 44677437 44689797 - 6480464 12477932;14702039;17207965;21044950;21139048;21890473;22944692;23000965;23443559;24250222;24816145 124808 K7ER24;Q86WV7;Q96MW1 ABBA01028356;AC091152;AI073854;AK056357;AK098464;AL833590;AMYH02033493;BC023298;BC047776;BG706097;BX648868;CH471178;NM_001099225;NM_144609 AAH47776;ADQ33069;BAB71162;EAW51588;EAW51589;NP_001092695;NP_653210;Q96MW1 Hs.579115 1673368 RH15900 FLJ31795 coiled-coil domain-containing protein 43 protein-coding ENSG00000180329 HGNC:26472 08107 VALIDATED 1606758 CCDC54 coiled-coil domain containing 54 3 3 3 q13.12 105492535 105493828 + 107096188 107097481 + 107377341 107378634 + 12477932;15257753;16138340 84692 Q8NEL0 ABBA01061712;AC063944;AF367469;AK058091;AMYH02007383;BC030780;CH471052;HC007188;NM_032600 AAH30780;AAK53405;ABM81755;ABM81756;ABM84911;BAB71661;CBH19399;EAW79746;NP_115989;Q8NEL0 Hs.164799 1720133;2219218 NYD-SP17__6095;RH123844 FLJ25362;NYD-SP17;SP17 OTTHUMP00000214257;coiled-coil domain-containing protein 54;sperm protein 17;testes development-related NYD-SP17;testis development protein NYD-SP17 protein-coding ENSG00000138483 HGNC:30703 14860 PROVISIONAL 1606297 CCDC53 coiled-coil domain containing 53 FOUND IN actin cytoskeleton; intracellular membrane-bounded organelle; WASH complex; INTERACTS WITH 2-methylcholine; aflatoxin B1; benzo[a]pyrene 12 12 12 q23.2 102070738 102119920 - 102406717 102455902 - 102012939 102062124 - 6480464 10810093;10931946;12477932;15489334;16169070;16189514;17207965;19060904;19922875;20498093;21988832;22082156;22939629;8125298 51019 F5GWI9;F5GXZ4;F5GXZ7;F5GZ97;F5H0A7;F5H2P1;H0YGN0;Q9Y3C0 ABBA01053232;AC079907;AF151874;AF155655;AI739611;AK223339;AK314970;AMYH02027077;AMYH02027078;BC010889;BX356987;CH471054;CR457171;DB452335;FJ695207;KF455703;NM_001301107;NM_016053;XM_005268939;XM_005268940 AAD34111;AAF67012;AAH10889;ADQ33161;BAD97059;BAG37471;CAG33452;EAW97687;NP_001288036;NP_057137;Q9Y3C0;XP_005268996;XP_005268997 Hs.405692 CGI-116 OTTHUMP00000238240;OTTHUMP00000238242;OTTHUMP00000238243;OTTHUMP00000238244;WASH complex subunit CCDC53;coiled-coil domain-containing protein 53 protein-coding ENSG00000120860 HGNC:24256 13031 VALIDATED 1602866 CCDC51 coiled-coil domain containing 51 FOUND IN mitochondrion; nucleus; INTERACTS WITH (S)-colchicine; adenine; benzo[a]pyrene 3 3 3 p21.31 48424351 48432300 - 48473580 48481529 - 48432170 48440119 - 6480464 12477932;14702039;15146197;15342556;17110338;17207965;18029348;18854154;20877624;21906983;21963094 79714 C9JPZ8;C9JSW8;Q96ER9 AA749172;ABBA01024651;AC104448;AC134772;AK022498;AL533758;AMYH02006717;AW957929;BC004341;BC011993;BG336520;BI755881;BM810621;BP307614;BQ050243;BQ427785;CH471055;CN259750;NM_001256964;NM_001256965;NM_001256966;NM_001256967;NM_001256968;NM_001256969;NM_024661 AAH11993;ADQ32699;BAB14060;EAW64867;EAW64868;EAW64869;EAW64870;EAW64871;EAW64872;NP_001243893;NP_001243894;NP_001243895;NP_001243896;NP_001243897;NP_001243898;NP_078937;Q96ER9 Hs.187657;Hs.740720 1687391;1688279;1778182 RH92047;RH98863;STS-AA116092 FLJ12436 OTTHUMP00000210092;OTTHUMP00000210093;coiled-coil domain-containing protein 51 protein-coding ENSG00000164051 HGNC:25714 08571 VALIDATED 2303339 CCDC58P1 coiled-coil domain containing 58 pseudogene 1 18 18 p11.22 10623613 10624306 - 10623616 10624309 - 645859 ABBA01001270;AMYH02034297;AP001180;NG_009486 pseudo HGNC:32457 INFERRED 1606954 CCDC50 coiled-coil domain containing 50 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] 3 3 3 q28 189475666 189545223 + 191046874 191116459 + 191329085 191398670 + 6480464;7240710;8699517;8554872 12477932;12483295;14527723;14702039;15314609;15489334;15951569;16169070;16803894;17081983;17207965;17503326;18029035;18029348;18781797;19059208;19285159;19641524;20301607;20654576;20972266;21139048;21890473;21906983;21963094;21987572;22053931;22331027;23000965;23562540;24130170;24654937;25015289 152137 Q8IVM0 ABBA01058317;AC068645;AC073365;AJ416916;AJ557013;AK055652;AK092045;AK093660;AL512753;AMYH02008417;AMYH02008418;BC065004;CH471052;NG_008994;NM_174908;NM_178335 AAH65004;ADQ32531;CAC95196;CAD89526;EAW78089;EAW78090;NP_777568;NP_848018;Q8IVM0 Hs.478682 1336678;1340974;1644251;1648202;1651554;1653845;1657789;1689276;1692126;2115204;2146899;2156520;2165459;2165461;5037552;7187068 A001T04;AL033702;Cda0ce01;D3S1314;D3S2418;D3S3321;D3S4224;D8S2279;G19613;RH45920;RH92964;SHGC-32957;SHGC-77656;SHGC-77660;STS-N26778 C3orf6;DFNA44;YMER OTTHUMP00000209328;OTTHUMP00000209329;coiled-coil domain-containing protein 50 APPROVED protein-coding ENSG00000152492 HGNC:18111 06463 607453;611051 REVIEWED 7206859 CCDC58P2 coiled-coil domain containing 58 pseudogene 2 10 10 q11.23 52722504 52723190 - 50962744 50963430 - 100287708 ABBA01052493;AL731537;AMYH02023059;NG_029973 pseudo HGNC:45025 VALIDATED 1604240 CCDC58 coiled-coil domain containing 58 FOUND IN mitochondrion (inferred); INTERACTS WITH 2-methylcholine; coumestrol; formaldehyde 3 3 3 q21.1 120488064 120511702 - 122078436 122102074 - 122359589 122383227 - 6480464 12477932;15489334;19322201;20558539;20705733;20877624;21139048;21890473;21906983;23000965;24816145 131076 C9JBU9;C9JQ41;H7C525;Q4VC31 ABBA01016470;AC083798;AMYH02007537;BC054051;BC062725;BC109378;CH471052;NM_001017928;XM_005247108 AAH62725;AAI09379;EAW79487;EAW79488;NP_001017928;Q4VC31;XP_005247165 Hs.220594 FLJ33273 OTTHUMP00000215572;OTTHUMP00000215574;OTTHUMP00000215575;coiled-coil domain-containing protein 58 protein-coding ENSG00000160124 HGNC:31136 18548 VALIDATED 1605992 CCDC40 coiled-coil domain containing 40 This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 17 17 17 q25.3 74636488 74703213 + 78010431 78074412 + 80036632 80100613 + 6480464;8699517;7240710;8554872 10997877;12477932;14702039;16344560;20301301;20714864;21131974;21832049;22693285;23255504;23382691 55036 I3L292;I3L2X6;I3L3G6;I3L477;J3QSY2;Q4G0X9 AB046860;ABBA01015411;ABBA01015412;ABBA01015413;ABBA01015414;AC087741;AC116025;AI393590;AK000760;AK056583;AK130684;AL713758;AMYH02034096;AMYH02034097;AMYH02034098;AMYH02034099;AW300891;AX405988;BC035251;BC058288;BQ009577;CH471099;DA842356;DB230102;DB236682;NG_029761;NM_001243342;NM_017950;XM_005257491;XM_005257492 AAH35251;AAH58288;BAA91365;BAB13466;CAD35095;EAW89578;EAW89579;NP_001230271;NP_060420;Q4G0X9;XP_005257548;XP_005257549 Hs.202542 1675606;1682884;1693794;5022651 D11S2921;RH92754;RH98689;SHGC-58932 CILD15;FAP172;FLJ20753;FLJ32021;KIAA1640 OTTHUMP00000163559;coiled-coil domain-containing protein 40 APPROVED protein-coding ENSG00000141519 HGNC:26090 613799;613808 REVIEWED 1605253 CCDC57 coiled-coil domain containing 57 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3-methylcholanthrene; diazinon; ethyl methanesulfonate 17 17 17 q25.3 76681026 76765150 - 80059333 80170705 - 82101470 82212813 - 6480464;8554872 10737800;12477932;14702039;15851553;19913121;20379614;20628086;20682791;23718855;24722188;25036637;8619474;9110174 284001 E9PDF5;H7BYI8;J3KRQ8;J3KSU5;J3QQX7;K7N7D6;Q2TAC2 ABBA01019663;ABBA01019664;ABBA01019665;ABBA01019666;ABBA01019667;ABBA01019668;ABBA01019669;ABBA01019670;AC129510;AC132872;AC135056;AF007146;AK074059;AK074334;AK125941;AL137530;AMYH02034149;AMYH02034150;AMYH02034151;BC040264;BC110997;BE146089;CK431023;NM_198082;XM_005256345;XM_006722279 AAH40264;AAI10998;ACE86764;ACE87450;BAB84885;BAB85054;CAB70794;NP_932348;Q2TAC2;XP_005256402;XP_006722342 Hs.631724 1731044;1758059;1758425;1783518;5015619;5022588 D10S273;D11S3114;D5S1597E;SHGC-147232;SHGC-148294;SHGC-149799 FLJ00130;FLJ23754;FLJ43953;MGC102869 OTTHUMP00000179168;OTTHUMP00000184904;coiled-coil domain-containing protein 57 protein-coding ENSG00000176155 HGNC:27564 08041;14150 VALIDATED 1606017 CCDC59 coiled-coil domain containing 59 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsane; arsenic atom; cobalt dichloride 12 12 12 q21.31 82413647 82420144 - 82746083 82752584 - 82352304 82358805 - 6480464 11042152;11152647;12477932;12882447;14702039;16341674;16344560;16630564;17207965;17353931;21832049;23455922;24778252;24816145;8125298 29080 F8VNY5;Q9P031 ABBA01053471;AC083811;AF161477;AF213377;AK001156;AK225139;AL832749;AMYH02026848;BC020647;BG538660;BM846580;CH471054;DA666239;NM_014167;NR_033192 AAF29092;AAG43569;AAH20647;ADQ32217;BAA91524;EAW97379;EAW97380;NP_054886;Q9P031 Hs.582627 1654268;1685736;1723861;2109409;2119164 HSPC128_9574;RH118666;RH98258;SHGC-56799;STS-T48329 BR22;DKFZp686K1021;FLJ10294;HSPC128;TAP26 OTTHUMP00000243350;TTF-1-associated protein 26;TTF-1-associated protein BR2;coiled-coil domain-containing protein 59;thyroid transcription factor 1-associated protein 26 protein-coding ENSG00000133773 HGNC:25005 13696 VALIDATED 1602176 CCDC60 coiled-coil domain containing 60 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH atrazine; C60 fullerene (ortholog); cadmium dichloride (ortholog) 12 12 12 q24.23 119405646 119611925 + 119772517 119978852 + 119334712 119541047 + 6480464;8554872 12477932;15489334;16344560;17903295;18332876;21832049;8889548 160777 F5H2N8;F5H5H4;Q8IWA6 ABBA01020071;ABBA01020072;ABBA01020073;AC002070;AC084881;AK310830;AMYH02027340;AMYH02027341;AMYH02027342;AMYH02027343;AMYH02027344;AMYH02027345;BC040553;BM724243;CH471054;DB204596;NM_178499;XM_005253854;XM_006719265;XM_006719266;XM_006719267 AAH40553;ADZ15590;EAW98147;EAW98148;EAW98149;EAW98150;NP_848594;Q8IWA6;XP_005253911;XP_006719328;XP_006719329;XP_006719330 Hs.98188 1689566;1746769;1760359;1763673;1792142;2127421 G19120;G64758;PMC137543P4;RH92177;SHGC-141975;SHGC-147355 MGC39827 OTTHUMP00000239787;coiled-coil domain-containing protein 60 protein-coding ENSG00000183273 HGNC:28610 11347 VALIDATED 7206871 CCDC58P3 coiled-coil domain containing 58 pseudogene 3 18 18 p11.21 12211372 12212006 + 12211373 12212007 + 732448 ABBA01074011;AMYH02034325;AP005264;NG_030064 pseudo HGNC:45026 INFERRED 7206881 CCDC58P5 coiled-coil domain containing 58 pseudogene 5 11 11 11 70868436 70869179 - 73561510 73562252 - 73850465 73851207 - 100420588 ABBA01017504;AMYH02025097;AP002770;NG_024383 pseudo HGNC:45028 INFERRED 1603186 CCDC64 coiled-coil domain containing 64 ENCODES a protein that exhibits dynactin binding (ortholog); Rab GTPase binding (ortholog); INVOLVED IN Golgi to secretory granule transport (ortholog); neuron projection development (ortholog); FOUND IN centrosome (ortholog); INTERACTS WITH 17beta-estradiol; calcitriol; elemental selenium 12 12 12 q24.23 120060761 120165412 + 120427648 120532299 + 119989844 120094495 + 6480464 19734545;20379614;21555518 92558 B4DNE7;B4DWL0;H0YHP2;H0YHW1;H0YIC1;Q6ZP65 ABBA01020092;ABBA01020093;ABBA01020094;AC004812;AC004815;AK129960;AK297888;AK301580;AMYH02027359;AMYH02027360;AMYH02027361;AMYH02027362;AMYH02027363;CH471054;HI574098;NM_207311;U88834;XM_005253991;XM_006719694;XM_006719695;XM_006719696;XM_006719697;XR_429121 AAC83181;BAC85259;BAG60209;BAG63072;CBX47538;EAW98159;EAW98160;EAW98161;EAW98162;NP_997194;Q6ZP65;XP_005254048;XP_006719757;XP_006719758;XP_006719759;XP_006719760 Hs.369763 1677987;2139597;2157833 D12S1222E;G15657;RH78107 BICDR-1;FLJ26450;H_267D11.1 BICD-related protein 1;OTTHUMP00000240729;WUGSC:H_267D11.1;bicaudal D-related protein 1;coiled-coil domain-containing protein 64A protein-coding ENSG00000135127 HGNC:28095 14292 VALIDATED 1604733 CCDC63 coiled-coil domain containing 63 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; benzo[a]pyrene; pirinixic acid 12 12 12 q24.11 110911504 110972027 + 111284757 111345339 + 110846960 110907535 + 6480464;8554872 12477932;14702039;16344560;21270382;21372407;23364009 160762 G3V217;Q8NA47 ABBA01005123;ABBA01005124;ABBA01005125;ABBA01019875;ABBA01019876;AC002351;AC002375;AK093162;AK302207;AK310294;AMYH02027195;AMYH02027196;BC044815;BC064580;BC073147;CH471054;DB036197;HC006984;NM_001286243;NM_001286244;NM_152591;XM_006719262;XM_006719263;XM_006719264 AAH44815;AAH64580;AAH73147;BAC04081;BAG63565;CBH19297;EAW97941;EAW97942;NP_001273172;NP_001273173;NP_689804;Q8NA47;XP_006719325;XP_006719326;XP_006719327 Hs.437141 FLJ35843;ODA5 OTTHUMP00000241468;OTTHUMP00000241469;OTTHUMP00000241470;coiled-coil domain-containing protein 63;outer row dynein assembly 5 homolog protein-coding ENSG00000173093 HGNC:26669 08765 VALIDATED 1344180 CCDC6 coiled-coil domain containing 6 This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010] 10 10 10 q21 54814284 54932343 - 61548505 61666414 - 59788747 59906656 - 1580863;6480464;6907045;7240710;8699517 12477932;14702039;14712216;15144186;15302935;16344560;16385451;1678508;16964243;17081983;17353931;17420723;18029348;18226854;18474871;18715871;19156129;19322201;19487296;19615732;19730683;20379614;20498639;21139048;21890473;21906983;22113938;22327623;22363533;22399611;22655027;22863883;23000965;23108047;23145146;23154560;2334411;23443559;23578175;24059746;2406025;24255178;24816145;2902563;3600795;6745938;775355;7753554;8058316;8889548;8889549 8030 Q05CP8;Q16204 AA112388;ABBA01019456;AC023904;AC060231;AK024913;AK055515;AK056848;AK292593;AMYH02023171;AMYH02023172;AMYH02023173;BC022284;BC036757;BC064391;BM672399;CH471083;DA189501;DA923950;NG_027819;NM_005436;S72869 AAC60637;AAH22284;AAH36757;AAH64391;BAF85282;EAW54196;EAW54197;NP_005427;Q16204 Hs.591360 1688372;1710018;1716391;1735994;2110205;2218346;5037441 CCDC6_4525;D10S1283E;D10S170E;RH121376;RH64866;SHGC-82279;stb3m2.p1b D10S170;FLJ32286;H4;PTC;TPC;TST1 OTTHUMP00000019644;coiled-coil domain-containing protein 6;papillary thyroid carcinoma-encoded protein APPROVED protein-coding ENSG00000108091 HGNC:18782 09064 188550;601985 REVIEWED 1626601 CCDC64B coiled-coil domain containing 64B ENCODES a protein that exhibits Rab GTPase binding (inferred); INTERACTS WITH melphalan; pirinixic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p13.3 3283423 3291087 - 3077683 3086950 - 3027682 3036928 - 6480464 12477932;16196087 146439 A1A5D9 ABBA01026726;AC108134;AK307181;AL833717;AL833749;AMYH02031280;BC015446;BC128602;BG142147;CH471112;NM_001103175;XM_005255135;XM_006720850 A1A5D9;AAI28603;CAH56245;EAW85420;NP_001096645;XP_005255192;XP_006720913 Hs.513285 BICDR-2;MGC158069 BICD-related protein 2;bicaudal D-related protein 2;coiled-coil domain-containing protein 64B protein-coding ENSG00000162069 HGNC:33584 VALIDATED 2290511 CCDC61 coiled-coil domain containing 61 FOUND IN centrosome; INTERACTS WITH lead(0); lead(2+); pirinixic acid 19 19 19 q13.32 43303349 43326887 + 46498719 46521874 + 45995461 46018616 + 6480464 15057824;17081983;19913121;20628086;8889548 729440 M0QY15;M0QYL5;Q9Y6R9 ABBA01040959;AC007785;AC011545;AMYH02036215;AW453013;BI819372;BQ184369;CA775840;CB852675;DR007040;GQ375050;NM_001267723;XM_005259191;XM_005259192 AAD38244;AAF98366;ACT79331;NP_001254652;Q9Y6R9;XP_005259248;XP_005259249 Hs.515479 1742029;1742045 GDB:189978;GDB:190005 coiled-coil domain-containing protein 61 protein-coding ENSG00000104983 HGNC:33629 VALIDATED 1605241 CCDC66 coiled-coil domain containing 66 INVOLVED IN post-embryonic retina morphogenesis in camera-type eye (inferred); retinal rod cell development (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; cyclosporin A; ethyl methanesulfonate 3 3 3 p14.3 56557122 56621599 + 56591184 56655864 + 56557156 56621836 + 6480464;8554872 12477932;14702039;16344560;17562024;20379614;21890473;22505724;23000965;8889548 285331 A2RUB6;C9JYB8;F2Z2K6;F8WB87;F8WCY0;F8WDJ0 AA887479;ABBA01024444;ABBA01024445;ABBA01024446;ABBA01024447;AC098478;AC099781;AK095688;AK096754;AK125303;AL832556;AL832692;AL833326;AMYH02006850;BC047509;BC132827;BG484326;BU674751;CF994722;CU456552;DA017177;NM_001012506;NM_001141947;NR_024460;XM_005265081;XM_005265082;XM_005265083;XM_005265084;XM_005265085;XM_005265087;XM_006713115 A2RUB6;AAH47509;AAI32828;BAC04607;BAG54180;NP_001012524;NP_001135419;XP_005265138;XP_005265139;XP_005265140;XP_005265141;XP_005265142;XP_005265144;XP_006713178 Hs.476399 2151630;5015619;5109527;5124341 D11S3114;D3S2752E;D3S2886E;RH94001 DKFZp686C0433 OTTHUMP00000208578;OTTHUMP00000208579;OTTHUMP00000208583;coiled-coil domain-containing protein 66 protein-coding ENSG00000180376 HGNC:27709 14569 VALIDATED 1346795 CCDC7 coiled-coil domain containing 7 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (+)-catechin 10 10 10 p11.22 32621488 32937125 + 32735057 33171805 + 32446082 32882864 + 8554872 11181995;12477932;14702039;15489334;16189514;16344560;16385451;18984674;19277478;20379614;21109960;22024937;22145905 79741 A2A3D6;Q96M83;Q9H943 AA401575;ABBA01033378;ABBA01033379;ABBA01033380;ABBA01033381;AK023093;AK057324;AK058148;AK097668;AK301824;AL354750;AL355540;AL356053;AL365203;AL391839;AL591850;AMYH02022585;AMYH02022586;BC022020;BC042672;BC125090;BC125091;BI462512;BX647771;CH471072;DB026046;EF656618;EF656619;EF656620;HY009015;NM_001026383;NM_024688;NM_145023;NR_109826;NR_109827;XM_005252593;XM_005252595;XM_006717504;XM_006717505;XM_006717506 AAH22020;AAH42672;AAI25091;AAI25092;ABR88143;ABR88144;ABR88145;BAB14400;BAB71426;BAB71686;BAC05140;BAG63270;CAC40698;CAI46051;EAW85962;EAW85963;EAW85964;EAW85965;EAW85966;NP_001021554;NP_078964;NP_659460;Q96M83;Q9H943;XP_005252650;XP_005252652;XP_006717567;XP_006717568;XP_006717569 Hs.585464 1669415;1700916;1724935 109YG3;RH104085;RH119234 BioT2-A;BioT2-B;BioT2-C;C10orf68;FLJ13031;MGC149767;RP11-479G22.1;dJ1104A8.1 OTTHUMP00000195173;OTTHUMP00000195174;OTTHUMP00000197723;coiled-coil domain-containing protein 7;uncharacterized protein C10orf68 APPROVED protein-coding ENSG00000150076;ENSG00000216937 HGNC:26533 10698 VALIDATED 1603292 CCDC62 coiled-coil domain containing 62 ENCODES a protein that exhibits estrogen receptor binding; ligand-dependent nuclear receptor transcription coactivator activity; INVOLVED IN cellular response to estradiol stimulus; positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; quercetin 12 12 12 q24.31 122851887 122906208 + 123259056 123311927 + 122774509 122827380 + 6480464;8554872 12477932;14702039;15489334;18029348;18563714;19126643;19165854;21292315;24312176 84660 F5H0F1;Q6P9F0 ABBA01060447;ABBA01060448;ABBA01060449;ABBA01060450;ABBA01060451;ABBA01060452;AC027290;AK097663;AK124633;AK292466;AMYH02027436;AMYH02027437;AMYH02027438;AMYH02027439;AMYH02027440;AW628007;AY009105;AY254201;BC060796;CD556476;CH471054;DB458565;NM_201435;NR_027918;XM_006719643;XM_006719644;XM_006719645;XM_006719646;XM_006719647 AAG49396;AAH60796;AAP13075;BAC85909;BAF85155;BAG53505;EAW98344;EAW98345;NP_958843;Q6P9F0;XP_006719706;XP_006719707;XP_006719708;XP_006719709;XP_006719710 Hs.592008 1684622;5015861;5022425;5037552;5109281;7185938 D10S16;D1S1425;D22S296;D8S2279;RH98639 CT109;ERAP75;FLJ25432;FLJ40344;TSP-NY;aaa OTTHUMP00000239373;OTTHUMP00000239374;OTTHUMP00000239611;aaa-protein;cancer/testis antigen 109;coiled-coil domain-containing protein 60;coiled-coil domain-containing protein 62;testis-specific protein TSP-NY protein-coding ENSG00000130783 HGNC:30723 15575 613481 VALIDATED 1601959 CCDC68 coiled-coil domain containing 68 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 18 18 18 q21 49286315 49344306 - 52568740 52626739 - 54901509 54959508 - 6480464;8554872 11149944;12477932;15142679;15489334;17207965;21441570;21926974;22939629;23453885 80323 K7EN04;Q9H2F9 ABBA01056105;ABBA01056106;ABBA01056107;AC098848;AF273051;AI823801;AK058097;AK313793;AMYH02034767;AMYH02034768;AMYH02034769;BC029508;CH471096;NM_001143829;NM_025214;XM_005266772;XM_006722552 AAG34911;AAH29508;ADQ31668;BAG36530;EAW63013;EAW63014;EAW63015;NP_001137301;NP_079490;Q9H2F9;XP_005266829;XP_006722615 Hs.120790 2126574;2177097 SHGC-58160;STS-H02496 FLJ25368;SE57-1 CTCL tumor antigen se57-1;CTCL-associated antigen se57-1;OTTHUMP00000163560;coiled-coil domain-containing protein 68;cutaneous T-cell lymphoma associated antigen;cutaneous T-cell lymphoma-associated antigen se57-1 protein-coding ENSG00000166510 HGNC:24350 18034 VALIDATED 1604557 CCDC65 coiled-coil domain containing 65 This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013] 12 12 12 q13.12 48092267 48109838 + 49297893 49325696 + 48904110 48921576 + 6480464;8699517;7240710;8554872 12477932;14702039;16344560;17089017;21700706;23991085;24094744;8889548 85478 B4DXQ7;F8VR42;F8W0R6;Q8IXS2 ABBA01031493;ABBA01031494;AC073610;AF382188;AK093051;AK098529;AK302082;AK314623;AMYH02026427;AMYH02026428;AMYH02026429;BC039317;CA314956;CH471111;DB026303;NG_033837;NM_001286957;NM_033124;XM_006719671 AAH39317;AAK60542;BAC04035;BAC05324;BAG37189;BAG63469;EAW58020;EAW58021;NP_001273886;NP_149115;Q8IXS2;XP_006719734 Hs.512805 1683876 RH98468 CILD27;FAP250;FLJ25663;FLJ35732;NYD-SP28 OTTHUMP00000243694;OTTHUMP00000243695;OTTHUMP00000243697;coiled-coil domain-containing protein 65;testis development protein NYD-SP28 APPROVED protein-coding ENSG00000139537 HGNC:29937 14867 611088;615504 REVIEWED 1606948 CCDC67 coiled-coil domain containing 67 INVOLVED IN de novo centriole assembly (ortholog); multi-ciliated epithelial cell differentiation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN deuterosome (ortholog); INTERACTS WITH arsenite(3-); 6-propyl-2-thiouracil (ortholog); chloroprene (ortholog) 11 11 11 q21 90361768 90463143 + 93063156 93171636 + 93329990 93438470 + 6480464;8554872 12477932;16189514;22424883;22610074;23251661;24240477;24722188 159989 E9PIY2;E9PJR5;E9PLL9;E9PLX9;E9PMP4;E9PPB2;Q05D60 ABBA01040045;ABBA01040046;ABBA01040047;AK058122;AK127973;AMYH02025355;AMYH02025356;AMYH02025357;AMYH02025358;AMYH02025359;AMYH02025360;AMYH02025361;AP003969;AP004242;BC017929;BC031247;BC050325;CH471065;DB449834;NM_181645;XM_005273802 AAH17929;AAH31247;BAB71673;BAC87213;EAW66898;EAW66899;EAW66900;NP_857596;Q05D60;XP_005273859 Hs.436625 2178962 D11S1160 FLJ25393 OTTHUMP00000235944;OTTHUMP00000235945;OTTHUMP00000235946;OTTHUMP00000235947;coiled-coil domain-containing protein 67;deuterosome protein 1 protein-coding ENSG00000165325 HGNC:26344 08689 VALIDATED 1601742 CCDC71 coiled-coil domain containing 71 INTERACTS WITH (-)-epigallocatechin 3-gallate; 3,3',5-triiodo-L-thyronine; potassium chromate 3 3 3 p21.31 49157127 49161007 - 49199968 49203785 - 49162535 49166352 - 6480464 12477932;14702039;15489334;16344560;17207965;17403666;21963094;22797925;24457600 64925 Q8IV32 ABBA01024608;AC135506;AK022862;AK023691;AK098658;AMYH02006744;BC035516;BC071960;CH471055;DA613715;NM_022903 AAH35516;AAH71960;ADQ31800;BAB14278;BAB14642;EAW64960;NP_075054;Q8IV32 Hs.211472 FLJ12800;FLJ13629 2600016J21Rik;OTTHUMP00000210680;coiled-coil domain-containing protein 71 protein-coding ENSG00000177352 HGNC:25760 08576 VALIDATED 1603195 CCDC70 coiled-coil domain containing 70 FOUND IN plasma membrane; INTERACTS WITH benzo[a]pyrene; ethanol; silicon dioxide 13 13 13 q14.3 33484752 33489009 + 52436117 52440372 + 51861981 51866236 + 6480464 11230166;11256614;12477932;14702039;15057823;15342556;15489334;17207965;8125298 83446 Q6NSX1 ABBA01051051;AK098719;AK225745;AL136887;AL162377;AMYH02028038;BC069691;BC069748;BC069770;BC069806;BP371671;CH471075;CS072272;NM_031290 AAH69691;AAH69748;AAH69770;AAH69806;ACE86850;ACE87537;ADQ32881;BAC05391;CAB66821;CAI93410;EAX08897;NP_112580;Q6NSX1 Hs.120573 5017753 CCDC70 DKFZp434K1172;FLJ25853 OTTHUMP00000018440;coiled-coil domain-containing protein 70 protein-coding ENSG00000123171 HGNC:25303 13158 PROVISIONAL 1605902 CCDC74B coiled-coil domain containing 74B INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; atrazine 2 2 2 q21.1 124177086 124177399 - 130896856 130902707 - 130139283 130145134 - 6480464 12477932;14702039;15489334;23455924 91409 B8ZZB0;C9JC78;E7ESC5;E9PG54;F8WB40;F8WCQ0;H7C1C8;Q96LY2 ABBA01017941;AC018804;AI300820;AK057609;AK297246;AK302804;AL133619;AMYH02004774;BC067771;CD359923;NM_001258307;NM_207310;XM_005263838;XM_005263839;XM_005263840;XM_005263842;XM_006712833;XM_006712834;XM_006712835;XM_006712836;XM_006712837 AAH67771;BAB71533;BAG59726;BAG64006;CAB63745;NP_001245236;NP_997193;Q96LY2;XP_005263895;XP_005263896;XP_005263897;XP_005263899;XP_006712896;XP_006712897;XP_006712898;XP_006712899;XP_006712900 Hs.29383 2147860 RH69556 DKFZp434E2321 OTTHUMP00000162397;OTTHUMP00000204217;OTTHUMP00000204285;coiled-coil domain-containing protein 74B protein-coding ENSG00000152076 HGNC:25267 08534 VALIDATED 6766706 CCDC74B-AS1 CCDC74B antisense RNA 1 (non-protein coding) 2147860;5037552 D8S2279;RH69556 miscrna VALIDATED 1353671 CCDC7 coiled-coil domain containing 7 10 10 p11.22 32499925 32628330 + 32735041 32863492 + 737633 12477932 14702039;15489334;16189514;16385451;19277478;20379614;21109960;22024937;22145905 221016 A6YT98;A6YT99;A6YTA0;Q5JTR9 ABBA01033381;AK057324;AK058148;AL354750;AL391839;AMYH02022585;AMYH02022586;BC022020;BC042672;BI462512;BX647771;CH471072;EF656618;EF656619;EF656620;NM_001026383;NM_145023 AAH22020;AAH42672;ABR88143;ABR88144;ABR88145;BAB71426;BAB71686;CAI46051;EAW85964;EAW85965;EAW85966;NP_001021554;NP_659460;Q96M83 Hs.585464 1647519;1679107;1680974;1682810;1700916;1709248 G23952;RH104085;RH40315;RH69539;RH99057;SHGC-85814 BioT2-A;BioT2-B;BioT2-C;DKFZp686N0559;FLJ32762;RP11-479G22.1 OTTHUMP00000019417;OTTHUMP00000019418;coiled-coil domain-containing protein 7 protein-coding ENSG00000216937 HGNC:26533 10812 VALIDATED 1601781 CCDC73 coiled-coil domain containing 73 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cocaine (ortholog) 11 11 11 p13 32770373 32962956 - 32623626 32816204 - 32602080 32794658 - 6480464;8554872 12477932;12601173;18519826;20379614 493860 A6H8Y7;H0YDV2;Q6ZRK6 AA521271;ABBA01060907;ABBA01060908;AC244259;AK128159;AK131470;AL035400;AL049714;AL078477;AL096793;AMYH02024559;AW088759;AY211922;BC062749;BC146800;BU569581;CH471064;KF455352;KF455361;NM_001008391 AAH62749;AAI46801;AAI67796;AAO65175;BAC87304;BAD18615;EAW68216;NP_001008392;Q6ZRK6 Hs.706808 1660145;1703220;1734020;1737795 D11S2162;D11S3395;D11S4680;SGC31799 NY-SAR-79 OTTHUMP00000232448;coiled-coil domain-containing protein 73;sarcoma antigen NY-SAR-79 protein-coding ENSG00000186714 HGNC:23261 17414 612328 VALIDATED 1602288 CCDC71L coiled-coil domain containing 71-like INTERACTS WITH arsenite(3-); cobalt dichloride; ethyl methanesulfonate 7 7 7 q22.3 101104196 101106638 - 106297211 106301634 - 106656765 106661188 - 6480464 12107410;12477932;12690205;14702039;21890473;21906983;22505724;8889549 168455 Q8N9Z2 AA191066;ABBA01057922;AC004917;AI674055;AK021498;AK093350;AK098422;AMYH02016498;BC013906;BC032243;CA397148;CH236947;CK904414;NM_175884 AAH13906;BAC04142;EAL24398;NP_787080;Q8N9Z2 Hs.29692;Hs.633903 1848110;2163057 RH48695;WI-17564 C7orf74;FLJ11436;FLJ25556;FLJ36031;MGC16181 OTTHUMP00000226016;coiled-coil domain-containing protein 71L;hypothetical protein LOC168455;uncharacterized protein C7orf74 APPROVED protein-coding ENSG00000253276 HGNC:26685 08202 VALIDATED 1601842 CCDC77 coiled-coil domain containing 77 ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 12 12 12 p13.33 2107358 2158930 + 498516 551811 + 389350 442642 + 6480464;8554872 12477932;14702039;15489334;16344560;19946888;21139048;21963094;22505724;23563609;24255178 84318 F5H0W5;F5H5Q8;Q9BR77 ABBA01048853;ABBA01048854;ABBA01048855;AC005844;AK027638;AK293165;AK308216;AK316029;AMYH02025851;BC006444;CH471116;CX784327;DA711064;DC331633;NM_001130146;NM_001130147;NM_001130148;NM_032358 AAH06444;BAB55255;BAG56709;BAH14400;EAW88967;EAW88968;EAW88969;NP_001123618;NP_001123619;NP_001123620;NP_115734;Q9BR77 Hs.631656 1668052;1693596;2167977 D12S1867;RH47557;SHGC-58503 MGC13183 OTTHUMP00000159504;OTTHUMP00000237747;OTTHUMP00000237749;OTTHUMP00000237750;coiled-coil domain-containing protein 77 protein-coding ENSG00000120647 HGNC:28203 17485 VALIDATED 1603313 CCDC69 coiled-coil domain containing 69 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; cyclosporin A 5 5 5 q33.1 146641931 146685003 - 150560613 150603654 - 151181052 151224093 - 6480464;8554872 12477932;14702039;20962590;21900206;23251661;23568457;8125298 26112 A6NI79;E5RK59;H0YB32;H0YBY5;Q7L2X4 ABBA01026265;AC008385;AC011342;AK023767;AK094658;AK225826;AK292841;AK298063;AL080169;AL713742;AMYH02012464;AY538626;BC013053;BC016647;BM927471;CH471062;NM_015621 A6NI79;AAH16647;AAS45488;BAB14672;BAF85530;BAG60356;CAB45757;EAW61682;EAW61683;NP_056436 Hs.655336 1773786;1780830;1849695;2135282;2179806;5014051 D5S2842;D8S2278;RH45592;SHGC-57158;WI-12039;bac52338S DKFZp434C171;FLJ13705 OTTHUMP00000160622;OTTHUMP00000224129;coiled-coil domain-containing protein 69 protein-coding ENSG00000198624 HGNC:24487 13152 VALIDATED 5489341 CCDC75P1 coiled-coil domain containing 75 pseudogene 1 3 3 3 p13 73165549 73166652 - 73231319 73232558 - 73182168 73183407 - 344709 ABBA01030963;AC138389;AMYH02007067;NG_022207 pseudo HGNC:42659 INFERRED 1605353 CCDC81 coiled-coil domain containing 81 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; quercetin; cyclosporin A (ortholog) 11 11 11 q14.2 83396384 83444761 + 86085778 86134151 + 86374736 86423109 + 6480464;8554872 12477932 60494 E9PMI9;Q6ZN84 ABBA01017322;AI073989;AK027167;AK131331;AK223168;AK298875;AMYH02025232;AP001148;BC126412;NM_001156474;NM_021827;XM_005274161;XM_005274162 AAI26413;BAB15681;BAD18491;BAD96888;BAG60992;NP_001149946;NP_068599;Q6ZN84;XP_005274218;XP_005274219 Hs.144913 1729794;2130612 D11S2619;D16S321 FLJ16339;FLJ23514 OTTHUMP00000235494;OTTHUMP00000235496;OTTHUMP00000235497;coiled-coil domain-containing protein 81 protein-coding ENSG00000149201 HGNC:26281 08032 VALIDATED 1602861 CCDC82 coiled-coil domain containing 82 INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 11 11 11 q21 93386131 93423283 - 96085929 96123083 - 96352765 96389919 - 6480464 10931946;11042152;12477932;14702039;15489334;16344560;17081983;17353931;23793441;8889548 79780 E9PMD6;F5H777;Q8N4S0 ABBA01040006;AF161533;AF245436;AK027171;AK056790;AK074306;AK313893;AK314669;AMYH02025392;AP000848;AP003781;BC018663;BC033726;BM678039;BU742709;CH471065;DA801410;NM_024725;XM_005274292;XM_005274293;XM_006718909;XM_006718910;XM_006718911;XM_006718912 AAF29020;AAG44484;AAH18663;AAH33726;ACE86639;ACE87321;ADZ15672;BAB15683;BAG36616;BAG37226;BAG51809;EAW66979;EAW66980;EAW66981;EAW66982;EAW66983;EAW66984;EAW66985;NP_079001;Q8N4S0;XP_005274349;XP_005274350;XP_006718972;XP_006718973;XP_006718974;XP_006718975 Hs.525088 2126034 STS-R68789 FLJ23518;HSPC048 OTTHUMP00000236426;OTTHUMP00000236427;coiled-coil domain-containing protein 82 protein-coding ENSG00000149231 HGNC:26282 08033 VALIDATED 1351060 CCDC8 coiled-coil domain containing 8 This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011] 19 19 19 q13.32 43718552 43721888 - 46913586 46916919 - 46410329 46413662 - 737633;6480464;8699517;8554872;7240710 12477932 11230166;11256614;15489334;19389623;20301654;21139048;21572988;21737058;22084066;22156540;23018678;23443559;23455922;23602568;24778252;24793695 83987 G8IFA7;Q9H0W5 ABBA01040975;AC024584;AI301367;AK297668;AL136609;AMYH02036222;BC015648;BC025243;BG717344;BX096201;CH471126;JN703457;NG_031956;NM_032040 AAH25243;ACE86552;AET25567;BAG60030;CAB66544;EAW57418;NP_114429;Q9H0W5 Hs.744359;Hs.97876 3M3;DKFZp564K0322;PPP1R20;p90 OTTHUMP00000221906;coiled-coil domain-containing protein 8;protein phosphatase 1, regulatory subunit 20 APPROVED protein-coding ENSG00000169515 HGNC:25367 13009 614145;614205 REVIEWED 1606128 CCDC83 coiled-coil domain containing 83 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH arsane; arsenic atom; pirinixic acid (ortholog) 11 11 11 q14.1-q14.2 82875432 82940333 + 85566144 85631064 + 85855086 85920021 + 6480464;8554872 12477932;14702039;17207965;17633455;22923163 220047 H0YDV3;Q8IWF9 AA991734;ABBA01017331;ABBA01017332;AK093405;AK124113;AK314036;AMYH02025221;AMYH02025222;AP000974;AP003128;AY251167;BC040280;CH471076;HC007154;HC044677;NM_001286159;NM_173556;XM_005273842;XM_006718468;XM_006718469 AAH40280;AAP20064;ADQ31764;BAC04154;BAC85776;BAG36746;CBH19382;CBH30668;EAW75114;EAW75115;NP_001273088;NP_775827;Q8IWF9;XP_005273899;XP_006718531;XP_006718532 Hs.567774 1338704;1697286 D11S1979;RH102140 CT148;FLJ42119;HSD9;MGC34732 OTTHUMP00000234627;OTTHUMP00000234628;coiled-coil domain-containing protein 83 protein-coding ENSG00000150676 HGNC:28535 14586 VALIDATED 1604765 CCDC74A coiled-coil domain containing 74A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH potassium dichromate (ortholog); titanium dioxide (ortholog) 2 2 2 q21.1 126010320 126016067 + 132285248 132291239 + 131527834 131533666 + 6480464;8554872 12477932;14702039;15489334;15489335;15815621;16344560;17207965;23455924 90557 C9IYK9;F1SW65;F1SW66;F5GZA4;F8WEI8;Q96AQ1 AB299086;AB299087;ABBA01028229;ABBA01028230;ABBA01028231;AC093838;AK097664;AK309113;AMYH02004810;BC016861;BC030744;BC063387;CS063590;CV023784;DA375407;NM_001258304;NM_001258305;NM_001258306;NM_138770;XM_005263835;XM_005263836;XM_005263837;XM_006712828;XM_006712829;XM_006712830;XM_006712831;XR_427120;XR_427121;XR_427122;XR_427123 AAH16861;AAH30744;AAH63387;AAY14809;ADQ31761;BAC05137;BAK08536;BAK08537;CAI84530;NP_001245233;NP_001245234;NP_001245235;NP_620125;Q96AQ1;XP_005263892;XP_005263893;XP_005263894;XP_006712891;XP_006712892;XP_006712893;XP_006712894 Hs.351461 2147860 RH69556 CCDC74AV2;CCDC74AV3;FLJ40345 OTTHUMP00000162445;OTTHUMP00000204205;coiled-coil domain-containing protein 74A protein-coding ENSG00000163040 HGNC:25197 14274 VALIDATED 1605833 CCDC79 coiled-coil domain containing 79 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); INVOLVED IN meiotic telomere clustering (ortholog); synapsis (ortholog); FOUND IN chromosome, telomeric region (ortholog); INTERACTS WITH aflatoxin B1 (ortholog); bisphenol A (ortholog) 16 16 16 q22.1 51297518 51343833 - 66788879 66835523 - 66754596 66801620 - 6480464 12477932;14702039 283847 J3KSG9;J3KT78;Q8NA31 ABBA01025415;ABBA01025416;ABBA01025417;AC044802;AK093213;AMYH02032214;AMYH02032215;AMYH02032216;BC126109;NM_001136505;XM_006721177;XR_429718 AAI26110;BAC04098;NP_001129977;Q8NA31;XP_006721240 Hs.376505 1664357;1701462 Cda01h11;RH104363 FLJ35894 coiled-coil domain-containing protein 79;telomere repeats-binding bouquet formation protein 1 protein-coding ENSG00000249961 HGNC:26675 08197 PROVISIONAL 1345830 CCDC78 coiled-coil domain containing 78 The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012] 16 16 16 p13.3 972747 976638 - 772582 776880 - 722582 726923 - 6480464;8699517;7240710;8554872 11157797;12477932;14702039;18029348;20237496;22818856;24075808 124093 A2IDD5;D3DU63;H3BLT8;I3L158 ABBA01030353;AE006464;AK057178;AK091831;AK127495;AK128538;AK128575;AK298111;AK303991;AMYH02031205;AY439221;BC027941;BC042110;CH471112;DC341680;NG_032932;NM_001031737;XM_005255102;XM_005255106;XM_006720838;XM_006720839;XM_006720840;XM_006720841;XM_006720842;XM_006720843;XM_006720844;XR_429634;XR_429635;Z98258 A2IDD5;AAH42110;AAK61249;AAR13900;BAC03757;BAC87006;BAC87488;BAG60396;BAG64908;EAW85734;EAW85735;EAW85736;EAW85737;EAW85738;EAW85739;EAW85740;EAW85741;EAW85742;EAW85743;EAW85744;EAW85745;NP_001026907;XP_005255159;XP_005255163;XP_006720901;XP_006720902;XP_006720903;XP_006720904;XP_006720905;XP_006720906;XP_006720907 Hs.381943 C16orf25;CNM4;FLJ34512;JFP10;LA16c-444G9.2;hsCCDC78 OTTHUMP00000149990;OTTHUMP00000237752;chromosome 16 open reading frame 25;coiled-coil domain-containing protein 78 APPROVED protein-coding ENSG00000162004 HGNC:14153 08174 614666;614807 VALIDATED 736330 CCDC80 coiled-coil domain containing 80 ENCODES a protein that exhibits fibronectin binding (inferred); heparin binding (inferred); INVOLVED IN extracellular matrix organization (inferred); positive regulation of cell-substrate adhesion (inferred); FOUND IN basement membrane (inferred); interstitial matrix (inferred); INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid 3 3 3 q13.2 110732063 110768628 - 112323407 112359977 - 112604386 112641143 - 6480464 11812002;12477932;14702039;15146197;15325258;15489334;15563452;15998583;16341674;16344560;18029348;18178152;209648;21145461;21871888;23042114;23666966;23831687;8889548 151887 C9J8I6;H7C5K4;Q76M96 AB052098;AB266387;ABBA01061660;AC048334;AF506819;AK075210;AK292881;AK304561;AL833034;AMYH02007442;AY333429;AY526612;AY548106;AY548107;AY726593;BC023639;BC042105;BC042128;BC073164;BC086876;BC110842;BC116178;BC116179;BM787873;BX647117;BX647817;CH471052;CN360806;DA573543;NM_199511;NM_199512;XM_005247135 AAH42105;AAH73164;AAH86876;AAI10843;AAI16179;AAM33633;AAQ96742;AAS66643;AAS66644;AAS92235;BAC11475;BAD05134;BAF48770;BAF85570;BAG65354;CAH56167;CAH56178;CAH56325;EAW79663;EAW79664;EAW79665;NP_955805;NP_955806;Q76M96;XP_005247192 Hs.477128 1687610;1698522;1777918;1854863;2130462;5017785;5111490 CCDC80;D3S3894;RH102812;RH80490;SHGC-77203;SHGC-77206;STS-N24008 DRO1;MGC131805;MGC134851;SSG1;URB OTTHUMP00000214595;OTTHUMP00000214596;OTTHUMP00000214599;coiled-coil domain-containing protein 80;down-regulated by oncogenes protein 1;nuclear envelope protein okuribin;okuribin;steroid sensitive gene 1;up-regulated in BRS-3 deficient mouse homolog protein-coding ENSG00000091986 HGNC:30649 10508 608298 VALIDATED 1602413 CCDC84 coiled-coil domain containing 84 This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 11 11 11 q23.3 116026304 116043591 + 118868843 118886455 + 118998133 119015793 + 6480464 12477932;15489334;8889548 338657 E9PJ16;E9PPT8;Q86UT8 AB094093;ABBA01039681;ABBA01039682;AMYH02025659;AP003392;AW014772;BC126469;BC126471;BC144208;BC144209;BC144210;BG251503;BU733365;CH471065;DB565963;HY073607;NM_198489;NR_104049;NR_104050;NR_104051;XM_005271541;XR_246425;XR_246426;XR_246429;XR_246430 AAI26470;AAI26472;ADR83140;BAC76047;EAW67422;EAW67423;EAW67424;NP_940891;Q86UT8;XP_005271598 Hs.534613 1697318;1701242;1738125 D11S3747;RH102156;RH104249 DLNB14 OTTHUMP00000232693;coiled-coil domain-containing protein 84 protein-coding ENSG00000186166 HGNC:30460 13234 REVIEWED 1605892 CCDC85A coiled-coil domain containing 85A ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH calcitriol; formaldehyde; testosterone 2 2 2 p16.1 56251690 56453674 + 56411258 56613309 + 56184123 56386174 + 6480464;8554872 11572484;12477932;20379614;21102462;21900206 114800 Q96PX6 AB067499;ABBA01075280;ABBA01075281;ABBA01075282;ABBA01075283;AC007743;AC007744;AMYH02003865;BC131557;CH471053;NM_001080433;XM_005264125 AAI31558;AAI56396;AAI57124;BAB67805;EAX00077;NP_001073902;Q96PX6;XP_005264182 Hs.117136 1675953;1741323;1784132;2175598 GDB:180455;RH94185;SHGC-154452;SHGC-36792 KIAA1912 OTTHUMP00000201047;OTTHUMP00000201056;coiled-coil domain-containing protein 85A protein-coding ENSG00000055813 HGNC:29400 PROVISIONAL 1604295 CCDC86 coiled-coil domain containing 86 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN viral process (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1 11 11 11 q12.2 57970276 57979408 + 60609429 60618561 + 60841956 60851088 + 6480464 12477932;15302935;15607035;16169070;16344560;16751776;17300783;18029348;19851296;19913121;20198315;20628086;21890473;22586326;23439384;23602568;23740775;24250222;24816145 79080 B4DY99;H0YG79;Q9H6F5 ABBA01021516;AI018490;AK025974;AK123775;AK302329;AMYH02024875;AP000777;BC001378;BE795888;CH471076;DA292314;DQ501251;DQ587658;NM_024098 AAH01378;ABF68612;ABM83529;ABM86770;BAB15304;BAC85689;BAG63661;EAW73901;NP_077003;Q9H6F5 Hs.4253 1680693;2144223;2151624 IB1021;RH11821;RH67900 FLJ22321;MGC2574 OTTHUMP00000236554;OTTHUMP00000236805;coiled-coil domain-containing protein 86;cyclon;cytokine-induced protein with coiled-coil domain protein-coding ENSG00000110104 HGNC:28359 08322 611293 VALIDATED 1344482 CCDC85C coiled-coil domain containing 85C INVOLVED IN cerebral cortex development (ortholog); FOUND IN apical junction complex (ortholog); INTERACTS WITH copper atom; copper(0); valproic acid 14 14 14 q32.31 80032485 80125607 - 99977603 100070727 - 99511266 99604390 - 6480464 11181995;12477932;12508121;14702039;15489334;16344560;20360068;24255178 317762 A6NKD9;G3V2D7;G3V4C8;G3V5D5;H0YJE0;H0YJY5 ABBA01048555;ABBA01048556;ABBA01048557;ABBA01048558;AK026211;AK093969;AK096927;AK123840;AL110504;AL160313;AMYH02029836;BC029998;BC031990;BC110042;NM_001144995 A6NKD9;BAB15395;BAC04260;NP_001138467 Hs.709288 1657376;1660974;1661577;1697236;1730323;1773588;1797354;1849208;2141700;2149968;2184709;5093876;7187556 A009Y14;AFMB048YF1;CCNK_1614.3;D14S90E;G32976;G35001;G35350;G35787;RH102112;RH1621;RH44755;RH69937 FLJ22558;MGC117455 OTTHUMP00000246255;OTTHUMP00000246257;OTTHUMP00000246259;coiled-coil domain-containing protein 85C protein-coding HGNC:35459 VALIDATED 1605406 CCDC85B coiled-coil domain containing 85B Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication in vitro. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 62981782 62983013 + 65657875 65659106 + 65890404 65891635 + 6480464 12477932;15489334;15605074;15644333;16189514;16713569;17014843;17207965;17873903;23128233;8810253;8848724;9115212 11007 Q15834 ABBA01024097;AI583181;AK312109;AMYH02024966;AP006287;BC008796;CH471076;NM_006848;U63825 AAB05928;AAH08796;ADQ32425;BAG35045;EAW74468;NP_006839;Q15834 Hs.66713 1668826;2158918 RH47013;STS-U63825 DIPA OTTHUMP00000234060;coiled-coil domain-containing protein 85B;delta-interacting protein A;hepatitis delta antigen interacting protein A;hepatitis delta antigen-interacting protein A APPROVED protein-coding ENSG00000175602 HGNC:24926 16101 605360 VALIDATED 1348427 CCDC9 coiled-coil domain containing 9 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; amiodarone 19 19 19 q13.32 44563607 44579090 + 47759731 47777329 + 47256474 47273835 + 737633;6480464 12477932 11230166;11256614;15302935;15489334;16341674;20360068;21044950;23084401;24816145 26093 B4DXW2;M0QYB4;M0QZR0;M0R2W0;Q9Y3X0 ABBA01041018;ABBA01041019;AC008532;AK302153;AL050284;AMYH02036256;BC002787;BC009743;BM737911;CH471126;CR977312;NM_015603;XM_006723133;XM_006723134;XM_006723135;XM_006723136 AAH02787;AAH09743;ADZ15464;BAG63524;CAB43385;EAW57468;NP_056418;Q9Y3X0;XP_006723196;XP_006723197;XP_006723198;XP_006723199 Hs.227782 2109115 CCDC9_9457 DKFZp586M1019 coiled-coil domain-containing protein 9 protein-coding ENSG00000105321 HGNC:24560 10813 VALIDATED 1347801 CCDC88A coiled-coil domain containing 88A This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 2 2 2 p16.1 55355473 55487467 - 55514978 55647057 - 55287842 55419921 - 6480464;8554872 10574462;12477932;14676191;14702039;15749703;15753085;15882442;16139227;16344560;16751776;17043677;18264090;18316593;18663145;19211784;20132219;20157114;20379614;20462955;20515748;20936779;20974669;21139048;21209316;21799016;21906983;21954290;21998595;22020337;22116776;22308453;22574214;22714912;22755556;22780975;22990118;23051738;23066027;23184937;23195430;23349634;23443559;23588413;23886629;24166409;24326843 55704 B3KW94;C9J225;H0Y470;H0Y7K3;H0Y7U8;H7C2C6;O14997;Q3V6T2 AB033038;AB125644;AB201172;ABBA01075266;ABBA01075267;AC012358;AC019198;AC092176;AF112218;AK001254;AK024717;AK025723;AK124603;AK124761;AK299823;AK307964;AL036590;AMYH02003849;AMYH02003850;AMYH02003851;AMYH02003852;AV728179;BC014905;BC015539;BC032683;BC035848;BC041160;BC045829;BC056885;BC060037;BC078168;BC092515;BC132736;BC142646;BC142700;BC144320;BU570532;BX537985;BX538154;BX647874;BX648138;CH471053;D64159;DA488073;NG_031944;NM_001135597;NM_001254943;NM_018084;XM_005264418;XM_005264421;XM_005264423;XM_005264426;XM_005264427 AAF17206;AAH41160;AAH60037;AAH78168;AAI32737;AAI44321;AAX82029;AAY14932;BAA21515;BAA86526;BAA91584;BAE44387;BAF44475;BAG54056;BAG61692;CAD97945;CAD98038;CAI46020;EAX00099;EAX00100;EAX00101;NP_001129069;NP_001241872;NP_060554;Q3V6T2;XP_005264475;XP_005264478;XP_005264480;XP_005264483;XP_005264484 Hs.292925 1665144;1665146;1668830;1670106;1673326;1676962;1682934;1690326;1717507;1778129;5016700;5020946;5022200;5022450;5037552;5037554;5126408;7186386 A006B27;D10S275;D2S1285;D2S137;D8S2279;D8S2282;G20678;L17971;L18426;RH122259;RH12571;RH69376;RH79802;RH79821;RH92651;RH93856;UniSTS:15027;WI-22280 APE;DKFZp686D0630;GIV;GRDN;HkRP1;KIAA1212 AKT-phosphorylation enhancer;Galpha-interacting vesicle-associated protein;G{alpha}-interacting vesicle-associated protein;Hook-related protein 1;OTTHUMP00000200778;OTTHUMP00000201690;akt phosphorylation enhancer;coiled-coil domain-containing protein 88A;g alpha-interacting vesicle-associated protein;girders of actin filament;girders of actin filaments;girdin APPROVED protein-coding ENSG00000115355 HGNC:25523 10051;11131 609736 REVIEWED 1602421 CCDC89 coiled-coil domain containing 89 FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH aflatoxin B1; 17alpha-ethynylestradiol (ortholog); chloroprene (ortholog) 11 11 11 q14.1 82704196 82706623 - 85394893 85397320 - 85683850 85686277 - 6480464 12477932;14702039;15188402;15489334;24250222 220388 Q8N998 ABBA01017336;AK095478;AMYH02025218;AP000642;BC044814;CH471076;NM_152723 AAH44814;BAC04556;EAW75106;NP_689936;Q8N998 Hs.376241 FLJ38159 OTTHUMP00000234605;bc8 orange-interacting protein;coiled-coil domain-containing protein 89 protein-coding HGNC:26762 08234 PROVISIONAL 1346283 CCDC90AP1 coiled-coil domain containing 90A pseudogene 1 17 17 17 p13.3 2046744 2047594 - 2030722 2031572 - 2127428 2128278 - 53383 ABBA01054693;AC090617;AMYH02032762;NG_026139;NG_033980 C17orf23 hypothetical protein LOC53383;uncharacterized protein LOC53383 APPROVED pseudo HGNC:1217 INFERRED 1605354 CCDC90B coiled-coil domain containing 90B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion; INTERACTS WITH (-)-demecolcine; aflatoxin B1; all-trans-retinoic acid 11 11 11 q14.1 80282156 80307022 - 82972498 82997445 - 83259093 83286407 - 6480464;8554872 11230166;11256614;12477932;14702039;15146197;16169070;18029348;20877624;21900206;8125298 60492 E9PKQ5;E9PMQ7;E9PNI8;E9PPJ7;E9PRC2;E9PSG6;H0YD95;H0YF06;J3KN19;Q9GZT6 ABBA01017362;AF182412;AF182424;AF271782;AK026338;AK055972;AK225726;AK304769;AK315787;AL136791;AMYH02025191;AP000873;AV756714;BC014573;BC017771;BC020783;BC032701;BC048795;BC067764;BC107755;BF131344;BG700162;CH471076;CN309108;KF510385;NM_001286116;NM_001286117;NM_001286118;NM_001286119;NM_001286120;NM_021825;XM_005274152;XM_005274154;XM_005274156;XM_005274159;XM_006718654 AAG14948;AAG14960;AAG44793;AAH14573;AAH20783;AAI07756;BAG38133;BAG51599;BAG65524;CAB66725;EAW75088;EAW75089;EAW75090;EAW75091;NP_001273045;NP_001273046;NP_001273047;NP_001273048;NP_001273049;NP_068597;Q9GZT6;XP_005274209;XP_005274211;XP_005274213;XP_005274216;XP_006718717 Hs.368866 1645423;1772126;1846803;2129424;2135953;2152060 A004O44;A006K03;D11S2267E;SHGC-50338;WI-13569;WI-13893 MDS011;MDS025;MGC104239 OTTHUMP00000235040;OTTHUMP00000235041;OTTHUMP00000235042;OTTHUMP00000235044;OTTHUMP00000235081;OTTHUMP00000235083;coiled-coil domain-containing protein 90B, mitochondrial protein-coding ENSG00000137500 HGNC:28108 14378 VALIDATED 1605359 CCDC91 coiled-coil domain containing 91 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN protein transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi apparatus; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 12 12 12 p11.22 33556106 33849062 + 28343360 28703099 + 28190427 28550166 + 6480464;8554872 12477932;12808037;12858163;14702039;15489334;16189514;17596511;18029348;20379614;20808825;20881960;21139048;22990118;23251661;23563607;24816145;8889548 55297 F5GWB1;F5GWR1;F5GXK6;F5GZH9;F5H3Z8;F5H4N8;H0YFR6;H0YGB4;H0YGN9;H0YH48;H0YH50;Q05D28;Q7Z6B0 ABBA01068060;ABBA01068061;AC022079;AC024939;AC046131;AC084754;AK001950;AK093152;AK309181;AL570537;AMYH02026251;AMYH02026252;AMYH02026253;AMYH02026254;AMYH02026255;AMYH02026256;AMYH02026257;AY251168;AY289196;BC018679;BC028682;BU739164;CH471094;CR457277;CR749586;NM_018318;XM_005253413;XM_005253414;XM_005253415;XM_005253416;XM_006719103;XM_006719104;XM_006719105 AAH18679;AAH28682;AAP20065;AAP42284;BAA91995;BAG52665;CAG33558;CAH18385;EAW96579;EAW96580;EAW96581;EAW96582;NP_060788;Q7Z6B0;XP_005253470;XP_005253471;XP_005253472;XP_005253473;XP_006719166;XP_006719167;XP_006719168 Hs.653125 1697544;1725907;1725943;1726009;1726075;2146799 G62260;G62295;G62326;G62361;RH102279;SGC44230 DKFZP779L1558;FLJ11088;HSD8;p56 GGA binding partner;GGA-binding partner;OTTHUMP00000240176;OTTHUMP00000240177;OTTHUMP00000240178;OTTHUMP00000240181;coiled-coil domain-containing protein 91;p56 accessory protein protein-coding ENSG00000123106 HGNC:24855 16905 VALIDATED 1603997 CCDC94 coiled-coil domain containing 94 INTERACTS WITH atrazine; bis(2-chloroethyl) sulfide; copper(2+) sulfate 19 19 19 p13.3 4186494 4208470 + 4247111 4269085 + 4247114 4269088 + 6480464 12477932;14702039;15489334;17081983;21139048 55702 M0R2S3;Q9BW85 ABBA01056081;AC005578;AC008616;AF091080;AK001236;AK023988;AMYH02035280;AMYH02035281;AMYH02035282;BC000561;BC019096;CH471139;NM_018074 AAC33489;AAC72949;AAH00561;AAH19096;BAA91572;BAB14757;EAW69242;EAW69243;NP_060544;Q9BW85 Hs.21811 1697712;1734680 D19S685E;RH102374 FLJ10374 coiled-coil domain-containing protein 94 protein-coding ENSG00000105248 HGNC:25518 08546 PROVISIONAL 1604894 CCDC88C coiled-coil domain containing 88C This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013] 14 14 14 q32.11 71786122 71932885 - 91737667 91884188 - 91271323 91417844 - 6480464;7240710;8554872;8699517 10819331;12477932;14702039;14750955;16751776;17185515;21031079;21832049;21900206;22558309;23042809;23184937;23535729;23824909;24255178;24772479;24816145;25015289;25062847;8619474;9110174 440193 B4DZB8;G3V3S0;H0YJX5;Q0P665;Q9P219 ABBA01030480;ABBA01030481;AF070587;AK022593;AK302839;AL133153;AL135818;AL137353;AL833046;AMYH02029739;AMYH02029740;AMYH02029741;AMYH02029742;AMYH02029743;BC028565;BC032316;BC035914;BX248302;BX283171;CH471061;CR747498;CR998718;DC402942;DR006516;EG328265;KF455983;NG_033118;NM_001080414;XM_005267691;XM_005267692;XR_429316 AAH28565;AAH32316;AAH35914;ADZ15600;BAB14119;BAG64030;CAD62629;CAH10602;EAW81451;NP_001073883;Q9P219;XP_005267748;XP_005267749 Hs.525536 1656232;1731615;1736396;1777937;2139690;2148386;2150755;2154353;2169864 D14S169;D14S655E;FB17H5;G35614;G35778;G36140;SHGC-32353;SHGC-63659;WI-21906 FLJ00354;HYC;HkRP2;KIAA1509;SCA40 DAPLE;Dvl-associating protein with a high frequency of leucine residues;OTTHUMP00000245079;coiled-coil domain-containing protein 88C;hDaple;hook-related protein 2;spinocerebellar ataxia 40 protein-coding ENSG00000015133 HGNC:19967 236600;611204;616053 REVIEWED 1603873 CCDC96 coiled-coil domain containing 96 INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; amiodarone 4 4 4 p16.1 6945993 6948145 - 7042576 7044728 - 7040849 7043001 - 6480464 12477932;14702039;15489334;16344560;24250222 257236 Q2M329 ABBA01012736;AC097382;AK075056;AMYH02008678;BC105055;BC112274;BQ009685;CH471131;CQ783834;DB045256;NM_153376 AAI05056;AAI12275;ADR83062;BAC11373;CAF86884;EAW82373;NP_699207;Q2M329 Hs.656757 2187599 RH36525 FLJ90575;MGC138479 OTTHUMP00000155166;coiled-coil domain-containing protein 96 protein-coding ENSG00000173013 HGNC:26900 08297 VALIDATED 1602481 CCDC87 coiled-coil domain containing 87 ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN microtubule cytoskeleton organization (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); furan (ortholog) 11 11 q13.2 66357640 66360554 - 66590169 66593083 - 6480464;8554872 12477932;14702039;16189514;17643375;21926972;23443559;24250222 55231 Q9NVE4 ABBA01024072;AI391530;AK001648;AMYH02024979;AP001157;BC034469;NG_008733;NM_018219 AAH34469;BAA91808;NP_060689;Q9NVE4 Hs.121072 FLJ10786 OTTHUMP00000235517;coiled-coil domain-containing protein 87 protein-coding ENSG00000182791 HGNC:25579 07699 VALIDATED 7777261 CCER2 coiled-coil glutamate-rich protein 2 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular region (inferred) 19 19 19 q13.2 36202057 36205231 - 39399620 39402798 - 38908980 38912158 - 8554872 12805274;8889548 643669 I3L3R5;I3L3Z9 ABBA01040709;AC011455;AMYH02036083;AY270371;BM674447;BM717067;CB105023;EG328464;EG328465;NM_001243212;XM_006723326 I3L3R5;NP_001230141;XP_006723389 Hs.355357 coiled-coil domain-containing glutamate-rich protein 2;uncharacterized protein LOC643669 protein-coding ENSG00000262484 HGNC:44662 VALIDATED 1603867 CCDC88B coiled-coil domain containing 88B This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009] 11 11 11 q12.3 61433773 61451010 + 64107690 64125006 + 64340218 64357534 + 6480464;8554872 11230166;12477932;14667819;14702039;15882442;19946888;20936779;21289099;22837380;23128233 283234 A6NC98;B2RTU8;H7BY33 ABBA01003298;ABBA01003299;ABBA01003300;AK074126;AK090436;AK095289;AK126728;AL136799;AMYH02024934;AP003774;AY491401;BC030194;BC040232;BC140822;BC140824;BC141866;BC151218;BC151222;BE222756;NM_032251;XM_006718519;XM_006718520 A6NC98;AAH40232;AAI40823;AAI40825;AAI41867;AAR83719;BAB84952;BAC03417;CAB66733;NP_115627;XP_006718582;XP_006718583 Hs.98564 1769054;5109281;5119447 D1S1425;D20S984;G33078 BRLZ;CCDC88;DKFZp434G0920;FLJ00354;FLJ37970;HkRP3 78 kDa glucose-regulated protein [GRP78]-interacting protein induced by ER stress;GRP78-interacting protein induced by ER stress;OTTHUMP00000042630;brain leucine zipper domain-containing protein;brain leucine zipper protein;coiled-coil domain containing 88;coiled-coil domain-containing protein 88B;gipie;hook-related protein 3 APPROVED protein-coding ENSG00000168071 HGNC:26757 10986 611205 REVIEWED 1604596 CCDC92 coiled-coil domain containing 92 ASSOCIATED WITH Melanoma (inferred); FOUND IN centriole; INTERACTS WITH atrazine; benzo[a]pyrene; copper(2+) sulfate 12 12 12 q24.31 124020731 124056999 - 124420955 124457373 - 123936408 123972826 - 6480464;8554872 12477932;14702039;15489334;16169070;17207965;19322201;19936222;20686565;20936779;22863007;24250222;8125298 80212 B3KNQ0;F5GXK2;F5H285;F5H2Z7;F5H7P8;Q53HC0 AB015292;ABBA01060388;AC068790;AC079315;AK026124;AK054680;AK124358;AK125866;AK222661;AMYH02027463;AMYH02027464;BC017186;CH471054;NM_025140;XM_005253624;XM_005253625;XM_006719611 AAH17186;ADQ32283;BAB15366;BAB82436;BAD96381;BAG51412;BAG54259;EAW98438;EAW98439;EAW98440;NP_079416;Q53HC0;XP_005253681;XP_005253682;XP_006719674 Hs.713131 1657279;1660601;1665799;1697910;1772200;1782522;2106787;2106789 A004O46;D12S2066;GC32S03;GC32S043;RH102483;SHGC-104021;STS-Z41302;WI-12482 FLJ22471 OTTHUMP00000239286;OTTHUMP00000239293;OTTHUMP00000239295;coiled-coil domain-containing protein 92;limkain beta 2;limkain beta-2 protein-coding ENSG00000119242 HGNC:29563 16919 PROVISIONAL 1602452 CCDC97 coiled-coil domain containing 97 INTERACTS WITH cadmium atom; copper(2+) sulfate; methyl methanesulfonate 19 19 19 q13.2 38616246 38630939 + 41816094 41830788 + 41310189 41324883 + 6480464 12477932;14702039;16055720;19692168;20360068;20936779;23602568;24250222 90324 M0QXS4;M0QZY6;Q96F63 ABBA01040803;AC011462;AK097586;AL833726;AMYH02036132;BC007575;BC011577;BC019597;CH471126;CS674264;CS805737;HC919734;HC919945;NM_052848;XM_005259377 AAH07575;AAH11577;CAH56251;CAP12292;CAP40173;CBN73464;CBN73469;EAW57030;EAW57031;NP_443080;Q96F63;XP_005259434 Hs.437497 1852267 WI-14864 FLJ40267;MGC20255 coiled-coil domain-containing protein 97 protein-coding ENSG00000142039 HGNC:28289 14467 PROVISIONAL 1606687 CCER1 coiled-coil glutamate-rich protein 1 INTERACTS WITH copper(2+) sulfate 12 12 12 q21.33 91017121 91020082 - 91345992 91348953 - 90952215 90955176 - 6480464 12477932;16189514;17967063 196477 H0YHB9;Q8TC90 ABBA01053409;AC078873;AMYH02026915;BC024183;BC026075;BC027600;BC034491;CH471054;HC006804;HC044817;NM_152638 AAH24183;AAH26075;AAH27600;AAH34491;CBH19208;CBH30738;EAW97443;NP_689851;Q8TC90 Hs.128574 1687427;1698356 RH102719;RH98621 C12orf12;MGC26598 OTTHUMP00000242884;coiled-coil domain-containing glutamate-rich protein 1;hypothetical protein LOC196477;uncharacterized protein C12orf12 APPROVED protein-coding ENSG00000197651 HGNC:28373 14505 PROVISIONAL 735565 CCKBR cholecystokinin B receptor This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has a high affinity for both sulfated and nonsulfated CCK analogs and is found principally in the central nervous system and the gastrointestinal tract. A misspliced transcript variant including an intron has been observed in cells from colorectal and pancreatic tumors. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6400020 6412407 + 6280841 6293363 + 6259611 6272127 + 1358454;1580863;2311323;1358452;2311333;2311332;4110816;4110823;4110829;4110821;4110822;1626108;6480464 12851875;1458479;15102523;15161757;15354400;15647484;15688412;15948246;16527403;8222074;8302799 10100325;10400698;10438490;10741470;10913157;11244486;11368834;11515749;11830556;11896205;11926817;12058027;12189558;12198366;12400008;12429993;12477932;12510010;12695525;12761477;12777967;1280419;12955087;14534299;14759564;15001623;15001692;15036586;15040018;15068617;15292208;15313848;15520004;15611055;15817487;15850403;15989082;16012719;16142371;16143134;16228228;16242076;16344560;16547500;16754659;16909104;16963136;16998832;17474147;17572695;17889508;17933865;17936921;17962809;18028338;18438722;18444993;18832011;18996102;19086053;19502590;19627395;19697327;19751565;19874574;19913121;20023595;20185366;20201926;20379614;20468064;20602615;20628086;20732371;20932834;21156802;21504585;21852362;22040601;22277584;22442157;22516348;22645275;23053898;23376640;23890582;23975374;24211650;24561123;24623766;7681836;7848914;7887934;8125298;8185170;8185642;8222757;8343165;8349705;8415658;8455720;8663021;8995203;9872672 887 E9PIC8;E9PJ49;E9PPL7;P32239 ABBA01028664;AC022762;AC068733;AF239668;AF441129;AK226020;AK292064;AK314266;AMYH02024265;AY029770;AY322551;BC000740;BT006789;CH471064;CX762706;D13305;D21219;DA297178;DQ335648;DQ335649;DQ335650;DQ335651;L04473;L07746;L08112;L10822;NG_030591;NM_176875;S70057;S76072;XM_005253210 AAA35657;AAA35660;AAA91831;AAB30766;AAB33740;AAC37528;AAF67174;AAH00740;AAK38351;AAN32829;AAP35435;AAP84364;ABC86718;ABC86719;ABC86720;ABC86721;ABM84663;ABM92194;BAA02564;BAA04759;BAF84753;EAW68734;EAW68735;NP_795344;P32239;XP_005253267 Hs.203 2179781 RH69002 CCK-B;CCK-BR;CCK2-R;CCK2R;GASR CCK-B receptor;CCK2 receptor;OTTHUMP00000164537;OTTHUMP00000229568;OTTHUMP00000229571;cholecystokinin-2 receptor;cholecystokinin-B receptor/gastrin receptor;gastrin receptor;gastrin/cholecystokinin type B receptor APPROVED protein-coding ENSG00000110148 HGNC:1571 00323 118445 REVIEWED 1343153 CCIN calicin The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 36102976 36104918 + 36165990 36171331 + 36169392 36171334 + 1580863;6480464;8554872 11090452;12477932;21832049;7641791 881 Q13939;Q8WWB2;Q8WX35 AA420997;ABBA01050434;AF333334;AK313763;AL158830;AMYH02019472;BC019251;CH471071;NM_005893;Z46967 AAH19251;AAK20829;ABM81752;ABM84906;ABM84908;ABW03306;BAG36501;CAA87088;EAW58313;EAW58314;NP_005884;Q13939 Hs.115460 2137098;2218348 CCIN_4526;RH71317 BTBD20;KBTBD14 OTTHUMP00000021373 APPROVED protein-coding ENSG00000185972 HGNC:1568 04907 603960 REVIEWED 1603642 CCDC93 coiled-coil domain containing 93 INTERACTS WITH all-trans-retinoic acid; bisphenol A; calcitriol 2 2 2 q14.1 112000384 112098933 - 118673054 118771739 - 117915478 118014163 - 6480464 11076863;12477932;14702039;15489334;15489336;15815621;16344560;16381901;17043677;21139048;21906983;22070227;22797925;24250222;24816145;8619474;9110174 54520 F8W9X7;H7C050;Q567U6 AB209993;ABBA01045944;ABBA01045945;AC009303;AC009404;AF070582;AK001858;AK025611;AK057926;AK124683;AK290722;AK309040;AL050001;AMYH02004634;AY726577;BC005078;BC012052;BC028609;BC080559;BC093018;BU621185;CH471103;DB084596;NM_019044;XM_006712597;XM_006712598;XM_006712599;XM_006712600 AAH28609;AAH93018;AAX88948;AAX88949;AAX93279;BAA91945;BAB15188;BAE06075;BAF83411;CAL38066;CAL38380;CAL38575;EAW95197;EAW95198;NP_061917;Q567U6;XP_006712660;XP_006712661;XP_006712662;XP_006712663 Hs.107845 1651386;1661116;1676924;1798342;1798378;1798560;1798802;1798882;1798942;1800812;1800936;1801036;1801090;1801544;1802924;1804358;1804794;1805802;1805962;1806366;1806424;1806646;1806836;1806896;1806898;1808536;1808672;1808978;1809094;1809334;1809644;1810202;1810364;1810500;1810866;1810938;1811086;1811552;1812044;1812114;1812656;1813026;1813892;1814220;1814712;1814714;1815558;1818684;1818950;1818952;1819268;1819338;1819742;1819940;1819942;1820424;1820564;1820862;1821082;1821218;1821346;1821970;1822042;1822044;1822186;1822320;1822614;1822920;1823144;1823196;1823608;1823770;1824200;1824510;1824822;1825152;1826342;1827250;1827502;1828908;1829714;1830082;1830142;1830494;1830756;1830956;1831004;1831654;1832178;1832962;1833386;1833696;1834572;1835154;1837576;1837774;1838018;1838650;1838764;1838896;1839744;1841348;1841826;1843412;1843842;1843934;1844244;1844772;1844816;1844972;1845456;1845868;1852888;1878532;1878534;1878536;1878538;1878540;1878542;1878544;1878546;1878548;1878550;1878552;1878554;1878556;1878558;1878560;1878562;1878564;1878566;1878568;1878570;1878572;1878574;1878576;1878578;1878580;1878582;1878584;1878586;1878588;1878590;1878592;1878594;1878596;1878598;1878600;1878602;1878604;1878606;1878608;1878610;1878612;1878614;1878616;1878618;1878620;1878622;1878624;1878626;1878628;1878630;1878632;1878634;1878636;1878638;1878640;1878642;1878644;1878646;1878648;1878650;1878652;1878654;1878656;1878658;1878660;1878662;1878664;1878666;1878668;1878670;1878672;1878674;1878676;1878678;1878680;1878682;1878684;1878686;1878688;1878690;1878692;1878694;1878696;1878698;1878700;1878702;1878704;1878706;1878708;1878710;1878712;1878714;1878716;1878718;1878720;1878722;1878724;1878726;1878728;1878730;1878732;1878734;1878736;1878738;1878740;1878742;1878744;1878746;1878748;1878750;1878752;1878754;1878756;1878758;1878760;1878762;1878764;1878766;1878768;1878770;1878772;1878774;1878776;1878778;1878780;1878782;1878784;1878786;1878788;1878790;1878792;1878794;1878796;1878798;1878800;1878802;1878804;1878806;1878808;1878810;1878812;1878814;1878816;1878818;1878820;1878822;1878824;1878826;1878828;1878830;1878832;1878834;1878836;1878838;1878840;1878842;1878844;1878846;1878848;1878850;1878852;1878854;1878856;1878858;1878860;1878862;1878864;1878866;1878868;1878870;1878872;1878874;1878876;1878878;1878880;1878882;1878884;1878886;1878888;1878890;1878892;1878894;1878896;1878898;1878900;1878902;1878904;1878906;1878908;1878910;1878912;1878914;1878916;1878918;1878920;1878922;1878924;1878926;1878928;1878930;1878932;1878934;1878936;1878938;1878940;1878942;1878944;1878946;1878948;1878950;1878952;1878954;1878956;1878958;1878960;1878962;1878964;1878966;1878968;1878970;1878972;1878974;1878976;1878978;1878980;1878982;1878984;1878986;1878988;1878990;1878992;1878994;1878996;1878998;1879000;1879002;1879004;1879006;1879008;1879010;1879012;1879014;1879016;1879018;1879020;1879022;1879024;1879026;1879028;1879030;1879032;1879034;1879036;1879038;1879040;1879042;1879044;1879046;1879048;1879050;1879052;1879054;1879056;1879058;1879060;1879062;1879064;1879066;1879068;1879070;1879072;1879074;1879076;1879078;1879080;1879082;1879084;1879086;1879088;1879090;1879092;1879094;1879096;1879098;1879100;1879102;1879104;1879106;1879108;1879110;1879112;1879114;1879116;1879118;1879120;1879122;1879124;1879126;1879128;1879130;1879132;1879134;1879136;1879138;1879140;1879142;1879144;1879146;1879148;1879150;1879152;1879154;1879156;1879158;1879160;1879162;1879164;1879166;1879168;1879170;1879172;1879174;1879176;1879178;1879180;1879182;1879184;1879186;1879188;1879190;1879192;1879194;1879196;1879198;1879200;1879202;1879204;1879206;1879208;1879210;1879212;1879214;1879216;1879218;1879220;1879222;1879224;1879226;1879228;1879230;1879232;1879234;1879236;1879238;1879240;1879242;1879244;1879246;1879248;1879250;1879252;1879254;1879256;1879258;1879260;1879262;1879264;1879266;1879268;1879270;1879272;1879274;1879276;1879278;1879280;1879282;1879284;1879286;1879288;1879290;1879292;1879294;1879296;1879298;1879300;1879302;1879304;1879306;1879308;1879310;1879312;1879314;1879316;1879318;1879320;1879322;1879324;1879326;1879328;1879330;1879332;1879334;1879336;1879338;1879340;1879342;1879344;1879346;1879348;1879350;1879352;1879354;1879356;1879358;1879360;1879362;1879364;1879366;1879368;1879370;1879372;1879374;1879376;1879378;1879380;1879382;2119624;2131122;2199714;2199716;2199718;2199720;2199722;2199724;2199726;2199728;2199730;2199732;2199734;2199736;2199738;2199740;2199742;2199744;2199746;2199748;2199750;2199752;2199754;2199756;2199758;2199760;2199762;2199764;2199766;2199768;2199770;2199772;2199774;2199776;2199778;2199780;2199782;2199784;2199786;2199788;2199790;2199792;2199794;2199796;2199798;2199800;2199802;2199804;2199806;2199808;2199810;2199812;2199814;2199816;2199818;2199820;2199822;2199824;2199826;2199828;2199830;2199832;2199834;2199836;2199838;2199840;2199842;2199844;2199846;2199848;2199850;2199852;2199854;2199856;2199858;2199860 A004X42;ECD00006;ECD00025;ECD00119;ECD00241;ECD00281;ECD00312;ECD01268;ECD01333;ECD01385;ECD01414;ECD01650;ECD02351;ECD03103;ECD03330;ECD03852;ECD03934;ECD04138;ECD04168;ECD04280;ECD04383;ECD04413;ECD04414;ECD05250;ECD05318;ECD05472;ECD05535;ECD05658;ECD05814;ECD06093;ECD06174;ECD06243;ECD06431;ECD06467;ECD06541;ECD06779;ECD07027;ECD07062;ECD07338;ECD07532;ECD07973;ECD08139;ECD08387;ECD08388;ECD08815;ECD10406;ECD10540;ECD10541;ECD10701;ECD10736;ECD10941;ECD11041;ECD11042;ECD11287;ECD11357;ECD11507;ECD11618;ECD11686;ECD11756;ECD12071;ECD12107;ECD12108;ECD12179;ECD12248;ECD12395;ECD12548;ECD12660;ECD12687;ECD12896;ECD12977;ECD13197;ECD13353;ECD13510;ECD13677;ECD14284;ECD14740;ECD14867;ECD15581;ECD15989;ECD16174;ECD16204;ECD16382;ECD16514;ECD16614;ECD16638;ECD16964;ECD17227;ECD17622;ECD17836;ECD17993;ECD18434;ECD18732;ECD19955;ECD20057;ECD20180;ECD20499;ECD20560;ECD20627;ECD21055;ECD21870;ECD22114;ECD22915;ECD23132;ECD23179;ECD23335;ECD23602;ECD23624;ECD23702;ECD23946;ECD24153;REN10000;REN10001;REN10002;REN10003;REN10004;REN10005;REN10006;REN10007;REN10008;REN10009;REN10010;REN10011;REN10012;REN10013;REN10014;REN10015;REN10016;REN10017;REN10018;REN10019;REN10020;REN10021;REN10022;REN10023;REN10024;REN10025;REN10026;REN10027;REN10028;REN10029;REN10030;REN10031;REN10032;REN10033;REN10034;REN10035;REN10036;REN10037;REN10038;REN10039;REN10040;REN10041;REN10042;REN10043;REN10044;REN10045;REN10046;REN10047;REN10048;REN10049;REN10050;REN10051;REN10052;REN10053;REN10054;REN10055;REN10056;REN10057;REN10058;REN10059;REN10060;REN10061;REN10062;REN10063;REN10064;REN10065;REN10066;REN10067;REN10068;REN10069;REN10070;REN10071;REN10072;REN10073;REN10074;REN10075;REN10076;REN10077;REN10078;REN10079;REN10080;REN10081;REN10082;REN10083;REN10084;REN10085;REN10086;REN10087;REN10088;REN10089;REN10090;REN10091;REN10092;REN10093;REN10094;REN10095;REN10096;REN10097;REN10098;REN10099;REN10100;REN10101;REN10102;REN10103;REN10104;REN10105;REN10106;REN10107;REN10108;REN10109;REN10110;REN10111;REN10112;REN10113;REN10114;REN10115;REN10116;REN10117;REN10118;REN10119;REN10120;REN10121;REN10122;REN10123;REN10124;REN10125;REN10126;REN10127;REN10128;REN10129;REN10130;REN10131;REN10132;REN10133;REN10134;REN10135;REN10136;REN10137;REN10138;REN10139;REN10140;REN10141;REN10142;REN10143;REN10144;REN10145;REN10146;REN10147;REN10148;REN10149;REN10150;REN10151;REN10152;REN10153;REN10154;REN10155;REN10156;REN10157;REN10158;REN10159;REN10160;REN10161;REN10162;REN10163;REN10164;REN10165;REN10166;REN10167;REN10168;REN10169;REN10170;REN10171;REN10172;REN10173;REN10174;REN10175;REN10176;REN10177;REN10178;REN10179;REN10180;REN10181;REN10182;REN10183;REN10184;REN10185;REN10186;REN10187;REN10188;REN10189;REN10190;REN10191;REN10192;REN10193;REN10194;REN10195;REN10196;REN10197;REN10198;REN10199;REN10200;REN10201;REN10202;REN10203;REN10204;REN10205;REN10206;REN10207;REN10208;REN10209;REN10210;REN10211;REN10212;REN10213;REN10214;REN10215;REN10216;REN10217;REN10218;REN10219;REN10220;REN10221;REN10222;REN10223;REN10224;REN10225;REN10226;REN10227;REN10228;REN10229;REN10230;REN10231;REN10232;REN10233;REN10234;REN10235;REN10236;REN10237;REN10238;REN10239;REN10240;REN10241;REN10242;REN10243;REN10244;REN10245;REN10246;REN10247;REN10248;REN10249;REN10250;REN10251;REN10252;REN10253;REN10254;REN10255;REN10256;REN10257;REN10258;REN10259;REN10260;REN10261;REN10262;REN10263;REN10264;REN10265;REN10266;REN10267;REN10268;REN10269;REN10270;REN10271;REN10272;REN10273;REN10274;REN10275;REN10276;REN10277;REN10278;REN10279;REN10280;REN10281;REN10282;REN10283;REN10284;REN10285;REN10286;REN10287;REN10288;REN10289;REN10290;REN10291;REN10292;REN10293;REN10294;REN10295;REN10296;REN10297;REN10298;REN10299;REN10300;REN10301;REN10302;REN10303;REN10304;REN10305;REN10306;REN10307;REN10308;REN10309;REN10310;REN10311;REN10312;REN10313;REN10314;REN10315;REN10316;REN10317;REN10318;REN10319;REN10320;REN10321;REN10322;REN10323;REN10324;REN10325;REN10326;REN10327;REN10328;REN10329;REN10330;REN10331;REN10332;REN10333;REN10334;REN10335;REN10336;REN10337;REN10338;REN10339;REN10340;REN10341;REN10342;REN10343;REN10344;REN10345;REN10346;REN10347;REN10348;REN10349;REN10350;REN10351;REN10352;REN10353;REN10354;REN10355;REN10356;REN10357;REN10358;REN10359;REN10360;REN10361;REN10362;REN10363;REN10364;REN10365;REN10366;REN10367;REN10368;REN10369;REN10370;REN10371;REN10372;REN10373;REN10374;REN10375;REN10376;REN10377;REN10378;REN10379;REN9953;REN9954;REN9955;REN9956;REN9957;REN9958;REN9959;REN9960;REN9961;REN9962;REN9963;REN9964;REN9965;REN9966;REN9967;REN9968;REN9969;REN9970;REN9971;REN9972;REN9973;REN9974;REN9975;REN9976;REN9977;REN9978;REN9979;REN9980;REN9981;REN9982;REN9983;REN9984;REN9985;REN9986;REN9987;REN9988;REN9989;REN9990;REN9991;REN9993;REN9994;REN9995;REN9996;REN9997;REN9998;REN9999;RH11708;RH75451;SHGC-33355;STS-AA018412;WI-14026;stSG618922;stSG618923;stSG618924;stSG618925;stSG618926;stSG618927;stSG618928;stSG618929;stSG618930;stSG618931;stSG618932;stSG618933;stSG618934;stSG618937;stSG618938;stSG618939;stSG618940;stSG618941;stSG618942;stSG618943;stSG618944;stSG618945;stSG618946;stSG618947;stSG618948;stSG618949;stSG618950;stSG618951;stSG618952;stSG618953;stSG618954;stSG618955;stSG618956;stSG618957;stSG618958;stSG618960;stSG618961;stSG618962;stSG618963;stSG618964;stSG618965;stSG618966;stSG618967;stSG618968;stSG618969;stSG618970;stSG618971;stSG618972;stSG618974;stSG618975;stSG618976;stSG618977;stSG618978;stSG618979;stSG618980;stSG618981;stSG618982;stSG618983;stSG618984;stSG618985;stSG618986;stSG618987;stSG618988;stSG618989;stSG618990;stSG618991;stSG618992;stSG618993;stSG618994;stSG618995;stSG618996;stSG618997;stSG618998;stSG619000 FLJ10996;FLJ25197;MGC13033 OTTHUMP00000064463;OTTHUMP00000180677;coiled-coil domain-containing protein 93 protein-coding ENSG00000125633 HGNC:25611 08557 VALIDATED 1344859 CCHCR1 coiled-coil alpha-helical rod protein 1 INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); protein export from nucleus (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN centriole; cytoplasm; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; elemental selenium 6 6 6 p21.3 32710440 32726241 - 31110216 31126015 - 31142439 31158238 - 6480464;8554872 10545595;10888604;11348465;11875053;12023963;12477932;12909641;14675183;14702039;15146197;15214895;15539411;15654960;16141233;16713569;17179747;17221218;17340018;17530646;18029348;18174193;18305892;19242354;19551138;19851445;19915573;20379614;21139048;21738480;21743467;21810746;21890473;21906983;21912425;21988832;22182809;23144326;23189171;23263863;23955597;24250222;7566098 54535 A2ABH0;A2ABH1;A2ABH3;A2ABH4;A2ABH5;B0S7V6;B0V092;B4DIA2;D2IYK9;D6R9W9;D6RA02;D6RAE7;D6RB88;D6RBG1;D6RD84;D6RDI7;D6RE89;E7EPK4;E7EQC5;E7EQE8;E9PGB6;E9PHV1;M1T2K8;M1TIV4;Q2TB68;Q5STF0;Q769H0;Q8TD31 AA356205;AB029331;AB029343;AB088104;AB112474;AB112475;AB202104;ABBA01038068;ABBA01038069;AC004195;AF216493;AK000204;AK000217;AK000533;AK289446;AK295494;AK310626;AL662833;AL662844;AL773544;AMYH02013443;AMYH02013444;AMYH02013445;AY029160;BA000025;BC110534;BC110535;BX927139;CH471081;CN428429;CR457227;CR753819;CR759815;CR847794;DC357362;NM_001105563;NM_001105564;NM_019052;XM_005272832;XM_005272833;XM_005272835;XM_005272836;XM_005272839;XM_005272840;XM_005274987;XM_005274988;XM_005274990;XM_005274991;XM_005274994;XM_005274995;XM_005275137;XM_005275140;XM_005275265;XM_005275269;XM_005275422;XM_005275423;XM_006715119;XM_006725488;XM_006725702;XM_006725819;XM_006725911;XM_006726003;XM_006726004 AAF74221;AAI10535;AAI10536;AAK55759;BAA81890;BAA82158;BAA91007;BAA91016;BAA91236;BAB63313;BAC54937;BAD05130;BAD05131;BAE78628;BAF82135;BAG58414;CAG33508;EAX03361;EAX03362;NP_001099033;NP_001099034;NP_061925;Q8TD31;XP_005272889;XP_005272890;XP_005272892;XP_005272893;XP_005272896;XP_005272897;XP_005275044;XP_005275045;XP_005275047;XP_005275048;XP_005275051;XP_005275052;XP_005275194;XP_005275197;XP_005275322;XP_005275326;XP_005275479;XP_005275480;XP_006715182;XP_006725551;XP_006725765;XP_006725882;XP_006725974;XP_006726066;XP_006726067 Hs.485075 1768963;1790855;1790857;2181757;2191569 D6S2687;D6S2688;MARC_26584-26585:1033750163:1;RH46639;WI-15384 C6orf18;HCR;MGC126371;MGC126372;SBP;pg8 HCR (a-helix coiled-coil rod homologue);OTTHUMP00000029150;OTTHUMP00000165080;OTTHUMP00000165081;OTTHUMP00000165085;OTTHUMP00000165088;StAR-binding protein;alpha-helical coiled-coil rod protein;putative gene 8 protein protein-coding ENSG00000204536 HGNC:13930 05607 605310 VALIDATED 1345074 CCL12 chemokine (C-C motif) ligand 12 337987 AF065934 HGNC:19148 1353511 CCL1 chemokine (C-C motif) ligand 1 This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014] 17 17 17 q12 29597629 29600463 - 32687347 32690252 - 34360328 34363233 - 1580863;4891410;4891418;4891422;4891420;4145109;4145441;4891417;4891408;4891409;4891412;4891421;6480464;8693624 11134301;11157384;12600821;12707363;16864713;17982926;18703681;19057661;20455898;20598643 10409433;10648464;10821677;10942748;10985253;11076863;11133740;11818437;12393595;12477932;12489497;12645948;12949249;12967681;14630801;15340161;15489334;1557400;15814739;15989956;16344560;16540498;16679317;16735693;17122780;17641040;17672898;17693327;17703412;17845580;19117730;19258923;19372141;19423540;19776237;19865101;20056178;20237496;20406964;20438785;20503287;21849907;2212659;22147355;22412388;22479563;22948508;23333304;23811304;23878309;2809212;8077676;9211859;9417093 6346 P22362;Q76BR7 AB110829;ABBA01011215;AC011193;AK312183;AMYH02033336;BC105073;BC105075;CH471147;DA620119;HI574344;M57502;M57506;NM_002981 AAA52705;AAA61196;AAI05074;AAI05076;AAI11915;BAC98367;BAG35116;CBX47661;EAW80204;NP_002972;P22362 Hs.72918 1673077;1733398;1745477 D17S1270;D17S1677;GDB:607775 I-309;P500;SCYA1;SISe;TCA3 C-C motif chemokine 1;OTTHUMP00000163800;T lymphocyte-secreted protein I-309;inflammatory cytokine I-309;small inducible cytokine A1 (I-309, homologous to mouse Tca-3);small-inducible cytokine A1 APPROVED protein-coding ENSG00000108702 HGNC:10609 01654 182281 REVIEWED 731770 CCKAR cholecystokinin A receptor This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008] 4 4 4 p15.2 26934075 26943099 - 26483018 26492042 - 26481396 26490420 - 1625802;1580863;1625200;1358451;734711;2314139;4110816;4110818;4110822;4110817;6480464;7257724;8554872 10457335;10572328;12777967;12851875;15908333;16815799;8222074;9192855;9239407;9530226 10026437;10400673;10555959;10595537;10682840;10893485;11300760;11368834;11495676;11549403;11730982;12198366;12424565;12477932;12627462;12801592;14534299;14691070;15100163;15108185;15313848;15340101;15363473;15489334;15632187;15634012;15723764;15740988;15786550;15927089;16362631;16754659;17413443;17413452;17457313;17597711;17944886;18444993;18577758;18583979;18776046;18832011;18996102;19086053;19751565;19753663;19760980;19874574;19913121;20023595;20351714;20424473;20468064;20535329;20538960;20558763;20602615;20628086;20732371;21728335;21813391;22021636;22396142;22825913;23341962;23701593;7557108;7759110;8343165;8503909;9006937;9603948 886 P32238 ABBA01032727;AC093637;AK313978;AMYH02008927;AY322549;BC074987;CH471069;D85606;L13605;L19315;NG_012053;NM_000730;U23430 AAA02819;AAA35659;AAA91123;AAH74987;AAP84362;BAA90879;BAG36692;EAW92850;NP_000721;P32238 Hs.129 1851913;1852921;2149104 D4S3157;SHGC-50173;STS-L19315 CCK-A;CCK-AR;CCK1-R;CCK1R;CCKRA CCK-A receptor;OTTHUMP00000158717;cholecystokinin receptor type A;cholecystokinin type-A receptor;cholecystokinin-1 receptor APPROVED protein-coding ENSG00000163394 HGNC:1570 00322 118444 REVIEWED 737505 CCK cholecystokinin Cholecystokinin is a brain/gut peptide. In the gut, it induces the release of pancreatic enzymes and the contraction of the gallbladder. In the brain, its physiologic role is unclear. The cholecystokinin pro-hormone is processed by endo- and exo-proteolytic cleavages. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] 3 3 3 p22.1 42238692 42247029 - 42299315 42307662 - 42257826 42266170 - 1625798;1358450;1625802;1625799;1626086;1580863;2313635;2313638;2313636;1626108;6480464 10668930;12777967;15536283;15647484;16989746;17157334;17443025;8988922;9754694 10320330;10400673;10438490;10595537;11025367;11076522;11140838;11232009;11278902;11300760;11368834;11443535;11509018;11713976;11713982;11713985;11724786;11803530;12065614;12116180;12116188;12198366;12477932;12479974;12572876;12627463;12695525;12789687;12915664;12920059;1370477;14764444;15001692;15068617;15100163;15152034;15313848;15328192;15354400;15374756;15489334;15520004;15533776;15624269;15682471;15740988;15743365;15837012;16185316;16712791;16754659;17192493;17208296;17332474;17365745;17438102;17964616;18066654;18154642;18234641;18396340;18423848;18555802;18577758;18996102;19058789;19086053;19339394;19497313;19741117;19760980;19874574;19914303;20023595;20036221;20424473;20457200;20468064;20602615;20732371;20734064;20930049;21139048;21154912;21186400;21506165;21542221;21753024;21985915;22188045;22344221;23064014;23233532;23349895;23564449;24001751;24177032;24252886;24348519;24692543;3011648;3582983;3856870;6288173;6529856;8804068;9006937;9275097;9399627;9603948 885 P06307;Q6FG82 ABBA01024771;AC018358;AK289716;AMYH02006625;AY514491;BC008283;BC093055;BC111026;BT006991;CB154424;CB961869;CD250282;CH471055;CR542226;L00354;L29399;L29400;NM_000729;NM_001174138 AAA53094;AAH08283;AAH93055;AAI11027;AAP35637;AAR89908;ABM92185;ABW03280;ABW03283;BAF82405;CAG47022;EAW64644;EAW64645;NP_000720;NP_001167609;P06307 Hs.458426 1741425;1794326;1855866 GDB:181198;PMC311033P1;SHGC-76858 MGC117187 OTTHUMP00000209368;OTTHUMP00000209369;cholecystokinin triacontatriapeptide;prepro-cholecystokinin APPROVED protein-coding ENSG00000187094 HGNC:1569 00321 118440 REVIEWED 1352726 CCL16 chemokine (C-C motif) ligand 16 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 31213091 31218079 - 34303529 34310373 - 35976493 35982360 - 1580863;6480464;8554872 10213461;10235110;10671294;10910894;11470772;12477932;14525962;15001559;15034014;15265943;15489334;16226254;17122780;17703412;18240029;18577758;19258923;19494526;20237496;20503287;21288736;21951809;22857868;2834384;8661057;9545580;9596672;9642106 6360 O15467 AB007454;AB018249;ABBA01011242;AC004675;AC244100;AF039954;AF039955;AF055467;AF088219;BC096352;BC099662;BC099663;BC099664;CH471147;NM_004590;U91746;XM_005258020;XM_006725334 AAC05587;AAC28844;AAC63330;AAC97450;AAC97451;AAH99662;BAA24057;BAA35138;EAW80114;NP_004581;O15467;XP_005258077;XP_006725397 Hs.10458 1684076;2178132;5015619;5015861;5020946;5022651;5024756;5037552;7185938 D10S16;D11S2921;D11S3114;D17S2005;D8S2279;L17971;RH80030;RH98255 CKb12;HCC-4;LCC-1;LEC;LMC;MGC117051;Mtn-1;NCC-4;NCC4;SCYA16;SCYL4 C-C motif chemokine 16;IL-10-inducible chemokine;ILINCK;OTTHUMP00000163951;chemokine CC-4;chemokine LEC;liver CC chemokine-1;liver-expressed chemokine;lymphocyte and monocyte chemoattractant;monotactin-1;new CC chemokine 4;small inducible cytokine subfamily A (Cys-Cys), member 16;small-inducible cytokine A16 APPROVED protein-coding ENSG00000275152 HGNC:10614 03233 601394 REVIEWED 1349365 CCL17 chemokine (C-C motif) ligand 17 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq, Sep 2014] 16 16 16 q13 41938673 41949969 + 57438679 57449974 + 57404767 57416062 + 1580863;1626251;2306304;4145487;4145603;4145489;4145606;4145614;4145513;4145517;4145486;4145491;4145515;4145612;4145494;4145495;4145500;4145604;4145498;4145488;4145602;6480464;6484113 11160256;11956056;15293604;15466387;15491423;15947487;15993846;16387607;17517104;17641031;17898016;17949965;18026571;18276722;18684970;18785972;19715610;20071465;20074456;20237293 10493829;10540332;10737800;11468146;12104083;12126650;12193695;12390321;12413771;12441140;12456591;12477932;12485447;12499558;12615362;12615364;12642832;12715916;12832759;12871855;12949249;13679391;14677179;14734737;14747532;14767451;14962085;15047814;15067078;15113590;15335355;15474066;15489334;15500644;15813816;15944327;15955100;16583210;16859899;17023689;17546636;17548604;17565019;17703412;17967467;17979978;18004070;18191727;18224687;18266834;18271928;18375080;18395252;18435706;18547160;18691306;18824549;18937546;19005490;19088500;19236603;19258923;19371952;19421847;19639049;20002703;20237496;20374230;20503287;20625996;20669282;20800454;21129807;21707761;22017510;22058214;22322668;22533972;22775568;22981793;23224400;23225085;23340773;23454147;23649168;23731651;23782855;23942559;24582560;8702936;9070951;9169480;9430724;9521068;9691168;9743322 6361 Q92583 ABBA01025270;AC004382;AC009052;AMYH02032107;BC069107;BC112066;BC112068;BE061171;CH471092;D43767;EF064767;NM_002987 AAC24308;AAH69107;AAI12067;AAI12069;ABK41950;BAA07824;EAW82921;NP_002978;Q92583 Hs.546294 1688150;2129175 RH66539;RH80761 A-152E5.3;ABCD-2;MGC138271;MGC138273;SCYA17;TARC C-C motif chemokine 17;CC chemokine TARC;OTTHUMP00000164673;T cell-directed CC chemokine;small inducible cytokine subfamily A (Cys-Cys), member 17;small-inducible cytokine A17;thymus and activation-regulated chemokine APPROVED protein-coding ENSG00000102970 HGNC:10615 03309 601520 REVIEWED 6904431 CCL15-CCL14 CCL15-CCL14 readthrough (NMD candidate) A cluster of CC chemokine genes exists on chromosome 17q11.2. The CC chemokines are secreted proteins characterized by two adjacent cysteines. The genes chemokine (C-C motif) ligand 14 and chemokine (C-C motif) ligand 15 are adjacent loci and express read-through transcripts spanning both loci. The read-through transcripts were originally interpreted as bicistronic transcripts, but they are represented as non-coding because they are candidates for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Dec 2009] 17 17 17 q12 31220248 31238646 - 34310692 34329084 - 35983656 36002038 - 6480464;8554872 10213461;11527984;12477932;20967262;8661057;9600961 348249 ABBA01011242;AC004675;AC069363;AC244100;BC140941;NR_027921;NR_027922;Z70292;Z70293 AAI40942 1337007;1745465;1745467;1773201;1776363 D17S758;GDB:607751;GDB:607754;RH12877;STS-H22017 APPROVED ncrna HGNC:44436 VALIDATED 1351854 CCL11 chemokine (C-C motif) ligand 11 This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. [provided by RefSeq, Sep 2014] 17 17 17 q12 29522500 29525011 + 32612687 32615199 + 34285668 34288180 + 1580863;2307177;2307196;4145448;4140459;4145411;4145415;4145432;4145451;4145457;4145479;4145482;4145442;4145450;2307108;4891485;4145387;4145393;4145395;4145392;4145441;4145443;4145445;4145455;4145458;4145460;4891487;4145452;4145462;4145389;4145437;4145439;4145477;4145447;4145461;4145472;4145481;4145471;5130930;6480464;6484113;6907045;7240710;7247743;5683918;7247742;7248410;7248413;7248417;7247740;7247741;7247739;7248411;7248414;7248412;7248408;7248409;7248415;7248416;8699517;8554872 10415058;10595930;10861753;10955955;11290805;11564646;11877329;11991282;12600821;12682842;12707338;12750406;15181185;15236177;15673311;15681407;15823807;16120080;16168564;16251415;16304252;16314464;16765544;17060636;17074272;17297249;17620002;17845580;17983873;17999785;18250471;18595729;19296494;19865101;19925666;20644177;20656925;20704746;20832583;20841614;21113841;21652218;21952467;22160777;22176730;22427838;22778179;22932891;23049540;23089405;23893332;9034156;9665468;9892814 10072545;10201960;10415069;10477718;10642580;10706854;10708591;10734104;11264152;11390394;11742272;11884459;11966763;12065904;12082592;12192108;12193745;12234713;12370400;12392390;12393570;12477932;12884299;12915771;12916705;12949249;14571188;14725564;14733956;15067078;15186951;15207712;15223611;15389872;15489334;15537425;15661912;16029496;16169070;16184405;16391516;16461130;16510147;16517749;16864713;16872505;16874958;16879311;17016617;17220216;17438849;17438850;17541284;17672898;17703412;17827376;18055844;18203973;18275857;18312459;18312691;18380907;18398743;18515987;18523302;18699931;18712274;18714023;18844613;18950617;18971287;18974840;18981162;19028820;19056482;19131662;19247692;19258923;19263529;19264973;19338989;19351767;19423540;19479237;19522186;19525930;19559392;19578796;19729601;19913121;19937162;19948975;20056178;20227754;20236835;20237496;20306659;20406964;20438785;20444156;20503287;20505746;20536507;20603037;20628086;20628624;20934424;21052690;21077277;21368236;21406396;21601544;21825098;21900206;22114952;22271279;22412388;22773402;22775568;22846146;23049769;23059958;23061798;23114905;23128233;23149666;23180368;23477905;23496801;23532518;23679817;23820464;23904440;24273921;24482230;24600981;25080789;8597956;8609214;8631813;8642344;8674119;8676064;8780731;9169149;9299399;9405404;9558100;9578468;9712872 6356 P51671;Q6I9T4 AB063614;AB063616;ABBA01011212;AC005549;AI446061;AMYH02033336;BC017850;BF197516;CH471147;CR457421;EF064768;NG_012212;NM_002986;U34780;U46572;U46573;Z69291;Z75668;Z75669;Z92709 AAA98957;AAC50369;AAC51297;AAH17850;ABK41951;ABM82895;ABM86084;CAA93258;CAA99997;CAA99998;CAB07027;CAG33702;EAW80209;NP_002977;P51671 Hs.54460 1690988;2217112 CCL11_2928;RH75873 MGC22554;SCYA11 C-C motif chemokine 11;OTTHUMP00000163793;eosinophil chemotactic protein;eotaxin;eotaxin-1;small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin);small-inducible cytokine A11 APPROVED protein-coding ENSG00000172156 HGNC:10610 03098 600807;601156;609423 REVIEWED 1321539 CCL15 chemokine (C-C motif) ligand 15 This gene is located in a cluster of similar genes in the same region of chromosome 17. These genes encode CC cytokines, which are secreted proteins characterized by two adjacent cysteines. The product of this gene is chemotactic for T cells and monocytes, and acts through C-C chemokine receptor type 1 (CCR1). The proprotein is further processed into numerous smaller functional peptides. Naturally-occurring readthrough transcripts occur from this gene into the downstream gene, CCL14 (chemokine (C-C motif) ligand 14). [provided by RefSeq, Jan 2013] 17 17 17 q11.2 31234218 31238646 - 34323476 34329084 - 35997582 36002038 - 1580863;6480464 10202040;10213461;10320325;10604595;11527984;11832479;11888507;11943214;12477932;12759139;14984572;15001559;15179048;15251437;15340161;15894113;15905581;16034099;16341674;16364464;16737685;17296613;17703412;18587271;19203252;19220835;19258923;19669929;19812544;20016943;20126378;20237496;20379614;20503287;20616008;22092970;22147696;22279551;23383108;23690481;8661057;9129202;9346309;9548457;9558365;9600961;9624581 6359 Q16663 ABBA01011242;AC004675;AC069363;AC244100;AF031587;AF088219;AI244164;BX098368;BX497188;CH471147;NM_032965;U58914 AAB94617;AAC63328;AAD10847;EAW80110;EAW80111;EAW80112;EAW80113;NP_116741;Q16663 Hs.272493 1337007;1745467;1773201 D17S758;GDB:607754;RH12877 HCC-2;HMRP-2B;LKN1;Lkn-1;MIP-1 delta;MIP-1d;MIP-5;MRP-2B;NCC-3;NCC3;SCYA15;SCYL3;SY15 C-C motif chemokine 15;CC chemokine 3;OTTHUMP00000163955;chemokine CC-2;leukotactin 1;leukotactin-1;macrophage inflammatory protein 5;new CC chemokine 3;small inducible cytokine subfamily A (Cys-Cys), member 15;small-inducible cytokine A15 APPROVED protein-coding ENSG00000275718 HGNC:10613 03232 601393 VALIDATED 1353724 CCL13 chemokine (C-C motif) ligand 13 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [provided by RefSeq, Sep 2014] 17 17 17 q11.2 29593701 29595859 + 32683471 32685629 + 34356452 34358610 + 1580863;6480464;8549496;8549575;8548856;8548882;2316760;8548896;2307143;2307055;8549464;8549473;8549729;8548855;8549513;8549576;8548884;8548890;8549532;2298858;8549485;8548878;8549481;8549488;4145614;8549459;8549567;8549625;8549633;8548881;8549519;8548839;8548840;8549479;8549642;8548873;8549548;8548831;8548851;8549487;8548832;8548858;6480432;8549580;8549739;8548848;2307005;7829760;8549494;8549535;8549542;8549543;8549573;8549577;8549578;8549645;8549648;8549649;8549730;1358455;8548844;8548845;8549472;8549477;8548850;8549740;8549743;8549770;8549771;8549774;8548843;8548846;2307059;2307015;7401235;8549511;1358456;1581155;1581156;1581157;1581158;1581161;1581162;1581163;2301862;2306979;2306980;2306981;2306982;2306983;2306984;2306985;2306986;2306988;2306989;2306990;2306991;2306992;2306993;2306995;2306998;2306999;2307000;2307001;2307002;2307003;2307004;2307006;2307008;2307009;2307010;2307014;2307016;2307024;2307029;2307033;2307038;2307041;2307043;2307046;2307053;2307054;2307057;2307114;2307141;2307145;2307147;2307176;2307195;4142853;4143275;4145112;4145441;4145509;4891425;4891427;4891428;4891429;4891433;4891439;4891442;4891443;4891450;4891451;4891453;4891456;4891458;4891459;4891460;4891461;4891466;5135051;5135284;5683876;6218988;8549475;8549616;2307052;8549495;8549547;8549627;8549732;8548888;8548879;8549483;8661671;8655962;8661717;8657365;8661224;8661733 10068207;10411686;10844611;10908159;11241588;11317664;11472393;11486244;12080327;12098510;12223446;12239249;12507779;12600821;12605265;12712358;12925209;12950323;14566334;14611812;14638441;14662900;14967845;15034225;15041200;15109911;15308783;15492853;15573249;15627719;15742444;15793719;15823270;15882261;16116069;16224495;16273763;16280979;16284287;16297799;16697654;16698015;16710171;16832247;16844401;16891764;16997857;17052673;17081714;17180354;17284607;17304115;17314328;17389519;17591667;17666800;17803693;17876613;17898087;17922026;17950261;17964702;17968528;17977907;17982227;17989143;18031723;18087711;18093596;18167211;18284633;18292571;18297440;18388116;18419759;18433541;18459941;18459944;18469848;18473828;18475188;18482727;18555988;18642776;18690297;18702087;18726678;18753699;18762729;18806609;18958307;18976114;19059387;19060786;19087668;19092169;19097668;19111613;19118698;19139725;19144177;19164781;19210118;19260320;19369290;19373627;19401162;19409809;19515386;19553621;19615053;19617401;19629725;19648283;19762564;19782713;20042590;20056091;20071465;20111728;20205697;20396927;20404807;20438838;20497022;20618689;20737477;20813992;20833968;20855682;20921064;20937997;20966041;20967263;21049277;21095018;21268133;21285114;21487414;21712071;21767135;21850157;21894146;22066978;22172228;22466130;22531750;22564672;22721162;22983634;23549806;24142887;24631631;7525714;7860708;8231108;8283136;8558841;8774140;8903512;9042155;9270493;9404715;9426952;9500701;9537339;9544579;9605182;9865755 10049733;10072545;10477718;10734104;11342433;11400154;11597922;12149192;12477932;12731055;12805085;12915769;12949249;14560935;15489334;16169070;16625196;16855189;17181634;17541284;17703412;17824960;17851891;18219197;18660381;19258923;19423540;19565514;19865101;20056178;20139115;20237496;20406964;20438785;20503287;20628624;21327296;21832049;22393877;22412388;23128233;23375121;23846739;8642349;8661057;8955214;9060459;9195948;9405404;9558100 6357 J3QLQ9;Q99616 ABBA01011214;AC002482;AC011193;AJ000979;AJ001634;AMYH02033336;BC008621;BT007385;CH471147;CR450337;NM_005408;U46767;U59808;X98306;Z77650;Z77651 AAB38703;AAB67307;AAD09362;AAH08621;AAP36049;ABM82423;ABM85614;CAA04888;CAA66950;CAB01111;CAB01112;CAG29333;EAW80205;EAW80206;NP_005399;Q99616 Hs.414629 1745479;2136807;2145444;2217114 CCL13__3123;GDB:607778;RH45400;RH70645 CKb10;MCP-4;MGC17134;NCC-1;NCC1;SCYA13;SCYL1 C-C motif chemokine 13;CK-beta-10;OTTHUMP00000163804;monocyte chemoattractant protein 4;monocyte chemotactic protein 4;new CC chemokine 1;small inducible cytokine subfamily A (Cys-Cys), member 13;small-inducible cytokine A13 APPROVED protein-coding ENSG00000181374 HGNC:10611 03230 601391 REVIEWED 1347908 CCL20 chemokine (C-C motif) ligand 20 This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymphocytes and can repress proliferation of myeloid progenitors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] 2 2 2 q36.3 222448001 222451723 + 228678558 228682280 + 227813842 227817564 + 1580863;6480464;6907045;7483581;7483582;7483585;7483593;7483630;7488893;7483612;7483594;7483600;7488892;7483622;7483602;7483603;7483609;7483616;7483632;7488895;7483629;7483625;69987;2311385;7483618;7483587;7488896;7483623;7483584;7483583;7483608;7483597;7483601;7483613;7483580;7483586;7483599 10225458;10843722;11133838;14500387;15287366;16081850;16454813;16469832;16702571;17545018;17606602;17664181;17977275;18384452;18422729;19027509;19162238;19428685;20007286;20926800;21715145;21742595;21887805;22040257;22048239;22287435;22469443;22825326;22895364;23116218;23192593;23371320;23702781;9916893 10064080;10438902;10521347;10601351;11035086;11083865;11352563;11532377;11807793;11877260;11994140;11994436;12010510;12067311;12089333;12149255;12239608;12356943;12414801;12427784;12477932;12496186;12528183;12684696;12760962;12821122;12949249;14714554;15069060;15336571;15474097;15489334;15618437;15671814;15679580;15815621;15972662;16034074;16095490;16215992;16531471;16764701;16820679;17075975;17133360;17241869;17295217;17356539;17548638;17562763;17703191;17903302;18047937;18086840;18240029;18512817;18576931;18577758;18684866;18703490;18757306;18980993;19006683;19233848;19295614;19303953;19305396;19324905;19340288;19350575;19423540;19479364;19492413;19567485;19644053;19784662;19797510;19885605;19913121;20023216;20054338;20064082;20237496;20400327;20406964;20420712;20438785;20439195;20459729;20511548;20595617;20628086;20816914;20819093;20942936;20969772;21178014;21178448;21248725;21300824;21724701;21858117;21881590;21911466;21912453;21935436;21949768;21961038;21988832;22001440;22019504;22099878;22286692;22388957;22533972;22553918;22796894;22857950;22860513;22911498;22926691;22926920;23011799;23118497;23383108;23460117;23568457;23681234;23717583;23790181;23817679;23898208;24401998;24657657;8076819;9013939;9038201;9129037;9169459;9223454;9294137 6364 P78556 ABBA01050170;AC073065;AMYH02005926;BC020698;CH471063;D17012;D86955;HI574034;NM_001130046;NM_004591;U64197;U77035 AAB61534;AAC50943;AAH20698;AAX93214;ABM82899;ABM87840;BAA13191;CBX47506;EAW70877;EAW70878;NP_001123518;NP_004582;P78556 Hs.75498 1797352 CCL20_2649 CKb4;Exodus;LARC;MIP-3-alpha;MIP-3a;MIP3A;SCYA20;ST38 C-C motif chemokine 20;CC chemokine LARC;OTTHUMP00000164245;OTTHUMP00000204113;beta chemokine exodus-1;beta-chemokine exodus-1;exodus-1;liver and activation-regulated chemokine;macrophage inflammatory protein 3 alpha;small inducible cytokine subfamily A (Cys-Cys), member 20;small-inducible cytokine A20 protein-coding ENSG00000115009 HGNC:10619 03571 601960 REVIEWED 1345851 CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq, Sep 2014] 17 17 17 q11.2 31301196 31308394 + 34391643 34398841 + 36064283 36071481 + 1580863;6480464 10049593;10087196;11745396;11978786;12161279;12477932;12626578;12646652;12716654;12805086;12949249;14578205;15489334;15494534;15661937;15702402;16169070;16415274;16670340;16736095;16773571;16984635;17181634;17207965;17469163;17703412;17875202;17900259;17909104;17979978;19017877;19036375;19258923;19357939;19423540;19808030;19913121;19937162;19958819;20237496;20406964;20438785;20503287;20568229;20608885;20628086;20674579;21251883;21324976;21481794;21539615;21778167;21928244;21943944;22117697;22203932;22404649;22589264;22629457;22649201;22848587;23029252;23029519;23102918;23331560;23349697;23433718;23588945;23742785;23786278;23932459;23999500;24001613;24011266;24823638;9129202;9192897;9233607;9570561 6362 P55774 AB000221;AB012113;AB451458;ABBA01011243;AC069363;AC243829;AF082212;AF082213;AF082214;AF111198;BC069700;BC096124;BC096125;BC096126;BC096127;BU617136;CH471147;CR407660;CS115015;NM_002988;Y13710 AAC32287;AAD30390;AAH69700;AAH96124;AAH96125;AAH96126;AAH96127;ADQ32936;BAA21670;BAA34368;BAG70272;CAA74039;CAG28588;CAJ15096;EAW80102;NP_002979;P55774 Hs.143961 1646248;2110307;2163086;2185993 CCL18_3012;D17S1315;RH16601;SHGC-33674 AMAC-1;AMAC1;CKb7;DC-CK1;DCCK1;MIP-4;PARC;SCYA18 C-C motif chemokine 18;CC chemokine PARC;CC chemokine ligand 18;OTTHUMP00000163954;alternative macrophage activation-associated CC chemokine 1;chemokine (C-C), dendritic;dendritic cell chemokine 1;macrophage inflammatory protein 4;pulmonary and activation-regulated chemokine;small inducible cytokine A18;small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated;small-inducible cytokine A18 APPROVED protein-coding HGNC:10616 04784 603757 REVIEWED 1604060 CCL14 chemokine (C-C motif) ligand 14 This gene, chemokine (C-C motif) ligand 14, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene induces changes in intracellular calcium concentration and enzyme release in monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Read-through transcripts are also expressed that include exons from the upstream cytokine gene, chemokine (C-C motif) ligand 15, and are represented as GeneID: 348249. [provided by RefSeq, Dec 2009] 17 17 17 q11.2 31220248 31223320 - 34310692 34313764 - 35983656 35986728 - 6480464;8554872 10213461;10978165;11085751;11527984;12477932;14718574;15338056;15489334;16341674;16344560;17353931;17691823;17703412;18367676;18602166;19258923;19553544;19632987;19812544;20379614;20503287;21937684;21988832;23383108;7829101;8551235;8661057;9405404;9600961 6358 Q16627 AA612866;ABBA01011242;AC004675;AC069363;AC244100;AF088219;AK122606;BC038289;BC045165;BC050647;BI496964;BM853193;CH471147;DA821276;NM_032962;NM_032963;Z49269;Z49270 AAC63329;AAF23982;AAH38289;AAH45165;ADR82662;CAA89263;CAA89264;EAW80105;EAW80106;EAW80107;EAW80108;NP_116738;NP_116739;Q16627 Hs.272493;Hs.740501 1745465;1776363 GDB:607751;STS-H22017 CC-1;CC-3;CKb1;FLJ16015;HCC-1;HCC-1(1-74);HCC-1/HCC-3;HCC-3;MCIF;NCC-2;NCC2;SCYA14;SCYL2;SY14 C-C motif chemokine 14;OTTHUMP00000176860;chemokine CC-1;chemokine CC-1/CC-3;chemokine CC-3;hemofiltrate CC chemokine 1;new CC chemokine 2;small inducible cytokine subfamily A (Cys-Cys), member 14;small-inducible cytokine A14 APPROVED protein-coding ENSG00000276409 HGNC:10612 03231 601392 REVIEWED 1321181 CCL19 chemokine (C-C motif) ligand 19 This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. [provided by RefSeq, Sep 2014] 9 9 9 p13 34621038 34622745 - 34689567 34691274 - 34689570 34691277 - 1580863;5130912;5130906;5130909;5130918;5130910;5130911;5130908;6480464 12626344;16959919;17717200;17947663;19783686;19933855;20176793 10706668;10861057;11869682;11870628;11929789;11981810;11994492;12474232;12477932;12729902;12949249;14592837;14871974;15019823;15059845;15489334;15546958;15674360;15714581;15778365;16081805;16249377;16500130;16678487;16887149;16904643;17082584;17182562;17469160;17597826;17703412;17709502;17825430;17881634;18047937;18240029;18310327;18577758;18757429;18838169;19258923;19540558;19655301;20002784;20015995;20237496;20503287;20592280;20865789;20942936;20969772;21139048;21464944;22288592;22334704;22976543;23071112;23644527;23740460;23898208;23922113;24111618;24390342;9013939;9153236;9235955;9498785;9743376 6363 Q5VZ75;Q6IBD6;Q99731 AB000887;ABBA01065006;AJ223410;AK311945;AL162231;AMYH02019453;AX772806;BC027968;CH471071;CR456868;EF064766;NM_006274;U77180;U88321 AAC23905;AAC50944;AAH27968;ABK41949;ABM86162;ABW03691;BAA20383;BAG34886;CAA11307;CAE06252;CAG33149;EAW58416;NP_006265;Q99731 Hs.50002 1689159;1775232;1776404;2119349 AFM326vd1;RH91355;SHGC-37670;STS-U77180 CKb11;ELC;MGC34433;MIP-3b;MIP3B;SCYA19 C-C motif chemokine 19;CC chemokine ligand 19;CK beta-11;EBI1 ligand chemokine;EBI1-ligand chemokine;MIP-3-beta;OTTHUMP00000021295;OTTHUMP00000021296;beta chemokine exodus-3;beta-chemokine exodus-3;epstein-Barr virus-induced molecule 1 ligand chemokine;exodus-3;macrophage inflammatory protein 3 beta;macrophage inflammatory protein 3-beta;small inducible cytokine subfamily A (Cys-Cys), member 19;small-inducible cytokine A19 APPROVED protein-coding ENSG00000172724 HGNC:10617 03750 602227 REVIEWED 1323745 CCL21 chemokine (C-C motif) ligand 21 This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). [provided by RefSeq, Sep 2014] 9 9 9 p13 34640475 34641620 - 34709002 34710164 - 34709005 34710167 - 1580863;2311360;5130918;5130910;6480464 17372021;17717200;20176793 10201891;10706668;10861057;11083865;11242036;11929789;11943728;11970971;12066416;12393410;12393730;12477932;12651610;12707342;12729902;12847218;12949249;12975309;14517790;14592837;14667884;14709406;14726633;14726959;14978072;15059845;15073111;15342556;15461605;15489334;15546958;15569314;15674360;15778365;15863780;15934082;15972662;16671092;16713569;16887149;16904643;17331965;17460916;17469160;17474076;17495955;17881634;17890452;17949547;17982129;18240029;18308860;18354239;18577758;18757429;18794853;18802075;19082456;19110536;19180477;19624896;19644859;19674979;19750015;19832038;19847900;20049410;20219786;20233754;20439292;20444755;20453842;20461788;20488224;20488940;20498205;20739459;20797713;20889506;21464944;21586211;21666055;21698152;21900206;21972019;22221265;22392503;22427939;22438908;22468089;22619482;22884357;22976543;23498789;23760102;23764550;24035972;24111618;24383579;24390342;24556356;9235955;9257816;9300671;9419363;9507024;9585422 6366 O00585;Q5VZ73;Q6ICR7 AB002409;ABBA01065006;AF001979;AF030572;AJ005654;AK311901;AL162231;AMYH02019453;AY358887;BC027918;BI833188;BP331359;CH471071;CR450326;EF064765;NM_002989;U88320 AAB86594;AAB91454;AAH27918;AAQ13417;AAQ89246;ABK41948;ABM82974;ABM86168;BAA21817;BAG34842;CAA06653;CAG29322;EAW58415;NP_002980;O00585 Hs.57907 1793756;2217116 CCL21_2702;PMC270078P1 6Ckine;CKb9;ECL;MGC34555;SCYA21;SLC;TCA4 C-C motif chemokine 21;Efficient Chemoattractant for Lymphocytes;OTTHUMP00000021303;OTTHUMP00000021304;beta chemokine exodus-2;beta-chemokine exodus-2;exodus-2;secondary lymphoid tissue chemokine;secondary lymphoid-tissue chemokine;small inducible cytokine subfamily A (Cys-Cys), member 21;small-inducible cytokine A21 APPROVED protein-coding ENSG00000137077 HGNC:10620 04113 602737 REVIEWED 1321033 CCL24 chemokine (C-C motif) ligand 24 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 70308880 70310799 - 75440766 75452674 - 75811796 75813715 - 1580863;4145448;4891485;4891483;4891484;4891495;4891487;4145109;4891496;5130930;5130932;4891493;6480464 10415058;12761043;12952266;15207712;15580493;16304252;17060636;17548626;17982926;18712274;19296494 10072545;10713092;10913244;11141953;11286614;11467997;12034562;12192108;12193745;12218106;12477932;12853948;14718574;15340161;15489334;15744457;16391516;17207965;17438849;17630924;17703412;17908961;17917245;18055844;19247692;19258923;19264973;19423540;19522186;19525930;19828696;20056178;20143648;20236835;20237496;20406964;20438785;20503287;20659406;21077277;22846146;22946025;23025269;23477905;23696919;24600981;9104803;9365122;9598329 6369 O00175 ABBA01005890;AC005102;AJ223461;AK312216;AMYH02016068;BC069072;BC069391;CH471220;NM_002991;U85768 AAB51135;AAD15410;AAH69072;AAH69391;ADQ32923;BAG35149;CAA11383;EAW71772;NP_002982;O00175 Hs.247838 Ckb-6;MPIF-2;MPIF2;SCYA24 C-C motif chemokine 24;CK-beta-6;OTTHUMP00000210224;OTTHUMP00000210225;eosinophil chemotactic protein 2;eotaxin-2;myeloid progenitor inhibitory factor 2;small inducible cytokine subfamily A (Cys-Cys), member 24;small-inducible cytokine A24 APPROVED protein-coding HGNC:10623 03931 602495 REVIEWED 1344177 CCL26 chemokine (C-C motif) ligand 26 This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 70266590 70286812 - 75398842 75419064 - 75769524 75789746 - 1580863;4891493;4891487;5130930;4891495;4891483;5130928;5130929;6480464;6484113 15207712;15580493;15947325;16304252;18712274;19296494;21303604 10373330;10415065;10488147;11329013;11425309;11544308;11748272;12061839;12192108;12477932;12689946;12853948;12975309;15039444;15489334;15521376;15784470;15863444;16084752;16264039;16391516;16453027;16604488;17073866;17490641;17541284;17703412;17900656;18055844;18774776;18844613;19141347;19141349;19203252;19258923;19331716;19379605;19423540;19525930;19567623;20056178;20059579;20143648;20236835;20406964;20438785;20503287;20505746;20974991;21077277;21266446;21325281;21493274;21832049;21881593;21985360;22226123;22580413;22739041;22846146;22946025;22948508;22952702;23185525;23477905;23532518;23607908;24323578;24600981;9847074 10344 Q9Y258 AA926779;AB010447;AB016542;ABBA01005884;ABBA01005885;ABBA01005886;AC005102;AF096296;AF124601;AF142434;AMYH02016065;AMYH02016066;AMYH02016067;AY358893;BC069394;BC093773;BC101665;BG211121;CH471220;EF064763;NG_015989;NM_006072;XM_006715837 AAD15411;AAD22197;AAD46495;AAF09265;AAH69394;AAH93773;AAI01666;AAQ89252;ABK41946;BAA36704;BAA84579;EAW71771;NP_006063;Q9Y258;XP_006715900 Hs.131342 1342049;7187955 D7S1500 IMAC;MGC126714;MIP-4a;MIP-4alpha;SCYA26;TSC-1 C-C motif chemokine 26;CC chemokine IMAC;MIP-4-alpha;OTTHUMP00000160954;OTTHUMP00000210227;chemokine N1;eotaxin-3;macrophage inflammatory protein 4-alpha;small inducible cytokine A26;small inducible cytokine subfamily A (Cys-Cys), member 26;small-inducible cytokine A26;thymic stroma chemokine-1 APPROVED protein-coding ENSG00000006606 HGNC:10625 05262 604697 REVIEWED 1351526 CCL22 chemokine (C-C motif) ligand 22 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Sep 2014] 16 16 16 q13 41892697 41900098 + 57392695 57400102 + 57358783 57366190 + 1580863;2306307;2306304;2306306;4145489;4891473;4891471;4145441;4891474;4145517;4891472;4145515;4891475;4145498;4145488;6480464 10384142;11438578;12600821;12651599;15293604;15466387;15993846;16453150;17517104;18316417;18684970;19715610;20337996;20628341 10493829;10861057;11241286;11352815;11390394;11792124;11818437;11981828;12193695;12407016;12477932;12485447;12642832;12715916;12851650;12949249;14718574;14747532;14962085;15067078;15113590;15187160;15210758;15489334;15714581;15813816;15944327;16343773;16344560;16583210;16614259;17008059;17703412;17967467;17979978;18047937;18178833;18208895;18224687;18266834;18271928;18287226;18435706;18515987;18547160;19175890;19244125;19258923;19298002;19371952;19756997;19942450;20002703;20237496;20348247;20503287;20525891;20625996;21129807;21327296;21823987;21988832;22125604;22322668;22975373;23106659;23180648;23265706;23268288;23340773;23383108;23782855;23898208;24124553;9151897;9312138;9381181;9430724;9691168;9743322;9826729;9933589 6367 O00626 ABBA01025270;AC004382;AC009052;AK311970;AMYH02032105;AMYH02032106;BC027952;CH471092;DA815965;DB154173;EF064764;NM_002990;U83171;U83239 AAB53372;AAB58360;AAC24306;AAH27952;ABK41947;ABM81848;ABM84237;ABM84998;ABM87624;ABW03327;BAG34909;EAW82918;NP_002981;O00626 Hs.534347 2217118;5015861;5020988;5024272;7185938 CCL22_3302;D10S16;D22S958;D2S1254 A-152E5.1;ABCD-1;DC/B-CK;MDC;MGC34554;SCYA22;STCP-1 C-C motif chemokine 22;CC chemokine STCP-1;MDC(1-69);OTTHUMP00000164658;macrophage-derived chemokine;small inducible cytokine A22;small inducible cytokine subfamily A (Cys-Cys), member 22;small-inducible cytokine A22;stimulated T cell chemotactic protein 1;stimulated T-cell chemotactic protein 1 APPROVED protein-coding ENSG00000102962 HGNC:10621 04263 602957 REVIEWED 1349737 CCL28 chemokine (C-C motif) ligand 28 This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for resting CD4 or CD8 T cells and eosinophils. The product of this gene binds to chemokine receptors CCR3 and CCR10. This chemokine may play a role in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] 5 5 5 p12 43272718 43303607 - 43376747 43412488 - 43357484 43412386 - 1580863;4892193;4892194;4892195;4892132;4892197;2298761;4892196;4890012;4892224;6480464 15681819;16290206;16840655;17954569;19050296;19393265;19829664;19847203;20161852 10781587;10975800;11295038;11825560;12477932;12538707;12671049;15489334;16433680;16581045;16785557;17207965;17703412;17912348;18240029;18308860;18426876;18577758;19003934;19199708;19258923;19659860;19913121;20237496;20503287;20628086;21447959;21753853;23509159;23934736;2834384 56477 A0N0Q3;D6RC73;Q9NRJ3 ABBA01024257;AC025457;AF110384;AF220210;AF266504;AK307307;AK312120;AMYH02011243;AMYH02011244;BC062668;BC069532;BX486632;CD671712;CH471119;CQ813003;CS642694;EF064761;HM067700;NM_001301873;NM_001301874;NM_001301875;NM_148672;XM_005248325;XR_241706;XR_241707;XR_241708;XR_427660 AAF87205;AAG16691;AAG43193;AAH62668;AAH69532;ABK41944;ADH95184;ADQ32935;BAG35056;CAG29882;CAO79483;EAW56057;EAW56058;EAW56059;EAW56060;NP_001288802;NP_001288803;NP_001288804;NP_683513;Q9NRJ3;XP_005248382 Hs.656904 CCK1;MEC;MGC71902;SCYA28 C-C motif chemokine 28;CC chemokine CCL28;OTTHUMP00000120046;OTTHUMP00000221629;chemokine (C-C motif) ligand 28 splice variant chi;mucosae-associated epithelial chemokine;small inducible cytokine A28;small inducible cytokine subfamily A (Cys-Cys), member 28;small-inducible cytokine A28 APPROVED protein-coding HGNC:17700 05577 605240 REVIEWED 1348813 CCL23 chemokine (C-C motif) ligand 23 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity on resting T lymphocytes and monocytes, lower activity on neutrophils and no activity on activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. In addition, the product of this gene is a potent agonist of the chemokine (C-C motif) receptor 1. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] 17 17 17 q12 31249651 31254560 - 34340096 34345005 - 36013056 36018008 - 1580863;6480464 10213461;10409433;10660125;10737895;11060285;12477932;15489334;15905581;15927850;16378600;17371990;17513790;17703412;18258606;18668547;19258923;19265684;19951712;20056178;20097574;20187767;20237496;20503287;20824279;21109018;21497884;21646793;21656154;21666788;22147696;22633458;23932459;24384427;8661057;9104803;9129202;9187369;9558365;9834116;9886417 6368 P55773 ABBA01011243;AC069363;AC244100;AF088219;BC093970;BC143310;BQ026575;CH471147;NG_029876;NM_005064;NM_145898;U58913;U67128;U85767;XR_429910;XR_430786 AAB51134;AAC63326;AAC63327;AAD00161;AAD10846;AAH93970;AAI43311;EAW80103;EAW80104;NP_005055;NP_665905;P55773 Hs.169191 2156585;5113928 D17S2152;RH93904 CK-BETA-8;CKb8;Ckb-8;Ckb-8-1;MIP-3;MIP3;MPIF-1;SCYA23;hmrp-2a C-C motif chemokine 23;C6 beta-chemokine;OTTHUMP00000163948;macrophage inflammatory protein 3;myeloid progenitor inhibitory factor 1;small inducible cytokine subfamily A (Cys-Cys), member 23;small-inducible cytokine A23 APPROVED protein-coding ENSG00000274736 HGNC:10622 03930 602494 REVIEWED 1345914 CCL3L1 chemokine (C-C motif) ligand 3-like 1 This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility. This record represents one of two copies that are present on the ALT_REF_LOCI_2 alternate haplotype of the GRCh38 human reference genome assembly. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] 17 17 17 q21.1 556 2444 + 34623842 34625730 - 250577 252465 - 1580863;6480464;6907045;7240710 10364178;10471782;10961862;11390394;11449371;11734558;12355456;12477932;1296815;15028295;15340161;15489334;15637236;15728180;15962231;1694014;17062725;17330138;17604289;17874089;17952079;17971457;18360285;18498240;18776933;18781860;18989363;19055602;19100722;19279442;1972563;19741716;19812560;19812561;19812562;19812563;19886839;19898927;20044164;20095832;20442634;20442635;20628649;20659124;21084992;21209899;21592988;21816135;21919959;22450355;22476153;22484760;22484763;2271120;22785612;22837109;23383108;23692808;24405814;7566098;8661057 6349 P16619 AA362164;ABBA01148689;AC131056;AV739733;BC027888;BC107710;BC146914;D90145;M24110;NG_023369;NM_021006;NR_111964;X52149 AAA35859;AAH27888;AAI07711;AAI46915;BAA14173;CAA36397;NP_066286;P16619 Hs.512683 2217120;5111072;5125530 CCL3_2642;RH68318;SGC35233 464.2;CCL3L3;D17S1718;G0S19-2;LD78;LD78BETA;MGC104178;MGC12815;MGC182017;MIP1AP;SCYA3L;SCYA3L1 C-C motif chemokine 3-like 1;G0/G1 switch regulatory protein 19-2;LD78-beta(1-70);OTTHUMP00000163947;PAT 464.2;small inducible cytokine A3-like 1;small-inducible cytokine A3-like 1;tonsillar lymphocyte LD78 beta protein APPROVED protein-coding HGNC:10628 03234 601395;609423 REVIEWED 1605181 CCL3L3 chemokine (C-C motif) ligand 3-like 3 This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility.[provided by RefSeq, Apr 2014] 17 17 q21.1 34522268 34524147 - 36194869 36196748 - 6480464;6907045 10364178;11734558;12355456;12477932;1296815;15028295;15067078;15728180;1694014;1972563;2271120;7566098;8661057;8889548 414062 P16619 AA380745;AC131056;AC233699;AC243829;AI302038;BC007783;BC063472;BC146919;BC147008;BC147013;BT006783;CF128666;NG_023325;NM_001001437 AAH07783;AAI46920;AAI47009;AAI47014;AAP35429;NP_001001437;P16619 Hs.454713 5111072;5125530 RH68318;SGC35233 464.2;CCL3L1;D17S1718;G0S19-2;LD78;LD78BETA;MGC12815;SCYA3L;SCYA3L1 C-C motif chemokine 3-like 1;G0/G1 switch regulatory protein 19-2;LD78-beta(1-70);PAT 464.2;chemokine (C-C motif) ligand 3-like, centromeric;small inducible cytokine A3-like 1;small-inducible cytokine A3-like