GENE_RGD_ID SYMBOL NAME GENE_DESC CHROMOSOME_CELERA CHROMOSOME_31 CHROMOSOME_34 FISH_BAND START_POS_CELERA STOP_POS_CELERA STRAND_CELERA START_POS_31 STOP_POS_31 STRAND_31 START_POS_34 STOP_POS_34 STRAND_34 CURATED_REF_RGD_ID CURATED_REF_PUBMED_ID UNCURATED_PUBMED_ID RATMAP_ID ENTREZ_GENE UNIPROT_ID RHDB_ID UNCURATED_REF_MEDLINE_ID GENBANK_NUCLEOTIDE TIGR_ID GENBANK_PROTEIN UNIGENE_ID GDB_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 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] 1580863 3458201,18706098,16335952,15489334,15461460,15221005,14760718,14702039,12477932,8889549,3610142,2591067,20116414 1 AC010642,AC012313,CH471135,AA484435,AB073611,AF414429,AI022193,AK055885,AK056201,AK289417,BC035719,BX325198,BX537419,CR603363,CR604603,CR609084,NM_130786,CR612720,CR614062,T80683,W25099 NP_570602,EAW72575,BAD38648,AAL07469,BAG51591,BAF82106,AAH35719,CAD97661,P04217,Q7Z3U3 Hs.529161,Hs.709582 A1B|ABG|DKFZp686F0970|GAB|HYST2477 alpha-1B-glycoprotein protein-coding 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. Alternative splicing occurs at this locus and three full-length transcript variants, encoding three distinct isoforms, have been described. Additional splicing has been observed but the full-length nature of these variants has not been determined. [provided by RefSeq] 1300239,1300341 11871661,10669759,12896982,12881431,10781591,16055734,15164054,15148397,14702039,12477932,11815617,11752456,11718896,11577082,11571303,11352648,11329013,11134005,11072063,10833526,19932086 1300239,1300341 29974 NM_138933,NM_138932,NM_014576,AL512366,AL589794,CH471083,AF209192,AF271789,AF271790,AJ272078,AJ272079,AK000324,AK291982,AK303801,BC022263,BC054873,BC130519,BC144194,BC144196,BG188383,NM_001198818,NM_001198819,NM_001198820 NP_620311,NP_620310,NP_055391,CAI14233,CAI14234,CAI14235,CAI14236,CAI15762,CAI15763,CAI15764,EAW54133,EAW54134,EAW54135,EAW54136,EAW54138,AAF34824,AAF76221,AAF76222,CAB94754,EAW54137,CAB94755,BAA91086,BAF84671,BAG64755,AAH54873,AAI30520,AAI44197,Q5T0W7,Q7Z2U9,Q9NQ94,NP_001185747,NP_001185748,NP_001185749 Hs.499643 ACF|ACF64|ACF65|APOBEC1CF|ASP|MGC163391|RP11-564C4.2 APOBEC-1 stimulating protein|APOBEC1 complementation factor|APOBEC1-stimulating protein|OTTHUMP00000019611|OTTHUMP00000019612|apo-B RNA editing protein|apobec-1 complementation factor (ACF) (ASP)|apobec-1 complementation factor, apobec-1 stimulating protein protein-coding 1606794 A2BP1 ataxin 2-binding protein 1 Ataxin-2 binding protein 1 has an RNP motif that is highly conserved among RNA-binding proteins. This protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the gene product of the SCA2 gene which causes familial neurodegenerative diseases. Ataxin-2 binding protein 1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been found but their full length nature has not been determined. [provided by RefSeq] 10814712,19508968,19414679,19308021,19043545,18978788,18846501,18794351,18573872,18519826,17503474,17101796,16713569,16537540,16362037,16260614,14702039,12477932,11471052,18951430,20600896,20724578,19546859,19567891,19688295,19875103,20153395,20379614 54715 NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892,NG_011881,AC005774,AC006075,AC006112,AC007012,AC007217,AC007222,AC007223,AC009135,AC022206,AC023829,AC027683,AC079410,AC125796,AC131390,AF109107,AF109120,CH471112,AB208826,AF094849,AF107203,AF229057,AF448859,AK001027,AK293951,AK299664,AL713700,BC026312,BC033885,BC113691,BC143816,CR621423,AF109106 NP_061193,NP_001135805,NP_001135806,NP_665898,NP_665899,NP_665900,AAL83407,AAL83408,AAL83409,EAW85216,EAW85217,EAW85218,EAW85219,EAW85220,BAD92063,AAL83405,AAF78291,AAL83406,AAL71904,AAP41925,BAA91472,BAH11633,BAH13094,CAD28499,AAI13692,AAI43817,Q59HD3,Q8TCM0,Q9NWB1 Hs.459842 A2BP1|FOX-1|FOX1|HRNBP1 ataxin 2-binding protein 1|ataxin-2-binding protein 1|fox-1 homolog A|hexaribonucleotide binding protein 1|hexaribonucleotide-binding protein 1 protein-coding 2299985 A2LD1 AIG2-like domain 1 16344560,14702039,12477932,20110353 87769 DA628207,NM_001195087,AL356966,NM_033110,AL136526,CH471085,AK091974,AK093228,AK095850,BC001077,BC004360 NP_001182016,NP_149101,CAI39558,EAX09037,BAG53143,AAH01077,AAH04360,Q9BVM4 Hs.350868 GGACT AIG2-like domain-containing protein 1|OTTHUMP00000018653|gamma-glutamylamine cyclotransferase|gamma-glutamylaminecyclotransferase protein-coding 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] 1549857,2298922,1598407,1302534,1300322,1300048,1549856,1598509,1331525,1598512,1598513,1300321,1358261,1580863 11435418,9714181,10880251,12538697,18029348,59727,14718574,19105203,19074141,18706476,18579803,18499670,18382889,18171086,18077315,17967834,17608619,17453620,17403113,17288987,17071617,16910174,16784755,16650578,16641085,16456795,16407218,16402284,16384981,16335952,16297527,16232083,16040006,15931081,15910735,15908432,15793779,15611997,15511627,15489334,15468911,15023809,14760718,14759632,14715656,14678766,14675603,14637088,14506912,12966032,12782964,12782337,12755687,12755614,12754519,12631277,12477932,7680268,7533769,7533162,7519849,6203908,6195065,6191979,6172288,6167263,6165619,6153632,3289986,2581245,2476070,2460294,2459995,2430963,2408344,1707161,1697852,1692292,1374237,1370808,1281457,89758,7690356,7524416,1724156,10681572,1702714,12394648,12221172,12194978,12175343,12123860,12062545,12059070,12042276,12015318,11987698,11916201,11910179,11901360,11823454,11811950,11498265,11496365,11484172,11455130,11436125,11290389,11281447,11231028,11166925,11162584,11121179,11100124,11099722,11058789,11036822,11023837,10731476,10714547,10652313,10373500,9865955,9831625,9724081,9344465,9166830,8583572,20156641,14687906,15950906,8662763,15226301,15231748,15862967,16169070,16289162,18191876,19639019,20048078,20207732,20381197,20401725,20493925,2466831,2467766,6698368,80233,9398211,9428387,19913121,20587546,20628086,20637261,20575108,20800603 1549857,2298922,1302534,1300322,1549856,1598509,1331525,1598512,1598513,1300321,1358261 2 NM_000014,NG_011717,AC007436,AF349032,AF349033,CH471116,X68728,X68729,Z11711,AB209614,AK307832,AK312482,AY591530,BC026246,BC040071,BX504041,BX647329,CR621613,CR622895,CR749334,M11313,M36501 NP_000005,AAK38109,AAK38110,EAW88590,CAA48670,CAA77774,BAD92851,AAT02228,AAH26246,AAH40071,CAH18188,AAA51551,AAA51552,P01023,Q9BQ22 Hs.212838 CPAMD5|DKFZp779B086|FWP007|S863-7 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5|alpha-2-M|alpha-2-macroglobulin protein-coding 1606453 A2ML1 alpha-2-macroglobulin-like 1 The alpha-macroglobulin (AM) superfamily of proteins contains both complement components and protease inhibitors, including A2M (MIM 103950) and A2ML1. AM proteins display a unique trap mechanism of inhibition, by which the AM inhibitor undergoes a major conformational change upon its cleavage by a protease, thus trapping the protease and blocking it from subsequent substrate binding (Galliano et al., 2006 [PubMed 16298998]).[supplied by OMIM] 16298998,19204726,18648652,17562024,16344560,14702039,12477932,10737800,20805888 144568 NM_144670,AC006513,AC006581,CH471116,AK057908,AK096448,AK122624,AK123591,AK123592,AK123601,AK290355,AK302555,AL832139,AL832750,AL833479,BC093840,BC112131,BF330285,BX647674,BX648231,DA436610,EL594621 NP_653271,EAW88602,EAW88603,EAW88605,EAW88606,EAW88607,BAB71612,BAC04793,BAC85494,BAC85653,BAC85654,BAG53918,BAF83044,BAH13740,AAH93840,AAI12132,A8K2U0,Q6ZWK7,AAI72370,EAW88604 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|alpha-2-macroglobulin-like protein 1 protein-coding 1350441 A2MP alpha-2-macroglobulin pseudogene 1299021 19105203,2478422 1299021 3 NG_001067,AC010175,M24415 A2MP pseudo 1606731 A3GALT2 alpha 1,3-galactosyltransferase 2 18630988 127550 AL513327,NG_012483 CAI13954 A3GALT2|IGBS3S pseudo 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] 1300231,1580863 10854428,10591208,16712791,10747952,10748143,19470247,19139081,18757779,18067504,16212661,15489334,15142124,12888565,12477932,11896312,11782470,10993874,20732996 1300231 53947 NG_007495,AB041418,AF513323,AF513326,AF513327,AL049757,AY166861,AY166862,AY166863,AY358074,AY496228,AY496229,AY496230,AY941797,CH471138,Z82176,AB037883,AJ245581,AK074388,AK312927,NM_017436,BC017068,BC055286,CB150578,CR604491 NP_059132,BAA94503,AAP47164,AAP47167,AAP47168,AAO39149,AAO39150,AAO39151,AAQ68076,AAS77214,AAS77215,AAS77216,AAX20109,EAW73274,CAI18757,BAA95915,CAB93532,BAG35771,AAH17068,AAH55286,Q540I5,Q540I6,Q5D079,Q6RJV9,Q6RJW0,Q6RJW1,Q7Z2I1,Q7Z7C6,Q9NPC4,ABM82545,ABM85737 Hs.105956 A14GALT|A4GALT1|Gb3S|P(k)|P1|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 protein-coding 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] 1580863,2325199 11304796,9373149,8125298,10430883,18029348,16441422,15489334,12594234,12477932,19751437,20379614 2325199 51146 NM_016161,AC023049,CH471052,AF141315,AK225668,BC119639,BC119640 NP_057245,EAW79084,AAD48406,AAI19640,AAI19641,Q9UNA3 Hs.278960 MGC149493|alpha4GnT alpha-1,4-N-acetylglucosaminyltransferase protein-coding 1342487 AA atrophia areata, peripapillary chorioretinal degeneration 1298614 1298614 8 2290197 AAA1 asthma-associated alternatively spliced gene 1 15073379,12477932,20395963 404744 NR_015356,AC004788,AC005173,AC005174,AC005490,AC005491,AC005492,AC005493,AC005502,AC005582,AC005680,AC005685,AC005688,AC005852,AC005853,AC005862,CH471073,AY312364,AY312365,AY312366,AY312367,AY312368,AY312369,AY312370,AY312371,AY312372,AY312373,AY321515,AY321516,BC031961,BC130477,BX649082,U85653,NG_021366,NR_033664,NR_033665 EAW94027,EAW94028,EAW94029,EAW94030,EAW94031,EAW94032,EAW94033,AAQ85133,AAQ85134,AAQ85135,AAQ85136,AAQ85137,AAQ85138,AAQ85139,AAQ85140,AAQ85141,AAQ87609,AAQ87610,Q6W4W4 Hs.487951 miscrna 1318625 AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) 1580863,1549858,1598514 11701718,11159947,11062474,9373149,8968764,8125298,12730363,19322026,19172511,19011813,18175081,16938764,16609705,16543750,16098009,16022285,15843079,15680696,15666842,15489334,15217518,15022193,14702039,12752575,12477932,12228227,11914417,11815731,20447142,10601273,19703420,19782045,19855093 1549858,1598514 8086 AC073611,AJ289841,AJ297977,CH471054,AF226048,AJ289857,AK000833,AK094302,AK222509,AK293342,AL110160,NM_015665,AY237818,BC000659,BC018836,BT006912,CR590678,CR591048,CR593907,CR595976,CR597176,CR597994,CR601072,CR601632,CR616332,CR619164,DC393722,NG_016775,NM_001173466 NP_056480,CAC19038,CAC17465,EAW96692,EAW96693,AAF86948,CAC19017,BAA91394,BAD96229,BAG56858,CAB53665,AAP69911,AAH00659,AAP35558,Q53HS1,Q5JB47,Q9NRG9,ABM84232,ABM84790,NP_001166937 Hs.369144 AAA|AAASb|ADRACALA|ADRACALIN|ALADIN|DKFZp586G1624|GL003 Allgrove, triple-A|achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)|aladin protein-coding 1347562 AACP arylamide acetylase pseudogene 1298616 9284941,2340091 1298616 11 NG_004857,AC025062,AC120051,X17060 NATP pseudo 732340 AACS acetoacetyl-CoA synthetase 2301022,1300048,2326093,2326191 18660489,17762044,14702039,12623130,12477932,9671465,4073493,20102333 2301022,2326093,2326191 65985 AC122688,CH471054,AB054121,AK022451,AK022740,AK024036,AK024760,AK123245,AK304176,AK308779,AL833047,AY091468,BC004997,BC036694,BC040490,BC040574,NM_023928,BC041000,BC051862,CR603159,CR613420 NP_076417,EAW98473,EAW98474,EAW98475,BAD22560,BAB14040,BAB14216,BAB14793,BAB14991,BAG65058,CAH56309,AAM44124,AAH04997,AAH36694,AAH40490,AAH40574,AAH41000,AAH51862,Q49AJ4,Q86V21,Q9H7A6,Q9H9K9 Hs.656073 ACSF1|FLJ12389|FLJ41251|SUR-5 acetoacetate-CoA ligase|acetoacetyl-CoA synthetase|acyl-CoA synthetase family member 1|homolog of C. elegans supressor of ras 5 (sur-5)|protein sur-5 homolog protein-coding 1604681 AACSL acetoacetyl-CoA synthetase-like 12477932,10682835 729522 NR_024035,AC113348,AC126915,AA954365,BC024222,BC140764,BC144474,DR008193 AAI40765 Hs.382790 AACSL pseudo 737554 AADAC arylacetamide deacetylase (esterase) 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] 1580863 9665742,11481320,18029348,10318829,15152005,8063807,19343046,15489334,12721789,12477932,9299245,2043131,20694011,17936933,19339378,20379614 13 NM_001086,AC068647,CH471052,AK290628,AV705031,BC020706,BC032309,CR624107,L32179 NP_001077,EAW78791,EAW78792,BAF83317,AAH32309,AAA35551,P22760 Hs.506908 CES5A1|DAC OTTHUMP00000216827|arylacetamide deacetylase protein-coding 1606396 AADACL2 arylacetamide deacetylase-like 2 17562024,12477932,17207965 344752 NM_207365,AC069067,CH471052,BC065724,BX118873,BX647585,CU449274 NP_997248,EAW78796,EAW78797,AAH65724,CAI46075,Q6P093,ADQ32028 Hs.144710 MGC72001 arylacetamide deacetylase-like 2 protein-coding 1602438 AADACL3 arylacetamide deacetylase-like 3 16710414 126767 NM_001103170,NM_001103169,AL513016,AK127828 NP_001096640,NP_001096639,CAH74175,CAH74176,BAG54581,Q5VUY0 Hs.464705 RP11-474O21.3 arylacetamide deacetylase-like 3 protein-coding 1603850 AADACL4 arylacetamide deacetylase-like 4 16710414 343066 NM_001013630,AL513016,CH471130 NP_001013652,CAH74173,EAW71744,Q5VUY2 Hs.209954 arylacetamide deacetylase-like 4 protein-coding 1606004 AADAT aminoadipate aminotransferase This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Two alternative transcripts encoding the same isoform have been identified, however, additional alternative transcripts and isoforms may exist. [provided by RefSeq] 2290313,2290312 17207965,20877624,12126930,18056996,18056995,15489334,14702039,12477932,10441733,8087205,1798692,18620547 2290313,2290312 51166 NM_182662,NM_016228,AC084866,CH471056,AF481738,AI190763,AK055952,AK314729,BC031068 ADQ32439,NP_872603,NP_057312,AAY41030,EAX04770,EAX04771,EAX04772,AAM09683,BAG51596,BAG37271,AAH31068,Q4W5N8,Q8N5Z0 Hs.529735 KAT2|KATII 2-aminoadipate aminotransferase|2-aminoadipate transaminase|KAT/AadAT|L kynurenine/alpha aminoadipate aminotransferase|OTTHUMP00000219261|OTTHUMP00000219264|alpha-aminoadipate aminotransferase|kynurenine aminotransferase II|kynurenine--oxoglutarate aminotransferase II|kynurenine--oxoglutarate transaminase II|kynurenine/alpha-aminoadipate aminotransferase, mitochondrial protein-coding 1605954 AAGAB alpha- and gamma-adaptin binding protein 11256614,17081983,16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863,10477754,16169070,20641033 79719 AC012568,AC110292,CH471082,AK021568,AK294402,AL136715,AL832256,BC001975,BC035852,BC047026,BC058886,BX648272,CR533540,CR614587,CR620129,DA688370,NM_024666 NP_078942,EAW77792,EAW77793,BAB13845,BAG57655,CAB66649,CAI46180,AAH01975,AAH47026,AAH58886,CAH10544,CAG38571,Q5JPJ4,Q6AWA0,Q6PD74,CAL37898,CAL38289 Hs.254642 DKFZp667D2317|DKFZp686G08119|FLJ11506|p34 alpha- and gamma-adaptin-binding protein p34 protein-coding 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] 17494869,17178891,16964243,16903783,16782842,16344560,16083285,15815621,15489334,15302935,15292237,14702039,14617351,12952931,12477932,12471243,11877461,11877457,10470851,18029348,19772629,20379614 22848 AC079121,AC092431,AC114772,AC136007,CH471053,AB028971,AF090100,AF090101,AK055622,AK056043,AK074292,AK098797,AK124872,AK127187,AK310951,AW451954,AW969393,BC002695,BC073953,BC090950,BC104842,BC111965,BC132937,BC132939,BC143710,BX640963,BX641060,CA436375,CR599899,CR624904,DA121999,DB285703,NM_014911 NP_055726,AAY14931,AAX88861,EAW99847,EAW99848,BAA83000,BAC86877,AAH02695,AAI04843,AAI11966,AAI43711,Q2M2I8,Q9BUD9 Hs.468878 DKFZp686F03202|DKFZp686K16132|FLJ23712|FLJ25931|FLJ31060|FLJ42882|FLJ45252|KIAA1048|MGC138170|MGC164568|MGC164570 AP2-associated protein kinase 1|adaptor-associated kinase 1 protein-coding 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] 7743515,18634987,16344560,15489334,15146197,12477932,11969303,10329261,9373149,8660919,8125298,16169070,19535145,20237496 14 NM_001087,AC021016,CH471063,AB209790,AK131047,AK225078,BC008809,BC014122,BC020244,BC039866,BG534787,CN277005,CR456755,CR590201,CR593855,CR594232,CR595051,CR597015,CR597851,CR599512,CR600072,CR602732,CR603124,CR604187,CR604549,CR608492,CR611211,CR617077,CR618853,CR621167,CR622304,CR623262,CR626270,DA465288,M95627 NP_001078,EAW70599,EAW70600,EAW70601,BAD93027,AAH08809,AAH20244,AAH39866,CAG33036,AAA68889,Q13685,Q59EM1 Hs.83347 OTTHUMP00000207409|OTTHUMP00000207410|angio-associated migratory cell protein protein-coding 736736 AANAT arylalkylamine N-acetyltransferase Arylalkylamine N-acetyltransferase belongs to the superfamily of acetyltransferases. 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 seasonal reproduction, modulates the function of the circadian clock in the suprachiasmatic nucleus, and influences activity and sleep. This enzyme is rapidly inactivated when animals are exposed to light at night. This protein is 80% identical to sheep and rat AA-NAT. Arylalkylamine N-acetyltransferase may contribute a multifactorial genetic diseases such as altered behavior in sleep/wake cycle. [provided by RefSeq] 1580863,1300048,2301030,2301037,2302130,1300232 19343046,8661026,19184136,19086053,18794762,18569588,17503170,17164235,15489334,15332344,14728993,12736803,12552951,12477932,12039872,11934439,11427721,11393533,11336675,11313340,9238858,7502081,2181999,8024705,19839995,20377855,20459461,8889549,20586889,17207965 2301030,2301037,2302130,1300232 15 NM_001088,AB023793,AB023794,AB023795,AB023796,AB023797,AC015802,AF360979,CH471099,U40391,BC069434,BC092430,BC126332,BC126334,U40347,AA084486,AY055827,BC143989,NG_015976,NM_001166579 NP_001079,BAB20312,BAB20313,BAB20314,BAB20315,BAB20316,AAK49981,EAW89400,AAC50555,AAH69434,AAH92430,AAI26333,AAI26335,AAC50554,Q16613,Q9GZS4,Q9H3S9,Q9H3T0,Q9H3T1,NP_001160051,ADQ32919 Hs.431417 AA-NAT|SNAT arylalkylamine N-acetyltransferase|arylalkylamine n - acetyltransferase|serotonin N-acetyltransferase|serotonin acetylase protein-coding 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. 1298623,1580863 7654687,15489334,12477932,11829477,11532948,10508479,9373149,8595897,8125298,8076819,2915692,7761427,17081983,20045102 1298623 16 NM_001605,AC009060,AC012184,AC093491,CH471241,AK222824,AK225116,AK307782,BC011451,BG764123,BU178772,D32050,AK299098,NG_023191 NP_001596,EAW51838,EAW51839,EAW51840,BAD96544,AAH11451,BAA06808,P49588,ABM82560,ABM85750,BAG61157 Hs.315137 CMT2N alaRS|alanine tRNA ligase 1, cytoplasmic|alanine--tRNA ligase|alanyl-tRNA synthetase, cytoplasmic|renal carcinoma antigen NY-REN-42 protein-coding 1321623 AARS2 alanyl-tRNA synthetase 2, mitochondrial (putative) 15779907,15489334,14574404,12477932,12421765,10737800,10574462,20877624 57505 AL353588,CH471081,AB033096,BC013593,BC021131,BC033169,BC041026,BC128175,BC131728,BF768723,CR612653,NM_020745 NP_065796,CAI40747,EAX04268,BAA86584,AAH13593,AAH33169,AAI28176,AAI31729,Q5JTZ9 Hs.158381 AARSL|KIAA1270|MT-ALARS|MTALARS|bA444E17.1 alaRS|alanine tRNA ligase 2, mitochondrial (putative)|alanine--tRNA ligase|alanyl-tRNA synthetase like|alanyl-tRNA synthetase, mitochondrial|alanyl-tRNA synthetase-like|alanyl-trna synthetase like|probable alanyl-tRNA synthetase, mitochondrial protein-coding 1606776 AARSD1 alanyl-tRNA synthetase domain containing 1 12477932,8889549,7545954,16344560,15489334,14702039 80755 NM_025267,NM_001136042,NM_001142653,NM_001142654,AC055866,CH471152,AA180872,AF039235,AI312767,AK056965,AK093402,AK094084,AK295447,AK309477,BC004172,BC019324,BU631064,BX406721,CR608238,CR613084,CR617160,CR619011,CR621048,DA900052,DB330888 NP_079543,NP_001129514,NP_001136125,NP_001136126,EAW60903,EAW60904,EAW60905,EAW60906,BAG52811,BAG58385,AAH04172,AAH19324,Q9BTE6,ACE87168,ACE86487 Hs.317403 MGC2744 OTTHUMP00000204017|OTTHUMP00000204019|OTTHUMP00000204020|alanyl-tRNA editing protein Aarsd1|alanyl-tRNA synthetase domain-containing protein 1 protein-coding 1606160 AASDH aminoadipate-semialdehyde dehydrogenase 17762044,15865210,15198809,12712191,12477932,11230166 132949 NM_181806,AC068620,CH471057,AF161436,AF516672,AY314787,AY422212,BC015096,BC071815,BC141824,BC142709,BX648853,BX640635,AK294332,AK303733,AK304309,AK316296 NP_861522,EAX05484,EAX05485,EAX05486,AAF28996,AAP76519,AAQ83120,AAR31184,AAH71815,AAI41825,AAI42710,CAH56130,Q4L235,CAH56482,BAG57604,BAG64707,BAG65162,BAH14667 Hs.104347 ACSF4|LYS2|NRPS1098|NRPS998 2-aminoadipic 6-semialdehyde dehydrogenase|OTTHUMP00000219036|OTTHUMP00000219037|OTTHUMP00000219039|acyl-CoA synthetase family member 4|non-ribosomal peptide synthetase 1098|non-ribosomal peptide synthetase 998 protein-coding 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. 1580863 11286508,11042152,10931946,10810093,12477932,12815048,16189514,15489334,18022563,19615732,19933275 60496 NM_015423,AP001001,CH471065,AB072896,AF136978,AF151057,AF151838,AF201943,AF302110,AK312529,AL050073,BC015470,BC016728,BX537665,CR597963,AK293362 NP_056238,EAW67077,EAW67078,AAG49439,AAF36143,AAD34075,AAF86879,AAG30872,BAG35428,CAB43257,AAH15470,AAH16728,Q9NRN7,ABM82268,ABM85450,BAG56878 Hs.524009 AASD-PPT|CGI-80|DKFZp566E2346|LYS2|LYS5 4'-phosphopantetheinyl transferase|L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase|LYS5 ortholog|alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase protein-coding 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] 1300048 10775527,10567240,16344560,14702039,12853948,12690205,9847074,9373149,8889548,8125298,18029348,20877624,12477932 10157 AC006020,CH236947,CH471070,AF229180,AJ007714,AK023446,AK225898,AK294326,BC144246,BC144247,BM669241,DA995180,NG_008140,NM_005763 AAF03526,EAL24343,EAW83564,EAW83565,AAF44328,CAA07619,BAG51195,BAG57598,Q9UDR5,AAI56457,AAI72503,NP_005754 Hs.156738 LKR/SDH|LKRSDH|LORSDH OTTHUMP00000211400|OTTHUMP00000211402|alpha-aminoadipate semialdehyde synthase|alpha-aminoadipic semialdehyde synthase, mitochondrial|aminoadipic semialdehyde synthase|lysine-2-oxoglutarate reductase|lysine-ketoglutarate reductase /saccharopine dehydrogenase protein-coding 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] 1580863 20532202,15231747,17157788,10580117,18029348,12429849,18341201,17488777,17468107,17081983,17006618,16565220,16189514,15635413,15489334,15207272,14761944,14702039,14697667,14627703,12847090,12477932,12450794,11790298,11027528,10783144,20708154,12376548,12787561,18049476,19834535,20025740 26574 AK026173,AK057229,BC000591,CR616929,NM_012138,AC003103,AC023315,CH471199,AF083208,AF161395,AJ249940 BAG51888,AAH00591,Q9NY61,ABM83023,ABM86216,NP_036270,EAW57575,AAD52016,AAF28955,CAB57451 Hs.195740 CHE-1|CHE1|DED apoptosis-antagonizing transcription factor|protein AATF|rb-binding protein Che-1 protein-coding 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. [provided by RefSeq] 1580863 14521924,18029348,17651901,16969489,15489334,14702039,12670708,12477932,12168954,11314040,11314039,10837911,10083745,9734811,14563843 9625 XM_002345084,XM_003119693,XM_003120900,XM_003120903,XR_111752,XR_115154,XR_115155,NM_001080395,AC115099,AB014541,AK094931,AK131395,AK131529,AK309099,BC047378,BI256809 XP_002345125,XP_003119741,XP_003120948,XP_003120951,NP_001073864,BAA31616,BAD18544,BAD18667,AAH47378,Q6ZMQ8 Hs.514575 AATYK|AATYK1|KIAA0641|LMR1|LMTK1|p35BP CDK5-binding protein|OTTHUMP00000163590|brain apoptosis-associated tyrosine kinase|lemur tyrosine kinase 1|p35-binding protein|serine/threonine-protein kinase LMTK1 protein-coding 1344732 AAVS1 adeno-associated virus integration site 1 1334463 17 S51329 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] 1300048,1580863,1598516,1598518,1598520,1598522,1598524,1598531 15528998,17474147,15650327,11918424,18334916,16344560,15830322,15642443,15489334,14702039,12694932,12477932,10951220,10407778,7851425,7721088,7305280,6470007,6148708,11181995,11256614,19598235,20052547,20379614,20659789,20677014,20877624 1598516,1598518,1598520,1598522,1598524,1598531 18 NM_020686,NM_000663,NM_001127448,NG_008432,AC007224,AC012173,CH471112,AA806200,AF237813,AK096146,AK290501,AK293983,AK310771,AL137454,BC008990,BC013965,BC015628,BC031413,BC075851,BG749438,BG818982,BI459888,BI602086,BX537362,CR593324,CR599622,DA228305,DA300126,DA531116,DB443567,DB479117,DC335224,L32961,S75578,U80226,AK054834 NP_065737,NP_000654,NP_001120920,EAW85207,EAW85208,AAG09758,BAF83190,BAH11640,AAH15628,AAH31413,AAA74449,AAD14176,AAB38510,P80404,Q9HBH6,ABM83995,ABM87322,EAW85209 Hs.336768 FLJ17813|FLJ30272|GABA-AT|GABAT|NPD009 (S)-3-amino-2-methylpropionate transaminase|4-aminobutyrate aminotransferase, mitochondrial|4-aminobutyrate transaminase|GABA aminotransferase|GABA transaminase|GABA transferase|gamma-amino-N-butyrate transaminase|hCG1984265 protein-coding 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] 1298630,1331525,1600654,1580863,1298571,1600951,1598532,1598533,1598534,1598547,1300323,1601092,1300233,1300234,2312576 19553242,20395597,17076584,12505994,11864601,20338636,20413849,20553836,20064972,20215580,20101560,20378541,20800056,12235128,7766993,15140889,15135251,15102890,15066991,15033469,15024730,14993242,14986172,14967823,14967052,14962947,14767869,14754908,14734645,14702039,14701850,14701812,14681836,14668333,14660648,14644402,14576201,14570867,14560020,14559902,12966036,12952980,12928428,12870173,12869555,12860256,12813037,12804586,12763760,12730295,12709788,12706378,12700893,12624133,12615681,12600975,12600718,12576507,12562845,12551894,12535741,12511593,12509412,12477932,15158913,12426219,12359250,16443932,12084722,16702602,15469992,10431236,11162594,14747463,17305370,11855831,15163665,18490524,14701824,10525055,19606474,19556522,19538231,19528336,19489872,19474452,19420105,19343046,19341173,19336370,19304576,19304534,19295162,19287193,19285487,19268428,19261092,19258317,19201688,19170766,19168441,19151332,19148283,19133158,19131637,19099922,19070858,19060911,19060906,19059534,19056482,19019193,18996286,18955690,18927546,18927311,18841006,18820007,18805791,18803945,18789440,18782758,18782226,18776170,18767813,18762171,18711208,18706283,18676680,18660489,18640393,18621447,18617649,18583707,18566305,18523221,18484747,18468402,18385134,18354102,18343215,18287097,18252847,18239666,18220685,18219093,18218626,18215356,18199144,18193044,18193043,18164264,18097620,18057374,18003760,17992631,17991739,17951323,17923263,17855807,17700364,17690481,17689273,17656736,17608096,17556657,17553166,17550732,17521614,17510949,17510946,17510466,17481640,17430597,17412755,17407076,17383594,17372331,17368464,17335784,17324514,17287470,17268197,17241464,17196163,17135600,17135302,17121837,17113061,17082211,17070530,17020879,17001213,16928680,16902247,16901265,16879828,16873719,16870193,16855366,16825673,16806540,16806233,16770077,16763159,16730733,16725228,16709568,16596262,16542392,16505586,16500904,16497665,16456089,16446539,16429166,16418537,16410457,16343503,16313984,16254209,16235041,16226177,16207713,16192292,16192291,16192290,16192289,16192288,16192287,16192286,16192285,16192284,16192283,16192282,16192281,16192279,16192278,16192277,16192276,16192275,16192274,16192273,16192272,16192271,16192270,16192269,16166555,16157450,16126721,16120575,16118212,16086925,16080812,16055210,16030523,16009332,15983222,15961705,15958302,15952113,15951431,15935359,15930518,15905177,15890646,15851589,15829498,15817453,15774904,15721294,15696473,15657615,15649702,15574409,15528481,15528463,15520867,15500734,15492319,15358760,15358117,15340333,15297675,15292375,15288432,15280376,15262183,15218032,15201080,12226704,12204794,12196520,12176027,12151852,12111371,12093886,12054535,12032171,12009425,11950847,11940086,11929608,11893753,11861672,11809185,11785958,11752403,11719471,11700048,11476965,11476961,11352567,11349008,11279031,11257261,11257260,11238261,11086027,10970803,10938021,10884428,10799318,10706591,10535983,10533863,10431238,10431237,10092505,9731541,9006906,8088782,20103810,20702810,14722086,17205124,17604270,17710129,19170196,19201410,19202195,19446537,19530967,19556721,19578796,19589783,19596329,19625176,19656776,19673941,19692168,19692220,19721717,19743957,19765707,19767535,19773416,19783654,19828131,19837407,19878569,19902402,19913121,19948975,20031551,20067955,20079340,20089670,20093111,20160193,20167577,20170916,20173014,20185793,20227257,20303467,20346718,20348106,20379614,20385819,20385826,20394740,20418488,20430392,20864672,20057170,20571217,20571754,20595220,20628086,20634891,20679960,20797885,21116278,20188211,20691829,20714348,20835684,20855565,20972250,20427018,20485864,20951680 1298630,1331525,1600654,1298571,1600951,1598532,1598533,1598534,1598547,1300323,1601092,1300233,1300234,2312576 19 NG_007981,AF165286,AF165306,AF165309,AF165310,AF258626,AF275948,AF287262,AJ252277,AL353685,AL359182,AL359846,CH471105,AB037924,AB055982,AB208839,AB445477,AF165281,AF258627,AF285167,AJ012376,AK024328,AK027864,BC034824,BC146856,NM_005502,BU753834,BX955241 NP_005493,AAD49851,AAD49852,AAD49854,AAD49853,AAF69516,AAF86276,AAK43526,CAC21428,CAH72442,CAH72443,CAH72444,CAH73579,EAW58992,EAW58993,EAW58994,BAB07875,BAB63210,BAD92076,BAH10664,AAD49849,AAF69513,AAF98175,CAA10005,AAI46857,O95477,Q59HC0,Q9H002,Q9NP93,Q9NS76 Hs.728215 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|cholesterol efflux regulatory protein|membrane-bound protein-coding 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] 1580863 16094384,15489334,12821155,12477932,11435397,8894702 10349 NM_080282,AC005495,AY247105,CH471099,AK298508,AL832004,AY028900,AY247065,BC031026,BC051320,BC136460,BC144124,C16161,AK310858 NP_525021,AAO72160,EAW89077,EAW89078,BAG60714,CAD89903,AAK30025,AAO72161,AAH31026,AAH51320,Q8WWZ4,Q9P162,AAI66667 Hs.25377 EST698739 ATP-binding cassette A10|ATP-binding cassette sub-family A member 10 protein-coding 1346566 ABCA11P ATP-binding cassette, sub-family A (ABC1), member 11 (pseudogene) 16344560,14702039,12477932 79963 NR_002451,AC092574,CH471131,AK024359,BC060316,BC098116,BC098259,BC098291,BC099730,BC105084,BC112069,DA501191,AK303674 AAY41037,EAW82667,BAB14895,Q4W5N1,BAG64671 Hs.428360 ABCA11|EST1133530|FLJ14297|FLJ57767|MGC120309|MGC120310|MGC120312|MGC132744|MGC138274 atp-binding cassette, sub-family a (abc1), member 11 pseudo 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] 1598548 17927575,17611579,17591952,17508018,16902423,16007253,15980630,15756637,14702039,11435397,10094194,8894702,8845852,12697999,12915478,19179616,17986308,12477932,19262603,19429679,20379614 1598548 26154 NM_173076,NM_015657,NG_007074,AC072062,AC114780,CH471063,AF418105,AK096597,AK123578,AL080207,AY033486,AY219711,BC144073,CR609974 NP_775099,NP_056472,AAY24276,AAY24230,EAW70520,EAW70521,EAW70522,AAN40735,BAG53915,CAB45776,AAK54355,AAP21093,Q86UK0,AAI56328 Hs.134585 DKFZp434G232|FLJ41584|ICR2B|LI2 ATP-binding cassette sub-family A member 12|ATP-binding cassette transporter 12 protein-coding 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. 19058789,14702039,12697998,12477932,10737800,19944402,20379614 154664 NM_152701,NG_012385,AC073424,AC073927,AC091770,AC095039,AC232300,AC232312,CH236955,CH471128,FJ770081,AF501281,AK091195,AK091270,AK126220,AK128516,AK128570,AK131360,AY204751,BC062666,BX647560,CV361876 NP_689914,EAW60990,EAW60991,EAW60992,AAO59914,BAC03623,BAC86492,BAC87475,AAP13576,Q5HYK4,Q6ZR43,Q86UQ4,CAI46091 Hs.226568 DKFZp313D2411|FLJ16398|FLJ33876|FLJ33951 ATP binding cassette transporter A13|ATP-binding cassette sub-family A member 13 protein-coding 2298742 ABCA17P ATP-binding cassette, sub-family A (ABC1), member 17 (pseudogene) 16968533,14702039,18405356,20210993 650655 NR_003574,AC106820,AK095200,BC042853,DQ266102,DQ660314 Hs.376281 ABCA17|FLJ37881 pseudo 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] 1298630,1580863 16752360,16344560,15850583,15649702,15491607,15155565,15093135,12560508,12477932,12421765,12107413,10970803,10639163,10470851,8088782,1538749,15999530,7766993,12363033,15238223,11178988,11309290,19343046,18336955,17081983,20167577,19913121,20628086,15203218,21072184 1298630 20 NM_212533,NM_001606,NG_011789,AF327658,AF327659,AF327660,AF327661,AF327662,AF327663,AF327664,AF327665,AF327666,AF327667,AF327668,AF327669,AF327670,AF327671,AF327672,AF327673,AF327674,AF327676,AF327677,AF327678,AF327679,AF327680,AF327681,AF327682,AF327683,AF327684,AF327685,AF327686,AF327687,AF327688,AF327689,AF327690,AF327691,AF327692,AF327693,AF327694,AF327695,AF327696,AF327697,AF327675,AF327698,AF327699,AF327700,AF327701,AF327702,AF327703,AF327704,AF327705,AL807752,CH471090,AB028985,AB177854,AF178941,AF327657,AK295489,AK308738,AL162060,AL525193,AL833967,BC008755,BC029282,BC064542,BC090860,BC109244,BC144588,BC144589,BE273611,BF516223,BF983101,BI195329,BM314339,BM474929,BM921242,BM921499,CD612070,CD676110,DB168116,U18235,U18236 NP_997698,NP_001597,AAK14335,CAI12765,CAI12766,CAI12767,CAI12768,CAI12769,CAI12770,EAW88331,EAW88332,EAW88333,BAA83014,BAD66832,AAG09372,AAK14334,BAG58411,CAB82398,AAH08755,AAH64542,AAI09245,AAA84436,AAA84437,Q08EJ9,Q13038,Q13039,Q5SPY4,Q5SPZ4,Q5SPZ6,Q6P2G5,Q96HC2,Q9BZC7,Q9HC28,Q9UPU0,AAI72448 Hs.421202 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|OTTHUMP00000022649 protein-coding 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] 1549859,1580863 20304423,9027511,8706931,15531465,11718719,19343046,19252731,18603241,18463677,18317237,18246475,18024538,17660803,17597647,17574245,17429902,16968533,16959783,16857811,16415354,16344560,15976379,15465012,15044640,12477932,11940594,19220077,19861431,19902402,20371530,20863830,20656946 1549859 21 NM_001089,NG_011790,AC005212,AC007162,AC009065,AC098805,AC106820,CH471112,DQ073080,AB070929,AB210044,AK310864,BC020724,BC035752,BC062779,BC140895,BC146866,BC151840,BP397501,DA109409,U78735,X97187 NP_001080,EAW85515,AAY57325,BAB86781,BAE06126,AAH20724,AAH62779,AAI40896,AAI46867,AAI51841,AAC50967,Q4LE27,Q6P5P9,Q99758,CAA65825 Hs.26630 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 protein-coding 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] 1580863,1598551,1598552 9054934,9202155,19430638,19365591,9703434,9666097,9503029,9490294,9466990,9425888,9295268,9288113,9288089,9070931,8894702,8889548,20661590,20696155,20404325,20647261,20711710,19365039,19352439,19343046,19074458,19056738,19028736,19015224,18977788,18854780,18649358,18523590,18506364,18334942,18285826,18214793,18024811,17997789,17982420,17932850,17724221,17325136,17286855,16917483,16681420,16604398,16546111,16533065,16303926,15947798,15494742,15375613,15223829,15017103,12888572,12824224,12796258,12754711,12592048,12515255,12442277,12202497,12111378,11973624,11919200,11726554,11594993,11527935,11444963,11385708,11384574,11379881,11346402,11328725,11320094,11017087,10958763,10958761,10880298,10767284,10746567,10711710,10634594,10612508,10466724,10206579,10090887,10075733,9973280,9781034,20335603,12673275,19217903,19578016,19948975,19959634,20029649,20128570,20379614,20436469,19913121,20591486,20628086,20801516 1598551,1598552 24 NM_000350,NG_009073,AC093579,AC105278,AF533020,CH471097,Y15635,AB210040,AF000148,AF001945,AK295818,AK296896,AK301733,AK301764,AK310492,AL712362,BM686882,CR627391,DQ426859,U66691,U88667 NP_000341,AAP33155,EAW73056,EAW73057,EAW73058,CAA75729,BAE06122,AAC23915,AAC05632,BAG58635,BAH12450,BAG63198,BAG63224,CAH10486,ABD90529,AAC51144,P78363,Q0QD48,Q6AI28,Q86V62,AAI72262,AAI72565 Hs.416707 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|RIM ABC transporter|RIM protein|photoreceptor rim protein|retina-specific ABC transporter|retinal-specific ATP-binding cassette transporter|stargardt disease protein protein-coding 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] 1549860,1580863 20487690,19343046,18676680,17541169,17289887,16344560,14702039,12504089,12477932,11572484,11435397,8894702,15870284,19170196,19625176,19692168 1549860 23461 NM_018672,AC005495,AC115085,CH471099,AB067475,AJ275973,AJ512612,AK056533,AK058170,AK094416,AK096664,AK122803,AK292592,AY028897,BC029426,BC054480,BC070126,BC146819,BF448717,BX640746,BX647447,BX648540,DB096625,NM_172232 Q6N017,Q8WWZ7,AAI56257,NP_758424,NP_061142,EAW89080,EAW89081,EAW89082,EAW89083,BAB67781,CAB93535,CAD54757,BAB71208,BAB71700,BAF85281,AAK30022,AAH29426,CAE45856,Q05C38 Hs.421474 ABC13|DKFZp451F117|DKFZp779N2435|EST90625|FLJ16381 ATP-binding cassette A5|ATP-binding cassette sub-family A member 5 protein-coding 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] 1580863 19170196,19625176,19692168,20379614,11435397,10639163,8894702,19343046,18676680,15489334,14702039,12477932,11478798 23460 NM_080284,AC005495,AC005922,AF373328,AF373290,AK097296,AK125487,AK308431,AY028898,BC029852,BC070125,BC125231,BC125232,CR593055,U66680 NP_525023,AAM77558,AAM77557,BAC04994,BAG54204,AAK30023,AAH70125,AAI25232,AAI25233,Q8N139,AAI66682 Hs.709514 EST155051|FLJ43498 ABC transporter ABCA6|ATP-binding cassette A6|ATP-binding cassette sub-family A member 6 protein-coding 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] 10873640,19343046,18676680,16908670,15930518,15593299,15203218,14702039,14592415,14570867,12925201,12917409,12111378,11435699,11355874,11095984,11054552,8889548,19913121,20628086,19170196,19625176,19692168,19721717,20855565 10347 NM_019112,AC011558,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,CH471139,AB055390,AF140342,AF250238,AF328787,AK097344,AK301108,AK310127,AK310909,AL137481,BU675136,CD629701,DC405492 NP_061985,AAN04657,EAW69556,EAW69557,EAW69558,EAW69559,EAW69560,EAW69561,EAW69562,EAW69563,EAW69564,BAB62294,AAF06727,AAF85794,AAK00959,BAG53455,BAG62707,CAB70762,Q8IZY2,Q9NT80,AAI72426 Hs.134514 ABCA-SSN|ABCX|FLJ40025 ATP-binding cassette sub-family A member 7|autoantigen SS-N|macrophage ABC transporter protein-coding 1316041 ABCA8 ATP-binding cassette, sub-family A (ABC1), member 8 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The function of this protein has not yet been determined. [provided by RefSeq] 1580863 12379217,19343046,15489334,14702039,12477932,12111378,11329013,10048485,8889548 10351 NM_007168,AC005922,AC015844,CH471099,AB020629,AK090894,AK295876,AK304286,AK304360,BC010392,BC024003,BC037309,BC047765,BC094689,BC130280,BC143971,BC143972,BG210966,BM665457,BM707283 NP_009099,EAW89068,EAW89069,BAA74845,BAG58673,BAG65144,BAG65201,AAH24003,AAH37309,AAH47765,AAH94689,AAI30281,O94911,Q49AI9 Hs.58351 KIAA0822|MGC163152 ATP-binding cassette sub-family A member 8 protein-coding 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] 1580863 15489334,14702039,12477932,12150964,11435397,8894702,8889549,20877624 10350 AC005922,AF423308,AF423309,AF423310,AF423311,AF423312,AF423313,AF423314,NM_080283,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,CH471099,AF423307,AK057068,AK074491,AK122687,AL833712,AW130042,AY028899,BC062472,BU072174,BU076154,CR627382,W84726 NP_525022,AAN32752,EAW89071,EAW89072,EAW89073,EAW89074,AAN32751,BAB71359,BAC11021,AAK30024,AAH62472,CAH10479,Q6AI35,Q8IUA7,AAI67781 Hs.131686 DKFZp686F2450|EST640918|MGC75415 ATP-binding cassette A9|ATP-binding cassette sub-family A member 9|OTTHUMP00000179123 protein-coding 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] 2315557,2315573,2315550,2312331,2312343,2315559,2315560,2315562,2315549,2315553,2315556,1598554,1580863,1598562,1598563,1598564,1358367,1598558,1598559,1598568,1598560,1358366,2316977,4890020,4890033 20102361,20689757,20826260,20831524,20833683,20839930,20843132,20859246,20860463,20881953,20922799,20931330,20938465,20959405,20959500,20970553,20970601,20970628,20970643,21047202,21056987,21057378,21063774,21072155,21072184,21076384,21079659,20217131,1972623,1967175,1360409,15934943,9542318,15696166,19626470,19625010,19621425,19617466,19605531,19593168,19584153,19575027,19564743,19558216,19555315,19550405,19546880,19539100,19523815,19513507,19504558,19474786,19470925,19470683,19456124,19447222,19445670,19440975,19433561,19421142,19415824,19415305,19405050,19400747,19393132,19388849,19384845,19384171,19376366,19373654,19360342,19356075,19349543,19349540,19343046,19332043,19331170,19317599,19290795,19289993,19288456,19288029,19285158,19285054,19282874,19282465,19282152,19279227,19267185,19258929,19255821,19250544,19243013,19239339,19239322,19238649,19238367,19238328,19236881,19232333,19228751,19228205,19215299,19207033,19205682,19203783,19197249,19196542,19192650,19188929,19185004,19184162,19183974,19178561,19167193,19165709,19159494,19151448,19143748,19141860,19138818,19137355,19129072,19115152,19114346,19107781,19107762,19106083,19101657,19100412,19099191,19093297,19086053,19074885,19074750,19072639,19072027,19067682,19052456,19048498,19048359,19037199,19034006,19033450,19020725,19010156,19006072,19005482,19005421,19005401,19001875,18996102,18989234,18981011,18981009,18979093,18978522,18972317,18940259,18936931,18936436,18930278,18926661,18855017,18854777,18851956,18851949,18838068,18836089,18829547,18823430,18820766,18819034,18816302,18812689,18812236,18810246,18809583,18804983,18801030,18765553,18760199,18756548,18718676,18717915,18713069,18708991,18708637,18704002,18702631,18696186,18695635,18689982,18688081,18687982,18680196,18676680,18673531,18657537,18654608,18650266,18644389,18641553,18639335,18636247,18628469,18622260,18619980,18619946,18607581,18602086,18596043,18593522,18589174,18588889,18582803,18581211,18581209,18570599,18568776,18559609,18550244,18547906,18543120,18539442,18524988,18518969,18518855,18511651,18509327,18509181,18502461,18494787,18474294,18460034,18444945,18442890,18441325,18436433,18424454,18416940,18414651,18408564,18408562,18408561,18395509,18393221,18391751,18389626,18385010,18382661,18381794,18379872,18377430,18348284,18340565,18338763,18336668,18334915,18334914,18329296,18324624,18318115,18310046,18305404,18303963,18300948,18294295,18287207,18285546,18280247,18279661,18272218,18257092,18243305,18240903,18223462,18223457,18221820,18215618,18214345,18200595,18195061,18192894,18165917,18095031,18091560,18090046,18086475,18080812,18075465,18059532,18058465,18058211,18056183,18035065,18028890,18004247,18003760,18003606,18001833,17963743,17955490,17954267,17952118,17943188,17940136,17938643,17934801,17925548,17924830,17922881,17922049,17919092,17917461,17913323,17913048,17898703,17891478,17890284,17885626,17885624,17880367,17875533,17875118,17852453,17851225,17828778,17828752,17803828,17785057,17706648,17701008,17700595,17700364,17697203,17696319,17690695,17688368,17674045,17671692,17667922,17665184,17662696,17653693,17652833,17636884,17635182,17635180,17635176,17622943,17611654,17610314,17608770,17608636,17596751,17579122,17577681,17568669,17568575,17560460,17559997,17559192,17556798,17551301,17549370,17548929,17548683,17548681,17548493,17545536,17545060,17542018,17541883,17541169,17541155,17534875,17530867,17529887,17526937,17526808,17524504,17523278,17521963,17519790,17517050,17510208,17505995,17495881,17492365,17489883,17488488,17468018,17460550,17445775,17443726,17434155,17425754,17418094,17417072,17409981,17409824,17404720,17394131,17392393,17391324,17387584,17377957,17377214,17376299,17372036,17361121,17354009,17352764,17340137,17332941,17328248,17324111,17312388,17306068,17301693,17301692,17300681,17296590,17286792,17283040,17262810,17262809,17260353,17259654,17255827,17255262,17242936,17225463,17220567,17206635,17202846,17198275,17198259,17192767,17190370,17187507,17185560,17184596,17181924,17178268,17178267,17177989,17165089,17157997,17148776,17148033,17146660,17142980,17125969,17120199,17113599,17113562,17112846,17112845,17112800,17108809,17107902,17100974,17085864,17083370,17080296,17062699,17054409,17050796,17049058,17047492,17043887,17042920,17038891,17033200,17032130,17027968,17020985,17015054,17015051,17011724,16999857,16990202,16969296,16960658,16956878,16953664,16953066,16950614,16946557,16932953,16930597,16929535,16926592,16912957,16906020,16896007,16869811,16857572,16847760,16847425,16844693,16842392,16830791,16827636,16821592,16819187,16800822,16797284,16791115,16788565,16773678,16773437,16771603,16769591,16765145,16753004,16753003,16740770,16733848,16723498,16722833,16721513,16704962,16702732,16691488,16679408,16648557,16633048,16628701,16614510,16608921,16595916,16584389,16580900,16566920,16547352,16542858,16542205,16538177,16531628,16529292,16523342,16521213,16513443,16507781,16505951,16505485,16494108,16492138,16489767,16481289,16478794,16467099,16462040,16434865,16434479,16431292,16413242,16410721,16409819,16386926,16386826,16382445,16382213,16381901,16380805,16374256,16355344,16338277,16338276,16331627,16331555,16321621,16321374,16315033,16306861,16305727,16299241,16288004,16284462,16278398,16278376,16277030,16277027,16267764,16259010,16249748,16239972,16223781,16220110,16214115,16206189,16170863,16168133,16146556,16146331,16142320,16141933,16138358,16138223,16103896,16091741,16083877,16044113,16042669,16042402,16041239,16004559,16002074,15976989,15975076,15974580,15964250,15962371,15961978,15961534,15952872,15950972,15947495,15936020,15931768,15919447,15919446,15917726,15912392,15901749,15886424,15857428,15832500,15814280,15813023,15808585,15801936,15784621,15778422,15778421,15772250,15767512,15750390,15725475,15718846,15717687,15713537,15709212,15707415,15704610,15690482,15685540,15671173,15665957,15659247,15651752,15622315,15618713,15618700,15618625,15598974,15592326,15588114,15570194,15563462,15547738,15543762,15542593,15542248,15536457,15535420,15535131,15521904,15505619,15502717,15498565,15489336,15488952,15487808,15452306,15452305,15382145,15379547,15371983,15351976,15339676,15312098,15288699,15280437,15277258,15272088,15257034,15256718,15247630,15247215,15234575,15226679,15226675,15203864,15179406,15167702,15159385,15138130,15131592,15116055,15115917,15102868,15102684,15089809,15084935,15083070,15081455,15059065,15033457,15015771,14984901,14976162,14962262,14769796,14767809,14752243,14749322,14747421,14711599,14676821,14662772,14646693,14640677,14631505,14610718,14600574,14586389,14583799,14583680,14583679,14583678,14580164,14576852,14563687,14563443,14522974,12969965,12968025,12966368,12960109,12909621,12907627,12879168,12853948,12851703,12848778,12819250,12819037,12817518,12810633,12810067,12805007,12804765,12781336,12777401,12739761,12724617,12711602,12698307,12690205,12686700,12684679,12662900,12653559,12609990,12604403,12593536,12592352,12576456,12566917,12565174,12548153,12545142,12545080,12527911,12512026,12492608,12490309,12485913,12452027,12441809,12437356,12426522,12426521,12424247,12408767,12406646,12392094,12389613,12368167,12360104,12360103,12237135,12226074,12223492,12208746,12202670,12189368,12177731,12175731,12174914,12172213,12172212,12163030,12152989,12145328,12130511,12125964,12112526,12091325,12089380,12084474,12082591,12073053,12070134,12065748,12055198,12031911,12011154,12010657,11990782,11990778,11989822,11986944,11980438,11960367,11949840,11937269,11925925,11908757,11891276,11865062,11855781,11829140,11809184,11786185,11771758,11727264,11697464,11563129,11536079,11503014,11502320,11463358,11356939,11337937,11258197,11240981,11230166,11076863,10790226,10716719,10441477,9885221,9473242,9272126,9038218,9029166,8898203,7909431,7621073,3477522,3027054,2897240,2891692,2876781,2571078,2568832,1976255,19950199,18231753,20540746,20955690,20209493,20658178,20815915,19644155,3768958,17088979,3022150,12493773,18029348,19714749,20338046,20636108,20103600,20403441,20496145,20589615,20844484,20944127,11877091,12477932,17697546,17956668,18088459,18344085,18440836,18718061,19019175,19035180,19170196,19304516,19351508,19352661,19370547,19384922,19437139,19450121,19450124,19460946,19490125,19506903,19552816,19571437,19617332,19619277,19625176,19629677,19631272,19632288,19636001,19639185,19651439,19655414,19659438,19661039,19663671,19663741,19667110,19672706,19685447,19688973,19692168,19694740,19720156,19723047,19729569,19729888,19732422,19737648,19740397,19740399,19745014,19748977,19752884,19760622,19761365,19762492,19769534,19771428,19774638,19784880,19785662,19789190,19796545,19802823,19812066,19815951,19819348,19819701,19832037,19840843,19842932,19844206,19845769,19855314,19858398,19862647,19865079,19878569,19879256,19885591,19885596,19888426,19890215,19891551,19896927,19904007,19916993,19924384,19925383,19930591,19934400,19934793,19940361,19946748,19956635,19956884,19956892,19969351,19997080,20004641,20012601,20017669,20025534,20030680,20031551,20038391,20040338,20060871,20061922,20064729,20078610,20082268,20085590,20110013,20110084,20136364,20146171,20147896,20160155,20166790,20173083,20177420,20179710,20182906,20189873,20195292,20204543,20212519,20233511,20234362,20297661,20304939,20331623,20332423,20354687,20357698,20368715,20368717,20371218,20371868,20376628,20379614,20383212,20388796,20389299,20394729,20403997,20411349,20415563,20417680,20437864,20440618,20448249,20453000,20464493,20468060,20479155,20490798,20491876,20496015,20504240,20505666,20512145,20526235,20528170,20531015,20532504,20533057,20488228,20699370,19913121,20533270,20554493,20563569,20567810,20571034,20578904,20587910,20602612,20602615,20605481,20625352,20625815,20627363,20627697,20628086,20634891,20638924,20660695,20662624,20664232,20679960,20696882,20707787,20712525,20716514,20720558,20801494,20801498,20492723,20510202,20558393,20430184,19958644,20056007,19615260,20525557,20624637,16712791,20372866 2315557,2315573,2315550,2312331,2312343,2315559,2315560,2315562,2315549,2315553,2315556,1598554,1598562,1598563,1598564,1358367,1598558,1598559,1598568,1598560,1358366,2316977,4890020,4890033 5243 AA776371,X58723,NM_000927,NG_011513,AC002457,AC005068,AF016534,AY910577,CH236949,CH471091,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,AB208970,AF016535,AK290159,AK308467,AY425005,AY425006,AY425007,BC130424,BQ720763,BQ882401,BX509020,CB164676,CR595422,EU852583,EU854148,M14758 NP_000918,AAM49149,AAB70218,AAW82430,EAL24173,EAW76940,EAW76941,EAW76942,EAW76943,AAA59576,AAA88047,AAA88048,CAA41558,BAD92207,AAB69423,BAF82848,AAR91621,AAR91622,AAR83914,AAI30425,ACF94687,ACF94688,AAA59575,O60213,P08183,Q59GY9,Q6TBL4,CAL38230 Hs.489033 ABC20|CD243|CLCS|GP170|MDR1|MGC163296|P-GP|PGY1 ATP-binding cassette sub-family B member 1|ATP-binding cassette, subfamily B, member 1|P-glycoprotein 1|colchicin sensitivity|doxorubicin resistance|multidrug resistance protein 1 protein-coding 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] 1580863 7766993,10922475,10748049,19343046,19151771,15252450,15215243,12477932,11829140,20877624 23456 NM_012089,AL121990,CH471098,AB013380,AF216833,AF277184,AK172794,BC064930,DQ786241,U18237 NP_036221,CAI22012,EAW69901,BAB20265,AAF78198,AAK07543,BAD18770,AAH64930,AAA84438,Q6ZMF8,Q9BXW0,Q9NRK6 Hs.17614 EST20237|M-ABC2|MTABC2 ABC transporter 10 protein|ATP-binding cassette sub-family B member 10, mitochondrial|ATP-binding cassette transporter 10|mitochondrial ATP-binding cassette 2 protein-coding 1345233 ABCB10P1 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 1 10922475,7766993 56476 NG_005041,AC116165,AF218417 ABCB10P|M-ABC2|MABC2 pseudo 3516544 ABCB10P3 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 3 728248 AC091304,NG_022122,AC138747 pseudo 3418289 ABCB10P4 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 4 100132289 AC138749,NG_022102 pseudo 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] 1580863,1598583,1598580,1598571,1598596,625722,2316977,1598579 18692205,18676680,18668439,18660489,18521185,18395098,18270374,18176959,17622941,17264802,16941683,16890614,16871584,16763017,16749857,16290310,16039748,15791618,15471871,15300568,15159385,15077010,14999697,14762791,12825874,11829140,11815775,11783115,11745042,11600213,11495894,11172067,10579978,9545351,20447715,20683201,9806540,19408031,19343046,19101985,19060910,18987030,20414253,20028269,20147439,19845854,19913121,20628086,20723035,19170196,19571440,19625176,19669124,19692168,19821532,19833092,19888660,19898482,19937311,20010382,20163776,20232290,20379614,20453000,20702406,20855565,20858683,20883210 1598583,1598580,1598596,625722,2316977,1598579 8647 NM_003742,NG_007374,AC008177,AC069137,AC093723,CH471058,CS016617,AB012959,AF091582,AF136523,AK302540,AK303050 NP_003733,AAY24305,AAY24100,EAX11285,EAX11286,EAX11287,CAI54162,BAA88711,AAC77455,AAD28285,BAG63812,BAG64170,O95342,Q53S60,Q9UIL3 Hs.658439 ABC16|BRIC2|BSEP|PFIC-2|PFIC2|PGY4|SPGP ABC member 16, MDR/TAP subfamily|ATP-binding cassette sub-family B member 11|bile salt export pump|progressive familial intrahepatic cholestasis 2|sister p-glycoprotein protein-coding 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] 1358123,1598588,1598589,1300324,1300325 18231753,20855565,21072184,19467940,19584064,19593667,19998509,20163776,20453000,20422496,7912658,8106172,19408031,19343046,19266607,19261551,19185004,19018976,18781607,18671305,18660489,18482588,18083082,17786139,17726488,17562004,17523162,17264802,17187437,16891356,16890614,16857572,16854530,16763017,16696816,15258199,15159385,15077010,14999697,14527955,12891548,12853948,12746424,12690205,12477932,12388190,12381474,12206920,11745043,11313316,10767346,9923886,9419367,8898203,7912266,7893760,7734012,3477522,2906314,2892668,2002063,9542318,19913121,20628086,20683201,20414253,19840247 1358123,1598588,1598589,1300324,1300325 5244 NM_018849,NM_000443,NG_007118,AC005045,AC005068,AC006154,CH236949,CH471091,EF034088,Z35286,BC020618,BC042531,M23234,X06181,NM_018850,Z35284 NP_061338,NP_061337,NP_000434,AAD05023,EAL24174,EAL24175,EAL24176,EAW76944,EAW76945,EAW76946,EAW76947,EAW76948,EAW76949,EAW76950,EAW76951,EAW76952,ABJ53424,CAA84543,AAH20618,AAH42531,AAA36207,CAA29547,CAA84542,O43249,P21439,Q4G0Q4,Q6PJ81,Q75MQ5 Hs.654403 ABC21|GBD1|MDR2|MDR2/3|MDR3|PFIC-3|PGY3 ATP-binding cassette sub-family B member 4|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 protein-coding 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] 20339536,20068175,21212411,20682318,19477512,18202660,17661346,15899824,15760339,15489334,15205344,12960149,12690205,12477932,8894702,9542318,15488952,20729912,20950786 340273 NM_001163941,NM_001163942,NM_001163993,AC002486,AC005060,CH236948,CH471073,AB353947,AF319622,AF399931,AI334015,AK127141,AL040763,AY090613,NM_178559,AY234788,AY785909,AY851364,AY851365,BC044248,BC104894,BC104920,BC110370,BM471690,BX452500,BX537763,CR595059,H99394,AY230001 NP_848654,NP_001157413,NP_001157414,NP_001157465,EAL24273,EAW93726,EAW93727,BAF75364,AAN76500,AAQ03033,AAM09027,AAP55848,AAO73470,AAX11382,AAW31629,AAW31630,AAI04895,AAI04921,A0ASV4,Q2M3G0,EAL24274 Hs.404102 ABCB5alpha|ABCB5beta|EST422562 ABCB5 P-gp|ATP-binding cassette protein|ATP-binding cassette sub-family B member 5|P-glycoprotein ABCB5 protein-coding 731735 ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq] 1580863,1300326 10837493,11977179,11955620,19343046,18279659,17661442,17006453,16791740,15489334,14702039,12477932,9288777,9110174,8894702,8619474,20823549,20877624 1300326 10058 AL560811,AW664349,NM_005689,AB039371,AC068946,AF308473,CH471063,AF070598,AF076775,AF308472,AJ289233,AK026067,AK057026,AK172812,AK303230,BC000559,BC043423,CR609962,U66673 NP_005680,BAA96733,AAG33618,EAW70694,EAW70695,EAW70696,EAW70697,EAW70698,EAW70699,EAW70700,EAW70701,EAW70702,EAW70703,EAW70704,EAW70705,AAC28653,AAF75107,AAG33617,CAB95766,BAB71347,BAD18782,BAG64317,AAH00559,AAH43423,Q9NP58,ABM82802,ABM85989 Hs.107911 ABC|ABC14|EST45597|FLJ22414|MTABC3|PRP|umat ATP-binding cassette half-transporter|ATP-binding cassette sub-family B member 6, mitochondrial|OTTHUMP00000206108|P-glycoprotein-related protein|mitochondrial ABC transporter 3|mt-ABC transporter 3|ubiquitously-expressed mammalian ABC half transporter protein-coding 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 implicated in X-linked sideroblastic anemia with ataxia. [provided by RefSeq] 1298634,1598600,1580863 12477932,11843825,11050011,11042152,9883897,9653160,9143506,8894702,17006453,12480705,9621516,10196363,19343046,18398482,17941052,15772651,15489334,14702039,18029348 1298634,1598600 22 AF133659,AK001418,AK294657,AK307414,BC006323,BG722908,BQ630948,BT009918,BX537833,CR612563,AF078777,NM_004299,NG_007980,AF241887,AL359545,AL360179,AL590232,CH471104,AF038950 AAD47141,AAD33045,BAG50910,BAG57829,AAH06323,AAP88920,CAD97847,O75027,Q7Z3K5,ABM81618,ABW03277,NP_004290,AAK20173,CAI41573,CAI41574,CAH70564,CAH70565,EAW98632,EAW98633,EAW98634,EAW98635,EAW98636,EAW98637,AAC39865 Hs.370480 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 protein-coding 1316973 ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. The function of this half-transporter has not yet been determined; however, it may involve the compartmentalization and transport of heme, as well as peptides, from the mitochondria to the nucleus and cytosol. This protein may also play a role in the transport of phospholipids into mitochondrial membranes. [provided by RefSeq] 1580863 9878413,19343046,19151771,19147539,16344560,14702039,12477932,11829140,9373149,8894702,8125298,16169070,20379614,20877624,19913121,20628086 11194 NM_007188,AC010973,CH471173,AF047690,AF086382,AK002018,AK024401,AK094005,AK094636,AK126885,AK222911,AK294344,AK310796,AK314721,AL117497,BC141814,BC141836,BC151235,CR592221,CR595185,CR599833,CR610778,CR616094,DA147595,DB540313 NP_009119,EAW54056,EAW54057,EAW54058,EAW54059,EAW54060,EAW54061,EAW54062,EAW54063,EAW54064,EAW54065,EAW54066,AAD15748,BAA92038,BAG51294,BAG52795,BAC04392,BAD96631,BAG57613,BAG37265,AAI41815,AAI41837,AAI51236,Q6ZRM3,Q8N1X3,Q9NUT2,AAI43081,AAI46830 Hs.647118 EST328128|M-ABC1|MABC1 ATP-binding cassette sub-family B member 8, mitochondrial|OTTHUMP00000213264|mitochondrial ABC protein|mitochondrial ATP-binding cassette 1 protein-coding 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. The function of this half-transporter has not yet been determined; however, this protein may play a role in lysosomes. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specifications. [provided by RefSeq] 1580863 16344560,10748049,19343046,18952056,18434309,18175933,17977821,16554024,15863492,15491607,15489334,15302935,14702039,13679046,12477932,11829140,11011155,10819331,8894702,8889548,20377823,15577206 23457 BC064384,CA503047,CR592700,CR614075,DA796102,U66676,BC017348,NM_203444,NM_019624,NM_019625,AC026362,AC027290,CH471054,CS071961,CS071963,AB040953,AB045381,AB112582,AB112583,AB177852,AF216494,AK027624,AK074738,AK294225,AK304295,AL833963 AAH17348,AAH64384,Q5W9G7,Q6P2Q0,Q769F3,Q769F4,Q8NCH1,Q8NDJ1,Q9NP78,NP_982269,NP_062570,NP_062571,EAW98353,EAW98354,EAW98355,EAW98356,EAW98357,EAW98358,EAW98359,EAW98360,EAW98361,EAW98362,EAW98363,CAI93387,CAI93388,BAA96044,BAA97989,BAC98409,BAC98410,BAD66830,AAF89993,BAG51360,BAC11171,BAG57529,BAG65152,CAD38811 Hs.511951 EST122234|KIAA1520|TAPL|hABCB9 ABC transporter 9 protein|ATP-binding cassette sub-family B member 9|ATP-binding cassette transporter 9|TAP-like protein|tap-like abc transporter protein-coding 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. Alternative splicing by exon deletion results in several splice variants but maintains the original open reading frame in all forms. [provided by RefSeq] 631914,1580863 18711657,19019175,19393132,19438741,19513507,19552816,19636555,19672972,19687781,19723058,19851296,19883630,19885582,19897579,19924384,19940267,19948975,19956635,19969351,20004175,20093746,20198315,20200426,20233511,20234362,20453000,20487524,20520284,20532504,2753893,1360704,15999530,19349540,19343046,19291917,19285030,19235593,19214144,19214143,19165709,19129072,19107762,19067123,19065772,19063607,18924151,18851956,18838379,18799096,18775981,18713069,18702307,18690847,18680196,18621020,18439156,18400250,18381794,18336795,18316614,18280247,18256692,18204073,18200595,18056276,18038766,17980150,17925548,17890284,17875533,17852453,17710652,17606722,17596751,17494643,17445775,17350479,17336270,17295059,17264072,17215852,17203221,17050692,17033200,16960658,16946557,16914551,16883578,16821592,16784241,16697012,16621983,16565074,16551273,16547352,16481346,16464259,16410721,16330681,16293801,16278376,16230346,16156793,16041243,16041239,16014004,15856298,15810950,15628876,15623154,15472893,15355964,15269137,15260484,15252017,15245331,15208328,15161912,15155846,14984901,14737110,14722114,14580377,14578045,14561746,12960109,12954620,12954082,12925771,12897808,12890151,12882957,12856092,12783859,12653207,12646196,12628490,12576456,12486126,12458196,12388627,12388549,12235150,12186871,12163030,12146977,12135486,12119019,12084474,12042670,12034727,12018890,11996108,11995968,11986944,11937269,11925441,11820781,11809686,11783953,11771758,11755464,11721885,11689020,11600213,11561076,11557130,11469806,11465409,11439001,11278867,11278596,11266082,11139250,11114332,10950878,10835642,10811882,10493829,10064732,9485377,9441948,9344662,9334225,9295302,8831715,8649356,8098549,7916458,16395283,18029348,20922799,20109555,20388502,20604746,21090806,19875192,19913121,20530282,20628086,20689807,19969624 631914 4363 EF419769,NM_019862,NM_019899,AC003026,AC025778,AC130651,AC136624,AF022853,CH471226,U91318,AB209120,AJ003198,AK311015,BC001636,BX648866,CR749835,L05628,X78338,NM_004996,NM_019900,NM_019898 ABN79590,NP_063953,NP_063915,NP_063954,AAC05808,AAB83979,AAB83980,AAB83981,AAB83982,AAB83983,EAW53936,EAW53937,EAW53938,EAW53939,EAW53940,EAW53941,EAW53942,EAW53943,EAW53944,EAW53945,EAW53946,EAW53947,EAW53948,EAW53949,AAC15784,BAD92357,AAH01636,CAH18691,AAB46616,P33527,Q68CP7,Q9BV39,Q9UQ98,AAI56354,AAI57106,NP_004987,NP_063955 Hs.391464 ABC29|ABCC|DKFZp686N04233|DKFZp781G125|GS-X|MRP|MRP1 ATP-binding cassette sub-family C member 1|LTC4 transporter|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 protein-coding 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. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq] 1358123 19343046,19082471,17203221,16034073,15256465,14702039,14574404,12566991,12527806,12477932,11146224,8894702,18974132,19118001,19150344,19720054,19841739 1358123 89845 BC024103,CR598420,AL359813,CH471081,AK000002,AK024446,AL122095,AL133613,AY032599,NM_033450,NM_001198934 AAK39642,AAH24103,Q5T3U2,Q5T3U3,Q5T3U5,Q8TBA1,Q9UFG1,AAI66699,NP_258261,CAI23217,CAI23218,CAI23219,CAI23220,EAX04180,EAX04181,EAX04182,EAX04183,EAX04184,EAX04185,BAA92227,BAB15736,CAB59263,CAB63742,NP_001185863 Hs.55879 EST182763|MRP7|SIMRP7 ATP-binding cassette sub-family C member 10|multidrug resistance-associated protein 7 protein-coding 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] 1580863 12764137,19383836,19336370,19240178,17095618,16444273,16359813,15537867,15331440,15277376,12477932,12133003,12076558,11803621,11802779,11688999,11591886,11483364,11435397,19557017,19625231,19644513,19650936,19710689,20718756 85320 NM_145186,NM_032583,NM_033151,NG_011522,AC007600,AC096996,CH471092,AF352582,AF367202,AF411579,AK301547,AL117406,AY040219,BC039085 NP_660187,NP_115972,NP_149163,EAW82715,EAW82716,EAW82717,EAW82718,EAW82719,EAW82720,EAW82721,EAW82722,AAK19755,AAK58869,AAL99902,BAG63044,AAK76739,Q96J66,AAI52903,AAI57085 Hs.652267 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|multi-resistance protein 8|multidrug resistance-associated protein 8 protein-coding 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] 1580863 16344560,15489334,14965249,12477932,12011458,11688999,11483364,11435397,20877624,19615732,20379614 94160 AC096996,NM_033226,CH471092,AF395908,AF395909,AF411577,AF411578,AK122635,AK127951,AK302520,AK307109,AK308599,AY040220,AY196326,BC036378,DA096073 NP_150229,EAW82705,EAW82706,EAW82707,EAW82708,EAW82709,EAW82710,EAW82711,EAW82712,EAW82713,EAW82714,AAL79528,AAL79529,AAL99900,AAL99901,BAG53632,BAG63794,AAK76740,AAO40749,Q96J65,AAI46311,AAI48750 Hs.410111 MGC27071|MRP9 ATP-binding cassette sub-family C member 12|ATP-binding cassette transporter sub-family C member 12|multidrug resistance-associated protein 9 protein-coding 1352103 ABCC13 ATP-binding cassette, sub-family C (CFTR/MRP), member 13 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] 1580863 10049586,12477932,16124856,15203202,14759258,12909339,12445816,12036298,10830953,8894702,18668432 150000 CS300709,NR_003087,NR_003088,AF130358,AP001660,AY344118,CH471079,AF418600,AF518320,AF518321,AY063514,AY063515,AY344117,BC144077,DR004370 CAK32373,BAA95546,AAQ65077,EAX10058,EAX10059,AAL99903,AAM70494,AAM70495,AAL47201,AAL47202,AAQ22368,Q9NSE7 Hs.366575 C21orf73|PRED6 ATP-binding cassette protein C13 pseudo 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] 1358123,2312726,2312728,2312730,631914,1598602,1598558,1598611,1598613,1598614,1598616,1598571,1598605,69812,1580863,704399,2312736,2312809,2317509,2316977,2317508 20530282,20565459,20679960,20720558,12388192,12222674,12130697,12068294,11952788,11937269,11745434,11677213,11500505,11477083,11266082,11093739,11076395,11004020,10573531,10496535,10464142,10361853,10053008,9878557,9525973,9425227,9284939,9185779,8894702,8797578,8662992,20702406,20658178,12477932,16385451,19170196,19421150,19442037,19451719,19480556,19568750,19625176,19636001,19692168,19696793,19730281,19771428,19776292,19842932,19857663,19865079,19885582,19885591,19890061,19937833,19944137,19956635,19956884,20061166,20124171,20147615,20173083,20200426,20204280,20216337,20368715,20453000,16712791,20404332,17485564,12395335,19010343,18981587,18974617,18946804,18926681,18838068,18799096,18697280,18695635,18690847,18676680,18597651,18518855,18509327,18498916,18445995,18439156,18416940,18381794,18381564,18334920,18294295,18221820,18192894,18180270,18176959,18038766,17997497,17925548,17924828,17906856,17890284,17825285,17725603,17622941,17606722,17578901,17534875,17502832,17494643,7559771,19541926,19513507,19494809,19415824,19400747,19349540,19343046,19214140,19167193,19098406,19074644,19038257,19020751,19017997,17478601,17403188,17287630,17241877,17185998,17156953,17145840,17112803,17083032,17060857,17047488,16946557,16821592,16791115,16788565,16771603,16672223,16628674,16542205,16505951,16426233,16341674,16330681,16041239,15922475,15870973,15848949,15801936,15519273,15226675,15211708,15057744,14568249,12960109,12942343,12890151,12704183,12702717,12628490,12615054,12576456,20439344,20102361,20839930,20922799,20943283,20973683,21072184,20082599 1358123,2312726,2312728,2312730,631914,1598602,1598558,1598611,1598613,1598614,1598616,1598605,69812,704399,2312736,2312809,2317509,2316977,2317508 1244 NM_000392,NG_011798,AF144630,AJ132244,AL133353,AL392107,CH471066,CS172499,BC136419,BM765259,CB120555,U49248,U63970,U66683,X96395,GM000488 NP_000383,AAD47599,CAB45309,CAI14502,CAI14503,CAI11010,EAW49852,EAW49853,CAJ33679,AAI36420,AAB09422,AAB39892,CAA65259,Q5TCZ5,Q92887,Q9UN90,CAS97349 Hs.368243 ABC30|CMOAT|DJS|KIAA1010|MRP2|cMRP ATP-binding cassette sub-family C member 2|canalicular multidrug resistance protein|canalicular multispecific organic anion transporter 1|multidrug resistance-associated protein 2 protein-coding 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] 1358123,2301069,2301064,2301062,2301060,1300327,1598620,1580863,2301067,2325200 19345732,19480556,19956884,20200426,20379614,20453000,20563633,9813153,9738950,19343046,19334674,19114588,19107936,19077464,18799096,18698235,18604784,18593940,18313914,18207572,18038766,17495421,17494643,17485564,17300812,17272513,16946557,16460798,16424827,16278398,15824121,15688370,15167703,14759258,12704183,12628490,12477932,12220224,11850532,11820781,11745434,10772892,10362653,10340910,10094960,9889399,9827529,9270026,8894702,10359813,19937796,19913121,20628086,20922799 1358123,2301069,2301064,2301062,2301060,1300327,1598620,2301067,2325200 8714 NM_003786,NM_001144070,AC004590,AC005921,AJ294545,CH471109,AB010887,AB208954,AF009670,AF083552,AF085690,AF085691,AF085692,AF104943,AF154001,AK000791,BC034683,BC046126,BC050370,BC058907,BC104952,BC127655,BC131755,BC137347,BC137348,BX649137,U83659,Y17151 NP_003777,NP_001137542,CAC69553,EAW94590,EAW94591,EAW94592,EAW94593,EAW94594,BAA28146,BAD92191,AAD01430,AAC34668,AAD02845,AAD02846,AAD02847,AAD04170,AAD38185,AAH46126,AAH50370,AAI04953,AAI37348,AAI37349,AAB71756,CAA76658,O15438,Q2M3C9,Q59H05,Q86VN9,Q96QA9 Hs.463421 ABC31|DKFZp686E22157|EST90757|MLP2|MOAT-D|MRP3|cMOAT2 ATP-binding cassette sub-family C member 3|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 protein-coding 1352399 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in cellular detoxification as a pump for its substrate, organic anions. Alternative splicing results in multiple splice variants encoding different isoforms. [provided by RefSeq] 2301085,1580863 19913121,20628086,7557451,15297306,19515727,19400747,19343046,19138942,19082692,19077464,19073137,18690847,18676680,18662272,18636120,18625884,18615486,18612080,18364470,18045536,17959747,17939016,17903305,17878487,17696930,17682070,17578901,17404579,17229149,17083032,17081983,17003774,16791115,16282361,16156793,15827327,15364914,14643890,12883481,12835412,12792791,12695538,12637526,12523936,12499391,12477932,12133003,12105214,11991713,11856762,10470083,9661885,9270026,8894702,2806887,20727860,20804728,19170196,19399588,19480556,19625176,19692168,19696793,19735648,19903828,19940267,19956635,20018925,20032540,20133816,20200426,20379614,20393862,20547088,20922799,20395535,20530583 2301085 10257 AK309460,AY081219,AY133678,AY133679,AY133680,AY207008,BC041560,BX113883,BX647118,U83660,NM_005845,NM_001105515,AL139381,AL157818,AL356257,AL359750,CH471085,CS223373,AB208973,AF071202,AF071203,AF339763,AF541977,AK290317,AK296247,AK298953 BAH12910,AAL88745,AAN08628,AAN08629,AAN08630,AAO37649,AAH41560,AAB71757,O15439,O75555,Q59GY6,Q8IUA3,Q8IVZ4,Q8IWU1,NP_005836,NP_001098985,CAI16589,CAC36037,CAI16722,EAX08949,EAX08950,EAX08951,EAX08952,CAJ46926,BAD92210,AAC27076,AAC27077,AAN17334,BAF83006,BAH12293 Hs.508423 EST170205|MOAT-B|MOATB|MRP4 ATP-binding cassette sub-family C member 4|MRP/cMOAT-related ABC transporter|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 protein-coding 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] 1358123,2301088,1580863,2325200 9325169,9827529,15297306,19343046,19077464,18690847,17803828,17540771,17521428,16156793,15861033,15688370,15631998,15146197,14507663,12695538,12646196,12637526,12477932,12388627,10893247,10840050,10737800,10728601,10721709,10438534,10340910,9270026,8894702,20922799,19913121,20628086,19898482,19903828,19940267,19956884 1358123,2301088,2325200 10057 BC140771,BC142670,BC142719,BC144495,BE085682,BX647245,CN410200,CN429416,CR590924,CR619835,U66687,U83661,NM_001023587,AC068644,CH471052,AB005659,AB019002,AB209103,AB209454,AF104942,AF146074,AL524917,AW207515,AY196484,AY754874,AY754875,AY754876,BC050744,BC051358,NM_005688 AAI40772,AAI42671,AAI42720,AAB71758,O15440,Q29ZA9,Q29ZB1,Q59FK6,Q59GK6,Q86UX3,Q86W30,NP_005679,NP_001018881,EAW78306,EAW78307,EAW78308,EAW78309,EAW78310,BAA22887,BAA76608,BAD92340,BAD92691,AAD04169,AAD37716,AAO49801,AAW82948,AAW82949,AAW82950,AAH50744 Hs.368563 ABC33|DKFZp686C1782|EST277145|MOAT-C|MOATC|MRP5|SMRP|pABC11 ATP-binding cassette sub-family C member 5|OTTHUMP00000210861|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 protein-coding 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] 1358123,1580863,1331525,737772,1549868 10913334,10835643,10811882,10585762,10493829,10424734,9892204,9721217,9267806,8894702,4841083,3359381,20801516,20855565,8912525,10835642,19343046,19341707,19339160,19298904,19284998,19240061,19133228,19056482,18850323,18800149,18791038,18439156,18347285,18305351,18253096,18191640,18029147,18024896,17880583,17823974,17724214,17617515,17309461,17045963,16835894,16543900,16392638,16374464,16127278,16086317,15996518,15894595,15889270,15760889,15727254,15723264,15645653,15459974,14631379,12901863,12850230,12714611,12673275,12477932,12384774,12176944,11880368,11776382,11702217,11536079,11439001,11431746,11427982,11179012,11058917,10954200,19904211,19929409,20032990,20075945,20541540,20463007 1358123,1331525,737772,1549868 368 CR609146,DC361874,NM_001079528,NG_007558,AC136624,CH471226,U91318,AF076622,AF168791,AI074459,AK298295,AM711638,AM774324,AY078405,BC050733,BC131732,NM_001171 O95255,Q8TCY8,NP_001162,NP_001072996,EAW53950,EAW53951,EAW53952,AAC15785,AAC79696,AAD51293,BAG60553,CAN84639,CAO81806,AAL83711,AAH50733,AAI31733 Hs.442182 ABC34|ARA|EST349056|MLP1|MOATE|MRP6|PXE|PXE1|URG7 ATP-binding cassette sub-family C member 6|MOAT-E|URG7 protein|URG7 protein; multidrug resistance-associated protein 6|anthracycline resistance-associated protein|liver multidrug resistance-associated protein 6|multi-specific organic anion transporter E|multidrug resistance-associated protein 6 protein-coding 1625838 ABCC6P1 ATP-binding cassette, sub-family C, member 6 pseudogene 1 18405356,12477932 653190 NR_003569,AC136618,AK298443,BC075833 BAH12790 Hs.13188 pseudo 2293908 ABCC6P2 ATP-binding cassette, sub-family C, member 6 pseudogene 2 18405356,15760889,12477932 730013 NR_023387,AC136443,BC015978 Hs.460057 pseudo 733938 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described. [provided by RefSeq] 704365,2301903,2301896,2301904,2301898,2301913,2311063,2301911,2313628,2301901,2301906,2301914,2301897,737749,1580863,1598639,1598640,737750,704366,1598635,1625279,1598645,2325205 10506167,10447255,10338089,10334322,10204114,10202168,9769320,9653196,9648840,9618169,9568693,9519757,9135131,9041101,8923011,8751851,8650576,8635661,8630239,7920639,7847376,7716547,12937135,14660679,20410530,7502040,7716548,19498446,19475716,19343046,19139106,19056482,19021632,18996102,18988933,18828733,18796522,18767144,18758683,18679166,18664331,18599530,18596924,18497752,18392808,18390792,18346985,18339976,18290324,18281290,18162506,18025464,18025408,17942822,17942821,17919176,17823772,17668386,17636114,17597441,17593344,17575084,17535866,17516295,17446535,17389331,17378627,17317760,17259403,17213273,17207885,17118480,16897043,16885549,16873704,16613899,16429405,16416420,16373383,16357843,15842514,15840308,15807877,15613469,15579791,15579781,15562009,15356046,15111507,14728986,12941953,12941782,12879777,12540637,12364426,12356945,12213829,12199344,12149601,12118200,11938023,11867634,11825905,11692183,11536079,11318841,11226335,11160857,11018078,10639163,10615958,10506587,19913121,20602615,20628086,20682687,12475776,19254908,19342262,19578796,19587354,19766903,20079163,20164212,20215776,20384434,20453000,20734064,20863361 704365,2301903,2301896,2301904,2301898,2301913,2301911,2313628,2301901,2301906,2301914,2301897,737749,1598639,1598640,737750,704366,1598635,1625279,1598645,2325205 6833 NM_000352,NG_008867,AC124798,CH471064,L78243,U63455,AB209084,AF087138,AK297560,AW444836,DB636549,L40625,L78207,R84665,U63421 NP_000343,EAW68436,EAW68437,AAB02417,AAB02418,AAB36700,BAD92321,AAC36724,BAH12616,AAA99227,AAB02278,AAB36699,Q09428,Q59GM5,AAI67829 Hs.54470 ABC36|HHF1|HI|HRINS|MRP8|PHHI|SUR|SUR1|TNDM2 ATP-binding cassette sub-family C member 8|ATP-binding cassette transporter sub-family C member 8|atp-binding cassette, subfamily c (cftr/mrp), member 8|sulfonylurea receptor (hyperinsulinemia)|sulfonylurea receptor 1 protein-coding 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 extrapancreatic ATP-sensitive potassium channels. No disease has been associated with this gene thus far. Alternative splicing of this gene results in several products, two of which result from differential usage of two terminal exons and one of which results from exon deletion. [provided by RefSeq] 2301909,1580863,1598644,1598645,1598647,1300328 12477932,12356945,12189208,12145195,12107410,11825905,11136227,11054556,11007308,10625598,10498831,10497157,10093054,9755153,9714850,9692785,9457174,8630239,8826984,18026101,19481058,19343046,18996111,18663158,18239147,16820413,16672225,16563363,16267564,16189514,15339904,15034580,14702039,12934053,12738227,19913121,20628086,19952277,19962959,20474083 2301909,1598644,1598645,1598647,1300328 10060 NM_020297,NM_020298,NM_005691,AC008250,AC084806,AF061323,AF061324,CH471094,AK056519,AK092535,AK094171,BC033804,BX537513,BX640893,CA389699,CR619334,NG_012819 NP_064693,NP_064694,NP_005682,AAC16057,AAC16058,EAW96452,EAW96453,EAW96454,EAW96455,EAW96456,EAW96457,EAW96458,EAW96459,EAW96460,BAC04300,AAH33804,O60706,Q8N4N7,Q8N9N1 Hs.446050 ABC37|CMD1O|FLJ36852|SUR2 ATP-binding cassette sub-family C member 9|ATP-binding cassette transporter sub-family C member 9|sulfonylurea receptor 2|sulfonylurea receptor 2A protein-coding 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] 1580863,1598655 16331554,8040304,7668254,8441467,10551832,19343046,19204726,18973459,18481121,18306728,17828604,17761426,17662307,17542813,17504626,17285533,8004093,8002973,7959759,7904210,7849723,7825602,7811247,7717396,7581394,6795626,6524872,1746561,20659892,20376793,16087056,16018167,15781447,15772651,15772093,15643618,15489334,15001567,14767898,14556192,12624723,12579499,12530690,12509471,12477932,12210797,12175782,11992258,11883941,11810273,11798073,11748843,11438993,11248239,10980539,10777694,10737980,10704444,10480364,10369742,10190819,9702690,9215666,9195223,8651290,8566952,8535452,8520725,8507690,16756494,18757502,19406751,19787628,20042197,20889312,20661612 1598655 215 NM_000033,NG_009022,CH471172,DQ305405,U52111,Z31348,AY421736,AY421737,AY421738,BC015541,BC025358,CR590818,CR599919,Z21876 NP_000024,EAW72817,ABC41634,CAA83230,AAR07956,AAR07957,AAR07958,AAH15541,AAH25358,CAA79922,P33897,Q2PRN6,Q6TGM0,Q6TGM1,Q6TGM2,ABM81926,ABM85103 Hs.159546 ABC42|ALD|ALDP|AMN ATP-binding cassette sub-family D member 1|adrenoleukodystrophy protein protein-coding 1353939 ABCD1P1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 1 9215666,8829626 23785 NG_001246,U90290,X82264 pseudo 1351336 ABCD1P2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 2 9215666 26983 NG_001270,AL133173,U90288 bA453N3.6 pseudo 1342564 ABCD1P3 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 3 9215666 26982 NG_001269,AC138915,U90289 pseudo 1351987 ABCD1P4 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 4 10591208,9215666 26957 NG_001265,AP000543,U90291 ALD22Q11 pseudo 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] 1300329,1580863 10329405,10704444,11883941,10196381,19343046,18834860,18660489,17602313,16344560,16249184,15489334,12477932,10777694,10551832,9345306,9195160,8577752,20661612,20877624 1300329 225 BC104901,BC104903,DB259336,NM_005164,AC121334,AC125491,AF119822,AF119823,AF119824,AF119825,AF119826,AF119827,AF119828,AF119829,AF119830,AF119831,CH471111,U28150,AJ000327,AK314254 AAI04902,AAI04904,Q9UBJ2,BAG36920,NP_005155,AAD30439,EAW57807,AAB00541,CAA03994 Hs.117852 ABC39|ALDL1|ALDR|ALDRP|hALDR ATP-binding cassette sub-family D member 2|adrenoleukodystrophy-like 1|adrenoleukodystrophy-related protein protein-coding 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] 1580863,1300330,1598658 20562859,9521874,10704444,11883941,1301993,19343046,18660489,17602313,16710414,16344115,12477932,12176987,11453642,11248239,10777694,10551832,10447258,9199576,9126326,8726233,8453064,8449508,1536884,1301179,17353931,18029348,20877624,19913121,20628086,20661612,20007743,14702039,19615732,20379614,9922452 1300330,1598658 5825 NM_002858,NM_001122674,NG_008865,AC093117,AC118469,AL138758,CH471097,X83467,AK296791,AK302714,AK308159,BC009712,BC068509,BT006644,BX648715,DC317792,M81182,X58528,AK126440 NP_002849,NP_001116146,CAC15960,EAW73046,EAW73047,EAW73048,EAW73049,EAW73050,CAA58470,BAG59369,BAG63934,AAH09712,AAH68509,AAP35290,AAA60128,CAA41416,P28288 Hs.700576 ABC43|PMP70|PXMP1|ZWS2 70 kDa peroxisomal membrane protein|ATP-binding cassette sub-family D member 3|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) protein-coding 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] 1580863 15800013,12477932,12111378,9599016,9521874,9266848,18029348,19343046,16344560,15909363,9302272,8889548,16169070,20661612 5826 NR_003256,NM_005050,AC005519,CH471061,CQ798278,Y14318,Y14322,Y14323,AF009746,AK291332,AK297934,AK308382,BC012815,BF062605,BI916327,BM667379,BQ893869,BT007412,BX247984,BX248053,CR457104,CR593192,DA713794,DA799558,DC332064 NP_005041,EAW81165,EAW81166,EAW81167,EAW81168,EAW81169,EAW81170,EAW81171,EAW81172,CAG26855,CAA74699,AAB83967,BAF84021,BAH12692,AAH12815,AAP36080,CAD62318,CAD62355,CAG33385,O14678,Q86TW9,Q86U29,ABM83773,ABM87093 Hs.94395 ABC41|EST352188|P70R|P79R|PMP69|PXMP1L 69 kDa peroxisomal ABC-transporter|ATP-binding cassette sub-family D member 4|PMP70-related protein|PXMP1-L|peroxisomal membrane protein 1-like|peroxisomal membrane protein 69 protein-coding 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] 7539425,11585831,19343046,18189233,18006034,16344560,15809757,15489334,15107989,14747530,20372810,12600646,12578357,12477932,11780123,9877446,9847332,9660177,8838820,8641422,16275648,19615732,19657357,20122402 6059 NM_002940,NM_001040876,AC096757,CH471056,DQ148409,L24115,AB062293,AK315198,BC016283,BC016988,BT009779,CR620765,DA218189,X74987,X76388 NP_002931,NP_001035809,EAX05049,AAZ38723,BAB93476,AAH16283,AAH16988,AAP88781,CAA52920,CAA53972,P61221 Hs.12013 ABC38|OABP|RLI|RNASEL1|RNASELI|RNS4I 2'-5'-oligoadenylate-binding protein|ATP-binding cassette sub-family E member 1|OTTHUMP00000220421|RNase L inhibitor|huHP68|ribonuclease 4 inhibitor|ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) inhibitor protein-coding 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] 1580863 9790762,19343046,17894550,17456004,17119950,17081983,16964243,15489334,15345747,15302935,14574404,12477932,10931828,10581359,16169070,19570978,19851445,19912639,21048031 23 CR388372,CR753328,CR759778,CR847863,AB209564,AF027302,AK298061,AK307551,AL832430,BC016772,BC034488,BC112923,BI547952,BM556481,BU620927,CR591008,CR606523,NM_001090,AB023052,AB088096,AB103602,AB202093,AC006138,AL662800,AL662825,BA000025,BX000357,BX119957,BX248518,BX927220,CH471081,NM_001025091 CAQ07871,CAQ07872,CAQ07873,CAQ07874,CAQ07803,CAQ07804,CAQ07805,CAQ09400,CAQ09401,CAQ09402,CAQ10057,CAQ10058,CAQ10059,CAQ10060,BAD92801,AAC70891,EAX03302,BAG60354,CAH10648,AAH16772,AAH34488,AAI12924,Q2L6I2,Q59F96,Q5STZ7,Q5STZ8,Q8NE71,ABM82181,ABM85743,NP_001020262,NP_001081,BAC54928,BAF31263,BAE78612,CAI18156,CAI18157,CAI18158,CAI18159,CAI17835,CAI17836,CAI17837,BAB63325,CAI18561,CAI18562,CAI18563,CAM25906,CAM25907,CAM26015,CAM26016,CAM26017,CAM26018,CAQ09057,CAQ09058,CAQ09059,EAX03300,EAX03301 Hs.655285 ABC27|ABC50 ATP-binding cassette 50 (TNF-alpha stimulated)|ATP-binding cassette sub-family F member 1|TNF-alpha-stimulated ABC protein|TNFalpha-inducible ATP-binding protein protein-coding 1312673 ABCF2 ATP-binding cassette, sub-family F (GCN20), 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This protein is a member of the GCN20 subfamily. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 1580863 9878413,19343046,19002184,16996567,16203778,15489334,12853948,12690205,12477932,11435397,11124703,10944468,10922475,10581359,8894702,20877624 10061 NM_005692,NM_007189,AACC02000108,AC021097,CH471173,AF091073,AF261091,AF261092,AJ005016,AL050291,BC001661,BT007451,CR611017 NP_005683,NP_009120,EAL24507,EAL24508,AAS00378,AAS00379,EAW54013,EAW54014,EAW54015,EAW54016,EAW54017,AAC72942,AAG13902,AAG13903,CAA06290,CAB43392,AAH01661,AAP36119,O95324,Q75MJ0,Q75MJ1,Q9UG63,ABM83230,ABM86429 Hs.654958 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|iron-inhibited ABC transporter 2 protein-coding 1321386 ABCF3 ATP-binding cassette, sub-family F (GCN20), member 3 16344560,15489334,14702039,12477932,11435397,8894702,16169070 55324 NM_018358,AC131235,CH471052,AK002060,AK024758,AK027288,AK092415,AK097073,AK126150,AK290106,BC009253,BC035652,BC051754,BC051884,CR597756,CR607850,CR616374,DB079392,DC318082,AK299256,AK299433 NP_060828,EAW78288,EAW78289,BAA92063,BAB14989,BAC03881,BAF82795,AAH09253,AAH51754,AAH51884,Q9NUQ8,BAG61287,BAG61411 Hs.361323 EST201864|FLJ11198 ATP-binding cassette sub-family F member 3 protein-coding 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] 1580863,1300235 20585627,16702602,15994327,17293612,16870176,17408620,11500512,18490524,16780588,19343046,19287193,19168441,18827283,18660489,18640393,18619413,18599800,18057374,17848583,17761632,17387528,17241464,17187964,17141191,17121837,17082211,17020879,16902247,16857950,16730733,16357317,16054053,16024918,15584507,15492319,15489334,15240127,14702039,12477932,12032171,11590207,11350058,11279031,11162488,11072082,10950923,10830953,10799558,10639163,9110174,20395595,20675829,20713650,9034316,8703120,8659545,8619474,19913121,20057170,20628086,16556852,19481530,19556716,19839639,19895785,19948975,20170916,20931526,20798376 1300235 9619 AB038161,AF323658,AJ289137,AP001622,AP001623,AP001746,CH471079,AF038175,AF323660,AF323661,NM_207174,AF323662,AF323663,AF323664,AK092959,AK292152,AK298491,AL833689,AY048757,BC029158,BX537588,X91249,NM_207627,NM_207628,NM_207629,NM_004915,NM_016818 NP_997057,BAB13728,AAK28833,AAK28834,AAK28835,AAK28836,AAK28837,CAC00730,BAA95530,EAX09574,EAX09575,AAB97364,AAK28838,AAK28839,AAK28840,AAK28841,AAK28842,BAF84841,BAG60699,AAL06598,AAH29158,CAA62631,O43576,P45844,ABM82269,ABW03371,ACE87838,NP_997510,NP_997511,NP_997512,NP_004906,NP_058198,ACT64470 Hs.124649 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|OTTHUMP00000109327|homolog of Drosophila white|white protein homolog (ATP-binding cassette transporter 8) protein-coding 1352615 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. [provided by RefSeq] 2315573,2315584,2315568,2315569,2315580,2315587,1580863,2316977 19913121,20530282,20600004,20628086,20670164,20679960,20714133,20720558,17851787,17927879,18315895,18991020,19333723,19340456,19421150,19442037,19477032,19567678,19593328,19629677,19636001,19642144,19670287,19672972,19691360,19696792,19708828,19713741,19751749,19771428,19785662,19825807,19842935,19878569,19885582,19890391,19898482,19921266,19924384,19930591,19940551,19956635,19969351,20019844,20035425,20053405,20088606,20130569,20162742,20162743,20182906,20200437,20203106,20207952,20304939,20307139,20332504,20368174,20389299,20421215,20453000,20103600,20705611,20804740,15813675,15811951,15811555,15807535,15801936,15769853,15670731,15625123,15618737,15607361,15598974,15557326,15489334,15475413,15355921,15260487,15251980,15229462,15208643,15170677,15146167,15044468,15027118,15014037,15014021,15001581,14702039,14613996,14576842,14566825,12960109,12874005,12810652,12741957,12682043,12668685,12604403,12576456,12479221,12477932,12459192,12438926,12429862,12393637,12374800,12369998,12208758,12145683,12111378,12054514,11986944,11948115,11807788,11801536,11688982,11590207,11566359,11533706,11309308,11306452,10070941,9892175,8894702,20399185,20562004,20663031,20682644,20705604,20739628,20839930,20858603,20884846,20922799,20959405,20972558,21054463,21072184,15838659,12958161,9850061,18056989,16870176,9861027,19605531,19584153,19546880,19541926,19523815,19514121,19506252,19503597,19474787,19406100,19403814,19367293,19349540,19343046,19277036,19251825,19240161,19232821,19188929,19172464,19167193,19165709,19141860,19139722,19131524,19114588,19107936,19101070,19074750,19063604,19052456,19032367,19023099,18981009,18958403,18951337,18841445,18841444,18838068,18834626,18829547,18824712,18823676,18820285,18806751,18793608,18775442,18725232,18710444,18702307,18695635,18681776,18668433,18644784,18588889,18573883,18559609,18558430,18509645,18430864,18429968,18408567,18392808,18382425,18370855,18309947,18256692,18255023,18249138,18245481,18240903,18237272,18221820,18207572,18200595,18180275,18167504,18159130,18094074,18055445,18042733,17976197,17975119,17938643,17938326,17934801,17925548,17923155,17916067,17875533,17701580,17690695,17686774,17682070,17671398,17662239,17627617,17622941,17595345,17569884,17534875,17519960,17518356,17505995,17494054,17481587,17460607,17445775,17438106,17434155,17380269,17373578,17347325,17340137,17323127,17312388,17297656,17275084,17273774,17237154,17229149,17228519,17148776,17098188,17032904,16960658,16954373,16847575,16815914,16791115,16749862,16707421,16704962,16618113,16612649,16554028,16543472,16528971,16505951,16460798,16445700,16402910,16367905,16343180,16278398,16278376,16160819,16146333,16108826,16086592,16041239,16024622,16008690,15961534,15917307,15906349,15899516,19782739,19782742,20460431,20437864,20570348,20626554,20728430,20492723,20857515,19967559,20171362,20592365 2315573,2315584,2315568,2315569,2315580,2315587,2316977 9429 DQ459612,NM_004827,AC084732,AC097484,AF356348,CH471057,CQ757490,DQ996467,AB051855,AB056867,AF093771,AF093772,AF098951,AF103796,AF463519,AK002040,AK290000,AY017168,AY288307,AY289766,AY333755,AY333756,BC011032,BC021281,BC092408,BI598784,CR621441,DQ459561,DQ459562,DQ459563,DQ459564,DQ459565,DQ459567,DQ459568,DQ459570,DQ459571,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,DQ459609,DQ459610,DQ459611,DQ459613,DQ459614,U66681 NP_004818,AAY40902,AAL35305,EAX06012,EAX06013,CAF32512,ABI97388,BAB46933,BAB39212,AAC97367,AAD09188,AAO14617,BAA92050,BAF82689,AAG52982,AAP31310,AAP44087,AAQ92941,AAQ92942,AAH21281,AAH92408,Q4W5I3,Q8WZ76,Q9UNQ0,ABM83234,ABM86433 Hs.480218 ABC15|ABCP|BCRP|BCRP1|BMDP|CD338|CDw338|EST157481|MGC102821|MRX|MXR|MXR1 ABC transporter|ATP-binding cassette sub-family G member 2|ATP-binding cassette transporter G2|OTTHUMP00000219514|breast cancer resistance protein|mitoxantrone resistance protein|mitoxantrone resistance-associated protein|placenta specific MDR protein|placenta-specific ATP-binding cassette transporter protein-coding 1347632 ABCG3 ATP-binding cassette, sub-family G (WHITE), member 3 10708515,11178751 64007 AF324242 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] 1580863 19913121,20628086,16344560,19948975,16870176,16682745,19343046,18668433,18660489,18508037,16902247,15489334,15240127,12477932,12183068,12137944,11856881,11606068,11435397 64137 NM_022169,NM_001142505,AP002956,AY055472,CH471065,AJ300465,AJ308237,AJ308251,AK289830,AK290035,AK308673,AL137563,BC041091,DA093690,DA241043 NP_071452,NP_001135977,AAL16400,AAL16401,AAL16402,EAW67464,EAW67465,EAW67466,CAC17140,CAC87131,BAF82519,BAF82724,CAB70814,AAH41091,Q8WWH0,Q8WWH1,Q8WWH2,Q9H172,Q9NT30 Hs.126378 WHITE2 ATP-binding cassette sub-family G member 4|ATP-binding cassette, subfamily G, member 4|putative ABC transporter protein-coding 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] 1300331,1580863,1598659,1558629,1598662,1300236 17632509,19019257,19012522,19005228,18996102,18850127,18660489,18641716,18581044,18522623,18457353,18007013,17827468,17690481,17626266,17612515,17403900,17102949,17098593,17055487,16980816,16893193,16614398,16518588,16472606,16250035,15980630,15930516,15816807,15611112,15520451,15311998,15262185,15175352,15121760,14703505,14702039,12477932,12220438,12208868,12208867,12150943,12124998,11907139,11855938,11668628,11590207,20855565,20521169,14504269,17474147,16870176,11099417,19343046,19306529,19270375,19217458,19111681,19060911,11452359,11435688,11138003,9727073,19913121,20581104,20602615,20628086,20679960,19692220,19878569,19917453,19956635,20170916,20172523,20210363,20370913,20403997,20413122,20497293 1300331,1598659,1558629,1598662,1300236 64240 NM_022436,NG_008883,AC011242,AC108476,AF404106,AF404107,CH471053,AF312715,AF320293,AK091997,BC111541,BC111542 NP_071881,AAY14703,AAY24010,AAK85387,AAK85388,EAX00286,EAX00287,EAX00288,AAG53099,AAG40003,AAI11542,Q2T9G2,Q53QN9,Q53T83,Q96QZ2,Q96QZ3,Q9H222,AAI72287 Hs.132992 STSL ATP-binding cassette sub-family G member 5|ATP-binding cassette, subfamily G, member 5|OTTHUMP00000201654|sterolin 1|sterolin-1 protein-coding 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] 1300331,1601097,1580863,631968,1558629,1598662,1601095,1601094,1300237 19170196,19692168,19692220,19878569,20163776,20170916,20172523,20210363,20235787,20370913,20379614,20403997,20413122,20497293,20529992,20854103,21039838,21062971,20581104,20837016,14504269,16870176,11099417,19343046,19306529,19270375,19217458,19111681,19060906,19056482,19019257,19018975,19012522,19005228,18977479,18850127,18676680,18660489,18641716,18581044,18522623,18457353,18007013,17827468,17690481,17632509,17626266,17612515,17403900,17102949,17098593,17055487,16980816,16893193,16518588,16472606,15930516,15816807,15611112,15520451,15331430,15311998,15262185,15175352,14703505,12477932,12220438,12208868,12208867,12150943,12124998,12111378,11893785,11668628,11590207,11452359,20592455,20594224,20679960,19060911 1300331,1601097,631968,1558629,1598662,1601095,1601094,1300237 64241 NM_022437,NG_008884,AC108476,AF351824,AF404106,AF404107,CH471053,AF320294,AF324494,BC113657,BC143564 NP_071882,AAY24011,AAK84663,AAK85386,AAK85389,EAX00285,AAG40004,AAK84078,AAI13658,AAI43565,Q14CR0,Q96A01,Q9H221,ADR83246 Hs.413931 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|atp-binding cassette, sub-family g (white), member 8|sterolin 2|sterolin-2 protein-coding 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] 12735795,15815621,15489334,14702039,12477932,11922611 84696 NM_032604,AC013403,CH471053,AK074615,AK093447,AY033290,BC028378,BC031868,BC039576,BC056403,DB455979 NP_115993,AAX93169,EAX00631,EAX00632,EAX00633,EAX00634,BAG52718,AAK44222,AAH39576,Q96SE0 Hs.375791 FLJ36128|LABH1 OTTHUMP00000200960|abhydrolase domain-containing protein 1|lung alpha/beta hydrolase 1 protein-coding 1346003 ABHD10 abhydrolase domain containing 10 737633,1580863 16381901,15489336,15489334,14702039,12477932,11256614,11076863,20379614,20877624,20562859 737633 55347 AK300018,AL713726,BC014516,CR623900,DB453330,NM_018394,AC060225,CH471052,AK002204 BAA92133,BAH13194,CAD28516,AAH14516,Q9NUJ1,CAL37438,NP_060864,EAW79688,EAW79689 Hs.477115 FLJ11342 OTTHUMP00000214654|abhydrolase domain-containing protein 10, mitochondrial protein-coding 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] 17567985,16381901,15498874,15489336,15489334,12853948,12477932,12073013,11076863,20877624 83451 NR_026912,NM_148912,NM_148913,NR_026910,AC073846,CH471200,NM_001145364,AF412030,AF412031,AF412032,AY053499,AY053500,BC008251,BC011712,BC067750,BG722364,BM557977,BP423415,BP872816,CB998040,DB460434,DR006453,AF217971 NP_001138836,NP_683710,NP_683711,AAS07472,EAW69642,EAW69643,EAW69644,EAW69645,EAW69646,EAW69647,Q8NFV4,CAL37753,CAL38343,ABM82430,ABM85622,AAG17214,AAM62312,AAM62313,AAM62314,AAL14848,AAL14849,AAH08251,AAH11712,AAH67750 Hs.647045 PP1226|WBSCR21 OTTHUMP00000211794|OTTHUMP00000211795|OTTHUMP00000211796|Williams Beuren syndrome chromosome region 21|abhydrolase domain-containing protein 11|williams-Beuren syndrome chromosomal region 21 protein protein-coding 1314604 ABHD12 abhydrolase domain containing 12 16303743,15489334,14702039,12477932,11780052,20797687,17207965 26090 NM_015600,NM_001042472,AL121772,AL353812,CH471133,AK075023,AK290815,AK293495,AL117442,BC014049,BQ672998,BQ961739,CR600960,CR604672,CR612220,CR614685,CR617070,CR624082,CR625101,BQ574269 NP_056415,NP_001035937,CAI23474,CAI23475,CAI13761,CAI13762,CAI13763,EAX10088,EAX10089,EAX10090,BAC11357,BAF83504,BAG56982,CAB55927,AAH14049,Q8N2K0,ADQ32650 Hs.441550 ABHD12A|BEM46L2|C20orf22|DKFZp434P106|PHARC|dJ965G21.2 2-arachidonoylglycerol hydrolase|abhydrolase domain-containing protein 12|chromosome 20 open reading frame 22|monoacylglycerol lipase ABHD12 protein-coding 1349841 ABHD12B abhydrolase domain containing 12B 18029348,15489334,14702039,12477932 145447 NM_181533,NM_181814,AL358334,CH471078,AK057860,AK128464,AY311396,AY311397,AY311398,AY311399,BC034603,BC107141,BC107142 NP_853511,NP_861535,EAW65688,EAW65689,EAW65690,EAW65691,BAC87452,AAP78476,AAP78477,AAP78478,AAP78479,AAH34603,AAI07142,AAI07143,Q7Z5M8 Hs.271896 BEM46L3|C14orf29|MGC129926|MGC129927|c14_5314 abhydrolase domain-containing protein 12B protein-coding 1318018 ABHD13 abhydrolase domain containing 13 18951430,16303743,15489334,15057823,14702039,12477932,19773279 84945 NM_032859,AL157762,CH471085,AK027812,AK075195,AK124864,BC018608,BC022566,BC070226,BQ424339,BX647428,CR597257,CR609193 NP_116248,CAH70630,EAX09097,EAX09098,BAB55387,BAG54109,AAH22566,AAH70226,Q7L211 Hs.183528 BEM46L1|C13orf6|FLJ14906|MGC27058|RP11-153I24.2|bA153I24.2 abhydrolase domain-containing protein 13|chromosome 13 open reading frame 6 protein-coding 1601874 ABHD14A abhydrolase domain containing 14A 15489334,15146197,14667578,12975309,12477932,8889548 25864 NM_015407,AC115284,CH471055,AK308592,AL050015,AY358201,BC002571,BM665207,CN256406 NP_056222,EAW65180,CAB43237,AAQ88568,AAH02571,Q9BUJ0,ACE87593,ACE86906 Hs.334707 DKFZp564O243|DORZ1|FLJ60317|FLJ60467 OTTHUMP00000212482|abhydrolase domain-containing protein 14A protein-coding 1603002 ABHD14B abhydrolase domain containing 14B 16344560,16303743,15489334,14702039,12477932,11053859,8889548 84836 NM_001146314,NR_027476,AC115284,CH471055,CQ783024,CQ783152,CS072398,AK075112,AK092152,AK096073,AK296599,AK298022,AK298813,BC007234,BC050650,BC056411,BC071931,BU732936,CR591374,CR593174,CR594095,NM_032750,CR594176,CR597250,CR601284,CR604040,CR606468,CR607238,CR608753,CR611046,CR611150,CR611183,CR611510,CR612921,CR615577,CR616912,CR620456,CR621320,CR621371,CR622247,CR625207,CR626150,CR626819,DA315486,CS488917 NP_116139,NP_001139786,EAW65178,EAW65179,CAF86231,CAF86358,CAI93536,BAC11408,BAC04696,BAG59212,BAG60325,BAG60946,AAH07234,AAH50650,AAH56411,Q96IU4,CAM55991 Hs.420796 CIB|MGC15429 CCG1-interacting factor B|OTTHUMP00000212469|abhydrolase domain-containing protein 14B|cell cycle gene 1-interacting factor B protein-coding 1605591 ABHD15 abhydrolase domain containing 15 14702039,12975309,12477932 116236 NM_198147,AC104564,CH471159,AK055889,AK056717,AY358212,BC012476 NP_937790,EAW51191,AAQ88579,AAH12476,Q6UXT9 Hs.106510 abhydrolase domain-containing protein 15 protein-coding 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] 1580863 18029348,17980156,16344560,15489334,14702039,12477932,11922611,9373149,8125298,2843827,20007591 11057 NM_007011,NM_152924,AC013565,AC124068,CH471101,AF546700,AI916724,AK000554,AK095685,AK125089,AK127559,AK222841,AK223083,AK290340,AK296827,AL109729,AL110291,BC017905,BC019248,BC090052,BI459790,BI464471,DB024314,DB049736,DC369843,DC397201,X12433,AI918734 NP_008942,NP_690888,EAX02033,EAX02034,EAX02035,AAQ12021,BAD96561,BAD96803,BAF83029,BAG59397,AAH19248,AAH90052,CAA30976,P08910,ABM82555,ABW03395 Hs.122337,Hs.705984 HS1-2|LABH2|MGC111112|MGC26249|PHPS1-2 abhydrolase domain-containing protein 2|alpha/beta hydrolase domain containing protein 2|lung alpha/beta hydrolase 2|protein PHPS1-2 protein-coding 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] 12477932,11922611,9110174,8619474,17207965,16344560,15489334 171586 NM_138340,AC106037,CH471088,AF007152,AK024880,AK024992,BC021196,CR598343,CR605248,DB126083,AK298728,EF444943 ADQ32713,NP_612213,EAX01131,AAC19155,AAH21196,Q8WU67,ACA05928,BAH12858 Hs.397978 LABH3|MGC11259 abhydrolase domain-containing protein 3|alpha/beta hydrolase domain containing protein 3|lung alpha/beta hydrolase 3 protein-coding 1323534 ABHD4 abhydrolase domain containing 4 1580863 18029348,16818490,15489334,14702039,12477932 63874 NM_022060,AL160314,CH471078,AK022878,AK024790,AK293198,AK298127,AK301315,BC024779,CR610790 NP_071343,EAW66251,BAB14289,BAG56738,BAG60407,BAG62866,AAH24779,Q8TB40 Hs.445665 ABH4|FLJ12816 abhydrolase domain-containing protein 4|alpha/beta-hydrolase 4|lyso-N-acylphosphatidylethanolamine lipase protein-coding 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] 1598668,1580863 18832586,18606822,18339307,17631826,17495960,17308334,16679289,15967942,15489334,12477932,11590543,10810093,9110174,8619474,20307695,20520629,15136565,19061969,19401457,20370797 1598668 51099 NM_016006,NG_007090,AC105903,AL606838,CH471055,AF007132,AF151816,AK313811,BC021958,BG721387 NP_057090,CAD12731,EAW64699,AAD34053,BAG36547,AAH21958,Q8WTS1,ABM82101,ABM85283 Hs.19385 CDS|CGI58|IECN2|MGC8731|NCIE2 1-acylglycerol-3-phosphate O-acyltransferase ABHD5|abhydrolase domain-containing protein 5|lipid droplet-binding protein CGI-58 protein-coding 1351429 ABHD6 abhydrolase domain containing 6 16344560,15489334,14702039,12477932,9373149,8125298,18360779,19793082 57406 NM_020676,AC098479,AC137936,CH471055,AF225418,AK122983,AK172797,AK225942,AK313168,BC001698,CR589982,DA266414 NP_065727,EAW65360,EAW65361,EAW65362,EAW65363,EAW65364,EAW65365,AAG09720,BAG53832,BAD18771,BAG35986,AAH01698,Q9BV23,Q9HBL9 Hs.476454 2-arachidonoylglycerol hydrolase|OTTHUMP00000214181|abhydrolase domain-containing protein 6|lipase protein|monoacylglycerol lipase ABHD6 protein-coding 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. 737633,1580863 16344560,15489334,14702039,12477932,9373149,20852631,8125298 737633 79575 EU285559,NM_024527,AC010463,CH471106,AK021805,AK225140,AK225340,AK315366,BC007895,BC011536,BC020173,BC039087,CR603220,CR618792,DA137174,DA357595,AK298251 ABZ79723,Q96I13,NP_078803,EAW84589,BAB13900,BAG37759,AAH07895,AAH20173,AAH39087,BAG60516 Hs.515664 FLJ11743|MGC14280|MGC2512 abhydrolase domain-containing protein 8 protein-coding 1604650 ABI1 abl-interactor 1 The protein encoded by this gene has been found to form a complex with EPS8 and SOS1, and is thought to be involved in the transduction of signals from Ras to Rac. In addition, the encoded protein may play a role in the regulation of EGF-induced Erk pathway activation as well as cytoskeletal reorganization and EGFR signaling. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq] 11516653,15032605,15289329,16055720,16344560,16385451,19158278,19843640,20110575,20193272,8943360,15489334,15164054,15048123,12681507,12672821,12665801,12547160,12522270,12477932,12127568,12011975,11956071,11557983,11418237,11099046,11034908,11003655,10995551,10499589,9694699,1049958,14565974,15696170,9593709,9010225,17101133,18328268,17951403,17943163,17501982,17081983,16899465,16225669,16182283,15893754,15769844,15657136,15591787,19554484,16417406,20479892,20598684 10006 AK315914,DB019974,FJ380057,FJ380058,FJ380059,NM_001178116,NM_001178119,NM_001178120,NM_001178121,NM_001178122,NM_001178123,NM_001178124,NM_001178125,AK298646,BC013238,BC024254,CR622396,U87166,NM_001012751,NM_001012750,NM_005470,AJ277065,AL139404,AL390961,CH471072,AB040151,AB209268,NM_001012752,AF001628,AF006516,AF260262,AF540955,AK126803,AK291823,AK296751 ACJ12783,ACJ12784,ACJ12785,BAH14285,NP_001171587,NP_001171590,NP_001171591,NP_001171592,NP_001171593,NP_001171594,NP_001171595,NP_001171596,BAG59334,BAG60820,AAH24254,AAC39757,Q59G41,Q8IZP0,NP_001012770,NP_001012769,NP_001012768,NP_005461,CAB88006,CAH73112,CAH73113,CAH73114,CAH73115,CAH73116,CAH73117,CAH73118,CAH73119,CAI17272,CAI17273,CAI17274,CAI17275,CAI17276,CAI17277,CAI17278,CAI17279,EAW86077,EAW86078,EAW86079,EAW86080,EAW86081,EAW86082,EAW86083,BAB55675,BAD92505,AAD00897,AAB62569,AAF70309,AAN28379,BAG54374,BAF84512 Hs.508148 ABI-1|E3B1|NAP1BP|SSH3BP|SSH3BP1 Abelson interactor 1|Abl-interactor protein 1 long|OTTHUMP00000019350|OTTHUMP00000019351|abl interactor 1|abl-binding protein 4|ablBP4|eps8 SH3 domain-binding protein|eps8 binding protein|eps8-binding protein|interactor protein AblBP4|nap1 binding protein|nap1-binding protein|spectrin SH3 domain binding protein 1|spectrin SH3 domain-binding protein 1 protein-coding 1351473 ABI1P abl-interactor 1 pseudogene 326268 NG_002531,AL138499 ABI1P|SSH3BP1P pseudo 1353143 ABI2 abl-interactor 2 1580863 7590236,8649853,12011975,11516653,17101133,19158278,18632609,17903303,17389688,16488906,15489334,15146197,14702039,12477932,10995551,10964520,10498863,12463424,10858458,12569093,16189514,15509564 10152 AC018891,AC080075,CH471063,AF085867,AF260261,AK054863,AK294429,AK297537,AK299092,AK299672,AK299679,NM_005759,AK299688,AK299750,AK299824,AK302853,AK316000,AK316343,BC001439,BC033944,BT009920,CN371368,CR606036,DB455742,U23435,U31089,X95632 NP_005750,AAY14675,AAY14935,EAW70335,EAW70336,EAW70337,EAW70338,EAW70339,EAW70340,EAW70341,EAW70342,EAW70343,AAF70308,BAG57674,BAG59937,BAH12947,BAH13098,BAG61587,BAH13103,BAG61640,BAG61693,BAH13822,BAH14371,BAH14714,AAH01439,AAP88922,AAA92289,AAA75446,CAA64885,Q13802,Q53RS4,Q53SH3,Q9NYB9,ABM81661,ABM84833 Hs.471156 ABI-2|ABI2B|AIP-1|AblBP3|SSH3BP2|argBPIA|argBPIB OTTHUMP00000206182|OTTHUMP00000206183|OTTHUMP00000206184|OTTHUMP00000206185|abelson interactor 2|abl binding protein 3|abl interactor 2|abl-binding protein 3|abl-interacting protein 1 (SH3-containing protein)|abl-interactor protein 2b|arg protein tyrosine kinase-binding protein|arg-binding protein 1|argBP1 protein-coding 1323432 ABI3 ABI family, member 3 This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates Rac-dependent actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. [provided by RefSeq] 11501947,11956071,17101133,16381901,16189514,15489336,15489334,12477932,12011975,11230166,11076863,10978530,11256614,19060904 51225 NM_016428,NM_001135186,AC004797,AC069454,CH471109,AA808681,AB037886,AL136709,BC007780,BI768790,CR608488,CR621565 NP_057512,NP_001128658,EAW94687,BAA90667,CAB66644,AAH07780,Q9P2A4,CAL37657,CAL37800,ABM84016,ABM87361 Hs.130719 NESH|SSH3BP3 ABI gene family member 3|ABI gene family, member 3|new molecule including SH3 protein-coding 1349467 ABI3BP ABI family, member 3 (NESH) binding protein 11501947,20936779,12477932,19338757,19240061,18559958,16344560,16205947,15752759,15489334,14702039,21041247 25890 NM_015429,AC068763,AC069223,AC080014,AC093009,AC106721,CH471052,AB056106,AK025204,AK093861,AK123737,AK123748,AK299938,AL117664,AL162038,AL833204,BC030221,BX648726,DA342832 NP_056244,EAW79804,EAW79805,EAW79806,EAW79807,EAW79808,EAW79809,EAW79810,EAW79811,BAB32867,BAB15083,BAG52776,BAC85685,BAC85687,BAG61771,CAB56034,CAI46190,AAH30221,Q5JPC9,Q7Z7G0,Q9H717,ACE87467,ACE86781 Hs.477015 FLJ41743|FLJ41754|NESHBP|TARSH ABI gene family member 3-binding protein|ABI gene family, member 3 (NESH) binding protein|nesh-binding protein|target of Nesh-SH3 protein-coding 1342972 ABL1 c-abl oncogene 1, receptor tyrosine kinase The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronic myelogeneous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11. [provided by RefSeq] 1580863,1598673 20581864,19108887,19075013,19061839,19052872,19048492,19020542,19016792,19001122,18950845,18936177,18827185,18809728,18794796,18784740,18775312,18771174,18765637,18704194,18687796,18619508,18603549,18546844,18538733,18490454,18480061,18480060,18427551,18413724,18406870,18401414,18391983,18369471,18362889,18339898,18305550,18305217,18287094,18262060,18180382,18161990,18095154,18089786,18082628,18059481,18036399,17972958,17943163,17928051,17925491,17893873,17889935,17804707,17768119,17764157,17762503,17761812,17710227,17695727,17638918,17623672,17620332,17604596,17599053,17597804,17587335,17579186,17570524,17541395,17525531,17486070,17470736,17470729,17374743,17366548,17349636,17347407,17339230,17303698,17268511,17252009,17237826,17196995,9144171,8242749,11971963,10391249,12893824,12944467,19442657,19427856,19383348,19332026,19285032,19275932,19260121,19234221,19203793,19180499,19156526,19135771,19124506,17160020,17126298,17101133,17081983,16998483,16966279,2687768,2678002,2542016,2193202,2183353,2163052,1868241,1857987,1538749,1505033,1383690,1379745,1281542,7926767,9820532,8978305,9747873,9006901,11827972,8810278,9774693,10753870,11071635,9008161,12543778,8112292,1712671,11431473,11790798,9071815,9872323,7565761,10608806,8294442,12681507,15886098,15735735,9632788,10571082,20425353,20482842,20633771,20697350,19768693,20974687,17192257,16912036,10945997,8114715,15661746,15657136,15657060,15626746,15608616,15591787,15588985,15583852,15542838,15481444,15361874,15175272,15143187,14993251,14966468,14745431,14679214,14670960,14657955,14581377,14534537,14527680,12952226,16899465,16867995,16678104,16636310,16630659,16543148,16448696,16410245,16386788,16205638,16199863,16158059,16151465,16091742,16014719,15961388,15857938,15735728,15723338,15716990,15696159,15686624,12928501,12921956,12890867,12824179,12810679,12781448,12777400,12777393,12764153,12672821,12665579,12663457,12654250,12650908,12637538,12623848,12573241,12569093,12560071,12556557,12525554,12522270,12505259,12477932,12475393,12468540,12445832,12408765,12393636,12384576,12379650,12374739,12374288,12220663,12198159,12149456,12144533,12138893,12130516,12110584,12024016,12021275,11956190,12950161,12130510,11955625,11891774,11853795,11840343,11781820,11780146,11741929,11708318,11598012,11593427,11509666,11494134,11494128,11423618,11420673,11418237,11390389,11380621,11375976,11374898,11350980,11309382,11279131,11278340,11266449,11163214,11121037,11120811,11024037,11021760,10988075,10970852,9516488,9480911,9461559,9407116,9356459,9334312,9315092,9312071,9211900,9168117,9168116,9111318,9067577,9010225,8943360,8879209,8875975,8692915,8668151,8668148,8630736,8629002,8590002,8453102,8438166,9583676,8194526,10892742,10849448,10777567,10713716,10708759,10679771,10637231,10635328,10629029,10574931,10567556,10488096,10455176,10391251,10391250,10212258,10194451,10187839,9949177,9798959,9698566,9642287,9632734,9603926,9593709,10896159,7892170,7828850,7780740,7760813,7665185,7590236,7545908,7533294,7512963,7493940,6323103,6319012,6316147,6302194,6281890,6191223,4062888,3471171,3313010,3023859,3021337,2989703,2989692,2825022,12626632,19697154,20367437,20595523,20563669,10837221,12107171,12379115,14725908,16219545,16648821,16831423,16888623,17129785,17254966,17474147,17888034,17956664,18280240,18614052,19261608,19295548,19357699,19363261,19369965,19423701,19542604,19557636,19571320,19608682,19625707,19643477,19652056,19657362,19658100,19660459,19679652,19724931,19738611,19789182,19829692,19833721,19876398,19897486,19906645,19914245,19954044,20007699,20010464,20038234,20056178,20073070,20079431,20082857,20124512,20152788,20201926,20234815,20453000,20512393,20585028,20629032,20598684,20697894,20823226,15923648,19968720,20717963,20724541,20937825,18029348,20452982 1598673 25 NM_007313,NM_005157,NG_012034,AL161733,AL359092,CH471090,DQ145721,K00009,M13099,M25949,S69223,U07563,AA524892,AB209456,AB209642,AF113911,AJ131466,AK294983,AL707819,BC107069,BC107070,BC117451,CA335983,CR598308,CR614023,M14752,M14753,M14754,M25946,M30833,X16416 Q3B837,Q59F19,Q59FK4,BAG58052,Q3B836,NP_009297,NP_005148,CAM45754,CAM45755,CAM45756,EAW87947,EAW87948,EAW87949,AAZ38718,AAA51895,AAA51896,AAA35593,AAD14034,AAB60393,AAB60394,BAD92693,BAD92879,AAD04633,CAA10376,AAI07070,AAI07071,AAI17452,AAA51561,AAA51562,AAA51563,AAA35697,AAA88011,AAA88012,CAA34438,P00519,Q13688,Q13689,Q13690,Q13691,Q13848,Q13914,Q13915,Q14020 Hs.431048 ABL|JTK7|bcr/abl|c-ABL|p150|v-abl bcr/c-abl oncogene protein|c-abl oncogene 1, receptor tyrosine kinase|proto-oncogene c-Abl|proto-oncogene tyrosine-protein kinase ABL1|tyrosine-protein kinase ABL1|v-abl Abelson murine leukemia viral oncogene homolog 1|v-abl abelson murine leukemia viral oncogene homolog 1 protein-coding 1352263 ABL2 v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinase. The protein is highly similar to the ABL1 protein, including the tyrosine kinase, SH2 and SH3 domains, and has a role in cytoskeletal rearrangements by 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 ETV6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq] 1580863 15886098,17474147,12893824,2198571,19275932,18810762,18660502,17192257,17081983,9774693,15735735,20150913,20936779,16710414,16678104,16344560,15765532,15729383,15679048,15489334,14702039,12950161,12777400,12748290,12569093,12522270,12477932,12406085,12374288,12220663,12198159,11956190,11494128,11278261,10706884,10590083,10521789,9642287,9480911,9373149,9211900,8875975,8700546,8125298,3787260,1383690,10892742,20077570,20448119,19913121,20628086,20800603 27 NM_007314,NM_005158,NM_001136000,NM_001136001,AL139132,AL359179,AL512326,CH471067,DQ009672,M14904,AK025877,AK056280,AK225255,AK309549,AK311045,BC065912,BQ014912,BX538317,DA596675,DB280398,FJ542283,FJ542284,FJ542285,FJ542286,M35296,NM_001168236,NM_001168237,NM_001168238,NM_001168239 NP_009298,NP_005149,NP_001129472,NP_001129473,CAH70921,CAH70925,CAI15584,CAI15585,CAI13566,CAI13570,EAW91040,EAW91041,AAY16984,AAH65912,ACK76601,ACK76602,ACK76603,ACK76604,AAA35553,P42684,NP_001161708,NP_001161709,NP_001161710,NP_001161711 Hs.159472 ABLL|ARG|FLJ22224|FLJ31718|FLJ41441 Abelson murine leukemia viral (v-abl) oncogene homolog 2|Abelson-related|OTTHUMP00000033140|OTTHUMP00000218101|OTTHUMP00000218102|OTTHUMP00000218103|OTTHUMP00000218104|OTTHUMP00000218106|OTTHUMP00000218107|OTTHUMP00000218108|abelson murine leukemia viral oncogene homolog 2|abelson-related gene protein|arg tyrosine kinase|tyrosine-protein kinase ABL2|tyrosine-protein kinase ARG|v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) 2292936,2293000 PRSTS118_H,PRSTS117_H protein-coding 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] 1580863 16385451,20936779,9245787,16189514,17081983,16094384,15592455,15570572,15489334,15324660,15302935,15144186,15024025,14702039,12477932,12168954,9417918,8889548,7584044,7566098,15778465,20970119,16712791,20549515 3983 AK297344,NM_001003408,NM_002313,NM_006720,AL133384,AL354873,AL590109,CH471066,AA314019,AF005654,AI680726,AK054890,AK057834,AK058007,AK093471,AK098277,AK122891,AK298709,AL600892,AL710059,AL712271,AW627433,BC002448,BE395092,BE672277,BG426037,NM_001003407,BQ721521,CA450184,CB128609,CD558045,CR749819,D31883 BAH12557,NP_001003407,NP_001003408,NP_002304,NP_006711,CAI40131,CAI40132,CAI40133,CAI40134,CAI40135,CAI40136,CAI40137,CAI40140,CAI40141,CAI10906,CAI10907,CAI10908,CAI10909,CAI10910,EAW49467,EAW49468,EAW49469,AAC51676,BAG52725,BAG53605,BAG53784,BAG60865,AAH02448,CAH18679,BAA06681,O14639,Q5JVU6,Q5JVV0,Q5JVV2,Q5T6N2,Q5T6N6 Hs.438236,Hs.538331,Hs.593868 ABLIM|DKFZp781D0148|FLJ14564|KIAA0059|LIMAB1|LIMATIN|MGC1224 LIM actin-binding protein 1|OTTHUMP00000020532|OTTHUMP00000020533|OTTHUMP00000020534|OTTHUMP00000020535|OTTHUMP00000020537|abLIM-1|actin-binding LIM protein 1|actin-binding LIM protein family member 1|actin-binding double zinc finger protein|actin-binding double-zinc-finger protein protein-coding 1349528 ABLIM2 actin binding LIM protein family, member 2 20379614,17194709,16005990,15489334,14702039,12477932,11347906,10737800,9847074,8889548,18029348,20936779 84448 NM_001130086,NM_001130085,NM_001130084,NM_001130083,NM_001130087,NM_001130088,AC097381,AC104650,AC114807,CH471131,AB058711,AJ748600,AJ748601,AK094754,AK094798,AK097003,AK130044,AK301060,AL834195,BC067214,BC122567,BE155865,BM718728,BQ005420,BQ267829,DB499366,NM_032432,DB570494,DQ413176,DQ413177 NP_115808,NP_001123558,NP_001123557,NP_001123556,NP_001123555,NP_001123559,NP_001123560,AAY40931,EAW82357,EAW82358,BAB47437,CAG38375,CAG38376,BAC04414,BAC04427,BAC85284,BAH13400,CAD38885,AAH67214,AAI22568,ABD83329,ABD83330,Q08E71,Q19VH0,Q19VH1,Q4W5G4,Q6H8Q1,Q6ZP41 Hs.233404 DKFZp761F129|FLJ26534|FLJ39684|KIAA1808|MGC141918 OTTHUMP00000217347|abLIM-2|actin binding LIM protein 2|actin-binding LIM protein 2|actin-binding LIM protein family member 2 protein-coding 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] 1580863 17194709,17081983,16381901,16328021,15489336,15489334,15342556,15337165,15221005,12477932,11230166,11076863,10048485,9373149,8125298 22885 NM_014945,AC012613,AC091940,CH471062,AB020650,AB075881,AK098469,AK225769,AK289736,AL833021,BC001665,BC014463,BP285049,DQ413174 NP_055760,EAW61788,EAW61789,EAW61790,EAW61791,EAW61792,BAA74866,BAD38663,BAF82425,CAH56270,AAH01665,ABD83327,O94929,CAL37473,CAL37581,CAL37722,CAL37724,CAL37743,CAL37768,CAL37808,CAL37810,CAL37841,CAL37876,CAL37977,CAL37979,CAL37994,CAL38031,CAL38039,CAL38101,CAL38162,CAL38196,CAL38279,CAL38290,CAL38300,CAL38309,CAL38401,CAL38431,CAL38436,CAL38440,CAL38531,CAL38534,CAL38558,CAL38598,CAL38631,CAL38668,CAL38695,CAL38283 Hs.49688 HMFN1661 OTTHUMP00000223934|OTTHUMP00000223936|OTTHUMP00000223937|abLIM-3|actin-binding LIM protein 3|actin-binding LIM protein family member 3 protein-coding 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] 1580863,2317512,2317510 19278955,19276450,19169360,19078892,19054377,18940312,18712158,18680548,18651204,18604267,18600088,18521502,18464913,18426679,18387978,18273824,18247104,18215251,18173836,18156754,18078207,18067502,18067076,18063521,18028481,18027815,18003641,17994314,17764507,17642512,17531777,17393014,17311872,17298125,17259183,17209060,17140342,17130965,17119126,17107352,17076855,17036929,17002642,16956829,16871363,16859949,16722361,16686845,16631357,16403294,16239542,16215642,16181218,16176058,16081582,16008680,15987364,15880137,15847653,15819691,15819453,15783300,15754970,15751650,15735796,15648786,15606555,15300625,15166945,15104652,15009807,14979340,14750174,14617382,14569463,14516453,12829588,12786998,12760254,12673421,12587416,12560669,12529355,12519432,12477932,12198488,12151392,11998221,11961233,11939260,11856466,11520811,11436564,11398963,11345596,11061869,10666229,10462501,9800297,9325321,9175793,8928487,8873422,8839869,8641696,8484250,8456556,7779106,7772867,7598760,7488159,6770676,5442829,4831233,4831223,2333095,2121736,2104828,2104827,1520322,1449469,1429528,618875,184030,20139978,20456702,20576794,20197725,16686846,19110300,19470260,19474452,19490215,19648918,19729612,20003128,20017223,20066004,20103627,20147318,20167578,20181960,20231535,20371059,20373852,20459687,20514537,20529992,19913121,20154292,20532885,20628086,20648472,20666915,20677133,20971884 2317512,2317510 28 AJ536134,AJ536135,AJ536136,AJ536137,AJ536138,AJ536139,AJ536148,AJ536150,AJ536152,AJ536153,AJ920329,AJ973608,AL158826,AL732364,AM040939,AM231715,AM423110,AM492698,AY268591,AY336599,AY373436,AY377125,AY442168,AY510089,AY512679,AJ536132,EU366315,FR691751,FR691752,AL772161,GU169167,GU169168,GU169169,GU169170,GU169171,GU169172,GU169173,GU199604,GU199605,GU592505,GU592506,GU592507,NG_006669,AB052641,AB052642,AB052643,AB052644,AB052650,AB052651,AB180254,AB180256,AB180257,AB180258,AB180259,AB180260,AB180261,AB180262,AB180263,AB180264,AB180265,AB180266,AB180267,AB180268,AC000397,AF006673,AF016622,AF016624,AF016625,AF062486,AF062487,AF134418,AF134420,AF134422,AF134424,AF134426,AF134428,AF134430,AF134432,AF134434,AF134440,AF170888,AF170889,NM_020469,AF324018,AF324019,AF324020,AF408431,AF448199,AF448200,AJ276686,AJ276687,AJ276688,AJ276689,AJ426048,AJ426063,AJ426064,AJ536122,AJ536123,AJ536124,AJ536125,AJ536126,AJ536127,AJ536128,AJ536129,AJ536130,AJ536131,AF170892,AF170893,AF182746,AF182747,AF182749,AF324006,AF324007,AF324008,AF324009,AF324010,AF324011,AF324012,AF324013,AF324014,AF324015,AF324016,AF324017,AY590127,AY611640,AY611641,AY720844,AY720850,AY720852,AY805749,AY805750,CH471090,D82835,D82836,D82837,D82838,D82839,D82840,D82841,D82842,D82843,D82844,D82845,DQ092379,DQ092380,DQ092381,DQ100313,DQ124678,DQ124679,DQ321372,DQ321373,DQ323500,DQ323501,AY513233,DQ323502,DQ323503,DQ407740,FJ599810,U15198,U22302,X84746,AF134412,AF134413,AF134414,AF134415,AF134416,AK302203,AV761252,AY579471,AY727862,BC069595,BC069605,BC069814,BC111575,DQ139865,J05175,S44054,U15197,FJ851691,FJ851692 CAD60219,CAD60221,CAD60222,CAD60223,CAD60224,CAD60225,CAD60226,CAD60235,CAD60237,CAD60239,CAD60240,CAI79116,CAJ00555,CAJ13827,CAJ77763,CAM28424,CAM34526,AAP03430,AAP97075,AAR20996,AAR24575,AAS00500,AAR98522,AAS16482,Q56S55,Q5VJ25,Q679L5,Q67BB2,Q6IS73,Q6L635,Q6L636,Q6L637,Q6L638,Q6L639,Q6L640,Q6L641,Q6L643,Q6L644,Q6L645,Q6L647,Q6L648,Q6LCV2,Q6PNN6,Q6R5A7,Q6R5J3,Q6R675,Q70V10,Q70V12,Q70V13,Q70V15,Q70V16,Q70V22,Q70V24,Q70V25,Q70V26,Q70V29,Q70V31,Q70V32,Q70V33,Q70V35,Q70V37,Q70V39,Q70V41,Q7LCZ1,Q7Z535,Q8N3W8,Q8NFW0,Q8WWJ1,Q8WXY5,Q8WXY6,Q8WXY7,Q8WXY8,Q8WXY9,Q8WXZ0,Q8WXZ1,Q8WXZ2,Q8WXZ3,Q8WXZ4,Q8WXZ5,Q8WXZ6,Q8WXZ7,Q99477,Q99478,Q99479,Q99480,Q99481,Q99482,Q99483,Q99486,Q99488,Q9BQ97,Q9C087,Q9C088,Q9C089,Q9C090,Q9NPA6,Q9NY02,Q9UBW4,Q9UIR1,Q9UK42,Q9UMY7,Q9UMY8,Q9UP69,Q9UP70,Q9UQ62,Q9UQ63,Q9UQ64,Q9UQ65,Q9UQ66,Q9UQ67,CBX20982,CBX20983,ADP08988,ADP08989,ADP08990,ADP08991,ADP08992,ADP08993,ADP08994,ADP08995,ADP08996,ADP08997,ADP08998,ADP08999,Q9UMY6,NP_065202,BAB32654,BAB32655,BAB32656,BAB32657,BAB32658,BAB32659,BAD20714,BAD20715,BAD20716,BAD20717,BAD20718,BAD20719,BAD20720,BAD20721,BAD20722,BAD20723,BAD20724,BAD20725,BAD20726,BAD20727,AAB69195,AAB86462,AAB86464,AAB86465,AAC99327,AAC99328,AAD26575,AAD26576,AAD26577,AAD26578,AAD26579,AAD26580,AAD26581,AAD26582,AAD26583,AAD26584,AAD51648,AAL37350,AAL37351,AAL37352,AAN02512,AAQ04662,AAQ04663,CAB81776,CAB81777,CAB81778,CAB81779,CAD22451,CAD19818,CAD19819,CAD60209,CAD60210,CAD60211,CAD60212,CAD60213,CAD60214,CAD60215,CAD60216,CAD60217,CAD60218,AAL37349,AAD51651,AAD51652,AAF07060,AAF13183,AAF13184,AAL37338,AAL37339,AAL37340,AAL37341,AAL37342,AAL37343,AAL37344,AAL37345,AAL37346,AAL37347,AAL37348,AAD51649,AAR97889,AAT01605,AAW31606,AAW31607,AAX58609,AAX58612,AAX58613,AAX39008,AAX39009,EAW88054,BAA11584,BAA11585,BAA11586,BAA11587,BAA11588,BAA11589,BAA11590,BAA11591,BAA11592,BAA11593,BAA11594,AAY98421,AAY98422,AAY98423,AAZ28944,AAZ32763,AAZ32764,ABC59309,ABC59310,ABC41115,ABC41116,ABC41117,ABC41118,ABD66591,ACN23166,AAC13777,AAC50121,CAA59233,AAD26572,AAD26573,AAD26574,BAG63563,AAT90439,AAU93390,AAH69595,AAH69814,AAI11576,AAZ67147,AAA36792,AAB23167,AAD14781,O14759,O15512,P16442,Q102J2,Q15951,Q207T9,Q2LFC5,Q2LFC6,Q2PJQ0,Q2PJQ1,Q2PJQ2,Q2PJQ3,Q2VU69,Q2VU70,Q3ZMG8,Q45FB1,Q45L90,Q45L91,Q4JGX0,Q4JGX1,Q4JGX2,Q4LAQ2,Q4VVG1,Q4VY24,Q538Y8,Q538Y9,Q56S51,Q56S52,Q56S53,ABY67384,ACP27632,ACP27633 Hs.654423 A3GALNT|A3GALT1|GTB|NAGAT ABO glycosyltransferase|B(A) alpha-1,3-galactosyltransferase|fucosylglycoprotein 3-alpha-galactosyltransferase|fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase|glycoprotein-fucosylgalactoside alpha-galactosyltransferase|histo-blood group A transferase|histo-blood group A2 transferase|histo-blood group ABO system transferase|histo-blood group B transferase protein-coding 732341 ABP1 amiloride binding protein 1 (amine oxidase (copper-containing)) This gene encodes a membrane glycoprotein that is expressed in many epithelium-rich and/or hematopoietic tissues and oxidatively deaminates putrescine and histamine. The protein may play a role in controlling the level of histamine and/or putrescine in these tissues. It also binds to and is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. [provided by RefSeq] 1298636,1300048,2315591,2312809,1580863 8144586,1356107,17985251,17700358,17651147,16489678,15928835,15830186,15489334,14755492,14715500,14702039,12755416,12690205,12477932,12419186,11855874,11603849,10660106,8829374,8645981,8595053,8396495,8195119,8182053,7806511,2227949,2217167,1898707,12913069,19670078,19701972,19764817,20062061,20124708,20602615,21040557 1298636,2315591,2312809 26 NM_001091,AACC02000108,AC006343,AY948960,CH471173,X78212,AK092514,AK296638,AK314806,BC014093,BX648159,CR592378,CR596790,CR598361,CR600605,CR601090,CR602032,CR603421,CR608165,CR610042,CR611479,CR615931,CR615995,CR617118,CR617395,CR618888,CR621626,CR622987,CR624494,CR625394,CR626724,M55602,U11862,U11863 NP_001082,EAL24490,AAX81409,EAW54081,EAW54082,EAW54083,EAW54084,EAW54085,EAW54086,EAW54087,CAA55046,BAG52564,BAG59239,AAH14093,AAA58358,AAC50270,AAB60381,P19801,Q9HBM7 Hs.647097 ABP|AOC1|DAO|DAO1|KAO OTTHUMP00000212762|OTTHUMP00000212763|OTTHUMP00000212764|amiloride binding protein 1|amiloride-binding protein-1|amiloride-sensitive amine oxidase|amiloride-sensitive amine oxidase [copper-containing]|diamine oxidase|histaminase|kidney amine oxidase protein-coding 1314808 ABR active BCR-related gene 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, suggesting that Rho-related GTPases help coordinate motor skills and balance. Alternatively spliced transcript variants that encode different isoforms have been reported for this gene. [provided by RefSeq] 1580863 8262969,17474147,15525470,14702039,12621583,11921339,8889548,8349582,7829075,7479768,2587217,16341674,16712791,11756498,12376548,12477932,12787561,20379614 29 AK307827,BC036807,BC141909,BM827672,CB153196,CF135918,CR624267,U01147,NM_021962,NM_001092,NG_011987,NM_001159746,AC015884,AC016292,CH471108,L19704,L19705,AI763107,AK094544,AK124547,AK126882,AK127851,AK295191,AK299909,AK300336,AK302682 AAC50063,Q12979,Q6ZT60,AAI56484,AAI72517,NP_068781,NP_001083,NP_001153218,EAW90631,EAW90632,EAW90633,EAW90634,EAW90635,AAC37519,AAC37518,BAG54051,BAC86734,BAH12006,BAH13169,BAH13263,BAH13777 Hs.159306 FLJ45954|MDB active breakpoint cluster region-related protein protein-coding 1603582 ABRA actin-binding Rho activating protein 11256614,19255118,17415416,16381901,15798203,15489336,15489334,14702039,12477932,11983702,11230166,11076863 137735 NM_139166,AC023344,CH471060,AF503617,AK092694,AL832152,AL833422,BC105103,BC105105 NP_631905,EAW91907,AAM27268,BAC03948,AAI05104,AAI05106,Q8N0Z2,CAL37941 Hs.374668 STARS actin-binding Rho-activating protein|striated muscle activator of Rho-dependent signaling protein-coding 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] 1580863 10648625,15635413,15489334,14574404,12477932,11790298,18482256,19299493 29777 NM_013375,AL513548,CH471087,CS300635,AB027258,BC048812,BC066313,CR590058,CR596997,CR603288,CR606133,CR609958,CR613442,CR615011,CR617743,CR622480 NP_037507,CAC40824,EAW55591,EAW55592,EAW55593,CAK32299,BAA86886,AAH48812,AAH66313,Q9ULW3,ABZ92324 Hs.254406 hABT1 TATA-binding protein-binding protein|activator of basal transcription 1|basal transcriptional activator protein-coding 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 encoding different isoforms. [provided by RefSeq] 1580863 18029348,18459963,18429817,15498874,15489334,15231748,14702039,12477932,11494141,10891360,8889548 80325 NM_172027,AC023593,CH471052,AB053324,AB053325,AB053326,AF297986,AF447886,AK090422,AK090509,AK098738,AK130594,AK315148,BC011858,AI337369,BF664138,BM671027,NR_033428,NR_033429 NP_742024,EAW79333,EAW79334,EAW79335,EAW79336,BAB55648,BAB55649,BAB55650,AAK57478,AAQ04661,BAC03403,BAC85392,BAG37596,AAH11858,Q8NF57,Q969K4 Hs.107812 BPOZ|BTB3|Btb3|EF1ABP|MGC20585|PP2259 OTTHUMP00000216044|ankyrin repeat and BTB/POZ domain-containing protein 1|elongation factor 1A binding protein|elongation factor 1A-binding protein protein-coding 733617 ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 1580863 18429817,15489334,14702039,12477932,18459963,20379614 25841 NM_145804,AC090469,AL035079,AL133294,AL139174,CH471064,AK056863,AK091560,AK095632,AK291744,AL050374,BC093968,BX640841 NP_665803,EAW68172,EAW68173,BAG51818,BAC03697,BAC04595,BAF84433,AAH93968,CAE45913,Q8N961 Hs.23361 DKFZp586C1619 ankyrin repeat and BTB/POZ domain-containing protein 2 protein-coding 69012 ACAA1 acetyl-Coenzyme A 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] 2313044,1300048,1580863 18281296,10231028,9110174,8619474,7750978,3194209,2882519,2726492,2630187,1679347,18029348,16385653,15489334,14621081,12477932,11418601,10960480,16756494,19423540,20406964,20438785,19913121,20628086,20877624,21048031 2313044 30 NM_001130410,NM_001607,AP006309,CH471055,X65140,X65148,AF035295,AK025138,AK127051,AK293716,AK301056,AK303251,AK316551,BC000635,BC011977,BC014474,NR_024024,BC025780,BC039837,CR591578,CR594169,CR595862,CR598152,CR600577,CR603602,CR605477,CR607199,CR607231,CR608061,CR609571,CR610044,CR610125,CR612027,CR612253,CR612814,CR613357,CR618847,CR625217,CR625245,CR626439,CR626521,DC312566,DC379687,X12966,X14813,X51460,NG_023225 NP_001123882,NP_001598,EAW64513,EAW64514,EAW64515,EAW64516,EAW64517,EAW64518,CAA46270,CAA46271,AAB88181,BAG57147,BAG62666,BAG64334,BAG65629,AAH00635,AAH11977,AAH14474,CAA31412,CAA32918,CAA35825,O43203,P09110,Q8NCW8,Q96CA6,ABM82224,ABM84272,ABM85408 Hs.643487 ACAA|PTHIO|THIO 3-ketoacyl-CoA thiolase, peroxisomal|OTTHUMP00000209180|OTTHUMP00000209821|OTTHUMP00000209822|acetyl-Coenzyme A acyltransferase 1|beta-ketothiolase|peroxisomal 3-oxoacyl-CoA thiolase|peroxisomal 3-oxoacyl-Coenzyme A thiolase protein-coding 733990 ACAA2 acetyl-Coenzyme A 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] 1580863,2317624 20571754,20679960,8241273,18371312,18193044,15489334,15242332,14702039,12477932,10856712,9373149,8125298,20877624,20972250 2317624 10449 NM_006111,AC090227,CH471096,AK054673,AK093311,AK225457,AK314462,BC001918,CR599438,CR599578,CR602624,CR603122,CR607062,CR610172,CR622129,CR626652,D16294 NP_006102,EAW62950,EAW62951,EAW62952,EAW62953,EAW62954,EAW62955,EAW62956,BAG51410,BAG37070,AAH01918,BAA03800,P42765,ABM84302,ABM87696 Hs.200136 DSAEC|FLJ35992|FLJ95265 3-ketoacyl-CoA thiolase, mitochondrial|T1|acetyl-Coenzyme A acyltransferase 2|beta ketothiolase|beta-ketothiolase|mitochondrial 3-oxoacyl-CoA thiolase|mitochondrial 3-oxoacyl-Coenzyme A thiolase protein-coding 736015 ACACA acetyl-Coenzyme A 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] 1580863,1300332,1625727,1300238,1300048,2317316,2317309 8944226,20139635,20457939,7905825,16326698,19061860,18996102,18660489,18614968,18614941,18487259,18455495,18452305,18056116,18031993,17631500,17521700,17372234,17081983,16713569,16698035,15607423,15333468,15302935,14643797,12810950,12477932,12360400,11052978,10737800,10677481,7915280,7907095,20562859,7732023,2906852,2900140,2900138,16169070,16794074,19343720,19543203,19710915,19723093,19846279,20379614,19913121,20602615,20628086,20877624,20965718 1300332,1625727,1300238,2317316,2317309 31 NG_023295,NM_198834,NM_198839,NM_198836,NM_198837,NM_198838,AC003103,AC016482,AC068400,AY315616,AY315617,AY315618,CH471199,AB209325,AB371587,AJ534888,AJ534889,AJ564444,AK129523,AK295586,AK295735,AK295805,AK296368,AK301579,AK308905,AK309084,AK309424,AK311329,AY237919,AY315619,AY315620,AY315621,AY315622,AY315623,AY315624,AY315625,AY315626,AY315627,BC031485,BC041598,BC137287,BF154865,CF454424,CR598320,CR607505,CR614552,CR626022,U19822 NP_942131,NP_942136,NP_942133,NP_942134,NP_942135,AAP94113,EAW57576,EAW57577,EAW57578,EAW57579,EAW57580,EAW57581,EAW57582,EAW57583,BAD92562,BAG48316,CAD59556,CAD59557,CAD92089,BAG58478,BAG58574,BAG58623,BAG59043,BAG63071,AAP69841,AAP94114,AAP94115,AAP94116,AAP94117,AAP94118,AAP94119,AAP94120,AAP94121,AAP94122,AAH31485,AAI37288,AAC50139,Q13085,Q59FY4,Q7Z562,Q7Z565,Q7Z5W8 Hs.160556 ACAC|ACC|ACC1|ACCA ACC-alpha|acetyl-CoA carboxylase 1|acetyl-CoA carboxylase-alpha|acetyl-Coenzyme A carboxylase alpha protein-coding 731908 ACACB acetyl-Coenzyme A 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] 1304207,1300048,1580863,1300333,1625727,1300239 19190759,19034549,18996102,18455495,18031993,17521700,17223360,16854592,15590647,14627750,12477932,12413941,12086953,10677481,9284908,9099716,8876158,8670171,20139635,20514549,16054041,18029348,15060529,19390150,14532170,14613924,16794074,19618481,19846279,19900410,20168990,20379614,20468064,20519229,9148944,11257506,20599696,20602615,20799892,20855566,20877624,20965718 1304207,1300333,1625727,1300239 32 NM_001093,AC007637,CH471054,AB209110,AJ575431,AJ575592,AK302469,AK302502,AK307466,AY382667,BC009753,BC028417,CB269093,CB269579,CR626281,DB567934,DQ493870,R99037,U34591,U89344 NP_001084,EAW97852,EAW97853,EAW97854,EAW97855,BAD92347,CAE01470,CAE01471,BAG63759,BAG63782,AAR37018,AAH28417,ABF48723,AAC50571,AAB58382,O00763,Q4G170,Q59GJ9,AAI72264,AAI72569 Hs.234898 ACC2|ACCB|HACC275 ACC-beta|acetyl-CoA carboxylase 2|acetyl-Coenzyme A carboxylase beta 1643258,1643266,1643270,1643277,2289628,2289630,2289632 BW205_H,BW201_H,BW198_H,BW203_H,BW500_H,BW501_H,BW502_H protein-coding 1346668 ACAD10 acyl-Coenzyme A 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] 18950845,16344560,15560374,15197164,14702039,12477932,20877624,20379614,20390405 80724 BC054886,BC126358,CA419108,CF272632,CR591627,DA146693,NM_001136538,AC002996,CH471054,AK092356,AK097425,AK310923,AL832043,AY323912,BC003698,BC015056,NM_025247 AAI26359,Q6JQN1,AAH15056,NP_079523,NP_001130010,EAW97961,EAW97962,EAW97963,EAW97964,EAW97965,EAW97966,EAW97967,EAW97968,EAW97969,EAW97970,EAW97971,BAC03869,BAC05046,AAQ88260 Hs.331141 MGC5601 ACAD-10|acyl-CoA dehydrogenase family member 10|acyl-Coenzyme A dehydrogenase family, member 10 protein-coding 1604580 ACAD11 acyl-Coenzyme A dehydrogenase family, member 11 14561759,16344560,15489334,14702039,12477932,12056414,19423540,20237496,20406964,20438785,20877624 84129 NM_032169,AC020632,CH471052,AI091999,AJ608287,AK022654,AK131265,AK308380,AL832873,AL833721,BC019607,BC125204,BC125205,CR596046,CR611845,DA804241,AK298627,HH961824 NP_115545,EAW79193,EAW79194,EAW79195,CAE55233,BAB14158,BAD18443,CAH56354,CAH56228,AAH19607,AAI25205,AAI25206,Q08AE9,Q709F0,BAG60803,CBX51385 Hs.441378 ACAD-11|FLJ12592|MGC150619 ACAD-11|acyl-CoA dehydrogenase family member 11|acyl-Coenzyme A dehydrogenase family, member 11|putative acyl-CoA dehydrogenase protein-coding 1344764 ACAD8 acyl-Coenzyme A dehydrogenase family, member 8 Isobutyryl-CoA dehydrogenase (EC 1.3.99), encoded by the ACAD8 gene, catalyzes the third step of the degradation of the branched chain amino acid valine (Nguyen et al., 2002 [PubMed 12359132]).[supplied by OMIM] 1580863 10524212,15489334,14752098,14702039,12477932,12359132,11013134,10235267,17387528,16806233,20877624 27034 AK299795,NM_014384,AF260689,AP000859,CH471065,AB209538,AF126245,AK000359,AK026243,AK074640,AK125373,AK299492,AK301921,AK303569,AK309051,AK309838,BC001964,BI549961,CR608679,NG_015842 NP_055199,AAF97922,EAW67833,EAW67834,EAW67835,BAD92775,AAF12736,BAA91109,BAC11107,BAC86149,BAH13050,BAH13130,BAH13587,BAH13987,AAH01964,Q59FC2,Q6ZUS0,Q6ZWP6,Q9UKU7,ABM82019,ABM85201 Hs.14791 ACAD-8|ARC42|FLJ22590 activator-recruited cofactor 42 kDa component|acyl-Coenzyme A dehydrogenase family, member 8|isobutyryl-CoA dehydrogenase, mitochondrial protein-coding 1348095 ACAD9 acyl-Coenzyme A dehydrogenase family, member 9 Mitochondrial fatty acid beta-oxidation is one of the main energy-producing metabolic pathways in eukaryotes. Acyl-CoA dehydrogenases (ACADs; EC 1.3.99.13) are mitochondrial enzymes that catalyze the initial rate-limiting step in the beta-oxidation of fatty acyl-CoA. ACAD9 belongs to a group of ACADs that act on fatty acids containing 14 to 20 carbons (Zhang et al., 2002 [PubMed 12359260]).[supplied by OMIM] 1580863,2317589 17672918,20929961,18385088,17564966,16750164,16344560,16020546,15489334,14702039,12971426,12477932,12359260,20877624,21057504,11256614,19615732,20816094 2317589 28976 NM_014049,AC112484,CH471052,AB209427,AF078854,AF327351,AK022568,AK024012,AK027186,AK130311,AK294597,AK297952,AK310644,BC001817,BC007970,BC013354,BC041572,CR613592,CR615785,DA630022,NG_017064,NR_033426 NP_054768,EAW79293,EAW79294,EAW79295,EAW79296,BAD92664,AAD44486,AAL56011,BAB14104,BAB14775,BAG57785,BAG60267,AAH01817,AAH07970,AAH13354,Q59FN3,Q9BUX5,Q9H845,Q9H9W4,Q9UNZ4,ABM84442,ABM87494 Hs.567482 ACAD-9|FLJ23533|MGC14452|NPD002 OTTHUMP00000217099|acyl-CoA dehydrogenase family member 9, mitochondrial|acyl-Coenzyme A dehydrogenase family, member 9|very-long-chain acyl-CoA dehydrogenase VLCAD protein-coding 733759 ACADL acyl-Coenzyme A 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] 1304195,1580863,704409,1300048,2317678,2317589 1945557,18660489,12477932,10832093,9714723,9003458,8739959,4022672,2000272,1774065,1607358,1559716,1438359,18029348,20037589,19913121,20628086,20363655,20877624 1304195,704409,2317678,2317589 33 NM_001608,NG_008002,AC006994,CH471063,AK296161,AK313498,BC039063,BC064549,CR592258,DC350098,M74096 NP_001599,AAY14881,EAW70481,BAG58900,BAG36280,AAH39063,AAH64549,AAA51565,P28330,ABM81711,ABM84867 Hs.471277 ACAD4|FLJ94052|LCAD acetyl-coenzyme a dehydrogenase, long-chain|acyl-Coenzyme A dehydrogenase, long chain|long-chain specific acyl-CoA dehydrogenase, mitochondrial protein-coding 735259 ACADM acyl-Coenzyme A 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] 1300334,1580863,704409,1300048,2317678,2317589 2393404,1731887,19224950,19064330,18927092,18660489,18241067,18188679,17539907,17186412,16917729,16617240,16291504,16236267,16128823,15902558,15896661,15832312,15489334,15171999,14970748,14692513,12914524,12562916,12522104,12477932,11517203,11486912,11409868,11349232,11263545,10767181,9882619,9487154,9484241,9158144,8823176,8198141,7929823,7608198,7603790,6857268,3786030,3597357,3462713,3035565,2394825,2251268,1902818,1729890,1684086,1679031,1671131,1363805,11256614,16972171,18029348,19551636,19615732,19649258,1970566,20037589,19913121,20434380,20567907,20628086,20877624,21083904 1300334,704409,2317678,2317589 34 NM_000016,NG_007045,AL357314,CH471059,M60505,M91432,U33947,AF251043,AK296045,AK301005,AK301039,AK301717,AK309843,AK311022,AK311185,AK312629,AK315946,BC005377,BI789086,BX647734,CR596485,CR620592,DB453314,DB537134,M16827,NM_001127328 NP_001120800,NP_000007,CAI22389,CAI22390,EAX06399,EAX06400,EAX06401,AAB59625,AAA59567,AAF63626,BAG58809,BAG62623,BAG62652,BAG63188,BAG35514,BAH14317,AAH05377,CAI45986,AAA51566,P11310,Q5HYG7,Q5T4U5,ABM83267,ABM86636 Hs.445040 ACAD1|FLJ18227|FLJ93013|FLJ99884|MCAD|MCADH acetyl-coenzyme a dehydrogenase, medium chain|acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain|medium-chain specific acyl-CoA dehydrogenase, mitochondrial protein-coding 732202 ACADS acyl-Coenzyme A 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] 1580863,1300335,1300239,1300048,2317678,2317589 20843780,20371198,8276399,16729965,18977676,18539996,18523805,18184946,18175080,18054510,18045290,16376132,15902559,15489334,12706374,12477932,12220177,11134486,9499414,9383286,8889548,8503850,2565344,1692038,1286669,19470168,20037589,20180986,20376488,19913121,20554694,20628086,20877624 1300335,1300239,2317678,2317589 35 HQ205946,HQ205947,HQ205948,HQ205949,HQ205950,HQ205951,HQ205952,HQ205961,HQ205962,HQ205953,HQ205954,HQ205955,HQ205956,HQ205957,HQ205959,HQ205960,HQ205963,HQ205964,HQ205965,HQ205966,HQ205967,HQ205968,HQ205970,HQ205971,HQ205972,HQ205973,HQ205974,HQ205975,HQ205976,HQ205977,HQ205983,HQ205984,HQ205978,HQ205979,HQ205980,HQ205981,NG_007991,AC069234,CH471054,U83992,Z80345,Z80347,AK300645,BC025963,BU682624,CR596637,CR600438,CR604877,CR606773,CR607224,CR608104,NM_000017,CR615642,DB487184,CR613358,CR613518,M26393,AB527081 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,ADP91814,ADP91815,ADP91816,ADP91817,NP_000008,EAW98218,AAD00552,CAB02492,BAG62333,AAH25963,AAA60307,P16219,ABM83110,ABM86304,BAJ05798 Hs.507076 ACAD3|SCAD 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 protein-coding 735869 ACADSB acyl-Coenzyme A 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. 1300336,704409,1580863,1300048 20547083,17207965,7698750,17143180,16344560,16331964,16331963,16317551,15489334,12855692,12477932,11013134,10832746,7759115,16385451,19615732,20418485,20877624 1300336,704409 36 NG_008003,AC012391,AC073585,AF260678,AL731666,CH471066,AK314241,AL831821,BC013756,BC020931,BC032395,BC045723,BE875638,CR612602,DA964130,U12778,NM_001609,AK298638 NP_001600,AAF97921,CAI10847,EAW49291,BAG36909,CAD38535,AAH13756,AAA74424,P45954,Q5SQN6,ADQ31765,BAG60813 Hs.81934 2-MEBCAD|ACAD7|SBCAD 2-methyl branched chain acyl-CoA dehydrogenase|2-methylbutyryl-coenzyme A dehydrogenase|acyl-Coenzyme A dehydrogenase, short/branched chain|short/branched chain specific acyl-CoA dehydrogenase, mitochondrial protein-coding 735407 ACADVL acyl-Coenzyme A 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] 704409,1580863,1300337,1300048,1300240,2317683,2317589 8466512,7479827,7668252,18063578,18660489,18156936,17999356,17514507,17457695,17374501,16464760,15489334,14702039,14611808,12609736,12477932,10790204,10077518,11158518,9973285,9709714,9599005,9546340,9373149,8921384,8845838,8554625,8554073,8125298,7769092,19327992,19889959,20060901,20099975 704409,1300337,1300240,2317683,2317589 37 NM_000018,NM_001033859,NG_007975,AC120057,AF244932,X86556,AJ012053,CH471108,D78298,L46590,AA643658,AK056083,AK056956,AK058109,AK097243,AK222518,AK293537,AK293549,AK302653,AL536186,BC000399,BC012912,BC020218,BI822737,CR594516,CR615522,CR625925,D43682 NP_000009,NP_001029031,CAA60253,P49748,Q53HR2,EAW90246,EAW90247,EAW90248,EAW90249,EAW90250,BAA29057,AAA79002,BAG51618,BAG51833,BAD96238,BAG57019,BAG57027,BAG63892,AAH00399,AAH12912,AAH20218,BAA07781 Hs.437178 ACAD6|LCACD|VLCAD acyl-Coenzyme A dehydrogenase, very long chain|very long-chain specific acyl-CoA dehydrogenase, mitochondrial protein-coding 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] 2315807,2315836,2315837,2315073,1300269,1580863 1326552,1569188,19333097,19298220,19294492,19266077,19180518,19110214,19034380,19004047,18391952,18055126,18040638,17632389,17588949,17568421,17261541,16741449,16650460,16574327,16537531,16425147,16402214,16344560,16335952,16080123,16001263,15590670,14724283,14722076,14627072,14558103,12888576,12477932,12054629,11932252,11898616,11854269,11038354,10922468,10400671,9756610,9688535,9654129,9013976,8921002,8611178,8314595,8216228,7998967,7827755,7626017,7574678,7524681,7240256,2789216,12205105,1985970,15505028,10751421,14701864,16188468,19545413,19657146,19669783,19790048,19893584,20137779,20367118,20379614,20496110,20505571,20367178,20618160,19913121,20546612,20628086,18829133,20936487,21039430 2315807,2315836,2315837,2315073,1300269 176 NM_013227,NM_001135,NG_012794,AC103982,CH471101,CS025622,L29488,S74659,AK290723,BC036445,BC150624,BQ182050,BQ446640,DA596050,J05062,M55172,U13192,X17406,X80278 NP_037359,NP_001126,EAX02017,EAX02018,EAX02019,EAX02020,EAX02021,CAI61688,AAB48068,AAC60643,BAF83412,AAH36445,AAI50625,AAA35726,AAA62824,CAA35463,P16112,Q6LE94,Q6PID9 Hs.2159,Hs.616395 AGC1|AGCAN|CSPG1|CSPGCP|MSK16|SEDK aggrecan 1|aggrecan core protein|cartilage-specific proteoglycan core protein|chondroitin sulfate proteoglycan core protein 1|large aggregating proteoglycan protein-coding 1313339 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 1580863 20379614,17474147,18003747,17664335,17010122,17005562,16777052,16189514,15525538,15489334,12477932,11062263,11050434,7584044,7566098,20800603 9744 NM_014716,AC026954,CH471108,AA356620,BC018543,BT009788,CR599042,D30758 NP_055531,EAW90209,EAW90210,AAH18543,AAP88790,BAA06418,Q15027,ABM82645 Hs.337242 CENTB1|KIAA0050 Arf GAP with coiled coil, ANK repeat and PH domains 1|arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1|centaurin, beta 1|centaurin-beta-1|cnt-b1 protein-coding 1347120 ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 1580863 18003747,16344560,15592455,15489334,12477932,11062263,11050434,11001876,9373149,8125298,7584044 23527 CA413842,NM_012287,AC090018,AC091633,AC126170,CH471052,AJ238248,AK222635,AK290369,BC014843,BC017120,BC031005,BC047579,BC060767,D26069,DA774230,DB087306 NP_036419,EAW78026,EAW78027,CAB41450,BAF83058,AAH31005,AAH60767,BAA05064,Q15057 Hs.593373 CENTB2|CNT-B2|KIAA0041 Arf GAP with coiled coil, ANK repeat and PH domains 2|arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2|centaurin, beta 2|centaurin-beta-2 protein-coding 1321777 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 1580863 15489334,14702039,12477932,11214970,16169070,19548526,19913121,20628086 116983 NM_030649,AL139287,AL162741,CH471183,AB051503,AF411981,AK093954,AK098490,BC004874,BC021851,BC029929,BC047001,BC051194,CR624645 NP_085152,CAI23170,CAI23171,CAI23173,CAI23243,CAI23244,CAI23245,CAI23264,EAW56246,EAW56247,EAW56248,EAW56249,EAW56250,BAB21807,AAL04165,BAC04257,AAH04874,AAH21851,AAH29929,AAH51194,Q8N2W2,Q8N9S2,Q8WTZ1,Q96P50 Hs.535257 CENTB5|KIAA1716 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3|centaurin, beta 5|centaurin-beta-5|cnt-b5 protein-coding 737017 ACAT1 acetyl-Coenzyme A 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] 704409,1300338,1300048,1580863,1300240,2307223,2326222,1358268,2326093,1581042,2326081 1979337,3709573,17353931,1715688,19625677,19269342,19217763,19112833,18996102,18971559,18779653,18562306,18542101,18511318,18393248,18029348,18000807,17691824,17371050,17236799,16935016,16341674,15242332,15158756,15128923,12754704,12477932,9744475,9700610,9607396,9380443,8103405,7907600,7749408,7728148,7173255,4690360,1684944,1627655,1351831,1346617,20460577,20046049,20156697,20167577,20602615,19851860,20877624 704409,1300338,1300240,2307223,2326222,1358268,2326093,1581042,2326081 38 NM_000019,NG_009888,AP002433,CH471065,D10511,AF086561,AK312574,AW081574,BC010942,BC063853,BM789408,D90228 NP_000010,EAW67103,EAW67104,EAW67105,BAA01387,BAG35468,AAH10942,BAA14278,P24752,Q96FG8 Hs.232375 ACAT|MAT|T2|THIL acetoacetyl Coenzyme A thiolase|acetoacetyl-CoA thiolase|acetyl-CoA acetyltransferase, mitochondrial|acetyl-Coenzyme A acetyltransferase 1|mitochondrial acetoacetyl-CoA thiolase protein-coding 1354229 ACAT2 acetyl-Coenzyme A 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] 1298605,1601111,1601112,1581921,1556516,2316857,2326093 17353931,7911016,19282863,19071091,18996102,18660489,18269457,18000807,17950700,17919884,16195894,15733928,15489334,15342556,15158756,14702039,14574404,14557872,12621162,12477932,9373149,8812443,8125298,6150136,2475872,12518221,16331323,19467657,20167577,17207965,18029348,20877624,19913121,20602615,20628086 1298605,1601111,1601112,1581921,1556516,2316857,2326093 39 NG_023389,AL135914,CH471051,AB208993,AF356877,AK055001,AK225089,AK225244,AK291080,AK294273,BC000408,BM997310,BP210609,CR590182,CR592880,CR602774,CR603383,CR605843,CR616356,CR617627,S70154,NM_005891 NP_005882,CAI21850,EAW47619,EAW47620,BAD92230,AAM00223,BAF83769,BAH11719,AAH00408,AAB30856,Q59GW6,Q9BWD1,ADQ32668 Hs.571037 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,SLIPL24_H,SLEP23_H,INSUL38_H,INSUL40_H,GLUCO127_H,INSUL31_H protein-coding 1348505 ACBD3 acyl-Coenzyme A 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] 1580863 17711851,18636124,16870622,16710414,15489334,15231748,14702039,12692076,12665801,12477932,11731621,11590181,12711385,18029348 64746 BC039575,BC045533,BC060792,CR590509,NM_022735,AL592045,CH471098,AB043587,AF020762,AK025520,AK057118,AK314468,AY150218,BC034563 AAH34563,AAH45533,AAH60792,O43466,Q9H3P7,NP_073572,CAH71922,EAW69775,EAW69776,BAB20592,AAB97675,BAB15159,BAG37076,AAN60219 Hs.520207 GCP60|GOCAP1|GOLPH1|PAP7 Golgi resident protein GCP60|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 protein-coding 1318153 ACBD4 acyl-Coenzyme A 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] 16344560,15489334,15221005,14702039,12477932,20881960,19430483,17207965,21045733 79777 BC041143,DA039654,DB128538,DC393065,DC421936,NM_024722,NM_001135704,NM_001135705,NM_001135706,NM_001135707,AC142472,CH471178,AB073387,AK023384,AK075104,AK296167,BC022000,BC029164,AK316359 AAH29164,AAH41143,Q8NC06,NP_078998,NP_001129176,NP_001129177,NP_001129178,NP_001129179,EAW51548,EAW51549,EAW51550,EAW51551,EAW51552,BAD38638,BAB14553,BAC11403,BAG58905,BAH14730,ADQ33037 Hs.110298 FLJ13322|FLJ90623|HMFT0700 acyl-CoA-binding domain-containing protein 4|acyl-Coenzyme A binding domain containing 4 protein-coding 1319743 ACBD5 acyl-Coenzyme A binding domain containing 5 1580863 16385451,15342556,14702039,12477932,12056414,17207965 91452 BC011364,BC025309,BC030555,BP200763,CA776355,DC333545,NR_024150,NM_001042473,NM_145698,AL160291,CH471072,AB082527,AF505653,AK057469,AK294510,AK295031,AK304842,AL133064 AAH30555,Q5T8D3,Q5T8E0,Q8NCM9,ADQ32840,NP_001035938,NP_663736,CAI16911,CAI16912,CAI16913,CAI16914,CAI16915,CAI16916,EAW86059,EAW86060,EAW86061,EAW86062,EAW86063,BAC02705,AAP30852,BAG51918,BAH11793,BAH11953,BAH14266,CAB61388 Hs.530597 DKFZp434A2417|KIAA1996 OTTHUMP00000019364|OTTHUMP00000019365|acyl-CoA-binding domain-containing protein 5|acyl-Coenzyme A binding domain containing 5|endozepine-related protein|membrane-associated diazepam binding inhibitor protein-coding 1312817 ACBD6 acyl-Coenzyme A binding domain containing 6 737633,1580863 18268358,16710414,15489334,12477932,8889549,20098747,20379614,18029348 737633 84320 AL139141,AL358354,AL445469,CH471067,AA085012,AK314112,AY606133,BC006505,CR596110,CR596874,CR597133,CR602338,CR616957,NM_032360,CR617242,CR626583,AL537685,AL561590,BU170874 NP_115736,CAI19365,CAI15093,CAH71747,EAW91082,EAW91083,EAW91084,BAG36805,AAH06505,Q9BR61 Hs.200051 MGC2404 acyl-CoA-binding domain-containing protein 6|acyl-Coenzyme A binding domain containing 6 protein-coding 1350250 ACBD7 acyl-Coenzyme A binding domain containing 7 15489334,15164054,14702039,12477932 414149 NM_001039844,AL590365,CH471072,AK095538,AK295169,BC029526,BX114172 NP_001034933,CAH73964,EAW86243,BAG53080,BAH11998,AAH29526,Q8N6N7 Hs.723069,Hs.644598 FLJ38219|FLJ52263|MGC33893|bA455B2.2 acyl-CoA-binding domain-containing protein 7|acyl-Coenzyme A binding domain containing 7 protein-coding 737359 ACCN1 amiloride-sensitive cation channel 1, neuronal 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 ACCN3 (variant 1) 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] 1298644,1300241,1300338,1580863 8626462,11802773,19091960,17553932,17548344,17534430,17376794,16704974,15504740,15489334,15471860,12477932,11739374,10842183,9360943,9037075,8921408,8631835,20306292,20201926,20379614,20677014 1298644,1300241,1300338 40 NM_001094,NM_183377,AC003687,AC004147,AC008133,AC011824,AC015751,AC024610,AC024614,AC025898,AC027233,AC078907,AC123769,CH471147,AK127748,AK313043,AL834182,BC075042,BC075043,U50352,U53212,U57352 NP_001085,NP_899233,EAW80216,BAG54565,BAG35875,CAD38879,AAH75042,AAH75043,AAC50432,AAC50498,AAB49182,Q16515,ABZ92042 Hs.368417 ACCN|ASIC2|ASIC2a|BNC1|BNaC1|MDEG|hBNaC1 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 protein-coding 731360 ACCN2 amiloride-sensitive cation channel 2, neuronal 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 is expressed in most if not all brain neurons, and it may be an ion channel subunit; however, its function as an ion channel remains unknown. Alternative splicing of this gene generates 2 transcript products. [provided by RefSeq] 1298544,1300242,1300339,1580863 11802773,9062189,9037075,19185346,18662336,18514062,18349698,17984098,17548344,17443677,17392378,17324378,15952105,15738111,15576453,15574747,15489334,15471860,15247234,14988500,12578970,12477932,12393854,12244121,11988176,11748227,11739374,11512022,11448963,10798398,10362604,9360943,8685718,20306292,20371317,19561078,19654327,20048170,20215117,20216553,20299463,20601429,21036899 1298544,1300242,1300339 41 NM_020039,NM_001095,AC025154,CH471111,AK290010,AK293960,AK311047,BC013891,BC028722,BC133707,EU078959,U78180,U78181,HM991481 NP_064423,NP_001086,EAW58116,EAW58117,EAW58118,EAW58119,BAF82699,BAG57332,AAH13891,AAI33708,ABU48925,AAB48980,AAB48981,P78348,ADP44689 Hs.274361 ASIC|ASIC1|ASIC1A|BNaC2|hBNaC2 ACCN2 variant 3|Cation channel, amiloride-sensitive, neuronal, 2|acid-sensing ion channel 1|acid-sensing ion channel 1a protein|amiloride-sensitive cation channel 2, neuronal|brain sodium channel 2 protein-coding 1353665 ACCN3 amiloride-sensitive cation 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 ACCN1 has been observed as proton-gated channels sensitive to gadolinium. Alternative splicing of this gene generates three transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 9744806,9571199,18854755,17012229,15574747,15471860,15317815,12690205,12578970,12477932,12060708,11872753,11842212,11587714,10842183,9886053,20693874,20416288,19885742,21092862 9311 NM_020321,NM_004769,NM_020322,A82593,A82597,A82786,AACC02000108,AC010973,CH471173,AB010575,AB209421,AF057711,AF095897,AF195024,AF195025,AI580095,AK313926,BC030282 NP_064717,NP_004760,NP_064718,CAB69243,CAB69244,CAB69252,EAL24495,EAL24496,EAL24497,EAW54052,EAW54053,EAW54054,EAW54055,BAA25897,BAD92658,AAC62935,AAC64188,AAF19817,AAF19818,BAG36647,Q9UHC3,AAI56797 Hs.647113 ASIC3|DRASIC|SLNAC1|TNaC1 OTTHUMP00000213254|acid-sensing ion channel 3|amiloride-sensitive cation channel 3|amiloride-sensitive cation channel 3, testis|hASIC3|hTNaC1|modulatory subunit of ASIC2a|neuronal amiloride-sensitive cation channel 3|proton-gated cation channel subunit|testis sodium channel 1 protein-coding 1604616 ACCN4 amiloride-sensitive cation channel 4, pituitary 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. Alternative splicing at this locus results in two transcript variants encoding different isoforms. [provided by RefSeq] 15815621,10852210,18662336,17207965,15489334,12477932,11571555,9847074 55515 NM_018674,NM_182847,AC009955,AC053503,AC139723,AJ271643,AJ408881,CH471063,AK308804,AK309373,BC010439,BC031812,BC073912,EL736952 NP_061144,NP_878267,AAY15054,CAB93980,CAC51338,EAW70760,EAW70761,EAW70762,EAW70763,AAH10439,AAH31812,Q96FT7,ABM83030 Hs.87469 ASIC4|BNAC4|MGC17248|MGC24860 acid-sensing ion channel 4|amiloride-sensitive cation channel 4|brain sodium channel 4 protein-coding 736018 ACCN5 amiloride-sensitive cation channel 5, intestinal 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] 1580863 10767424 51802 NM_017419,AC093830,AC125334,CH471056,AJ252011 NP_059115,EAX04887,CAB85607,Q9NY37,AAI40357,AAI46498 Hs.381349 HINAC|INAC amiloride-sensitive cation channel 5|amiloride-sensitive sodium channel|human intestine Na(+) channel protein-coding 1606762 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 11470512,16344560,16189514,14702039,12477932,20453000 84680 NM_032592,NM_001127219,AC134775,CH471064,AK057649,AK307380,AL833533,AY026508,BC020197,CR601174,CR618044,DA196370,DA406116,DC390076,AK302515,AK304074 NP_115981,NP_001120691,EAW68072,EAW68073,BAB71541,AAK11482,AAH20197,Q96QU6,BAG63791,BAG64981 Hs.126706 ACS|PHACS 1-aminocyclopropane-1-carboxylate synthase-like protein 1|ACC synthase-like protein 1 protein-coding 2302255 ACCSL 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 12477932 390110 NM_001031854,AC134775,CH471064,AB231732,AB231733,AB231734,BC144554,DW009984 NP_001027025,EAW68074,BAE46887,BAE17132,Q3C1W0,Q4AC99 Hs.558851 1-aminocyclopropane-1-carboxylate synthase-like protein 2|ACC synthase-like protein 2 protein-coding 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] 1580863 17237767,15181449,15380063,17237768,16880378,16166375,19424630,18185984,17632522,17466001,17373762,16749892,16713569,16504561,16344560,15537664,15489334,15231715,14702039,12477932,9110174,8619474,16189514,16169070,20937264,19648609,19766477,20404094 65057 NM_001082486,NM_022914,NM_001082487,AC010530,AY971883,CH471092,AF070535,AK023726,AK125623,AK301090,AY502940,BC016904,CR592709,CR599071,CR603519,CR605529,CR609290,CR610904,CR615919,CR616320,DB040017 NP_001075955,NP_075065,NP_001075956,AAX82621,EAW83154,EAW83155,BAB14658,BAG62692,AAS80318,AAH16904,Q96AP0 Hs.78019 PIP1|PTOP|TINT1|TPP1 POT1 and TIN2 organizing protein|POT1 and TIN2-interacting protein|TIN2 interacting protein 1|adrenocortical dysplasia protein homolog protein-coding 737323 ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 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. Two most abundant alternatively spliced variants of this gene encode two isozymes - the somatic form and the testicular form that are equally active. Multiple additional alternatively spliced variants have been identified but their full length nature has not been determined. [provided by RefSeq] 1581742,1601114,1300243,2313799,1566491,1566498,1598433,1300340,1331525,1601113,1601115,1580863,4140923,4140922,4140920,4140480,2325220,2325221,4140486,2325224,2325227,2325229,2325231,2325232,2325226,2325207,2325213,2325225,2311449,2325208,4140933,2325211,4140915,2325215,4140485,4140914,4140916,4140917,4140918,4140930,4140487,4140925,4140478,4140913,4140488,4140919,4140912 19141296,19136547,19132786,19131662,19130799,19129082,19126662,19126661,19126660,19125277,19119484,19117407,19112833,19110485,19108684,19105203,19103106,19102831,19100063,19099777,19082699,19081678,19081115,19076285,19073835,19072566,19067809,19062524,19061927,19058590,19143971,19057513,19056482,19051693,19050458,19039150,19037561,19034872,19030872,19021774,19021695,19020433,19019335,19018872,19014923,19008959,18996102,18986708,18985387,18974842,18955615,18953568,18947757,18946466,19142023,19502260,19502259,19502258,19502257,19498318,19497121,19484664,19482546,19479237,19478476,19475602,19474452,19463119,19463113,19462670,19423314,19422651,19420105,19409959,19408837,19404196,19390959,19390744,19383228,19379721,19375306,19372095,19371224,19369957,19341158,19339052,19332265,19319668,19307975,19298544,19294883,19293592,19291311,19288324,19286759,19286758,19286757,19280995,19277943,19276555,19268079,19263529,19258445,19255721,19253715,19247692,19247266,19245071,19242491,19237423,19236533,19221299,19210273,19207872,19203483,19196567,19185300,19178938,19176688,19162259,19157170,19156168,19155782,19145770,18936436,18927546,18856058,18849600,18838196,18833197,18830724,18830250,18818748,18813964,18805557,18801770,18792483,18791745,18787808,18787507,18767410,18763423,18758497,18756878,18755533,18754764,18727619,18724972,18718603,18713090,18712159,18711292,18706898,18702808,18698212,18680700,18676575,18674955,18672804,18660489,18652767,18651373,18647135,18641516,18637188,18629615,18622756,18622495,18591916,18589597,18588608,18586276,18578648,18568123,18565253,18563171,18560180,18551123,18551012,18550936,18550651,18550062,18544166,18541327,18523145,18523141,18521860,18516470,18516385,18511872,18504336,18503143,18497458,18496980,18496132,18494379,18491423,18488444,18484085,18479585,18478260,18477980,18457169,18454324,18446309,18446054,18445609,18444962,18443916,18439702,18431347,18431000,18413308,18413222,18413162,18404607,18393230,18389211,18387982,18383374,18366776,18365645,18364271,18347926,18347611,18339134,18333655,18328310,18327080,18318764,18317377,18298340,18294050,18291549,18285758,18284535,18280446,18279468,18269824,18260877,18260840,18258629,18258537,18258525,18242170,18239384,18239157,18235053,18231736,18229571,18210757,18208631,18205097,18205094,18199798,18188985,18181977,18181094,18165925,18156303,18154415,18098237,18081503,18077786,18069999,18060663,18057531,18049432,18049167,18046090,18031458,18027070,18025834,18024289,17993616,17992634,17988266,17987391,17986476,17985406,17984617,17969487,17941464,17938801,17937470,17927479,17922891,17921816,17921431,17921131,17920817,17920311,17915410,17914507,17162847,17162429,17146217,17143591,17142213,17138677,17131920,17131847,17124396,17124384,17123735,17123697,17121351,17118372,17116317,17113662,17111197,17107992,17103020,17094271,17092869,17083336,17083073,17083063,17069434,17066084,17065682,17054027,17044652,17042963,17042482,17035401,17032288,17024648,17023764,17022779,17016614,17014625,17006710,17003923,17003740,17003099,17000927,16998460,16984256,16981144,16981142,16971231,16969640,16962475,16960460,16960022,16954165,16950802,16949519,16937603,16936432,16936219,16935894,16926975,16926677,16926271,16924268,16918342,16915032,16906459,16900885,16898483,16889537,16877959,16876684,16875979,16874006,16866021,16825089,16818212,16797293,16791616,16791358,16789598,16789486,16779534,16775548,16775386,16769256,16765625,16764852,16764031,16754559,16753875,16741935,16741369,16741188,16736244,16728350,16724936,16704688,16685579,16681991,16679984,16679861,16672053,16645262,16642441,16635753,16621107,16615274,16614523,16614502,16612256,16609364,16603315,16600946,16583472,16580777,16572049,16563249,16544732,16538877,16538872,16525944,16525943,16525069,16521406,16521052,16512390,16496610,16496609,16492203,16490688,16488647,16485730,16484896,16477235,16476718,16476442,16468060,16465461,16462911,16450155,16449550,16446094,16443328,16442232,16435992,16434838,16421456,16420563,16416313,16407699,16406141,16395257,16391565,16387306,16386515,16385653,16384981,16384824,16374139,16369102,16365022,16356438,16335952,16319043,16314886,16314202,16312263,16303122,16281482,16274774,16272779,16272677,16270062,16252613,16248996,16247204,16236416,16231503,16230281,16222898,16222048,16221224,16213264,16208534,16202861,16186399,16178979,16176418,16172223,16167906,16166094,16158368,16154999,16146835,16145913,16140645,16136034,16136003,16134592,16133060,16130596,16128377,16128371,16127195,11699055,11696688,11696658,11696022,11692002,11691520,11688760,11677359,11668351,11665795,11640993,11599244,11596779,11593098,11577832,11569699,11568784,11568114,11545752,11544438,11532108,11531970,11527624,11525534,11522715,11522714,11518842,11509536,11507973,11505631,11501342,11498459,11487079,11485566,11485372,11484170,11474225,11473656,11463587,11459796,11447495,11446493,11437027,11436566,11436125,11431175,11428725,11427204,11422735,11421129,11409168,11408790,11402126,11401115,11401071,11399938,11387483,11381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,11707217,12126783,12123491,12123487,12122980,12122874,12119485,12114335,12113906,12102452,12099691,12095411,12084438,12082592,12081578,12070247,12047032,12043886,12043242,12032106,12031990,12031704,12023681,12015946,12015366,12015245,12010139,12006218,11994975,11994001,11992568,1328889,1316930,20299978,20134102,19455482,19913121,20160398,20305326,20454656,20565247,20565774,20567050,20570668,20574532,20574690,20577119,20592051,20594303,20602615,20606419,20606435,20609315,20625269,20625691,20628086,20629643,20639003,20639399,20655774,20655894,20659024,20673306,20673868,20679960,20682687,20682755,20685027,20687780,20688470,20692468,20702504,20722577,20722844,20730398,20734058,20798657,20812241,20816596,20818980,20819590 1581742,1601114,1300243,2313799,1566491,1566498,1598433,1300340,1331525,1601113,1601115,4140923,4140922,4140920,4140480,2325220,2325221,4140486,2325224,2325227,2325229,2325231,2325232,2325207,2325213,2325225,2311449,2325208,4140933,2325211,4140915,2325215,4140485,4140914,4140916,4140917,4140918,4140930,4140487,4140925,4140478,4140913,4140488,4140919,4140912 1636 BM908222,NM_001178057,NM_152830,NG_011648,A31567,AC113554,AF118569,AF229986,AY436326,AY999972,AY999973,CH471109,EU332840,AB208971,AK296566,AK300516,NM_000789,AK301988,AK302019,AK309514,BM908180,J04144,M26657,M29981,S81361,X16295 NP_001171528,NP_000780,NP_690043,CAA02045,AAD28560,AAD28561,AAR03504,ABA39228,ABA39229,EAW94311,EAW94312,EAW94313,EAW94314,EAW94315,EAW94316,EAW94317,EAW94318,EAW94319,EAW94320,EAW94321,ABY87529,BAD92208,BAG59186,BAG62228,BAG63395,BAG63418,AAA51684,AAA60611,AAD14360,CAA34362,P12821,Q16425,Q3KRI5 Hs.298469 ACE1|CD143|DCP|DCP1|MGC26566|MVCD3 CD143 antigen|angiotensin 1 converting enzyme 1|angiotensin converting enzyme, somatic isoform|angiotensin-converting enzyme|carboxycathepsin|dipeptidyl carboxypeptidase 1|dipeptidyl carboxypeptidase I|kininase II|peptidase P|testicular ECA 1643091 BP90_H protein-coding 1347174 ACE2 angiotensin I converting enzyme (peptidyl-dipeptidase A) 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] 1581742,1558664,1642828,2313796,2313798,2313800,2313797,2313799,1581931,1576349,1580863,2325210,4140485,4140483 18343844,20484496,21115782,20349406,20831027,20541774,20674894,21068237,10969042,10924499,18258853,15165741,15380922,17703127,18279660,19411314,19297479,19289653,19286757,19286756,19212105,19164480,19164471,19141296,19136547,19077694,19067252,19051693,19034303,19021774,19020433,18931070,18926157,18814896,18753062,18660448,18560893,18554741,18502721,18496132,18490652,18448527,18441099,18389211,18310257,18223028,18223027,18223023,18208662,18164957,18029348,18022600,17906677,17897017,17504232,17473847,17303661,17079315,17037581,17037544,17037543,17037534,16962475,16912312,16866021,16690935,16574921,16510163,16459167,16338465,16315782,16283142,16215952,16211375,16166518,16166094,16088128,16055515,16006956,16001071,15983030,15979045,15937940,15897467,15791205,15769906,15671045,15640278,15489334,15452268,15361769,15283675,15276642,15233982,15231706,15151696,15141377,15084671,14754895,14670965,14647384,12975309,12967627,12477932,12459472,12075344,12025971,11815627,20660625,20854388,21052031,20798044,19913121,20142028,20592051,20628086,20679547,20813695,16647014,19077419,19461648,19684612,19700132,19716087,19864379,19901337,19924243,19926873,19934006,20117248,20117991,20134095,20160196,20204277,20224560 1581742,1558664,1642828,2313796,2313798,2313800,2313797,2313799,1581931,1576349,2325210,4140485,4140483 59272 NM_021804,NG_012575,AC097625,AF366352,AY217547,CH471074,AB193259,AB193260,AF241254,AF291820,AK026461,AK315144,AL110224,AY358714,AY623811,BC032938,BC039902,BC048094,BC048144,BC059378,CR599955,GQ262784,AB046569 EAW98892,Q9BYF1,NP_068576,AAO25651,EAW98891,BAB40370,BAD99266,BAD99267,AAF78220,AAF99721,BAG37592,CAB53682,AAQ89076,AAT45083,AAH39902,AAH48094,ACT66268 Hs.178098 ACEH|DKFZp434A014 ACE-related carboxypeptidase|angiotensin I converting enzyme 2|angiotensin-converting enzyme 2|angiotensin-converting enzyme homolog|metalloprotease MPROT15 protein-coding 1344470 ACER1 alkaline ceramidase 1 1580863 17713573,17562024,16477081,15489334,12783875,12477932,11915342 125981 NM_133492,AC011491,AC114268,CH471139,AF347024,BC112122,BC112124,CU449837 NP_597999,EAW69104,EAW69105,AAL83822,AAI12123,AAI12125,Q8TDN7 Hs.352609 ALKCDase1|ASAH3|MGC138327|MGC138329 N-acylsphingosine amidohydrolase (alkaline ceramidase) 3|N-acylsphingosine amidohydrolase 3|acylsphingosine deacylase 3|alkCDase 1|alkaline CDase 1|alkaline ceramidase 1 protein-coding 1312176 ACER2 alkaline ceramidase 2 18945876,16940153,15498874,15489334,15164053,12477932,20089856,20379614,20628055 340485 NM_001010887,AL158206,AL391834,CH471071,AF370405,AK123581,AY312516,BC092487 NP_001010887,CAH73022,CAM21146,EAW58634,AAQ15241,BAG53917,AAQ85132,AAH92487,Q5QJU3 Hs.41379 ALKCDase2|ASAH3L|FLJ41587 N-acylsphingosine amidohydrolase 3-like|acylsphingosine deacylase 3-like|alkCDase 2|alkaline CDase 2|alkaline ceramidase 2|ceramide hydrolase|haCER2 protein-coding 1346570 ACER3 alkaline ceramidase 3 1580863 18619555,15489334,14702039,12477932,11356846,19834535,20068046,20379614,19913121,20628086,17207965 55331 NM_018367,AP000752,AP002498,AP003119,CH471076,AF214454,AF327353,AK002100,AK308856,AK315000,BC049837,BC063034,BC073853,BG702017,AK293800,AK294978,AK295142,AK295327,AK316120 NP_060837,EAW75009,EAW75010,EAW75011,EAW75012,AAK71923,AAL56013,BAA92085,BAG37496,AAH73853,Q9NUN7,BAH11598,BAH11938,BAH11988,BAH12032,BAH14491,ADQ31994 Hs.23862 APHC|FLJ11238|PHCA alkCDase 3|alkaline CDase 3|alkaline ceramidase 3|alkaline dihydroceramidase SB89|alkaline phytoceramidase|phytoceramidase, alkaline protein-coding 1353412 ACHAP acetylcholinesterase-associated protein 42 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] 2312424,2312432,2312438,2301195,2312430,2301197,2312437,1300048,1580863,1300342,1300297,1300239 20138030,20338155,20356562,20398640,20433814,1517212,11283752,12524166,3954986,12769797,15454088,16289501,14766237,8460160,19468687,19371631,19371630,19327769,19294450,19185568,19156168,19086053,19019080,18780301,18769671,18612832,18470725,18454940,18344198,18299393,18258603,18215127,18194455,18161504,17984143,17948252,17729290,17702992,17606622,17503475,17476278,17370251,17335779,17320203,17272501,17192673,17192630,17192624,16996687,16909200,16832351,16801396,16516310,16429485,16375580,16262697,16256968,16256091,16213467,15974920,15974894,15783300,15715671,15690550,15629887,15526038,15488495,15474030,15459952,15161650,15123727,15078872,15060281,12963741,12928915,12853948,12851386,12811800,12690205,12609505,12604711,12548360,12477932,12466963,12427014,12140295,12081473,12069617,12009429,11804574,11799248,11239002,11053835,11002295,10837146,9847074,9811904,9689136,9640563,9579781,9373149,8488842,8449945,8299725,8280063,8248502,8125298,7836436,7085778,3319614,2734315,2714437,2263619,10800960,20173328,1748670,1744105,1609795,1391965,1380483,18457821,19051205,19730683,20193849,20398908,20431033,8349597,20883446,19913121,20529763,20602615,20628086 2312424,2312432,2312438,2301195,2312430,2301197,2312437,1300342,1300297,1300239 43 NM_015831,NM_000665,NG_007474,AC011895,AF002993,AF312032,AY750146,CH236956,CH471091,L06484,L42812,S71129,AF334270,AK223443,AK291321,AY389977,BC001541,BC026315,BC036813,BC094752,BC105060,BC105062,BC143469,BG707892,M55040 NP_056646,NP_000656,AAP22364,AAP22365,AAK21003,AAU43801,EAL23812,EAL23813,EAW76460,EAW76461,EAW76462,EAW76463,EAW76464,AAC60618,AAO32948,BAD97163,BAF84010,AAR26654,AAH36813,AAI05061,AAI05063,AAI43470,AAA68151,P22303,Q6TQD3 Hs.154495 ARACHE|N-ACHE|YT OTTHUMP00000211347|OTTHUMP00000211356|Yt blood group|acetylcholinesterase|acetylcholinesterase (Yt blood group)|apoptosis-related acetylcholinesterase protein-coding 1353263 ACHM1 achromatopsia (rod monochromacy) 1 1347967 6021 1323663 ACIN1 apoptotic chromatin condensation inducer 1 1580863 10490026,11208865,12393560,18029348,17409846,17081983,16964243,16537548,16177823,16083285,15324660,15302935,14729942,12477932,9734811,16169070,19759913,20800603,18250153,19387494,19615784,19668232 22985 NM_014977,AL117258,AL132780,CH471078,AB014570,AF124726,AF124727,AF124728,AK299034,AL050382,AL833228,BC032770,BC140805,BX247975,CX786860,NM_001164814,NM_001164815,NM_001164816,NM_001164817 NP_055792,EAW66186,EAW66187,EAW66188,BAA31645,AAD56724,AAD56725,AAD56726,BAG61109,CAB43681,CAH10608,AAI40806,CAD62309,Q69YJ6,Q9UKV3,NP_001158286,NP_001158287,NP_001158288,NP_001158289 Hs.124490 ACINUS|ACN|DKFZp667N107|KIAA0670|fSAP152 apoptotic chromatin condensation inducer in the nucleus|functional spliceosome-associated protein 152 protein-coding 1343783 ACLS acrocallosal syndrome 46 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] 1304191,1300342,1580863,1300238,2317316,2317309 1371749,17353931,19461003,18922930,18681781,18660489,17081983,15592455,15489334,15302935,14702039,14681844,12477932,10653665,9116495,8088842,6801225,6109001,3305493,2176822,19019082,19296078,19795461,20615871,8944226,20558738,18029348,20800603,20877624,20693577 1304191,1300342,1300238,2317316,2317309 47 NM_198830,NM_001096,AC091172,CH471152,AB210035,AK095084,AK295675,AK304802,AK312315,BC006195,BG037168,U18197,X64330 NP_942127,NP_001087,EAW60777,EAW60778,EAW60779,EAW60780,EAW60781,BAE06117,BAC04484,BAG58532,BAG65552,AAH06195,AAB60340,CAA45614,P53396,Q4LE36,Q8N9C4 Hs.387567 ACL|ATPCL|CLATP ATP citrate synthase|ATP-citrate (pro-S-)-lyase|ATP-citrate synthase|OTTHUMP00000164773|citrate cleavage enzyme protein-coding 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] 632265,1580863 12140278,16189514,15489334,12477932,19843166 632265 130013 AK125008,BC016018,BC107420,BG428338,AB071418,NM_138326,AC016725,CH471058 BAC86023,AAH16018,AAI07421,Q53SR5,Q6ZV40,Q8TDX5,EAX11652,BAB86938,NP_612199,AAY14997,EAX11649,EAX11650,EAX11651 Hs.655728 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase|OTTHUMP00000162501|picolinate carboxylase protein-coding 1313002 ACN9 ACN9 homolog (S. cerevisiae) 1580863 19913121,20628086,10103055,18163977,15489334,12853948,12690205,12477932,20877624 57001 NM_020186,AC073421,AC073900,CH236949,CH471091,AF201933,BC020621,BC022858,BC028409,CD557710 NP_064571,AAS07570,EAL24120,EAW76739,EAW76740,AAF86869,AAH20621,AAH22858,Q9NRP4 Hs.592269 DC11 protein ACN9 homolog, mitochondrial protein-coding 10067 ACO1 aconitase 1, soluble Aconitase 1, also known as iron regulatory element binding protein 1 (IREB1), is a cytosolic protein which binds to iron-responsive elements (IREs). IREs are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. The iron-induced binding to the IRE results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degrading transferrin receptor mRNA. Thus, IREB1 plays a central role in cellular iron homeostasis. It was also shown to have aconitase activity, and hence grouped with the aconitase family of enzymes. 1300239,1300343,1580863 9020582,8764614,8262977,2771641,2172968,1946430,1903202,16527810,16144863,1738601,18262302,17613866,17604281,17521334,17244191,17200797,17127713,16503547,16424901,16407072,16344560,15938636,15543932,15489334,15349772,15099026,12972614,12855587,12572667,12477932,12196178,11812787,11783942,10944468,10419470,17877204,19688112,19762596,19762597,20354189,8041788,20558735,20569198,20574843,20877624 1300239,1300343 48 NM_002197,AL161783,CH471071,DQ496106,AF261088,AK057904,AK308752,BC018103,DA409113,M58510,Z11559,AB209480 NP_002188,CAH72598,CAH72599,EAW58549,EAW58550,EAW58551,EAW58552,ABF47095,AAF99681,AAH18103,AAA69900,CAA77651,P21399,Q59FI0,Q5VZA6,Q9HBB2,BAD92717 Hs.567229 ACONS|IREB1|IREBP|IREBP1|IRP1 IRE-BP 1|OTTHUMP00000021177|aconitate hydratase|citrate hydro-lyase|cytoplasmic aconitate hydratase|ferritin repressor protein|iron regulatory protein 1|iron-responsive element binding protein 1|iron-responsive element-binding protein|iron-responsive element-binding protein 1 protein-coding 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] 2306877,1300344,1580863,1300048 1946331,9630632,18029348,19405953,19110265,16625280,16598741,16236267,15952740,15489334,15461802,14972331,12746427,12477932,12198491,11258795,10591208,9020582,8443405,7192199,1602151,1052766,879710,752479,752478,752476,19524665,20607720,20877624 2306877,1300344 50 AF093096,AL008582,AL023553,CH471095,U87926,U87927,U87928,U87929,U87930,U87931,U87932,U87933,U87934,U87935,U87936,U87937,U87938,U87939,AA724140,AK293562,AK296260,AK297213,AK301321,AK302691,AK314845,BC014092,BC026196,CR456365,CR536568,CR592345,CR595461,CR596181,CR596278,CR596641,CR613743,CR614581,CR619036,CR621307,U80040,NM_001098 CAK54363,CAK54662,ABM84600,ABM86762,NP_001089,AAD19351,CAI17931,CAI20278,EAW60435,EAW60436,AAC39921,BAG57034,BAG58973,BAG59696,BAG62870,BAG63920,BAG37362,AAH14092,AAH26196,CAG30251,CAG38805,AAB38416,Q71UF1,Q99798 Hs.643610 ACONM|MGC20605|MGC33908 aconitate hydratase, mitochondrial|citrate hydro-lyase|mitochondrial aconitase (nuclear aco2 gene) protein-coding 1605748 ACOT1 acyl-CoA thioesterase 1 16103133,12477932,20736409,16940157 641371 GU727640,NM_001037161,AC005225,AK300886,BC127747,BC127748,BC132889,BC132891,BC143042,BX161396,DQ082754 ADU87641,NP_001032238,BAG62528,AAI27748,AAI27749,AAI32890,AAI32892,AAI43043,CAD61883,AAZ31236,Q86TX2 Hs.568046 ACH2|CTE-1|LACH2 CTE-I|CTE-Ib|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 1317612 ACOT11 acyl-CoA thioesterase 11 This gene encodes a protein with acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Expression of a similar murine protein in brown adipose tissue is induced by cold exposure and repressed by warmth. Expression of the mouse protein has been associated with obesity, with higher expression found in obesity-resistant mice compared with obesity-prone mice. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 20379614,16344560,11696000,16103133,15489334,14702039,12477932,9734811,9373149,8125298,19913121,20628086,20470824 26027 DA121227,NM_015547,NM_147161,AC099796,AL590093,CH471059,AB014607,AF416921,AF416922,AK023937,AK091112,AK223570,BC001517,BC093844,BC093846,AL713723 NP_056362,NP_671517,CAH71611,CAH71612,EAX06682,EAX06683,EAX06684,BAA31682,AAL40937,AAL40938,BAB14734,BAD97290,AAH01517,AAH93844,AAH93846,Q8WXI4 Hs.234786 BFIT|BFIT1|BFIT2|DKFZp667O1916|KIAA0707|STARD14|THEA|THEM1 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 protein-coding 736721 ACOT12 acyl-CoA thioesterase 12 1300048 16951743,16103133,15489334,14702039,12767336,12477932,11322891,20379614 134526 NM_130767,AC008411,AC010623,CH471084,AB078619,AK122960,BC075010,BC075011,BC089437 NP_570123,EAW95874,EAW95875,BAB84022,BAG53821,AAH75010,AAH75011,AAH89437,Q5FWE9,Q8WYK0 Hs.591756 CACH-1|Cach|MGC105114|STARD15|THEAL START domain-containing protein 15|StAR-related lipid transfer (START) domain containing 15|acyl-CoA thioester hydrolase 12|acyl-coenzyme A thioesterase 12|cytoplasmic acetyl-CoA hydrolase 1|cytoplasmic acetyl-coa hydrolase|cytosolic acetyl-CoA hydrolase|hCACH-1 protein-coding 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. 1580863 19405909,19170545,18095154,17704541,17045243,16934754,16344560,15489334,14702039,14574404,12477932,10931946,8889548,20877624 55856 NM_001160094,AL031775,CH471087,CS072377,AF155649,AF220186,AF274952,AK000508,AK309738,BC000894,BG568305,CB852340,CR610760,DB214267,NM_018473 NP_060943,NP_001153566,CAD92509,EAW55460,CAI93515,AAF67006,AAF67651,AAK07529,BAA91215,AAH00894,Q9NPJ3 Hs.727546 HT012|MGC4961|PNAS-27|THEM2 acyl-coenzyme A thioesterase 13|hypothalamus protein HT012|thioesterase superfamily member 2 protein-coding 1605691 ACOT2 acyl-CoA thioesterase 2 Acyl-CoA thioesterases, such as ACOT2, are a group of enzymes that hydrolyze CoA esters, such as acyl-CoAs, bile CoAs, and CoA esters of prostaglandins, to the corresponding free acid and CoA (Hunt et al., 2005 [PubMed 16103133]).[supplied by OMIM] 1625728,2315862,2315861 20379614,17353931,10944470,16940157,19497300,16103133,15489334,15007068,14702039,12665801,12477932,9373149,8125298,7596406,20877624 1625728,2315862,2315861 10965 NM_006821,AC005225,AK001939,AK093131,AK223635,AY005822,BC004436,BC006335,BC006500,CR599069,CR599629,CR610624,CR617797,CR618088,CR622314,CR624943,DQ082755,L40401 NP_006812,BAA91989,BAG52662,BAD97355,AAF97985,AAH04436,AAH06335,AAH06500,AAZ31237,AAC42007,P49753,ABM84414,ABM87405 Hs.699708,Hs.446685 CTE1A|MTE1|PTE2|PTE2A|ZAP128 CTE-Ia|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 protein-coding 1605006 ACOT4 acyl-CoA thioesterase 4 16940157,18029348,16141203,16103133,15489334,14702039,12477932,10944470,10567408,7596406 122970 NM_152331,AC005225,CH471061,AK055797,AK094223,BC031799,BC090945,BC117341,BC117343,BX248023,BX248047 NP_689544,EAW81120,EAW81121,BAB71017,BAC04313,AAH31799,AAH90945,AAI17342,AAI17344,CAD62346,CAD62354,Q8N9L9 Hs.49433 PTE-Ib|PTE1B|PTE2B PTE-2b|acyl-coenzyme A thioesterase 4|peroxisomal acyl coenzyme A thioester hydrolase Ib|peroxisomal acyl-CoA thioesterase 2B|peroxisomal long-chain acyl-CoA thioesterase Ib protein-coding 1605747 ACOT6 acyl-CoA thioesterase 6 16940157,16103133,12477932 641372 NM_001037162,AC005225,CH471061,BC126378,BC126380,DQ082756 AAI26381,NP_001032239,EAW81122,AAI26379,AAZ31238,Q3I5F7,ADR82840 Hs.122038 C14orf42|MGC161656|MGC161658|c14_5530 putative acyl-coenzyme A thioesterase 6 protein-coding 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] 18029348,10578051,16713569,16710414,16103133,15731883,15592755,15489334,14702039,12477932,12435388,19305408,19724895,19851296,20198315 11332 NM_181864,NM_181865,NM_181866,AL031847,AL031848,CH471130,AB074415,AB074416,AB074417,AB074418,AB074419,AK057168,AK289572,AK290097,AK291583,AK292202,AK300831,AL702662,BC017365,BG332214,BM807217,BQ067921,BT006888,BU594651,CR593786,CR594456,CR595220,CR597165,CR599443,CR599569,CR603255,CR604226,CR605522,CR606054,CR608567,CR611815,CR614606,CR615031,CR617887,NM_007274,CR620600,CR620739,D88894,U91316 NP_009205,NP_863654,NP_863655,NP_863656,CAI19435,CAI19440,CAI19442,CAI19443,CAI19774,CAI19777,CAI19778,CAI19779,EAW71527,EAW71528,EAW71529,EAW71530,EAW71531,EAW71532,BAC20174,BAC20175,BAC20176,BAC20177,BAC20178,BAG51874,BAF82261,BAF82786,BAF84272,BAF84891,BAG62482,AAH17365,AAP35534,BAA24350,AAB61211,O00154 Hs.126137 ACH1|ACT|BACH|CTE-II|LACH|LACH1|MGC1126|RP1-120G22.10|hBACH CTE-IIa|OTTHUMP00000200493|acyl-CoA thioesterase 2|acyl-CoA thioesterase, long chain|brain acyl CoA hydrolase|brain acyl-CoA hydrolase|brain acyl-coa hydrolase|cytosolic acyl coenzyme A thioester hydrolase|long chain acyl-CoA thioester hydrolase protein-coding 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. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 1580863 16756494,10092594,9153233,17624024,16940157,16335799,16141203,16103133,15489334,15194431,14702039,12477932,11780052,11755680,11549316,10944470,10807905,9299485,10799608 10005 NM_005469,AL008726,CH471077,AF014404,AF124264,AK056668,AK292494,AK296973,AK298783,BC117155,BC117157,BI911038,CR541771,CR541778,X86032,BM986979,DB470803 NP_005460,CAC36012,CAC36013,EAW75794,EAW75795,EAW75796,CAA15502,EAW75797,EAW75798,AAB71665,AAD27616,BAG51780,BAF85183,BAG59516,BAG60922,AAI17156,AAI17158,CAG46570,CAG46577,CAA60024,O14734,Q6FHI2,ADR82946 Hs.444776 HNAACTE|PTE-1|PTE-2|PTE1|PTE2|hACTE-III|hTE 4,8-dimethylnonanoyl-coa thioesterase|HIV-Nef associated acyl-CoA thioesterase|HIV-Nef-associated acyl-CoA thioesterase|OTTHUMP00000214962|PTE-1|acyl-coenzyme A thioesterase 8|choloyl-CoA hydrolase|choloyl-coenzyme A thioesterase|hACTEIII|long-chain fatty-acyl-CoA hydrolase|palmitoyl-CoA hydrolase|peroxisomal acyl-CoA thioesterase 1|peroxisomal acyl-coenzyme A thioester hydrolase 1|peroxisomal long-chain acyl-CoA thioesterase 1|thioesterase II|thioesterase III protein-coding 1606811 ACOT9 acyl-CoA thioesterase 9 16103133,14702039,12477932,10810093,10383425 23597 CR601309,CR604879,CR612046,CR612732,CR616902,CR626755,NM_001037171,AC093011,AC131011,CH471074,AF132950,AF241787,AK000659,AK024337,AL548456,BC012573,BC136671,BC144360,BC144370,BX648512,NM_001033583,CR600319,CR618320,NG_016780 Q96EA2,Q9H2R8,Q9Y305,NP_001028755,NP_001032248,EAW98997,EAW98998,AAD27725,AAG44475,BAG51291,AAH12573,AAI36672,AAI44361 Hs.298885 ACATE2|CGI-16|MT-ACT48 OTTHUMP00000023068|OTTHUMP00000215276|acyl-CoA thioester hydrolase 9|acyl-Coenzyme A thioesterase 2, mitochondrial|acyl-coenzyme A thioesterase 9, mitochondrial|mitochondrial Acyl-CoA Thioesterase protein-coding 1344840 ACOX1 acyl-Coenzyme A 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] 1298651,1580863 17081983,16396496,16381901,15489336,15489334,14702039,12477932,11815777,11230166,11076863,10960480,10856712,9373149,8798738,8507686,8159712,8125298,8040306,7668838,1464743,8117268,7876265,18281296,18660489,18536048,17458872,16756494,20195242 1298651 51 NM_004035,NM_007292,NG_008190,AC040980,AC087289,CH471099,U03254,U03268,AK095501,AK225897,AK291793,AK292965,AK296409,AK300447,AK308218,BC008767,BC010425,BX537380,CR595778,CR603405,S69189,U07866,X71440,BQ943492,DC297086,NM_001185039,HB873087,HB882949,HB894278,HC930496,HC940358,HC951687 NP_004026,NP_009223,EAW89349,EAW89350,EAW89351,EAW89352,AAA19114,AAA19113,BAF84482,BAF85654,BAG59073,BAG62169,AAH08767,AAH10425,CAD97622,AAB30019,AAA18595,CAA50574,Q15067,CAL38034,NP_001171968,CBF60587,CBF65740,CBF73135,CBU85830,CBU90611,CBU96027 Hs.464137 ACOX|MGC1198|PALMCOX|SCOX AOX|acyl-CoA oxidase, straight-chain|acyl-Coenzyme A oxidase 1, palmitoyl|palmitoyl-CoA oxidase|peroxisomal acyl-coenzyme A oxidase 1|peroxisomal fatty acyl-CoA oxidase|straight-chain acyl-CoA oxidase protein-coding 735528 ACOX2 acyl-Coenzyme A 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] 1580863,1300345,1300244 8943006,15489334,12477932,9070889,8993592,8387517,16756494,20379614 1300345,1300244 8309 NM_003500,AC116036,AJ001541,CH471055,AK298402,AK313512,BC033517,BC047700,BG698950,BI490007,X95190,HB873093,HB882955,HB894284,HC930502,HC940364,HC951693 NP_003491,CAB65596,EAW65375,EAW65376,EAW65377,BAG60633,BAG36292,AAH47700,CAA64489,Q99424,CBF60593,CBF65743,CBF73142,CBU85833,CBU90614,CBU96030 Hs.444959 BCOX|BRCACOX|BRCOX|THCCox 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase|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 protein-coding 736892 ACOX3 acyl-Coenzyme A 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] 1580863,1300048 9271077,16344560,15599942,15489334,15231748,12477932,9373149,8387517,8125298,20677014,16756494,20877624 8310 NM_001101667,NM_003501,AC104825,CH471131,AK225080,AK313242,BC017053,CA306669,CR590418,CR609446,DA949869,Y11411,HB873065,HB882927,HB894256,HC930474,HC940336,HC951665 NP_001095137,NP_003492,EAW82339,EAW82340,EAW82341,EAW82342,BAG36053,AAH17053,CAA72214,O15254,CBF60575,CBF65729,CBF73112,CBU85819,CBU90600,CBU96016 Hs.479122 BRCACox|OTTHUMP00000219320|acyl-Coenzyme A oxidase 3, pristanoyl|branched-chain acyl-CoA oxidase|peroxisomal acyl-coenzyme A oxidase 3|pristanoyl-CoA oxidase protein-coding 1315641 ACOXL acyl-Coenzyme A oxidase-like 1580863 19773279,20332261,18758461,15146197,14702039,12477932,20731705 55289 NM_001142807,AC023131,AC096591,AC096670,AC114776,CH471237,AK001904,AK300513,BC022268,BC131514,BX282060,CN426904,CX788840 NP_001136279,AAY14838,AAY24074,AAY14796,EAW50357,EAW50358,EAW50359,EAW50360,BAA91970,BAG62225,AAH22268,AAI31515,Q9NUZ1 Hs.253320 FLJ11042 OTTHUMP00000204261|acyl-CoA oxidase-like protein|acyl-coenzyme A oxidase-like protein protein-coding 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] 1300048,2313182,2313184,2313187,2313188,2313186,1625289,1358577,1625288,1580863,2313179,2313180,2313183 20581655,1587862,17353931,19246900,19217450,18992867,18786445,18768081,18604186,18490013,18262048,17703100,17678914,17565542,17472574,17390764,17171650,16973312,16893901,16762482,16344560,16253994,16224193,16189514,16036221,15988697,15974295,15951569,15586390,15489334,15359537,15281007,15230135,14637146,12942785,12815062,12640337,12477932,12438242,20805743,10940933,12418966,12409270,12231445,12167657,12100313,11976341,11971983,11963573,11912546,11785295,11534018,11436564,11369750,10608891,10336608,9705307,9684876,9499402,9038134,8586411,8364553,4356849,4065897,1939112,1627603,1304913,736044,457131,16169070,19569002,19570551,19622628,19789510,20379614,19913121,20587610,20628086,18029348,20816195 2313182,2313184,2313187,2313188,2313186,1358577,1625288,2313179,2313180,2313183 52 NR_024080,NM_007099,NM_001040649,NG_012035,AC079779,CH471053,L06508,U25847,U25849,AB209838,AK289934,AK291861,BC007422,NM_004300,BC020699,BC106011,BI460080,BJ992018,BT007136,BX481618,CR591454,CR597555,CR599434,CR607431,CR609595,CR609802,CR613475,CR624312,DA378283,DB443811,M83653,M83654,M87545,M87546,S62884,S62885,Y16846 NP_004291,NP_009030,NP_001035739,AAY14958,EAX01111,EAX01112,EAX01113,EAX01114,EAX01115,EAX01116,AAB59628,AAC52067,BAD93075,BAF82623,BAF84550,AAH07422,AAI06012,AAP35800,AAB59354,AAB59355,AAB27085,AAB27086,CAA76416,O75702,P24666,Q59EH3 Hs.558296 HAAP|MGC111030|MGC3499 LMW-PTP|LMW-PTPase|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 protein-coding 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] 1300048,1300245,1580863 3191910,2776754,17357082,16344560,15489334,12477932,11801736,9110174,9040486,8619474,7576159,6970673,6651479,6193776,6164873,5410815,3904632,3160696,975882,730175,69583,19064571 1300245 53 NG_023296,NM_001610,NM_001131064,AC018410,CH471064,X15525,X15535,AK308512,AK311431,AY007137,BC003160,BC093010,CR615614,DA382854,DC337294,X12548,AK298122,AK298439,AK299382,AK300569,AK300911,AK300931,AK301860,AK303894 NP_001601,NP_001124536,EAW67950,EAW67951,CAA33542,AAH03160,AAH93010,CAA31064,P11117,ABM83595,ABM86839,BAH12728,BAH12788,BAH13021,BAH13304,BAH13374,BAH13379,BAH13568,BAH14075 Hs.532492 LAP|acid phosphatase 2|lysosomal acid phosphatase protein-coding 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] 1300048,2315882,2315909,2315910,1300346,1580863 2775236,19026169,19010793,18979172,18703035,18410226,18320034,18285546,18221403,18053985,17997709,17357281,17088078,16869970,16620768,16280328,16200454,15993892,15950921,15878315,15701839,15542543,15489334,15342556,12901871,12845688,12820342,12589973,12477932,12450668,12073156,12009023,11983200,10862785,10389595,9521821,9373149,8889548,8449511,8200916,8195113,8188227,8125298,2909539,2808373,2610679,2473026,2334436,1872798,16169070,8359686,2338077,20416078,18421493,19765782,17207965,20967488 2315882,2315909,2315910,1300346 54 NM_001111036,NM_001111035,NM_001111034,NM_001611,AC020947,CH471106,X67123,AK225912,AK290717,AK307164,BC025414,BC111014,BM708166,BP367008,BX365007,CR457078,CR602962,CR615022,CR616016,CR617566,CR618497,CR624625,J04430,X14618,FB775570 NP_001104506,NP_001104505,NP_001104504,NP_001602,EAW84232,EAW84233,EAW84234,BAF83406,AAH25414,AAI11015,CAG33359,AAA76849,CAA32771,P13686,ACE87273,ADQ32269,CAV30742 Hs.1211 MGC117378|TRAP TrATPase|acid phosphatase 5|tartrate-resistant acid ATPase|tartrate-resistant acid phosphatase type 5 protein-coding 1314899 ACP6 acid phosphatase 6, lysophosphatidic 1580863 17207965,20877624,10506173,17353931,16710414,15489334,15340161,15280042,14702039,12975309,12477932,12010880,9820827,16169070 51205 NM_016361,AL359207,CH471223,AB030039,AB031478,AB209248,AK000657,AK308593,AK310693,AY358552,BC009965,BC011644,BC034686,CR457101,CR598748,CR611952,CR613106,CR620074 ADQ32397,NP_057445,CAI15199,BAA94309,BAA89311,BAD92485,BAA91310,AAQ88916,AAH09965,AAH34686,CAG33382,Q9NPH0,EAW50931 Hs.562154 ACPL1|LPAP|PACPL1 acid phosphatase like 1|acid phosphatase-like protein 1|lysophosphatidic acid phosphatase type 6 protein-coding 1342803 ACPL2 acid phosphatase-like 2 1580863 12975309,12477932,19893584,20379614 92370 BC036701,BX647621,CA421956,CD101677,BC035834,NM_152282,NM_001037172,AC022215,AC117383,CH471052,AK074331,AK296292,AK297790,AK316121,AL137529,AY358460 AAH35834,AAH36701,Q8TE99,Q9NT50,NP_689495,NP_001032249,EAW79007,EAW79008,EAW79009,BAB85053,BAH12305,BAH12668,BAH14492,CAB70793,AAQ88825 Hs.657887 FLJ23751 OTTHUMP00000217722|OTTHUMP00000217724|OTTHUMP00000217725|OTTHUMP00000217726|acid phosphatase-like protein 2 protein-coding 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] 1300048,2301055,2301054,2301052,1300346,1300246,1580863 20645695,19403677,19108401,18940592,17638863,17455230,16076555,16004602,15985366,15862967,15578709,15280042,15240830,14690244,14623260,12962324,12719131,12525165,12477932,12362977,12032838,11983210,11833784,11784334,11739538,11547122,11377343,11067847,10851066,10639192,10506719,10477906,10452601,9804805,9708626,9705354,9584847,9187691,8407898,8244395,8132635,8110833,8037752,7951074,7923807,2965059,2842184,2712834,2411954,2395659,1989985,1699876,1696855,1375464,480493,76687,20392611,19301031,19636017,19759923,19902966,20379614,20498373 2301055,2301054,2301052,1300346,1300246 55 NM_001134194,NM_001099,AC020633,CH471052,M97589,U07086,U07097,X71391,X74961,AA578274,AB102888,AK300540,AW136372,BC007460,BC008493,BC016344,BC017877,BQ100881,DC383453,M24902,M34840,X52174,X53605 NP_001127666,NP_001090,EAW79201,EAW79202,EAW79203,EAW79204,EAW79205,AAA60021,AAB60640,CAA50514,CAA52913,BAD89417,BAG62248,AAH07460,AAH08493,AAH16344,AAH17877,AAA60022,AAA69694,CAA36422,CAA37673,P15309,Q5FBY0,Q6LBH1,ABM84074,ABM87442 Hs.433060 ACP-3|ACP3|PAP OTTHUMP00000216107|prostatic acid phosphatase|prostatic acid phosphotase protein-coding 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] 15219672,11414767 93650 NM_033068,AC010325,AF321918,CH471135 NP_149059,AAK09393,AAK09394,AAK09395,AAK09396,EAW71900,EAW71901,EAW71902,EAW71903,EAW71904,Q9BZG2,AAI40295,AAI46507 Hs.293394 testicular acid phosphatase protein-coding 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. 1580863 1937464,6802470,6815104,15950652,10418103,3880736,10369396,12398221,16344560,15955892,15461802,12931362,12801583,12477932,11839395,11739644,11076863,10734459,6357995,2606479,2550339,2493394,2298447,2114285,1907596,1783391,1628652,15782160,7521127,15950651 49 NM_001097,AC000036,AC002056,CH471138,M77378,M77379,M77380,M77381,X54017,X66188,AK310316,CR456366,DB054152,Y00970 NP_001088,EAW73587,EAW73588,AAA51572,AAA51573,AAA51574,AAA51575,CAA37964,CAA46956,CAG30252,CAA68784,P10323,AAI11594,CAK54364,CAK54663 Hs.370870 acrosin|preproacrosin|proacrosin protein-coding 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] 1580863 16301813,15489334,12477932,11248070,20876808 84519 NM_032489,AC135892,CH471116,AB051833,AF085884,AK302290,AK311572,AK312782,BC033010 NP_115878,EAW88774,BAB39388,BAG63630,BAG35645,AAH33010,Q8NEB7,ABM81798,ABM84954 Hs.123239 CT23|FLJ51160|OY-TES-1|SP32 acrosin-binding protein|cancer/testis antigen 23|cancer/testis antigen OY-TES-1|proacrosin binding protein sp32 protein-coding 1346265 ACRC acidic repeat containing 1580863 16344560,14702039,11714101,12477932 93953 NM_052957,AL590763,CH471132,AJ311392,AK097433,AK127607,BC136259,DB073623 NP_443189,EAX05284,CAC60255,BAC05051,BAG54533,AAI36260,Q96QF7 Hs.135167 NAAR1 OTTHUMP00000032172|acidic repeat-containing protein|putative nuclear protein protein-coding 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. This gene consists of 4 exons and its alternative splicing generates multiple distinct transcripts, which encode protein isoforms ranging from 81 to 265 amino acids. The longest transcript is the most abundant, comprising 53-72% of the total acrosomal vesicle protein 1 messages; the second largest transcript comprises 15-32%; the third and the fourth largest transcripts account for 3.4-8.3% and 8.7-12.5%, respectively; and the remaining transcripts combined account for < 1% of the total acrosomal vesicle protein 1 message. It is suggested that phenomena of cryptic splicing and exon skipping occur within this gene. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration, and it is a potential contraceptive vaccine immunogen for humans. [provided by RefSeq] 1580863 1693291,15489334,12477932,11730901,9373149,8373955,8288254,8125298,7888499,7619499,2298314,1637938 56 AAB34927,AAB34928,AAB34929,AAB34930,AAB34931,AAB34933,AAB34935,AAB34936 BG720361,BI826178,DB446200,NM_020069,NM_020115,NM_020110,NM_020107,NM_020113,NM_020108,NM_020111,NM_020109,AP001132,CH471065,NM_001612,S65576,S65578,S65583,S65606,AB451476,AK223335,BC014588,H93373,M82967,M82968,HC006756 AAB34930,AAB34931,AAB34933,AAB34935,AAB34936,P26436,NP_001603,NP_064454,NP_064500,NP_064495,NP_064492,NP_064498,NP_064493,NP_064496,NP_064494,EAW67648,EAW67649,EAW67650,EAW67651,EAW67652,EAW67653,EAW67654,EAW67655,EAW67656,EAW67657,EAW67658,EAW67659,AAB28238,BAG70290,BAD97055,AAH14588,AAA36625,AAA36626,AAB34927,AAB34928,AAB34929,CBH19184 Hs.169222,Hs.596575 D11S4365|SP-10|SPACA2 acrosomal protein SP-10|sperm protein 10 protein-coding 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] 19240061,15800013,14702039,14516277,12975357,12477932,11112418,10954726,9734811,9110174,8619474,20691247,20379614,15464426,16371355 23205 NM_015162,AC090260,AC090607,CH471136,AF070624,AF179481,AK054882,AK294202,AK295269,AK299597,AK314508,BC009289,BC040252,HB881625,HC939034,DC401742,NM_001199377 ABM87427,ABW03887,Q96GR2,NP_055977,EAW99180,AAG09404,BAG51439,BAH11696,BAH12022,BAH13077,BAG37108,AAH09289,CBF65091,CBU89962,NP_001186306 Hs.655760 BG|BG1|BGM|FLJ30320|GR-LACS|KIAA0631|LPD|MGC14352|hBG1|hsBG bubblegum|hsBGM|lipidosin|lipodisin|long-chain-fatty-acid--CoA ligase ACSBG1|ortholog of rodent gonadotropin-regulated long chain acyl-CoA synthetase|very long-chain acyl-CoA synthetase protein-coding 1604279 ACSBG2 acyl-CoA synthetase bubblegum family member 2 16762313,16371355,15685348,14702039,12975309,12477932,11230166,9373149,8125298 81616 NM_030924,AC011471,AC104538,AK057412,AK093433,AK225862,AK302604,AL040604,AL136854,AY009107,AY358766,BC022027,BC090046,BI561348,CH471139,AJ577571,HC006758 NP_112186,CAE12157,BAB71476,BAG52714,BAG63853,CAB66788,AAG49398,AAQ89126,AAH22027,AAH90046,CAE12156,Q5FVE4,ABM81759,EAW69111,ABM84914,ACE87201,ACE86522,CBH19185 Hs.465720 BGR|BRGL|DKFZp434K1635|MGC111089|PRTD-NY3|PRTDNY3 BGR-like|bubblegum-related protein|long-chain-fatty-acid--CoA ligase ACSBG2 protein-coding 1604594 ACSF2 acyl-CoA synthetase family member 2 17762044,16380219,12975309,12477932,9373149,8889548,8125298,20877624 80221 NM_025149,AC004707,AC021491,CH471109,AK024573,AK225044,AK225561,AK294205,AK295258,AK300145,AK300625,AK308584,AY358660,BC012053,BC014123,CA945050,CR617763,DC384989 NP_079425,EAW94612,BAB14930,BAG57517,BAG58247,BAG61931,BAG62317,AAQ89023,AAH12053,AAH14123,Q96CM8 Hs.288959 ACSMW|AVYV493|FLJ20920 OTTHUMP00000221348|OTTHUMP00000221349|OTTHUMP00000221350|PPARG binding, long chain fatty acid acyl Co-A ligase like|acyl-CoA synthetase family member 2, mitochondrial protein-coding 1604214 ACSF3 acyl-CoA synthetase family member 3 17762044,18029348,16344560,16303743,14702039,12477932,20877624 197322 NM_001127214,NR_023316,AC009113,AC135782,CH471184,CS051329,AK075499,AK096561,AK290963,BC028399,BC064609,BC072391,CR606678,NM_174917,CR623892,CR624745,CR976321,DA062861,CR615543,HI573908 NP_777577,NP_001120686,EAW66744,CAI72159,BAC11654,BAF83652,AAH28399,AAH64609,AAH72391,Q4G176,Q6P2C7,CBX47443 Hs.461727 FLJ39242 acyl-CoA synthetase family member 3, mitochondrial protein-coding 1342971 ACSL1 acyl-CoA synthetase long-chain family member 1 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. [provided by RefSeq] 70279,1625737,1625735,1625742,2317576 20176858,10548543,1531127,16054041,18660489,16834775,15489334,15292367,14702039,12477932,8889548,8584017,8399326,7948012,7490105,7429333,2973813,2341402,2007410,1607358,1599407,20877624,8944226 70279,1625737,1625735,1625742,2317576 2180 NM_001995,AC079257,AC084871,CH471056,AK096117,AK292798,AK296550,AK296826,AK303486,BC026290,BC033479,BC050073,BG680610,BG773086,BI461964,BM982557,CR597120,CR598751,CR614171,D10040,DQ083028,DQ083029,L09229,HB881341,HC938750 NP_001986,EAX04662,EAX04663,EAX04664,EAX04665,BAC04704,BAF85487,BAH12385,BAH12438,BAG64522,AAH26290,AAH50073,BAA00931,AAZ30711,AAZ30712,AAB00959,P33121,Q108N1,Q108N2,CBF64949,CBU89820 Hs.406678 ACS1|FACL1|FACL2|LACS|LACS1|LACS2 LACS 1|LACS 2|OTTHUMP00000218457|OTTHUMP00000218460|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 protein-coding 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] 2317576 20308079,20219900,8663269,17220478,19221603,18003621,17901542,17761945,16354793,15556626,15489334,15302935,15292367,14702039,12477932,11707336,9177793,8889548,7987323,6240978,1848073,1433226,20605918,17379924,8944226 2317576 2181 NM_004457,NM_203372,AB061436,AC013476,AC016712,CH471063,AB061712,AF116690,AI378485,AK001471,AK023191,AK314621,BC012066,BC032144,BC041692,BF679686,BG772246,BM971377,BQ435549,BX472576,CR608706,D89053,N44998,HB881571,HC938980 NP_004448,NP_976251,BAB72139,EAW70807,EAW70808,EAW70809,BAB72074,AAF71110,BAG50918,BAG51167,BAG37187,AAH32144,AAH41692,BAA37142,O95573,Q6PIM8,Q9P1E5,CBF65064,CBU89935 Hs.655772 ACS3|FACL3|PRO2194 LACS 3|fatty-acid-Coenzyme A ligase, long-chain 3|lignoceroyl-CoA synthase|long-chain acyl-CoA synthetase 3|long-chain-fatty-acid--CoA ligase 3 protein-coding 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] 1580863,2317576 8944226,10669417,19617635,20351714,9480748,9598324,18029348,19346733,18614287,18059177,17934335,16276108,15849811,15489334,15292367,15146197,15108178,12949969,12824887,12525535,12477932,11889465,11731423,10874125,9598718,1567471 2317576 2182 NM_022977,NG_008053,AB061711,AL118496,AL138968,AL590647,CH471120,AB061713,AB061714,AF030555,AK292070,AK294915,AK307566,BC034959,BQ016115,CN310691,CR603171,DR004263,Y12777,Y13058,NM_004458 NP_004449,NP_075266,BAB88649,CAI42299,CAI42036,EAX02671,EAX02672,EAX02673,EAX02674,BAB86900,BAB86901,AAC17493,BAF84759,BAG58000,AAH34959,CAA73314,CAA73501,O60488,Q8TAF6,ABM81761,ABM84916 Hs.268785 ACS4|FACL4|LACS4|MRX63|MRX68 LACS 4|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 protein-coding 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] 2317576 8944226,11707336,11319232,11127823,9373149,8125298,19218499,18806831,18228202,17761945,17681178,17495181,16198472,15809837,15736044,15489334,15292367,15164054,14608540,12975309,12477932,12147264,20470896,16385451,20379614,20877624 2317576 51703 NM_203379,NM_203380,NM_016234,AB033920,AJ347687,AL157786,CH471066,CS248458,AB033899,AJ496489,AK000339,AK024932,AK222782,AK223288,AK301786,AK310436,AL708480,AM262166,AY358520,BC007985,CD689921,CF595490 NP_976313,NP_976314,NP_057318,BAA86054,CAC79123,CAH72510,EAW49532,EAW49533,EAW49534,EAW49535,EAW49536,EAW49537,EAW49538,EAW49539,CAJ56749,BAA85979,CAD43000,BAG63242,CAK18174,AAQ88884,AAH07985,Q9ULC5,ABM84192,ABM87595 Hs.11638 ACS2|ACS5|FACL5 FACL5 for fatty acid coenzyme A ligase 5|LACS 5|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 protein-coding 1349836 ACSL6 acyl-CoA synthetase long-chain family member 6 Long-chain acyl-CoA synthetases (EC 6.2.1.3), such as ACSL6, catalyze the formation of acyl-CoA from fatty acids, ATP, and CoA (Malhotra et al., 1999 [PubMed 10548543]).[supplied by OMIM] 1580863,2315920,1599805,1599808,2317576 8944226,10548543,18804346,18718982,18555221,17567994,17030554,16834775,16827919,16806233,16572202,15292367,14702039,12477932,10502316,10048485,12767919,19064571,20379614,20429931 2315920,1599805,1599808,2317576 23305 NM_015256,NM_001009185,AC034228,CH471062,AB020644,AF099740,AF102845,AF129166,AK122702,AK294291,AK314452,AW952652,BC026161,BC047453,BI545119,BI548729,CR606980,DQ083030,DQ083031,DQ655980 NP_056071,NP_001009185,EAW62355,EAW62356,EAW62357,EAW62358,EAW62359,EAW62360,BAA74860,AAD17853,AAD47199,BAG53676,BAG57574,BAG37060,AAH26161,AAH47453,AAZ30713,AAZ30714,Q4G191,Q9UKU0 Hs.14945 ACS2|FACL6|FLJ16173|KIAA0837|LACS 6|LACS2|LACS5 OTTHUMP00000065953|OTTHUMP00000065954|OTTHUMP00000065955|OTTHUMP00000065957|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 protein-coding 1315639 ACSM1 acyl-CoA synthetase medium-chain family member 1 1580863 18632593,18347602,15361761,14702039,12654705,12477932,11470804,19913121,20628086,20679960,20185149,20877624 116285 NM_052956,AB062503,AC003034,AC020926,AC141273,CH471228,AB059429,AK092574,AK314282,BC125177,BC125178 NP_443188,BAB68363,AAC23498,EAW66826,EAW66827,EAW66828,BAB64535,BAG36941,AAI25178,AAI25179,O75203,Q08AH1 Hs.306812 BUCS1|MACS1|MGC150532 Butyrate CoA ligase|acyl-coenzyme A synthetase ACSM1, mitochondrial|butyrate--CoA ligase 1|butyryl Coenzyme A synthetase 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 1606171 ACSM2A acyl-CoA synthetase medium-chain family member 2A 2317576 19345228,16344560,14702039,12477932,10493829,20877624 2317576 123876 NM_001010845,AC003034,AC137056,AI340924,AK055867,AK091878,AK096039,AK096132,AK298359,AK298434,AK303774,BC125175,BC125176,DA034571,DC362857,AK091978 NP_001010845,AAC23497,BAG51587,BAG53201,BAH12766,BAG60655,BAH14046,AAI25177,Q08AH3,BAC03784,Q8NAW3 Hs.298252,Hs.656497 A-923A4.1|ACSM2|FLJ34659|MGC150530 Homolog of rat kidney-specific (KS)|acyl-coenzyme A synthetase ACSM2A, mitochondrial|butyrate--CoA ligase 2A|butyryl-coenzyme A synthetase 2A|middle-chain acyl-CoA synthetase 2A protein-coding 1604166 ACSM2B acyl-CoA synthetase medium-chain family member 2B 2317576 16521160,15221005,15122652,12616642,11415461,10434065,8934636,8884467,20679960 2317576 348158 NM_001105069,NM_182617,AC141053,AC141273,AB073604,AK129944,AK289416,AK309601,AY160217,BC026010,DC329427,DC362610,DC362960,DC362964,DC412825 NP_001098539,NP_872423,BAD38642,BAF82105,AAO17576,Q68CK6,AAI72335 Hs.298252,Hs.567879 ACSM2|HXMA|HYST1046 acyl-CoA synthetase medium-chain family member 2|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 735798 ACSM3 acyl-CoA synthetase medium-chain family member 3 1579978,1601004,634023,2317576 19913121,20628086,20679960,19578796,20084102,20379614,7907320,19262474,19108963,18660489,18519841,18192838,17278971,17070428,15361761,14567496,12484505,12477932,12046348,11772874,11470804,11158418,10493829,9373149,8135833,8125298,7843754,20877624 1579978,1601004,634023,2317576 6296 NM_005622,NM_202000,AC004381,CH471228,AK223139,AK290322,AK296122,BC002790,BI770558,BI826935,BM828310,BU170035,CA425752,D16350,X80062 NP_005613,NP_973729,AAC31667,EAW66834,EAW66835,BAD96859,BAF83011,BAG58869,AAH02790,BAA03853,CAA56369,Q53FZ2,ABM83905,ABM87226,ABW03856 Hs.706754 SA|SAH 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 1642901 ACSM4 acyl-CoA synthetase medium-chain family member 4 2317576 17762044,20877624 2317576 341392 NM_001080454,AC131205 NP_001073923,P0C7M7 Hs.450804 acyl-coenzyme A synthetase ACSM4, mitochondrial protein-coding 1603027 ACSM5 acyl-CoA synthetase medium-chain family member 5 17762044,12477932,11752456,20383146,20877624 54988 NM_017888,AC137056,CH471186,AK000588,AV648626,AV653851,AV696798,BC013753,BC016703,BC068516,BX505437 NP_060358,EAW50317,EAW50318,EAW50319,BAA91273,AAH13753,AAH16703,AAH68516,Q6NUN0 Hs.659606 FLJ20581 acyl-coenzyme A synthetase ACSM5, mitochondrial protein-coding 1314754 ACSS1 acyl-CoA synthetase short-chain family member 1 An acetyl-CoA synthetase found in the mitochondrial matrix has been characterized in both cow and mouse. It is primarily a cardiac enzyme which produces acetyl-CoA mainly for the oxidation of acetate. The protein encoded by this gene is structurally similar to the cow and mouse proteins and therefore may serve a similar function in humans. [provided by RefSeq] 1580863,2317576 15489334,14702039,12477932,11780052,11347906,11150295,11214971,20877624,16788062,19535340,19724895,19851296,20198315,20379614 2317576 84532 AL035661,AL080312,CH471133,AB058749,AK024396,AK024424,AK027817,AK090851,AK092295,AK094414,AK125058,AK125923,AK127566,AK296306,AK314440,AL832939,AL833041,BC032076,BC039261,BC044588,NM_032501,BC055008,BC114612,CR593620,CR616020,CR624354 NP_115890,CAI21828,CAI18916,CAI18917,EAX10106,EAX10107,EAX10108,EAX10109,EAX10110,EAX10111,BAB47475,BAB15714,BAB55390,BAC03530,BAC03853,BAC86035,BAG54524,BAG59005,CAH56320,CAH56303,AAH39261,AAH44588,AAH55008,AAI14613,Q1RMZ4,Q5TF43,Q658R1,Q658X4,Q6ZV30,Q7Z5G3,Q8N2B9,Q9H7Q4,Q9NUB1 Hs.529353 ACAS2L|AceCS2L|FLJ45659|MGC33843 acetate--CoA ligase 2|acetyl-Coenzyme A synthetase 2 (AMP forming)-like|acetyl-coenzyme A synthetase 2-like, mitochondrial|acetyl-coenzyme a synthetase 2 (amp forming)-like protein-coding 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] 1580863,2317576 19913121,20628086,10843999,15231747,18029348,18660489,16788062,16344560,15489334,14702039,12477932,11780052,20353815,19617323,20416077 2317576 55902 AL049709,AL133324,CH471077,AF263614,AI674262,AK000162,AK000188,AK022608,AK025990,AK092281,AK098026,AK293634,AL359946,BC010141,BC012172,BC073846,BC098422,CR620320,CR749716,DA411343,DA626707,DA628275,DA630609,NM_001076552,NM_018677,NG_011520,NR_028046 CAI19725,CAI19726,CAI19311,CAI19312,EAW76242,EAW76243,EAW76244,EAW76245,EAW76246,EAW76247,EAW76248,AAF75064,BAB14127,BAC03849,BAG53564,BAG57090,AAH10141,AAH12172,AAH73846,AAH98422,CAH18485,Q5QPH3,Q68CU9,Q6DKJ3,Q8N238,Q96FY7,Q9H9U4,Q9NR19,NP_001070020,NP_061147 Hs.517034 ACAS2|ACECS|ACS|ACSA|DKFZp762G026|dJ1161H23.1 acetate thiokinase|acetate--CoA ligase|acetate-CoA ligase|acetyl-Coenzyme A synthetase 2 (ADP forming)|acetyl-coenzyme A synthetase, cytoplasmic|acetyl-coenzyme a synthetase 2 (adp forming)|acyl-activating enzyme|cytoplasmic acetyl-coenzyme A synthetase protein-coding 1603012 ACSS3 acyl-CoA synthetase short-chain family member 3 17762044,12477932,20379614 79611 NM_024560,AC078920,AC078955,AC134506,CH471054,AK025616,AK074267,AK074938,BC009317,BC015769,HC890635,HC895167 NP_078836,EAW97372,EAW97373,BAB15190,BAC11304,AAH09317,AAH15769,Q9H6R3,CBN59805,CBN62022 Hs.259559 FLJ21963 acyl-CoA synthetase short-chain family member 3, mitochondrial protein-coding 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] 1298659,1559154,1598720,1300347,1300247 20332100,10508519,12849983,11333380,15198992,19389844,19383239,19150851,19002257,18976909,18461503,18063690,17387733,16945536,16916647,16427282,15679046,15520409,15507486,15489334,15468086,15454575,15336687,15236405,15152255,15107502,15072110,14702039,14684598,14668487,14640694,14576350,14506234,11429692,11415434,11309382,11259305,11171322,11166164,11106625,11090452,11071908,11053353,11027608,11018051,10984435,10958653,10882740,10793131,10666339,10628374,10601340,10583954,10581178,10575001,10564664,10559237,10438535,10366597,10224093,10072583,9852149,9832551,9792688,9724539,9668039,9645951,9512503,9490638,9417078,9298982,9251807,9214391,9199170,8999969,8612804,8567732,8422497,8413665,8258301,7908614,7908020,7820861,7816144,7780165,7703225,7680654,7503723,6893424,6865942,6190133,3842206,3793760,2936753,2907503,2455687,2395459,2161834,1808202,1544421,1383230,1074709,648524,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,11297527,11441066,12438125,12417592,8416954,9153421,17010111,10806479,15149849,11897493,10320340,12062430,12577067,12695497,14507647,15059972,14594945,14592989,14634002,10491393,11691822,12384700,14688263,9695962,12438242,15494313,12554937,20452215,16568092,20809254,12857853,12721663,12714565,12665555,12571245,12534372,12480535,12477932,12475945,12466270,12417594,12388543,12383268,12210873,12163017,12127568,12119014,12048248,12044158,12033495,12006649,11969288,11950878,11889126,11877456,11850458,11839310,11821948,11812134,11795944,11707283,11702052,11701614,11583571,11580270,11536049,11524436,11481347,11468283,11461920,11438522,20169155,20630939,1423520,17082770,19233165,19562689,19634497,19635823,19819966,19934221,19948975,20100475,20201926,20378355,20388088,7642559,20179953,16501887,20686692,20718862 1298659,1559154,1598720,1300347,1300247 58 CR541796,J00068,NG_006672,AF182035,AL160004,CH471098,M20543,AK096902,AK300697,AL598491,AY280960,BC012597,BX648545,CR536516,NM_001100 CAG38754,CAG46595,AAB59376,P68133,Q7Z7J6,ABM83875,ABM87196,NP_001091,AAF02694,CAI19050,CAI19051,CAI19052,EAW69898,AAA60296,BAG53395,BAH13327,AAP37280,AAH12597 Hs.1288 ACTA|ASMA|CFTD|CFTD1|CFTDM|MPFD|NEM1|NEM2|NEM3 OTTHUMP00000037465|actin alpha 1|actin, alpha skeletal muscle|alpha skeletal muscle actin|alpha-actin-1 protein-coding 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] 1298662 19285011,19261809,17994018,17786474,17626241,16289162,16115228,16051665,15862967,15588509,15555551,15489334,15342556,15164054,12477932,12119014,11812134,11707283,11580270,11037796,10628374,10341211,9546431,9512352,8138584,7780165,6725286,6330528,3842206,2701935,2612915,2398629,2295650,2022339,1969628,1939373,1555776,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,14530271,20694011,20381122,14627618,15032605,16385451,16548883,16573163,19409525,19639654,19654303,19683985,19745835,19788615,20128380,20237496,20689142,20734336,19913121,20628086 1298662 59 NM_001141945,NG_011541,AL157394,CH471066,D00618,K01741,K01742,K01743,K01744,K01745,K01746,K01747,M33216,AK300664,AK313294,AY692464,BC017554,BC093052,BP379410,NM_001613,BQ029841,CR536518,CR590615,CR591183,CR592949,CR597033,CR619420,CR621459,CR622200,DC304647,DC354672,DC385559,J05192,X13839,GU143396 NP_001604,NP_001135417,CAI13864,CAI13865,EAW50153,EAW50154,EAW50155,BAA00492,AAA51586,AAA60560,BAG62350,BAG36101,AAW29811,AAH17554,AAH93052,CAG38756,AAA51577,CAA32064,P62736,Q13707,Q5T9N7,ABM83317,ABM86532,ACZ58370 Hs.500483 AAT6|ACTSA actin, aortic smooth muscle|alpha 2 actin|alpha-actin-2|alpha-cardiac actin|cell growth-inhibiting gene 46 protein|growth-inhibiting gene 46 protein-coding 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] 1298665,1300347 20308691,18478542,12082080,17502619,17342765,6202424,16130169,19377461,10966108,19538885,19475567,19451231,19309309,18533937,18364388,18261463,17939680,17651734,17548472,17373842,17181997,16824795,16762366,16685646,16549430,16536728,16375898,16289162,16210567,16189514,16148048,16146415,16021519,15952740,15940343,15897890,15862967,15711563,15673434,15592455,15574586,15556561,15555571,15527767,15489334,15231748,15111311,15101111,15009185,15009096,14966270,14760703,14702039,14634002,14623863,14592989,12963728,12853948,12704194,12673016,12670476,12665801,12591166,12547197,12522145,12477932,12470643,12456645,12435603,12388067,12080081,12062430,12029088,12009869,11983702,11964161,11955010,11950878,11950601,11940582,11937625,11854414,11846445,11832213,11812134,11790298,11787062,11721045,11709093,11707406,11696420,11691822,11673475,11580269,11579089,11563969,11535601,11533442,11532003,11415434,11373276,11350761,11326315,11257002,11238447,11078522,11029056,11027608,10945978,10866806,10851017,10833443,10792467,10787407,10773068,10748209,10683146,10677499,10604479,10601251,10600384,10470109,10470015,10411937,10403844,10381382,10078207,10074138,10049817,9971772,9848710,9848085,9847074,9845365,9813091,9739080,9686908,9676236,9563518,9525888,9487115,9463375,9373149,9359436,9295142,9268132,9252372,9209005,9150887,9108196,9013719,8941379,8913639,8892894,8780737,8761950,8661406,8639502,8619402,8605189,8547189,8341682,8319567,8125298,8050815,7929073,7876308,7876306,7103951,6865942,6842590,6686106,6322116,6304075,3842206,3335520,2994062,2837653,2155660,1734024,1662743,1629950,1555776,1505215,435297,274701,10556093,16526095,9841925,7535922,1540415,8997639,1991513,1907279,15710247,15371598,14694110,16091223,15140972,14597672,9288906,11461920,11357136,11839798,12639940,15558034,15361876,15502823,15135048,12679033,15107502,15328537,17289661,17643375,18680169,19041431,19477923,19638415,19802004,20197409,20201613,20381070,18809673 1298665,1300347 60 NM_001101,NG_007992,AC006483,AY582799,AY970442,CH471144,CS081475,M10277,AK025375,AK058019,AK098751,AK130062,AK130157,AK222925,AK223032,AK223055,AK225414,AK301372,AK304552,AK308277,AK309997,AK316361,BC001301,BC002409,BC004251,BC008633,BC009636,BC012854,BC013380,BC013835,BC014401,BC014861,BC016045,BC023204,BC113036,CR589970,CR590046,CR590103,CR590210,CR590288,CR590411,CR590447,CR590683,CR590710,CR590978,CR591097,CR591224,CR591465,CR591660,CR591927,CR592262,CR592292,CR592305,CR592670,CR592795,CR593025,CR593072,CR593321,CR593592,CR593598,CR593734,CR593796,CR593813,CR593865,CR593896,CR593937,CR594038,CR594076,CR594099,CR594381,CR594884,CR594985,CR595182,CR595291,CR595306,CR595496,CR595695,CR595806,CR595832,CR596176,CR596290,CR596673,CR596787,CR597018,CR597103,CR597466,CR597659,CR598089,CR598272,CR598372,CR598425,CR598697,CR599179,CR599235,CR599455,CR599624,CR599635,CR599891,CR600186,CR600392,CR600532,CR600579,CR601026,CR601052,CR601086,CR601448,CR601524,CR601565,CR601870,CR602020,CR602174,CR602333,CR602339,CR602443,CR602445,CR602851,CR602874,CR602929,CR602945,CR603213,CR603387,CR603390,CR603726,CR604039,CR604921,CR605511,CR605646,CR605718,CR605790,CR605924,CR606116,CR606861,CR607015,CR607619,CR607692,CR607921,CR607957,CR608132,CR608206,CR608226,CR608297,CR608353,CR608667,CR608988,CR609007,CR609017,CR609136,CR609188,CR609310,CR609542,CR610012,CR610041,CR611051,CR611285,CR611384,CR611429,CR611696,CR611749,CR611763,CR612057,CR612491,CR612788,CR612812,CR612952,CR612992,CR613219,CR613422,CR613471,CR613926,CR614505,CR614558,CR614609,CR614723,CR614901,CR615388,CR615653,CR616113,CR616143,CR616407,CR616607,CR616639,CR616679,CR616681,CR616694,CR616918,CR616937,CR616986,CR617137,CR617259,CR617334,CR617617,CR618716,CR618940,CR619592,CR619607,CR619615,CR619662,CR619957,CR619970,CR620171,CR620197,CR620246,CR620258,CR621112,CR621117,CR621183,CR621189,CR621402,CR621548,CR621625,CR621635,CR622089,CR622223,CR622502,CR622603,CR622634,CR622700,CR622834,CR623430,CR624202,CR624251,CR624284,CR624351,CR624852,CR625087,CR625492,CR625602,CR626030,DQ407611,DQ471327,EF036500,EF095209,K00790,M28424,V00478,X00351,X63432,CR606701,FB571104,FB668235,GN346972 NP_001092,AAP22343,AAS79319,AAX82251,EAW87341,EAW87343,CAI95947,AAA51567,BAD96645,BAD96752,BAD96775,BAG65347,BAH14732,AAH01301,AAH02409,AAH04251,AAH08633,AAH12854,AAH13380,AAH14861,AAH16045,AAI13037,BAG62914,ABD66582,ABF01018,ABO65086,ABL01513,AAA51578,AAB16906,CAA23745,CAA25099,CAA45026,A0AUL6,P60709,Q1KLZ0,Q53G76,Q53G99,Q53GK6,Q562L3,Q562S0,Q9UE89,Q9UMN3,ABM85054,ABM81886,CAR95103,CAS92761,CAY56012 Hs.520640 PS1TP5BP1 PS1TP5-binding protein 1|actin, cytoplasmic 1|beta cytoskeletal actin protein-coding 1603843 ACTBL2 actin, beta-like 2 16824795,12477932 345651 NM_001017992,AC025470,AY970384,AY970433,AY970451,AY970452,CH471123,BC137470,BC137473,BX648504 NP_001017992,AAX82193,AAX82242,AAX82259,AAX82260,EAW54967,AAI37471,AAI37474,Q562R1 Hs.482167 ACT|DKFZp686D0972 actin-like protein|beta-actin-like protein 2|kappa-actin|similar to riken cdna 4732495g21 gene protein-coding 1349890 ACTBP1 actin, beta pseudogene 1 3837182 61 1353115 ACTBP10 actin, beta pseudogene 10 446207 2293113 ACTBP11 actin, beta pseudogene 11 644220 NG_007577,AC096542 pseudo 1344030 ACTBP2 actin, beta pseudogene 2 6571702,3837182 62 NG_003019,AC035147 pseudo 1353051 ACTBP3 actin, beta pseudogene 3 63 1350369 ACTBP4 actin, beta pseudogene 4 3837182 64 NG_003020,AC008695 pseudo 1348315 ACTBP5 actin, beta pseudogene 5 65 1345201 ACTBP6 actin, beta pseudogene 6 66 NG_008793,AC091175,M55014 H8-PSI-BETA-AC3 pseudo 1351732 ACTBP7 actin, beta pseudogene 7 1298666 6571702,6296793 1298666 67 NG_002724,AC090516,V00479 pseudo 1348995 ACTBP8 actin, beta pseudogene 8 1298666 20339536,9345905,6571702,6296793,1561114 1298666 68 NG_000840,AL139042,V00481 ACTBP2 pseudo 1346494 ACTBP9 actin, beta pseudogene 9 1298670 8941379 1298670 69 NG_003162,D50604,AC100843 pseudo 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] 1298672,1559158,1598724,1598727,1598729,1300348,1300248 20835239,8913639,8163527,8127865,7780165,6689196,6584914,6310553,6273789,6272269,3789022,1762945,1639426,1602151,1246600,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,18952430,18515362,18513529,18506004,18477565,18403758,16967490,16754800,16199542,15489334,15337165,14988412,14760703,14702039,14507647,12721663,12554937,12477932,12452439,12445881,12438125,12417592,12408964,12358155,12271120,12270929,12207032,12139639,12136158,12134071,12118075,12110694,12087068,12063253,12042308,12029088,12019562,12011427,11997265,11983702,11968018,11936879,10966831,10847344,10528865,10494087,10330430,9848085,16611632,17765196,9563954,17611253,17947298,19293840,12898519,16169070,16288873,19799913,19853701,19875404,20031618,20086309,20359594,20474083,20962418,19913121,20628086 1298672,1559158,1598724,1598727,1598729,1300348,1300248 70 NM_005159,NG_007553,AC087457,CH471125,J00070,J00071,J00072,J00073,AI222203,AK056592,AK129892,AK129902,AK290616,BC009978,CR541795,CR737466,DB504220 NP_005150,EAW92316,EAW92317,EAW92318,AAB59619,BAG51757,BAF83305,AAH09978,CAG46594,P68032,ABM84022,ABM87368 Hs.118127 ACTC|ASD5|CMD1R|CMH11|LVNC4 actin alpha cardiac 1|actin, alpha cardiac muscle 1|alpha-cardiac actin protein-coding 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 nonmuscle cells. [provided by RefSeq] 1331525 16189514,16130169,19548389,19110265,19008859,18804074,17914456,17722883,17693642,17285762,17220478,16901892,16824795,16773128,16690605,16569662,16365169,16236267,16179592,16169070,15759055,15618548,15489334,15231748,15163409,15009185,14760703,14684684,13680526,12665801,12612070,12519370,12477932,12470643,12388543,12372613,12052877,12029070,12009869,11941484,11733011,11709093,11474115,10970852,10958671,10925289,10903505,10848969,10781580,10713718,10662538,10074138,10049817,9971772,9808630,9362513,9245787,9199338,9153421,8941379,8892894,8761950,8661406,8630056,8617195,8612804,8416954,8399167,8228254,7849017,7820861,6893424,6865942,6686106,3737401,3510866,3472224,3335520,2837653,1602151,1331119,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,14597672,9288906,12481031,10772929,12874605,12835311,14565974,14576350,9535896,15746964,12665555,12082080,17088428,12679033,17643375,19477959,19638415,20381070 1331525 71 CR615214,CR615291,CR615292,CR615492,CR615511,CR615976,CR616006,CR616609,CR616940,CR616966,CR616969,CR616983,CR617232,CR617404,CR617643,CR617657,CR617867,CR617915,CR618617,CR618764,CR618978,CR619007,CR619201,CR619367,CR619574,CR619691,CR619914,CR619966,CR620121,CR620218,CR620630,CR620790,CR620806,CR620836,CR621190,CR621390,CR621646,CR621747,CR621813,CR621873,CR622024,CR622164,CR622438,CR622814,CR623020,CR623123,CR623145,CR623642,CR623959,CR624265,CR624832,CR624836,CR625300,CR625364,CR625920,CR626047,CR626452,CR626577,M16247,X04098,CR603085,CR603292,CR603639,CR603777,CR603981,CR604033,CR604282,CR604384,CR604519,CR604531,CR604825,CR605043,CR605191,CR605249,CR605598,CR605767,CR606117,CR606124,CR606241,CR606346,CR606439,CR607909,CR608395,CR608951,CR609271,CR609318,CR609401,CR609414,CR609723,CR609909,CR610111,CR610162,CR610496,CR610665,CR610691,CR610710,CR610785,CR610810,CR611108,CR611432,CR611433,CR611536,CR611607,CR611625,CR612114,CR612364,CR612408,CR612443,CR612488,CR612527,CR612577,CR612705,CR612862,CR612876,CR613019,CR613104,CR614104,CR614439,CR614730,CR614891,CR615028,CR615078,CR615212,DB455954,NM_001199954,NR_037688,NG_011433,AC139149,AY970363,AY970364,AY970365,AY970366,AY970367,NM_001614,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,M19283,AK291937,AK301175,AK304637,BC000292,BC001920,BC004223,BC007442,BC009544,BC009848,BC010417,BC010999,BC012050,BC015005,BC015695,BC015779,BC017450,BC018774,BC018861,BC023548,BC039144,BC053572,BC063495,BT019856,CR590228,CR590320,CR590345,CR590376,CR590591,CR590603,CR590980,CR591079,CR591159,CR591211,CR591509,CR591533,CR591798,CR592121,CR592239,CR592652,CR592707,CR592730,CR592736,CR593879,CR593892,CR594098,CR594198,CR594416,CR594425,CR594480,CR594511,CR594886,CR594922,CR595093,CR595096,CR595246,CR595449,CR595688,CR595732,CR595791,CR595991,CR596062,CR596065,CR596102,CR596522,CR596575,CR596618,CR597169,CR597397,CR597456,CR597492,CR597515,CR597615,CR597730,CR597843,CR597885,CR598076,CR598244,CR598395,CR598534,CR598734,CR598828,CR598831,CR598898,CR598949,CR598971,CR599045,CR599592,CR599672,CR599678,CR599814,CR599830,CR599892,CR599978,CR600128,CR600154,CR600669,CR600687,CR600758,CR600832,CR601487,CR601583,CR601927,CR602100,CR602227,CR602295,CR602348,CR602399,CR602472,CR602480,CR602599,CR602869,HC250969,HC311158 AAX82295,AAA51580,CAA27723,P63261,Q562L5,Q562L6,Q562L9,Q562M3,Q562M5,Q562N0,Q562N2,Q562N8,Q562P0,Q562R8,Q562U1,Q562U2,Q562V5,Q562X9,Q562Y6,Q562Y8,Q562Z4,Q562Z6,Q562Z7,Q6PJ43,Q8WVW5,Q96DE1,Q96FU6,Q9BTD2,ABM82300,ABW03432,ACE87712,ACE87025,NP_001186883,NP_001605,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,AAX82296,AAX82297,AAX82298,AAX82299,AAX82300,AAX82301,AAX82302,AAX82303,AAX82304,AAX82305,AAX82306,AAX82307,AAA51579,BAF84626,BAG62762,BAG65416,AAH00292,AAH01920,AAH04223,AAH07442,AAH09544,AAH09848,AAH10417,AAH12050,AAH15005,AAH15695,AAH15779,AAH17450,AAH18774,AAH23548,AAH53572,AAV38659,AAH10999,CBJ05782,CBJ21234 Hs.514581 ACT|ACTG|DFNA20|DFNA26 actin, cytoplasmic 2|cytoskeletal gamma-actin|gamma-actin protein-coding 3207729 ACTG1P11 actin, gamma 1 pseudogene 11 9847074 414754 AC024183,NG_004636 pseudo 737318 ACTG2 actin, gamma 2, smooth muscle, enteric 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 2, encoded by this gene, is a smooth muscle actin found in enteric tissues. [provided by RefSeq] 1300349,1300249 17934296,17554369,17009076,16824795,15862967,15815621,15489334,14702039,12612070,12477932,12450213,10655297,8530021,7759108,2377475,1710027,1673027,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,12670476,14627618,19797053 1300349,1300249 72 NM_001615,AC073046,AY970439,AY970440,CH471053,D00654,AK124338,AK304523,AK310215,AK312955,BC012617,BC094877,BI850192,CR536515,CR541794,X16940,NM_001199893 NP_001606,AAX88909,AAX82248,AAX82249,EAW99712,EAW99713,BAA00546,BAG54029,BAG65327,BAG35794,AAH12617,AAH94877,CAG38753,CAG46593,CAA34814,P63267,Q562S2,ABM83873,ABM87194,NP_001186822 Hs.516105 ACT|ACTA3|ACTE|ACTL3|ACTSG OTTHUMP00000202509|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 protein-coding 1345992 ACTGP1 actin, gamma pseudogene 1 8941379 73 NG_001068,AC097103,D50658,M55082 ACT1GP1|ACTGP1|HY-psi-gamma-AC6 pseudo 1349704 ACTGP10 actin, gamma pseudogene 10 6592095 83 NG_003039,AL139396 ACTGP10|ACTL1|ACTP1 pseudo 1342717 ACTGP2 actin, gamma pseudogene 2 12815422,9847074 74 NG_004636,AC007742 ACTGP2|ACTL2 pseudo 1351647 ACTGP3 actin, gamma pseudogene 3 1298670 10978293,8941379,3748813 1298670 75 NG_000842,AF196978,AF196979,AL031665,D50657,X04224 ACTGP3|dJ545L17.4 pseudo 1349352 ACTGP4 actin, gamma pseudogene 4 1692956 76 1347270 ACTGP5 actin, gamma pseudogene 5 1692956,1692956 77,100462767 AL451010,NG_026958 ACTGP5 pseudo 1344031 ACTGP6 actin, gamma pseudogene 6 1692956 78 1354054 ACTGP7 actin, gamma pseudogene 7 1692956 79 1351015 ACTGP8 actin, gamma pseudogene 8 1692956 80 1342857 ACTGP9 actin, gamma pseudogene 9 8941379 82 NG_001069,AL035701,D50659 ACTGP9 pseudo 1348277 ACTL4 actin-like 4 84 1345012 ACTL5 actin-like 5 1406950 85 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] 19279220,9845365,10966108,11256614,17081983,16189514,15647280,15489334,15196461,14966270,14743216,14702039,14503849,12963728,12837248,12665591,12477932,12437990,12353638,11839798,11734557,11509179,11342225,11266125,11230166,11078522,10611965,10380635,10078207,9710619,9373149,8125298,11784859,16169070,8895581,14966289,16387653,17643375,17207965,18809673,19720835,19759913 86 NM_004301,NM_177989,AC090425,AC126184,CH471052,AA256726,AB015907,AB060168,AB061315,AF041474,AK021756,NM_178042,AK098691,AK223212,AL136608,BC000949,BC001391,BC035463,BC036371,CR533529,CR594699,CR597700,CR602120,CR613774,CR621230 NP_829888,NP_004292,NP_817126,EAW78397,EAW78398,EAW78399,EAW78400,EAW78401,BAA74577,BAB87844,BAB87848,AAC94991,BAG51043,BAD96932,CAB66543,AAH00949,AAH01391,AAH36371,CAG38560,O96019,Q53FS0,Q6FI97,ACE87542,ACE86855,ADQ32750 Hs.435326 ACTL6|ARPN-BETA|Arp4|BAF53A|INO80K|MGC5382 53 kDa BRG1-associated factor A|BAF complex 53 kDa subunit|BAF53|BRG1-associated factor 53A|INO80 complex subunit K|actin-like protein 6A|actin-related protein 4|actin-related protein Baf53a|arpNbeta|hArpN beta protein-coding 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] 1580863 16169070,17207965,10380635,15489334,12853948,12690205,12565893,12477932,12437990,12368262,10611965,9847074,9799793,8889548,19913121,20628086 51412 NM_016188,AC099394,AF053356,CH236956,CH471091,AB015906,AF041475,AK314940,BC008582,BC020944,BM696009,CR594945,CR599365,CR621374 ADQ32375,NP_057272,AAP21874,AAC78795,EAL23823,EAW76502,EAW76503,EAW76504,EAW76505,BAA74576,AAD54678,BAG37446,AAH20944,O94805 Hs.259831 ACTL6|BAF53B 53 kDa BRG1-associated factor B|BRG1-associated factor 53B|actin-like 6|actin-like protein 6B|actin-related protein Baf53b|arpNalpha|hArpN alpha protein-coding 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] 1580863 10373328,15489334,15164053,12695497,12571287,12477932,10611965,18720898 10881 NM_006687,AB284520,AF113526,AL359692,CH471105,AK314981,BC014610,HC006760 NP_006678,BAF41971,AAD44109,CAI40571,EAW59026,BAG37480,AAH14610,Q9Y615,CBH19186 Hs.123530 actin-like 7-alpha|actin-like protein 7A|actin-like-7-alpha protein-coding 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] 1580863 10373328,16344560,15489334,15164053,14702039,12907721,12477932,10611965 10880 NM_006686,AB284521,AF113527,AL359692,CH471105,AI150021,AK097670,AK313871,BC033789,DB021848,HC006762,HC044497 NP_006677,BAF41972,AAD44110,CAI40570,EAW59025,BAG53508,BAG36599,AAH33789,Q9Y614,CBH19187,CBH30578 Hs.534390 Tact1 actin-like 7-beta|actin-like protein 7B|actin-like-7-beta protein-coding 1602092 ACTL8 actin-like 8 14702039,12477932,18029348 81569 NM_030812,AL136529,CH471134,AK057339,BC028909,BI826094,CR611452,U20582 NP_110439,CAC15940,EAW94846,BAB71434,AAH28909,AAA62476,Q9H568 Hs.2149 CT57 OTTHUMP00000002612|actin like protein|actin-like protein 8|cancer/testis antigen 57 protein-coding 1602048 ACTL9 actin-like 9 12477932 284382 NM_178525,AC093230,AK292258,AY248901,BC024028,BC045752 NP_848620,BAF84947,AAP20052,AAH24028,AAH45752,Q8TC94 Hs.209206 HSD21|MGC33407 actin-like protein 9 protein-coding 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] 1298684,1300350,1580863 10029173,19715605,12223541,12211109,11973348,11972044,11854440,11846417,11842093,11802708,11739652,11724819,11573089,11470434,11423549,11369769,11305911,11114196,11113628,11110697,10926853,10833443,10801846,10470015,10369880,10224105,7983147,10793131,15988023,16807302,18029348,1629252,19094982,18978946,18560563,18519573,18408146,18353764,17944866,17898132,17525629,17311919,17115122,17081983,16951376,16820411,16713569,16430917,16396496,16195373,16190873,16189514,16097034,15710624,15489334,15070900,14702039,12837758,12695497,12665801,12642359,12615977,12507293,12499399,12493766,12477932,12446711,10198040,9599291,9373149,9030526,8713105,8125298,7829101,7790378,7750553,2780298,2349951,2169343,1720388,8997639,1991513,10753915,2116421,12628297,9535896,12023963,14623081,14630798,15147863,15159419,15604093,16291744,17965186,19247474,19750481,20037648,20156433,20936779,20634891 1298684,1300350 87 CR620987,DC321454,DC372566,DQ496098,EU716325,FJ410030,M95178,X15804,X55187,NM_001130004,NM_001130005,AL117694,CH471061,AJ844628,AK098203,AK225782,AK294317,AK295099,AK298496,AK299362,BC003576,BC004984,BC015766,BC127124,BI494856,BT007207,BX248020,BX641076,CR609497,NM_001102,AK124378 ABF50047,ACE62922,ACJ24535,AAA51582,CAA33803,CAA38970,P12814,Q1HE25,Q5ZEZ4,Q86TX4,ABM81704,ABM86694,NP_001093,NP_001123476,NP_001123477,EAW80971,EAW80972,EAW80973,EAW80974,EAW80975,EAW80976,CAH59747,BAG53591,BAG57591,BAG58135,BAH12801,BAG61357,AAH03576,AAH15766,AAI27125,AAP35871,CAD62344 Hs.509765 FLJ40884|FLJ54432 F-actin cross-linking protein|actinin 1 smooth muscle|alpha-actinin 1|alpha-actinin cytoskeletal isoform|alpha-actinin-1|non-muscle alpha-actinin-1 protein-coding 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. [provided by RefSeq] 1298582,1559161,1559162,1559160,1580863 11699871,10427098,9501083,8104223,1339456,9817758,11846417,10656685,16807302,12356918,12809483,15841212,18029348,1629252,19150855,19086053,18687124,18513529,17110593,16713569,16120608,15843396,15737636,15489334,15072553,14565974,12860415,12837758,12812986,12477932,12446711,12435606,12358155,12140183,12006649,11842093,11724819,11440986,11389904,11309420,11171996,11114196,10984498,10931874,10861853,10812072,10788519,10548523,10391924,9952395,9728925,9030526,9009191,8609175,1505962,9675099,16169070,12559088,12815021,14622581,14630798,15604093,16902413,19696509,19815520,19932097,20022194,20201926,20379614,20398908,20474083,8615909,8665664,9481670,10373510,16712791 1298582,1559161,1559162,1559160 88 NM_001103,NG_009081,AJ249756,AJ249757,AJ249758,AJ249759,AJ249760,AJ249761,AJ249762,AJ249763,AJ249764,AJ249765,AJ249766,AJ249767,AJ249768,AJ249769,AJ249770,AJ249771,AJ249772,AJ249773,AJ249774,AJ249775,AJ249776,AL359185,AL359921,CH471098,M86804,AB209521,AK294906,AK297469,AK297618,AK297628,AK297886,AK315250,BC047901,BC051770,CB153006,CR593118,DC378038,M86406 NP_001094,CAB61269,CAH73201,CAI13778,EAW70064,EAW70065,AAA51584,BAD92758,BAH11921,BAH12587,BAH12632,BAH12634,BAH12687,BAG37672,AAH47901,AAH51770,AAA51583,P35609,Q59FD9 Hs.498178 CMD1AA F-actin cross-linking protein|alpha-actinin skeletal muscle|alpha-actinin-2 protein-coding 734136 ACTN3 actinin, alpha 3 Alpha-actinin is an actin-binding protein with multiple roles in different cell types. This gene expression is limited to skeletal muscle. It is localized to the Z-disc and analogous dense bodies, where it helps to anchor the myofibrillar actin filaments [provided by RefSeq] 1298582,1580863 12477932,11440986,11309420,10656685,10192379,9675099,8104223,11171996,15841212,1339456,16807302,1629252,19422651,19405879,19237423,19150855,19038838,19016781,18801770,18756004,18718976,18687124,18676575,18651373,18637739,18470530,18043716,17986906,17879893,17848603,17630210,17627799,17560787,17550918,17468578,17339648,17033684,16612741,15886711,15817725,15808860,15718405,15489334,15221860,12879365,12837758,12692149,19544227,19696509,19807896,20005538,20010124,20013558,20044471,20044476,20069311,20089531,20148371,20222007,20459474,19913121,20561285,20628086,20734058,20699471,20830656,20845221,20952631,20966103,21072744 1298582 89 NM_001104,AP002748,CH471076,AK125851,AK303044,AK313556,BC096323,BC099647,BC099648,BC099649,M86407,NG_013304 NP_001095,EAW74546,BAG64164,BAG36331,AAH96323,AAH99647,AAH99648,AAH99649,AAA51585,Q08043,Q4JCP9,Q4VAM3 Hs.654432 MGC117002|MGC117005 F-actin cross-linking protein|OTTHUMP00000219049|OTTHUMP00000219054|actinin alpha 3|alpha-actinin skeletal muscle|alpha-actinin-3 protein-coding 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] 1580863,1598731,1300349 12411747,8104223,15841212,9508771,15048094,11948184,16807302,18029348,15619032,1629252,19357256,19151661,19142020,18765526,18726620,18552466,18436095,18362906,18215660,18180332,18164029,17968527,17901210,17873890,17438131,17018644,16980305,16951376,16713569,16396496,16344560,16251236,16189514,15780077,15772161,15592455,15588985,15493875,15489334,15152255,15070900,12960352,12837758,12617336,12477932,12093915,12042308,11882289,11739652,11733011,11724819,11382784,11358829,11160423,10915794,10753915,10700177,10673389,10656685,9461087,2116421,1602151,10556093,11707406,14630798,16204054,16944923,17289661,19447967,19666657,19672209,19913389,19920151,19956976,20037648,20156433,20197409,20201926,20819441,15342556,16341674,20936779,19913121,20628086,20519146 1598731,1300349 81 NM_004924,NG_007082,AC008649,AC022144,CH471126,AA478431,AK299955,AK304554,D89980,DQ431186,U48734,AK309361,AK309363,AK309364,AU118403,BC005033,BC015620,BX647098,CR596416,CR621299,GU987085,AA847056,BM841805,BP332596 NP_004915,EAW56809,EAW56810,EAW56811,BAG61782,BAA24447,ABD96103,AAC17470,O43707,Q96BG6,ABM84365,ABM87776,BAG65349,AAH05033,AAH15620,ADG03678 Hs.270291,Hs.712632 ACTININ-4|DKFZp686K23158|FSGS|FSGS1 F-actin cross-linking protein|actinin alpha 4|actinin alpha4 isoform|alpha-actinin-4|non-muscle alpha-actinin 4 protein-coding 1315176 ACTR10 actin-related protein 10 homolog (S. cerevisiae) 1580863 16712791,16341674,15489334,14702039,12857853,12477932,9373149,8125298 55860 NM_018477,AL121579,AL132989,CH471061,AF220190,AK000544,AK022248,AK022534,AK222624,AK222702,AK315537,BC005208,BC011997,BM750953,BX161491,BX248282,CB135721,CR592445,CR595103,CR595382,CR599113,CR600466,CR601293,CR602344,CR605561,CR606184,CR608130,CR613415,CR613652,CR614724,CR616561,CR617931,CR621042,CR621866,CR623992,CR626759 NP_060947,EAW80714,AAF67655,BAA91243,BAB14083,BAD96344,BAD96422,BAG37916,AAH05208,AAH11997,CAD61940,CAD62610,Q05DQ7,Q53H79,Q53HF6,Q86SY7,Q86TY2,Q9NZ32,ABM82220,ABM85404 Hs.509451 ACTR11|Arp11|HARP11 actin-related protein 10|actin-related protein 11 protein-coding 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] 1528266,7696711,18303113,16381901,15489336,15489334,15164054,14702039,12871323,12477932,11461920,11256614,11076863,10671518,10671377,10607828,10504299,10196146,10074429,9499420,8991093,7878030,7518465,1356230,11357136,11483508,11076968,12221128,12852856,16462731,7790358 10121 AAB23391 NM_005736,NG_011901,AL121928,CH471066,AK096085,AK297362,AK297620,AK302072,AK312506,BC000693,BC026016,CR598823,CR600058,CR602189,CR603093,CR610318,CR615015,CR623554,CR623924,CR624758,DC384284,X82206,Z14978 NP_005727,CAC08404,EAW49685,EAW49686,EAW49687,EAW49688,BAG59809,BAG59996,BAG63461,BAG35407,AAH00693,AAH26016,CAA57690,CAA78701,P61163,AAB23391,CAL38013,ABM83615,ABM86860 Hs.153961 ARP1|CTRN1|FLJ52695|FLJ52800|FLJ55002 actin-RPV|alpha-centractin|centractin|centrosome-associated actin homolog protein-coding 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. 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, like ACTR1A, is an actin-related protein. These two proteins are of equal length and share 90% amino acid identity. They are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq] 1580863 12857853,7696711,17619203,15815621,15489334,12477932,11256614,10343100,16169070,19996280 10120 NM_005735,AC017099,CH471127,BC004374,BC006372,BC010090,BC025274,CR611704,X82207,X82208 NP_005726,AAY24280,EAX01923,EAX01924,EAX01925,EAX01926,EAX01927,EAX01928,AAH04374,AAH06372,AAH10090,CAA57691,CAA57692,P42025,Q13841,ABM84364,ABM87747 Hs.98791 ARP1B|CTRN2|PC3 actin-related protein 1B|beta-centractin|centractin beta protein-coding 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] 631743 15834156,19641626,19913427,20404198,17353931,9230079,19286135,19262673,18720401,18516090,17501982,17459058,17085436,16638851,16403731,16253999,16004967,15741236,15489334,15469433,15385624,15247266,15242766,15146197,12872157,12791263,12672817,12534372,12515716,12477932,12473693,12468383,12464680,12429845,12200375,12176354,12036877,12019562,11741539,11721045,11706047,11146629,11052943,11018051,10781580,10563804,10524632,10421578,10381382,9889097,9359840,9210376,9000076,10880444 631743 10097 NM_005722,AC007318,CH471053,AF006082,AK295157,AK301634,AK315205,AL049356,BC014546,BC036253,BI670123,BQ425220,BQ684301,BU184246,BX491447,BX649080,CN291246,CR593126,DC404298,W15444,NM_001005386 NP_001005386,NP_005713,EAW99908,EAW99909,EAW99910,EAW99911,EAW99912,EAW99913,EAW99914,AAB64187,BAG58171,BAG63117,BAG37642,AAH14546,AAH36253,P61160,Q8IY98,ACE87419,ACE86733 Hs.643727,Hs.727556 ARP2 actin-like protein 2|actin-related protein 2 protein-coding 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. [provided by RefSeq] 631743 20974812,17353931,9230079,19286135,19262673,18516090,17576929,17524364,17501982,17085436,16403731,16253999,16004967,15741236,15635413,15592455,15489334,15469433,15385624,15279900,15247266,15242766,12872157,12829704,12791263,12672817,12477932,12473693,12464680,12429845,12200375,12176742,10381382,9889097,9860974,9359840,9210376,9000076,12534372,10421578,12176354,12036877,11882288,11790298,11741539,11721045,11146629,11052943,11018051,10806390,10781580,10563804,10524632,19913427,20404198 631743 10096 NM_005721,AC110769,CH471103,AB209353,AF006083,AF127773,AK300030,AK300224,AK302152,AK302359,AK303988,AK312659,AK316213,AK316396,AL832773,BC044590 NP_005712,AAX93226,EAW95179,EAW95180,EAW95181,EAW95182,BAD92590,AAB64188,AAD51904,BAG61841,BAG61992,BAG63523,BAG63684,BAG64905,BAG35542,BAH14584,BAH14767,AAH44590,P61158,Q53QM2,Q59FV6 Hs.433512 ARP3 actin-like protein 3|actin-related protein 3|actin-related protein 3 homolog (yeast) protein-coding 1603621 ACTR3B ARP3 actin-related protein 3 homolog B (yeast) 17353931,14702039,14651955,12853948,12477932,11162478,10806390,10047519,16169070,20379614 57180 AK315534,AK316078,BC008682,BC015207,AK294292,CR592677,CR603830,CR604196,CR615185,DB570472,NM_020445,NM_001040135,AC072057,AC092180,CH471209,AB209174,AF023453,AF086920,AK001198 BAG57575,BAG37914,BAH14449,AAH08682,AAH15207,Q59GD5,Q75LP0,Q96BT2,Q9P1U1,ABM85680,ABW03746,NP_065178,NP_001035225,AAS07430,EAW80446,BAD92411,AAC98904,AAP97150,BAG50867 Hs.647117 ARP11|ARP3BETA|DKFZp686O24114 ARP3-beta|OTTHUMP00000200055|actin-like protein 3B|actin-related protein 3-beta|actin-related protein 3B|actin-related protein ARP4|actin-related protein Arp11 protein-coding 3004191 ACTR3BP1 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 1 9847074 643050 AC134879,NG_005799 pseudo 4108510 ACTR3BP2 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 2 440888 AC128677,AY026351,CH471366,NR_027714 AAK31777,EAW50837,EAW50838,Q9BWW1 FKSG73 pseudo 4108537 ACTR3BP3 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 3 647156 AC138915,CH471357,NG_005800 Q9BWW0,EAW51523 pseudo 4109091 ACTR3BP4 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 4 9847074 777774 AC083826,NG_005802 pseudo 4109585 ACTR3BP5 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 5 399746 AL133173,AY026352,NG_005798 AAK31778 FKSG74 pseudo 4109092 ACTR3BP6 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 6 644773 AP000546,AP000547,AY026350,NG_005801 AAK31776,Q9BWW2 pseudo 2923209 ACTR3C ARP3 actin-related protein 3 homolog C (yeast) 11162478,14651955,16344560,8889548 653857 AB039791,AC005586,AC006008,AK130039,BM674900,BX640643,DA868104,DN992136,DR004860,NM_001164458,NM_001164459 BAB21501,BAC85283,CAI56711,NP_001157930,NP_001157931,Q6ZP42,Q9C0K3 Hs.664579 ARP11 actin-related Arp11|actin-related protein 11|actin-related protein 3C protein-coding 1343118 ACTR3P1 ARP3 actin-related protein 3 homolog (yeast) pseudogene 1 446208,100288580 AE000521,AE000658,NG_023029 pseudo 4108897 ACTR3P2 ARP3 actin-related protein 3 homolog (yeast) pseudogene 2 100129013 AL353587,NG_022669 pseudo 4109173 ACTR3P3 ARP3 actin-related protein 3 homolog (yeast) pseudogene 3 100128020 AC093008,NG_022261 pseudo 1317453 ACTR5 ARP5 actin-related protein 5 homolog (yeast) 19014934,16230350,15489334,14702039,12601173,12477932,11780052,17643375,20197409 79913 NM_024855,AL133519,CH471077,AK022847,AY211911,BC001324,BC006162,BC038402,BF529768 NP_079131,CAD37358,EAW76010,EAW76011,BAB14270,AAO65164,AAH01324,AAH06162,AAH38402,Q9H9F9 Hs.371585 Arp5|FLJ12785|INO80M INO80 complex subunit M|actin-related protein 5|hARP5|sarcoma antigen NY-SAR-16 protein-coding 1312146 ACTR6 ARP6 actin-related protein 6 homolog (yeast) 737633,1580863 16487625,15489334,14702039,12477932,11368909,9373149,8125298,17643375,17207965 737633 64431 NM_022496,AC010203,AC026110,CH471054,AB038229,AF161399,AF175226,AF212251,AK023495,AK023684,AK124075,AK222959,AK296991,BC015107,BC042997,BC050679,CR590822,CR592230,CR596881,CR598015,CR609733,CR614672,CR615608,CR618558,CR622632 NP_071941,EAW97623,EAW97624,EAW97625,EAW97626,EAW97627,BAB20762,AAF28959,AAQ13651,AAK14934,BAB14588,BAB14640,BAG53999,BAD96679,BAG59531,AAH15107,Q53GH2,Q7Z4D2,Q9GZN1,Q9P0A0,ADQ31805 Hs.115088 ARP6|CDA12|FLJ13433|HSPC281|MSTP136|hARP6|hARPX actin-related protein 6 protein-coding 1323563 ACTR8 ARP8 actin-related protein 8 homolog (yeast) 1580863 21048031,18163988,17081983,16230350,15188402,14702039,12477932,20971067,16344560,17643375 93973 NM_022899,AC012467,CH471055,AK022996,AK026232,AK094507,BC032744,BU070174,BX354684,DA453867 NP_075050,EAW65300,BAB14352,BAB15402,BAG52879,AAH32744,Q8N566,Q9H981 Hs.412186 ARP8|FLJ12934|FLJ22579|INO80N INO80 complex subunit N|OTTHUMP00000213228|actin-related protein 8 protein-coding 1605289 ACTRT1 actin-related protein T1 15772651,15489334,12477932,12243744 139741 NM_138289,CH471107,Z74696,AF440739,AY251532,BC014597,DB452140,DB510229,NG_021358 NP_612146,EAX11839,CAI42428,AAM00432,AAP20055,AAH14597,Q8TDG2,ACE87525,ACE86838 Hs.680125 AIP1|ARIP1|ARP-T1|ARPT1|HSD27|KIAA0705|MGC26590 actin-related protein T1 protein-coding 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] 18029348,15489334,15342556,12477932,12243744,11750065 140625 NM_080431,AL356984,CH471248,AB057364,AF440740,AK058153,AK314500,AW016204,BC029499,BI825639,BP370015,HC006780 CAH72587,NP_536356,EAW61142,BAB85862,AAM00433,BAB71690,BAG37100,AAH29499,Q8TDY3,Q96LK1,ABM82186,ABM85372,CBH19196 Hs.236635 ARPM2|ARPT2|Arp-T2|FLJ25424|HARPM2 actin-related protein M2|actin-related protein T2|actin-related protein hArpM2 protein-coding 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] 1559169,2313802,1580863,2317217 19929436,18292470,18234825,18019378,17572636,17496924,17351709,16344560,15761153,15489334,12651901,12477932,12032389,11969340,11266516,11069203,10652350,10583507,10085121,9872992,9748228,9501322,9267036,9136927,8702914,8622651,8612709,8599089,8397373,8389764,8248234,8006002,7890683,7791754,20463014,10631143,10665670,12065756,8242742,12702211,18436533,9884026,16642017,19574343,19543505,19506109,19400542,19330033,19300893,19299629,19148527,19085907,19064572,19028479,18952055,18854405,18830232,18684712,19335617,19736306,19796185,19896889,19996292,20011542,20634197,20677014,20716560,20734064 1559169,2313802,2317217 90 HI574330,HM015588,BC036748,CR623544,DA796090,L02911,Z22534,NM_001111067,NM_001105,NG_008004,A38807,AC013731,AC019186,CH471058,AK297765,AK313630,BC033867,HB448223 ADL14509,CBX47654,AAA36614,CAA80256,Q04771,Q53SF4,Q53SV1,AAH33867,NP_001104537,NP_001096,CAA02405,AAY24272,AAY15094,EAX11438,EAX11439,EAX11440,EAX11441,EAX11442,EAX11443,BAG60113,CAZ91465 Hs.470316 ACTRI|ACVR1A|ACVRLK2|ALK2|FOP|SKR1|TSRI OTTHUMP00000204604|OTTHUMP00000204626|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 protein-coding 1349804 ACVR1B activin A receptor, type IB 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 a 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 IB receptor, composed of 11 exons. Alternative splicing and alternative polyadenylation result in 3 fully described transcript variants. The mRNA expression of variants 1, 2, and 3 is confirmed, and a potential fourth variant contains an alternative exon 8 and lacks exons 9 through 11, but its mRNA expression has not been confirmed. [provided by RefSeq] 1559169,1598735,1580888,1580863,2317217 12919325,20226172,20347265,20379614,7890768,12065756,12665502,8622651,14517293,18039968,16720724,11117535,9884026,9032295,8397373,19035567,17906079,15489334,15459392,15196700,15123686,12651901,12639945,12477932,12364468,12112843,12032389,12023024,11969340,11909953,11279102,11278302,11266516,11248065,10652306,9892009,9501322,8612709,8196624,8058741,9202237,9738003,7791754,11356828,20734064,20819778,21063444 1559169,1598735,1580888,2317217 91 NG_022926,NM_020327,NM_020328,AC025259,CH471111,L31848,AK299120,AK299496,AL117643,BC000254,BC034008,BC040531,BT007072,L10125,L10126,U14722,Z22536,NM_004302 NP_004293,NP_064732,NP_064733,EAW58216,EAW58217,EAW58218,AAA53349,AAA53350,AAA53351,BAH12954,BAH13051,AAH00254,AAH40531,AAP35735,AAA60555,AAA60556,AAA50246,CAA80258,P36896,ACE87427,ACE86741 Hs.438918 ACTRIB|ACVRLK4|ALK4|SKR2 activin A receptor, type II-like kinase 4|activin receptor type-1B|activin receptor-like kinase 4|serine/threonine-protein kinase receptor R2 protein-coding 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] 1580863 12063393,15531507,19275893,18951876,18784254,18480259,16603637,15815621,15489334,15196700,15150278,15107418,12606401,12477932,11485994,20734064 130399 NM_145259,NM_001111031,NM_001111032,NM_001111033,AC019186,AC079750,CH471058,CS173113,CS173115,CS173117,AF525679,AF525680,AF525681,AW014016,AY127050,BC022530,BC030101,BI601014 NP_660302,NP_001104501,NP_001104502,NP_001104503,AAY15093,AAX88951,EAX11444,EAX11445,EAX11446,CAJ33702,CAJ33703,CAJ33704,AAP21993,AAP21994,AAP21995,AAM93495,AAH22530,Q53SF5,Q8NER5,ABM86496,ABW03656 Hs.562901 ACVRLK7|ALK7 ACTR-IC|ALK-7|activin receptor type IC|activin receptor type-1C|activin receptor-like kinase 7 1643253 BW133_H protein-coding 731811 ACVR2A activin A receptor, type IIA This gene encodes activin A type II 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 (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. [provided by RefSeq] 1559169,2301061,2301065,1580863,2317217,2325239 16982625,19503063,19574343,20011542,20197483,20200332,20379614,20424473,20339536,14691305,12667445,12651901,12477932,12385827,12213882,12135884,12032389,11969340,11882656,11266516,11069203,10702675,10681527,10638976,10504300,10323406,10187774,9872992,9748228,8702914,8640777,8622651,8612709,8243335,8242742,1646080,1311955,9892009,9202237,9032295,12665502,10746731,7890768,18436533,14738881,1314589,17356069,19308291,19126782,19064572,18941508,18781190,18001154,17472960,17456004,17258738,16672363,16380996,16337854,15815621,15621726,15489334,15451561,14988818,20634197,20734064 1559169,2301061,2301065,2317217,2325239 92 NM_001616,CH471058,AK301629,AK314124,BC067416,BC067417,BC067418,BC069707,BX645435,D31770,M93415,X62381,X63128,AC009480 NP_001607,AAX93050,EAX11561,EAX11562,BAG63114,BAG36815,AAH67417,AAH67418,AAH69707,BAA06548,AAA35504,CAA44245,CAA44839,P27037 Hs.470174 ACTRII|ACVR2 OTTHUMP00000197918|activin receptor iia|activin receptor type-2A protein-coding 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] 1559169,1300351,1580863 9748228,9621519,9202237,8702914,8612709,9872992,10504300,15304227,8622651,14517293,15621726,18436533,9916847,12493773,14738881,8161782,17356069,17893364,17347381,15489334,15451561,15342556,15123686,12782414,12651901,12477932,11969340,11882656,11459935,11306176,11279102,11278302,11266516,10766733,10702675,10391213,10212081,15064755,16845371,19453261,20424473,20466801,20734064 1559169,1300351 93 NM_001106,NG_011791,AB008681,AF060200,AF060201,AF060202,AP006191,CH471055,AB209449,AF075005,BC096243,BC096244,BC096245,BC099642,BP352716,X77533 NP_001097,BAA24180,AAC64515,EAW64536,BAD92686,AAC28458,AAH96243,AAH96244,AAH96245,AAH99642,CAA54671,Q13705,Q4VAU9,Q59FL1,Q71UM3 Hs.174273 ACTRIIB|ActR-IIB|MGC116908 activin receptor type-2B protein-coding 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] 1601116,1559169,1580863,1598736,1300352,1601117,1300250 11266516,16049014,18974388,19357124,19506300,19592636,19903896,20056902,20065063,20346360,20424473,20124460,16752392,12453878,17068149,12393874,14684682,15702480,18029348,19508727,19494318,19366699,19270816,19051722,18972447,18949376,18855162,18829861,18673552,18607909,18543223,18498373,18333754,18312453,18309101,18285823,18187665,18159113,18065769,17786384,17620321,17388964,17311849,17224686,12065756,8242742,20414677,17219009,11279102,11278302,11170071,10767348,10716993,10694922,10187774,9651680,9245985,8928814,8717052,8640225,8397373,16941203,16861286,16785228,16776339,16705692,16542389,16540754,16525724,16470589,16429404,16179574,15951295,15880681,15712271,15712270,15687131,15611116,15517393,15489334,15024723,14702039,14580334,12920067,12477932,12114496,11484689,11356828,20587022,20501893,19913121,20628086,20734064 1601116,1559169,1598736,1300352,1601117,1300250 94 NM_000020,NM_001077401,NG_009549,A38805,AC025259,CH471111,U77707,U77708,U77709,U77710,U77711,U77712,U77713,AK056725,AK298493,AK300619,AK303331,BC042637,CR596233,CR599504,DN999570,L17075,Z22533,HM161905,HM161906 NP_000011,NP_001070869,CAA02404,EAW58211,EAW58212,EAW58213,EAW58214,AAB61900,BAG60701,BAG62312,BAG64396,AAH42637,AAA16160,CAA80255,P37023,ADJ79922,ADJ79923 Hs.591026 ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I 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 protein-coding 1351880 ACY1 aminoacylase 1 Aminoacylase-1 is a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. ACY1 has been assigned to 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 ACY1 is the first member of a new family of zinc-binding enzymes. [provided by RefSeq] 1298689,1580863 1707030,8394326,18341290,17045186,16465618,16274666,16189514,15489334,12933810,12477932,8357837,6948533,2542383,11154063,11250542,12548635,15028279,15927344,15953868,16313167,16404153,16889417,16962797,17516490,17562838,20480396,2745715,373141,6248297,6781469,6803586,7974002 1298689 95 NM_000666,NG_012036,AC115284,CH471055,AK298274,BC000545,BC003023,BC014112,CR594696,CR597055,CR604769,CR607052,CR608049,CR615795,CR619739,CR622490,CR622719,D14524,D16307,L07548,BE269642,CD014023,CD014026,CD014027,NM_001198895,NM_001198896,NM_001198897,NM_001198898 NP_000657,EAW65181,BAG60535,AAH00545,AAH03023,AAH14112,BAA03397,BAA03814,AAA02852,Q03154,ABM82834,ABM87833,NP_001185824,NP_001185825,NP_001185826,NP_001185827 Hs.334707 ACY-1|ACY1D|ACYLASE ACY-1|N-acyl-L-amino-acid amidohydrolase|OTTHUMP00000212459|OTTHUMP00000212462|OTTHUMP00000212463|OTTHUMP00000212464|OTTHUMP00000220363|acylase|aminoacylase-1 protein-coding 1353319 ACY1L aminoacylase 1-like 96 1352202 ACY3 aspartoacylase (aminocyclase) 3 1580863 15489334,14656720,12477932,19486448,17207965 91703 NM_080658,AP003385,CH471076,AF359506,AY032593,AY040761,AY169233,BC008689 NP_542389,EAW74663,EAW74664,AAM00248,AAK51135,AAK94770,AAN87896,AAH08689,Q8TDM2,Q96HD9,ADQ32340 Hs.126265 ACY-3|HCBP1|MGC9740 acylase III|aminoacylase-3|aspartoacylase-2|hepatitis C virus core-binding protein 1 protein-coding 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] 1298556,1580863 7796909,3026468,15489334,14992377,12508121,12477932,12409302,9730610,2169259,1645713 1298556 97 NM_001107,NM_203488,AC007055,AL049780,CH471061,AK312101,AW390293,BC035568,BE467248,BG614847,BX104912,X84194 NP_001098,NP_982355,AAD31937,EAW81216,BAG35037,AAH35568,CAA58987,P07311 Hs.18573 ACYPE acylphosphatase, erythrocyte isozyme|acylphosphatase, organ-common type isozyme|acylphosphatase-1|acylphosphate phosphohydrolase 1 protein-coding 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] 1580863 19851296,20198315,20379614,8268218,18809411,18649358,16084386,15670608,15489334,12477932,12409302,11799398,10542090,9395090,9070879,7796909,7487897,6100723,3026468,20877624 98 NM_138448,AC008280,AC073879,AC092622,AC108929,CH471053,AK307096,BC012290,BF739886,CA308062,X84195 NP_612457,AAY14721,AAX88874,EAX00152,EAX00153,EAX00154,EAX00155,EAX00156,EAX00157,AAH12290,CAA58988,P14621,Q4ZFV7,Q53TK7 Hs.516173,Hs.642983 ACYM|ACYP OTTHUMP00000200601|OTTHUMP00000200602|acylphosphatase, muscle type isozyme|acylphosphatase-2|acylphosphate phosphohydrolase 2 protein-coding 1344501 AD2 Alzheimer disease 2 (APOE*E4-associated, late onset) 1345672 AD5 Alzheimer disease 5 9333264,10712207 8081 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. 9399956,15652152,15346770,11897561 27308 O60448 AF010144 AAC08737,O60448 AD7CNTP protein-coding 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] 1304201,1580863,1300048,2313538,2313539,2313540,1300251,1300353,1624289,1624292,1624286,1624305,1624309,1624290 20347569,20651391,20581655,3182793,8452534,9361033,11999881,16670267,7594462,14684150,7599635,8894685,11772392,7759315,19470168,19237091,19172437,19086053,19019667,18794722,18768081,18680557,18673094,18597230,18562134,18560234,18357489,18302529,18222177,18218852,17696452,17536804,17397971,17340203,17287605,17243920,17181544,16970880,16886895,16754522,16724628,16410722,16224193,16221767,16133068,15983379,15761857,15632314,15489334,15281007,15257174,15063762,15016824,14726805,12935677,1856451,1807098,1696926,1284479,11278278,10899322,9330696,9103436,20548128,19521708,12809673,12774669,12712614,12477932,12381379,12150791,12113294,12104097,11901152,11780052,11534018,11354825,11125033,11121182,10506947,9674425,9414266,9373149,9299436,9247966,9225964,9154805,8589684,8299233,8242080,8227344,8125298,8031011,7570001,7371221,6688808,6546794,6526272,6208479,6198240,6090454,3839802,3839456,3838797,3560174,3348976,3028473,3010705,2783588,2770711,18029348,19026999,19628957,19633200,19668260,19703146,19789510,19845893,19901882,20147632,20174870,20180986,20306731,20392501,20414589,20480728,20522203,8101391,19913121,20453107,20554694,20590444,20615890,20628086,20872567,20805743,20943049 1304201,2313538,2313539,2313540,1300251,1300353,1624289,1624292,1624286,1624305,1624309,1624290 100 HH769637,HH769781,NG_007385,NM_000022,AL139352,CH471077,M13792,X02189,X02190,Z97053,AK123988,AK223397,AL832305,BC007678,BC040226,BI601734,CR590997,CR597186,CR597421,CR606425,CR607668,CR609012,CR609053,CR610127,CR611818,CR612145,CR615818,CR618876,CR619472,CR621286,CR622485,CR622953,CR623349,X02994 CBX85542,CBX85614,NP_000013,CAH73885,EAW75904,EAW75905,EAW75906,EAW75907,AAA78791,CAA26130,CAB09782,BAD97117,AAH07678,AAH40226,CAA26734,P00813,ABM83607,ABM86850 Hs.654536 adenosine aminohydrolase|adenosine deaminase protein-coding 1606972 ADAD1 adenosine deaminase domain containing 1 (testis-specific) 20549515,20553587,19302705,18311140,17558408,16344560,14702039,12477932,9541871,7543294,17554300,19523143 132612 NM_139243,NM_001159285,NM_001159295,AC022489,CH471056,AK057303,AK093297,BC040229,DB027040,DB040584,DB058857,DB059180,HC007332 NP_640336,NP_001152757,NP_001152767,EAX05228,EAX05229,EAX05230,EAX05231,EAX05232,EAX05233,EAX05234,BAB71416,BAC04125,AAH40229,Q96M93,ABM84128,ABM84129,ABM87529,ABM87530,CBH19471 Hs.518957 FLJ32741|Tenr OTTHUMP00000196373|OTTHUMP00000196374|adenosine deaminase domain-containing protein 1|testis nuclear RNA-binding protein protein-coding 1602291 ADAD2 adenosine deaminase domain containing 2 16344560,14702039,12477932,8889548 161931 NM_139174,NM_001145400,AC009123,CH471114,AF447586,AK093046,AK093523,AK131102,AK315171,BC033491,BU731201,DB036324 NP_631913,NP_001138872,EAW95491,EAW95492,EAW95493,EAW95494,AAM22869,BAC04032,BAC85152,BAG37613,AAH33491,Q6ZNJ3,Q8NCV1 Hs.8977 FLJ00337|TENRL adenosine deaminase domain-containing protein 2|testis nuclear RNA-binding protein-like protein-coding 1605272 ADAL adenosine deaminase-like 12477932 161823 NM_001012969,NM_001159280,AC009852,AC018924,CH471125,AK126583,AK298870,BC075857,BQ015642,BX647599,CA436653 NP_001012987,NP_001152752,EAW92598,EAW92599,BAG54348,BAG60990,AAH75857,Q6DHV7 Hs.533913 DKFZp313B2137|FLJ44620 adenosine deaminase-like protein protein-coding 1345474 ADAM1 ADAM metallopeptidase domain 1 (pseudogene) 9032439,16344560,10524237,11784061 8759 AC003029,Y09232,NR_036636,CA427398,DA031170 Hs.661708 ADAM1P|FTNAP|Ftna|PH-30a ADAM metallopeptidase domain 1 (fertilin alpha) pseudogene|a disintegrin and metalloproteinase domain 1 (fertilin alpha) pseudogene pseudo 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] 2302204,1300252,1580863,1559151,2317976 9016778,8694785,18676862,12714508,11831872,18373975,12475894,19541935,19435795,19394555,19357285,19344981,19278423,19260824,19144697,19091752,18981120,18979631,18971959,18952609,18642355,18603587,18514661,18480749,18420943,18381078,18355445,18215140,18200054,18074395,17965014,17895248,17727679,17699774,17557115,17290285,17187903,16942750,16806063,16751190,16735514,16648485,16627989,16390331,16309826,16263699,16263114,16239146,16227584,15958533,15905513,15507448,15300588,15280425,15280379,15182369,14707550,14702039,14636066,14627705,12960155,12832423,12815056,12794186,12782344,12730960,12665519,12629514,12590602,12568494,12535668,12477932,12438920,12176995,12080182,11839628,11786905,11511685,11477090,10958785,10737800,10423016,9618175,9441766,9344679,9305925,7822279,7593158,11741929,20711474,20443867,20070888,10527948,19564338,19587294,19603142,19608551,19632330,19665015,19667218,19672558,19704010,19783906,19823572,19826051,19865098,20059578,20136654,20348102,20371803,20381196,20624979,20676056,20814017,19913121,20628086,20677014 2302204,1300252,1559151,2317976 102 NM_001110,AC018904,AC091046,CH471082,AF009615,AK023460,AK300472,BC055087,BC104659,BC126253,BC143935,BE934813,BX372217,CR621666,Z48579 NP_001101,EAW77539,EAW77540,EAW77541,AAC51766,BAG62190,AAI26254,CAA88463,A0AV88,O14672 Hs.578508 AD10|CD156c|HsT18717|MADM|kuz ADAM 10|CDw156|OTTHUMP00000165066|a disintegrin and metalloprotease domain 10|a disintegrin and metalloprotease domain 10|a disintegrin and metalloproteinase domain 10|disintegrin and metalloproteinase domain-containing protein 10|kuzbanian protein homolog|mammalian disintegrin-metalloprotease protein-coding 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] 1580863 9693107,8252040,15203218,15146197,14759258,12477932,11545539,11076863,7956356,7593158,16169070 4185 AAB29191 AC005180,CH471178,D31872,AB009675,AK296512,BC144550,CD630831,CD630842,CN418442,D17390,NM_002390 EAW51578,EAW51579,EAW51580,BAA06670,BAA06671,BAA32352,BAG59144,BAA04213,AAB29191,O75078,AAI11917,NP_002381 Hs.6088 MDC ADAM 11|a disintegrin and metalloproteinase domain 11|disintegrin and metalloproteinase domain-containing protein 11 protein-coding 1317265 ADAM12 ADAM metallopeptidase domain 12 This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene has two alternatively spliced transcripts: a shorter secreted form and a longer membrane-bound form. The shorter form is found to stimulate myogenesis. [provided by RefSeq] 1580863,1625347,1559174,2317976 7566181,19278423,19268722,19040574,19003798,18978109,18801731,18621736,18604515,18519826,18395873,18382998,18365756,18342566,18311789,18264967,18264948,18241035,18081311,17987603,17846126,17701664,17620406,17465398,17440933,16869727,16495931,16455653,16453284,16344560,16213489,9642263,9417060,15280379,20457602,16139919,15930294,15574885,15509542,15381692,15364951,15358598,15242759,14691998,12975309,12952982,12915587,12717386,12615925,12477932,12000744,12000741,11313349,11127814,11095942,10944520,10849447,10831617,10788519,20509156,20509157,20090292,20187159,11786904,15574124,16385451,19213876,19544290,19544357,19609547,19736612,19769962,19837132,20218926,20379614,20305677 1625347,1559174,2317976 8038 HC006764,NM_003474,NM_021641,AC022015,AC026226,AC063963,AL589787,AL691463,CH471066,AF023476,AF023477,AK127856,AK291629,AY358878,BC060804,CB960379,CR596848,CR600916,CR611528,CR616307,DA027173,DA863951,DR004947 CBH19188,NP_003465,NP_067673,CAI40681,CAI40682,CAI40683,EAW49205,EAW49206,EAW49207,EAW49208,EAW49209,AAC08702,AAC08703,BAF84318,AAQ89237,AAH60804,O43184,Q5JRP2 Hs.594537 MCMP|MCMPMltna|MLTN|MLTNA disintegrin and metalloproteinase domain-containing protein 12|meltrin-alpha protein-coding 1342889 ADAM13 a disintegrin and metalloproteinase domain 13 8753 1351482 ADAM14 a disintegrin and metalloproteinase domain 14 8752 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] 1559176,2325247 10531379,9516430,19487280,19253070,19207106,19054571,18695922,18434311,18387333,18296648,18281484,17937806,17575078,17416588,17080222,16894352,16756724,16303743,15756594,15618016,15489334,15384173,15358598,15263807,14707550,12897135,12858436,12777399,12615925,12477932,12243749,12091380,11882657,18774960,20189953,11840679,11839628,11741929,10842103,10828588,10652535,9914169,9039960,9016778,8889548,8617717,10527948,16189514,15280379,16374509,19550037,19718658,20213810,20851104 1559176,2325247 8751 NM_207197,NM_207194,NM_207196,NM_207195,NM_003815,NM_207191,AF314227,AL451085,AL691442,AB209157,AK000667,AK075498,AK295614,AK296925,AK297468,AK308172,AY518542,AY560593,AY560594,AY560595,AY560596,AY560597,AY560598,AY560599,AY560600,AY560601,AY576417,BC014566,BM971880,BT009764,CR603003,CR614548,U41767,U46005 NP_997080,NP_997077,NP_997079,NP_997078,NP_003806,NP_997074,AAM44189,AAS48590,AAS48591,AAS48592,AAS48593,AAS48594,AAS48595,AAS48596,AAS48597,AAS72298,CAI13273,CAI13274,CAI15327,CAI15328,BAD92394,BAG52157,BAH12126,BAG59477,BAG59890,AAR99331,AAS72991,AAS72992,AAS72993,AAS72994,AAS72995,AAS72996,AAS72997,AAS72998,AAS72999,AAS73000,AAH14566,AAP88766,AAC50404,AAC51112,Q13444,Q59GF2,ABW03624 Hs.312098 MDC15 ADAM 15|MDC-15|OTTHUMP00000033236|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 protein-coding 1345025 ADAM16 a disintegrin and metalloproteinase domain 16 8750 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(TACE); binds mitotic arrest deficient 2 protein; and also plays a prominent role in the activation of the Notch signaling pathway. [provided by RefSeq] 2292150,2313250,2302204,2312470,1559178,1580863,1300253,2317976 19913121,20627730,20628086,20634891,18029348,15308656,15182369,15146197,15102849,15066987,14625290,14532978,12972643,12947092,12832423,12810728,12755693,12730960,12714588,12711607,12706122,12668732,12621058,12606576,12568494,12535668,12477932,12474981,12441351,12147693,12135369,12058067,12207026,14970227,16034137,10527948,12743035,18373975,18483258,18625725,17786981,18276953,18383040,17010968,9034190,19541935,19435795,19324423,19298600,19296470,19278423,19253070,19171023,19154693,19150341,19124506,19091752,19082505,18979631,18978678,18922903,18824549,18818406,18713734,18676862,18638486,18636124,18600307,18493210,18490652,18442814,18426733,18396294,18355445,18281553,18238782,18171982,18167350,17999917,17942404,17714581,17608729,17438092,17405915,17360351,17227756,17155946,17081983,16982746,16942750,16912185,16900751,16806063,16641105,16478662,16376986,16336275,16332693,16279945,16246259,16210695,16179345,16148149,16079149,15983030,15784625,15691827,15337756,15309730,12044879,11988096,11733179,10882063,10860581,10433800,10224132,9806848,9620803,9574564,9520379,9034191,8889548,11741929,15280379,20679348,20551051,20359533,20819075,10799478,11823465,15534001,16619241,17655843,17986144,19299578,19376560,19482949,19515085,19535569,19564338,19595713,19633828,19666115,19704010,19762488,19772640,19819120,19843672,19875451,19949420,19959661,20026129,20059578,20070837,20118276,20180536,20184396,20188673,20221248,20300049,20379614,9774383,9920899 2292150,2313250,2302204,2312470,1559178,1300253,2317976 6868 AC073195,AC080162,AC092206,CH471053,AK289829,AY422721,BC062687,BC136783,BC146658,BM725368,BQ186514,BX339672,CN258241,U69611,NM_003183,U69612,U86755,U92649,GQ402545 NP_003174,AAX93142,AAY14859,AAX93091,EAX00981,EAX00982,BAF82518,AAH62687,AAI36784,AAI46659,AAB51514,AAB53014,AAB51586,AAC39721,P78536,Q53RF5,Q53RS1,Q53S40,Q6P5T8,ACV30013 Hs.404914 ADAM18|CD156B|CSVP|MGC71942|TACE ADAM 17|ADAM metallopeptidase domain 17 (tumor necrosis factor, alpha, converting enzyme)|ADAM metallopeptidase domain 18|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 protein-coding 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. [provided by RefSeq] 1580863 20379614,10395895,15489334,12975309,12477932,12200459,9665629,9373149,8125298,16344560 8749 NM_014237,AC109633,AC136365,CH471080,AJ133004,AK225744,AK313961,AY358321,BC034624,BC070279,BC121045,BC121046,DB049415,NM_001190956 NP_055052,EAW63276,EAW63277,CAB40812,BAG36677,AAQ88687,AAH34624,AAH70279,AAI21046,AAI21047,Q0VAI3,Q6IRW9,Q9Y3Q7,NP_001177885 Hs.127930 ADAM27|MGC41836|MGC88272|tMDCIII ADAM 18|a disintegrin and metalloproteinase domain 18|disintegrin and metalloproteinase domain-containing protein 18|disintegrin and metalloproteinase domain-containing protein 18; putative ADAM18 gene product|putative ADAM18 gene product|tMDC III|transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III protein-coding 735923 ADAM19 ADAM metallopeptidase domain 19 (meltrin beta) 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 also been demonstrated to be an active metalloproteinase, which may be involved in normal physiological and pathological processes such as cells migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. [provided by RefSeq] 1580863,1559267,2317976 18458692,19423540,19727588,20010835,20406964,20438785,20889312,19079262,18714391,17112471,16827870,15896713,15242783,14702039,12682046,12615925,12477932,12463424,12393862,12058067,12006600,11708814,11162584,11116142,10887142,9806848,9461614,8358434,10531379,20460109 1559267,2317976 8728 NM_033274,AC008676,AC008694,AC106801,CH471062,AF134707,AF311317,AF326918,AK091464,AK093535,AK308182,AL049415,BC024214,BC033132,Y13786 NP_150377,EAW61595,EAW61596,EAW61597,EAW61598,AAF22162,AAK07852,AAG50282,BAG52367,AAH24214,AAH33132,CAC20585,Q8TBU7,Q9H013,AAI40324 Hs.483944 FKSG34|MADDAM|MLTNB ADAM 19|ADAM metallopeptidase domain 19 (meltrin beta)|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 protein-coding 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. This member is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. [provided by RefSeq] 68863,1580863 9041139,18292840,15489334,12477932,11882657,11784061,10518536,9889149,9070941,8702389 68863 2515 NM_001464,AC136365,AP005902,CH471080,AJ133005,AK301734,BC034957,BC064547,BG719616,BI460477,U38805,U52370,X99374,HC044539 NP_001455,EAW63273,EAW63274,EAW63275,CAB40813,BAG63199,AAH34957,AAH64547,AAD04206,AAC51110,CAA67753,Q6P2G0,Q99965,ABM82541,ABM85733,CBH30599 Hs.177959 CRYN1|CRYN2|CT15|FTNB|PH-30b|PH30 ADAM 2|PH-30|PH30-beta|cancer/testis antigen 15|disintegrin and metalloproteinase domain-containing protein 2|fertilin beta|fertilin subunit beta protein-coding 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] 1580863 9469942,12477932,11807715,10524237 8748 NM_003814,AF158643,AL357153,CH471061,AA400588,AF029899,BC025378,HC006766,HC044543 NP_003805,AAD55254,EAW81037,AAC52041,AAH25378,O43506,ABW03729,CBH19189,CBH30601 Hs.177984 ADAM 20|a disintegrin and metalloproteinase domain 20|disintegrin and metalloproteinase domain-containing protein 20 protein-coding 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. This gene lacks introns and its expression is testis-specific. [provided by RefSeq] 1580863 9469942,15489334,12477932,10524237 8747 NM_003813,AF158644,AL357153,AL391223,CH471061,AF029900,BC109024,BC109025 NP_003804,AAD55255,EAW81035,AAC52042,AAI09025,AAI09026,Q9UKJ8 Hs.178748 ADAM 21|ADAM31|MGC125389 ADAM metallopeptidase domain 21, preproprotein|a disintegrin and metalloproteinase domain 21|disintegrin and metalloproteinase domain-containing protein 21 protein-coding 1346763 ADAM21P ADAM metallopeptidase domain 21 pseudogene 16520872,10524237 145241 NR_003951,AF158640,AL160191,DQ202398 ABA43715 Hs.712468 ADAM21P a disintegrin and metalloproteinase domain 21 pseudogene pseudo 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. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. Alternative splicing results in several transcript variants. [provided by RefSeq] 1580863 9693107,16868027,19054571,18593599,18440780,17884303,17681454,16990550,16385342,15882968,15876356,14759258,12853948,12589811,12477932,11050470,10524237,18762889,20156119,20220021,20379614 53616 NM_021723,NM_021722,CA429662,DR000609,NM_016351,NM_004194,NM_021721,AC004992,AC005075,AC005164,AF158642,CH236949,CH471091,AB009671,AF073291,AF155381,AF155382,AF158637,AK125432,AK291010,BC036029,BC062433,BC092465,BC125117,BC125118 NP_068369,NP_057435,NP_004185,NP_068367,AAP21878,AAS07417,AAD55253,EAW76913,EAW76914,EAW76915,EAW76916,EAW76917,EAW76918,EAW76919,EAW76920,EAW76921,EAW76922,EAW76923,EAW76924,EAW76925,EAW76926,EAW76927,NP_068368,EAW76928,BAA32349,BAA32350,AAF22476,AAF73288,AAF73289,AAD55251,BAG54196,BAF83699,AAH36029,AAH62433,AAH92465,AAI25119,Q08AL8,Q6P667,Q75MS7,Q86UM2,Q8IYE7,Q9P0K1,Q9UKK0,EAW76929 Hs.592282 ADAM 22|MDC2|MGC149832 ADAM 22|OTTHUMP00000174588|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 protein-coding 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. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. [provided by RefSeq] 1580863 12477932,9693107,19549921,19477226,19089928,16103878,16094384,15862898,15146197,15146195,14697522,10749942,10524237,10506182,19824886,20379614,20851106 8745 NM_003812,AC009225,AC010731,AC079136,AF158641,CH471063,CS072966,AB009672,AJ005580,AK129906,AK296844,BC132763,BC132765,CN399765,H11006 NP_003803,AAX93195,AAY14948,AAX93210,AAD55252,EAW70386,EAW70387,CAI93690,BAA32351,CAC20565,BAG59410,AAI32764,AAI32766,O75077,Q53RX4,Q53TC0,Q53TK5,Q9UKK1 Hs.591643 MDC3 ADAM 23|MDC-3|a disintegrin and metalloproteinase domain 23|disintegrin and metalloproteinase domain-containing protein 23|metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3 protein-coding 1346074 ADAM24 a disintegrin and metalloproteinase domain 24 10395895 646479 AC124074,AP006248,NG_022410 ADAM24 pseudo 1350743 ADAM25 a disintegrin and metalloproteinase domain 25 11088 1354292 ADAM26 a disintegrin and metalloproteinase domain 26 11087 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] 1580863 20450360,20544843,21077327,20971063,10587367,19054571,18690470,17597069,17047053,16052521,15013428,12777399,12667064,11724793,10794709,10506182,12477932,19527685,19896699,20112342 10863 NM_014265,NM_021777,AC044891,AC120193,CH471080,AF137334,AF137335,AI475787,AI624552,AJ242015,AK293382,AK303437,BC136478,BC144140 NP_055080,NP_068547,EAW63608,EAW63609,AAD25099,AAD25100,CAB42085,BAG56894,BAG64485,AAI36479,Q9UKQ2 Hs.174030 ADAM 28|ADAM23|MDC-L|MDC-Lm|MDC-Ls|MDCL|eMDC II|eMDCII a disintegrin and metalloproteinase domain 28|disintegrin and metalloproteinase domain-containing protein 28|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 protein-coding 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] 1580863 10512762,16344560,15802535,12477932,10644455,19340428 11086 NM_014269,NM_001130703,NM_001130704,NM_001130705,AC105914,CH471056,AF134708,AF171929,AF171930,AF171931,AK292410,BC036070,BU176889,DB039551,DB051105,DB073142,DB078034,DB080702,HC006768,HC044545 NP_055084,NP_001124175,NP_001124176,NP_001124177,AAY41055,EAX04727,EAX04728,AAF22163,AAF03777,AAF03778,AAF03779,BAF85099,Q4W5F3,Q9UKF5,AAI66695,CBH19190,CBH30602 Hs.126838 CT73|svph1 ADAM 29|OTTHUMP00000218946|OTTHUMP00000218947|OTTHUMP00000218948|OTTHUMP00000218949|a disintegrin and metalloproteinase domain 29|cancer/testis antigen 73|disintegrin and metalloproteinase domain-containing protein 29 protein-coding 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] 1580863 10512762,18591388,18372903,16710414,12975309,12477932,19862325 11085 HC006770,HC044499,NM_021794,AL359752,CH471122,AF171932,AF171933,AK292483,AY358734,BC028372 CBH19191,CBH30579,NP_068566,CAI18978,EAW56717,AAF03780,AAF03781,BAF85172,AAQ89096,AAH28372,Q9UKF2,ABM81876,ABM85038 Hs.283011 svph4 ADAM 30|a disintegrin and metalloproteinase domain 30|disintegrin and metalloproteinase domain-containing protein 30 protein-coding 1345583 ADAM32 ADAM metallopeptidase domain 32 1580863 12568724,12477932,17081983,15489334,15340161,12975309,20379614 203102 BC030014,NM_145004,AC105091,AC105185,CH471080,AB209690,AK122608,AK129810,AK131038,AK300148,AK313864,AY172952,AY358739,BC026085,BC026169,BC028702,BC030698,BC034975,BI559590 NP_659441,EAW63282,BAD92927,BAC85489,BAC85238,BAG61934,BAG36592,AAO45696,AAQ89099,AAH26085,AAH26169,AAH28702,AAH30014,AAH30698,AAH34975,Q2VYF6,Q59EX1,Q6ZP86,Q6ZWL1,Q8TC27,ABM81836,ABM84987 Hs.521545 FLJ26299|FLJ29004 ADAM 32|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 1313212 ADAM33 ADAM metallopeptidase domain 33 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 1331525,1580863,4145379,4145380,4145383,4145361,4142862,4145382,4145358,4145359,4145360,4145357,4145378 11814695,19326508,19317339,19284602,19267929,19265133,19264973,19258923,19247692,19237393,19236319,19146844,18923449,18778489,18752037,18560587,18425216,18423563,18410963,17961406,17878941,17703412,17702965,17640346,17545039,17339047,17081983,17061022,16893396,16839403,16799089,16784537,16773130,16713569,16650044,16519819,16387804,16024651,15986064,15879414,15805180,15790980,15766253,15709049,15387895,15347848,15298558,15196271,15144468,14742294,14720258,14702039,14676211,14659745,14564349,12975309,12768445,12535637,12477932,12110844,11780052,19635592,19665773,19940503,19951440,19996348,20003279,20227692,20237496,20395963,20491578,20503287,20524005,20701904,20716621,19913121,20628086,20537279,20156753 1331525,4145379,4145380,4145383,4145361,4142862,4145382,4145358,4145359,4145360,4145357,4145378 80332 AK094070,AK095953,AK123015,NM_025220,AF466288,AL109804,AL356755,CH471133,DQ995342,AB055891,AF466287,AF466289,AK092627,NM_153202,AK126487,AK126498,AK226148,AK300429,AK304037,AL117415,AY223850,AY223852,AY223853,AY223854,AY223855,AY358314,BC062663,BC125112,BC125113 BAC04660,NP_694882,NP_079496,AAM80483,CAI18840,CAM26955,CAI23465,CAM28348,EAX10519,EAX10520,EAX10521,EAX10522,EAX10523,EAX10524,EAX10525,EAX10526,ABI97387,BAB83092,AAM80482,AAM80484,BAG62155,BAG64948,AAP15439,AAP15441,AAP15442,AAP15443,AAP15444,AAQ88680,AAH62663,AAI25113,AAI25114,Q08AM2,Q08AM3,Q6P5U4,Q7Z7E0,Q7Z7E1,Q7Z7E2,Q7Z7E3,Q7Z7E5,Q8N6B9,Q8N8Z9,Q9BZ11 Hs.173716 C20orf153|DJ964F7.1|DKFZp434K0521|FLJ35308|FLJ36751|MGC149823|MGC71889 ADAM 33|a disintegrin and metalloprotease 33|a disintegrin and metalloproteinase domain 33|disintegrin and metalloproteinase domain-containing protein 33|disintegrin and reprolysin metalloproteinase family protein protein-coding 1350597 ADAM3A ADAM metallopeptidase domain 3A (cyritestin 1) 16344560,12477932,11439107,9693117,9502432,20210993 1587 NR_001569,NR_024106,NR_024107,AC106011,AC123767,AJ005372,AK302269,AK308250,BC025386,BC042979,BG717260,DB335796,DB447356,X89654,X89655,X89656,X89657 BAG63615 Hs.98848 ADAM3|CYRN1|tMDCI a disintegrin and metalloproteinase domain 3a (cyritestin 1) pseudo 1352596 ADAM3B ADAM metallopeptidase domain 3B (non-functional) 9693117,11439107,9502432,9284909 1596 NG_001526,AC007861,Y10615 CAA71622,O00504 CYRN2 ADAM metallopeptidase domain 3B (cyritestin 2)|a disintegrin and metalloproteinase domain 3b (cyritestin 2) pseudo 1344462 ADAM4 a disintegrin and metalloproteinase domain 4 8758 1353792 ADAM5P ADAM metallopeptidase domain 5 pseudogene 632496 20210993,12477932,10417343,8786143 632496 255926 NR_001448,AC105185,AC106011,AJ132820,AJ132821,AJ132822,AJ132823,AJ132824,AJ132825,AJ132826,AJ132827,BC026083,BC047448,BC057230,BC067864 Q6NVV9 Hs.369765 ADAM5|TMDCII tmdc ii pseudo 1351124 ADAM6 ADAM metallopeptidase domain 6 14702039,9841928,16162398 8755 NR_002224,NG_001019,AB019441,AI024595,AK093400 BAG52709 Hs.662288 C14orf96|tMDCIV a disintegrin and metalloproteinase domain 6 pseudo 736113 ADAM7 ADAM metallopeptidase domain 7 The ADAM family is composed of zinc-binding proteins that can function as adhesion proteins and/or endopeptidases. They are involved in a number of biologic processes, including fertilization, neurogenesis, muscle development, and immune response.[supplied by OMIM] 1580863 16344560,12514095,12477932,11514362 8756 NM_003817,AC024958,AC120193,CH471080,AF090327,AF215824,AK292492,BC043207,BC058037,DB077360 NP_003808,EAW63606,AAC36742,AAG43987,BAF85181,AAH43207,AAH58037,Q6PEJ6,Q86XK9,Q9H2U9,AAI41423,AAI48736 Hs.116147 EAPI|GP-83 ADAM 7|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 protein-coding 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] 1298587,1580863,2325243,2325244 18710625,9126482,19601829,19469654,19397475,19284887,18691140,18682798,18566576,17979891,17548643,17339047,16344560,15623614,12477932,12135759,10354553,19575316,21077325,20453887,15574124,16385451,18811590,19714641,19766586,20628624 1298587,2325243,2325244 101 AK304324,NM_001109,NM_001164489,NM_001164490,AK310662,AK312834,BC064500,BC115404,BI908229,BM144968,BM146234,BQ007791,CR997306,D26579,DA936506,DB142906,DC401057,DC408787,AL592071,CH471211,CS174020,AK301147 NP_001157962,NP_001100,NP_001157961,BAH14159,BAG35688,AAI15405,BAA05626,P78325,Q14C66,EAW61325,EAW61326,CAJ34536,BAG62738 Hs.720760 CD156|MGC134985|MS2 ADAM 8|a disintegrin and metalloproteinase domain 8|cell surface antigen MS2|disintegrin and metalloproteinase domain-containing protein 8|human leukocyte differentiation antigen protein-coding 1321127 ADAM9 ADAM metallopeptidase domain 9 (meltrin gamma) 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. Two alternative splice variants have been identified, encoding distinct isoforms. [provided by RefSeq] 1580863,2317976,2325246,2325247,2325249,1559151 16336960,10531379,8647900,15361064,11162558,17704059,9920899,11831872,17018608,19473694,19409519,19394555,19253070,19237226,18061337,17342749,17081983,16806063,16311053,15856464,15280379,15205330,14997207,12767059,12535668,12484779,12477932,12135759,12054541,11955914,11882657,10527948,9857183,9016778,8809033,7584028,7584026,19505527,19543729,19564338,20422344,20736367,20388695 2317976,2325246,2325247,2325249,1559151 8754 NM_003816,NR_027638,NR_027639,NR_027878,AC105091,AC108863,CH471080,AF495383,AK293257,AV708278,BC027996,BC126406,BC143923,BC143924,CR591969,CR601711,D14665,U41766,NG_016335 NP_003807,EAW63283,EAW63284,EAW63285,AAM49575,BAG56789,AAI26407,AAI43924,BAA03499,AAC50403,A0AVL1,Q13443 Hs.591852 CORD9|KIAA0021|MCMP|MDC9|Mltng ADAM 9|ADAM metallopeptidase domain 9 (meltrin gamma)|OTTHUMP00000216481|OTTHUMP00000216484|OTTHUMP00000216485|cellular disintegrin-related protein|disintegrin and metalloproteinase domain-containing protein 9|metalloprotease/disintegrin/cysteine-rich protein 9|myeloma cell metalloproteinase protein-coding 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] 1580863 9271581,19218196,18449420,16335952,15489334,14632642,12477932,12037602,11673514 27299 NM_001145271,NM_014479,NM_001145272,AC120193,CH471080,AK300959,AK301007,AK311528,AK316320,AK316322,BC069582,BC074877,BC074878,DC387711,Y13323 NP_001138743,NP_055294,NP_001138744,EAW63607,BAH13381,BAH13391,BAH14691,BAH14693,AAH69582,AAH74877,AAH74878,CAA73764,O15204 Hs.521459 FLJ79219|M12.219 ADAM DEC1|ADAM-like protein decysin-1|a disintegrin and metalloproteinase domain-like protein decysin-1|decysin|disintegrin protease protein-coding 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] 1580863 18775505,19615732,19915008,20103648,20484033,8995297,10438512,19608765,19404339,19349275,19027488,19023099,19010931,19007777,18192475,18174457,18076023,17975119,17897672,17560840,17167179,16675485,16641089,16495931,16328961,16314835,16061471,15967414,15878613,15661359,15599946,15184385,14996435,14760803,14702039,12907688,12716911,12477932,12054629,12054626,11831030,11278559,10930576,10830953,10811842,10785405,10718198,10373500,10094461,9593739,21037509,20546609 9510 NM_006988,AP001598,AP001599,AP001697,CH471079,AB037767,AF060152,AF170084,AF207664,AK023795,AK129873,AK314475,AL162080,AW163724,BC036515,BX647388,CR599440,CR600774,DQ108407 NP_008919,BAA95502,EAX09951,EAX09952,BAA92584,AAD48080,AAF15317,AAF23772,BAC85245,BAG37080,CAB82413,AAH36515,CAI46043,AAZ73034,Q5HYL0,Q6ZP79,Q8NE26,Q9UHI8,ABM87764,ABW03905 Hs.643357 C3-C5|KIAA1346|METH1 A disintegrin and metalloproteinase with thrombospondin motifs 1|ADAM-TS 1|ADAM-TS1|ADAMTS-1|METH-1|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 protein-coding 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] 1580863 18567016,18391951,15368195,15358598,15355968,15203218,15146197,15094112,14598350,12477932,11941487,11167130,19696795,19836009,20881960 81794 NM_030957,NG_011840,AC092315,AC130469,CH471139,AB209515,AF163762,AK131414,BC029308,BF588726,BI822988,BM928283,BX461830,CD632934,CD632956,CD632974,CN431169 NP_112219,EAW68907,EAW68908,BAD92752,AAG35563,BAD18561,Q59FE5,Q6ZN14,Q9H324 Hs.657508 ADAM-TS10|WMS A disintegrin and metalloproteinase with thrombospondin motifs 10|ADAM-TS 10|ADAMTS-10|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10|zinc metalloendopeptidase protein-coding 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] 1580863 19098927,17895370,17081983,16611630,15489334,12975309,12477932,11279086,11167130,10737800,19151918,19638407,20379614,20400778 81792 NM_030955,AC008880,AC034232,AC109491,AC139777,CH471118,AJ250725,AW938686,AY358745,BC058841,BC131733,BC139900 NP_112217,EAX10808,EAX10809,CAC20419,AAQ89105,AAH58841,AAI31734,AAI39901,P58397 Hs.12680 PRO4389 A disintegrin and metalloproteinase with thrombospondin motifs 12|ADAM-TS 12|ADAM-TS12|ADAMTS-12|OTTHUMP00000221211|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 protein-coding 1323132 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 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 enzyme encoded by this gene is the von Willebrand Factor (vWF)-cleaving protease, which is responsible for cleaving at the site of Tyr842-Met843 of the vWF molecule. A deficiency of this enzyme is associated with thrombotic thrombocytopenic purpura. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq] 1598737,1580863 20647566,20734064,11557746,12775718,11535495,19506365,19427680,19422343,19389207,19270304,19260037,19253359,19234142,19190814,19190805,19190804,19116307,19069166,19054323,19047683,19041237,18988930,18983500,18981290,18940312,18835837,18833927,18801485,18756543,18725999,18665921,18609162,18581589,18521503,18502798,18492952,18492805,18449422,18433458,18332284,18327408,18263586,18240172,18223285,18194418,18175284,18166799,18031293,17988227,17928530,17922807,17901248,17849048,17768109,17764538,17725738,17395589,17296575,17294528,17229645,17121983,17087728,17053057,17030346,17003922,16990571,16953270,16899464,16894459,16807643,16794526,16755777,16634765,16597588,16468327,16453338,16449289,16391894,16344560,16335952,16322474,16286459,16221672,16203734,16189276,16160007,16141351,16113782,16102037,15975930,15890682,15886321,15865866,15855280,15842379,15824096,15809291,15774620,15774619,15711742,15710227,15692254,15583740,15388580,15327386,15249683,15182579,15175818,15164053,15126318,15009467,15009458,14976043,14962303,14727263,14727259,14727257,14727256,14727255,14727254,14644076,14563640,14525793,14512317,14512308,12975358,12975309,12923577,12871391,12871390,12869506,12855569,12791682,12753286,12615692,12614216,12477932,12395148,12393505,12393399,12393397,12223999,12195022,12181489,12172456,12130486,12091372,12091044,12084165,12038781,11920264,11867212,11843286,11586351,11586344,11574066,11535494,11230166,11167130,8639782,8639781,19422532,20605782,20307901,19809308,20390223,19492149,20664912,20682599,20141578,18996572,19027144,19162307,19439298,19541819,19574655,19584892,19587373,19654870,19682236,19718479,19729451,19765208,19765212,19812385,19822897,19847791,19880749,19897584,19944670,19996632,20032502,20054668,20058209,20062916,20075158,20201926,21077328 1598737 11093 NG_011934,AL158826,AL593848,AY532929,AY532930,AY532931,AY532932,CH471090,DQ422807,AB069698,AF414401,AJ011374,AJ305314,AJ420810,AJ420811,AK124983,AK292439,AL136809,AW197188,AY055376,AY358118,BC034404,BC039251,BC103828,BC103829,BC103830,DB069518,NR_024514,NM_139025,NM_139027,NM_139026 NP_620595,CAI12850,CAI12851,CAI12852,AAS54901,AAS54902,AAS54903,AAS54904,EAW88083,EAW88084,EAW88085,EAW88086,EAW88087,EAW88088,ABD72606,BAB69487,AAL11095,CAB66157,CAC83682,CAD12729,CAD12730,BAG54119,BAF85128,CAB66743,AAL17652,AAQ88485,Q6QNA4,Q6QNA5,Q6QNA6,Q6QNA7,Q76LX8,Q9UGQ1,AAI72369,NP_620594,NP_620596 Hs.131433 C9orf8|DKFZp434C2322|FLJ42993|MGC118899|MGC118900|TTP|VWFCP|vWF-CP A disintegrin and metalloproteinase with thrombospondin motifs 13|ADAM-TS 13|ADAM-TS13|ADAMTS-13|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13|vWF-cleaving protease|von Willebrand factor-cleaving protease protein-coding 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] 1580863 15913795,11867212,11779638,11741898,16385451,18790654,19851299,20378664,20379614 140766 NM_139155,NM_080722,AL355344,AL358817,CH471083,AF358666,AF366351,AJ345098,AK128469 NP_631894,NP_542453,CAI41277,CAI41278,CAI13857,CAI13858,EAW54409,EAW54410,AAL40229,AAL79814,CAC87943,Q5T4G1,Q8WXS8,AAI40264 Hs.352156 FLJ32820 A disintegrin and metalloproteinase with thrombospondin motifs 14|ADAM-TS 14|ADAM-TS14|ADAMTS-14|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14|metalloprotease-disintegrin protease protein-coding 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] 1580863 19458070,16152618,15599946,15489334,12477932,11867212,20590445 170689 NM_139055,AP002986,AP003459,CH471065,AJ315733,BC109114,AK130067 NP_620686,EAW67786,EAW67787,CAC86014,AAI09115,Q8TE58 Hs.534221 MGC126403 A disintegrin and metalloproteinase with thrombospondin motifs 15|ADAM-TS 15|ADAM-TS15|ADAMTS-15|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 protein-coding 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] 1580863 19423552,19635554,20379614,17519324,16507336,14702039,11867212 170690 FJ515844,NM_139056,AC010269,AC022424,AC091978,CH471102,AB095949,AJ315734,AK122980,AK127746,DQ266047 ACS13738,NP_620687,EAX08117,EAX08118,EAX08119,EAX08120,BAC23125,CAC86015,BAG53830,BAG54564,ABB70405,Q2XQZ0,Q8TE57,AAI40298 Hs.661915 ADAMTS16s|FLJ16731 A disintegrin and metalloproteinase with thrombospondin motifs 16|ADAM-TS 16|ADAM-TS16|ADAMTS-16|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16 protein-coding 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] 1580863 20546612,18391951,16344560,14702039,11867212,21037509,19266077,19836009,20200978 170691 AC015723,AC022710,AC084855,AC113187,CH471101,DQ217943,AA884550,AJ315735,AK057331,AK057529,AK131344,DB279404,NM_139057,NG_016287 NP_620688,EAX02261,EAX02262,EAX02263,EAX02264,ABB70740,CAC86016,BAD18500,Q8TE56,AAI52746 Hs.513200 FLJ16363|FLJ32769 A disintegrin and metalloproteinase with thrombospondin motifs 17|ADAM-TS 17|ADAM-TS17|ADAMTS-17|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17 protein-coding 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] 1580863 19249006,18398821,16507336,15489334,14702039,12477932,11867212,8889548,17546048,19844255,20164292,20379614,19806480 170692 NM_199355,AC009139,AC010548,AC025284,CH471114,AF086229,AI792764,AJ311903,AK122677,AK131403,AK293831,AY172951,BC063283,BM684970 NP_955387,EAW95598,EAW95599,EAW95600,EAW95601,EAW95602,CAC83612,BAD18550,BAG57234,AAO45695,AAH63283,Q2VYF7,Q6ZN25,Q8TE60,BAC85503 Hs.188746 ADAMTS21 A disintegrin and metalloproteinase with thrombospondin motifs 18|ADAM-TS 18|ADAM-TS18|ADAMTS-18|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 protein-coding 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. 1580863 11867212,19508998 171019 NM_133638,AC008425,AC008528,AC008591,AC106781,AC129713,CH471062,AI366752,AJ311904,AK122622,AK128729,AW473680,CR597547 NP_598377,EAW62381,EAW62382,EAW62383,EAW62384,EAW62385,CAC84565,BAG53626,Q8TE59,AAI56493 Hs.23751 FLJ16042 A disintegrin and metalloproteinase with thrombospondin motifs 19|ADAM-TS 19|ADAM-TS19|ADAMTS-19|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19 protein-coding 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 two transcript variants. The short transcript encodes a protein which has no significant procollagen N-peptidase activity. [provided by RefSeq] 1598739,1580863 15146197,18937294,10417273,15373769,14730609,12477932,11788898,11741898,11167130,11076863,10464288,10094461,7735500,16046392,16344560,20574651 1598739 9509 CN305044,NG_023212,NM_014244,NM_021599,AC008470,AC008544,AC010216,AC016557,AC034202,AC109479,CH471165,AI417257,AJ003125,AK308213,BX479109,CO247372,BC098581,BU629258,BX537606,CA445758,CR598488,DA928965 NP_055059,NP_067610,EAW53815,EAW53816,CAA05880,O95450,AAI11460 Hs.23871 ADAM-TS 2|ADAM-TS2|ADAMTS-2|ADAMTS-3|DKFZp686F12218|NPI|PC I-NP|PCI-NP|PCINP|PCPNI|PNPI|hPCPNI|pNPI A disintegrin and metalloproteinase with thrombospondin motifs 2|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 protein-coding 1317084 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 14702039,12562771,20221248,12514189 80070 NM_025003,AC090525,AC107018,AC120104,CH471111,AF488804,AJ515153,AJ515154,AK023228 NP_079279,EAW57861,EAW57862,EAW57863,EAW57864,AAO15766,CAD56159,CAD56160,BAB14479,P59510,Q9H8X0 Hs.287554 ADAM-TS20|ADAMTS-20|GON-1 A disintegrin and metalloproteinase with thrombospondin motifs 20|ADAM-TS 20|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20|a disintegrin-like and metalloprotease with thrombospondin type 1 motifs 20 protein-coding 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] 1580863 11812023,11408482,15708897,12477932,11831030,11741898,11167130,10464288,9205841,10094461,20881960 9508 AC093790,AC095056,AC104814,CH471057,AB002364,AF247668,BC016451,BC019707,BC130287,BC132735,NM_014243 NP_055058,EAX05651,EAX05652,BAA20821,AAK28400,AAH16451,AAI30288,AAI32736,O15072,Q96AY5 Hs.590919 ADAMTS-4|KIAA0366 A disintegrin and metalloproteinase with thrombospondin motifs 3|ADAM-TS 3|ADAM-TS3|ADAMTS-3|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 protein-coding 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] 1580863 16188468,18718938,18941754,19643179,19944557,20664926,10751421,14744861,10356395,19342688,19054571,18671934,18660489,18387286,18221525,18156631,18050214,18042673,18039650,17978660,17606262,17470431,17430884,17311924,17295438,17265492,17208315,17095512,17009305,16771712,16741450,16723216,16710414,16677612,16344560,16099106,16003758,15489334,15161923,14715656,14701864,14662755,14561220,12975309,12646579,12477932,12202483,11956193,11854269,11831030,11801682,11796708,11278559,11254106,11167130,10986281,10827174,10801887,10464288,10438522,10094461,9734811 9507 NM_005099,AL590714,AY044847,CH471121,AB014588,AF148213,AK291573,AL603427,AY358886,BC030812,BC063293,DA098917,DQ364570 NP_005090,CAH72146,CAH72147,AAL02262,EAW52627,BAA31663,AAD41494,BAF84262,AAQ89245,ABC88384,O75173,Q2HYD0,AAH63293 Hs.211604 ADAMTS-2|ADAMTS-4|ADMP-1|KIAA0688 A disintegrin and metalloproteinase with thrombospondin motifs 4|ADAM-TS 4|ADAM-TS4|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4|aggrecanase-1 protein-coding 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] 1580863 10438522,18029348,18830934,18671934,18478108,18240210,18156631,18042673,17991750,17978660,17430884,17265493,17265492,17211519,17067994,16507336,16133547,16003758,15489334,14715656,14702039,12477932,12392761,11956193,11854269,11831030,11801682,11231277,11167130,11032846,10830953,10464288,9688535,15599946,19643179,19684582,19834535,20237151 11096 AK095905,BC093775,BC093777,NM_007038,AP001600,AP001601,AP001697,AP001698,CH471079,AF086299,AF086358,AF141293,AF142099,AK094057 AAH93775,AAH93777,Q9UNA0,NP_008969,BAA95503,BAA95504,EAX09948,EAX09949,AAF02493,AAD49577 Hs.58324 ADAMTS11|ADMP-2|FLJ36738 A disintegrin and metalloproteinase with thrombospondin motifs 5|ADAM metallopeptidase with thrombospondin type 1 motif, 5 (aggrecanase-2)|ADAM-TS 11|ADAM-TS 5|ADAM-TS5|ADAMTS-11|ADAMTS-5|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 protein-coding 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] 1580863 18579725,16129570,12477932,11167130,10464288,8401585,7566098,20379614 11174 AC008847,AC008868,AC025176,AC025186,AC099505,AA318687,AA333577,AA907572,AB209685,AF140674,AK131039,AY692422,AY692423,AY692424,AY692425,AY692426,BC010563,BC020916,BC071654,NM_197941,BG117513,CR749356,W05436 NP_922932,BAD92922,AAD56357,BAC85480,AAW47395,AAW47396,AAW47397,AAW47398,AAW47399,CAH18209,Q5IR90,Q6ZNM4,Q9UKP5,AAI56432 Hs.482291 ADAM-TS 6|ADAM-TS6|ADAMTS-6 A disintegrin and metalloproteinase with thrombospondin motifs 6|OTTHUMP00000221883|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6 protein-coding 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] 1580863 10464288,19487464,19098927,16585064,12477932,11167130,20718794 11173 NM_014272,NG_011492,AC022748,CH471136,AB209497,AF140675,AK299844,AL110226,AL359934,AY327122,BC061631,CB991707 NP_055087,EAW99148,EAW99149,EAW99150,EAW99151,BAD92734,AAD56358,BAG61706,CAB53684,CAB95770,AAQ94616,AAH61631,Q59FG3,Q9NPM2,Q9UFZ4,Q9UKP4 Hs.16441 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 protein-coding 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] 1580863 10438512,10610729,17606262,16570050,16152618,15328519,15296936,14702039,12477932,20201926 11095 NM_007037,AP002986,CH471065,AB209717,AF060153,AF175283,AK123706,BC089435,BC113874,BM988619,BC114624 NP_008968,EAW67783,EAW67784,EAW67785,BAD92954,AAD48081,AAF25806,BAG53941,AAH89435,AAI13875,Q29RW5,Q59EU4,Q5FWF1,Q9UP79,AAI14625 Hs.271605 ADAM-TS8|FLJ41712|METH2 A disintegrin and metalloproteinase with thrombospondin motifs 8|ADAM-TS 8|ADAMTS-8|METH-2|METH-8|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8 protein-coding 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] 1580863 19324937,10936055,12514189,19502414,19020324,19020323,18714373,18694974,18591388,18567820,18449890,18372903,19247373,19139842,16799631,16537537,16507336,15599946,14702039,12477932,11167130,10718198,20551050,20712903,20734064,20816152,20879858,20889853,20927120,20935629,19052845,19602701,19670153,19720844,19741467,19794065,19833888,19862325,19875450,19933996,19963134,20075150,20093484,20161779,20203524,20379614,20490451 56999 NM_182920,AC096888,AC122178,CH471055,AB037733,AF261918,AF488803,AK124945,AK300357,AK303343,AK310571,BC026271,BC036770,BC130578,BC171764,BX482310,CD103111,CR619556 NP_891550,EAW65434,EAW65435,BAA92550,AAF89106,AAO15765,BAG62098,BAG64406,AAI30579,AAI71764,Q9P2N4 Hs.656071 FLJ42955|KIAA1312 A disintegrin and metalloproteinase with thrombospondin motifs 9|ADAM-TS 9|ADAM-TS9|ADAMTS-9|OTTHUMP00000213331|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9 protein-coding 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] 17395588,12477932,16344560,15489334,15164053,14702039,14667842,12975309,11805097,9628581,19671700,19824886,20379614,19913121,20628086 92949 NM_001040272,NM_052866,AL158150,AL353895,AL442638,AL449963,AL591423,CH471071,AF176313,AF251058,AI750970,AK092602,AK123028,AK128724,AK290667,AK291956,AY358327,BC030262,BC100788,BC100789,BC100790,BX640951,CR740880,CX758410,DA549329,DA598045 NP_001035362,NP_443098,CAM14351,CAM14352,CAO03592,CAI14851,CAI14853,CAM20931,EAW58656,AAK84170,AAK34948,BAC03925,BAF83356,BAF84645,AAQ88693,AAH30262,AAI00789,AAI00791,CAE45975,Q6MZQ3,Q8N6G6 Hs.726502 ADAMTSL-1|ADAMTSR1|C9orf94|DKFZp686L03130|FLJ35283|FLJ41032|FLJ46891|MGC118803|MGC118805|MGC40193|PUNCTIN ADAM-TS related protein 1|ADAMTS-like 1|ADAMTS-like protein 1|punctin-1 protein-coding 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] 1580863 12477932,9628581,18677313,17509843,15489334,14667842 9719 NM_001145320,NM_014694,NG_009931,BX324209,BX629352,BX649571,CH471090,AB011177,AI571260,AK127107,AK293498,BC050544 NP_001138792,NP_055509,CAI17317,CAI23592,CAM28356,CAI18773,CAM26559,EAW88095,EAW88096,EAW88097,BAA25531,BAG54437,BAG56984,AAH50544,Q86TH1 Hs.522543 FLJ45164|KIAA0605 ADAMTS-like protein 2|ADAMTSL-2 protein-coding 1313018 ADAMTSL3 ADAMTS-like 3 19266077,18391952,18391951,18391950,17597111,14702039,14667842,12508121,12477932,10574462,9628581,20546612,20589678,19343178,20189936,20397748 57188 NM_207517,AC027807,AC087738,AC116157,CH471188,AB033059,AF237652,AK092324,AK308845,AL109723,AL109724,BC128389,BC128390,BE646238,CR621245 NP_997400,EAW62418,BAA86547,AAK15041,AAI28390,AAI28391,P82987 Hs.459162 KIAA1233|MGC150716|MGC150717 ADAMTS-like protein 3|ADAMTSL-3|a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like 3|punctin-2 protein-coding 1351069 ADAMTSL4 ADAMTS-like 4 This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 16364318,18029348,19200529,16710414,16335952,16189514,15498874,15489334,14702039,12975309,12706885,12477932,10842357,10737800,8889548,20702823,20564469,19060904,20141359 54507 NM_019032,NM_025008,NG_012172,AL356356,CH471121,AF217974,AF289612,AF370411,AI637480,AK023606,AK092509,AK293037,AL122085,AL513944,AY358122,BC027478,BC071852,BC094811,BC140800,BC144581,BG005397,BM148104,BM721520,BX282114,BX370116,BX647294,CB960863,CB988088,CR592841,CR598356,CR599036 NP_061905,NP_079284,CAI15499,CAI15500,EAW53542,EAW53543,AAG17217,AAL55796,AAQ15247,BAB14619,BAF85726,CAB59258,AAQ88489,AAH27478,AAH71852,AAH94811,AAI40801,AAI44582,Q6UY14,Q71RC7,Q8WYY2,Q9H8J7,Q9UFG7,AAI67841 Hs.516243 TSRC1 ADAMTS-like protein 4|ADAMTSL-4|OTTHUMP00000032789|thrombospondin repeat containing 1|thrombospondin repeat-containing protein 1 protein-coding 1313735 ADAMTSL5 ADAMTS-like 5 17113583,15489334,14702039,12477932,19851296,20198315 339366 NM_213604,AC027307,CH471139,AK131571,AK302020,BC040620,BC119796,BC139833,DR979736 NP_998769,EAW69486,EAW69487,EAW69488,EAW69489,EAW69490,BAD18703,BAG63419,AAH40620,AAI19797,AAI39834,Q0VD77,Q6ZMM2 Hs.371674 THSD6 ADAMTS-like protein 5|ADAMTSL-5|thrombospondin type-1 domain-containing protein 6|thrombospondin, type I, domain containing 6|thrombospondin, type i, domain containing 6 protein-coding 733651 ADAP1 ArfGAP with dual PH domains 1 1580863 10333475,10448098,12018390,12893243,16805830,16341594,16287813,15778454,15679100,15489334,15106847,14702039,14690521,14625293,12761501,12565890,12499840,21057110,18298663,12477932,11869802,11278595,12062430,16169070,16176273,18029348,19423540,20406964,20438785 11033 NM_006869,AC073957,CH236965,CH471144,AB097049,AF082324,AI910700,AJ006422,AK092471,AK124979,AK290517,AK300644,AK300859,AK300999,BC033747,CR607974,CR619954,CR625461,CR975507 NP_006860,EAL23709,EAW87182,EAW87183,EAW87184,BAC77402,AAD11414,CAA07024,BAG52556,BAG54118,BAF83206,BAG62332,BAG62509,BAG62618,AAH33747,O75689 Hs.644629 CENTA1|GCS1L|p42IP4 OTTHUMP00000200049|arf-GAP with dual PH domain-containing protein 1|centaurin, alpha 1|centaurin-alpha|centaurin-alpha-1|cnt-a1|putative MAPK-activating protein PM25 protein-coding 734306 ADAP2 ArfGAP with dual PH domains 2 1580863 20546612,10843809,9373149,8125298,16169070,18541383,20098747,14690521,12018390,16138909,19291764,19266077,18391951,17632510,15489334,12477932,18482256,20379614,17207965 55803 NM_018404,AC138207,CH471147,AJ238994,AJ242782,AJ272195,AK074196,AK074204,AK222526,BC033758,DQ288859 NP_060874,EAW80287,EAW80288,EAW80289,CAB88383,CAC40651,CAB77266,BAD96246,AAH33758,ABB90599,Q2V6Q1,Q53HQ4,Q9NPF8,ADQ32352 Hs.514063 CENTA2|HSA272195|cent-b arf-GAP with dual PH domain-containing protein 2|centaurin beta|centaurin, alpha 2|centaurin-alpha 2 protein|centaurin-alpha-2|cnt-a2 protein-coding 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. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1559268,1300254 16344560,20590675,7565688,9020165,18029348,19434718,19124606,18835380,18799292,18753201,18705826,18627385,18362360,18243666,18178553,17698644,17680540,17569068,17478391,17225010,17081983,17079286,17033168,17021765,17020943,16964243,16917490,16886895,16475990,16133458,16120648,16055709,15955093,15724015,15723802,15659327,15635413,15556947,15489334,15342791,15146470,15102079,14711814,14702039,12954622,12916015,12702817,12665561,12618436,12477932,12453429,12447867,12429827,12414985,12396729,12243919,11907222,11752786,11604520,11593027,11451992,11421361,10535945,10364558,10200312,9735305,9237992,8586444,7972084,7862132,7618288,7490742,3175763,11278278,10899322,9330696,9103436,19559055,19605474,19637911,19667218,19710021,19713932,19733181,19913273,20069304,20379614,20844743,20805743,20430589,20439151,20588308,20186421,20300939,20875819,20708476 1559268,1300254 103 DA507408,EF190448,EF190452,EF190453,NM_001193495,X98563,EF190449,EF190450,U10439,U18121,X79448,X79449,X98559,DR158819,NM_001025107,NM_001111,NM_015840,NM_015841,NG_011844,AL592078,AL606500,AL691488,CH471121,U75503,AA449679,AB209891,AK097241,AK304153,BC017853,BC038227,BE886208,BU430287,BX538232,BX640741,CD108625,CR602350,CR612377,CR982397 ABM73519,NP_001180424,ABM73520,AAB06697,AAC13782,CAA55967,CAA55968,CAA67169,CAA67170,P55265,Q59EC0,ABW03910,ABW03600,NP_001020278,NP_001102,NP_056655,NP_056656,CAI16183,CAI16185,CAH71907,CAH71908,CAI17375,CAI17376,EAW53183,EAW53184,EAW53185,EAW53187,EAW53188,EAW53189,EAW53190,AAB97116,AAB97117,AAB97118,BAD93128,BAH14119,AAH38227,CAD98075,CAE45853,EAW53186 Hs.679967,Hs.12341 ADAR1|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88DSRBP|K88dsRBP|P136|p136 136 kDa double-stranded RNA binding protein|136 kDa double-stranded RNA-binding protein|adenosine deaminase acting on RNA 1-A|double-stranded RNA-specific adenosine deaminase|dsRNA adenosine deaminase|interferon-induced protein 4|interferon-inducible protein 4 protein-coding 732582 ADARB1 adenosine deaminase, RNA-specific, B1 (RED1 homolog rat) 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] 1580863,1300255 9113993,9111310,8995285,8889548,8559253,11278278,10899322,9330696,9103436,19156214,18178553,17903307,17728516,17525170,17071493,16961545,16733555,16297572,16141067,15383678,15302935,14759258,14759252,14612560,12859334,12477932,12459255,12414985,12163487,11907222,11717408,10830953,9330641,9149227,9143496,20372915,19642681,19713932,20011587,20215858,20379614 1300255 104 NM_015833,NM_015834,NM_001112,NM_001160230,NR_027672,NR_027673,NR_027674,AL133499,AL163301,AP001579,BX322560,CH471079,Z95973,Z95974,Z95975,Z95976,AB194369,AB194370,AB194371,AB194372,AB194373,AF001042,AF525422,AF533142,AY082339,AY135659,BC030663,BC046198,BC065545,BU726292,U73197,U76420,U76421,U76422,U82120,U82121,X99227,X99383,FJ169506 NP_056648,NP_056649,NP_001103,NP_001153702,CAB90493,EAX09357,EAX09358,EAX09359,EAX09360,EAX09361,EAX09362,CAB09392,BAE16325,BAE16326,BAE16327,BAE16328,BAE16329,AAB58300,AAM83100,AAM97654,AAL99252,AAN10291,AAH65545,AAB18134,AAC51240,AAC51241,AAC51242,AAB61686,AAB61687,CAA67611,CAA67762,O43263,P78563,Q4AE77,Q4AE81,Q6P0M9,Q86XN4,Q8NFA1,Q8TCX7,ACN49027 Hs.474018 ADAR2|DRABA2|DRADA2|RED1 OTTHUMP00000115341|RED1 homolog|RNA editase|RNA editing deaminase 1|RNA-editing deaminase 1|RNA-editing enzyme 1|adenosine deaminase, RNA-specific, B1 (RED1 homolog rat)|adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)|adenosine deaminase, rna-specific, b1|double-stranded RNA-specific editase 1|dsRNA adenosine deaminase|human dsRNA adenosine deaminase DRADA2 protein-coding 736199 ADARB2 adenosine deaminase, RNA-specific, B2 (RED2 homolog rat) 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. 1580863 20709820,18029348,10836796,16344560,15635413,15164054,14702039,12477932,9272162,8889549,11278278,10899322,9330696,9103436,16385451,19197348,20011587,20379614,20923822 105 NM_018702,AC026224,AL392083,AL442069,AL450386,AL513304,CH471072,AF034837,AI695657,AK055107,AK057763,AK094294,AK289895,AK307451,AK308579,BC047443,BC137477,BC139725,BC140852,DA533361 NP_061172,CAH72169,CAH72170,CAH72171,CAH73405,EAW86508,AAF78094,BAG51468,BAF82584,AAH47443,AAI37478,AAI39726,AAI40853,Q5VW42,Q5VW43,Q86X17,Q9NS39 Hs.657984 ADAR3|FLJ25034|FLJ36975|RED2|hRED2 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 protein-coding 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. [provided by RefSeq] 10430867,14702039,12477932,19844255 23536 NM_012091,AC025287,CH471114,AF125188,AK001687,NR_036460,AK296834,AK314652,BC002758,DC395938 NP_036223,EAW95625,EAW95626,EAW95627,AAD48376,BAG59404,BAG37213,AAH02758,Q9BUB4,ABM83927,ABM87246,BAA91837 Hs.188661 HADAT1 adenosine deaminase acting on tRNA|tRNA-specific adenosine deaminase 1|tRNA-specific adenosine-37 deaminase protein-coding 1320091 ADAT2 adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae) 16344560,12477932,12457566,11181995,8889548,20581866 134637 NM_182503,AL031320,CH471051,AK126201,BC037955,BM680217,BX538182,CR616838,DA100320 NP_872309,CAD92490,CAD92491,EAW47867,EAW47868,BAG54295,AAH37955,CAD98054,Q7Z6V4,Q7Z6V5,ACE87213,ACE86534 Hs.709561 DEADC1|DKFZp686L1118|FLJ44213|TAD2|dJ20N2|dJ20N2.1 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 protein-coding 1603369 ADAT3 adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae) 12477932,12457566 113179 NM_138422,AC012615,BC011824,CH471139 NP_612431,AAH11824,Q7Z2S3,Q96EY9,EAW69434,EAW69436,EAW69438 Hs.144980 FWP005|MST121|MSTP121|S863-5|TAD3 OTTHUMP00000206204|tRNA-specific adenosine deaminase 3 homolog|tRNA-specific adenosine deaminase-like protein 3|tRNA-specific adenosine-34 deaminase subunit ADAT3 protein-coding 1606188 ADC arginine decarboxylase 11587527,18330478,17900240,17582600,17558447,16916800,16710414,15670771,15489334,14763899,14738999,14702039,12477932,11853319,19756694,19956990,20147969,20188728 113451 AL020995,CH471059,AB075825,AK057051,AK095127,AK122697,AK315677,AL832640,AY050634,AY050635,AY050636,AY050637,AY050638,NM_052998,AY325129,BC010449,BC028128,CR593091 NP_443724,CAI19353,CAI19354,CAI19355,EAX07469,EAX07470,EAX07471,EAX07472,EAX07473,EAX07474,EAX07475,EAX07476,EAX07477,EAX07478,EAX07479,EAX07480,EAX07481,EAX07482,BAB85531,BAB71356,BAC04489,BAG53674,BAG38042,AAL08049,AAL08050,AAL08051,AAL08052,AAL08053,AAQ62560,AAH10449,AAH28128,Q96A70,ABM82980,ABM86174 Hs.101807 AZI2|KIAA1945|ODC-p|ODC1L ARGDC|ODC antizyme inhibitor-2|ODC-paralogue|OTTHUMP00000004286|antizyme inhibitor 2|arginine decarboxylase|ornithine decarboxylase like|ornithine decarboxylase-like protein|ornithine decarboxylase-paralog protein-coding 1317936 ADCK1 aarF domain containing kinase 1 1580863 15489334,15203218,14702039,12477932,12471243,20877624,16169070 57143 NM_020421,NM_001142545,AC008372,CH471061,AI866496,AK096919,AK126928,AK299430,BC017459,BC058906,BX248292,CD630155,DN996748 NP_065154,NP_001136017,AAF23326,EAW81309,EAW81310,BAG53397,BAG61409,AAH58906,CAD62620,Q86TW2,Q9UIE6 Hs.413208 FLJ39600 aarF domain containing kinase 1 protein-coding 1322312 ADCK2 aarF domain containing kinase 2 20877624,15489334,12853948,12690205,12477932,9110174,8619474 90956 NM_052853,AC006344,AC006452,CH236950,CH471070,AF131745,AY302592,BC014107,CR615064,CR615943 NP_443085,AAD43192,EAL24025,EAW83956,EAW83957,AAP60021,AAH14107,Q7Z695 Hs.725153 AARF|MGC20727 OTTHUMP00000212103|OTTHUMP00000212104|OTTHUMP00000212105|aarF domain containing kinase 2|putative ubiquinone biosynthesis protein AarF protein-coding 1322771 ADCK4 aarF domain containing kinase 4 1580863 12107410,16344560,15489334,14702039,12477932,9110174,8619474,20877624 79934 CA397752,NG_027800,NM_024876,AC010412,CH471126,AF052122,AK022291,AK057199,AU121879,BC013114,BC013884,BC027473,NM_001142555 NP_079152,EAW56987,EAW56988,EAW56989,EAW56990,EAW56991,BAB14004,AAH13114,AAH27473,Q96D53,ABM82617,ABM85800,NP_001136027 Hs.130712 FLJ12229 aarF domain containing kinase 4 protein-coding 1313570 ADCK5 aarF domain containing kinase 5 14702039,12477932,16421571,15489334,20877624 203054 NM_174922,AF205589,CH471162,AK092773,BC031570,BC032402,BC064345,BC085013,BC101659,BC143322,BC143326,BI825038,BM146288,BU845476,CR605986,CR610562,AC233992 NP_777582,EAW82111,EAW82112,EAW82113,EAW82114,BAG52608,AAH31570,AAH64345,AAH85013,AAI01660,Q3MIX3 Hs.283374 FLJ35454|MGC126708 aarF domain containing kinase 5 protein-coding 1350082 ADCP1 adenosine deaminase complexing protein 1 279003 106 1319601 ADCY1 adenylate cyclase 1 (brain) This gene encodes a form of adenylate cyclase expressed in brain. A similar protein in mouse is involved in pattern formation of the brain. [provided by RefSeq] 2312469,1580863 8314585,12626323,19156168,19058789,19029295,17586501,16531006,15361543,15133516,14702039,12853948,12743114,12690205,12503609,12477932,11549699,11299302,8692867,7959689,2121366,10808179,10807185,10089566,11884542,14993377,19726641,19834535,2165385,7937899,8476432,8663304,9417641,20554763 2312469 107 NM_021116,AC069008,AC091439,CH236960,CH471128,AB209496,AF086306,AF497515,AK024415,AK055343,AK095518,AK095665,AL707720,AW956248,BC036858,BC041473,BU181704,CR596735,CR612961,L05500 NP_066939,AAS07467,EAL23741,EAW61042,EAW61043,EAW61044,EAW61045,EAW61046,EAW61047,BAD92733,AAM94372,AAA02907,Q08828,Q59FG4,Q8NFM5 Hs.192215 AC1 3',5'-cyclic AMP synthetase|ATP pyrophosphate-lyase 1|Ca(2+)/calmodulin-activated adenylyl cyclase|adenyl cyclase|adenylate cyclase type 1|adenylate cyclase type I|adenylyl cyclase 1 protein-coding 737484 ADCY10 adenylate cyclase 10 (soluble) The protein encoded by this gene belongs to a distinct class of mammalian adenylyl cyclase that is soluble and insensitive to G protein or forskolin regulation. It is localized in the cytoplasm and is thought to function as a general bicarbonate sensor throughout the body. It may also play an important role in the generation of cAMP in spermatozoa, implying possible roles in sperm maturation through the epididymis, capacitation, hypermotility, and/or the acrosome reaction. [provided by RefSeq] 2312469 9874775,19093065,19064610,18209474,17591988,16344560,16144836,12958208,12609998,12477932,12475901,11932268,11875252,11423534,10915626,10737962,10446129,9694905,12626323,14993377,19536175,20130594,20379614,2165385,7937899,8663304,9417641 2312469 55811 NM_018417,CH471067,Z99943,AF176813,AF271058,AF299350,AF331033,AK302884,AK310395,AK310531,AL035122,BC117366,BC117372,DB063660,NG_016139,NM_001167749,Z97876 NP_060887,EAW90804,EAW90805,EAW90806,EAW90807,CAI20146,CAI20147,AAF65931,AAF74296,AAK96045,AAL57036,BAG64062,CAA22684,AAI17367,AAI17373,Q96PN6,CAI20073,CAI20074,NP_001161221 Hs.320892 HCA2|RP1-313L4.2|SAC|SACI|Sacy 3',5'-cyclic AMP synthetase|AH-related protein|ATP pyrophosphate-lyase|OTTHUMP00000032526|adenylate cyclase type 10|germ cell soluble adenylyl cyclase|hsAC|testicular soluble adenylyl cyclase|testicular soluble adenylyl cyclase (SAC) protein-coding 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] 1298711,1580863,1300048,2312469 1427768,19156168,18519826,16344560,15489334,14702039,12503609,12477932,11549699,11299302,10470851,9268375,9110174,8692867,8619474,7959689,10808179,10807185,10089566,11884542,20664520,12626323,14993377,20379614,2165385,7937899,8663304,9417641 1298711,2312469 108 NM_020546,AC010346,AC010437,AC024577,AC093305,AC113366,CH471102,CS072119,AB028983,AF070583,AF410885,AK123013,AK127036,AK294555,AK295531,AK299775,AK304041,AK307474,BC111743,BE677757,BK000372,CR749634,DB029098,DB481853,L21993,X74210 NP_065433,EAX08097,CAI93390,BAA83012,AAC28647,AAP97285,BAG53849,BAH11807,BAG58443,BAG61658,BAG64952,AAI11744,DAA00058,CAH18428,AAA64923,CAA52282,Q08462,Q71UM8,Q7RTV6 Hs.481545 AC2|FLJ16822|FLJ45092|HBAC2|KIAA1060|MGC133314 3',5'-cyclic AMP synthetase|ATP pyrophosphate-lyase 2|adenylate cyclase II|adenylate cyclase type 2|adenylate cyclase type II|adenylyl cyclase 2|type II adenylate cyclase protein-coding 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] 1580863,2312469,70798,704368 20935630,15815621,15489334,14702039,12782409,12623444,12503609,12477932,12122055,11549699,11299302,11162902,9768837,9628581,8798667,8476432,8034296,7959689,10808179,10807185,10089566,11884542,9920776,18391951,17895882,17586501,17581954,16344560,16303743,12626323,14993377,19576885,20201924,2165385,7937899,8663304,9417641,21042317,21079816 2312469,70798,704368 109 NM_004036,AC012073,CH471053,AB011083,AF033861,AK027857,AK075424,AK095173,AK122926,BC020148,BC126235,BC144119,DA864173 ADR83435,NP_004027,AAY14787,EAX00739,EAX00740,EAX00741,BAA25437,AAD13403,BAG51385,BAC11613,BAG52998,BAG53802,AAI26236,AAI44120,O60266,Q8NBM1 Hs.727540 AC3|KIAA0511 AC-III|ATP pyrophosphate-lyase 3|OTTHUMP00000201145|adenylate cyclase type 3|adenylate cyclase type III|adenylate cyclase, olfactive type|adenylyl cyclase 3|adenylyl cyclase, type III protein-coding 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. [provided by RefSeq] 1580863,1300048,2312469 15489334,14702039,12503609,12477932,11549699,11299302,11055432,7959689,7766992,10808179,10807185,10089566,11884542,12626323,14993377,17081159,2165385,8663304,9417641 2312469 196883 NM_139247,AL096870,CH471078,AF086230,AF088070,AF497516,AK056745,AK122714,AK126468,AK131333,BC015982,BC027943,BC117473,BC117475,BC143947,BX248285,BX537489,NM_001198568,NM_001198592 NP_640340,EAW66023,EAW66024,EAW66025,EAW66026,EAW66027,EAW66028,AAM94373,BAB71270,BAG53686,BAC86560,BAD18492,AAH15982,AAI17474,AAI17476,CAD62613,Q6ZN83,Q6ZTM6,Q86TZ7,Q8NFM4,Q96KY6,NP_001185497,NP_001185521 Hs.443428 AC4 ATP pyrophosphate-lyase 4|OTTHUMP00000164788|adenylate cyclase type 4|adenylate cyclase type IV|adenylyl cyclase 4 protein-coding 736882 ADCY5 adenylate cyclase 5 ADCY5 belongs to the adenylate cyclase (EC 4.6.1.1) family of enzymes responsible for the synthesis of cAMP (Ludwig and Seuwen, 2002 [PubMed 12503609]).[supplied by OMIM] 1300048,2315006,2312469,2315004 17110384,16973443,16641997,14702039,12604604,12503609,11299302,10481931,9748257,9275169,9268375,8206971,8034296,7759492,10808179,10807185,10089566,11549699,11884542,12626323,14993377,20081857,20081858,20372150,20419449,20490451,2165385,8663304,9417641,20571754,19783621,20231277,20484983,20889853,21115086 2315006,2312469,2315004 111 NM_183357,AC025571,AC112503,CH471052,AF497517,AK093840,AK098381,AK124691,BK000371,BX647739,U65473,AK294565,AK302711,AK303070,AK316488,NM_001199642 NP_899200,EAW79450,AAM94374,BAG52770,BAG54070,DAA00057,AAD00121,O95622,AAI56218,BAH11813,BAH13787,BAH13892,BAH14859,NP_001186571 Hs.593293,Hs.655144 AC5 ATP pyrophosphate-lyase 5|OTTHUMP00000215641|OTTHUMP00000215642|OTTHUMP00000215643|adenylate cyclase type 5|adenylate cyclase type V|adenylate cyclase, type V|adenylyl cyclase 5 protein-coding 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] 1580863,1300048,2312469,2312654,2313211,2315006,2315004,2312656 19007881,18936250,17916776,17110384,17007567,16973443,16885208,16713569,16631311,15489334,15470083,15302935,14871025,12782409,12748066,12503609,12477932,12168954,11549699,11299302,11162902,10978539,10481931,9920805,9455477,9388262,9373149,9228084,8125298,8034296,7959689,10808179,10807185,10089566,11884542,12626323,14993377,19546162,2165385,7937899,8663304,9417641,17081159,20732959 2312469,2312654,2313211,2315006,2315004,2312656 112 NM_020983,NM_015270,AC117498,AF250227,CH471111,AB007882,AF250226,AK225224,AK294446,BC064923,BF511227,BX537664,U65474 NP_066193,NP_056085,AAF82479,EAW58001,EAW58002,BAA24852,AAF82478,BAG57685,AAD00122,O43306,Q6LCE1,Q9NR74 Hs.525401,Hs.694408 AC6|DKFZp779F075|KIAA0422 ATP pyrophosphate-lyase 6|adenylate cyclase type 6|adenylate cyclase type VI|adenylyl cyclase 6|ca(2+)-inhibitable adenylyl cyclase protein-coding 735780 ADCY7 adenylate cyclase 7 This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. [provided by RefSeq] 1298709,1580863,2312469 7860067,19008230,18541530,17135423,16344560,15581358,15489334,14702039,12503609,12477932,12454008,11665607,11299302,9034014,7584028,7584026,10808179,10807185,10089566,11884542,11113152,12626323,14993377,17760784,19874574,2165385,7937899,8663304,9417641 1298709,2312469 113 NM_001114,AC007597,CH471092,AK093706,BC039891,BC098566,BC126271,BC144120,BM543987,BU631614,CR625611,D25538,DA047753 NP_001105,EAW82753,EAW82754,EAW82755,BAG52752,AAH39891,AAI26272,BAA05021,P51828,Q86YI0 Hs.513578 AC7|FLJ36387|KIAA0037 ATP pyrophosphate-lyase 7|OTTHUMP00000164225|adenylate cyclase type 7|adenylate cyclase type VII|adenylyl cyclase 7 protein-coding 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] 1300048,2312469,1580863 8163524,12626323,8076676,19171672,19156168,19029295,18480272,18163389,17586501,16613843,16258073,12890691,12503609,12477932,11457491,11299302,11076863,10075700,1715695,1427768,10808179,10807185,10089566,11884542,14993377,19691954,20379614,2165385,7937899,8476432,8663304,9417641,20677014,20410303,21116278,20675917 2312469 114 NM_001115,AC011974,AC037453,AC087341,AC103726,CH471060,DQ104739,DR003657,M83533,Z35309 NP_001106,EAW92135,AAZ13596,AAA35523,CAA84552,P40145,Q4F7X0,AAI11457 Hs.591859 AC8|ADCY3|HBAC1 ATP pyrophosphate-lyase 8|adenylate cyclase type 8|adenylate cyclase type VIII|adenylyl cyclase 8|adenylyl cyclase-8, brain|ca(2+)/calmodulin-activated adenylyl cyclase protein-coding 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] 1580863,2312469,1358365 9628827,19156168,16344560,15879435,14996950,12972952,12503609,12168954,12082561,11840511,11299302,9628581,8662814,10808179,10807185,10089566,11884542,14702039,20101707,20157112,20935630,12477932,12626323,14993377,20175803,20459687,20522523,2165385,7937899,8663304,9417641 2312469,1358365 115 NM_001116,NG_011434,AC005736,AY028959,CH471112,AB011092,AF036927,AJ133123,AU141090,AW518323,BC068612,BC136657,BC136658,BC151207,BC151229,BI770493,DQ005545,DQ008441,AK022108,BQ614080 NP_001107,AAK29464,EAW85331,EAW85332,BAA25446,AAC24201,CAB65084,AAI36658,AAI36659,AAI51208,AAI51230,AAY21237,AAY27880,O60503 Hs.391860,Hs.610484 AC9|FLJ12046 ATP pyrophosphate-lyase 9|adenylate cyclase type 9|adenylate cyclase type IX|adenylyl cyclase 9|type IX ATP pyrophosphate-lyase protein-coding 732730 ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) This gene encodes adenylate cyclase activating polypeptide 1. Mediated by adenylate cyclase activating polypeptide 1 receptors, this polypeptide stimulates adenylate cyclase and subsequently increases the cAMP level in target cells. Adenylate cyclase activating polypeptide 1 is not only a hypophysiotropic hormone, but also functions as a neurotransmitter and neuromodulator. In addition, it plays a role in paracrine and autocrine regulation of certain types of cells. This gene encodes three different mature peptides, including two isotypes, a shorter form and a longer form. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863,1300256,2325295,2315956,2325258,2325308,2325255,2315964,2325309,2325314,2325306,2325298 20500521,2302217,16805430,1730060,10698193,16939974,19470168,19269029,19120039,19086053,18782879,18353507,18349695,17962362,17470806,17430174,17387318,17175032,16888207,16697281,16687279,16493055,16226889,16148159,15834139,15518890,15489334,15356166,20675276,15048918,15036651,12948842,12754213,12716746,12686458,12573802,12504599,12477932,12429744,12417650,12409225,12409223,12145407,11972030,11968092,11713978,11515750,11350957,10921074,10583729,10562300,9313778,8504103,8394765,8353512,8253796,8146174,8012384,1739432,1483839,1335692,20034524,17431645,18240029,19701709,19712974,19914336,19926922,20072116,20133634,20180986,20414143,20468064,7680413,20554694,12036966,20671407,18577758 1300256,2325295,2315956,2325258,2325308,2325255,2315964,2325309,2325314,2325306,2325298 116 NM_001099733,NM_001117,AP000894,AY592943,AY592948,CH471113,X60435,Z64808,AK294233,AK313050,BC093837,BC101803,CR603595,DC320719,DN991692,S83513 NP_001093203,NP_001108,AAT92256,AAT92261,EAX01706,CAA42962,BAH11708,BAG35881,AAH93837,AAI01804,AAB21470,P18509,Q53BH1,Q53BH6 Hs.531719 MGC126852|PACAP OTTHUMP00000162201|adenylate cyclase activating polypeptide 1|pituitary adenylate cyclase-activating polypeptide 2314813 INSUL28_H protein-coding 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. Alternative splicing of two exons of this gene generates four major splice variants, but their full-length nature has not been determined. [provided by RefSeq] 1580863,2315956,2315964 16805430,16939974,7902709,19269029,19086053,18353507,17470806,16888199,16823490,16572459,16401644,16372333,16226889,15670850,15518890,14742913,12948842,12732341,12690205,12573802,12477932,12409233,12409223,11959368,11930171,10764955,10698193,10583729,10562300,10235634,9543159,8954788,8933357,8770902,8703026,8663363,8253796,7851900,20395540,20026142,18240029,19926922,12036966,18577758,16344560 2315956,2315964 117 BC143679,D17516,AACC02000087,AB065700,AC006466,CH471073,U09216,AI815550,AK226138,AK290046,AY366498,AY462278,AY462279,AY495951,AY495952,BC117116,BC136267,NM_001118,CA432770,DA809763,NM_001199635,NM_001199636,NM_001199637 AAI43680,BAA04466,P41586,Q17S10,Q6RKA2,Q6RKA3,Q6S991,Q6S992,NP_001109,EAL24444,BAC05923,EAW93978,AAA19323,BAF82735,AAQ72806,AAR26314,AAR26315,AAR87870,AAR87871,AAI17117,AAI36268,NP_001186564,NP_001186565,NP_001186566 Hs.377783 PAC1|PACAPR|PACAPRI OTTHUMP00000202503|OTTHUMP00000202504|OTTHUMP00000202505|PACAP type I receptor|PACAP-R-1|PACAP-R1|adenylate cyclase activating polypeptide 1 (pituitary) receptor type 1|adenylate cyclase activating polypeptide 1 receptor 1|pituitary adenylate cyclase activating polypeptide 1 receptor type I Hiphop|pituitary adenylate cyclase-activating polypeptide type I receptor protein-coding 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] 1298717,1302895,631736,1331525,1624953,1580863,1559299 7642559,16289097,3693401,8626479,10823823,19274077,19263529,19247266,19243623,19238444,19242491,19199261,19166692,19148102,19145770,19145769,19131662,19103106,19057513,19047752,18977990,18800139,18787518,18679149,18667944,18660489,18657677,18591455,18524856,18513389,18475162,18458162,18413308,18398333,18393230,18003973,17984662,17921817,17825147,17765140,17472579,17452507,17301826,17267840,17215849,17189961,17083073,17082469,17081983,17051589,17003363,16970091,16724011,16702981,16615274,16612256,16531798,16497648,16450155,16420563,16392768,16314886,16266470,16100725,16080807,16043664,15910744,15834281,15824464,15822905,15815621,15773232,15716695,15608390,15554870,15493144,15378162,15326084,15302935,15187197,15110895,15097233,15059531,15055253,15039125,14733918,14643575,14553962,14530292,14508192,13679477,12885793,12697976,12427140,12394950,12195119,12195118,12172317,12623934,12477932,12107246,12082592,12052841,11926892,11918988,11918733,11882573,11847182,11775124,11728946,11711521,11528213,11518842,11447495,11283377,11116113,11110979,10950304,10585876,10516168,10391210,10209029,9679146,9674650,9149697,8946164,8810272,8663089,7959767,7774961,7490111,3600811,2976282,1840603,1345173,1284592,19443911,19479237,19559392,19567882,19574959,19620885,19729965,19779330,19779464,19838659,19960031,20145305,20160191,20237496,20473689,19913121,20536507,20565774,20577119,20628086,20667857,17074803,20838486,20877298,20927398,20929695 1298717,1302895,631736,1331525,1624953,1559299 118 NM_176801,NM_014189,NM_014190,NM_001119,NG_012037,AL121750,AL390065,BX465861,CH471131,L29296,Z68280,Z74617,AK025413,AK295457,AK298523,AK309186,BC013393,BC042998,CR594983,CR611875,CR618963,CR936693,D44632,L07261,S70312,S70314,X58141 NP_789771,NP_054908,NP_054909,NP_001110,CAM21297,CAM21298,CAM21299,CAM25273,CAM25274,CAM25275,EAW82498,EAW82499,EAW82500,EAW82501,EAW82502,EAW82503,EAW82504,EAW82505,AAB05645,CAI95603,CAA98970,BAG58391,BAG60726,AAH13393,AAH42998,AAB30913,AAB30914,CAA41149,P35611,Q16155,Q4TT76,Q86XM2,Q96D30,CAM28230,CAM28231,CAM28232 Hs.183706 ADDA|MGC3339|MGC44427 OTTHUMP00000151163|OTTHUMP00000151164|OTTHUMP00000151165|OTTHUMP00000218664|OTTHUMP00000218665|adducin 1, alpha|alpha-adducin|erythrocyte adducin alpha subunit|erythrocyte adducin subunit alpha protein-coding 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. Various adducin beta mRNAs, alternatively spliced at 3'end and/or internally spliced and encoding different isoforms, have been described. The functions of all the different isoforms are not known. [provided by RefSeq] 1298717,1625293,1331525,1300257,1580863 7642559,3693401,8626479,18959617,18787518,18667944,18003638,17854487,17301826,16497648,16116087,16105548,15963851,15834281,15815621,15716695,15528469,15489334,15345747,15146197,14553963,14517477,12951058,12653680,12477932,12427140,11526103,10485892,9679146,9244430,8810272,8566798,8563174,7999065,7707875,7490111,1840603,16344560,19838659,20379614,8889549,19913121,20628086 1298717,1625293,1331525,1300257 119 BC041666,BC051882,BC056881,BC065525,CN428088,CR590670,U43959,NM_017488,NM_017482,AC005234,AC007395,AF001597,CH471053,NM_001617,S81079,S81083,AB209227,AF486420,AF486421,AF486422,AF486423,AK291007,AK297250,AK309773,BC008709,BC010237,BC011416,BC027876,BX119247,DA501584,N53078,NM_001185054,NM_001185055 AAH41666,AAH51882,AAH56881,AAH65525,AAA86421,P35612,Q05DK5,Q96HD4,NP_001608,NP_059522,NP_059516,AAD12715,EAW99798,EAW99799,EAW99800,EAW99801,EAW99802,EAW99803,EAW99804,EAW99805,EAW99807,EAW99808,AAD14349,BAD92464,AAP71863,AAP71864,AAP71865,AAP71866,BAF83696,BAG59729,AAH08709,AAH10237,EAW99806,NP_001171983,NP_001171984 Hs.188528 ADDB OTTHUMP00000203377|OTTHUMP00000203378|OTTHUMP00000203909|OTTHUMP00000203961|adducin 2, beta|beta adducin|beta-adducin|erythrocyte adducin subunit beta protein-coding 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] 1300354,1300258,1580863,2317717 8893809,18787518,18667944,18475162,17081983,15963851,15834281,15716695,15561718,15489334,12477932,11895774,10581174,10485892,9373149,8125298,2503523,20460270,16385451,20379614,19913121,20628086 1300354,1300258,2317717 120 NM_019903,NM_016824,NM_001121,AL162613,AL590628,CH471066,Y14372,AB209810,AK130789,AK223270,AK291488,AL600737,BC021694,BC043143,BC057285,BC062559,BI544596,BX647403,BX647442,BX648016,CF457028,D67031,EF553523,U37122 NP_063968,NP_058432,NP_001112,CAH71739,CAH71740,EAW49571,EAW49572,EAW49573,EAW49574,CAB51805,CAB51806,BAD93047,BAD96990,BAF84177,AAH62559,CAI46048,BAA23783,AAB17126,Q53FL4,Q59EK1,Q5VU08,Q9UEY8 Hs.501012 ADDL adducin 3, gamma|adducin-like protein 70|gamma-adducin protein-coding 1352182 ADFN albinism-deafness syndrome 122 730882 ADFP adipose differentiation-related protein Adipocyte differentiation-related protein is associated with the globule surface membrane material. This protein is a major constituent of the globule surface. Increase in mRNA levels is one of the earliest indications of adipocyte differentiation [provided by RefSeq] 1625752,1580863 9003395,19054096,18832575,18827892,18606814,18393390,18188946,17927964,17620659,17446422,17322100,17200350,16936283,16884492,16808905,16489205,16391323,16230742,15545278,15489334,15336557,14707038,14671211,12591929,12477932,12387890,12114189,9799447,1518805,15136565,19169702,19351497,19602560,19638644,19843633,19851831,20032580,20118912,20143336 1625752 123 CR615308,CR618768,CR605429,CR620358,CR624951,X97324,AL591206,CH471071,AF443203,AK296125,AK297920,AK312983,BC005127,BE311586,CR536541,CR592339,CR597463,CR600009,CR600234,NM_001122 CAA65989,Q5SYF3,Q5SYF5,Q6FHZ7,Q99541,ABM83903,ABM87224,NP_001113,CAI12265,CAI12266,CAI12267,CAI12268,EAW58648,EAW58649,EAW58650,EAW58651,AAL35614,BAG58871,BAG60238,BAG35820,AAH05127,CAG38778 Hs.3416 ADFP|ADRP|MGC10598 adipophilin|adipose differentiation-related protein|perilipin-2 protein-coding 1349763 ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide This gene encodes class I alcohol dehydrogenase, alpha 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. This gene is monomorphic and predominant in fetal and infant livers, whereas the genes encoding beta and gamma subunits are polymorphic and strongly expressed in adult livers. [provided by RefSeq] 1580863 12050823,16712791,11329013,9982,16153155,2347582,19343046,19193628,19124506,18828806,18510611,18331377,17632320,17185388,16685648,15489334,15279067,14634838,12477932,12392591,12081471,11356310,11303599,10424757,3013304,3006456,2935875,2920825,2737681,2169444,1620113,19526455,19618839,19687126,19874574,19913121,20628086,20634891,20872569 124 NM_000667,AC097530,AY948115,CH471057,M32656,M37066,AK290558,AK309597,BC074738,BC117442,BC126306,BT019812,M12271,M12963,BG199182,CB116632 NP_000658,AAX20115,EAX06093,EAX06094,AAA52276,AAA51591,BAF83247,AAH74738,AAI17443,AAI26307,AAV38615,AAA68131,AAA51590,P07327 Hs.654433 ADH1 ADH, alpha subunit|alcohol dehydrogenase 1 (class I), alpha polypeptide|alcohol dehydrogenase 1A|alcohol dehydrogenase subunit alpha|aldehyde reductase protein-coding 1348288 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq] 1580863 9982,2398055,19618839,19527514,19486361,19469618,19449376,19420105,19403456,19365573,19343046,19339270,19298323,19262484,19250143,19193628,19185835,19164089,19124506,19124091,19094228,19068087,19019335,18996923,18936436,18818748,18784359,18782342,18773092,18763293,18761854,18715275,18516948,18510611,18500343,18439068,18382665,18336671,18336668,18331377,18322963,18299763,18266839,18254707,18216179,18078815,18056758,18049455,18033686,17963305,17923853,17885622,17850643,17847010,17762315,17631643,17618743,17559546,17517051,17515815,17489985,17486761,17471563,17454860,17421009,17295732,17293864,17292341,17289126,17285601,17279314,17268812,17250612,17207821,17185388,17180580,17134660,17134659,17071628,17036331,16970620,16958672,16930209,16822169,16758956,16737450,16702384,16685648,16608143,16600530,16520888,16440362,16423594,16404797,16385179,16358724,16332725,16324524,16309369,16307179,16235983,16184481,16163053,16135443,16127737,16117582,16086315,16078602,16006997,15957670,15902904,15886702,15863807,15842823,15597094,15542751,15534263,15519646,15511718,15489334,15456134,15342556,15327835,15318112,15318096,15220553,15162847,15084894,14768474,14745297,14693654,14634838,12915519,12915514,12884000,12824748,12777946,12713190,12710951,12668919,12658118,12554615,12545748,12519453,12517056,12505800,12477932,12461493,12452180,12419833,12351924,12244546,12213289,12211622,12189549,12173598,12153842,12089173,12081471,12080432,11966948,11781511,11781503,11748356,11696658,11584144,11410735,11398342,11274460,11259352,11238183,11117576,11051375,10733556,10424757,8663387,8201622,6391920,6374651,3619918,3397059,3006456,3000832,2986130,2935875,2935533,2737681,2679216,2547609,2347582,2295648,2210383,2169444,1896463,19452585,19550411,19655364,19667493,19687126,19698717,19706845,19751749,19769429,19799139,19812523,19826048,19860798,19861527,19874574,19887496,19898482,19948975,20010786,20025435,20031627,20077761,20101753,20169287,20171022,20180859,20205700,20219057,20336794,20357489,20401433,20403997,20437850,20477764,20477767,20494945,19913121,20568895,20598484,20628086,20634891,20685249,20806441,20833657,20140262,20700531,21048924 125 NM_000668,NG_011435,AC097530,AF040967,DQ017646,L38290,M24308,M24316,M32657,X15447,AF153821,AI702614,AK299409,AK301018,AK303945,AK304396,AK316501,BC033009,BP317995,BX641105,BX647469,D00137,M21692,M24317,X03350,CH471057 AAB96912,NP_000659,EAX06095,EAX06096,EAX06097,EAX06098,AAY22180,AAB48003,AAB59496,AAA52277,CAA33487,AAD37446,BAG61391,BAG62635,BAG64873,BAG65231,BAH14872,AAH33009,BAA00084,AAA51592,AAA51884,CAA27056,P00325 Hs.4 ADH2|DKFZp686C06125 ADH, beta subunit|alcohol dehydrogenase 1B|alcohol dehydrogenase 2 (class I), beta polypeptide|alcohol dehydrogenase subunit beta|aldehyde reductase protein-coding 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] 1580863,1559302,2325313 2935875,6391921,19343046,19339270,19193628,19189524,19124506,19120062,19068087,19038239,19019335,18996923,18936436,18846501,18818748,18773092,18761854,18676680,18510611,18331377,18268116,18266839,18254707,18043297,17923853,17885622,17665311,17631643,17629074,17563066,17559142,17543846,17517051,17454860,17449906,17421009,17379229,17295732,17285601,17268812,17185388,17134660,17071628,17018785,16930209,16801984,16758956,16737450,16685648,16675441,16600530,16440362,16415175,16344274,16287084,16239350,16184481,16132793,16117582,16086315,16051248,16039674,16018848,15941567,15910847,15902904,15897724,15863807,15842377,15767341,15734975,15643610,15642852,15519646,15511718,15489334,15375565,15370874,15327835,15318112,15220553,15138216,14745297,14732773,14726542,14693654,14691069,14634838,14608084,12915519,12884000,12782305,12750236,12713190,12710951,12668919,12658118,12631283,12554615,12517056,12505800,12500098,12477932,12376487,12173598,11966948,11802217,11752857,11748356,11740346,11700261,11696658,11303599,11274460,11207350,11159741,11051375,11045794,10424757,10405330,8201622,7771649,3758060,3397059,3006456,2737681,2347582,2169444,1896463,1524834,9982,15654505,16712791,19170196,19447389,19486361,19527514,19550411,19581569,19618839,19625176,19692168,19812523,19861527,19874574,19887496,19898482,19948975,20031627,20101753,20169287,20171022,20180013,20205700,20350778,20357489,20401433,20437058,20437850,20448861,20453000,20477767,20494945,6391957,19913121,20568895,20615890,20628086,20634891,20810466,20700531 1559302,2325313 126 BC074786,CB114902,M12272,X04299,X04350,NG_011718,AC097530,AF031832,CH471057,D11067,DQ088981,M32658,BC062476,BC066227,BC066228,BC067419,BC067420,BC067421,BC067422,BC074771,NM_000669 AAH74771,AAH74786,AAC41757,CAA27842,CAA27876,P00326,Q71V49,NP_000660,AAC05739,EAX06099,EAX06100,BAC06856,AAY68222,AAA52278,AAH62476,AAH66227,AAH66228,AAH67419,AAH67420,AAH67421,AAH67422 Hs.654537 ADH3 ADH, gamma subunit|OTTHUMP00000220209|alcohol dehydrogenase 1C|alcohol dehydrogenase 3 (class I), gamma polypeptide|alcohol dehydrogenase subunit gamma|aldehyde reductase protein-coding 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] 1580863,1300048 10407146,15369820,3466164,16787387,19343046,19193628,19182438,18996923,18801187,18331377,17069770,16237392,16220108,15863808,15489334,14745297,12631290,12477932,11997393,11964133,11916005,11900616,11752456,11279029,11009184,9570155,8032153,3036213,1889753,1362387,19687126,19861527,19874574,19898482,19925625,20363298,20453000,18029348,20800603,20626721,20634891,17207965 127 NM_000670,AC019131,AP002026,AY974245,CH471057,X56411,X56419,AK290835,AK295556,AK313649,AV659364,BC022319,M15943 NP_000661,AAX59034,EAX06088,EAX06089,CAA39813,BAF83524,BAG58459,AAH22319,AAA51595,P08319,ADQ32176 Hs.1219 ADH-2 OTTHUMP00000219912|OTTHUMP00000220033|alcohol dehydrogenase 4|alcohol dehydrogenase class II pi chain|aldehyde reductase protein-coding 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] 1580863 2679557,20308539,8460164,6375718,19165527,18996923,18636124,18331377,18095160,17543375,17185388,16685648,15489334,14608084,12484756,12477932,12196016,12141816,12004059,10978156,10661511,9018047,8503936,8494891,7948423,6424546,3365377,2936344,2934732,2818582,1453005,1446828,16169070,19514054,19596685,19874574,19898482,20158305,20335826,20371487,20634891,20677014,20819778 128 AC019131,AY987960,CH471057,M81112,M81118,AK129570,AK226177,AK312367,BC014665,BC070491,BQ881561,BT019832,BT019833,NM_000671,CR536491,CR541689,CR590837,CR592134,CR593976,CR598204,CR603698,CR606065,CR616221,CR617310,CR619952,CR622943,CR625434,CR625527,M29872,M30471 NP_000662,AAX81412,EAX06084,EAX06085,EAX06086,AAA51596,BAG35285,AAH14665,AAH70491,AAV38635,AAV38636,CAG38730,CAG46490,AAA51597,AAA79018,P11766,Q5U043,Q6FI45,Q6IRT1 Hs.78989 ADH-3|ADHX|FDH|GSNOR FALDH|GSH-FDH|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 protein-coding 1344715 ADH5P1 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 1 1446828 129 1342585 ADH5P2 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 2 2818582 343296 NG_008685,AL606527 pseudo 1352662 ADH5P3 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3 2818582,2294756 100131810 NG_008686,AL359918 pseudo 1342497 ADH5P4 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 4 16201836,2818582,20800603 642443 NG_008303,AL391500,DQ120656 ABB92441,Q2VIM7 ADH5B|RCADH5|bA707M13.2 pseudo 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] 1580863 7695785,2198032,1881901,1755855,1593644,19343046,17185388,16685648,14702039,12477932,12050823,11095947,10975466,19698717,19874574,20819778 130 NM_000672,AP002026,AY962311,CH471057,M84402,M84409,AJ278908,AK092768,AK298290,AK316326,BC039065,NM_001102470 Q8IUN7,Q9H1A0,NP_001095940,NP_000663,AAX44051,EAX06090,EAX06091,AAA35509,CAC10399,BAG52607,BAG60550,BAH14697,AAH39065,P28332 Hs.586161 ADH-5 OTTHUMP00000161648|OTTHUMP00000220107|alcohol dehydrogenase 6|aldehyde reductase protein-coding 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. [provided by RefSeq] 1580863 7876099,9600267,9228021,11997393,19343046,19193628,18500343,18331377,18231859,17921519,17918242,17486761,17185388,16685648,16180008,15456134,14502680,9373149,8824810,8195208,8125298,8082805,8074657,7925371,7876191,7771649,1592118,10631979,12477932,15028279,16344560,19609347,19687126,19861527,19874574,19898482,20158305,20336794,8889548,20700531,20800603,10969996,11410738 131 AP001960,CH471057,L47166,U16286,U16293,AK223472,AK301657,AK301696,AK310811,AK312854,BC131512,BX476080,CD697521,L33179,NM_000673,S77168,U07821,U09623,X76342,CA311897,CD014081,DB204496,DB350054,NM_001166504 NP_000664,EAX06101,AAB38424,AAC51351,BAG63133,BAG63168,BAG35707,AAI31513,AAA59211,AAB34478,AAA19002,AAA82165,CAA53960,CAA53961,P40394,NP_001159976 Hs.389 ADH-4|ADH4 OTTHUMP00000214819|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 protein-coding 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] 1580863 16712791,16435184,19013439,16616524,15221005,14702039,12592711,12477932,20877624 137872 NM_144650,AC009879,CH471068,AB075879,AK056992,AK293530,AK294114,AK300243,AK300881,AY033237,BC047492,BC064634,BC110290,BE241883,BG698892,BQ182872,CB157325 NP_653251,EAW86901,EAW86902,EAW86903,EAW86904,EAW86905,EAW86906,EAW86907,BAD38661,BAB71335,BAG57012,BAG57448,BAG62010,BAG62523,AAK44223,AAH64634,Q8IWW8 Hs.720023 ADH8|FLJ32430|HMFT2263|HOT|MGC48605 Fe-containing alcohol dehydrogenase 1|OTTHUMP00000211260|alcohol dehydrogenase 8|alcohol dehydrogenase iron-containing protein 1|hydroxyacid-oxoacid transhydrogenase, mitochondrial protein-coding 1602478 ADI1 acireductone dioxygenase 1 16344560,19626614,20379614,17207965,15938715,14718544,11602742,17786183,17212658,15815621,15489334,15221005,14702039,12477932,9373149,8125298,17353931,16712791 55256 AC231981,CB129674,DA559726,CR603459,NM_018269,AC114810,AC142528,AB073609,AB158319,AF087863,AF403478,AK001775,AK127473,AK222467,AK225278,BC001467,CR592882,CR593705,CR595221,CR595303,CR595663,CR598608,CR602689,CH471053,CR604038,CR604779,CR605242,CR607574,CR609057,CR611145,CR617197,CR624357,CR624573,CR625343,FB342953,FB711076 NP_060739,AAY24022,AAX82038,EAX01064,EAX01065,BAD38646,BAD10866,AAP97173,AAL25800,BAA91901,BAC86996,BAD96187,AAH01467,ADQ33221,Q9BV57,CAR81477,CAS91493 Hs.502773 APL1|ARD|FLJ10913|HMFT1638|MTCBP-1|MTCBP1|SIPL 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase|MT1-MMP cytoplasmic tail-binding protein-1|membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1|submergence induced protein 2 protein-coding 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] 15567149,16132694,12477932 149685 NM_001018082,AL035419,CH471077,AA974242,BC029594,BC119704,BC119705,BX105371,HC044655 NP_001018092,CAI19166,CAM27454,EAW76017,AAI19705,AAI19706,Q0VDE8,Q5TG32,ABM82428,ABM85620,AAH29594,CBH30657 Hs.368028 KIAA1219|MGC149650|MGC39724|RP5-1100H13.2|SMAF1 adipogenesis associated|adipogenin|small adipocyte factor 1 (SMAF1) protein-coding 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. [provided by RefSeq] 1642458,1642395,2313239,2313230,2313236,1599133,1599139,1599144,1599145,1599146,1599149,1599150,2313234,2313238 20153676,20179358,20185863,20443850,19086185,19085030,19082693,19077438,19074982,19067777,19056609,19056482,19041092,19039084,19037660,19035456,19033408,19031217,19026557,19019483,19013427,19011278,19004538,19003726,18997670,18997620,18996964,18996753,18983522,18979162,18979105,18974768,18958929,18957939,18949681,18946779,18931025,18930040,18854016,18842390,18830896,18828733,18828732,20350696,20442584,20593932,20621019,20643815,20418665,20580627,20703446,21059469,20684825,20819268,21114131,19328242,19650786,19714754,20184866,20385503,19538214,20450790,20583136,19496970,20150891,20376890,20395593,20047566,20345321,20430175,20513355,10604883,18703020,19631916,19606391,19584883,19544118,19543786,19542908,19533865,19506043,19491387,19484180,19481913,19475640,19470634,19453261,19436139,19434763,19430341,19429700,19426893,19426517,19424644,19422999,19420105,19414798,19408174,19376162,19369430,19367093,19359061,19344901,19337790,19328578,19324915,19322011,19282610,19273568,19269196,19267370,19267280,19266101,19265272,19264763,19263799,19261346,19246975,19246322,19244090,12611609,10982546,12021245,10095105,11222466,10961870,19238139,19236311,19233263,19223612,19223200,19219061,19217451,19214966,19202898,19197253,19193342,19190112,19189686,19183842,19181412,19178518,19173941,19169222,19165155,19159917,19154962,19154958,19138981,19131459,19120901,19118830,19116237,19115685,19109202,19107905,19107128,19106268,18799090,18778866,18777458,18776141,18773295,18762168,18753423,18716158,18713296,18712036,18701434,18695734,18694861,18693056,18690350,18680072,18678874,18671144,18670142,18666256,18660489,18650840,18647807,18645733,18827209,18824864,18823886,18823720,18818986,18624608,18622594,18595130,18593824,18591837,18571119,18565022,18563681,18563679,18563283,18562232,18550492,18548168,18547236,18537100,18537097,18523726,18522702,18511746,18511057,18510797,18510435,18506375,18505467,18504547,18498634,18496510,18494805,18492757,18475046,18474846,18469485,18469483,18468820,18465144,18455165,18451143,18446001,18445880,18445670,18442802,18431508,18429970,18425718,18424891,18419742,18414778,18404970,18398047,18390991,18386294,18376301,18362504,18362454,18349107,18347511,18346990,18344634,18339975,18335040,18328815,18319712,18315699,18313838,18311774,18472252,17687539,17686833,17684408,17684226,17679810,17678873,17663805,17652887,15780820,15778860,15769985,15760495,15757860,15757855,15749025,15745931,15743998,15736110,15736103,15735225,15734870,15734793,15701829,15692106,15690190,15684637,15677512,15648019,15618990,15616802,15616040,15616038,15598689,15598678,15590747,15588241,15583845,15563965,15562208,15547300,15544426,15528304,15504979,15502375,15489334,15476445,15454091,15371566,15369797,15340161,15334388,15333487,15331562,15319349,15292348,15292345,15292342,15292306,15277433,15248834,15246202,15239085,15231997,15220253,18299442,18299313,18294218,18292758,18292388,18289773,18288276,18280066,18273754,18267956,18259684,18241619,18239655,18239630,18239579,18239552,18239140,18230834,18230826,18230270,18223631,18222959,18221467,18208577,18202542,18202246,18202126,18198351,18198311,18192541,18191060,18182989,18180052,18179772,18175063,18164019,18163210,18160463,18299467,18159094,18096839,18084018,18071343,18070989,18063927,18059079,18054040,18036314,18021784,18006102,17992641,17992633,17991878,17984573,17984105,17980008,17973869,15209773,15200411,15181044,15178661,15167446,15161804,15132729,15132722,15123570,15116265,15096450,15081415,15070952,15063429,15057675,15055475,15047634,15044670,15010338,15001632,14988295,14983034,14961165,14766203,14764792,14752031,14749263,14747242,14747205,14739054,14733921,14718574,14715850,14715832,14699128,14693717,14681833,14675060,14673476,14671185,14671149,14654554,14633820,14633806,14607907,14602778,14557259,14551684,14551151,14522956,14514348,12970275,12944390,12923129,12882843,12878598,12876073,12870165,12860835,12855752,12843170,12832305,12829646,12829629,12827245,12827242,12803245,12802337,12788897,12788878,12788865,12788102,12766104,15210937,12765944,12750819,12736161,12728641,15919796,15905315,15902402,15897668,15897474,15889231,15877296,15877287,15877215,15875155,15864528,15863955,15862282,15855579,15855354,15855264,15850785,15842511,15830179,15803114,15798954,15798948,15797955,15797948,15794918,15793855,17970702,17967974,17966120,17965488,17965293,17949565,17945166,17939853,17939592,17938644,17932317,17923272,17914101,17911635,17903300,17900532,17893004,17890489,17879019,17822721,17786291,17785955,17714716,17712725,17712123,17709916,17706206,17705672,17702846,17697863,12727947,12716750,12713059,12694320,12679491,12679468,12679465,12679444,12679439,12663465,12660878,12660877,12660876,12660875,12634431,12547850,12540592,12517687,12496257,12477932,12473840,12436346,12429873,12388136,15220246,17651832,17651673,17630265,17625082,17624354,17618943,17616856,17611906,17604011,17601884,17585917,17575367,17573060,17562334,17526810,17521614,17505945,17495599,17490776,17486299,17477992,17468256,17465703,17454170,17452504,17445536,17445531,17426101,17426091,17420337,17399685,17389708,17383891,17374708,17357284,17348431,17342473,17335469,17334638,17334513,17332688,17325687,17325257,17322499,17311679,17303804,17287418,17277888,17264850,17264468,17259495,17259488,17241533,17239889,17229078,17222292,17209173,17205522,17192291,17189871,17184143,17178123,17143557,17141242,17123536,17119002,17118479,17113059,17112494,17112391,17095862,17084402,17081797,17080261,17065694,17065691,17065357,17054465,17052201,17033258,17030959,17019599,17011566,17006986,17005524,16995820,16990411,16978998,16955209,16954217,16944773,16939660,16933180,16926524,16921786,16896567,16894363,16891099,16877558,16872712,16864145,16822679,16806559,16804063,16802369,16801926,16801592,16788799,16741355,16735961,16731835,16685053,16678125,16675483,16670304,16648605,16644713,16644690,16631275,16621799,16618984,16609880,16608891,16607383,16586545,16574896,16570162,16567542,16565557,16554029,16552343,16547285,16546285,16545001,16530178,16529829,16525810,16497731,16443793,16443790,16443770,16421345,16419358,16418740,16408269,16407204,16404369,16403434,16380500,16380487,16373895,16358955,16352688,16335909,16331577,16324920,16256387,16254197,16253634,16231017,16210704,16204361,16203766,16170833,16160698,16157772,16140297,16139921,16135012,16123487,16122151,16118250,16115611,16111669,16109902,16106049,16078018,16055459,16039610,16028335,15955133,15942768,15936715,15928248,15926113,15920062,15920060,15919832,15919831,12354786,12153737,12086969,12086965,11912203,11812766,11756320,11700024,11571669,11479627,11162643,10918532,10741683,10403784,9765595,8947845,8631877,8619847,7592907,20010617,20033714,20413520,20552610,19249901,20065611,20142200,20662345,19238142,19095778,18827813,18632660,18472407,18300743,12378384,17669243,19549246,20368216,20375206,20382752,19025443,19032037,19913121,20188864,20530094,20552210,20573249,20576642,20580771,20597906,20628086,20664545,20667095,20679960,20681271,20682687,20685864,20697428,20733583,20802460,20821366,20587319,20734064,20840785,20842437,20848215,20855565,20876611,20878967,20930713,20964254,21044781,21054480,21073447,21082232,21106915,19606374,20215915,20486084,20819416,20564003,20836881,12368907,18579237,18616920,18624998,18710474,18774612,19051043,19081562,19127209,19196212,19217624,19225215,19226262,19288226,19348608,19404197,19473823,19476644,19502655,19519172,19520843,19523465,19524870,19530957,19530958,19542749,19545925,19553931,19556717,19556723,19559018,19560452,19570238,19573164,19578796,19579094,19589139,19590232,19591073,19608729,19617629,19619110,19622782,19640330,19661351,19661719,19672024,19690575,19696691,19714593,19716142,19717956,19723917,19732895,19734573,19747414,19747747,19749490,19755405,19755407,19760027,19761474,19765779,19780028,19789415,19793996,19796779,19797823,19800062,19820029,19821969,19841046,19846176,19855092,19855250,19864294,19874712,19875582,19876004,19883500,19887569,19888587,19893502,19914667,19915520,19918009,19920090,19929617,19929719,19937225,19948975,19960000,20001961,20011104,20018283,20019451,20019673,20020584,20028977,20032495,20035033,20035337,20038928,20045352,20058257,20059631,20067957,20074551,20074612,20075509,20083470,20112400,20114006,20120899,20129487,20142115,20145925,20146878,20150538,20164291,20166815,20186155,20200332,20201642,20201938,20230294,20237168,20306680,20332107,20350970,20384434,20388053,20395949,20414354,20432444,20466332,20492333,20495294,20516205,20528971,20044088,20056223,20096841,20398901,20424361,20424363,20561616,20633033,20712424 1642458,1642395,2313239,2313230,2313236,1599133,1599139,1599144,1599145,1599146,1599149,1599150,2313234,2313238 9370 AB012165,AC072018,AC112907,AJ131459,AJ131460,AJ131461,AJ131462,AJ131463,CH471052,AK291525,AK312868,AL832470,BC054496,BC096308,BC096309,BC096310,BC096311,D45371,EU420013,NM_004797,NG_021140,NM_001177800,HC474937,GM710009 NP_004788,BAA86716,CAB52413,EAW78165,BAF84214,BAG35720,AAH54496,AAH96308,AAH96309,AAH96310,AAH96311,BAA08227,ABZ10942,Q15848,NP_001171271,CBL63519,CAT82843 Hs.725843,Hs.80485 ACDC|ACRP30|ADIPQTL1|ADPN|APM-1|APM1|GBP28|adiponectin 30 kDa adipocyte complement-related protein|OTTHUMP00000210047|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 protein-coding 1344545 ADIPOR1 adiponectin receptor 1 The adiponectin receptors, ADIPOR1 and ADIPOR2 (MIM 607946), 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] 1331376,1642395,1625761,1625762,1625763,1625764,1625765,1580863 20125105,18988888,12802337,19453261,19233263,19208777,19144434,19120283,19109202,19037660,19010305,18996753,18996102,18982021,18854016,18842004,18827209,18719649,18713296,18660489,18622492,18548168,18466348,18451143,18313838,18310295,18294218,18163210,18097620,17911635,17878241,17716299,17712104,17697862,17459059,17426101,17416799,17285539,17216283,17209173,17123704,17118803,17054465,17006986,17003341,17001470,16955209,16899222,16793963,16724230,16700915,16678125,16622416,16609881,16601138,16505255,16443913,16205883,16139921,16044242,16043761,16023994,15983228,15918014,15757860,15489334,15454091,15331527,15277397,15105989,14702039,14651988,12477932,10810093,9373149,8125298,17207965,20712903,20938443,20952631,20470935,20875820,20696134,19913121,20628086,20682687,20697428,18599322,18923878,19051043,19196212,19524379,19536175,19549705,19631916,19671624,19672024,19723917,19727342,19887569,19909601,19948975,20032495,20059631,20071013,20074551,20120899,20129487,20332107,20432444 1331376,1642395,1625761,1625762,1625763,1625764,1625765 51094 NM_001127687,NM_015999,AC096632,CH471067,AF125179,AF151803,AK001484,AK058114,AK124455,AK222503,AY424279,BC001594,BC010743,BX461217,CR590124,CR593948,CR596346,CR596678,CR597679,CR598544,CR599027,CR599130,CR601546,CR608908,CR609684,CR610443,CR610540,CR619012,CR625005,CR626149,HC299099,HD061930 NP_001121159,NP_057083,EAW91449,EAW91450,AAQ13552,AAD34040,BAG50922,BAD96223,AAR08367,AAH01594,AAH10743,Q96A54,ADQ32734,CBJ06650,CBS99526 Hs.5298 ACDCR1|CGI-45|CGI45|FLJ25385|FLJ42464|PAQR1|TESBP1A OTTHUMP00000038806|adiponectin receptor protein 1|progestin and adipoQ receptor family member I protein-coding 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] 1331376,1642395,2312480,2312486,2312478,2312488,2312495,1625763,1625764,1625765,2312476,2312490 20470935,17207965,20712903,12802337,19631916,19453261,19208777,19120283,19037660,18996753,18996102,18988888,18931038,18923878,18842004,18719649,18713296,18660489,18548168,18466348,18363889,18310295,18294218,18075289,17716299,17697862,17459059,17426101,17416799,17216283,17209173,17123704,17118803,17054465,17006986,17001470,16955209,16899222,16724230,16700915,16678125,16609881,16601138,16505255,16205883,16139921,16044242,15983228,15918014,15757860,15489334,15454091,15331527,15105989,14702039,14651988,12477932,8889548,19913121,20602615,20628086,20682687,19051043,19502591,19549705,19662435,19671624,19723917,19887569,19909601,20032495,20120899,20178558,20308432,20379614,20423458,20875820,20336470,20125105 1331376,1642395,2312480,2312486,2312478,2312488,2312495,1625763,1625764,1625765,2312476,2312490 79602 NM_024551,AC005183,AC005343,CH471116,AK025085,AK127196,AK128511,AY424280,BC004906,BC051858,BM973815,CR591974,CR610048,CR613880,HD061932 ADQ33094,NP_078827,EAW88924,BAB15062,BAC86881,BAC87473,AAR08368,AAH51858,Q86V24,CBS99527 Hs.371642,Hs.708545 ACDCR2|FLJ21432|MGC4640|PAQR2 adiponectin receptor protein 2|progestin and adipoQ receptor family member II protein-coding 737582 ADK adenosine kinase This gene encodes adenosine kinase, an abundant enzyme in mammalian tissues. The enzyme 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. Alternative splicing results in two transcript variants encoding different isoforms. Both isoforms of the enzyme phosphorylate adenosine with identical kinetics and both require Mg2+ for activity. 1580863,1300048,2313341,2313360,1300259 16712791,20698827,9070863,18309031,15489334,12820662,12477932,12112843,11242543,10215863,9843365,8917457,8577746,185014,16385451,18600536,18600545,19635462,20392501,19913121,16344560,20881134 2313341,2313360,1300259 132 NM_006721,NM_001123,AC012046,AC022026,AC022540,AC091699,AF283990,AL357037,AL731576,CH471083,AI608983,AK290633,BC003568,BM472149,BT006788,CB133126,CR597304,U33936,U50196,U90338,U90339,AK301590,AK302706,AI188809,BJ989861,DA356691,NM_001202449,NM_001202450 NP_006712,NP_001114,AAG13958,CAI39671,CAI39672,EAW54555,EAW54556,BAF83322,AAH03568,AAB01689,AAA97893,AAB50234,AAB50235,P55263,Q86U79,Q9HB33,ABM92241,ABW03284,AAP35434,BAH13519,BAH13786,CAH73202,CAH73203,NP_001189378,NP_001189379 Hs.656586 AK adenosine 5'-phosphotransferase|adenosine kinase protein-coding 730917 ADM adrenomedullin Adrenomedullin, a hypotensive peptide found in human pheochromocytoma, consists of 52 amino acids, has 1 intramolecular disulfide bond, and shows a slight homology with the calcitonin gene-related peptide. It may function as a hormone in circulation control because it is found in blood in a considerable concentration. The precursor, called preproadrenomedullin, is 185 amino acids long. By RNA-blot analysis, human adrenomedullin mRNA was found to be highly expressed in several tissues. Genomic ADM DNA consists of 4 exons and 3 introns, with the 5-prime flanking region containing TATA, CAAT, and GC boxes. There are also multiple binding sites for activator protein-2 and a cAMP-regulated enhancer element. [provided by RefSeq] 2313312,2313313,2313311,1625294,1625307,1625319,1625297,1625316,704370,1625296,1625299,1625300,1625301,1625302,1625303,1625304,1625305,1625310,1625312,1625318,1625333,1625298,1625317,1580863,2325317,2325318,2325319,1642599,2325637,2325320 12753312,12720100,12716843,12687457,12684703,12667630,12660258,12646214,12643861,12630824,12630823,12630817,12601625,12579522,12566732,12565880,12534591,12529288,12484513,12477932,12383875,12376296,12375542,12324915,12220731,12193565,12189226,12137974,11972292,11956648,11921363,11921362,11905404,11879669,11774814,11744163,11712085,11571480,11562782,11511315,11502838,11463752,11463574,11387328,11150646,11116141,10956553,10899511,10867102,10855685,10588445,9916958,9768331,12782295,12763641,9620797,9578982,9535752,9357065,9145435,8885746,8774254,8742029,8687431,8387282,8137955,8076689,7745031,7688224,8074714,10822232,11410113,8524787,12379507,19346663,19323987,19306911,19253104,19247278,19210874,19166930,19126117,19010904,19009024,18929609,18708640,18705285,18692535,18657357,18615773,18463805,18403050,18401334,18371176,18081029,18080871,18000597,17952853,17941085,17922433,17766467,17719138,17584073,17388661,17384335,17327422,17307261,17290391,17053041,17022943,16963041,16854513,16821090,16815566,16797107,16622024,16609682,16596251,16517613,16416151,16356592,16322067,16256216,16221100,16154664,16115629,16097366,15976103,15974887,15917349,15908101,15902095,15866060,15789277,15788445,15761041,15758554,15711093,15702240,15684700,15677761,15665526,15544858,15531734,15527794,15489334,15361766,15336545,15300632,15242974,15194870,15192039,15044509,15016771,14759562,14725946,14720432,14715486,14714580,14671210,14612905,14534081,14517225,12969589,12920627,12907107,12903912,12853384,12835224,12805025,19738161,20016189,20216319,18240029,19212702,19564455,19610056,19616043,19623513,19627536,19636336,19706311,19823891,19847298,19932100,20151808,20954838,21075100,19913121,20628086,20713499,20467777,12036966,20534761,20798523 2313312,2313313,2313311,1625294,1625307,1625319,1625297,1625316,704370,1625296,1625299,1625300,1625301,1625302,1625303,1625304,1625305,1625310,1625312,1625318,1625333,1625298,1625317,2325317,2325318,2325319,1642599,2325320 133 AC080023,CH471064,D43639,DQ143945,S73906,AK312893,BC015961,BT006902,CR541995,CR590237,CR594627,CR594757,CR596960,CR599617,CR599806,CR600917,CR602691,CR603338,CR603539,CR606687,CR608713,CR609222,CR611442,CR612290,CR615072,NM_001124,CR615242,CR615314,CR615821,CR619137,CR619174,CR619368,CR620623,CR621314,CR622013,CR622517,CR625658,CR625700,CR626115,D14874,CR615227,HI574294 NP_001115,EAW68571,EAW68572,BAA07756,AAZ38717,AAC60642,BAG35740,AAH15961,AAP35548,CAG46792,BAA03589,P35318,CBX47636 Hs.441047 AM ADM|preproadrenomedullin protein-coding 1348112 ADM2 adrenomedullin 2 ADM2 belongs to a family of calcitonin (MIM 114130)-related peptide hormones important for regulating diverse physiologic functions and the chemical composition of fluids and tissues.[supplied by OMIM] 1303968 18577758,19255504,18829738,18460550,17965749,17346853,17008878,16359754,15461802,14706825,14702039,14615790,14615490,12477932,10591208,18240029,19535789,19592612,19684198,19910445,12036966 1303968 79924 NM_024866,AL096767,AB121034,AB236970,AF529213,AK024788,AK090635,AK092640,BC012864,BM910446,BX400262,CR456479 NP_079142,CAO03464,BAD07411,BAE46395,AAQ09100,BAB15004,CAG30365,Q6IC89,Q7Z4H4,Q9H794,AAI41535,AAI46570,CAK54460,CAK54759 Hs.449099 AM2|FLJ21135|dJ579N16.4 ADM2|OTTHUMP00000196596|intermedin protein-coding 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] 1580863,2312784,2312792,2312791,2312794,2312793,2312783,1358226,2312775 17474147,18029348,17878164,17345061,17081983,15489334,12477932,11780052,11013255,9872452,19923857 2312784,2312792,2312791,2312794,2312793,2312783,1358226,2312775 23394 NM_181442,NM_015339,AL034553,CH471077,AB018327,AF250860,AK074926,AK314734,AL080163,BC015554,BC075794,BC090933 NP_852107,NP_056154,CAB53748,EAW75611,EAW75612,BAA34504,AAG47651,BAG37275,CAB45752,AAH75794,AAH90933,Q6DHZ8,Q9H2P0 Hs.570355 ADNP1|KIAA0784 ADNP homeobox 1|OTTHUMP00000031275|OTTHUMP00000165329|activity-dependent neuroprotective protein|activity-dependent neuroprotector homeobox protein protein-coding 1605090 ADNP2 ADNP homeobox 2 18029348,15489334,14702039,12477932,10048485,20936779 22850 XR_110165,NM_014913,AC090360,AC139100,CH471117,AB020670,AK022688,AK023032,AK292566,BC071589 NP_055728,EAW66646,EAW66647,BAA74886,BAB14180,BAF85255,AAH71589,Q6IQ32,ABZ92222 Hs.131915 KIAA0863|ZNF508 ADNP homeobox protein 2|zinc finger protein 508 protein-coding 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] 17581819,15489334,14702039,12477932,20877624 84890 NM_032804,AL133417,CH471083,AK027453,AK127694,AL049319,BC018660,BC028589,BC067740,CR611168 NP_116193,CAH73826,EAW54235,EAW54236,EAW54237,BAB55123,BAG54551,AAH18660,AAH28589,AAH67740,Q96SZ5 Hs.99821 C10orf22|DKFZp564C046|FLJ14547 2-aminoethanethiol dioxygenase|cysteamine (2-aminoethanethiol) dioxygenase (ADO)|cysteamine dioxygenase protein-coding 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] 2313803,2313805,2313804,2313807,2313808,1625225,1625243,1331525,1625367,1580863,1625229,1625369,1625366,1300260,4890386 20354569,7818494,8360491,8450977,1530647,19207864,19193874,19047957,19019667,19019012,18996102,18680557,18500760,18373090,18281812,18052973,17901362,17728764,17542617,17088462,16709961,16344560,16118787,15489334,15485865,15257174,14997566,14702039,12974671,12920396,12826838,12825092,12812995,12773115,12764156,12477932,12475223,12150791,11934694,11703426,11390975,11369591,11278325,10890919,10521440,10502296,10487528,10455026,9247966,9166747,8889548,8300646,7601478,2825071,2541503,1662665,1551861,1339301,20105183,18240029,19536175,19558453,19574994,19794965,19820430,19822392,19883624,19919976,20085598,20392501,20468064,20599769,18577758,19913121,20602615,20609566,20628086,16481441 2313803,2313805,2313804,2313807,2313808,1625225,1625243,1331525,1625367,1625229,1625369,1625366,1300260 134 X68485,NM_001048230,AC105940,CH471067,AB004662,AK095060,AK127752,AK289928,AK295584,AK308733,AY136746,BC026340,BT019854,BU740906,CR541749,CR612499,DA343445,DB171678,L22214,S45235,S56143,NM_000674,GM047589 AAB25533,CAA48503,P30542,ABM83304,ABM83305,ABM84210,ABM86518,ABM87615,NP_000665,NP_001041695,EAW91465,BAA20433,BAG54566,BAF82617,BAH12115,AAN01272,AAH26340,AAV38657,CAG46549,AAA17544,AAB23388,CAV33768 Hs.77867 RDC7 OTTHUMP00000039091|adenosine receptor A1 protein-coding 730999 ADORA2A adenosine A2a receptor This gene encodes a protein which is one of several receptor subtypes for adenosine. The activity of the encoded protein, a G-protein coupled receptor family member, is mediated by G proteins which activate adenylyl cyclase. The encoded protein is abundant in basal ganglia, vasculature and platelets and it is a major target of caffeine. [provided by RefSeq] 2313805,1331525,1625367,1580863,1300262,1300261,4890366,4890380,4890362,4890358,4890361,4890364,4890386,4890367,4890370,4890383,4890376,4890378,4890363,4890385 12189203,15461802,15461468,15351206,15257174,14715520,14702039,14666117,14525968,12933819,12856413,12837758,12825092,12804599,12784121,12634474,12477932,12429726,12406340,12237741,12080047,11934694,11717194,11532976,11515749,11140838,11125033,10974209,10951119,10391209,10326835,9369973,8670304,8522976,8135838,18331682,20413899,20666933,20045081,16481441,20691427,21088442,12036966,20354569,19386617,19287996,19262506,19159073,19156168,19086053,19019667,19019012,19013155,18996102,18772204,18759349,18629431,18541693,18539621,18524886,18508500,18442791,18434504,18305461,18246094,18218631,18215030,18197085,18057956,17872970,17616786,17599669,17591446,17558310,17512749,17474152,17329997,17257240,17132707,16969271,16917093,16824773,16818375,16361356,16344560,16339780,16280366,16184606,16118787,16027149,16022683,15987888,15774265,15734651,15719154,15704067,15539641,15489334,10899090,16805430,7818494,9262401,10051547,10945659,8360491,16939974,8794889,19591938,19565319,19525944,8088373,8020991,7775460,2541503,1835521,1662665,1438021,1426003,1331670,11571652,16339847,18240029,19303140,19508402,19538256,19541651,19632986,19776336,19794965,19801629,19883624,19902562,19948975,20021407,20029460,20085598,20089670,20197060,20334879,20392501,20396431,20468064,20512606,20520601,19913121,20371613,20628086,20799992,20842321,20926384,21040702 2313805,1331525,1625367,1300262,1300261,4890366,4890380,4890362,4890358,4890361,4890364,4890367,4890370,4890383,4890376,4890378,4890363,4890385 135 HI574256,NM_000675,AP000355,CH471095,U20233,U40771,AK123058,AK289871,AK312946,AY136747,BC013780,BT006999,CR456367,CR611621,DA942067,EU036687,EU036688,EU036689,EU036690,EU036691,EU036692,EU036693,EU036694,M97370,X68486 CBX47617,NP_000666,EAW59658,AAB18370,AAA83270,BAG53866,BAF82560,BAG35787,AAN01273,AAH13780,AAP35645,CAG30253,ABS89237,ABS89238,ABS89239,ABS89240,ABS89241,ABS89242,ABS89243,ABS89244,AAA58356,CAA48504,P29274,Q93003,CAK54365,CAK54664 Hs.197029 ADORA2|RDC8|hA2aR OTTHUMP00000198454|OTTHUMP00000198455|adenosine A2 receptor|adenosine receptor A2a|adenosine receptor subtype A2a protein-coding 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] 1580863 20388705,7558011,10101031,8022409,7836474,19086053,19019667,18703227,18367727,18351132,18215420,18056839,18004767,17565009,17428235,17301835,17077301,16778150,16707627,16631311,16103269,15769552,15637124,15550390,15489334,15187156,12939345,12600879,12477932,12080047,11906291,11579381,11125033,11048721,9914161,7790006,1551861,1325798,18240029,18996102,19794965,19841638,19883624,19948975,20008542,20011598,20029460,20237496,20619442,19913121,20628086,12036966,20926384 136 NM_000676,AC006251,CH471222,DQ351340,AY136748,BC025722,CR592809,CR616920,CR620445,CR621788,M97759,X68487 NP_000667,EAX04484,EAX04485,ABC74564,AAN01274,AAH25722,AAA51598,CAA48505,P29275,Q2L7J7,ABM82640,ABM85817 Hs.167046 ADORA2 adenosine receptor A2b protein-coding 1344356 ADORA2BP adenosine A2b receptor pseudogene 7558011 137 NG_000843,AL022398 ADORA2BP pseudo 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] 1580863,1300263 2834384,19086053,19019667,18996102,18653544,18636149,18351132,17728764,17348028,17216675,17170310,16849509,16710414,16282197,16242072,15849244,15489334,15355922,15240539,15147729,14978250,14688204,12975309,12695530,12600879,12477932,12435805,12406340,12152652,11891221,11214319,11111832,9618527,9293494,8889548,8617363,8234299,7607699,19095736,9380026,9164961,9837869,8399349,19426966,18240029,19794965,19883624,20190146,20237496,20379614,19913121,20602615,20628086,20716228,18577758,20732875 1300263 140 NM_020683,NM_000677,AL390195,AL391063,AY011231,CH471122,L77729,L77730,S81868,AK313095,AY136749,AY358644,BC029831,BC041707,BC064411,BM675096,DB447202,L20463,L22607,X76981,NM_001081976,GM047590 NP_001075445,NP_065734,NP_000668,CAC36045,CAI15626,CAI15631,CAI15632,CAM21993,CAI22964,AAG35155,EAW56502,AAB02790,AAD14378,BAG35919,AAN01275,AAQ89007,AAH29831,AAH41707,AAH64411,AAA16365,AAA35949,CAA54288,P33765,Q5QNZ3,Q5QNZ4,Q6LD47,Q6P2N6,Q9HBK8,ABM83375,ABM86587,CAV33769 Hs.281342 A3AR|AD026|RP11-552M11.7|bA552M11.5 OTTHUMP00000013479|adenosine receptor A3 protein-coding 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] 737633 16713569,16344560,16303743,15489334,14975750,14702039,12477932,11230166,16169070,19309449,19903754,20379614 737633 83440 NR_023319,NM_031284,AC009712,CH471082,CS051413,AF204270,AK055526,AK075560,AK293282,AK294391,AL136873,AL832254,NR_023318,BC006112,BC018074,BC044589,BE018185,CR533447,DA031990,DA208247,DB279245 NP_112574,EAW77914,EAW77915,EAW77916,EAW77917,EAW77918,EAW77919,EAW77920,EAW77921,CAI72201,AAL31473,BAB70941,BAC11699,BAG56809,BAG57646,CAB66807,CAH10598,AAH06112,AAH18074,CAG38478,Q69YR1,Q9BRR6,ACE87141,ACE86460 Hs.725176 2610017G09Rik|ADP-GK|DKFZp434B195 ADP-dependent glucokinase|ATP-dependent glucokinase|rbBP-35 protein-coding 732427 ADPRH ADP-ribosylarginine hydrolase The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes, which require DTT for maximal activity, the human enzyme is DTT-independent. 1580863 8349667,15546898,15489334,12477932,12070318,9193669,19407395,17207965 141 NM_001125,AC073352,CH471052,AK291787,AK313369,BC020574,BC063883,BC074769,L13291,AK304560 NP_001116,EAW79561,EAW79562,EAW79563,BAF84476,BAG36168,AAH63883,AAH74769,AAA35555,P54922,BAG65353,ADQ31983 Hs.99884 ARH1 ADP-ribose-L-arginine cleaving enzyme|OTTHUMP00000215216|OTTHUMP00000215217|OTTHUMP00000215219|[Protein ADP-ribosylarginine] hydrolase protein-coding 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] 15489334,15057823,12477932,12070318,17207965 113622 NM_199162,NM_138430,AL160251,CH471085,AJ313429,BC009755 NP_954631,NP_612439,CAI39433,CAI39434,CAI39435,EAX09208,EAX09209,CAC86114,AAH09755,Q8NDY3,ADQ31850 Hs.98669 ARH2 ADP-ribosyl-hydrolase|ADP-ribosylhydrolase 2|OTTHUMP00000018764|[Protein ADP-ribosylarginine] hydrolase-like protein 1 protein-coding 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. 17075046,17015823,16710414,16511307,16278211,15489334,14702039,12477932,12070318,9373149,8125298,16169070,17991898,18029348 54936 NM_017825,AJ313333,AL138787,CH471059,AF212236,AJ427295,AK000453,AK223037,AK295283,AK316349,BC014169,CR457237,CR593151,CR594747,CR595076,CR600346,CR604004,CR604726,CR607590,CR609775,CR611600,CR613086,CR619091,CR619499,CR621192,CR623438,DC365461 NP_060295,CAC85940,CAC21453,EAX07389,EAX07390,AAK14922,CAD20316,BAA91174,BAD96757,BAG58267,BAH14720,AAH14169,CAG33518,Q9NX46 Hs.18021 ARH3|FLJ20446 ADP-ribosylhydrolase 3|[Protein ADP-ribosylarginine] hydrolase-like protein 2|poly(ADP-ribose) glycohydrolase ARH3|protein ADP-ribosylarginine hydrolase-like protein 2 protein-coding 1353885 ADPRTL4 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 4 20218899,20496165,18701435,10591208,20574454 23783 NG_002623,AP000365 ADPRTL4 pseudo 736081 ADRA1A adrenergic, alpha-1A-, receptor 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] 1559318,1580863,1625780,1625770,1625775 9490024,7737411,10860850,10671514,8396931,8183249,19352218,19322003,19105822,19102884,19095219,19086053,19011682,18996102,18821565,18523139,18413308,18351393,18331634,18257748,17973108,17972277,17681068,17655760,17556657,17408692,17075692,16823803,16690783,16685204,16645408,16633140,16536786,16153395,16043131,15946947,15917235,15824464,15626751,15525470,15474515,15297446,15179408,15136785,14626446,12782672,12707939,12544508,12519093,12477932,12409310,11425010,11154706,10587338,10493934,10334511,9359081,8832064,8564208,8024574,7815325,7805763,1970822,1363873,20129829,12184796,18240029,18524654,19444285,19476811,19520158,19565482,19730237,19763272,19874574,19918262,19919991,20004544,20044737,20068447,20173430,20379614,19913121,20628086,20705341,21063774,16754659 1559318,1625780,1625770,1625775 148 NM_033303,NM_033302,NM_033304,NM_000680,AB065703,AC015564,AC022839,AC091675,AY389505,CH471080,EU326301,U03866,U08994,AF013261,AF395806,AK289548,AY491775,AY491776,AY491777,AY491778,AY491780,AY491781,BC095512,D25235,D32201,D32202,L31774,S76001,U02569 NP_150646,NP_150645,NP_150647,NP_000671,BAC05926,AAQ91331,EAW63569,EAW63570,EAW63571,EAW63572,ACA05899,ACA05901,ACA05903,ACA05905,AAB60353,AAA18783,AAC06138,AAK77197,BAF82237,AAR84644,AAR84645,AAR84646,AAR84647,AAR84649,AAR84650,AAH95512,BAA04960,BAA06900,BAA06901,AAB59486,AAD14205,AAA93114,P35348,Q6LD06,Q7KYZ9 Hs.709175 ADRA1C|ADRA1L1|ALPHA1AAR G protein coupled receptor|adrenergic receptor, alpha 1a|adrenergic, alpha -1A-, receptor|adrenergic, alpha-1A-, receptor variant 1|adrenergic, alpha-1A-, receptor variant 3|adrenergic, alpha-1A-, receptor variant 5|adrenergic, alpha-1A-, receptor variant 8|adrenergic, alpha-1C-, receptor|alpha-1A adrenergic receptor|alpha-1A adrenoceptor|alpha-1A adrenoreceptor|alpha-1C adrenergic receptor|alpha-adrenergic receptor 1c protein-coding 733119 ADRA1B adrenergic, alpha-1B-, receptor 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] 1559318,1580863,1625771,1625772 1328250,2154750,10820200,19334040,19086053,19058789,18523139,18336813,18257748,17973108,17681068,17365508,17220353,16645408,16352594,16297597,15824464,15690361,15525470,15297446,15220331,14736874,14626446,12695539,12644451,12409310,12023679,10652206,9481484,9353340,8617782,8183249,8024574,7815325,1706716,1662393,12184796,12477932,18240029,19910028,19919991,20379614,20468064,18577758,19913121,20628086,16754659,20538960,20816195,21063774 1559318,1625771,1625772 147 NM_000679,AC011343,AC068657,AC127458,CH471062,M99589,M99590,BC136568,BC136569,BQ576306,L31773,U03865,EU332831 NP_000670,EAW61572,AAI36569,AAI36570,AAB59485,AAB60352,P35368,ABY87520 Hs.368632 ADRA1|ALPHA1BAR alpha-1B adrenergic receptor|alpha-1B adrenoceptor|alpha-1B adrenoreceptor|alpha-1B-adrenergic receptor protein-coding 734051 ADRA1D adrenergic, alpha-1D-, receptor 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] 1559318,1580863 10820200,10969806,1656955,10860850,7746284,19458937,19086053,18628404,18257748,18187928,17973108,17681068,17660397,17404580,17384146,16533813,15690361,15525470,15297446,14736874,14626446,12442007,12409310,11780052,8183249,8125015,8039425,8024574,7815325,1359975,12184796,18240029,16754659,19913121,20628086,19212140,21063774 1559318 146 NM_000678,AL121675,AL357040,CH471133,D29952,L31772,M76446,S70782,U03864,EU326302 NP_000669,CAC00601,CAH70478,EAX10455,BAA06222,AAB59487,AAA35496,AAB31163,AAB60351,P25100,ACA05908 Hs.557 ADRA1|ADRA1A|ADRA1R|ALPHA1|DAR|dJ779E11.2 adrenergic, alpha -1D-, receptor|adrenergic, alpha-1A-, receptor|alpha-1A adrenergic receptor|alpha-1D adrenergic receptor|alpha-1D adrenoceptor|alpha-1D adrenoreceptor|alpha-1D-adrenergic receptor|alpha-adrenergic receptor 1a protein-coding 737381 ADRA2A adrenergic, alpha-2A-, receptor 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] 1559309,1331525,1358368,1580863,1625183 16823803,16809338,16806103,16728691,16636200,16605244,16583406,16567612,16531006,16513442,16464220,16389583,16333651,16178932,16172611,15939803,15920038,15824464,15795790,15719258,15719154,15717291,15653687,15592690,15520832,15494033,15489334,15199368,15164054,15138209,15070958,15028622,15006432,12946937,12815749,12707939,12627476,12544508,12529373,12477932,12370125,12080184,12054508,12023679,12019440,11888275,10896916,1354394,9624180,2823383,6259160,19423370,19401164,19388931,19365399,19352218,19309415,19150055,19088492,19086053,19058789,18996102,18842695,18794646,18725220,18600088,18561481,18547701,18511740,18480058,18314873,18200436,18075481,17971028,17894416,17655843,17655760,17612790,17544870,17522710,17512307,17283289,17215105,17159089,17081983,17075692,17034020,16917924,16869226,16854373,10952463,18577758,11886485,11732925,11475011,11467765,11425010,11343863,11248750,11140838,11039642,10948191,10647009,10224112,9235896,8889548,8226727,8098045,8011430,7887906,7876239,2568356,2170371,1849485,1678850,1678390,1385431,1334200,11154706,15782186,10948198,18240029,19439247,19477270,19491387,19506906,19568979,19604092,19833115,19834535,19874574,19876010,19922756,19965390,20044737,20081858,20110357,20135061,20146095,20419449,20468064,20526338,19913121,20532885,20551163,20571754,20602615,20613626,20628086,20692245,20705341,20731965,11313909,20696855,20660048,20538960,20833658,20864182,20952631,21059181,21063237,21070505 1559309,1331525,1358368,1625183 150 NM_000681,NG_012020,AF262016,AF281308,AF316894,AL158163,AY032736,CH471066,DQ149926,DQ285607,EU332846,M18415,M23533,AF284095,BC035047,BC050414,BM682651 NP_000672,AAG00447,AAF91441,AAK01634,CAH72817,AAK51162,EAW49547,AAZ73101,ABB72683,ABY87535,AAA51664,AAA51665,AAK26743,AAH35047,AAH50414,P08913 Hs.249159 ADRA2|ADRA2R|ADRAR|ALPHA2AAR|ZNF32 adrenergic receptor, alpha 2a|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 protein-coding 731080 ADRA2B adrenergic, alpha-2B-, receptor Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. This gene encodes the alpha2B subtype, which was observed to associate with eIF-2B, a guanine nucleotide exchange protein that functions in regulation of translation. A polymorphic variant of the alpha2B subtype, which lacks 3 glutamic acids from a glutamic acid repeat element, was identified to have decreased G protein-coupled receptor kinase-mediated phosphorylation and desensitization; this polymorphic form is also associated with reduced basal metabolic rate in obese subjects and may therefore contribute to the pathogenesis of obesity. This gene contains no introns in either its coding or untranslated sequences. [provided by RefSeq] 1559314,1559315,1559313,2313541,2313542,2313545,2313548,2313543,2313544,1580863,1300265 20424170,2164221,19352218,19056576,18996102,18953403,18854756,18596718,18456256,18054844,17660814,17625217,17620957,17595424,17516297,17410123,17370102,17277585,17039423,16907703,16776624,16645408,16336817,16269962,16247508,16531006,17215105,15920038,15900285,15900214,15893292,15864138,15864122,15815621,15731590,15719258,15592690,15309292,15166301,15037199,14744925,12946937,12917501,12822042,12629104,12535806,12519093,12477932,12401126,11753579,11345359,11140838,11056163,10647009,10404816,10224112,9435676,9235896,3012234,2842764,2173582,2172775,2169434,11154706,2834384,18240029,19477270,19477404,19593211,19728989,19781422,19815603,19826083,19874574,20044737,20051907,20110158,20613626,20651814,20692245,20705341,11313909,20401689 1559314,1559315,1559313,2313541,2313542,2313545,2313548,2313543,2313544,1300265 151 NM_000682,AC092603,AF005900,AF316895,AY548167,CH471207,DQ057076,EU332847,M34041,M38742,AA887330,BC133021,BC136537,BF475329,CV806541 NP_000673,AAX93218,AAB62558,AAK01635,AAS55646,EAW71390,AAY43127,ABY87536,AAA51666,AAA62823,AAI33022,AAI36538,P18089 Hs.247686 ADRA2L1|ADRA2RL1|ADRARL1|ALPHA2BAR ADRA2B adrenergic, alpha-2B-, receptor|G-protein coupled receptor|aadrenergic, alpha-2b-, receptor|adrenergic receptor alpha 2B|alpha-2 adrenergic receptor subtype C2|alpha-2-adrenergic receptor-like 1|alpha-2B adrenergic receptor|alpha-2B adrenoceptor|alpha-2B adrenoreceptor|alpha-2B-adrenergic receptor|alpha-2BAR protein-coding 737142 ADRA2C adrenergic, alpha-2C-, receptor 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] 1300355,1580863 18577758,9371698,10196213,19423370,19352218,19309415,18947427,18835330,18794726,18776959,18702968,18698227,18511740,18487435,18435421,18320080,18308161,18075481,18071056,17971028,17655760,17644575,17496726,17383306,17351367,17223428,17192578,17075692,16636200,16605244,16569551,16464220,16407897,16299019,16187973,15946904,15920038,15861038,15719258,15683753,15592690,15542284,15345481,15319474,12946937,12374873,12210281,11317218,11140838,10945659,10801795,10647009,10224112,9235896,8188260,7688069,2842764,1849485,1349607,11154706,16531006,17215105,20128806,12477932,18240029,19444546,19477270,19477404,19742303,19874574,19880803,20398908,11313909,20613626,20692245,20705341,21041608 1300355 152 NM_000683,AC141928,AF280399,AF280400,AY455666,AY605898,D13538,EU332833,U72648,X72924,BC142625,J03853,NG_012640,CS566010,HI639509 NP_000674,AAY41059,AAG28076,AAG28077,AAR18071,AAT02221,BAA02737,ABY87522,AAC78723,AAI42626,AAA35513,P18825,Q4W594,CAN37604,CBX55893 Hs.123022 ADRA2L2|ADRA2RL2|ADRARL2|ALPHA2CAR adrenergic receptor, alpha 2c|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 protein-coding 731289 ADRB1 adrenergic, beta-1-, receptor 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] 737773,1559319,737774,1331525,1580863,4145102,4140391,4140443 10212248,16316992,19576569,19378229,19301767,19094446,19086053,19073901,19056576,19036891,19033826,19010176,18996102,18947427,18937294,12815745,12724327,12709726,12643891,12544508,12529373,12519093,12455717,12422153,12391161,12374873,12270132,12244098,12197595,12140284,12106601,12090746,12069593,12032746,12029453,12023679,11942593,11854867,11753577,11700307,11526121,11447084,11337934,11140838,11052857,10995758,10862778,10794544,10535961,10477438,9843378,8892658,7583452,6305985,2825170,2536864,2465637,2154750,18936436,18797399,18794726,18776959,18773997,18772317,18754404,18702968,18702937,18679149,18625943,18622236,18615004,18596718,18540901,18534365,18479335,18452871,18429752,18413560,18413308,18403719,18346809,18331634,18323523,18311486,18308161,18298953,18253135,18239290,18219297,18209576,18193079,18158268,18155231,18075464,18059082,17998459,17919552,17893006,17845930,17680533,17667029,17644825,17635183,17591269,17585213,17541557,17512307,17496726,17463065,17383306,17345787,17339538,17335470,17334644,17329986,17270896,17223428,17217681,17118120,17023080,16997396,16946993,16940053,16914520,16907703,16844790,16815314,16785856,16765375,16760361,16728691,16648137,16534528,16500896,16487965,16485781,16421173,16402084,16325708,16315032,16287427,16227135,16210433,16189366,16187973,16153393,16122377,15917856,15864115,15861037,15833937,15824464,15735607,15719258,15685248,15564877,15542284,15479221,15464701,15388645,15358775,15342173,15331590,15312808,15237695,15212839,15212591,15086532,15079793,15055253,14990580,14734649,14553962,14534524,14502278,12921807,12851615,12847069,12844134,12036966,20426789,20643254,20443839,20129829,20414837,20587416,12184796,15452121,15932670,18240029,19037712,19477404,19509284,19515093,19538012,19542315,19553224,19578796,19621046,19623647,19628119,19673943,19743955,19745105,19779464,19842931,19845516,19883298,19956635,20023040,20044737,20079238,20116105,20144152,20185488,20235788,20300048,20352314,20374546,20384459,20459474,20468064,20470286,20537417,20203292,20123316,20581797,20602615,20625396,19913121,20628086,20693591,20705341,20731869,20803192,20821015,20538960,20831043,20948559,20952631,21034538,21044781,21059181 737773,1559319,737774,1331525,4145102,4140391,4140443 153 NM_000684,NG_012187,AF169006,AF169007,AL355543,AY567837,CH471066,EU332832,AF272890,J03019,CS566006,HI639505 NP_000675,AAD53696,AAD53697,CAI16920,AAS66983,EAW49485,ABY87521,AAA51667,P08588,AAI69224,AAI69225,AAI69226,CAN37601,CBX55891 Hs.99913 ADRB1R|B1AR|BETA1AR|RHR adrenergic receptor, beta 1|beta-1 adrenergic receptor|beta-1 adrenoceptor|beta-1 adrenoreceptor protein-coding 733595 ADRB2 adrenergic, beta-2-, receptor, 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] 1559320,1601122,1601126,1601127,1601128,1559319,737773,1598757,1598759,1580863,1598745,1598746,1598754,1331525,1601119,1601124,1601120,1601121,1601125,1601123,1578728,4145081,4145094,4145080,4145095,2325640,4140935,4144900,4145041,4144884,4145093,4145097,4145061,4145098,4145086,4145092,4145099,4145108,4140444,4145082,4145096,4145105,4140391,4144883,4145107,4144899,4140443 18534365,18513389,18498711,18492292,18484422,18479335,18473266,18454446,18440968,18426866,18423577,18413560,18413308,18399855,18393130,18383333,18379861,18362692,18334922,18331634,18316360,18311486,18303970,18267980,18253135,18249219,18247304,18239290,18238958,18219297,18199683,18193079,18159608,18156980,18156033,18086673,18075464,18068431,18065472,18059015,18034461,18024720,17998459,17998016,17996646,17993585,17963627,17962520,17962519,17952055,17925066,17919552,17907319,17893006,17890463,17885618,17883727,15123695,12297500,10734107,9507004,19576569,19527514,19514054,19491387,19479237,19476811,19474452,19450127,19441602,19430548,19424180,19422106,19420105,19378975,19378229,19373110,19367093,19336370,19334040,19326508,19301767,19293197,19284637,19275519,19264973,19263529,19258923,19254291,19247692,19238444,19190821,19186333,19183167,19177262,19176359,19175363,19148102,19131662,19111454,19102885,19088492,19086053,19056576,19056482,19034036,19033440,19029431,19028820,19019335,18996102,18977990,18974840,18940527,18937294,18936436,18931892,18855131,18849614,18841999,18821565,18818748,18801735,18789663,18785519,18772317,18758858,18753860,18719656,18714823,18709160,18702968,18702008,18691971,18691306,18679149,18678875,18667995,18647184,18640383,18636124,18625943,18622265,18615004,18611262,18591903,18579897,18569231,18566454,18558635,18547522,18544533,18540901,16615274,16596417,16585076,16573811,16571957,16569551,16563272,16554384,16551744,16537879,16493638,16467650,16461848,16449022,16448568,16420563,16417856,16412099,16409205,16407241,16395068,16374847,16369120,16369119,16339181,16338281,16322642,16301860,16289313,16286511,16280323,16280290,16251889,16227135,16207148,16205624,16197474,16189366,16188057,16172412,16164442,16153394,16142389,17845212,17824821,17716866,17703412,17700364,17673687,17667029,17664853,17644825,17635908,17621827,17621313,17600229,17595424,17591269,17573413,17569809,17561373,17531924,17512307,17510209,17502834,17493936,17460547,17439327,17428813,17383306,17378367,17374341,17356698,17347382,17345787,17336757,17329986,17303378,17297203,17292646,17270896,17267840,17255556,17243909,17223428,17221209,17210860,17200117,17199132,17198546,17178264,17159089,17150099,17143563,17138565,17132602,17130852,17117186,17099033,17094995,17077128,17075257,17068824,17054017,17036337,17027833,17020471,17003099,16996249,16971769,16955193,16946993,16935688,16931635,16920721,16907703,16899844,16894395,16893516,16875498,16873402,16849635,16785856,16783489,16779985,16772309,16771114,16763224,16754519,16741943,16740612,16728691,16714291,16685203,16683069,16672841,16670773,16651467,16636198,16618831,7797501,7706471,7680566,7608160,3034889,3025863,2837466,2831218,2823249,2564629,2541947,2540197,2471981,2470898,2154750,1848190,1663718,1371121,154,17666399,11882663,12621035,15782186,19783788,20443840,16100145,16054001,16041242,16027735,16027244,16009000,16004558,15994241,15987731,15976384,15959859,15956122,15946904,15939803,15931235,15920038,15917856,15879435,15867853,15861037,15853829,15840289,15833937,15833737,15824464,15817638,15817484,15806595,15797659,15794198,15719258,15703163,15687340,15644445,15638826,15634674,15618708,15596681,15578262,15563584,15557128,15554460,15542284,15520258,15506640,15498794,15493717,15492118,15480095,15480094,15479221,15464701,15388645,15364898,15355441,15342173,15334382,15329337,15323067,15297801,15284533,15282385,15249444,15248848,15245435,15212591,15170877,15166301,15155261,15153795,15147203,15126009,15079793,15069780,15016730,14981808,14981238,14748897,14734649,14715679,14709719,14693408,14678347,14678342,14665698,14657864,14655898,14650112,14615367,14610528,14610472,14573333,14557486,14557466,14553962,14510956,14510910,14500986,13680034,12905693,12900437,12888635,12885990,12869379,12835612,12832031,12824951,12822042,12807170,12740450,12727985,12716862,12682000,12629568,12628991,12605574,12574108,12569260,12563174,12544508,12527744,12519093,12502697,12477932,12474986,12442007,12441217,12439523,12436935,12429837,12428391,12422339,12409304,12394950,12391272,12390345,12361188,12244098,12215468,12167654,12164325,12142724,12142723,12142540,12140284,12111048,12106601,12083963,12082592,12080445,12077726,12075579,12065131,12030897,12023679,12008746,11956670,11942593,11941588,11941312,11921496,11884023,11882399,11879211,11877451,11854867,11836685,11821707,11821698,11809992,11809767,11798846,11798553,11785682,11778498,11775127,11775126,11739457,11735081,11718682,11713125,11713122,11706779,11466580,11441182,11434877,11380082,11371409,11309381,11306963,11288039,11278940,11278447,11258696,11246538,11246467,11238007,11230287,11229437,11214319,11192234,11146000,11039642,11013230,10858453,10753752,10606977,10499588,9924018,9880537,9830057,9819198,9671706,9560162,9399946,9373149,9235896,9228019,8892658,8662852,8557631,8386307,8383511,8125298,7915137,7901205,12083965,11147800,20129829,20193676,20399803,20395454,20544957,12184796,15452121,15896782,15932670,16344560,17170700,18029348,18240029,19422388,19538012,19553224,19555572,19559392,19565482,19578796,19581316,19584355,19623647,19626351,19638684,19665031,19689078,19706446,19706508,19723516,19729601,19730237,19745160,19747908,19779464,19779622,19781422,19832974,19850944,19862939,19874574,19883298,19886995,19887115,19905915,19910613,19927042,19929724,19932356,19933216,19948975,19956569,19956635,20023040,20044476,20044737,20054398,20067119,20068447,20078877,20087642,20135061,20144152,20167428,20173430,20175796,20175803,20201926,20210814,20215008,20230274,20235788,20300048,20308035,20335826,20345371,20352314,20374546,20384434,20395963,20401689,20413987,20416077,20452482,20459474,20467565,20468064,20484896,20503287,20515505,20519311,20519561,20521014,20523301,20525719,20537417,20537997,20546196,20546540,20431605,20203292,12036966,20559325,20686604,19913121,20536507,20565774,20602615,20603037,20628086,20673868,20682155,20705341,20727557,20738880,20739939,20803192,20424170,20119640,20739277,15331590,21183077,20140262,20538960,20703737,20734064,20736788,20816195,20829805,20831043,20885911,20929600,20930716,20981007,21034538,21038778,21044781,21054877,21059181 1559320,1601122,1601126,1601127,1601128,1559319,737773,1598757,1598759,1598745,1598746,1598754,1331525,1601119,1601124,1601120,1601121,1601125,1601123,1578728,4145081,4145094,4145080,4145095,2325640,4140935,4144900,4145041,4144884,4145097,4145061,4145098,4145086,4145092,4145099,4145108,4140444,4145082,4145096,4145105,4140391,4144883,4145107,4144899,4140443 154 NM_000024,AC011354,AF022953,AF022954,AF022955,AF022956,AF169225,AF202305,AF203386,AY011291,CH471062,DQ094845,J02960,Y00106,AK223025,AK313151,AY136741,BC012481,BC063486,BC073856,CR595085,M15169,X04827,AA886615,DA705141,NG_016421,HC295426 NP_000015,AAB82148,AAB82149,AAB82150,AAB82151,AAD48036,AAF17569,AAF20199,AAG35451,EAW61798,AAY88739,AAA88017,CAA68289,BAD96745,BAG35969,AAN01267,AAH12481,AAH63486,AAH73856,AAA88014,AAA88015,CAA28511,P07550,Q9BYZ0,CBJ06537 Hs.2551 ADRB2R|ADRBR|B2AR|BAR|BETA2AR adrenergic receptor, beta 2|beta-2 adrenergic receptor|beta-2 adrenoceptor|beta-2 adrenoreceptor|catecholamine receptor 2289514,2289517 BW456_H,BW455_H protein-coding 737467 ADRB3 adrenergic, beta-3-, receptor 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] 1559325,1559326,1559323,1300267,2313165,2313163,2313161,2313164,2313148,2313149,2313167,737773,1580863,1331525,2313158,2313166 17640319,17631141,17626108,17624182,17616777,17591269,17512307,17476189,17445027,17439327,17378367,17345789,17345787,17342473,17299491,17299381,17270896,17264845,17225053,17190106,17124363,17087055,17046546,16820065,16779985,16715838,16648810,16493638,16449022,16444766,16408483,16369102,16344560,16320158,16301818,16286518,16276029,16054001,16027735,16009000,15959859,15956122,15942638,15939803,15917856,15915764,15833937,15824464,15751274,15743038,15670186,15641247,15613846,15585565,15563584,15543217,15536594,15489932,15489334,15479221,15472194,15464701,15355441,15340101,15334382,15334374,15318095,15302798,15193960,15192823,15179018,15166301,15079793,15061987,15042014,14747257,14742851,14739355,14715679,14713387,14708035,14690019,14671190,14506613,12962933,12917707,12824951,12739037,12739018,12732844,12709137,12690078,12670949,12647276,12629568,12568179,12561621,12544508,12477932,12453902,12442007,12411100,12410955,12406043,12370850,12241539,12169859,12164325,12133431,12082592,12062855,12037740,12008746,11984699,14510956,11949887,11882399,11875710,11872697,11854867,11808891,11798745,11769635,11743057,11743056,11716317,11706779,11699048,11592045,11576322,11573151,11532330,11522702,11466580,11439286,11434877,11380082,11315829,11288809,11287026,11244458,11229427,11213599,11206402,11147800,11095426,11093283,11013230,10999801,10805511,10786926,10391210,9126344,8721782,9892244,15123695,2570461,1718744,19576569,19491387,19479237,19420105,19367093,19295193,19271249,19263529,19193342,19131662,19099777,19080138,19056576,19026982,18996293,18996102,18940396,18936436,18852493,18820136,18753860,18724972,18704193,18636124,18625943,18617734,18611262,18574485,18513389,18510051,18484422,18482921,18441513,18426866,18422027,18393130,18335327,18331634,18311486,18273796,18249219,18249022,18239290,18088254,18054709,17999941,17998022,17989355,17940985,17910280,17852419,17786291,17785925,17727676,8641219,8389717,8389293,8380813,8288218,8011597,7898940,7609752,7609625,7565630,1336117,12036966,15932670,18240029,19553224,19565482,19578796,19587357,19659999,19779464,19842096,20008926,20044737,20078877,20144152,20384434,20401689,20410100,20449541,20459474,20467565,20468064,20503258,20069060,20203292,19913121,20536507,20602615,20628086,20662153,20686326,20705341,20730725,20803423,20831043,21033077,21034552,21085551 1559325,1559326,1559323,1300267,2313165,2313163,2313161,2313164,2313148,2313149,737773,1331525,2313158,2313166 155 NM_000025,NG_011936,AC144573,CH471080,DQ104441,M29932,X70812,X72861,AK293033,AK309919,AK313857,AY487247,BC075017,BQ024407,DA904248,FJ170286,FJ170287,S53291,X70811 NP_000016,EAW63343,EAW63344,AAY88743,AAA35550,CAA50142,CAA50143,CAA51383,BAF85722,BAG36585,AAR37414,AAH75017,ACL14174,ACL14175,AAB24837,CAA50141,P13945 Hs.2549 BETA3AR|FLJ99960 beta-3 adrenergic receptor|beta-3 adrenoceptor|beta-3 adrenoreceptor 2289520,2314765,2314776 BW458_H,GLUCO100_H,GLUCO101_H protein-coding 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] 1580269,737775,1580863,632163,1625784,1625786,1625788,1625789,1625791,737776,1625790,4140391,4140399 17986524,1339451,19400979,19338266,19306925,19257866,18511496,18463167,18451066,18425130,18369319,17998459,17544362,17482545,17276003,17256744,17146290,17102134,17055984,17008309,17006543,17000469,16984558,16920721,16849637,16725308,16605244,16356165,16121194,16081410,16077899,15919661,15870073,15843435,15778405,15653687,15618519,15542600,15489334,15471870,15271984,15097244,14997482,14729942,14654844,14557268,12885252,12750365,12679936,12639913,12624098,12552191,12507501,12486133,12477932,12456365,12435819,12379128,12351722,12163475,12130708,12130691,12123746,12107237,11762794,11517230,11309381,11278469,11042191,11040053,10896954,10884381,10861009,10858453,10852916,10754297,10744734,10727525,10722682,10617630,10574913,10467231,10379886,10091590,10085131,10085129,15051637,9618528,9501202,9446593,8885248,8662816,8195124,7876239,7836371,2037065,9211925,9826657,20807772,20443852,20460384,20443948,15569306,15620700,16094730,19292735,19487588,19620130,19815545,19846537,19906838,20080565,20468064,20627936,20493668,19913121,20628086,20730384,20814022 1580269,737775,632163,1625784,1625786,1625788,1625789,1625791,737776,1625790,4140391,4140399 156 NM_001619,AP001885,CH471076,EU326303,U08435,U08436,U08437,U08438,AB209588,AI888604,AK131506,BC037963,BC090863,CR616194,CR620940,DN989901,M80776,X61157 NP_001610,EAW74581,EAW74582,ACA05909,AAB60689,BAD92825,AAH37963,AAH90863,AAA58391,CAA43470,P25098,Q59F73,ABM82074,ABM85254 Hs.83636 BARK1|BETA-ARK1|FLJ16718|GRK2 G-protein coupled receptor kinase 2|beta-ARK-1|beta-adrenergic receptor kinase 1 protein-coding 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] 1580863,632163 8427589,19400979,19086053,18359007,18274673,18075471,18029348,17621168,17106420,15728711,15498832,15087239,14702039,12808434,12477932,12130708,11762794,11668182,11517230,11060299,10754297,10591208,10085131,9826657,8662816,7695743,1869533,20216086,19766236,20379614,20398908,20468064,19913121,20628086,20734064 632163 157 NM_005160,AL022329,CH471095,AK055687,AK058103,AK123767,AK124922,AK292234,AK310398,BC021221,BC029563,BC036797,BC063545,BX387339,CR617875,X69117 NP_005151,CAB45657,EAW59698,EAW59699,EAW59700,EAW59701,BAF84923,AAH36797,CAA48870,P35626,Q8N433 Hs.657494 BARK2|GRK3 G-protein-coupled receptor kinase 3|beta-ARK-2|beta-adrenergic receptor kinase 2 protein-coding 736707 ADRM1 adhesion regulating molecule 1 The protein encoded by this gene is an integral plasma membrane protein which promotes cell adhesion. The encoded protein is thought to undergo O-linked glycosylation. Expression of this gene has been shown to be induced by gamma interferon in some cancer cells. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 20029029,16990800,11818576,8033103,19148532,18615678,18497817,17139257,17081983,16906146,16815440,16713569,16501559,15819879,15489334,14702039,12477932,11780052,10919708,20634424,20417181,18162577,18497827,18922472,18939944,19615732,19818731,20471946,20137344 11047 NM_007002,NM_175573,AL354836,CH471077,AK054985,AK297567,AK307459,AL558522,BC003059,BC010733,BC017245,BC093021,BR000321,CR591215,CR593414,CR594238,CR600340,CR601588,CR603214,CR604310,CR608688,CR616656,CR616946,CR618998,CR619277,CR619345,CR620862,CR623968,CR624663,CR626787,D64154,CR749213 NP_008933,NP_783163,CAC22308,EAW75375,BAG59959,AAH10733,AAH17245,FAA00246,BAA11023,Q16186,Q68E00,CAH18070,ABM84246,ABM87634 Hs.90107 ARM1|GP110|MGC29536|Rpn13 110 kDa cell membrane glycoprotein|ARM-1|M(r) 110,000 surface antigen|adhesion-regulating molecule 1|hRpn13|proteasomal ubiquitin receptor ADRM1|proteasome regulatory particle non-ATPase 13|regulatory particle non-ATPase 13|rpn13 homolog protein-coding 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] 1580863,1598762,1598766,1598760 8366112,16973378,11428554,18029348,18524658,17188615,15571235,15489334,15471876,15461802,15342556,12833398,12590570,12477932,12368987,12016589,11256614,10958654,10888601,10591208,10090474,9545543,9373149,9266401,9195976,20562859,8404037,8125298,1302001,1574589,19405474,19570815,19615732,20877624 1598762,1598766,1598760 158 NM_001123378,NG_007993,AF106656,AL022238,CH471095,AF067853,AF067854,AK225042,AK291091,AK298187,AK300705,AK308662,BC000253,BC018881,BP298407,CR456368,CR590245,CR594266,CR594779,CR599886,CR603727,CR609122,CR610943,CR613803,CR614973,CR616687,NM_000026,CR616911,CR619354,CR622395,CR623741,S60710,X65867 NP_000017,NP_001116850,AAC83935,CAI18983,CAQ08929,CAQ08930,EAW60375,EAW60376,EAW60377,AAC21560,AAC21561,BAF83780,BAG60458,BAG62384,AAH00253,CAG30254,AAC60603,CAA46696,CAA46697,P30566,Q71UA4,CAK54366,CAK54665,ABM84252,ABM87641 Hs.75527 AMPS|ASASE|ASL adenylosuccinase|adenylosuccinate lyase protein-coding 1321450 ADSS adenylosuccinate synthase Adenylosuccinate synthetase catalyzes the first committed step in the conversion of IMP to AMP [provided by RefSeq] 1580863 18029348,1592113,15786719,2004783,19115993,18721483,18469177,15489334,12477932,8887278,4436310,648524,1574589,20562859 159 NM_001126,AL591594,AL645465,CH471148,X66503,AK025514,AK303886,AK308749,BC012356,BG700800,CR620791,CR626347,BE538442,BI559850 NP_001117,CAI14036,CAI14037,CAI15031,EAW77102,EAW77103,CAA47123,BAG64822,AAH12356,P30520,Q5SY84,ACE87120,ACE86444 Hs.498313 ADEH|MGC20404 AMPSase 2|IMP--aspartate ligase 2|L-type adenylosuccinate synthetase|adSS 2|adenylosuccinate synthetase (Ade(-)H-complementing)|adenylosuccinate synthetase isozyme 2|adenylosuccinate synthetase, acidic isozyme|adenylosuccinate synthetase, liver isozyme protein-coding 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] 15786719,15489334,14702039,12477932,11560929,1574589 122622 NM_152328,NM_199165,AL583722,CH471061,AK095921,AK096124,AK096720,AY037159,BC032039,BC047904,BX248286,CR617087,CR620273 NP_689541,NP_954634,EAW81876,BAC04649,BAG53216,BAG53356,AAK67646,AAH32039,AAH47904,CAD62614,Q8N142 Hs.592327 FLJ38602 AMPSase 1|IMP--aspartate ligase 1|M-type adenylosuccinate synthetase|adSS 1|adenylosuccinate synthetase isozyme 1|adenylosuccinate synthetase, basic isozyme|adenylosuccinate synthetase, muscle isozyme protein-coding 1347850 ADTB1L1 adaptin, beta 1-like 1 10591208 23782 NG_002625,Z83839 ADTB1L1|dJ127L4.2 pseudo 1350660 ADTB1L2 adaptin, beta 1-like 2 10591208 23781 NG_002624,Z83839 ADTB1L2|dJ127L4.3 pseudo 1315812 AEBP1 AE binding protein 1 The adipocyte enhancer binding protein 1 is a transcriptional repressor with carboxypeptidase (CP) activity. This protein binds to a regulatory sequence, adipocyte enhancer 1 (AE-1), located in the proximal promoter region of the adipose P2 (aP2) gene, which encodes the adipocyte fatty-acid binding protein. It is characterized as a member of the regulatory B-like CP family. This protein seems to be activated by a novel mechanism, whereby the direct binding of DNA enhances its protease activity. Adipocyte-enhancer binding protein 1 may play a role in differentiated vascular smooth muscle cells. [provided by RefSeq] 1580863 19179605,16307171,14702039,12690205,12477932,11438679,10510298,9624159,8920928,20419060 165 CR598691,D86479,NM_001129,AC006454,CH236960,CH471128,AB209744,AF053944,AK090931,AK127541,AK296001,BC038588 BAA13094,Q8IUX7,NP_001120,EAL23768,EAW61119,BAD92981,AAC25585,BAG52248,BAC87026,BAG58775,AAH38588 Hs.439463 ACLP|FLJ33612 AE-binding protein 1|adipocyte enhancer binding protein 1|adipocyte enhancer-binding protein 1|aortic carboxypeptidase-like protein protein-coding 1316303 AEBP2 AE binding protein 2 737633 16344560,16189514,15225548,12477932,10329662 737633 121536 NM_153207,NM_001114176,AC091805,CH471094,AA195771,AB209384,AK025788,AK126973,AK131361,AK131410,BC015624,BC022220,CR599308,DB244333 NP_694939,NP_001107648,EAW96398,EAW96399,EAW96400,BAD92621,BAG54413,BAD18513,BAD18557,AAH15624,AAH22220,Q6ZN18,ABZ92093 Hs.126497 MGC17922 AE(adipocyte enhancer)-binding protein 2|AE-binding protein 2|adipocyte enhancer-binding protein 2|zinc finger protein AEBP2 protein-coding 1601976 AEN apoptosis enhancing nuclease 17207965,16171785,18264133,14702039,12477932,20429933 64782 NM_022767,AC013489,CH471101,AB209323,AF318330,AF327352,AK022546,AK022624,AK308119,BC005164,BC014407,BC020988,CA441442 ADQ32293,NP_073604,EAX02009,EAX02010,EAX02011,BAD92560,AAL55837,AAL56012,BAB14091,AAH05164,AAH14407,AAH20988,Q59FY6,Q8WTP8,Q8WYW8 Hs.436102 FLJ12484|FLJ12562|ISG20L1|pp12744 apoptosis-enhancing nuclease|interferon stimulated exonuclease gene 20kDa-like 1|interferon-stimulated 20 kDa exonuclease-like 1 protein-coding 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] 1580863 20676368,11390640,8365415,9809752,18438919,16713569,15057824,15006356,14702039,12477932,12441302,12050133,12030375,11748221,11416139,10748198,10660609,10395201,9887105,8889549,10825294,16169070,17353931,11266540,15489227,16002402,20163360,19460168,20936779 166 NM_001130,NM_198970,AC005944,CH471139,U88832,AF072902,AF269289,AK094591,AK095154,AK314713,BC113735,BC113737,BG696926,BG913049,BM550097,BM908356,CR591354,CR591743,CR594247,CR594475,NM_198969,CR594586,CR595893,CR596634,CR598322,CR599584,CR605502,CR606153,CR608829,CR609469,CR613028,CR616198,CR622685,CR625320,N23852,U04241,X73357,X73358,CR617074 NP_945320,NP_001121,NP_945321,AAC72103,EAW69341,EAW69342,EAW69343,EAW69344,EAW69345,EAW69346,EAW69347,AAD00654,AAC35517,AAG23172,BAG52894,BAG37257,AAI13736,AAI13738,AAA16223,CAA51768,Q08117,Q14CJ1,Q8WY48,ADR82903 Hs.515053 AES-1|AES-2|ESP1|GRG|GRG5|TLE5 amino enhancer of split|amino-terminal enhancer of split|gp130-associated protein GAM protein-coding 1353915 AEZ acrodermatitis enteropathica, zinc-deficiency type 1350331 AF8T AF8 temperature sensitivity complementing 169 1348567 AFA ankyloblepharon filiforme adnatum 170 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] 18029348,17520695,16344560,15345747,15146197,14755689,12477932,12134071,11641786,11607843,10666339,9655255,9619827,7545969 60312 NM_198595,NM_001134647,AC004169,AC097381,AC112254,AC141931,AC144451,CH471131,AB209676,AF188700,AK127962,AK290807,AK297631,AL706541,BC015900,BC032777,BI561136,CA448961,CN308844,CR606819,D25248,DA605903,DB450895 NP_940997,NP_001128119,EAW82360,BAD92913,AAG17055,BAC87209,BAF83496,BAG60004,AAH32777,Q6ZRV0,Q8N556 Hs.529369 AFAP|AFAP-110|FLJ56849 110 kDa actin filament-associated protein|OTTHUMP00000155170|OTTHUMP00000217364|actin filament-associated protein 1|actin filament-associated protein, 110 kDa protein-coding 4107292 AFAP1AS AFAP1 antisense RNA (non-protein coding) 12477932 84740 AC004169,AC112254,BC004397,BC014113,BC043614,NR_026892 Hs.663029 AFAP1-AS|AFAP1AS miscrna 1606158 AFAP1L1 actin filament associated protein 1-like 1 17353931,16344560,14702039,12477932 134265 NM_152406,NM_001146337,AC012613,AC131025,CH471062,AK074185,AK094067,AK095980,BC040723,BC125093,BC125094,BM998635,DA792192 NP_689619,NP_001139809,EAW61787,BAB85011,BAC04277,BAC04664,AAH40723,AAI25094,AAI25095,Q8TED9 Hs.483793 FLJ36748|MGC149773 AFAP1-like protein 1|OTTHUMP00000223958|actin filament-associated protein 1-like 1 protein-coding 1321706 AFAP1L2 actin filament associated protein 1-like 2 17412687,15951569,15489334,15164054,14702039,12477932,11572484,16385451,20125193,20201926 84632 NM_032550,AC005383,AL133384,AL355302,CH471066,AB067501,AF474151,AK123108,AK291712,BC016403,BC024314,BC033212,BC035713,NM_001001936,AK294969,AK295538 NP_001001936,NP_115939,CAI40128,CAI40129,CAI14967,CAI14968,EAW49470,EAW49471,EAW49472,EAW49473,EAW49474,BAB67807,AAQ05765,BAG53870,BAF84401,AAH24314,AAH33212,Q8N4X5,BAH11936,BAH12099 Hs.501106 FLJ14564|KIAA1914|XB130 AFAP1-like protein 2|CTB-1144G6.4|actin filament-associated protein 1-like 2 protein-coding 1352828 AFD1 acrofacial dysostosis 1, Nager type 171 1317426 AFF1 AF4/FMR2 family, member 1 1580863 19956800,7689231,18977325,17889710,17581865,17301807,17130830,16551973,16433901,16386788,16215946,16169901,15302935,15231748,15221006,14990976,14562113,12477932,11930009,11236948,10671636,9880680,9389682,9326653,9233580,8769569,8506309,8443374,8353274,1423625,14603337,15856011,20379614,19913121,20628086,20864672 4299 AC092658,AC093779,AC093827,AJ238093,CH471057,X83606,Z83689,AF024541,AF031404,AF177236,AF177237,AF177238,AF177239,AF492832,AK296243,AK300364,BC017432,BC114930,L13773,L25050,NM_005935,AK296149,DC340279,NM_001166693 P51825,NP_005926,AAY40899,CAB52416,EAX05978,EAX05979,EAX05980,CAA58585,CAB69660,AAC51815,AAC14216,AAD56887,AAD56888,AAF09191,AAF09192,AAM33379,BAG58961,BAG62103,AAH17432,AAI14931,AAA58360,AAA36642,Q05D98,Q13718,Q14C88,Q6LA76,Q712L1,BAG58888,NP_001160165 Hs.480190 AF-4|AF4|AF4-MLL|MGC134969|MLL/AF4|MLLT2|PBM1 AF4/FMR2 family member 1|ALL1-fused gene from chromosome 4 protein|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, drosophila); translocated to, 2|pre-B-cell monocytic leukemia partner 1|protein AF-4|proto-oncogene AF4 protein-coding 1343236 AFF2 AF4/FMR2 family, member 2 1580863 20734064,17474147,8673086,18029348,17196195,15772651,12777533,12477932,11355014,11119302,10964075,10850542,10780779,10737800,10528856,10196698,9467002,9299237,9147647,8824884,8673085,7783162,1301146,19136466,7541938,8023854,8334699,8651274,8900249,9032643,9341861,9475603 2334 NM_002025,AB101711,AB101712,AB101713,AB101714,AB101715,AB101716,AB101717,AB101718,AB101719,AB101720,AB101721,AB101722,AB101723,AB101724,AB101725,AB101726,AB101727,AB101728,AB101729,AB101730,AC002368,AC005731,AC006516,AC015552,AC231841,AF012624,AF139979,CH471171,AB102644,AJ001550,AK301927,AK311467,BC132683,BC143740,BC143744,BI030785,L76569,U48436,X95463,NG_016313,NM_001169122,NM_001169123,NM_001169124,NM_001169125,NM_001170628 NP_002016,BAC80300,BAC80301,BAC80302,BAC80303,BAC80304,BAC80305,BAC80306,BAC80307,BAC80308,BAC80309,BAC80310,BAC80311,BAC80312,BAC80313,BAC80314,BAC80315,BAC80316,BAC80317,BAC80318,BAC80319,AAB71534,AAD45878,EAW61286,EAW61287,EAW61288,EAW61289,BAC81113,CAA04822,BAG63347,AAI32684,AAI43741,AAI43745,AAA99416,AAC82513,CAA64730,P51816,NP_001162593,NP_001162594,NP_001162595,NP_001162596,NP_001164099 Hs.496911 FMR2|FRAXE|MRX2|OX19 AF4/FMR2 family member 2|FMR2P|OTTHUMP00000024206|fragile X E mental retardation syndrome protein|fragile X mental retardation 2 protein|protein FMR-2 protein-coding 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] 1580863 20453842,8555498,19240061,18622426,18616733,17554260,15815621,15704140,15489334,15146197,14702039,12743608,12477932,12203795,8889548,8662235,19359276,20072139,20219786,20379614,20444755,20498205 3899 BC021283,BC036895,BC136579,BC144266,BI906088,BU740375,CN409428,U34360,NM_001025108,AC010736,AC018690,AC073118,AC092667,AC093373,AC114793,AC133108,CH471127,AB209634,AK055117,AK091320,AK092327,AK290468,AK297407,AK308645,NM_002285 AAH36895,AAI36580,AAI44267,AAA98763,P51826,Q8NAP7,NP_002276,NP_001020279,AAY14792,AAY24315,AAY24187,AAY24278,EAX01854,EAX01855,EAX01856,EAX01857,EAX01858,EAX01859,BAD92871,BAC03864,BAF83157,BAH12572 Hs.444414 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 protein-coding 1601873 AFF4 AF4/FMR2 family, member 4 10588740,17389929,17081983,16344560,16189514,15489334,14702039,12477932,12065898,11355014,15856011,17643375,20159561,20379614,20471948,18029348 27125 AK126818,NM_014423,AC010240,CH471062,AA706988,AB209547,AF161355,AF173886,AF197927,AF213987,AK024831,AK055638,AK307407,BC025700,BC063007,BC100287,BC137226,BC144538,BX537585,DA934874,BC040454 NP_055238,EAW62301,EAW62302,EAW62303,EAW62304,EAW62305,BAD92784,AAF28915,AAQ13633,AAF18981,AAM00184,AAH25700,AAH63007,AAI00288,AAI37227,Q7Z2T0,Q8TAX5,Q9UHB7 Hs.519313,Hs.664840 AF5Q31|MCEF|MGC75036 AF4/FMR2 family member 4|ALL1 fused gene from 5q31|ALL1-fused gene from chromosome 5q31 protein|major CDK9 elongation factor-associated protein protein-coding 1345129 AFG3L1 AFG3 ATPase family gene 3-like 1 (S. cerevisiae) 1580863 17101804,16344560,14702039,12477932,11549317,9545647,19578364 172 NR_003228,NR_003226,NR_003227,AC092143,AJ001496,AF329691,AF329692,AF329693,AF329694,AJ001495,AK056488,AK090856,AK091293,AK091727,AK097044,AK126911,AK127143,AK128352,AK128804,AL832984,BC021245,BC045753,BC077734,BM986843,DA707802,DB318727 CAA04793,CAA04792,BAG51729,BAG52327,BAC04933,BAG54393,BAC86848,CAH56313 Hs.534773 AFG3|AFG3L1|FLJ45200 afg3 atpase family gene 3-like 1 (yeast) pseudo 1313183 AFG3L2 AFG3 ATPase family gene 3-like 2 (yeast) 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] 1580863 18769991,19615732,19748354,20208537,10395799,18029348,15489334,12477932,16169070,20354562,20562859,16251216,20725928,20877624 10939 NM_006796,AP001029,AP005264,CH471113,AK129504,BC024282,BC065016,CR597170,Y18314,BU786821,BX091241,DN993083,NG_023361 NP_006787,EAX01551,EAX01552,AAH24282,AAH65016,CAB48398,Q8TA92,Q9Y4W6 Hs.726355 FLJ25993|SCA28 AFG3 (ATPase family gene 3, yeast)-like 2|AFG3-like protein 2|ATPase family gene 3, yeast|ATPase family gene 3-like 2|paraplegin-like protein|spinocerebellar ataxia 28 protein-coding 3457950 AFG3L2P1 AFG3 ATPase family gene 3-like 2 (S. cerevisiae) pseudogene 1 347028 AC022616,NG_016585 AFG3L2P pseudo 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] 1580863 7517938,19046407,16740002,16335952,16199891,15952736,15489334,14760718,12477932,12463752,12063119,10400926,8755513,8648639,7875606,7035619,4041902,37276,19336561,20858448 173 NM_001133,AC108157,AC110752,CH471057,U51243,AK290556,BC109020,BC109021,L35486,L35497,L35498 NP_001124,AAY41051,EAX05682,AAC50720,BAF83245,AAI09021,AAI09022,AAA68197,AAA68198,AAA68199,P43652,Q4W5C5 Hs.168718 ALB2|ALBA|ALF|MGC125338|MGC125339 afamin|alpha-Alb|alpha-albumin protein-coding 1606470 AFMID arylformamidase 14704851,12477932,21048031 125061 NR_027083,NM_001010982,NM_001145526,AC087645,CH471099,BC020920,BC132824,BC142973,BX647783,BX648442,CR611538 NP_001010982,NP_001138998,EAW89509,EAW89510,AAI32825,AAI42974,CAH56149,Q63HM1,ACE87637,ACE86948,ADR82911 Hs.558614 DKFZp686F03259|KF|MGC167063 kynurenine formamidase|probable arylformamidase protein-coding 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] 2292039,2292042,2292040,2292037,2292041,2292038,1300268,1580863 20363333,20495646,20149523,19383238,19362088,19343004,19241193,19225928,19206006,19160651,19038010,19003875,18802946,18657899,18609108,18577995,18563566,18551609,18485897,18479159,18466288,18354237,18422961,18316609,18407604,18194454,17852813,17535089,17465484,17433605,17275497,17237442,17197899,17188819,17175354,17175353,16892178,16882993,16869888,16627685,16203738,15993394,15906357,15849812,15489334,15305374,15280901,15265907,15040024,15028291,15001643,14714299,14622304,12835590,12804197,12615827,12503217,12499776,12477932,12361680,12176010,12167706,12006569,11861398,11788893,11764100,9891062,7684942,7532927,7524678,7519015,6193792,6192711,6192439,6187626,6085063,4138095,2580830,2474300,2445387,2436661,2414772,1709810,1703124,1371512,89900,80265,71198,70228,16169070,17626741,18184471,19093203,19184104,19197197,19426602,19437037,19457604,19494365,19501957,19574883,19615732,19785658,19968979,20070666,20101856,20414942,20796153,20740583,20532728 2292039,2292042,2292040,2292037,2292041,2292038,1300268 174 NM_001134,AC108157,CH471057,M10949,M10950,M16110,Z19532,AK297669,AK297674,AK314817,BC027881,CR602918,CR603328,CR608054,CR608871,CR610573,CR616557,CR618771,CR621004,CR625428,CR625429,V01514,NG_023028 NP_001125,EAX05681,AAA51674,AAA51675,AAB58754,CAA79592,BAG60031,BAG60036,BAG37340,AAH27881,CAA24758,P02771,ABM81868,ABM85029 Hs.518808 FETA|HPAFP OTTHUMP00000220440|alpha-1-fetoprotein|alpha-fetoglobulin|alpha-fetoprotein protein-coding 1606558 AFTPH aftiphilin 15758025,18815278,16964243,15811338,15489334,15302935,14702039,18029348,12477932,9373149,8889548,8125298,16344560,14665628 54812 AA583062,DA227019,DA815479,NM_203437,NM_017657,NM_001002243,AC008074,CH471053,AB073356,AK000087,AK021899,AK024658,AK222821,AL833962,AY367088,BC022247,BC047529,BM668634,BX504505 NP_982261,NP_060127,NP_001002243,EAW99937,EAW99938,EAW99939,EAW99940,EAW99941,BAE45715,BAA90936,BAB13930,BAB14949,BAD96541,CAE46209,AAR14726,AAH22247,AAH47529,Q3LIF3,Q53GW0,Q6ULP2,Q9HBR8 Hs.655167 FLJ20080|FLJ23793|MGC33965|Nbla10388 OTTHUMP00000159936|OTTHUMP00000202186|aftiphilin|aftiphilin protein|putative protein product of Nbla10388 protein-coding 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. [provided by RefSeq] 1580863,1598773 1703489,2775174,2401370,19100247,18992224,16435229,15815621,15489334,15365992,14616088,12477932,11309371,10444340,9737998,9362483,9137882,8846222,8830180,8776587,8702913,8457202,8405810,8002961,7852406,7685790,6883788,2265705,2039475,2011603,1904874,1864600,1840528,1765378,1733831,1530592,1301945,1281977,15174051,16344560,8889548,18029348 1598773 175 NM_000027,NG_011845,AC027627,AC078881,CH471056,S83096,U21273,U21274,U21275,U21276,U21277,U21278,U21279,U21280,U21281,X61959,AK303370,AK312982,BC012392,CR541715,CR592694,CR599662,CR607548,M60808,M60809,M64073,M64075,M64076,X55762,X73071,AA490958,AW467768,BM968469,CX869892,DA346002,DA905583,NM_001171988,NR_033655 NP_000018,AAY40915,EAX04712,EAX04713,EAX04714,EAX04715,AAD14424,AAB60655,CAA43958,BAG64427,BAG35819,AAH12392,CAG46516,AAA35901,AAA35902,AAA35903,AAA35904,AAA35905,CAA39288,CAA51529,P20933,Q6LD43,ABM82279,ABM85460,NP_001165459 Hs.207776 AGU|ASRG|GA N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase|N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase|aspartylglucosylamine deaspartylase|glycosylasparaginase protein-coding 1319477 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 CENTG2 belongs to an ADP-ribosylation factor GTPase-activating (ARF-GAP) protein family involved in membrane traffic and actin cytoskeleton dynamics (Nie et al., 2002 [PubMed 12388557]).[supplied by OMIM] 1580863 16341674,18003747,16079295,15892143,15381706,14702039,12967569,12640130,12477932,12388557,10470851 116987 NM_014914,NM_001037131,AC012305,AC019047,AC064874,AC073989,AC079400,CH471063,AB029022,AF413078,AK001722,AK295520,AK300763,AY033765,BC060814,BC140856,BC167153,BC167157,BI868924,BM752978,CB961699 NP_055729,NP_001032208,AAX88857,AAX88852,AAY24137,AAY14697,EAW71078,EAW71079,BAA83051,AAL04172,BAA91862,BAG58435,BAG62428,AAK56506,AAH60814,AAI40857,AAI67153,AAI67157,Q4ZG22,Q4ZG54,Q53RW1,Q53S93,Q9UPQ3 Hs.435039 CENTG2|GGAP1|KIAA1099|MGC71657 AGAP-1|Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1|GTP-binding and GTPase-activating protein 1|OTTHUMP00000203179|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1|centaurin, gamma 2|centaurin-gamma-2|cnt-g2 protein-coding 1349982 AGAP10 ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 728127 XM_001714786,AL391137 XP_001714838,CAI12206,Q5T2P9 CTGLF7|bA144G6.2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 10|OTTHUMP00000019523|centaurin, gamma-like family, member 7 protein-coding 2301267 AGAP11 ankyrin repeat and GTPase domain Arf GTPase activating protein 11 14702039,12477932,11853319 119385 NM_133447,AL136982,CH471142,AB075855,AK097165,BC062776,BC140762 NP_597704,EAW80307,EAW80308,EAW80310,EAW80311,BAB85561,AAH62776,AAI40763,Q6P5Q0,Q8TF27 Hs.511787 KIAA1975 AGAP-11|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11 protein-coding 1349110 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 1580863 19318351,19176382,18487454,18469807,18374643,18371979,17461797,17297440,17151107,17037982,16841086,16263930,16150119,16079295,15951849,15489334,15118108,14761976,14702039,14528310,12640130,12477932,12388557,11823862,9192850,8724849,17891137,18029348,11136977,20551179 116986 NM_014770,NM_001122772,AC025165,CH471054,U81031,AF384128,AF413077,AK122827,AK292672,AY128689,BC028020,CR625050,D79989 NP_055585,NP_001116244,EAW97048,EAW97049,EAW97050,EAW97051,AAC39522,AAO39848,AAL04171,BAG53747,BAF85361,AAM97540,AAH28020,BAA11484,Q99490 Hs.302435,Hs.632854 CENTG1|FLJ16430|GGAP2|KIAA0167|PIKE AGAP-2|Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 2|GTP-binding and GTPase activating protein 2|GTP-binding and GTPase-activating protein 2|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2|centaurin, gamma 1|centaurin-gamma-1|cnt-g1|phosphatidylinositol-3-kinase enhancer|phosphoinositide 3-kinase enhancer protein-coding 1321839 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 1580863 16964243,16461359,15381706,14702039,14506264,12690205,12640130,12477932 116988 NM_001042535,NM_031946,AACC02000108,AC010973,CH471173,AB209781,AF359283,AF413079,AK027415,AK055393,AK091771,AK096352,AL442089,BC020426,BC037543,BC044644,BC048300,BC069236,BU615528,CR624366 NP_001036000,NP_114152,EAL24502,EAW54024,EAW54025,EAW54026,EAW54027,EAW54028,EAW54029,BAD93018,AAK48932,AAL04173,BAB55097,BAG51510,BAC04766,CAC09448,AAH44644,AAH48300,Q6ZNF7,Q86ST5,Q86XV5,Q8N8Q2,Q96P47,Q96T14,Q9H3X2,ACE87128,ACE86452 Hs.647075 CENTG3|CRAG|FLJ16146|FLJ34452|MRIP-1 AGAP-3|CRAM-associated GTPase|CRMP (collapsin response mediator protein) associated|MR1-interacting protein|OTTHUMP00000213334|OTTHUMP00000213335|OTTHUMP00000213336|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3|centaurin, gamma 3|centaurin-gamma-3|cnt-g3 protein-coding 1344826 AGAP4 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 737633 20139978,12477932 737633 119016 NM_133446,AC012044,CH471160,AF411132,BC048341,BC062366 NP_597703,EAW86657,EAW86658,EAW86659,EAW86660,EAW86661,EAW86662,EAW86663,EAW86664,AAL10290,AAH48341,Q86XV2,Q96P64 Hs.656384 CTGLF1|MRIP2 AGAP-4|ARF GTPase-activating protein|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4|centaurin, gamma-like family, member 1|centaurin-gamma-like family member 1 protein-coding 1348213 AGAP5 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 12477932 729092 NM_001144000,AC022400,AC073389 NP_001137472,A6NIR3 Hs.651147 CTGLF2 AGAP-5|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 1349976 AGAP6 ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 12477932 414189 NM_001077665,AL442003,BC131545 NP_001071133,CAH72489,Q5VW22 Hs.620085 CTGLF3|bA324H6.1 AGAP-6|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 1353426 AGAP7 ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 653268 NM_001077685,AL589822 NP_001071153,CAH70062,Q5VUJ5 Hs.528346 CTGLF4|bA109G10.1 AGAP-7|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7|centaurin, gamma-like family, member 4|centaurin-gamma-like family member 4 protein-coding 1344869 AGAP8 ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 12477932 728404 NM_001077686,AL672187,BC051717 NP_001071154,CAI16094,Q5SRD3 Hs.536192 CTGLF5 AGAP-8|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 1348214 AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 14702039,12477932 642517 AL591684,AK160375,BC020871,BC032492,BC171845,BC171847,NM_001190810 CAH72201,BAD18718,Q5VTM2,Q6ZMK7,NP_001177739 Hs.645346,Hs.655950 AGAP-9|CTGLF6|FLJ00312|bA301J7.2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9|OTTHUMP00000019531|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9|centaurin, gamma-like family, member 6|centaurin-gamma-like family member 6 protein-coding 1345768 AGBL1 ATP/GTP binding protein-like 1 18347602,16543943,16344560,14702039,12477932,20379614 123624 NM_152336,AC012229,AC016180,AC016987,AC018950,AC022817,AC025842,AC069197,AC078905,AC107978,CH471101,AK056872,BC128152,DA695799,DV080155,DV080218,DV080486,DV080541,DY655391,DY655510 NP_689549,EAX01983,EAX01984,BAB71299,AAI28153,Q96MI9 Hs.679833 FLJ32310|MGC149239 ATP/GTP-binding protein-like 1|OTTHUMP00000195714|cytosolic carboxypeptidase 4 protein-coding 1602682 AGBL2 ATP/GTP binding protein-like 2 20308539,15489334,14702039,12738998,12477932,9373149,8125298,18029348 79841 NM_024783,AC021443,CH471064,AK027251,AK056687,AK223171,AK223176,AK303066,AK303875,BC028200,BC036234 NP_079059,EAW67889,EAW67890,EAW67891,BAB15707,BAD96891,BAD96896,BAG64183,BAG64813,AAH28200,AAH36234,Q5U5Z8 Hs.147377 FLJ23598 ATP/GTP-binding protein-like 2|cytosolic carboxypeptidase 2 protein-coding 1604170 AGBL3 ATP/GTP binding protein-like 3 15489334,14702039,12853948,12477932,17244817,20379614 340351 NM_178563,AC083862,AC083870,AC090497,CH236950,CH471070,AA707617,AK021841,AK023045,AK302827,AL832281,BC030651 NP_848658,EAW83838,BAB14371,BAH13813,AAH30651,Q8NEM8,EAW83837 Hs.648616 FLJ12983|MGC32955 ATP/GTP-binding protein-like 3|cytosolic carboxypeptidase 3 protein-coding 1606202 AGBL4 ATP/GTP binding protein-like 4 19240061,16710414,14702039,12477932,20379614 84871 AC097062,AC099788,AL355809,AL390023,AL391844,AL590432,AL591602,AL645507,AL645730,CH471059,AF075049,AK027348,AK094826,AK294394,AK294633,AK296221,BC035739,BC126383,NM_032785,BC144171,AC092264,AC105766,AL031294,AL356789,AL356916,AL445527 NP_116174,CAI22166,CAI22167,CAI23365,CAI23366,CAI23367,CAI13520,CAI13521,CAH70510,CAH70511,CAH70512,CAI19137,CAI19138,CAI19139,CAI14371,CAI14372,CAI17069,CAI17070,CAI17071,EAX06847,BAB55053,BAG52938,BAG57648,BAG57812,BAG58944,AAI26384,A0AVJ2,Q5VU57,Q96K85 Hs.551844,Hs.679809 CCP6|FLJ14442 ATP/GTP-binding protein-like 4|OTTHUMP00000009460|OTTHUMP00000009778|cytosolic carboxypeptidase 6 protein-coding 1605057 AGBL5 ATP/GTP binding protein-like 5 16344560,14702039,12477932,11256614,16712791,19913121,20628086 60509 NM_021831,NM_001035507,AC013403,AC013472,CH471053,AI990522,AK023398,AK025492,AL833844,BC007415,BC018562,BC018584,BC062326,CB155754,CR592951,CR596269,CR599448,CR603688,CR625656,DA901318,AK302091 NP_068603,NP_001030584,AAX93164,AAY14655,EAX00649,EAX00650,EAX00651,EAX00652,EAX00653,BAB14560,BAB15151,CAD38704,AAH07415,Q8NDL9,BAH13623 Hs.138207 FLJ21839 ATP/GTP-binding protein-like 5|cytosolic carboxypeptidase-like protein 5 protein-coding 737312 AGER advanced glycosylation end product-specific receptor This gene encodes a member of the immunoglobulin superfamily of cell surface molecules. It is a receptor for various molecules, including the amyloidogenic form of serum amyloid A, amyloid-beta protein, members of the S100/calgranulin superfamily and advanced glycation end products. The gene lies within the major histocompatibility complex (MHC) class III region on chromosome 6. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1566451,1625335,1625342,1625346,1625338,1625343,1625348,1625333,1625341,1331525,1300365,1625339,1300270,1580863,2325651,2325657,2325643,2325645,2325647,2325653 20684319,19587357,19501570,19448391,19440065,19380826,19380603,19332646,19285601,19284577,19277685,19275767,19252206,19217891,19217461,19204726,19183936,19167759,19143821,19143681,19103440,19071026,19061941,19032093,19005067,18987644,18977241,18952609,18948101,18926539,18922799,18854308,18825489,18796298,18789567,18777492,18775683,18701333,18698218,18689872,18667420,18660489,18657529,18645306,18615900,18606705,18603587,18595673,18593464,18576917,18575614,18550199,18519797,18480271,18477569,18458846,18438937,18431028,18427074,18421017,18355449,18339893,18322992,18302220,18279705,18279703,18256374,18245812,18231794,18179750,18089847,18080716,18079965,18079485,18078623,18058469,18050248,18046662,18032526,17924846,17714874,17700210,17661837,17660747,17640970,17639302,17613396,17601350,17593216,14580673,14574404,14571699,14501001,12941744,12935895,12909002,12859967,12837757,12671312,12651613,12618340,12606536,12598893,12579287,12495433,12477932,12477623,12475402,12070776,12029499,11961018,11884895,11811511,11739380,17592553,11700025,11375354,16061848,17474147,1378843,10835680,10399917,17560613,17549666,17536039,17512509,17508727,17497647,17434489,17425804,17405935,17355942,17345061,17343760,17237617,17224333,17218539,17172923,17170388,17158877,17035340,17024691,17004092,16969649,16969646,16954682,16954185,16899960,16847147,16728681,16644647,16493495,16440015,16374460,16286548,16271939,16166741,16159602,16127291,16052547,16037279,15986224,15944249,15942086,15942078,15930093,15926115,15915542,15911356,15896660,15893388,15803111,15798956,15790669,15666359,15663911,15599399,15555779,15547674,15539404,15489334,15448098,15289604,15247020,15239215,15213278,15203887,15180953,15170618,15155381,15127201,15053925,15052533,15033494,15019601,15009731,14747204,17588956,14704946,14656967,14617629,14595542,20028692,20578941,20630999,20372816,20410680,19088375,19201044,20215707,11007787,10521570,9812979,9734395,9195959,8787669,8751438,7887450,7835890,7713518,20414834,20504772,20507991,20512925,19376511,10391939,16716307,19129693,19133252,19386136,19439163,19451748,19530996,19542745,19571577,19576587,19578796,19591173,19616266,19635564,19659809,19672558,19679874,19766904,19786934,19815443,19820033,19822091,19851445,19876719,19890027,19906677,19909734,19910580,19944695,19945761,19948975,19998499,20010834,20010835,20028726,20031245,20040351,20051912,20112183,20171262,20185929,20353610,20398646,19405075,21067489,20541603,20627100,21086782,19913121,20359471,20485444,20522598,20567859,20568058,20628086,20726326,20739563,20928981,20492604,20943659,20537326,20074734,10531386 1566451,1625335,1625342,1625346,1625338,1625343,1625348,1625333,1625341,1331525,1300365,1625339,1300270,2325651,2325657,2325643,2325645,2325647,2325653 177 NM_001136,NM_172197,AF001095,AF065211,AF065212,AF208289,AJ238896,AL662830,AL662884,AL845464,BX284686,BX927239,CH471081,CR812478,CR933878,CS300822,D28769,U89336,AB036432,AB061668,AB061669,AF536236,AF536237,AF537303,AJ133822,EU826618,EU826619,EU826620,FJ545655,M91211,AK298100,AK313178,AY755619,AY755620,AY755621,AY755622,AY755623,AY755624,AY755625,AY755626,AY755627,AY755628,BC020669,DQ104251,DQ104252,DQ104253,DQ104254,EU117141,EU428811,EU428812,EU428813,EU428814,EU428815,EU428816,EU826616,EU826617 NP_001127,NP_751947,AAD15888,AAD15889,AAG35728,CAB43094,CAI17535,CAI17536,CAI18354,CAI18355,CAI41809,CAI41810,CAI41811,CAM26223,CAM26224,CAM26225,CAQ06595,CAQ06596,CAQ06597,EAX03610,EAX03611,CAK32486,BAA05958,AAB47491,BAA89369,BAC65465,BAC65466,AAQ10685,AAQ10686,AAQ10782,CAB43108,ACF47654,ACF47655,ACF47656,ACL80027,AAA03574,O95795,Q101R2,Q101R3,Q101R5,Q15109,Q3L1R2,Q3L1R3,Q3L1R4,Q3L1R5,Q3L1R6,Q3L1R7,Q3L1R8,Q3L1S0,Q5JP26,Q5SSZ2,Q5SSZ3,Q71BB6,Q71BG7,Q71UQ2,Q86SN1,Q9UQR5,ABM84501,ABM87820,BAG60385,BAG35995,AAX07272,AAX07273,AAX07274,AAX07275,AAX07276,AAX07277,AAX07278,AAX07279,AAX07280,AAX07281,AAH20669,AAZ32412,AAZ32413,AAZ32414,AAZ32415,ABV03807,ACE78167,ACE78168,ACE78169,ACE78170,ACF47652,ACF47653 Hs.534342 MGC22357|RAGE OTTHUMP00000174885|advanced glycosylation end product-specific receptor|receptor for advanced glycosylation end products|receptor for advanced glycosylation end-products protein-coding 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] 1580863 20936779,7634337,11545741,7637788,18819912,18775314,17081983,16903783,15815621,15749819,15489334,14702039,14701878,14554087,12477932,12429849,10737800,10613896,10358091,9500467,9368759,9303539,9070945,8943370,8805303,8633082,16354571,11854271,18029348,19262425 3267 NM_004504,NM_001135187,NM_001135188,NM_001135189,AC097662,AC105286,CH471063,L42025,AA676544,AI742626,AI955214,AK097451,AK295030,BC030592,BC039332,BC045581,BC096272,BC096273,BC096274,BC096275,BE843894,BM474292,BQ016135,BX648387,CB990608,CR607049,CR622898,DB456989,X89478 NP_004495,NP_001128659,NP_001128660,NP_001128661,AAY24254,AAX93270,EAW70871,EAW70872,AAC37580,BAG53473,BAG58086,AAH30592,AAH96272,AAH96273,AAH96274,AAH96275,CAA61667,P52594 Hs.352962 DKFZp686I15205|HRB|MGC116938|MGC116940|RAB|RIP HIV-1 Rev binding protein|HIV-1 Rev-binding protein|OTTHUMP00000204060|OTTHUMP00000204061|OTTHUMP00000204062|Rab, Rev/Rex activation domain-binding protein|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 protein-coding 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. The 3' UTR of this gene contains an insulin receptor substrate 3-like pseudogene. [provided by RefSeq] 1580863 15489334,14702039,12690205,12477932,10613896,9799793,9303539,8889548,7568168 3268 BU608908,CR597239,CR611659,CR626460,AC069281,AF053356,CH236956,CH471091,AF015042,AK057758,AK090744,AK314954,BC009393,BC017329,BC047227,BF314987,NM_006076 NP_006067,O95081,AAC78803,EAL23829,EAW76522,EAW76523,EAW76524,EAW76525,AAD01550,BAG37459,AAH09393,AAH17329 Hs.521083 HRBL|RABR HIV-1 Rev binding protein-like|HIV-1 Rev-binding protein-like protein|Rev/Rex activation domain binding protein-related|arf-GAP domain and FG repeats-containing protein 2|nucleoporin|rev/Rex activation domain-binding protein related protein-coding 1350142 AGGF1 angiogenic factor with G patch and FHA domains 1 The AGGF1 gene encodes a potent angiogenic factor that contains a forkhead-associated domain and a G-patch domain (Tian et al., 2004 [PubMed 14961121]).[supplied by OMIM] 737633 14961121,15486042,15905966,18564129,17103452,16911369,16443853,16189514,15489334,14702039,12477932,10737800,19556247,19615732 737633 55109 NM_018046,AC008581,AY500996,CH471084,AK001145,AK097255,AK289394,AW500409,AW958325,AY500994,BC002828,BC015478,BC029382,BC032844,BC073864,BE077189,BI561566,BM998072,BX648120,CF994178,U84971,NG_027822,AI453097,DR157679 NP_060516,AAR97617,EAW95787,EAW95788,EAW95789,BAA91519,BAF82083,AAR97615,AAH02828,AAH15478,AAH29382,AAH32844,AAB60856,Q6PIK7,Q8N302 Hs.634849 FLJ10283|GPATC7|GPATCH7|HSU84971|HUS84971|VG5Q|hVG5Q G patch domain-containing protein 7|angiogenic factor VG5Q|angiogenic factor with G patch and FHA domains 1|vasculogenesis gene on 5q protein protein-coding 3398757 AGGF1P1 angiogenic factor with G patch and FHA domains 1 pseudogene 1 100132380 AF146191,NG_022094,U85056 pseudo 3476565 AGGF1P2 angiogenic factor with G patch and FHA domains 1 pseudogene 2 644435 AL731696,NG_005569 pseudo 2881504 AGGF1P3 angiogenic factor with G patch and FHA domains 1 pseudogene 3 391552 AC108724,NG_022208 pseudo 3302159 AGGF1P4 angiogenic factor with G patch and FHA domains 1 pseudogene 4 100129351 AC007353,NG_022503 pseudo 1352363 AGK acylglycerol kinase 20877624,18004883,17135245,16344560,16269826,15939762,15489334,15252046,14702039,12853948,12690205,12477932,9373149,8125298,16169070,19549252 55750 NM_018238,AC004918,AC073878,AC099547,CH236950,CH471070,AJ278150,AK001704,AK222769,AK299131,AK304502,BC009775,BC022777,CR603206,CR625177,DB032353 NP_060708,AAS07537,AAS07538,EAL24020,EAW83972,EAW83973,CAB93536,BAA91848,BAD96489,BAG61184,BAG65310,AAH09775,AAH22777,Q53H12,Q75KN0 FLJ10842|MULK OTTHUMP00000212224|OTTHUMP00000212226|acylglycerol kinase, mitochondrial|hAGK|hsMuLK|multi-substrate lipid kinase|multiple substrate lipid kinase protein-coding 2794508 AGKP1 acylglycerol kinase pseudogene 1 12815422,9847074 359793 AC010979,NG_002810 AGKY1 pseudo 1314958 AGL amylo-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] 1566516,1642741,1642743,2304191,1331525,1598779,1598784,1601129 18029348,20800603,20562859,20648714,9691087,1374391,18924225,17915576,17908927,17047887,15886229,15489334,14718574,12477932,11924557,11378828,10982190,10925384,10571954,9490286,9412782,9332391,8990006,8954797,8755644,8702417,2295969,1505983,933239,15833157,19299494,19754354,19834502,20158661,20379614 1566516,1642741,1642743,2304191,1331525,1598779,1598784,1601129 178 NM_000028,NM_000643,NM_000644,NM_000646,NM_000645,AB035443,AC096949,CH471097,AB208867,AK130308,BC020705,BC057220,NM_000642,BC078663,C00487,M85168,U84007,U84008,U84009,U84010,U84011,NG_012865 NP_000633,NP_000019,NP_000634,NP_000635,NP_000637,NP_000636,BAA88405,EAW72980,EAW72981,EAW72982,EAW72983,EAW72984,EAW72985,EAW72986,EAW72987,BAD92104,AAH78663,AAB41040,AAB48466,AAB48467,AAB48468,AAB48469,AAB48470,P35573 Hs.904 GDE OTTHUMP00000012504|amylo-1, 6-glucosidase, 4-alpha-glucanotransferase|glycogen debrancher|glycogen debranching enzyme protein-coding 1318183 AGMAT agmatine ureohydrolase (agmatinase) 1580863 8125298,9373149,16710414,16511187,15489334,15028567,14702039,14648699,12477932,11914032,11804860,9758718,20379614,20808825,20877624 79814 NM_024758,AL121992,CH471167,AK130034,AK225366,AY057097,BC005090,BM788254,U58668 NP_079034,CAI22366,EAW51735,EAW51736,EAW51737,EAW51738,AAL24446,AAH05090,Q9BSE5,ABM84456,ABM87745 Hs.567583 FLJ23384 AUH|agmatinase, mitochondrial protein-coding 1346834 AGMX2 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) 179 1348475 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) 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] 1580863 9461603,19143821,17707131,16870193,16571775,15489334,14702039,14656967,14574404,12477932,11487472,9450025,9291118,9212163,9110174,8619474,16341674,16344560,19851445,8944226 10554 NM_006411,AL662828,AL662884,AL845464,BX284686,BX927239,CH471081,CR812478,CR933878,U89336,AF007145,AF218034,AK056346,AK058025,AK129818,AK299252,NM_032741,AK315950,BC002402,BC003007,BC004310,BC006818,BC090849,CR595752,CR600479,CR602928,CR622553,CR623567,U56417,U75971,Y09565,AI193422,BM763275,DA529681,DB118884 NP_116130,NP_006402,CAI17430,CAI18347,CAI41807,CAM26221,CAQ06593,EAX03599,EAX03600,EAX03601,EAX03602,EAX03603,EAX03604,EAX03605,EAX03606,CAQ10697,CAQ09622,AAB47493,AAC19153,AAG17276,BAG51685,BAG61283,BAH14321,AAH02402,AAH03007,AAH04310,AAH90849,AAB58775,AAB96378,CAA70758,Q71VH6,Q99943,Q9HBM8 Hs.409230 1-AGPAT1|G15|LPAAT-alpha|LPAATA|MGC4007|MGC5423 1-AGP acyltransferase 1|1-AGPAT 1|1-acyl-sn-glycerol-3-phosphate acyltransferase alpha|1-acylglycerol-3-phosphate O-acyltransferase 1 (acetoacetly Coenzyme A thiolase)|lysophosphatidic acid acyltransferase alpha|lysophospholipid acyltransferase protein-coding 1319453 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) 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] 1580863,1598407,1598785 9461603,9242711,9212163,18698612,18155601,16870193,16435205,15841084,15629135,15489334,15181077,15146197,15028826,14602785,12477932,11967537,10487716,9291118,19226263,19278620,8944226 1598785 10555 CN407343,CR590402,CR590462,CR592360,CR597301,CR598618,CR601358,CR602303,CR603192,CR605868,CR611946,CR615685,CR623942,CR624126,CR625982,U56418,BF347518,NM_001012727,NM_006412,NG_008090,AL590226,CH471090,AF000237,AF011374,BC000026,BC004529,BC007269,BC019292 AAB58776,O15120,Q8WUW2,Q96IS9,ABM83072,ABM86268,NP_001012745,NP_006403,CAH71722,CAH71723,EAW88249,EAW88250,EAW88251,EAW88252,AAC51649,AAB64299,AAH00026,AAH04529,AAH07269,AAH19292 Hs.320151 1-AGPAT2|BSCL|BSCL1|LPAAB|LPAAT-beta 1-AGP acyltransferase 2|1-AGPAT 2|1-acyl-sn-glycerol-3-phosphate acyltransferase beta|1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase-beta)|lysophosphatidic acid acyltransferase beta|lysophosphatidic acid acyltransferase-beta protein-coding 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] 1580863 11487472,17207965,20537980,12107412,15367102,16620771,16780588,15489334,14702039,12975309,12477932,19635840,20379614 56894 BC040603,BC063552,BM083518,BM476336,CD672915,NM_001037553,AB001523,AP001053,AP001054,CH471079,AB040138,AF156774,AF156775,AK026135,AK074300,AK125804,AK300562,AL109795,AL355720,AL355721,AL832919,AY358704,BC004219,BC004413,BC011971,BC013167,BC026047,NM_020132 ADQ31993,AAH40603,AAH63552,Q8TEB0,Q9NRZ7,NP_064517,NP_001032642,EAX09461,EAX09462,EAX09463,EAX09464,EAX09465,BAB18943,AAF80336,AAF80337,BAB85042,BAC86299,BAG62268,CAD38635,AAQ89067,AAH11971 Hs.248785 LPAAT-GAMMA1|MGC4604 1-AGP acyltransferase 3|1-AGPAT 3|1-acyl-sn-glycerol-3-phosphate acyltransferase gamma|OTTHUMP00000109482|OTTHUMP00000109485|OTTHUMP00000109487|lysophosphatidic acid acyltransferase gamma|lysophosphatidic acid acyltransferase-gamma1 protein-coding 1354001 AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) 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] 1580863 15367102,11487472,17474147,15489334,14574404,12975309,12477932,9828130,17207965,20379614 56895 AL109942,CH471051,AF156776,AJ227890,AJ227891,AJ420473,AK074208,AK295025,AK295548,AK295826,AK297636,AK299721,AL122123,AL832128,AY358506,BC013410,BC020209,BQ072907,CR590247,CR609642,CR612654,CR615061,CR615644,CR621965,CR623504,CR627395,NM_020133 Q9NRZ5,ADQ32161,Q6PJN9,NP_064518,CAI21475,CAI21478,CAI21480,EAW47577,EAW47578,EAW47579,EAW47580,EAW47581,EAW47582,EAW47583,AAF80338,BAG58081,BAG58454,BAG58643,BAG60008,BAG61621,AAQ88870,AAH13410,AAH20209,CAH10489,Q6AI25 Hs.353175 1-AGPAT4|LPAAT-delta|RP3-473J16.2|dJ473J16.2 1-AGP acyltransferase 4|1-AGPAT 4|1-acyl-sn-glycerol-3-phosphate acyltransferase delta|lysophosphatidic acid acyltransferase delta|lysophosphatidic acid acyltransferase-delta (LPAAT-delta) protein-coding 1347516 AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) 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] 1580863 15367102,11487472,11256614,16620771,16381901,16341674,15489336,15489334,14702039,12477932,11230166,11076863,20379614,20877624 55326 NM_018361,AF287957,CH471153,CQ834440,CQ834528,AF375789,AK002072,AK021722,AK310545,AL136587,AL514578,BC023550,BC068519,BC080537,BM837881,CA414711,CR608096,CR611576,CR621552,CR624453 NP_060831,EAW80476,EAW80477,EAW80478,CAH05435,CAH05479,AAK54809,BAA92069,CAB66522,AAH23550,AAH68519,AAH80537,Q6NUM7,Q9NUQ2,CAL37777,CAL37936,ABM84362,ABM87746 Hs.624002 1AGPAT5|LPAATE 1-AGP acyltransferase 5|1-AGPAT 5|1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon|lysophosphatidic acid acyltransferase epsilon protein-coding 3077880 AGPAT5P1 1-acylglycerol-3-phosphate O-acyltransferase 5 pseudogene 1 646231 AADB02027006,ABBA01069784,ABBA01069785,AC006152 pseudo 1606717 AGPAT6 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) 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] 18238778,16713569,16625827,15489334,12975309,12938015,12477932,8944226,20181984 137964 NM_178819,AC009630,CH471080,AF317516,AF406612,AL834255,AY358670,AY513610,BC051377,BC061884,BU620295,CR617473,DB470455,GM839075 NP_848934,EAW63253,EAW63254,EAW63255,AAG33063,AAP21893,CAD38930,AAQ89033,AAS82774,AAH51377,AAH61884,Q2TU73,Q86UL3,Q9HAM9,CAT16184 Hs.355753 DKFZp586M1819|LPAAT-zeta|LPAATZ|TSARG7 1-AGP acyltransferase 6|1-AGPAT 6|1-acyl-sn-glycerol-3-phosphate acyltransferase zeta|GPAT4|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 protein-coding 1606210 AGPAT9 1-acylglycerol-3-phosphate O-acyltransferase 9 Glycerol-3-phosphate (G3P) acyltransferases (GPAT; EC 2.3.1.15), such as GPAM (MIM 602395) and GPAT3, catalyze the initial step of de novo triacylglycerol (TAG) synthesis by converting glycerol-3-phosphate (G3P) to lysophosphatidic acid (LPA) (Cao et al., 2006 [PubMed 17170135]).[supplied by OMIM] 12477932,17170135,17002884,15221005,14702039,12975309,9373149,8125298,20181984 84803 NM_032717,AC021192,AC096768,CH471057,AB075872,AK055749,AK223543,AY358100,BC006236,BC073136,BC090956,DQ324782,DQ345298,GM839137,HI574350 NP_116106,EAX05944,EAX05945,EAX05946,BAD38654,BAB71002,BAD97263,AAQ88467,AAH73136,AAH90956,ABC55674,ABC70186,Q53EU6,CAT16202,CBX47664 Hs.99196 AGPAT8|GPAT3|HMFN0839|LPAAT-theta|MAG1|MGC11324 1-AGP acyltransferase 9|1-AGPAT 9|1-acylglycerol-3-phosphate O-acyltransferase 8|GPAT-3|MAG-1|OTTHUMP00000160987|acyl-CoA:glycerol-3-phosphate acyltransferase 3|glycerol-3-phosphate acyltransferase 3|hGPAT3|lung cancer metastasis-associated protein 1|lysophosphatidic acid acyltransferase theta|lysophosphatidic acid acyltransferase, theta protein-coding 1606741 AGPHD1 aminoglycoside phosphotransferase domain containing 1 18780872,16341674,12477932,18385738,18385676,20554942,20587604,19300482,19654303,19733931,20548021,21081471 123688 NM_001083612,NM_001013619,AC027228,CH471136,AK126453,BC132753,BC144383,BM045979,BM826406,DN831396 NP_001077081,NP_001013641,EAW99167,EAW99168,BAC86556,AAI32754,AAI44384,A2RU49,ADR83508 Hs.307962 aminoglycoside phosphotransferase domain-containing protein 1 protein-coding 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] 1300366,1580863,1598794 9553082,10215861,18571506,17601746,11330037,11152660,10683770,10553003,10415121,10384985,9373149,9266692,9187299,8125298,7807941,4031664,3646870,2464339,1495418,18029348,20877624,16756494,20379614,20562859 1300366,1598794 8540 NM_003659,NG_008968,AC016762,AC019080,AC073834,CH471058,AA832354,AK296239,AK309714,AK314259,AK316240,AL359559,AY544121,BC141820,BQ007087,CR591757,CR606155,CR749699,DC402978,Y09443 NP_003650,AAY24300,AAY14986,AAX93112,EAX11057,EAX11058,BAH12290,BAG36924,BAH14611,AAT11152,AAI41821,CAA70591,O00116,Q53S12,Q53SG6,Q53SN7 Hs.516543 ADAP-S|ADAS|ADHAPS|ADPS|ALDHPSY|DKFZp762O2215|FLJ99755 aging-associated gene 5 protein|aging-associated protein 5|alkyl-DHAP synthase|alkyldihydroxyacetonephosphate synthase, peroxisomal|alkylglycerone-phosphate synthase protein-coding 1312142 AGR2 anterior gradient homolog 2 (Xenopus laevis) 2325658,2325659,2325661 15340161,18973922,18829536,18801625,18029348,17694278,17457305,16713569,16551856,16222343,16189514,16169070,15935701,15834940,15489334,12975309,12853948,12690205,12592373,12477932,10965104,9790916,9373149,8125298,20877624,20888340,20550709,20525379,19359471,19609859,19834055,20048076,20403997,20525245,20299546 2325658,2325659,2325661 10551 AK296721,AC073333,CH236948,CH471073,DQ070893,AF007791,AF038451,AF038452,AF087879,AF088867,AF115926,AK223067,NM_006408,AK312942,AY359009,BC015503,BF680655,BT007048,CR610899,CS488906 NP_006399,AAP22354,EAL24283,EAW93682,EAW93683,AAY84773,AAY84774,AAY84775,AAY84776,AAC77358,AAC82614,AAP97179,AAF22484,AAL54870,BAD96787,BAG59310,BAG35784,AAQ89368,AAH15503,AAP35697,O95994,Q4JM46,Q4JM47,Q53G64,ABM81571,ABM84751,CAM55980 Hs.530009 AG2|GOB-4|HAG-2|PDIA17|XAG-2 AG-2|HPC8|OTTHUMP00000201755|OTTHUMP00000201757|anterior gradient 2 homolog|anterior gradient 2 homolog (xenopus laevis)|anterior gradient protein 2 homolog|protein disulfide isomerase family A, member 17|secreted cement gland homolog|secreted cement gland protein XAG-2 homolog protein-coding 1604981 AGR3 anterior gradient homolog 3 (Xenopus laevis) 15340161,15489334,12975309,15935701,12690205,12592373,12477932,12477722,8889548,20219921 155465 NM_176813,AC098592,CH236948,CH471073,AY069977,AY359065,BC058284,BG540617,BM984550,BU682778,CB242846 NP_789783,EAL24282,EAW93685,AAL55402,AAQ89424,AAH58284,Q8TD06 Hs.100686 AG3|BCMP11|HAG3|PDIA18|hAG-3 AG-3|OTTHUMP00000201702|anterior gradient protein 3 homolog|breast cancer membrane protein 11|protein disulfide isomerase family A, member 18 protein-coding 1606873 AGRN agrin Agrin is a neuronal aggregating factor that induces the aggregation of acetylcholine receptors and other postsynaptic proteins on muscle fibers and is crucial for the formation of the neuromuscular junction.[supplied by OMIM] 19631309,19940118,9417121,1326608,9652404,9405491,15340048,9151673,19598235,19194276,19166823,18025246,17640714,16713569,16487930,16106752,16037493,15694127,15691710,15146197,14702039,12477932,12270958,12073527,12070669,8617505,1851019,1659950,8205617,20471664 375790 NG_016346,NM_198576,AL645608,CH471183,AB191264,AF016903,AK021586,AK125197,AK128761,AW204172,BC004220,BC007649,BC034009,BC063620,BC084578,BE383214,BF569502,BF740118,BQ892267,CN314678,S44195,U84406 NP_940978,CAI15575,CAI15576,EAW56293,BAD52440,AAC39776,BAG51039,AAH04220,AAH07649,AAH34009,AAH63620,AAH84578,AAB23327,AAB52917,O00468,Q15952,Q5XG79 Hs.273330 FLJ45064 agrin|agrin proteoglycan protein-coding 736333 AGRP agouti related protein homolog (mouse) Agouti-related protein is 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. Agouti-related protein is alternatively spliced into 2 variants which differ in 5' untranslated sequence length. [provided by RefSeq] 1580863,1357925,2314000,2311538,2314004,1625232,1331525,1300272,1625233 9311920,10318826,19285986,19077438,19058789,17197106,17180153,17041250,16904835,16820227,10366820,9893984,9892020,9751529,9724530,9354787,9119224,19770186,20164781,16568137,16320160,16314751,16280444,16130030,15978665,15597110,15546902,15489334,15121772,15054840,12815165,12477932,12213871,12153462,12056887,11747427,11602360,11554767,11487744,11344185,11326303,11196643,10371151,15927146,19602223,19942238,20404050,20468064 1357925,2314000,2311538,2314004,1625232,1331525,1300272,1625233 181 NM_001138,NG_011501,AC009061,AF281309,AF314194,CH471092,DQ374394,BC110443,U88063,U89485,BK006637 NP_001129,AAK96256,AAL09457,EAW83137,ABC88473,AAI10444,AAB52240,AAB68621,O00253,DAA06531 Hs.104633 AGRT|ART|ASIP2|MGC118963 agouti-related protein 2289478 SLEP18_H protein-coding 1348196 AGS1 Aicardi-Goutieres syndrome 1 10827106 27003 1350354 AGS2 Aicardi-Goutieres syndrome 2 497264 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] 1581742,1601130,1601134,1601135,1601136,1601138,1601139,1601140,1601143,1566452,1582435,1581938,1566491,1566492,1582118,1581847,1300394,1582152,1582124,1582105,1582434,1331525,1300393,1300273,1601142,1601141,1601132,1580863,1566511 18971559,10406457,1378723,3397061,17159080,8513325,17069818,17906677,15652490,18029348,14718574,6089875,19520069,19509012,19503013,19479237,19473121,19473084,19465003,19463113,19420105,19408837,19404196,19379721,19367093,19365726,19341158,19338750,19332265,19327134,19323983,19288324,19286758,19274077,19263529,19254215,19247266,19243623,19242491,19238444,19236533,19211927,19185300,19183129,19178574,19166692,19164480,19162259,19155782,19145770,19131662,19126660,19112833,12888892,11938025,11926202,11924723,11923700,11923478,11918988,11910301,11910300,11882570,11865575,11862023,11860821,11849656,11815627,11803527,11776100,11756575,11754397,11751698,11747312,11737220,11731937,11725160,11720807,11714857,12579398,12576245,12575194,12569265,12559679,12556231,12548125,12544508,12536339,12513040,12511525,12511523,12482638,12479284,12477932,12476891,12476421,12469628,12454231,12450315,12449516,12446468,12446192,12431442,12426159,12425365,12417054,12394950,12352892,12270765,12234952,12205735,12194787,12187393,12181364,12181363,12173461,12169209,12164881,12145290,12130713,12118911,12095411,12082592,12081721,12051013,12040348,12037699,12031704,12015946,12006677,11997278,11963567,11711524,11709400,11707686,11707217,11689223,11688760,11677365,11677359,11675943,11668351,11593098,11577832,11575217,11544438,11531970,11507973,11484170,11463770,11447495,11431175,11422818,11422735,11393670,11372768,11359462,11355019,11354780,11345362,11341749,11330874,11330506,11325075,11317203,11300226,11288810,11278902,11244011,11234373,11230286,11213892,11208365,11200871,11191642,11181802,11157174,11142763,11136175,11114694,11106322,11096141,11095476,11082147,11053482,11027844,11024214,10969042,10899625,10619573,10419812,9814470,9757569,9694881,9492317,9373149,9120024,8959747,8621667,8548433,8477848,8230088,8185599,8125298,7961807,7888785,7744780,7607642,7539791,7259779,4300938,3934016,3579322,3034901,2924688,2885106,2286380,1756856,1692023,1394429,1132082,28321,12173,16045904,16019571,16007303,16006956,15941661,15934435,15930094,15922319,15915003,15914769,15914614,15905345,15879922,15869758,15860756,15824464,15811183,15798183,15789057,15754274,15743363,15718497,15718424,15676177,15673342,15668245,15662219,15659127,15649942,15642127,15628301,15624175,15621215,15614026,15599691,15575510,15563875,15505642,15504143,15498133,15489334,15480793,15448113,15388495,15387996,15386947,15385810,15364762,15353577,15343353,15326089,15317677,15294367,15278435,15201545,15201544,15192838,15153745,15153556,15149328,15131005,15130920,15123355,15120696,19108684,19105203,19103106,19088254,19086053,19082699,19075095,19067809,19062524,19057513,19023100,19021695,19014923,18985387,18957799,18953568,18945948,18931513,18927546,18924534,19110485,18856058,18855530,18849600,18830250,18802024,18800139,18797412,18794618,18773126,18758497,18722896,18698212,15108186,15097234,15082899,15079791,15077204,15076187,15075192,15067738,15067378,15062885,15055256,15045574,15044674,15042429,15031629,15023884,15017542,15013333,15013322,15013293,14997233,14973087,14970360,14961043,14767903,14767013,14765837,14749533,14700505,14688807,14672953,14669517,14660489,14648325,14644777,14643574,14643573,14642613,14638622,14625185,14610337,14597849,14569094,14565954,14530292,14523024,14521795,14519430,14508191,15112973,15112434,14508190,14502296,14500990,12964504,12950120,12939534,12938141,12932862,12911556,12911327,12898858,12895663,18698203,18689375,18679149,18672804,18660489,18645251,18637188,18636314,18630525,18628677,18619701,18600213,18580852,18575631,18573259,18563171,18562701,18562510,18551010,18543221,18513389,18508830,18496132,18491423,18475146,18454324,18446580,18446309,18441099,18421480,18413308,18413222,18413162,18409009,18404605,18364383,18364271,18328310,18325076,18300856,18292388,18279468,18277167,18260994,18250562,18248681,18243211,18239384,18239157,18227406,18212269,18205097,18175066,18172037,18164957,18069999,18060435,18052686,17998241,17991883,17988266,17984617,17977523,17975262,17964282,17952138,17921816,17921431,17914507,17903694,17903690,17851694,17846284,17823594,17785212,17765139,17702963,17689084,17666408,17653210,17624368,17608790,17595324,17586619,17579251,17569879,17569300,17563539,17546276,17541127,17524880,17522061,17520398,17499413,17492314,17475670,17448297,17429448,17416596,17404186,17389608,17383306,17379330,17378368,17342175,17334527,17327458,17299437,17298481,17291601,17289052,17261659,17257983,17223428,17220293,17215849,17202846,17196163,17190732,17161775,17159089,17145981,17143591,17138938,17124396,17118372,17116328,17112651,17107992,17083073,17083063,17069434,17024648,17003099,16981142,16971959,16963053,16949687,16940224,16937603,16915040,16911698,16893516,16876684,16844946,16823505,16790149,16755155,16741369,16739866,16736244,16724011,16713443,16685579,16685205,16681991,16672053,16671337,16636191,16635753,16618834,16611471,16609364,16603315,16597412,16572049,16565729,16544732,16525944,16521052,16520412,16514903,16492203,16487207,16396964,16392768,16387306,16386515,16384824,16369102,16352906,16344560,16338465,16335952,16314886,16286570,16280278,16276364,16275260,16274774,16266458,16256216,16231503,16228848,16210856,16199891,16189514,16133060,16116425,16115039,16109907,16108768,16105049,16088850,16087781,16061119,16059745,16954165,16047641,12865608,12854169,12832734,12830507,12829792,12819040,12811821,12805070,12767551,12743009,12728975,12716844,12695419,12675870,12670743,12669427,12663475,12663441,12661912,12627873,12624946,12611423,12874613,12597535,12579405,20429690,20484657,20580725,16938176,18240029,19011954,19027823,19059306,19071192,19150387,19225232,19397700,19536167,19546528,19550366,19559392,19563532,19574336,19578796,19583994,19587357,19620885,19634497,19639452,19650251,19666008,19673942,19681973,19708171,19716087,19729601,19729965,19733287,19752885,19759335,19761684,19770777,19779330,19779464,19782519,19811349,19837408,19838007,19853701,19864304,19898482,19932491,19948975,19956635,20027122,20029521,20030467,20044471,20047954,20066125,20075747,20087216,20142115,20153828,20160196,20161734,20185782,20186148,20216084,20223792,20299978,20300047,20308035,20361261,20415212,20448352,20452482,20459474,20486282,20525211,20529973,20537141,20537417,20547537,20549134,20674894,20413984,20431588,20414195,20478903,20592241,2834384,19913121,20536507,20538124,20559404,20570668,20577119,20587546,20592051,20592457,20594303,20602615,20606419,20628086,20662730,20663844,20667857,20673868,20687374,20702504,20722844,20816596,16754659,20978123,20861465,20927107,20663195,20717043,20734064,20824505,20861628,20944660,20945963,20952631,20967221 1581742,1601130,1601134,1601135,1601136,1601138,1601139,1601140,1601143,1566452,1582435,1581938,1566491,1566492,1582118,1581847,1300394,1582152,1582124,1582105,1582434,1331525,1300393,1300273,1601142,1601141,1601132,1566511 183 NM_000029,NG_008836,AL158214,AL512328,AY436323,CH471098,EU326304,M24689,S78529,S78530,X15324,AB209769,AK222798,AK222815,AK293507,AK303755,AK307978,AK312291,AU128714,AW128887,BC011519,BF338744,BT006851,CR591984,CR592799,CR595628,CR601683,CR606672,CR607896,CR607898,CR615493,CR615499,CR618295,CR618811,CR618903,CR619790,CR625369,CR625415,DC412932,K02215,M69110,T97863,W01494 NP_000020,CAI15356,AAR03501,EAW69918,EAW69919,ACA05910,AAA51679,AAD14287,AAD14288,CAA33385,BAD93006,BAD96518,BAD96535,BAG56991,BAG64725,BAG35218,AAH11519,AAP35497,AAA51731,AAA52282,P01019,Q53GY3,Q53YY1,Q59EP2,Q86U78,ABM81942,ABM85122 Hs.19383 ANHU|FLJ92595|FLJ97926|SERPINA8 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 protein-coding 1346339 AGTBP angiotensin binding protein 184 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] 16713569,15302935,14702039,12477932,11884758,11083920,10470851 23287 NM_015239,AL157882,AL451131,CH471089,AB028958,AJ420433,AJ437018,AK001544,AK022562,AK023280,AK024698,AK295304,AK295774,AK299506,AL833359,BC060815,BX648366,CA449535,DC334722 NP_056054,CAH71212,CAH71213,CAH71214,CAH71215,CAH72317,CAH72318,EAW62694,EAW62695,EAW62696,EAW62697,EAW62698,EAW62699,BAA82987,CAD24587,BAA91749,BAB14100,BAB14505,BAG58284,BAG58598,BAG61460,CAH56222,AAH60815,CAH56158,Q8TE37,Q9UPW5 Hs.719980 DKFZp686M20191|KIAA1035|NNA1 ATP/GTP-binding protein 1|OTTHUMP00000021580|cytosolic carboxypeptidase 1|nervous system nuclear protein induced by axotomy|nervous system nuclear protein induced by axotomy protein 1 homolog protein-coding 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. At least five transcript variants have been described for this gene. Additional variants have been described but their full-length nature has not been determined. The entire coding sequence is contained in the terminal exon and is present in all transcript variants. [provided by RefSeq] 1566498,1566499,1580863,737778,629553,1598885,1582124,1331525,1581825,1598878,1581847,1582152,737777,1601149,1601146,1601148,1601150,1601152,1601151,737809,737810,2292665,1642975 20558762,20304486,20080265,18971559,10993080,1378723,8135787,1567413,16116425,17069818,17159080,15117835,19620885,19593696,19587357,19559392,19546528,19520069,19509012,19503013,19487683,19479237,19463113,19424575,19420105,19418628,19408837,19341158,19332265,19330904,19327134,19308748,19302184,19288324,19286759,19286758,19282863,19276075,19274077,19274051,19263529,19254215,19253715,19247266,19245071,19242491,19238444,19236533,19185300,19178574,19166692,19162259,19162241,19145770,19131662,19112833,19110485,19108684,19102886,19086053,19082699,19067809,19064815,19059460,19057513,19056482,19040540,19026696,19023273,19023134,19021695,19017652,19014923,18985387,18974842,18953568,18927546,18856058,18855530,18830250,18800139,18787943,18787507,18767410,18719072,18703536,18700314,18698212,18679149,18676046,18660489,18641512,18637188,18633425,18622242,18612202,18594540,18594050,18575418,18565507,18563171,18551012,18550936,18550062,18534055,18513389,18497458,18491423,18488444,18475152,18464932,18464745,18446309,18434621,18432064,18417209,18414380,18413308,18413222,18413189,18364271,18348177,18347611,18331441,18328310,18308844,18296263,18261537,18260840,18245065,18239384,18239157,18231736,18205094,18202720,18188697,18172057,18158351,18091746,18069999,15013333,15013322,15013293,14997233,14987254,14767013,14765837,14764974,14749533,14730619,14654250,14627489,14610337,14597852,14569094,14530292,14529856,14521778,14508191,14502296,12960024,12950120,12932862,12925562,12904590,12898858,12897464,12891302,12865608,12860335,12842881,12832734,15031629,15017542,12778448,12747597,12728975,12716844,12695419,12694874,12694873,12660887,12631360,12627873,12627871,12624609,12597535,12593997,12591176,12579405,12579398,12556231,12544508,12544439,12534336,12522467,12522132,12514663,12513040,12511523,12482634,12477932,12476891,12473660,12460700,12454231,12450401,12446598,12446192,17993594,17992634,17988266,17984617,17921816,17921431,17921131,17914507,17903694,17851694,17785770,17728799,17726226,17725712,17719203,17710578,17703434,17702963,17668390,17617024,17601799,17595257,17588946,17586781,17586411,17569300,17557241,17546276,17541127,17524880,17522061,17520398,17519002,17499413,17487826,17486447,17446655,17446269,17433630,17429042,17399955,17378368,17375465,17336987,17334527,17327458,17326392,17299793,17298481,17293603,17285438,17274465,17270098,17261659,17256744,17229913,17227479,17223428,17220293,17211857,17211247,17207964,17190732,17173513,17166941,17165166,17160213,17146658,17143591,17118791,17118790,17118372,17097490,17051401,17024648,17008309,16998258,16954165,16923768,16911325,16893516,16876684,16831865,16823505,16805920,16790149,16787961,16775386,16741935,16741369,16736244,16691016,16685579,16684954,16675453,16672053,16651460,16636899,16615274,16611642,16609364,16603315,16565729,16550310,16530863,16525944,16525943,16522324,16521052,16519598,16504375,16498788,16492203,16468060,16434990,16398146,16396964,16395664,16384824,16369102,16364240,16339777,16314886,16294326,16276415,16274774,16271939,16231503,16189286,16188060,16152821,16112405,12436935,12425365,12394950,12390711,12358135,12187084,12133518,12133421,12127057,12117739,12095411,12048678,12045255,12034692,12031955,12006574,11999641,11967817,11938025,11926202,11924723,11923700,11913624,11910301,11910300,11909563,11903322,11882570,11881039,11865575,11852019,11799082,11798574,11793845,11793101,11776100,11775887,11774217,11733189,11711524,11709801,11709400,11707686,11707217,11696688,11696658,11692158,11689223,11688760,11687736,11682489,11593098,11579203,11577832,11575217,11531970,11484170,11444146,11359462,11355019,11354780,11341749,11336183,11330506,11324803,11317203,11289708,11288810,11279203,11250978,11246471,11226259,11213892,11208365,11158334,11137090,11136175,11122322,11110972,11106322,11085286,11082147,11081769,11079515,10972591,10510297,9766385,9606715,9516477,9468203,9074770,8753867,8662816,8185574,8166699,8021009,7980575,7792812,7746328,7491117,1683828,1550596,1543512,1508224,9211925,14657020,16109085,16108768,16105049,16088850,16076618,16061119,16047641,16012192,16006956,15949885,15946912,15934435,15930094,15923814,15914614,15905345,15890659,15863668,15848528,15824464,15797649,15785027,15775779,15743363,15718497,15718424,15694792,15683714,15676177,15673342,15662219,15635042,15628301,15612584,15590451,15580058,15563875,15545843,15545271,15543360,15505642,15504143,15498833,15498791,15498133,15496309,15492474,15480098,15480097,15458433,15454732,15452107,15385810,15376229,15364762,15355986,15353577,15332573,15326089,15295089,15269283,15238568,15221785,15212666,15196067,15193960,16109907,16109807,15193870,15153745,15130920,15126556,15108186,15097234,15080371,15062885,15045574,15042429,18026817,18006496,20560294,20580725,19779016,15452121,15611106,17393691,18240029,19218102,19304510,19309260,19397700,19461648,19524223,19578796,19635801,19680137,19681973,19696781,19706169,19713412,19716087,19729965,19752885,19755917,19779330,19779464,19782519,19811349,19833117,19853701,19929134,19940150,19948975,19954723,19956635,19997001,20026870,20027122,20066125,20108069,20137558,20142115,20161734,20181817,20223791,20223792,20300066,20302034,20308035,20351714,20452482,20465154,20486282,20525211,20537417,20537563,20118823,20478903,19913121,20458733,20536507,20559404,20565774,20570668,20577119,20594303,20602615,20606419,20628086,20659024,20667857,20673868,20703234,20732682,20816596,16754659,20943774,18059164,18577758,20824505,20851291,20854100,20854388,20856803,20861505,20864943,20945417,20966899,20975235,21052031,21086617 1566498,1566499,737778,629553,1598885,1582124,1331525,1581825,1598878,1581847,1582152,737777,1601149,1601146,1601148,1601150,1601152,1601151,737809,737810,2292665,1642975 185 NM_031850,NM_000685,NM_004835,NM_009585,NM_032049,NG_008468,AC024897,AF245699,AY221090,AY436325,CH471052,M91464,S70433,U07144,Z11162,AI240900,AK291541,BC022447,BC068494,CR593142,CR600504,CR601313,D13814,M87290,M93394,S77410,X65699,EU332837 NP_114038,NP_000676,NP_004826,NP_033611,NP_114438,AAF70464,AAO65968,AAR03503,EAW78905,EAW78906,EAW78907,EAW78908,EAW78909,AAA35569,CAA77513,BAF84230,AAH22447,AAH68494,BAA02968,AAA35535,AAA58370,AAB34644,CAA46621,P30556,Q53YY0,Q6NUP5,Q8TBK4,ABM83314,ABM86527,Q13063,ABY87526 Hs.477887,Hs.725943 AG2S|AGTR1A|AGTR1B|AT1|AT1B|AT1R|AT2R1|AT2R1A|AT2R1B|HAT1R AT1AR|AT1BR|angiotensin II type-1 receptor|angiotensin receptor 1|angiotensin receptor 1B|type-1 angiotensin II receptor|type-1B angiotensin II receptor protein-coding 619558 AGTR2 angiotensin II receptor, type 2 Angiotensin II is a potent pressor 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 termed AT1 and AT2. AGTR2 belongs to a family 1 of G-protein coupled receptors. It is an intergral membrane protein. It plays a role in the central nervous system and cardiovascular functions that are mediated by the renin-angiotensin system. This receptor mediates programmed cell death (apoptosis). In adults, it is highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. It is highly expressed in fetal kidney and intestine. The human AGTR2 gene is composed of three exons and spans at least 5 kb. Exons 1 and 2 encode for 5' untranslated mRNA sequence and exon 3 harbors the entire uninterrupted open reading frame. [provided by RefSeq] 2313550,2313551,2313554,1566502,1581855,1580863,1581825,1582118,1582124,1300276,1300274,1300275,2325641 19357319,12544508,8502225,18344519,17159079,17000928,12089445,17159080,15710780,10406457,15117835,7477266,7945336,19509012,19404281,19344625,19308748,19288324,19274051,19194560,19155782,19082699,19074441,19074439,19023273,18848837,18660489,18594540,18534055,18488444,18437528,18417209,18404604,18331441,18328310,18296263,18254975,18205097,18188697,18049304,17944121,17707359,17653210,17630322,17620959,17548686,17522061,17515833,17499413,17433630,17336987,17270098,17261659,17160213,16954165,16944335,16609364,16598200,16550310,16522324,16395664,16344560,16289034,16283672,16133060,16112405,16109806,16080803,15914614,15772651,15638358,15489334,15470205,15458433,15385810,15221785,15123706,15123577,15013333,15013322,15013293,14987254,14764974,14657020,14627490,14598163,12925562,12924622,12911547,12881481,12800945,12746399,12660887,12579398,20304486,12531525,12522467,12477932,12464615,12453540,12187255,12133421,11880254,11819093,11709400,11544438,11459796,11446495,11324803,11200871,11153734,11081769,11055978,11053482,10710290,9884335,9099917,8957548,8663053,8552595,8185599,7999093,7790004,7733925,7719706,7477267,1550596,11733189,19759061,19779016,19861345,19861347,19861349,19861351,19861352,19861353,17393691,18240029,19397700,19524223,19578796,19628789,19716087,19781541,19820429,19948975,19959718,19959996,19996275,20149750,20237496,20300066,20371166,20467270,20486282,20181281,18059164,2834384,19913121,20592051,20606419,20628086,18577758,20844184 2313550,2313551,2313554,1566502,1581855,1581825,1582118,1582124,1300276,1300274,1300275,2325641 186 AAB34100 NM_000686,AL732602,AY322542,AY324607,AY359674,AY359675,AY536522,CH471234,L34579,U10273,U15592,U20860,U27478,X87722,AI911273,AK313927,BC095504,CR541969,CR738498,DA538369,U16957,X87723,NG_016326 NP_000677,CAI40984,AAP84355,AAP72969,AAQ62073,AAS45437,EAW51502,AAA98990,AAA61794,AAA50762,AAA85851,AAA84900,BAG36648,AAH95504,CAG46767,AAA67753,CAA61022,AAB34100,P50052,Q6UVH2 Hs.405348 AT2|ATGR2|MRX88 angiotensin II type-2 receptor|type-2 angiotensin II receptor protein-coding 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] 2314353,2314351 19913121,20628086,19060904,19430483,20018811,20541774,19805740,16710414,15757644,15668245,15489334,14985364,14559250,12960423,12477932,12107413,11733189,11162453,10358057,16189514 2314353,2314351 57085 NM_001040197,NM_001040196,NM_020350,NM_001040194,NM_001040195,AL953897,AY488088,CH471130,AF165187,AF312374,AI741916,AK290042,BC011946,BC017328,BE782705,BI117521,BQ672962,CA866314,CD674964 NP_001035287,NP_001035286,NP_065083,NP_001035284,NP_001035285,CAI15876,CAI15877,CAI15878,CAI15879,AAR25556,EAW71702,EAW71703,EAW71704,EAW71705,AAF89547,AAL26806,BAF82731,AAH17328,Q6RW13,ABM83545,ABM86785 Hs.464438 ATRAP|MGC29646 AT1 receptor-associated protein|ATI receptor-associated protein|OTTHUMP00000002272|OTTHUMP00000221111|angiotensin II, type I receptor-associated protein|type-1 angiotensin II receptor-associated protein protein-coding 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] 1300048,1580863,1302510,1300367 2363689,15911627,12899834,15802217,3709805,1703535,7813517,19155213,18782763,18492492,18468259,18448374,18289107,17495019,17460142,17110443,16971151,16912707,15961951,15849466,15365967,15327387,15253729,12777626,12477932,12169688,11562405,11085934,10960483,10862087,10453743,10394939,9192270,8906307,8507692,8101040,8034295,2253628,2045108,2039493,1961759,1349575,1301173,16712791,15956068,16169070,19479957,19887726,20016466,20056599,20059472,20133649,20208150,20308030,20734048,20877624 1302510,1300367 189 NM_000030,NG_008005,AC104809,CH471063,M61763,X74208,X74209,AA857309,AB292648,AF191687,AF348451,AK292754,AK298400,AK298420,AK315331,AK316495,BC132819,CB156891,CR598889,CR603072,CR614071,CR620771,D13368,X53414,X56092 NP_000021,AAY24168,EAW71221,EAW71222,AAA51680,BAF46862,AAF05604,AAK30157,BAF85443,BAH12776,BAH12784,BAG37731,BAH14866,AAI32820,BAA02632,CAA37493,CAA39572,P21549,Q9BXA1,Q9UJX1 Hs.144567 AGT|AGT1|AGXT1|PH1|SPAT|SPT|TLH6 L-alanine: glyoxylate aminotransferase 1|alanine--glyoxylate aminotransferase|hepatic peroxisomal alanine:glyoxylate aminotransferase|serine--pyruvate aminotransferase|serine-pyruvate aminotransferase|serine:pyruvate aminotransferase protein-coding 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] 1580863 15342556,15240345,14702039,12477932,20877624,9373149,8125298,7592550,16344560,20018850,15956068 64902 NM_031900,AC010368,CH471119,AB193309,AJ292204,AK055732,AK055757,AK223128,AK223144,AK223375,AK296109,AK314691,BC144268,BC150603,BP277413,DA633665 NP_114106,EAW55912,BAD66662,CAC24841,BAG51563,BAG51568,BAD96848,BAD97095,BAH12259,BAG37242,AAI44269,AAI50604,Q9BYV1,AAI56125,AAI56920 Hs.34494 AGT2|DAIBAT (R)-3-amino-2-methylpropionate--pyruvate transaminase|OTTHUMP00000221043|alanine--glyoxylate aminotransferase 2, mitochondrial|beta-ALAAT II|beta-alanine-pyruvate aminotransferase protein-coding 1350227 AGXT2L1 alanine-glyoxylate aminotransferase 2-like 1 632008 14702039,12477932,20332099 632008 64850 NM_031279,NM_001146590,NM_001146627,NR_027474,NR_027475,AC097473,CH471057,AJ298293,AK091888,AK294072,AK294235,BC022526,DC311077,DC327590 NP_112569,NP_001140062,NP_001140099,AAY40946,EAX06235,EAX06236,EAX06237,CAC22253,BAC03766,BAH11666,BAH11710,AAH22526,Q8TBG4 Hs.106576 OTTHUMP00000219616|OTTHUMP00000219619|alanine--glyoxylate aminotransferase 2-like 1 protein-coding 1602671 AGXT2L2 alanine-glyoxylate aminotransferase 2-like 2 20877624,16344560,16189514,14702039,12477932,17207965 85007 AC136601,AC136632,CH471165,AA862441,AF318375,AK023470,AK024076,AK093737,AK292061,BC008009,BC028002,BC037238,BC037567,BC039012,NM_153373,BC067745,BC088800,BC110335,CR611632,CR619518,DB022121 NP_699204,EAW53835,EAW53836,EAW53837,EAW53838,EAW53839,EAW53840,EAW53841,AAL55882,BAG51198,BAF84750,AAH08009,AAH37567,AAI10336,Q8IUZ5,ADQ31790 Hs.248746 MGC117348|MGC15875|MGC45484 alanine--glyoxylate aminotransferase 2-like 2 protein-coding 1603679 AHCTF1 AT hook containing transcription factor 1 18029348,17098863,17081983,16964243,16565220,15489334,14702039,12477932,11952839 25909 AK122844,AL080144,AL832213,AL833491,AY157619,BC012307,BC030564,BC047361,NM_015446,AC113174,CH471148,AB059277,AF173978,AK091364,AK091510,AK095398 BAG53044,BAG53757,CAB45737,AAN65622,AAH12307,Q8WYP5,AAI56055,NP_056261,EAW77165,EAW77166,EAW77167,EAW77168,BAB78516,AAQ13621,BAG52342 Hs.300887,Hs.470435 DKFZp434N093|ELYS|MST108|MSTP108|TMBS62 ELYS transcription factor like protein TMBS62|ELYS transcription factor-like protein TMBS62|OTTHUMP00000038418|OTTHUMP00000038419|embryonic large molecule derived from yolk sac|protein ELYS|putative AT-hook-containing transcription factor 1 protein-coding 1605826 AHCTF1P AT hook containing transcription factor 1 pseudogene 14702039 285116 NG_002622,AC009487,AK057394 BAB71468,Q96M44 Hs.470435 AHCTF1P|ELYS-like pseudo 731745 AHCY adenosylhomocysteinase S-adenosylhomocysteine hydrolase 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. S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. [provided by RefSeq] 1601153,1580863,1300048,1598896,1598897,1300368,1598898,730275 2596825,17353931,19161160,19048631,18978678,18769049,18713839,18683034,18635682,18522500,18427977,18393535,18211827,17892301,17688412,17447732,17172447,17164794,17097637,17081065,15489334,15241484,15024124,14702039,12590576,12477932,12369977,12069606,12063172,11780052,10933798,9586999,7786017,7608178,7079734,6586634,6580258,2574561,715439,309884,16344560,19619139,19683694,20392501,20458436,20308539,19913121,20615890,20628086,20634891 1601153,1598896,1598897,1300368,1598898,730275 191 NM_000687,AL356299,CH471077,AK097610,AK290422,AK300014,AK309204,AK316180,BC010018,BC011606,BC114924,BT006697,CR594678,CR603449,CR603916,CR609798,CR610700,CR613383,CR614546,CR616968,CR619776,M61831,M61832,BE785593,DB043400,DC301059,DC413105,NG_012630,NM_001161766 NP_000678,CAC09528,EAW76279,EAW76280,EAW76281,BAG53495,BAF83111,BAG61829,BAH14551,AAH10018,AAH11606,AAI14925,AAP35343,AAA51681,AAA51682,P23526,Q1RMG2,ABM92186,ABM82627,ABM84656,ABM86323,NP_001155238 Hs.388004 SAHH S-adenosyl-L-homocysteine hydrolase|S-adenosylhomocysteine hydrolase|adenosylhomocysteinase|adoHcyase protein-coding 1320280 AHCYL1 adenosylhomocysteinase-like 1 1580863 19220705,16769890,16754674,16710414,15951569,15489334,12878157,12525476,12477932,11904675,10070969,9110174,8619474,7782076,19019082,20584908,19615732 10768 AL772411,CH471122,AA865152,AF035319,AF090905,AF315687,AK131563,AK303690,AK308080,AK313392,AK316110,AL049954,BC003631,BC007576,BC010681,BC016942,BC065254,BC095476,BC110896,BC111563,NM_006621,BK005417,BK005418,BQ774807,CF456195,CR591659,CR592324,CR596695,CR606586,U82761,FB775494 NP_006612,CAH70965,CAH70966,EAW56422,EAW56423,EAW56424,EAW56425,EAW56426,EAW56427,AAB88189,AAF24028,AAL26869,BAD18696,BAG64680,BAG36190,BAH14481,CAB43223,AAH03631,AAH07576,AAH10681,AAH16942,AAH65254,AAH95476,AAI10897,AAI11564,DAA05762,DAA05763,AAC01960,O43210,O43865,Q2NKW8,Q6ZMM9,Q9BTL0,Q9UI76,AAI40415,AAI46493,ABM81947,ABM85127,ACE87278,ACE86597,CAV30704 Hs.725986 DCAL|IRBIT|PRO0233|XPVKONA DC-expressed AHCY-like molecule|OTTHUMP00000013377|S-adenosyl homocysteine hydrolase homolog|S-adenosyl-L-homocysteine hydrolase 2|S-adenosylhomocysteine hydrolase-like 1|S-adenosylhomocysteine hydrolase-like protein 1|adoHcyase 2|dendritic cell expressed AHCY-like protein|inositol 1,4,5-trisphosphate receptor-binding protein|putative adenosylhomocysteinase 2 protein-coding 1601771 AHCYL2 adenosylhomocysteinase-like 2 16865262,16344560,15489334,12477932,10048485,20694014,19615732 23382 AK316073,BC008349,BC024325,CR595025,DA429263,NM_001130720,NM_001130722,NM_001130723,AC009244,AC011005,AC083866,AC093149,CH236950,CH471070,AB020635,AK025372,AK295851,NM_015328,BG700017,DA890615 BAG58657,BAH14444,AAH08349,AAH24325,Q6ZNS6,Q96HN2,NP_056143,NP_001124192,NP_001124194,NP_001124195,EAW83716,EAW83717,BAA74851 Hs.600789 ADOHCYASE3|FLJ21719|KIAA0828 OTTHUMP00000212357|OTTHUMP00000212358|S-adenosyl-L-homocysteine hydrolase 3|S-adenosylhomocysteine hydrolase-like 2|putative adenosylhomocysteinase 3 protein-coding 1603658 AHDC1 AT hook, DNA binding motif, containing 1 16713569,15146197,12477932,9110174,8619474 27245 NM_001029882,AL031729,CH471059,AK125431,BC002677,BC014394,BC064935,BM989685,CN371147,U79259 NP_001025053,CAI19618,CAI19619,EAX07751,EAX07752,BAC86163,AAH02677,AAH14394,AAB50205,Q5TGY3,AAI52908 Hs.469280 CL23945|DJ159A19.3|RP1-159A19.1 AT-hook DNA-binding motif-containing protein 1|OTTHUMP00000003476|OTTHUMP00000003600|a.T hook DNA-binding motif-containing protein 1 protein-coding 1349401 AHDS Allan-Herndon-Dudley syndrome 193 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] 1598905 19342780,18936234,18785627,18782849,18633336,18227995,18054307,17668382,17473831,17409309,16773125,16453322,16381901,16240161,16155189,15489336,15489334,15467982,15322546,15169551,15060101,14751929,20683928,14574404,12477932,12186888,11230166,11076863,9373149,8125298,20452750,14702039,20580033,20805890,19191019,20045148,20071346,20371615,20379614,21068128 1598905 54806 NM_001134830,NM_017651,NM_001134831,NM_001134832,NG_008643,AL023693,AL049552,AL133544,CH471051,AI300295,AJ459824,AJ459825,AJ606362,AK000076,AK024085,AK092262,AK225210,AL136797,AY133243,BC015019,BC029417,BC039559,BC050607,BC065712,BC094800,BX643029,DQ090887 NP_001128302,NP_060121,NP_001128303,NP_001128304,CAI20201,CAI20385,CAI20387,CAB96731,CAI22521,CAI22523,EAW47962,EAW47963,EAW47964,EAW47965,EAW47966,CAD30871,CAD30872,CAE54481,BAA90929,BAB14820,BAC03840,AAM94177,AAH29417,AAH65712,AAH94800,AAY99645,Q4FD35,Q5TFT1,Q8N157,Q8NER0,Q9H803,Q9NQN3,Q9NXT1,CAL38370,CAB66731 Hs.386684 AHI-1|DKFZp686J1653|FLJ14023|FLJ20069|JBTS3|ORF1|dJ71N10.1 OTTHUMP00000017263|abelson helper integration site|abelson helper integration site 1 protein homolog|contatins SH3 and WD40 domains|jouberin protein-coding 1345625 AHNAK AHNAK nucleoprotein 1580863 16712791,1608957,18334579,16984913,16582619,16319140,15177040,15033986,15001564,14702039,12477932,12153988,11746675,11535620,11312263,10737800,7987395,7789175,14625392,15607035,17207965,16417406,20029029 79026 M80902,X74818,M80899,NM_001620,AP001363,AP003064,CH471076,AK091153,AK095346,AK128868,AK300376,BC000926,BC012477,BC017483,BC128460,BF094607,BF761997,BQ448690,CB129722,NM_024060 AAA69898,AAA69899,CAA52817,Q09666,Q13727,Q6ZQN2,Q8N274,Q96EC4,Q9BVU3,ADQ32850,NP_076965,NP_001611,EAW74019,BAC03596,BAC87652,BAG62112,AAH00926,AAH12477,AAI28461 Hs.502756 AHNAKRS|MGC5395 AHNAK-related|ahnak nucleoprotein (desmoyokin)|desmoyokin|neuroblast differentiation-associated protein AHNAK protein-coding 1320178 AHNAK2 AHNAK nucleoprotein 2 15007166,14702039,12477932 113146 NM_138420,AL512802,AB095939,AK094143,AK095704,AK126472,AL834367,BC004283,BC011859,BC033372,BC049216,BC090889,BC144467,BX537923,BX538040,BX538106,BX538133 NP_612429,BAC23115,CAD39030,AAH11859,AAH33372,AAH49216,AAH90889,CAD97904,CAD97981,CAD98019,CAD98034,Q8IVF2 Hs.441783 C14orf78|KIAA2019 chromosome 14 open reading frame 78|protein AHNAK2 protein-coding 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] 634668,1580863,1300278,1300277,2325664 20140206,20511231,8794892,19340314,19333233,19255421,19158084,19138996,19114668,19034627,19027718,19018768,19013013,18990750,18923163,18818557,18708364,18708059,18677463,18676680,18636124,18632753,18628420,18524851,18515748,18510611,18483242,18433817,18359762,18358233,18303622,18302886,18259752,18065768,18059014,18037991,17963696,17900530,17823304,17823287,17642299,17596880,17559847,17552871,17511620,17502624,17498780,17490615,17429315,17392787,17311112,17244640,17223712,17200336,17174437,17140257,17053541,16985033,16985026,16952353,16922649,16891617,16762319,16675542,16619036,16538170,16481407,16480812,16403814,16337337,16257957,16153594,16109480,16103451,16091746,16084889,15964790,15917307,15897893,15863442,15837795,15774926,15758562,15728486,15641800,15572374,15499202,15489334,15474075,15342792,15190133,15123621,15069065,15026081,14985336,14978034,14973392,14634838,14560034,14550747,12917420,12853948,12852830,12837759,12774124,12730383,12690205,12637498,12612060,12597446,12592376,12586752,12566446,12520072,12480531,12477932,12237327,12215427,12213390,12203118,12200463,12181450,12139968,12065584,12024042,11866883,11835227,11805098,11768231,11756572,11742002,11698344,11689007,11505220,11425848,11408954,11393538,11259615,11259606,11207035,11114727,11032419,11013261,10999956,10986286,10903152,10739168,10620335,10497241,10471301,10428779,10048154,9972449,9837941,9787404,9759704,9712901,9446600,9170146,9111057,9083006,15681594,20395535,20130088,20460431,18029348,21081473,20354149,20804740,20171126,20401977,9079689,10395741,11782478,12213388,7961644,19535631,19465936,19463884,19460354,19415745,19380484,19360915,19358281,19356098,19356061,8393992,8384309,8246913,8125016,8074712,7961671,7883760,7716743,7628454,7566098,7550366,7515333,7488247,9887096,9704006,11259609,17209571,19170196,19371443,19447902,19536146,19556287,19574409,19592671,19625176,19690180,19692168,19726680,19736056,19755661,19789301,19815066,19821039,19917880,19941898,20000589,20032195,20044593,20053997,20064835,20146706,20237496,20301892,20453000,20634891,20676092,20619336 634668,1300278,1300277,2325664 196 NM_001621,AC003075,CH236948,CH471073,D31708,D38044,U28063,U28064,U28066,AA329775,AK307495,BC021696,BC069390,BC070080,BQ020427,BQ024331,BX505160,D16354,L19872 NP_001612,EAL24281,EAW93686,EAW93687,BAA07235,AAA92082,AAA92083,AAA92084,AAH69390,AAH70080,BAA03857,AAA16210,P35869 Hs.171189 bHLHe76 AH-receptor|ah receptor|aromatic hydrocarbon receptor|aryl hydrocarbon receptor|class E basic helix-loop-helix protein 76 protein-coding 1348641 AHRR aryl-hydrocarbon receptor repressor Dioxin is a teratogen that exerts its effects through the arylhydrocarbon receptor in conjunction with the receptor's binding partner, arylhydrocarbon receptor nuclear translocator. The protein encoded by this gene represses signal transduction by the arylhydrocarbon receptor by competing with the arylhydrocarbon receptor nuclear translocator for binding to the arylhydrocarbon receptor. Expression of the repressor is stimulated by the receptor/translocator heterodimer, thereby regulating receptor function through a negative feedback mechanism. In addition, the encoded protein can bind to nuclear factor kappa-B. [provided by RefSeq] 19501819,19380484,19251700,19137073,18676680,18632753,18565642,18172554,17980155,17890447,17559847,17513317,17244640,16344560,16084889,15758562,15474075,14702039,14672759,12777964,12477932,11835227,11423533,11393538,11181995,10574462,9887096,8889548,1070014,18029348,19170196,19625176,20237496,20378615,20453000 57491 DA863025,EU293605,NM_020731,AC010442,AC118458,AF293629,AF293639,CH471235,AB033060,AK090508,AK127977,AK314472,BC035358,BC121047,BC121048,BC151852,BC152406,BM682431,BX400426,DA051156 ABX89616,A9YTQ3,AAI60162,NP_065782,AAG33381,EAW50992,BAA86548,AAI51853,AAI52407 Hs.50823 AHH|AHHR|KIAA1234|MGC167813|MGC176630|bHLHe77 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 protein-coding 1346562 AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 1580863 20089831,20029029,12504007,17110338,16696853,15489334,12604615,12508121,12477932,11554768,11042152,10931946,17353931,18029348,20159553 10598 NM_012111,AF111168,CH471061,AF161440,AF164791,AJ243310,AK300766,AK313824,BC000321,BC007398,BG432594,CR594235,CR606034,CR608181,CR612927,CR616582,CR617792,CR618207,CR620829,CR623881 NP_036243,AAD09623,EAW81291,EAW81292,AAF29000,AAF80755,CAB45684,BAG62431,BAG36559,AAH00321,AAH07398,O95433 Hs.204041 AHA1|C14orf3|p38 activator of 90 kDa heat shock protein ATPase homolog 1 protein-coding 1316203 AHSA2 AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) 15570572,14739935,14702039,12604615,12504007,12477932,20190752 130872 NM_152392,AC016747,CH471053,AF542548,AK091998,AK092505,AK092817,AK123709,AL833813,BC030998,BC050395,BC063789,BC113671,BC117278,AA856729,AI636364,CR609529 NP_689605,AAY14686,EAX00002,EAX00003,EAX00004,EAX00005,EAX00006,EAX00007,EAX00008,EAX00009,AAQ09531,BAG52613,CAD38676,AAI13672,AAI17279,Q719I0,ADR82832 Hs.655602,Hs.644708 DKFZp564C236|FLJ34679|FLJ41715|Hch1 OTTHUMP00000159809|OTTHUMP00000202097|OTTHUMP00000202098|activator of 90 kDa heat shock protein ATPase homolog 2 protein-coding 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] 1580863,2313813,2313810,2313812,2313814,2313809,2313811,1625792,1625793,1625794 20575466,12203945,17474147,12153747,12773197,12725640,12642050,14718574,11922920,19453261,19358088,19194829,19151998,19110009,19031279,19029462,19016589,18728159,18633113,18612115,18364352,18337634,18335040,18334823,18316360,18286307,18281421,18089450,18085392,18065755,17960182,17889958,17882149,17851232,17702860,17611637,17557141,17318070,17303000,17062776,17010978,16968979,16898488,16740002,16567568,16335952,16318278,16117875,16113307,16046317,16024912,16002217,15931001,15917161,15882283,15806395,15599699,15592877,15589849,15489334,14760718,14667137,12914574,12754519,12665801,12556469,12477932,12207096,12071714,11788587,11439093,11415520,10947975,10550518,9322749,9003486,8940198,7906861,7736783,6833285,6803836,3944104,3924066,3474608,3356172,2760061,2645941,2054237,12140560,20436350,20374388,19478814,19602903,19615685,19672022,19681840,19857655,19857676,19896717,19910501,19931899,20015522,20019453,20031641,20091488,20150538,20299368,20379614,20453496,20533272,20576822,19913121,20605840,20628086,20806899,20546343,17207965,20660040 2313813,2313810,2313812,2313814,2313809,2313811,1625792,1625793,1625794 197 AAB29984 NG_011436,AB038689,AC068631,CH471052,D67013,AK292751,AK298447,AK303754,AK312969,BC048198,BC052590,CR590483,CR590880,CR590983,CR591986,CR592598,CR592800,CR593230,NM_001622,CR594465,CR595632,CR596937,CR597357,CR597818,CR597877,CR598024,CR598201,CR599688,CR599704,CR599822,CR600033,CR600361,CR600789,CR601258,CR601261,CR601414,CR601433,CR601952,CR602438,CR603843,CR603950,CR605962,CR605966,CR606330,CR606631,CR607355,CR607382,CR607622,CR608868,CR609106,CR609433,CR609460,CR611718,CR612049,CR612128,CR613180,CR613958,CR614059,CR614997,CR615277,CR615840,CR616075,CR616438,CR616558,CR616627,CR616960,CR619431,CR619823,CR622619,CR622687,CR622904,CR623461,CR626686,CR626745,D67012,DC362553,M16961 NP_001613,BAA92189,EAW78187,EAW78188,EAW78189,BAA22652,BAF85440,BAH12792,BAH14038,BAG35808,AAH48198,AAH52590,BAA22651,AAA51683,AAB29984,P02765,ADQ32184 Hs.324746 A2HS|AHS|FETUA|HSGA OTTHUMP00000210159|alpha-2-HS-glycoprotein|alpha-2-Z-globulin|ba-alpha-2-glycoprotein|fetuin-A protein-coding 1354128 AIC Aicardi syndrome 192 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] 1580863,1598906 17066440,17060445,16999936,16785531,16705187,16624806,16541139,16439679,16387847,16381901,16314506,16269615,16122802,15949042,15944282,15814733,15613101,15593119,15489336,15489334,15448152,15372234,15371439,15304391,15252444,15195091,15182647,15148397,15087440,15061213,20117026,20338830,20855884,20864035,18722174,10950930,11007475,19443686,19412186,19380635,19363484,19336552,19309412,19266080,19247692,19196959,19139166,19023113,19017972,18940926,18776814,18772346,18760480,18757891,18417471,18391550,18390709,18329947,18306229,18213388,17878393,17638864,17485517,17161027,17132718,14990977,14536088,12973929,12928399,12873980,12855567,12799424,12715918,12683974,12651944,12521993,12511417,12477932,12202747,12114543,12097915,12011459,11823785,11544457,11256614,11112359,11076863,16580072,14769937,14551145,20491788,16251902,19057669,19561087,19573080,19575287,19578742,19667096,19703021,19732723,19734146,19741596,19773279,19859091,19898425,19911124,19966806,20027182,20048284,20118283,20233972,20237496,20237507,20373075,20379614,20729863,20637757,20974684,21041454,21048031,20507984 1598906 57379 NM_020661,NG_011588,AB040430,AB092577,AC092184,CH471116,CS056120,AB040431,AF529815,AF529816,AF529817,AF529818,AF529819,AF529820,AF529821,AF529822,AF529823,AF529824,AF529825,AF529826,AF529827,AJ577811,AY534975,AY536516,AY536517,AY541058,AY748364,BC006296,BT007402,BX402063,CR615215,DQ431660,HH794616 NP_065712,BAB12720,BAC66114,EAW88615,CAI75242,BAB12721,AAM95402,AAM95403,AAM95404,AAM95405,AAM95406,AAM95407,AAM95408,AAM95409,AAM95410,AAM95411,AAM95412,AAM95413,AAM95414,CAE12261,AAS90604,AAS92920,AAS92921,AAS98257,AAU95780,AAH06296,AAP36066,ABD92700,Q546Y9,Q5XM85,Q6QHI9,Q6QJ80,Q6QJ81,Q6QLN7,Q7Z599,Q86WB9,Q8NFB5,Q8NFB6,Q8NFB7,Q8NFB8,Q8NFB9,Q8NFC0,Q8NFC1,Q8NFC2,Q8NFC3,Q8NFC4,Q8NFC5,Q9GZX7,CAL38484,ABM83915,ABM87236,CBX87165 Hs.149342 AID|ARP2|CDA2|HIGM2 activation-induced cytidine deaminase|cytidine aminohydrolase|integrated into Burkitt's lymphoma cell line Ramos protein-coding 1603969 AIDA axin interactor, dorsalization associated 17681137,16344560,14702039,12477932,9110174,8619474 64853 NM_022831,AL392172,AL592148,CH471059,AF131838,AK022868,AK289865,AL833718,BC015535,BC043142,BC067805,BC171848,BG705886,DA483113,AK301870 NP_073742,CAH73929,CAH73930,CAI40463,CAI40464,EAX06366,BAB14281,BAF82554,CAH56257,AAH15535,AAH43142,AAH67805,AAI71848,Q96BJ3,BAH13571 Hs.156625,Hs.534965 C1orf80|FLJ12806|FLJ32421|RP11-378J18.7 OTTHUMP00000035774|axin interaction partner and dorsalization antagonist|axin interactor, dorsalization-associated protein protein-coding 1345176 AIED Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) 198 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] 2313020,2313027,2313032,2313037,2313043,2313025,2313026,2313038,2313039,2313199,2313033,2313024,2313029,2313041,1580863,2313021,2313022,2313023,2313028,2313030,2313034,2313035,2313036,2313040,2313042,2313045 9614071,8912632,19204726,19079260,18987644,18835879,18816612,18787073,18721278,18341653,17907195,17533487,17522098,17498268,17073733,17035944,17011575,17010532,16868985,16291819,16049345,15922740,15784173,15489334,15117732,14756805,14656967,14574404,12887599,12714565,12559634,12477932,11943136,11500035,20662065,10202016,8629302,8499947,7769138,18699778,19745784,19851445,20237496,20587610,20855536 2313020,2313027,2313032,2313037,2313043,2313025,2313026,2313038,2313039,2313199,2313033,2313024,2313029,2313041,2313021,2313022,2313023,2313028,2313030,2313034,2313036,2313040,2313042,2313045 199 NM_001623,NM_032955,AF129756,AL662801,AL662847,AL805934,BA000025,BX248305,CH471081,NM_004847,CR753892,CR759761,Y14768,AF088038,AF299327,AK290771,BC009474,CB215777,CD521003,CR542153,D86438,DB502939,EF070982,EF070983,U19713,U49392,U95213 NP_004838,NP_001614,NP_116573,AAD18087,CAI18308,CAI18311,CAM25588,CAI17694,CAI17697,CAO72101,CAI18495,CAI18497,CAO03652,BAB63392,CAI95573,CAI95575,CAM26281,EAX03442,EAX03443,EAX03444,EAX03445,EAX03446,EAX03447,CAQ06957,CAQ06958,CAQ10843,CAQ10844,CAA75060,CAA75061,CAA75062,AAG39110,BAF83460,AAH09474,CAG46950,BAA13088,ABK35646,ABK35647,AAB05003,AAA92457,AAC24422,O43904,P55008,Q4V347,Q9UIV4,ACE87756,ACE87076 Hs.76364 AIF-1|IBA1|IRT-1|IRT1 allograft inflammatory factor 1|interferon gamma responsive transcript|ionized calcium-binding adapter molecule 1|protein G1 protein-coding 1312901 AIF1L allograft inflammatory factor 1-like 737633 11256614,18699778,16381901,15489336,15489334,15164053,14702039,12975309,12477932,11230166,11076863,8889548,16344560,20237496 737633 83543 AL157938,CH471090,AK022845,AK027181,AK057789,AK091912,AK128526,AK300473,AK314600,AL136566,AL833896,NM_031426,BC009826,BC021253,BM975905,CR601218,AY359067,BI766795,DA285481,NM_001185095,NM_001185096,NR_033701 NP_113614,CAI41102,CAI41103,CAI41104,CAI41105,CAI41107,CAO72071,EAW87958,EAW87959,BAB14269,BAC03770,BAC87480,BAH13291,BAG37171,CAB66501,CAD38752,AAQ89426,AAH21253,Q5JUP1,Q5JUP3,Q9BQI0,CAL37731,CAL38179,CAL38735,NP_001172024,NP_001172025 Hs.4944 C9orf58|FLJ12783|IBA2|MGC29466 OTTHUMP00000022387|OTTHUMP00000022388|OTTHUMP00000022390|allograft inflammatory factor 1-like|ionized calcium binding adapter molecule 2|ionized calcium-binding adapter molecule 2 protein-coding 731380 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells that 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 effects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Several alternative transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq] 1580863 9989411,16713569,17353931,19418225,19197367,18821579,18806756,18593521,18306460,18056262,17709377,17603079,17560018,17492772,17471535,17352692,17347867,17107772,17094969,16729031,16644725,16628003,16365034,16344560,16049016,15772651,15729291,15703386,15526035,15489334,15316071,15286713,15182854,14716299,14585540,12930708,12668724,12629154,12535654,12477932,12198487,12022952,11533664,11279485,10913597,10744629,9892620,9206994,9110174,8619474,1202295,16511342,12404120,15033690,11193032,17967870,16169070,20228227,15775970,17148452,19064571,19578750,19598027,19723031,19723032,19781850,20177052,20362274,17822623,19913121,20628086 9131 NM_145812,NM_145813,NM_004208,NM_001130847,NM_001130846,AL139234,CH471107,AF100928,AF131759,AK000775,AK314446,AL049703,AL049704,AY795556,AY795557,BC111065,BC139738,BM807180,CR457379,CR606178,CR607158,DB119488,DQ016496,DQ016498,DQ016500,DA624842,NG_013217 NP_665812,NP_665811,NP_004199,NP_001124319,NP_001124318,CAI42778,CAI42779,CAI42780,EAX11810,EAX11811,EAX11812,AAD16436,AAD20036,BAG37055,CAB41267,CAB41268,AAV54053,AAV54054,AAI11066,AAI39739,CAG33660,AAY84737,AAY84739,AAY84741,O95831,Q1L6K4,Q1L6K6,Q2QKE4,Q5RZ99,Q5RZA0 Hs.424932 AIF|COXPD6|MGC111425|PDCD8 apoptosis-inducing factor 1, mitochondrial|programmed cell death 8 (apoptosis-inducing factor)|striatal apoptosis-inducing factor protein-coding 1312709 AIFM2 apoptosis-inducing factor, mitochondrion-associated, 2 The protein encoded by this gene has significant homology to NADH oxidoreductases and the apoptosis-inducing factor PDCD8/AIF. Overexpression of this gene has been shown to induce apoptosis. The expression of this gene is found to be induced by tumor suppressor protein p53 in colon caner cells. 1580863 20877624,20635389,15958387,11980907,12135761,17711848,17347867,15489334,15273740,15164054,14702039,12477932,10441517,15342556,19270026 84883 NM_032797,AL731540,CH471083,AF337957,AF506757,AK027403,AK127353,BC006121,BC023601,BX537621,CR622972,AI922797,BG332787,BP331371,NM_001198696 NP_116186,CAI13684,EAW54376,AAL73229,AAM77596,BAB55089,BAG54492,AAH06121,AAH23601,CAH56481,Q9BRQ8,ABM84018,ABM87363,NP_001185625 Hs.655377 AMID|DKFZp686L1298|PRG3|RP11-367H5.2 5430437E11Rik|apoptosis-inducing factor (AIF)-homologous mitochondrion-associated inducer of death|apoptosis-inducing factor (AIF)-like 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 protein-coding 1604991 AIFM3 apoptosis-inducing factor, mitochondrion-associated, 3 15764604,19166416,16344560,16001080,15790807,15489334,15461802,14702039,12477932,20877624,18029348,18482256 150209 NM_001018060,NM_001146288,NR_027464,AC002470,CH471176,AK055035,AK094844,AK126917,AK295581,AK316042,AY927574,AY927594,BC032485,BQ028401,NM_144704,CR456342,CR617219,CR626811,DA396585,DB172173 CAK54484,CAK54783,NP_653305,NP_001018070,NP_001139760,EAX02924,EAX02925,EAX02926,EAX02927,EAX02928,EAX02929,EAX02930,EAX02931,BAB70841,BAC04434,BAH12112,BAH14413,AAH32485,CAG30228,Q96NN9 Hs.723246 AIFL|FLJ30473|FLJ45137 OTTHUMP00000198534|OTTHUMP00000198535|OTTHUMP00000198536|apoptosis-inducing factor 3|apoptosis-inducing factor like|apoptosis-inducing factor-like protein protein-coding 1346084 AIG1 androgen-induced 1 1580863 15489334,14702039,14574404,12477932,11266118,10810093,9373149,8125298,20379614 51390 NM_016108,AL023581,AL136116,AL391726,AL450335,CH471051,AF151861,AF153605,AJ420480,AK001347,AK222475,AK298533,BC009559,BC025278,BF725860,BX538067,BX640703,CR594659,CR604536 NP_057192,CAI21389,CAI21390,CAI21391,CAI21392,CAI21393,CAI21394,CAI23449,CAI23450,CAI23451,CAI23452,CAI23455,CAI16928,CAI16929,CAI16930,CAI16931,CAI16932,EAW47869,EAW47870,AAD34098,AAD41087,BAA91640,BAD96195,BAG60734,AAH25278,CAD97997,CAE45823,Q53HV5,Q5T2H0,Q5T2H3,Q5T2H4,Q5THU2,Q9NVV5,ABM84217,ABM87621 Hs.567501 AIG-1|DKFZp686F03136|FLJ10485|RP1-95L4.1|dJ95L4.1 OTTHUMP00000017324|OTTHUMP00000017325|OTTHUMP00000017327|OTTHUMP00000017328|androgen induced protein (AIG-1), C-terminus truncated|androgen-induced gene 1 protein protein-coding 1348070 AIH2 amelogenesis imperfecta 2, hypocalcification (autosomal dominant) 200 1346253 AIH3 amelogenesis imperfecta 3, hypomaturation or hypoplastic type 1358807 201 1318513 AIM1 absent in melanoma 1 1580863 19194464,18582473,17434096,16511323,14702039,14574404,12693952,12477932,10737800,9096375,8700511,1680551,19910543,20379614 202 NM_001624,AL359292,AL390074,CH471051,U83116,AA574200,AI765826,AK025693,AK056705,AK125137,AK297008,AK300443,AK316287,BC062788,BF743639,CR600498,CR601872,CV573838,U83115,HA637632 NP_001615,CAC44021,CAI21046,CAH72091,EAW48412,EAW48413,AAB53792,BAG51792,BAG54152,BAG59543,BAG62166,BAH14658,AAH62788,AAB53791,Q6P5P8,Q96QW7,Q9Y4K1,AAI56647,CAZ39538 Hs.724262,Hs.643590 CRYBG1|ST4 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 1318501 AIM1L absent in melanoma 1-like 17672918,16710414,16344560,15203218,14702039,12477932,9716656,8401585 55057 NM_001039775,AL451139,CH471059,AK000902,AK095339,AL137264,BC136870,CD628848,DA439029,DR004727,CD628851,DA456217 NP_001034864,CAI15847,CAI15850,CAI15852,EAX07819,BAA91416,BAC04533,CAB70663,AAI36871,Q8N1P7,Q9NTH7,Q9NWG5 Hs.128738 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 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] 1580863 18029348,9242382,19158676,19158675,17726700,16710414,16432157,15582594,15076139,12477932,10828447,9865494,20595294,19293232,19795419,20401524 9447 NM_004833,AL359753,CH471121,AF024714,AK292042,BC010940 NP_004824,CAI15087,CAI15089,EAW52795,AAB81613,BAF84731,AAH10940,O14862,Q5T3V8,Q5T3W0,CAI15088 Hs.281898 PYHIN4 interferon-inducible protein AIM2 protein-coding 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] 724676,1580021,1580863 11741979,11306575,7545917,9405472,14500886,21092922,11714285,12819782,16055448,19565673,19573982,19917687,20332099,8052601,8078941,8188258,8449960,9278442,9368021,20510162,20413730,20429837,19002109,18951814,18621627,17443684,17303557,17051333,17018011,16674941,16615114,16344560,15935955,15489334,14982944,14702039,14688335,14588117,12729910,12543078,12477932,12161535,11157763,10852899,10409428,10358004,9878398,7929199,1400342,15857508,18448069,19362550 724676,1580021 9255 NM_001142415,NM_004757,NM_001142416,AC093680,CH471057,AK095951,AK297950,AK303965,BC014051,BG941396,BI258927,BM314663,BQ447202,CR542281,CR602436,CR604744,CR624995,DA211424,DC358150,U10117 NP_001135887,NP_004748,NP_001135888,EAX06203,EAX06204,BAG53174,BAG60265,BAG64889,AAH14051,CAG47076,AAA62202,Q12904,ABM84225,ABM87736 Hs.591680 EMAP2|EMAPII|SCYE1|p43 ARS-interacting multifunctional protein 1|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) protein-coding 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] 16049031,16135753,16714300,16189514,18695251,18676680,16125937,15489334,12853948,12819782,12783850,12729910,12690205,12477932,10913161,9878398,8666379,1651330,600859,15479637,11714285,16055448,17512523,19060904,19170196,19625176,19692168,8052601,8078941,8188258,8449960,9278442 7965 NM_006303,AC005995,CH236963,CH878731,AF116615,AK313037,BC002853,BC010156,BC013630,CR590372,CR592412,CR596215,CR600328,CR609344,CR623969,U24169 NP_006294,AAS00389,EAL23713,EAW55053,EAW55054,AAF71039,BAG35870,AAH02853,AAH10156,AAH13630,AAC50391,Q13155 Hs.520205,Hs.301613 JTV-1|JTV1|P38|PRO0992 ARS-interacting multi-functional protein 2|JTV1|OTTHUMP00000201310|OTTHUMP00000201311|aminoacyl tRNA synthase complex-interacting multifunctional protein 2|multisynthase complex auxiliary component p38|multisynthetase complex auxiliary component p38|protein JTV-1 protein-coding 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] 1580863 9447995,14557246,8972861,18029348,19474519,19375531,19188737,18710468,18628514,18484068,18381572,17916996,17914118,20029029,20506337,17893251,17613551,17609395,17360484,17341560,17299063,17244780,17242703,17018653,16936638,16807248,16728643,15592455,15489334,14730974,12837759,12721663,12482853,12477932,12361709,12065584,12036304,11805120,11259606,11013261,10986286,10690880,9837941,9111057,9083006,8889548,7961671,20211142,21208107,20530095,20634891,20685857,12810716,16257957,17329248,18410548,19366855,19556287,19684062,19794292,19883897,19910549,20507346 9049 NM_003977,NG_008969,AM236341,AP001184,AP003419,CH471076,BC104797,BC104827,BG821308,BU689235,CN480874,CR591514,CR593870,CR594744,CR600563,CR600666,CR601003,CR601190,CR601849,CR604495,CR604647,CR607044,CR618527,CR620315,CR621665,CR623440,U31913,U78521,EF203238,GQ847771 NP_003968,CAJ85657,EAW74637,AAI04798,AAI04828,AAB39923,AAB59004,O00170,ABZ92142,ABO16001,ACX54433 Hs.412433 ARA9|FKBP16|FKBP37|SMTPHN|XAP2 AH receptor-interacting protein|HBV X-associated protein 2|HBV-X associated protein|XAP-2|aryl hydrocarbon receptor-interacting protein|aryl-hydrocarbon receptor interacting protein|aryl-hydrocarbon receptor-interacting protein|immunophilin homolog ARA9 protein-coding 735610 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. [provided by RefSeq] 1599003,70801,1580863 20801516,14555765,10615133,12374762,18408180,16272259,15489334,15469903,15365173,15347646,15249368,15180275,15081406,14702039,12477932,11929855,11548141,10331942,8889548,19753312,19959640,20042464 1599003,70801 23746 AJ830742,AJ830743,AK023970,AK314558,BC007994,BC012055,BE778451,BM685943,BX537907,BX647279,BX953335,NM_001033055,NM_001033054,NM_014336,NG_008474,AC055872,AF180472,CH471108,AF038437,AF148864,AF525970,AJ633677,AJ633678 CAH25995,CAH25996,BAB14744,BAG37143,AAH12055,CAD97892,Q659W3,Q659W4,Q6ZZB5,Q6ZZB6,Q71V08,Q7Z3H1,Q8N6A0,Q9NZN9,ABM83186,ABM86388,CAG17883,NP_001028227,NP_001028226,NP_055151,AAF26708,EAW90310,EAW90311,EAW90312,EAW90313,EAW90314,EAW90315,AAQ13422,AAF74023,AAM88405,CAG17882 Hs.279887 AIPL2|LCA4 aryl hydrocarbon receptor-interacting protein-like 1|aryl-hydrocarbon-interacting protein-like 1 protein-coding 1322440 AIRE autoimmune regulator This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CBP. At least three splice variant mRNAs products have been described including one which results in a premature stop codon and a transcript predicted to be a candidate for nuclear-mediated decay (NMD). Defects in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). [provided by RefSeq] 2306853,1599008,1580863 17474147,9398839,9398840,19322061,19265170,19264985,19261265,19209622,19124002,19863576,20218732,18616774,18616706,18682433,18606876,18600308,18568643,18461357,18324482,18320920,18292755,18200029,18194361,18083234,17997173,17974569,17938200,17928069,17850514,17697502,17687331,17675238,17323409,17220063,17118990,17101293,16890195,16774540,16552513,16313305,16310047,16246524,16114041,15964547,15894121,15886230,15712268,15696198,15649886,15482854,15157567,15150263,14974083,14734522,12651856,12625412,12542742,12477932,12173302,12050215,11836330,11803052,11600535,11533054,11524733,11524731,11298085,11275943,11274163,10830953,10748110,10677297,9931335,9931333,9888391,9735375,9717837,9267805,7987397,12929931,19328411,19446523,19744957,19758376,19807739,19811436,20085707,20093495,20140861,20185822,20226168,20363194,20602615,20718774,20734064,21048031 2306853,1599008 326 NM_000383,NM_000658,NG_009556,AB006684,AJ009610,AP001060,AP001754,CH471079,AB006682,AB006683,AB006685,AK309572,BC137268,BC137270,BC142608,Z97990 NP_000374,NP_000649,BAA23990,BAA23991,BAA23992,CAA08759,BAA95560,EAX09441,EAX09443,BAA23988,BAA23989,BAA23993,AAI37269,AAI37271,CAB10790,O43918 Hs.129829 AIRE1|APECED|APS1|APSI|PGA1 OTTHUMP00000109529|autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein|autoimmune regulator|autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) protein-coding 2306132 AIRN antisense of IGF2R RNA (non-protein coding) 19008856,18789384,11329013 100271873 AW008515,BG216164 AIR|IGF2R-AS|IGF2RAS|NCRNA00088 miscrna 1349404 AIS1 autoimmune susceptibility 1 11912181,12707860 373071 1346674 AIS2 autoimmune susceptibility 2 14691733 378426 1342580 AIS3 autoimmune susceptibility 3 (vitiligo specific) 14691733 378427 1603390 AJAP1 adherens junctions associated protein 1 19240061,18485053,17267690,16707570,16410724,14595118,12477932,9110174,8619474,19515834,19850283 55966 NM_018836,NM_001042478,AL023586,AL391808,CH471130,Z98886,AF052143,AF175409,AL049672,AL049673,AY282806,BC041648 NP_061324,NP_001035943,CAI20566,CAH72438,EAW71504,CAI22750,AAD53278,CAB41245,CAB41246,AAP35025,Q9UKB5,AAI60124 Hs.25924 MOT8|RP3-426F10.1|SHREW-1|SHREW1 adherens junction associated protein 1|adherens junction-associated protein 1|membrane protein shrew-1|transmembrane protein SHREW1 protein-coding 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] 1300280,1300048,1300279,1580863,1601154 2542324,211388,17353931,18029348,19165527,18850517,18404568,16714292,16344560,15489334,12649162,12477932,12432079,12124227,10557075,10233365,9504408,9373149,8125298,7947281,6305188,3024483,2541064,183954 1300280,1300279,1601154 203 BC036803,BC100022,BT019580,CR541977,CR542004,DA077967,NG_011792,AL157935,CH471090,J04809,AB021871,AK223501,AK313758,BC001116,NM_000476 AAI00023,AAV38387,CAG46775,CAG46801,P00568,Q53EY8,Q5T9B7,Q6FGX9,ABM83502,ABM86718,NP_000467,CAI12606,CAI12607,CAI12608,EAW87706,EAW87707,EAW87708,EAW87709,AAA51686,BAA78534,BAD97221,BAG36497,AAH01116 Hs.175473 AK 1|ATP-AMP transphosphorylase 1|OTTHUMP00000022220|OTTHUMP00000216413|adenylate kinase isoenzyme 1|myokinase protein-coding 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. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1300048 20877624,9504408,6182143,19043417,19043416,18404568,17952061,16710414,15862967,15489334,14702039,12477932,10218571,9434148,8843353,6961883,195572,17643375,16344560 204 NM_001625,AL020995,CH471059,AB005621,AB005622,AB451267,AB451394,AK023758,AK291676,AK295105,AK296863,AK297036,AK307731,AY080899,AY080900,BC009405,BC026705,BC070127,BC090040,BX504559,CR590067,CR594112,CR596376,NM_013411,CR596653,CR605326,CR606091,CR606245,CR607055,CR608413,CR609421,CR615469,CR616468,CR616874,CR620027,CR621972,CR623201,U39945,U54645,U84371,NG_016269,DB206302,DC422465,NM_001199199,NR_037591,NR_037592 NP_037543,NP_001616,CAI19351,CAI19352,EAX07483,EAX07484,EAX07485,EAX07486,BAC16747,BAC16748,BAG70081,BAG70208,BAF84365,BAG58139,BAG59426,BAG59564,AAL87027,AAL87028,AAH09405,AAH70127,AAH90040,AAC52061,AAC13881,AAB41790,P54819,NP_001186128 Hs.470907 ADK2|AK 2 AK 2|ATP-AMP transphosphorylase 2|adenylate kinase 2, mitochondrial|adenylate kinase isoenzyme 2, mitochondrial protein-coding 1626587 AK2P1 adenylate kinase 2 pseudogene 1 10092943 266920 NG_002393,AF056332,AL035411 AK2B pseudo 1626554 AK2P2 adenylate kinase 2 pseudogene 2 339736 NG_009660,AL121652 pseudo 737588 AK3 adenylate kinase 3 1300048,1580863 10544043,16344560,15489334,15164053,14702039,12477932,11485571,182062,19820697,20877624,218813 50808 BI550730,BI601245,DA570364,DA718987,NG_028041,NM_001199852,NM_001199853,NM_001199854,NM_001199855,NM_001199856,NM_016282,AL136231,AL353151,CH471071,AB021870,AF086913,AF100785,AF183419,AK001553,AK001951,AK027534,AK098205,AK124824,AK298200,BC013771,BX640794 NP_001186781,NP_001186782,NP_001186783,NP_001186784,NP_001186785,NP_057366,CAI41260,CAI41262,CAH72282,CAH72283,EAW58779,EAW58780,EAW58781,BAA87913,AAP97143,AAP97224,AAG09688,BAA91753,BAA91996,BAB55183,BAG53592,BAG54101,BAG60470,AAH13771,Q7Z4Y4,Q7Z531,Q9HC01,Q9UIJ7,ABM82586,ABM85773 Hs.727617 AK3L1|AK6|AKL3L|AKL3L1|FIX AK 3|GTP:AMP phosphotransferase mitochondrial|GTP:AMP phosphotransferase, mitochondrial|OTTHUMP00000021015|adenylate kinase 3 alpha like|adenylate kinase 3 alpha-like 1|adenylate kinase 3 like 1|adenylate kinase 6, adenylate kinase 3 like 1 protein-coding 1606591 AK3L1 adenylate kinase 3-like 1 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] 19073142,15489334,12477932,11485571,10544043,9813319,9504419,7140357,1639383,182062,16341674,16344560,19766732,20379614 205 NM_001005353,NM_013410,AC099680,AL356212,CH471059,AK025926,AK026966,AK309057,AK313611,BC016180,BC040224,BC066944,BC136886,BC136887,BC146653,BC148270,BF205061,BM763432,BU164554,CR456830,X60673,NM_203464,BG703687,DB061266,DR003868 CAA43088,P27144,ABM83220,ABM86420,NP_982289,NP_001005353,NP_037542,CAI22412,EAX06538,EAX06540,EAX06544,BAG36374,AAH16180,AAH40224,AAH66944,AAI36887,AAI36888,AAI46654,AAI48271,CAG33111 Hs.10862 AK3|AK3L1|AK3L2|AK4|MGC166959 ATP-AMP transphosphorylase|GTP:AMP phosphotransferase|adenylate kinase 3-like 1|adenylate kinase isoenzyme 4, mitochondrial|mitochondrial adenylate kinase-3|nucleoside-triphosphate-adenylate kinase protein-coding 1605795 AK3L2 adenylate kinase 3-like 2 387851 NM_001002921,AC099680,AL356212,CR456830 NP_001002921,CAG33111,Q6IBH4 Hs.10862 AK3 protein-coding 1349421 AK3P1 adenylate kinase 3 pseudogene 1 1639383 206 NG_001070,AC134669,X60674 AK3P1 pseudo 4144669 AK3P4 adenylate kinase 3 pseudogene 4 100129959 AADB02009286,ABBA01069033,AC091981 pseudo 4144672 AK3P5 adenylate kinase 3 pseudogene 5 100288319 AL365203,NG_022166 pseudo 4144712 AK4P2 adenylate kinase 4 pseudogene 2 100132104 AC008784,AC025777,NG_021849 pseudo 4144715 AK4P4 adenylate kinase 4 pseudogene 4 100128705 AL365360,NG_021605 pseudo 4145468 AK4P5 adenylate kinase 4 pseudogene 5 100526416 AL591135,NG_027847 KIAA1424 pseudo 4144674 AK4P6 adenylate kinase 4 pseudogene 6 649288 AC079794,NG_022085 pseudo 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] 1580863 10215863,15489334,14702039,12477932,16169070,19647735,20379614,18029348 26289 NM_174858,NM_012093,AC093433,AC093575,AC095030,CH471059,AF062595,AF445193,AK090967,AY171600,BC012467,BC033896,BC036666,CR541890,AW665223,DN993295 NP_777283,NP_036225,EAX06377,EAX06378,EAX06379,AAD27956,AAP97322,BAC03558,AAO16520,AAH12467,AAH33896,AAH36666,CAG46688,Q8N291,Q9Y6K8 Hs.559718,Hs.597002 AK6|MGC33326 AK 5|ATP-AMP transphosphorylase 5|adenylate kinase 6|adenylate kinase isoenzyme 5 protein-coding 1320025 AK7 adenylate kinase 7 1580863 15489334,14702039,12508121,12477932,20379614,20537283 122481 NM_152327,AL163051,AL359240,CH471061,AK057426,BC023986,BC035256 NP_689540,EAW81636,EAW81637,EAW81638,EAW81639,EAW81640,BAB71480,Q96M32,ABM82637,ABM85814 Hs.667462 FLJ32864 putative adenylate kinase 7 protein-coding 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] 2312475,2312477,2313128,1580863 8769136,12223483,18029348,19074462,18786546,18625701,17884635,16344560,15489334,15302935,15143158,14759258,12697839,12634056,12477932,12414807,11807172,11546661,11483602,10995432,10764601,18323779,19615732,10352013,9238861,9065479,7499250,10413680,20877624,20308539,20677014 2312475,2312477,2313128 8165 AC007114,CH471109,AF015910,AK292416,AK297810,AK308397,BC000729,CR594012,DA455114,U34074,X97335,NM_003488 ABW03447,NP_003479,EAW94515,EAW94516,EAW94517,EAW94518,AAB64298,BAF85105,BAG60148,AAH00729,AAC50279,CAA66000,O15113,Q92667,ABM84528 Hs.463506 AKAP|AKAP121|AKAP149|AKAP84|D-AKAP1|MGC1807|PRKA1|SAKAP84 A kinase anchor protein 1, mitochondrial|A-kinase anchor protein 1, mitochondrial|A-kinase anchor protein 149 kDa|A-kinase anchor protein, 149kD|AKAP 149|D-AKAP-1|a kinase anchor protein 1, mitochondrial|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|spermatid A-kinase anchor protein 84 protein-coding 70080 AKAP10 A kinase (PRKA) anchor protein 10 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 interacts with both the type I and type II regulatory subunits of PKA; therefore, it is a dual-specific AKAP. This protein is highly enriched in mitochondria. It contains RGS (regulator of G protein signalling) domains, in addition to a PKA-RII subunit-binding domain. The mitochondrial localization and the presence of RGS domains may have important implications for the function of this protein in PKA and G protein signal transduction. [provided by RefSeq] 1580863,2312475,2312477 9326583,19496216,19209010,19056482,17786291,17485678,17143557,16956908,15489334,15488188,14531806,12646697,12477932,12206784,11807172,11248059,9238861,7505766,16189514,18029348,20877624,19462906,19578796,19797056,19857670,20159461,20453000 2312475,2312477 11216 NM_007202,NG_011493,AC005730,CH471212,AF037439,AK295180,AK308297,AK312438,BC017055,DQ270159,U00957 NP_009133,EAW50913,AAB92260,BAH12002,BAG35347,AAH17055,ABB76684,O43572,Q2XPN4,ABM82403,ABM85592 Hs.642676 D-AKAP2|MGC9414|PRKA10 A kinase anchor protein 10, mitochondrial|A-kinase anchor protein 10, mitochondrial|AKAP-10|D-AKAP-2|a kinase anchor protein 10|a kinase anchor protein 10, mitochondrial|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 protein-coding 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] 632175,1580863,2312475,2312477,2312637 10209101,17353931,15057823,14702039,12168954,12147701,11823486,11807172,11152471,10864471,9734811,9238861,8621616,12672969,19801982 632175,2312475,2312477,2312637 11215 NM_016248,AL136527,CH471075,AB014529,AF176555,AK002166,AK074384,CR627087 NP_057332,CAB89419,EAX08676,EAX08677,BAA31604,AAF07045,BAA92117,CAH10362,Q6AI61,Q9UKA4,AAI56136,AAI72498 Hs.105105 AKAP220|DKFZp781I12161|FLJ11304|KIAA0629|PRKA11 A-kinase anchor protein 11|A-kinase anchor protein 220 kDa|A-kinase anchoring protein, 220kDa|AKAP-11|a kinase anchor protein 220 kDa|hAKAP220|protein kinase A anchoring protein 11|protein kinase A-anchoring protein 11 protein-coding 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] 2312475,2312477,1580863 20029029,21115911,10858453,18029348,19210988,18950703,18579430,18554502,18397319,18199717,17577780,17442832,17442483,17200117,17081983,17081159,16762919,16642035,16344560,15923193,15590635,15345747,15258566,14657015,12857743,12477932,11807172,11766078,11316952,11309381,9880537,9604001,9238861,9000000,1522245,20979053,19724895,19851296,20018890,20198315 2312475,2312477 9590 NM_005100,NM_144497,AL033392,AL356535,AL590413,CH471051,AB003476,AB210003,AF001504,AF086250,AK024598,AK307578,AK307673,AK307739,BC000188,BC015830,BC022814,BC033829,BC047728,BC070151,BC117679,BC117680,CN480611,CR749527,CR936604,DA055364,M96322,U81607,BC046095 NP_005091,NP_653080,CAI20467,CAI20468,CAI16151,CAI13590,CAI13591,EAW47753,EAW47754,EAW47755,BAA19927,BAE06085,AAB58938,AAH47728,AAH70151,CAH18338,CAI56750,AAA35931,AAC51366,Q02952,Q5CZB5,Q6NSG9,Q86TJ9,AAI56287,AAI57068 Hs.371240 AKAP250|DKFZp686M0430|DKFZp686O0331|FLJ20945|FLJ97621 A-kinase anchor protein 12|A-kinase anchor protein 250 kDa|A-kinase anchor protein, 250kDa|AKAP 250|AKAP-12|OTTHUMP00000017426|kinase scaffold protein gravin|myasthenia gravis autoantigen gravin protein-coding 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 at least 3 transcript variants encoding different isoforms containing a dbl oncogene homology (DH) domain and a pleckstrin homology (PH) domain. 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 and, in addition, function as protein kinase A-anchoring proteins. [provided by RefSeq] 2312475,2312477 11756498,12376548,12787561,19696020,19779964,19888694,19911011,19960345,20353833,20379614,18029348,20936779,1860836,1618839,16301118,17353931,8290273,9891067,18519826,18445682,18093280,17878165,17081983,16964243,16956908,16469733,16412732,16234258,15691829,15489334,15324660,15249197,15229649,14702039,14660653,14636890,12972258,12672969,12663445,12477932,12423633,12270917,11696353,11579095,11546812,11285229,11278452,9627117,7929081,15383279,20719862,20696764 2312475,2312477 11214 NM_006738,NM_144767,AC021739,AC087286,AC104046,AC110592,CH471101,AB055890,AB209414,AF086293,AF126008,AF387101,AF406992,AK022014,AK026186,AK091210,AK125331,AK307618,AK309805,AK315885,AL133426,AL133427,AL133429,AL133430,AL135297,BC000269,BC009213,BC017368,BC019662,BC040109,BC050312,BC063592,BC089394,BC140862,BC171798,CR596185,M90360,NM_007200 AAI72356,NP_009131,NP_006729,NP_658913,EAX01973,EAX01974,EAX01975,EAX01976,BAB62913,BAD92651,AAD21311,AAL40923,AAL11723,BAF98776,AAH50312,AAI40863,AAI71798,AAA58670,Q12802 Hs.459211,Hs.710656 AKAP-Lbc|ARHGEF13|BRX|FLJ11952|FLJ43341|HA-3|Ht31|LBC|PROTO-LB|PROTO-LBC|c-lbc A-kinase anchor protein 13|A-kinase anchoring protein|AKAP-13|LBC oncogene|breast cancer nuclear receptor-binding auxiliary protein|guanine nucleotide exchange factor Lbc|human thyroid-anchoring protein 31|lymphoid blast crisis oncogene|non-oncogenic Rho GTPase-specific GTP exchange factor|p47|protein kinase A-anchoring protein 13 protein-coding 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] 2312475,2312477 15489334,12477932,12475942,11329013 2312475,2312477 158798 NG_013218,NM_178813,NM_001008534,NM_001008535,AC002477,CH471161,AF514780,AF514781,AF514782,BC066357,BG208671 NP_848928,NP_001008534,NP_001008535,EAW89839,AAP20825,AAP20826,AAP20827,AAH66357,Q86UN6 Hs.592245 AKAP28 A-kinase anchor protein 14|A-kinase anchor protein 28 kDa|A-kinase anchoring protein 28|AKAP 28|AKAP-14|OTTHUMP00000023927|OTTHUMP00000023928|protein kinase A-anchoring protein 14 protein-coding 4143131 AKAP16B A kinase (PRKA) anchor protein 16B, pseudogene 17302988 139516 AC004835,NG_022632 pseudo 1312990 AKAP2 A kinase (PRKA) anchor protein 2 2312475,2312477 17474147,19893584,20306291,18978678,18649358,17081983,16344560,15146197,14702039,12477932,11478809,10231032,9497389,12646697,12672969,11181995 2312475,2312477 11217 CN302358,CX872067,DA564383,DB212465,DB287164,DC422367,N51499,NM_001136562,AL158823,AL353598,AJ420463,AK000306,AK022693,AK057098,AK300427,AK304311,BC010513,BC146863,BC171800,BE674805,NM_001004065,AK308388,AL110268,CH471105,CR594891,NM_001198656 Q9Y2D5,NP_001004065,NP_001130034,CAI39562,CAI40818,BAG51862,BAG62154,BAG65164,AAI46864,AAI71800,CAB53707,EAW59049,NP_001185585,EAW59050 Hs.591908,Hs.595524 AKAP-2|AKAPKL|DKFZp564L0716|FLJ53197|FLJ98336|PALM2|PRKA2 A-kinase anchor protein 2|AKAP-2|OTTHUMP00000210714|protein kinase A anchoring protein 2|protein kinase A-anchoring protein 2|protein kinase A2 protein-coding 1348905 AKAP3 A kinase (PRKA) anchor protein 3 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, and is expressed in testis only. The encoded protein contains an RII-binding domain, and is predicted to participate in protein-protein interactions with the R-subunit of the PKA. This protein is localized to the ribs of the fibrous sheath in the principal piece of the sperm tail. It may function as a regulator of both motility- and head-associated functions such as capacitation and the acrosome reaction. [provided by RefSeq] 2312475,2312477,1580863 10319321,17683036,16005946,15257753,14618620,12606363,12509440,12477932,11807172,11696326,11278869,10529264,10334916,9238861 2312475,2312477 10566 NM_006422,AC005832,CH471116,AF087003,AF093408,AK074722,AK292451,BC047535,U85715 NP_006413,EAW88840,AAC35854,AAC63371,BAG51992,BAF85140,AAH47535,AAD21218,O75969 Hs.98397 AKAP110|CT82|FSP95|PRKA3|SOB1 A-kinase anchor protein 110 kDa|A-kinase anchor protein 3|A-kinase anchor protein, 110kDa|AKAP 110|AKAP-3|Fibrous Sheath Protein of 95 kDa|cancer/testis antigen 82|fibrous sheath protein, 95kDa|fibrousheathin 1|fibrousheathin I|fibrousheathin-1|protein kinase A anchoring protein 3|protein kinase A-anchoring protein 3|sperm oocyte-binding protein 1 protein-coding 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] 2312475,2312477,1580863 9822690,12509440,17712481,17683036,15772651,15489334,12606363,12477932,11807172,11476771,9852104,9514854,9238861 2312475,2312477 8852 NM_003886,NM_139289,NG_012552,AL663119,CH471180,AF072756,AK292463,BC033007,BC070150,BC126250,BC126252,Y15195,HC006776,HC044697 NP_003877,NP_647450,CAI41557,CAI41558,CAI41559,CAI41561,EAW89924,EAW89925,EAW89926,AAC79433,BAF85152,AAI26251,AAI26253,CAA75494,Q5JQC9,CBH19194,CBH30678 Hs.97633 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|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 protein-coding 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] 2313287,2312475,2312477,2313290,2313247,1580863 17081159,18311135,12507994,12477932,12177200,12114507,12077483,11886862,11823486,11807172,11557526,11287423,11179200,10939335,10762347,10753752,10537145,10037748,9765270,9238861,9202019,8509414,7528941,1860836,1733921,1618839,20410303,20883492,1512224,18950703,18305116,17548344,16973443,16940053,16344560,15671033,12938160,12672969,12595241 2313287,2312475,2312477,2313290,2313247 9495 NM_004857,AL122035,CH471061,AK315336,BC057229,BC131516,DA942424,M90359 AAH57229,NP_004848,EAW80862,BAG37736,AAI31517,AAA58363,P24588,Q6PG46 Hs.656683 AKAP75|AKAP79|H21 A-kinase anchor protein 5|A-kinase anchor protein 79 kDa|A-kinase anchor protein, 79kDa|A-kinase anchoring protein 75/79|AKAP 79|AKAP-5|OTTHUMP00000174435|cAMP-dependent protein kinase regulatory subunit II high affinity binding protein|cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein protein-coding 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] 1580863,2312475,2312477,68716 10413680,10830164,7721854,15342556,14702039,12754202,12477932,12168954,11807172,11352932,11296225,9238861,9205841,12672969,20677014,19109240,21079607,17474147,20106966 2312475,2312477,68716 9472 NM_004274,AL049781,AL117672,AL132988,AL136298,CH471078,AB002309,AK094160,BC137232,BC137233,BC150185,BC150288,BC154413,BP230135,U17195 NP_004265,EAW65931,EAW65932,EAW65933,BAA20770,AAI37233,AAI37234,AAI50186,AAI50289,AAI54414,AAA92354,Q13023 Hs.509083 ADAP100|ADAP6|AKAP100|KIAA0311|MGC165020|PRKA6|mAKAP A-kinase anchor protein 100 kDa|A-kinase anchor protein 6|AKAP 100|AKAP-6|protein kinase A anchoring protein 6|protein kinase A-anchoring protein 6 protein-coding 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. Additional variants exist, but their full-length natures have not been determined. [provided by RefSeq] 2312475,2312477,2312630,1303982,1580863,2312656 17643375,19615732,20379614,9545239,10613906,18082768,17244820,15489334,14574404,12804576,12672969,12477932 2312475,2312477,2312630,1303982,2312656 9465 NM_016377,NM_138633,NM_004842,AL136110,BC141927,CR618092,AL137222,CH471051,AB451273,AB451400,AF152929,AF161075,AK290271,AK300587,AK311820,BC016927,BC063499,BC073847,BC094732,BC110897,BC118601,BC118606,BC128398,BC128399,BC141926,AL137063 NP_057461,NP_619539,NP_004833,CAI21507,CAI21508,CAI21509,AAI41927,AAI41928,O43687,Q2TAJ5,Q6P4D3,Q9P0M2,AAI52941,AAI56907,CAI19002,CAI19003,CAI19788,EAW48057,EAW48058,EAW48059,EAW48060,BAG70087,BAG70214,AAF28106,AAF26676,BAF82960,BAG62285,BAG34762,AAH16927,AAH63499,AAH73847,AAH94732,AAI10898,AAI18602,CAI19001,AAI18607,AAI28399,AAI28400 Hs.486483 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|protein kinase A anchoring protein 7|protein kinase A-anchoring protein 7 isoform gamma|protein kinase A-anchoring protein 7 isoforms alpha/beta protein-coding 731444 AKAP8 A kinase (PRKA) anchor protein 8 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 located in the nucleus during interphase and is distinctly redistributed during mitosis. This protein has a cell cycle-dependent interaction with the RII subunit of PKA. [provided by RefSeq] 2312475,2312477,1580863 9473338,18029348,17081983,16964243,16227597,15302935,15057824,14743216,14641107,12740381,12477932,12414807,11964380,11807172,11279182,10791967,10601332,9238861 2312475,2312477 10270 NM_005858,AC005785,AC093060,CH471106,AK308251,AK309529,AL050160,BC037270,Y11997,AK303640 NP_005849,AAC62838,EAW84474,CAB43301,AAH37270,CAA72722,O43823,Q8NE02,Q9UG73,BAH14004 Hs.726377 AKAP95|DKFZp586B1222 A-kinase anchor protein 8|A-kinase anchor protein 95 kDa|A-kinase anchor protein, 95kDa|AKAP 95|AKAP-8 protein-coding 1347470 AKAP8L A kinase (PRKA) anchor protein 8-like 1580863 10748171,17353931,18313049,10761695,17594903,16391387,15489334,15302935,14743216,14702039,12950172,12538639,12477932,12107412,11402034,11034899,10697960,9853615,9373149,8889548,8125298 26993 BM726437,BQ006924,BQ185989,BU740636,CD672169,AC005785,AC006128,CH471106,AB015332,AB025905,AB451326,AB451469,AF199414,AJ243467,AK001594,AK094736,AK225046,AK225291,AK295956,AK310990,AL133576,BC000713,BI458860,NM_014371 Q9UF73,Q9ULX6,ABM82779,ABM85969,NP_055186,EAW84475,EAW84476,EAW84477,EAW84478,BAA34791,BAA85003,BAG70140,BAG70283,AAF86048,CAB65092,BAG50946,BAG58736,CAB63723,AAH00713 Hs.399800 DKFZp434L0650|HA95|HAP95|NAKAP|NAKAP95 A-kinase anchor protein 8-like|AKAP8-like protein|helicase A-binding protein 95 kDa|homologous to AKAP95 protein|neighbor of A kinase anchoring protein 95|neighbor of A-kinase anchoring protein 95|neighbor of A-kinase-anchoring protein 95|neighbor of AKAP95 protein-coding 1349720 AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq] 631928,2312475,2312477,1580863 9482789,10390370,10202149,19242490,19086053,19073175,18334708,18093912,17352745,16741161,16356588,16339516,16198290,15670215,15630448,15047863,14982933,14702039,12853948,12690205,12477932,12270714,12221128,10862698,12163479,12036294,12015314,11799244,10945988,10358086,9915845,9872452,12672969,11076968,12852856,16462731,16980960,17148452,18029348,20106900,20231423,20379614,20453000,7790358 631928,2312475,2312477 10142 NM_147185,NG_011623,AC000066,AC000120,AC003086,AC004013,AJ010770,CH236949,CH471091,AB018346,AB019691,AF026245,AF083037,AF091711,AF247727,AJ131693,AK000270,AK025160,AK026444,AK057546,AK074869,AL117418,AY528715,BC015533,BC027455,BC040932,NM_005751,CR997756,BC062448 NP_005742,NP_671714,AAC60380,AAS07419,AAB96867,CAA09361,EAL24155,EAL24156,EAL24157,EAL24158,EAW76860,EAW76861,EAW76862,EAW76863,EAW76864,EAW76865,EAW76866,EAW76867,EAW76868,BAA34523,BAA78718,AAB86384,AAD22767,AAD39719,AAK51115,CAB40713,BAG52021,CAB55912,AAT44400,AAH15533,AAH40932,Q5GIA7,Q5IBP5,Q6PJH3,Q8IW64,Q96KG3,Q99996,Q9UFL2 Hs.651221 AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|KIAA0803|MU-RMS-40.16A|PRKA9|YOTIAO A-kinase anchor protein 350 kDa|A-kinase anchor protein 450 kDa|A-kinase anchor protein 9|AKAP 120-like protein|AKAP9-BRAF fusion protein|centrosome- and Golgi-localized PKN-associated protein|kinase N-associated protein|protein hyperion|protein kinase A anchoring protein 9|protein yotiao protein-coding 1604680 AKD1 adenylate kinase domain containing 1 12477932,11181995 401271 NM_001001706,NM_001146303,AL109947,AL121788,AL139391,CH471051,AK131244,BC087860 NP_001001706,NP_001139775,EAW48336,BAD18424,AAH87860,Q6ZNF1,AAI46444,AAI53056 Hs.205144 FLJ42177 protein-coding 1354002 AKD2 adenylate kinase domain containing 2 16344560,14702039,12477932 221264 NM_145025,NM_001145128,NG_007977,AL121788,AL133472,CH471051,AK055538,AK124171,AK315561,AL832162,BC022031,DA106296,DW009925 NP_659462,NP_001138600,CAI22498,CAI22499,CAI22500,CAI19667,CAI19668,EAW48333,EAW48334,EAW48335,BAB70945,BAG37937,AAH22031,Q5TCS8,Q5TDU3,ACE87212,ACE86533 Hs.486169 C6orf199|FLJ34784|FLJ42177|MGC26954|RP1-70A9.1|dJ70A9.1 protein-coding 1606232 AKIRIN1 akirin 1 16710414,15489334,14702039,12477932,9373149,8125298,18066067 79647 NM_024595,AL606465,CH471059,AK022728,AK092624,AK124799,AK126262,AK223276,AY326465,BC001498,BC119745,BC119746,AK298890,AK303098,DB727813,NM_001136275 NP_078871,CAI16710,EAX07283,EAX07284,EAX07285,BAB14208,BAD96996,AAR99515,AAI19746,AAI19747,Q6EHZ2,Q9H9L7,BAG61002,NP_001129747,BAG64208 Hs.293563 C1orf108|FLJ12666|RP11-781D11.2|STRF2 akirin-1 protein-coding 1317188 AKIRIN2 akirin 2 18066067,18460465,17081983,16189514,15489334,14702039,14574404,12477932,9373149,8125298 55122 NM_018064,AL133211,CH471051,CQ859732,AK001204,AK222701,BC000764,BC003042,BC005051,BM996262,CR599380,CR624811 NP_060534,CAI21541,EAW48578,CAH25916,BAA91551,BAD96421,AAH00764,AAH03042,AAH05051,Q53H80,Q9NW35 Hs.485915 C6orf166|FBI1|FLJ10342|dJ486L4.2 akirin-2|fourteen-three-three beta interactant 1 protein-coding 1317844 AKNA AT-hook transcription factor 15869410,14702039,12477932,11853319,11268217,19913121,20628086,20507260 80709 NM_030767,AL356796,CH471090,AB075848,AF286341,AK024431,AK055563,AK074040,AK090503,AK098036,AK126136,AK131082,AK160382,AL713755,AL833220,AY703039,AY703040,AY703041,AY703042,AY703043,AY703044,AY703045,AY703046,BC042202,BC055285 NP_110394,CAI16861,CAI16862,CAI16863,EAW87418,EAW87419,BAB85554,AAK83024,BAB15721,BAB84866,BAC85132,BAD18725,AAU34186,AAU34187,AAU34188,AAU34189,AAU34190,AAU34191,AAU34192,AAU34193,AAH42202,AAH55285,Q64FX5,Q64FX9,Q64FY0,Q64FY1,Q7Z591 Hs.494895 FLJ31001|FLJ33184|KIAA1968|RP11-82I1.4 AKNA transcript F2|AT-hook transcription factor AKNA|AT-hook-containing transcription factor|OTTHUMP00000021973|OTTHUMP00000021974 protein-coding 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. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq] 1300048 2498333,15231747,19423521,18676680,18495158,17149600,16543247,15769597,15489334,15299353,12477932,11716357,11444797,10510318,10486210,10393438,9693960,8405190,8268209,7827091,7669785,3615425,2113526,1901806,1602151,19170196,19625176,19692168,20453000,16344560 10327 NM_153326,AF036683,AF112482,AF112485,AL355480,CH471059,AK293083,AK307068,AK307237,NM_006066,AK307288,BC000670,BC005394,BC033287,BT007003,CR457010,CR593332,CR593548,CR598490,CR600290,CR604674,CR605893,CR606043,CR607253,CR613190,CR614844,CR616472,CR616743,CR617059,CR621968,J04794,AU142853,BI549149,BU631634,CX788871,DA550374,DA871469,NM_001202413,NM_001202414 NP_006057,NP_697021,AAB92369,AAF01260,CAI22458,CAI22459,EAX06970,EAX06971,EAX06972,EAX06973,EAX06974,BAF85772,AAH00670,AAH05394,AAP35649,CAG33291,AAA51711,P14550,Q5T621,ABM81608,ABM84696,ABM84791,NP_001189342,NP_001189343 Hs.474584 ALDR1|ALR|ARM|DD3|MGC12529|MGC1380 OTTHUMP00000009240|alcohol dehydrogenase|alcohol dehydrogenase [NADP+]|aldehyde reductase|aldo-keto reductase family 1 member A1|dihydrodiol dehydrogenase 3 protein-coding 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] 1300048,1580863,1626081,1626080,1626089,1626092,734542,1599728,1626082,1626083,1626084,1626087,1626088,1626079 8645003,2112546,17353931,8435445,19422879,19420105,18716049,18495158,18451330,18434430,18385795,17968325,17851230,17563730,17418233,17270157,17139089,17018629,16936152,16911628,16701918,16620264,16545977,16176189,16174723,16021519,15973199,15745835,15637423,15569136,15504980,15489334,15284221,15284219,15277434,15270790,15251463,15231748,15181092,15162486,14996095,14694018,14694017,14662023,14582038,12690205,12660865,12604221,12486717,12477932,12446366,11958479,11874426,11842041,11796181,11499839,11449315,11444797,11306081,11182213,11095596,10510318,10075698,9565553,9405046,9195951,8877273,8615700,8405190,8347133,8343525,8281941,8268209,8245005,8234324,7789640,6417042,2510130,2504709,2498333,2492527,2111143,1901857,1901827,1621098,1447221,18029348,21067489,21067572,20354121,15583024,19760097,19821053,16928730,19273550,19850041,20093363,20150532,20353610,20424224,19913121,20628086,19847669 1626081,1626080,1626089,1626092,734542,1599728,1626082,1626083,1626084,1626087,1626088,1626079 231 NM_001628,AC078847,AF032455,CH236950,CH471070,M34721,M59783,U72619,AB209796,AF328729,AK311339,AK313439,AL833410,BC000260,BC005387,BC010391,BT019859,CR450351,CR542203,CR591235,CR591599,CR592404,CR592719,CR593981,CR594672,CR595528,CR597034,CR600539,CR601476,CR602165,CR603262,CR607427,CR608857,CR609448,CR609712,CR610827,CR610878,CR610975,CR613806,CR614574,CR614916,CR615638,CR617008,CR617893,CR619588,CR620415,CR622029,CR622135,CR622659,CR625913,J04795,J05017,J05474,M34720,X15414,HH961838 NP_001619,AAB88851,EAL24070,EAW83814,EAW83815,AAA35561,AAA51712,AAB61992,BAD93033,AAN09721,BAG36230,AAH00260,AAH05387,AAH10391,AAV38662,CAG29347,CAG47000,AAA51713,AAA51714,AAA51715,AAA35560,CAA33460,O15289,P15121,Q59EL5,ABM81684,ABM83472,ABM84847,ABM86683,CBX51392 Hs.521212 ADR|ALDR1|ALR2|AR|MGC1804 Lii5-2 CTCL tumor antigen|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 protein-coding 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] 1580863,2311149,2311151,2311150 19913121,20628086,19643728,20007578,20036025,19028477,18788756,18396902,18358633,18325492,18087047,17905306,17597105,17425679,17300864,17209433,16204895,16127462,15936242,15928807,15745835,15489334,12882871,12732097,12477932,12365083,11703436,9765596,9537432,8889548,19236911,9565553,18056116,19563777,19464995,20586184,20705797 2311149,2311151,2311150 57016 NM_020299,AC078847,CH236950,CH471070,AF044961,AF052577,AF524864,BC008837,BM975664,BT006794,CR541801,U37100 NP_064695,EAL24069,EAW83816,AAC15671,AAC36465,AAO13380,AAH08837,AAP35440,CAG46600,AAC17469,O60218,ABM81604,ABW03272 Hs.116724 AKR1B11|AKR1B12|ALDRLn|ARL-1|ARL1|HIS|HSI|MGC14103 ARP|SI reductase|aldo-keto reductase family 1 member B10|aldo-keto reductase family 1, member B11 (aldose reductase-like)|aldose reductase-like 1|aldose reductase-like peptide|aldose reductase-related protein|hARP|small intestine reductase protein-coding 3516654 AKR1B15 aldo-keto reductase family 1, member B15 12477932,12690205,20877624 441282 AC078847,BC072676,BX335355,CH236950,CH471070,CR607509,CR612412,NM_001080538 C9JRZ8,EAL24068,EAW83819,NP_001074007 Hs.116724 AKR1B10L OTTHUMP00000207847|aldo-keto reductase family 1, member B10-like|aldo-keto reductase family 1, member B15|putative aldo-keto reductase family 1 member B15 protein-coding 1345706 AKR1B1P1 aldehyde reductase family 1, member B1 pseudogene 1 8244370 401982 NG_006432,AC096537 ALDRL1 pseudo 1343467 AKR1B1P2 aldo-keto reductase family 1, member B1 pseudogene 2 8244370,1612607 236 NG_001071,AC117458,M84454 ALDRP pseudo 1351686 AKR1B1P3 aldo-keto reductase family 1, member B1 pseudogene 3 8244370 729347 NG_007132,AC100865 ALDRL3 pseudo 1349917 AKR1B1P4 aldo-keto reductase family 1, member B1 pseudogene 4 8244370 390402 NG_006989,AL139320 ALDRL4 pseudo 1345288 AKR1B1P5 aldo-keto reductase family 1, member B1 pseudogene 5 390482 NG_007013,AL359219 AKR1B1P pseudo 3207496 AKR1B1P6 aldo-keto reductase family 1, member B1 pseudogene 6 100129769 AP001793,NG_017129 pseudo 1626550 AKR1B1P7 aldo-keto reductase family 1, member B1 pseudogene 7 126242 NG_009664,AC008744 pseudo 1626553 AKR1B1P8 aldo-keto reductase family 1, member B1 pseudogene 8 392525 NG_009682,BX546470 pseudo 1315695 AKR1C1 aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) 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] 1626148,1580863 16712791,8486699,7789999,16079077,19487289,19423521,19218247,18984031,18654764,17945194,17697149,17618725,17149600,16543247,16385451,19320734,19696165,19846565,20201926,16361083,16338060,15494612,15492289,15489334,15212687,15164054,13678667,12899831,12733716,12579257,12477932,11956619,11514561,11013348,10672042,10510318,8573067,8274401,8172617,8132567,8011662,7626489,7515059,20689807 1626148 1645 BC040210,BM923712,BT007197,CB119749,CR611068,D26124,M86609,S68290,U05684,NM_001353,AB032150,AC091817,AL713867,U05861,AB031083,AK310658,BC015490,BC020216 AAH40210,AAP35861,BAA05121,AAB02880,AAD14012,AAA16227,Q04828,ABM82410,ABM84849,NP_001344,BAA92886,CAI16409,CAI16410,AAA18115,BAA92883,AAH15490,AAH20216 Hs.460260 2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DDH|DDH1|H-37|HAKRC|MBAB|MGC8954 20 alpha-hydroxysteroid dehydrogenase|20-alpha-hydroxysteroid dehydrogenase|DD1/DD2|HBAB|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 protein-coding 1353901 AKR1C2 aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) 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 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. [provided by RefSeq] 1626148,1580863 20840669,8573067,19487289,19258517,18984855,18654764,18396902,18251165,17432832,17203165,16478829,16411748,16216911,15492289,15489334,15383625,15212687,15188492,14702039,14671194,13678667,12810547,12477932,12416991,11854486,11514561,11513593,10672042,9716498,8920937,8486699,8274401,8011662,7959017,7789999,2187532,19320734,19754879,19846565,20056642,20689807,20734064 1626148 1646 NM_205845,NM_001354,AB032153,AL391427,AL713867,L32592,AB021654,AB031084,AB209017,AK091194,AK290304,AK296419,AK308385,BC007024,BC063574,BT006653,M33376,S68330,U05598,AK296686,NM_001135241 NP_995317,NP_001345,BAA92891,CAI16408,AAB38486,BAA36169,BAA92884,BAD92254,BAF82993,BAG59081,AAH07024,AAH63574,AAP35299,AAD14013,AAA20937,P52895,Q59GU2,ABM81606,ABM84788,BAG59281,NP_001128713 Hs.460260,Hs.567256 AKR1C-pseudo|BABP|DD|DD2|DDH2|FLJ53800|HAKRD|HBAB|MCDR2 3-alpha-HSD3|DD-2|DD/BABP|aldo-keto reductase family 1 member C2|chlordecone reductase homolog HAKRD|dihydrodiol dehydrogenase 2|dihydrodiol dehydrogenase/bile acid-binding protein|pseudo-chlordecone reductase|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase|type II dihydrodiol dehydrogenase|type III 3-alpha-hydroxysteroid dehydrogenase 2315438 INSUL41_H protein-coding 1352888 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) 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. [provided by RefSeq] 1580863 19170196,19273550,19320734,19460435,19574343,19625176,19692168,19846565,20036328,20086173,20126582,20145130,20201926,20379614,20453000,9792917,11256614,19487289,19423521,19336506,19336370,19162045,18996480,18984855,18692800,18676680,18641923,18632753,18574251,18552976,18339682,18306354,17940109,17697149,17583494,17507624,17220347,17166832,17149600,17071532,16983398,16601286,16480815,16475787,16381901,16338060,16337083,16302261,16263811,16189514,16169070,15814298,15781210,15582534,15489336,15489334,15284179,15212687,15164054,15087468,14997212,14996743,14979715,14671194,13678667,12477932,11165022,11076863,10998348,10672042,10622721,10557352,10393440,9927279,9862446,9415401,8718859,8274401,7789999,7788527,7650035,7626489,19942269,20634197,20689807,20661409,20734064,21039282 8644 AB028065,AB032157,AL391427,CH471072,L43839,AB018580,AF149416,AK290365,AK296829,AK310940,AK315411,AV761799,BC001479,BC019230,BT007286,D17793,DQ269985,S68288,NM_003739 NP_003730,BAA88489,BAA92892,EAW86452,EAW86453,EAW86454,AAB41916,BAA88488,AAF07272,BAF83054,BAG59399,AAH01479,AAH19230,AAP35950,BAA04619,ABB76132,AAD14011,P42330,Q2XPP3,CAL37801,ABM81605,ABM84786,ACT64584,ACT64585 Hs.78183 DD3|DDX|HA1753|HAKRB|HAKRe|HSD17B5|KIAA0119|PGFS|hluPGFS 3-alpha-HSD type II, brain|aldo-keto reductase family 1 member C3|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 protein-coding 1347108 AKR1C4 aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) 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] 1580863 11158055,7650035,8172617,2187532,19013211,18676680,17207797,16344854,15987428,15489334,15164054,12544512,12477932,12220531,11284743,10672042,10634139,8274401,7789999,7626489,1530633,16385451,19170196,19625176,19692168,20201926,20214802 1109 NM_001818,AB032163,AL355303,CH471072,D89962,AB031085,AB045829,AK314988,BC020744,D26125,M33375,S68287 NP_001809,BAA92893,EAW86450,BAB43901,BAA92885,BAA99542,AAH20744,BAA05122,AAA35658,AAD14010,P17516,Q96SD9,ABM82350,ABM85524 Hs.567245 3-alpha-HSD|C11|CDR|CHDR|DD4|HAKRA|MGC22581 3 alpha-hydroxysteroid dehydrogenase/dihydrodiol dehydrogenase 4|3-alpha-HSD1|3-alpha-hydroxysteroid dehydrogenase type I|DD-4|OTTHUMP00000018997|aldo-keto reductase family 1 member C4|chlordecone reductase|dihydrodiol dehydrogenase 4|dihydrodiol dehydrogenase isozyme DD4|type I 3-alpha-hydroxysteroid dehydrogenase protein-coding 1316753 AKR1CL1 aldo-keto reductase family 1, member C-like 1 15164054,12477932 340811 AL355303,CH471072,AK131335,BC101204,BC101205,NR_027916 EAW86451,BAD18494,AAI01205,AAI01206,Q5T2L2 Hs.282513 FLJ16347 pseudo 1320023 AKR1CL2 aldo-keto reductase family 1, member C-like 2 1580863 16344560,15118078,12604216,12477932,8889548,20662065,17207965,16385451 83592 DA006578,AC091817,CH471072,AB040820,AB040821,AB040822,AB055603,AF263242,AK074211,AK302155,BC002862,BC023972,BU741321,NM_001040177,CR598545 Q96JD6,NP_001035267,EAW86461,EAW86462,EAW86463,EAW86464,EAW86465,EAW86466,BAC54565,BAC54566,BAC54567,BAC54568,AAK58523,BAH13638,AAH02862,ADQ32301 Hs.657944 AKR1CL2|AKRDC1|LoopADR|MGC10612 1,5-anhydro-D-fructose reductase|AF reductase|aldo-keto reductase family 1 member C-like protein 2|aldo-keto reductase family 1, member C-like 2|aldo-keto reductase loopADR|aldo-keto reductase related protein|hTSP|testis-specific protein protein-coding 736637 AKR1D1 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) 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. [provided by RefSeq] 1580863 20800085,19212619,20522910,7508385,19075558,19013211,18848863,18407998,16123077,12690205,11342103,11329013,10343119,9024384,16712791,12477932,19175828,20379614 6718 NG_023342,NM_001190906,NM_001190907,NM_005989,AC024082,AC083867,AF283651,AF283652,AF283653,AF283654,AF283655,AF283656,AF283657,AF283658,AF283659,CH236950,CH471070,AK058142,AK289425,AK298421,AK298428,BC130625,BC130627,BG210362,CB111926,FM160741,FM160742,FM160743,Z28339 NP_001177835,NP_001177836,NP_005980,AAG39381,EAL24049,EAW83881,EAW83882,BAB71682,BAF82114,BAG60645,BAG60650,AAI30626,AAI30628,CAQ55951,CAQ55952,CAQ55953,CAA82193,P51857,Q96LK9,ADR83138 Hs.201667 3o5bred|CBAS2|SRD5B1 3-oxo-5-beta-steroid 4-dehydrogenase|OTTHUMP00000208645|aldo-keto reductase family 1 member D1|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) protein-coding 1345885 AKR1D1P aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) pseudogene 11342103,10343119 80701 NG_002683,AF283650,AL031733 AKR1D1P|SRD5BP1 steroid-5-beta-reductase, beta polypeptide pseudogene 1 pseudo 732683 AKR7A2 aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) Aldo-keto reductases, such as AKR7A2, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM] 1580863 9576847,19077459,18752886,17591773,16710414,16429158,15489334,12879023,12477932,12071861,9823300,9373149,8125298,16189514,15967462,20877624,21044367 8574 NM_003689,AL035413,CH471134,AF026947,AK225267,AK303131,AK310609,BC004111,BC007352,BC010852,BC011586,BC012171,BC013996,BK000395,BT007347,CR597954,CR603343,CR606608,CR606766,CR610843,CR614593,CR617181,CR618917,CR625016,Y16675 NP_003680,CAB72321,EAW94881,AAC52104,BAG64236,AAH04111,AAH07352,AAH10852,AAH11586,AAH12171,AAH13996,DAA00088,AAP36011,CAA76347,O43488,ABM81929,ABM85108 Hs.571886 AFAR|AFAR1|AFB1-AR1|AKR7 AFB1 aldehyde reductase 1|AFB1-AR 1|OTTHUMP00000215517|OTTHUMP00000215519|SSA reductase|aflatoxin B1 aldehyde reductase member 2|aflatoxin beta1 aldehyde reductase|aldoketoreductase 7|succinic semialdehyde reductase protein-coding 4144516 AKR7A2P1 aldo-keto reductase family 7, member A2 pseudogene 1 12879023,19706366 246182 AJ277796,AL158844,NR_002796 CAC81911,Q8NHP2 Hs.647691 AFARP1 pseudo 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] 1580863 10383892,16710414,16189514,15489334,12879023,12477932,20453000 22977 NM_012067,AL035413,CH471134,AA844782,AF040639,AJ271799,BC025709,BC031562,BC042420,BG747063,BM855386,BM920315 NP_036199,CAI22232,EAW94878,EAW94879,AAD02195,CAC81076,AAH25709,AAH31562,AAH42420,O95154,ABW03686,ABW03342,ACE87324,ACE86642 Hs.6980 AFAR2 AFB1 aldehyde reductase 2|AFB1-AR 2|aflatoxin B1 aldehyde reductase 2|aflatoxin B1 aldehyde reductase member 3|aflatoxin b1 aldehyde reductase protein-coding 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. This family member encodes a selenoprotein, which contains a selenocysteine (Sec) residue. The selenocysteine is encoded by a UGA codon that normally signals translational termination. 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. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 16710414,12879023,12604248,12477932,20171287 246181 NM_001145289,NM_201252,AL035413,CH471134,AJ278012,BC035351,BX281656 NP_001138761,NP_957704,EAW94876,EAW94877,CAC79668,AAH35351,Q8NHP1 Hs.662342 AFAR3|AKR7A4 AFB1 aldehyde reductase 3|AFB1-AR 3|aflatoxin B1 aldehyde reductase 3|aflatoxin B1 aldehyde reductase member 4|aldoketoreductase 7-like protein-coding 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. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1643334,1643330,1643332,1643333,734957,625444,1643331,2311130,2313763,2313556,2315600,2306432,2291891,2290458,1580863,734544,734543,1358369 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5980,18395956,18392055,18374639,18356162,18355897,18355439,18353776,18351386,18339899,18332868,18332867,18332138,18331557,18323784,18319625,18317451,18316593,18309287,18273051,18270579,18264090,18262492,18256540,18249092,18247380,18240972,18227124,18216097,18204829,18204201,18201823,18199536,18199533,18198266,18197291,18187454,18184439,18182859,18174256,18172656,18167217,18097023,18087195,18083769,18079201,18071906,18064631,18063683,18059161,18053070,18048937,18048359,18046412,18041764,18037896,18035048,18023414,18021174,17977950,17962807,17960583,17959676,17957242,17951252,17950696,17935714,17932490,17928528,17925408,17924977,17921701,17915974,17914096,17914025,17909223,17906677,17901375,17898861,17895832,17892507,17890457,17883592,17868340,17855350,17827393,17826033,17825284,17825267,17823925,17822324,17804734,17804197,17761832,17726016,17725107,17721920,17721885,17716861,17712528,17696196,17687643,17681738,17666398,17638918,17635910,17616691,17616684,17616681,17615157,17612563,17611497,17609269,17606718,17601486,17599906,17599831,17584963,17581609,17580302,17577629,17569669,17566113,17565979,17553806,17551921,17549359,17546049,17544543,17544405,17522703,17522055,17521720,17520698,17513702,17513297,17512923,17507800,17507655,17504381,17501982,17495959,17495954,17493174,17483438,17478078,17471535,17470458,17469127,17468516,17462862,17461449,17458890,17443665,17428466,17406055,17404186,17400190,17386267,17383860,17375124,17360849,17351066,17342093,17335965,17333095,17318262,17317825,17317726,17310852,17307335,17300918,17299206,17287851,17276404,17244606,17235455,17233643,17215852,17214972,17179152,17173971,17169805,17151107,17148458,17143278,17141917,17136481,17136479,17128418,17113264,17099727,17098228,17097759,17088265,17081983,17068339,17065200,17060455,17052453,17050554,17043653,17041888,17024099,17016437,17015676,17012749,17008323,17006756,16990258,16988010,16987250,16987028,16981720,16977260,16972255,16962653,16951146,16946008,16932738,16926151,16916907,16912864,16897758,16862180,16849522,16844778,16842970,16840713,16839745,16822839,16820947,16820098,16818690,16797529,16792529,16790529,16790501,16785234,16775835,16774943,16763222,16732486,16723503,16684529,16682946,16670089,16651639,16644866,16616456,16601838,16583435,16571745,16568092,16564100,16551632,16549426,16543232,16537497,16532036,16532026,14973226,10527852,10497255,10491192,10490823,10485711,10454575,10438924,10376602,10358014,10226025,10224060,10217147,10102273,10085094,10082674,9973250,9736715,9512493,9395488,9394803,9368760,9019819,9005852,8524413,7774014,3384441,3037531,1718748,1533586,16841089,16524887,10869418,17157319,15689238,11208609,15616007,17891137,18292230,18931307,19074868,11313365,9312003,16362038,11162552,15843522,12586360,16009706,14970221,11500364,11278894,15545269,11773441,15910284,12446789,15342917,15149849,14749388,14749719,14499622,15818404,15580267,15688030,15678105,20560677,20872231,20980511,11723139,12244133,15173318,15527798,16098514,16107690,16210317,16272144,16604263,16836907,17006541,17210635,17318185,17533377,17535800,17554339,17706139,17927847,18072631,18191226,18439422,18479604,18583979,18624398,19062713,19070520,19142997,19170196,19176054,19188658,19193378,19261608,19353338,19356729,19377290,19405949,19407222,19409087,19418217,19428048,19429661,19437103,19453843,19458356,19473116,19473971,19479902,19482076,19483721,19484147,19488783,19503105,19520917,19533041,19541408,19553815,19556867,19560862,19564927,19567200,19584164,19588500,19589780,19590514,19592491,19595713,19596916,19597469,19609946,19621391,19622752,19625176,19628576,19633364,19635908,19636556,19638627,19639178,19639199,19641183,19644051,19646290,19649722,19655166,19655410,19655414,19657064,19676105,19679016,19681907,19684620,19692168,19700402,19713527,19721393,19723094,19723095,19726550,19726736,19726747,19727814,19738422,19744127,19747927,19748889,19764563,19765303,19767770,19775474,19776120,19781633,19787271,19797085,19801633,19801684,19802009,19802016,19805522,19815552,19815839,19816934,19820359,19825827,19833727,19835871,19836430,19850036,19853286,19855431,19864499,19875456,19875696,19878271,19881543,19885574,19885581,19887561,19887570,19889638,19889640,19891769,19898424,19903888,19917135,19920252,19922411,19924282,19925030,19931325,19933775,19935854,19940129,19948975,19956840,19956847,19965664,19966853,20003467,20005908,20008098,20008289,20018888,20018937,20018949,20019839,20022634,20026048,20028853,20030877,20033742,20041238,20042122,20046382,20048146,20053726,20054340,20056178,20072648,20081374,20086095,20086174,20088406,20093341,20101210,20107185,20109457,20127017,20127709,20133737,20154081,20159991,20164223,20164304,20173664,20186503,20190811,20198299,20214684,20216540,20232298,20306497,20308328,20332111,20339081,20346360,20360004,20361981,20362557,20388781,20389136,20407443,20412774,20416077,20421846,20432460,20447721,20453000,20471940,20478633,20488790,20493625,20513428,20520724,20526288,9768361,19882362,19997873,20490331,20541701,20141546,20228224,20530982,20620179,20671123,20844931,19754670,20201953,20372801,20372806,20414143,20731018,20829512,20182617,20307589,20339252,20347887,20410674,20514448,20514451,20516073,20574456,20643654,19897009,19913121,20055757,20110348,20398329,20458733,20523723,20530239,20530554,20555032,20622004,20628086,20947498,18231751,19489223,20536315,20607350,20693286,20697673,19757167,20512574,20566894,20595063,20679348,20921115,16613989,20100200,20186153,20231902,20333297,20361045,20557351,20672329,20725137,20818434 1643334,1643330,1643332,1643333,734957,625444,1643331,2311130,2313763,2313556,2315600,2306432,2291891,2290458,734544,734543,1358369 207 NM_001014431,NM_001014432,NM_005163,NG_012188,A62733,A63232,AF283830,AL583722,AL590327,CH471061,EU332835,AB451242,AB451367,AK094287,AK122894,AK127193,AK131465,AK299310,AK314256,BC000479,BC001737,BC063408,BC084538,BX647722,BX648205,CN414251,CR611982,M63167,X61037 EAW81881,NP_001014431,NP_001014432,NP_005154,CAA03677,CAA03712,AAL55732,EAW81882,EAW81883,ABY87524,BAG70056,BAG70181,BAG53786,BAG54449,BAH12997,BAG36922,AAH00479,AAH01737,AAH84538,AAA36539,CAA43372,P31749,Q9BV07,ACE87663,ACE86973 Hs.525622 AKT|MGC99656|PKB|PKB-ALPHA|PRKBA|RAC|RAC-ALPHA RAC-PK-alpha|RAC-alpha serine/threonine-protein kinase|protein kinase B|proto-oncogene c-Akt|rac protein kinase alpha protein-coding 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] 737633,2308795 14973226,14702039,12524439,12477932,9373149,8125298,16169070,18372248,18215133,17604271,17510057,17386266,17277771,17081983,16344560,16174443,15489334,15324660,15302935 737633,2308795 84335 NM_001098633,NM_032375,AC118341,CH471177,AK055511,AK092610,AK123687,AK226004,AK316603,BC000031,BC007416,NM_001098632,BC015562,BC016043,BC022241,BC051844,CR602166,CR603738,CR604133,CR606632,CR608170,CR608835,CR612202,CR619923,DA005259,DA542314,CR595556 NP_001092102,NP_001092103,NP_115751,EAW52568,EAW52569,EAW52570,EAW52571,BAB70937,BAG52583,BAG38190,AAH00031,AAH07416,AAH15562,AAH16043,AAH51844,Q96B36 Hs.515542 Lobe|MGC2865|PRAS40 40 kDa proline-rich AKT substrate|OTTHUMP00000196756|OTTHUMP00000196760|proline-rich AKT1 substrate 1|proline-rich Akt substrate, 40 kDa protein-coding 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] 632179,2313347,2311130,2313406,2313763,2315599,2313297,2313299,2313320,2313405,2313409,2313410,2315600,2315603,2302395,2302397,2313350,2313316,2313408,2306432,2313394,2307342,2290458,2290476,1580863,734545,1601155,734958 20102399,20409325,9512493,9394803,9374542,8622988,3037531,1801921,16841089,16524887,10869418,17157319,15689238,11208609,15616007,16221682,15678105,9528769,17327441,17276404,17012749,16982699,16402276,16365168,15987444,15890450,15557754,15531580,15489334,15166380,15144186,15111130,15102693,15070827,15010337,14973226,14735903,14702039,14699494,14654898,14645242,14637151,14612499,14504284,14500673,12808085,12791994,12733712,12697749,12663464,12545160,12524439,12517798,12517337,12482965,12480711,12477932,12434148,12181350,12176337,12167664,12149249,12114503,12048203,11994280,11988487,11948187,11903042,11781143,11707444,11546794,11507039,11500317,11445557,11432835,11313479,11278835,11156964,11139588,10983986,10491192,9736715,10490823,1409633,16814735,15314020,19197940,19164214,19079138,19075230,19074768,19064572,18996102,18842333,18768676,18660489,18353613,18316591,18281467,18048359,17914025,17908691,17895832,17825284,17804734,17576055,17482291,17372934,17332325,12176997,17030088,17535800,17577629,19110052,19261608,19435822,19453261,19713527,19797172,19825827,19843246,19933843,20018949,20056178,20056908,20059950,20109457,20116920,20133737,20167810,20186503,20354455,20447721,20687898,19913121,20398329,20602615,20628086,20514445,20691427,21048031 632179,2313347,2311130,2313406,2313763,2315599,2313297,2313299,2313320,2313405,2313409,2313410,2315600,2315603,2302395,2302397,2313350,2313316,2313408,2306432,2313394,2307342,2290458,2290476,734545,1601155,734958 208 NM_001626,NG_012038,AC118344,AY708392,CH471126,AK054771,AK055779,AK122839,AK294453,AK304209,AK308006,AK308906,AK314619,BC022779,BC032709,BC040028,BC063421,BC120994,BC120995,BQ219902,CR592991,M77198,M95936 NP_001617,AAT97984,EAW56941,EAW56942,EAW56943,BAG51573,BAG57690,BAH14135,BAG37185,AAH22779,AAH32709,AAH63421,AAI20995,AAI20996,AAA36585,AAA58364,P31751,Q05BV0,Q0VAN0,Q6P4H3,Q8TBE2 Hs.631535 PKBB|PKBBETA|PRKBB|RAC-BETA Murine thymoma viral (v-akt) homolog-2|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 protein-coding 735623 AKT3 v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) 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] 2313763,2290458,1580863 11322783,11230166,11156964,11076863,10773662,10491192,10419456,10208883,9512493,9394803,9305920,16841089,16524887,10869418,17157319,15689238,11208609,15616007,11466625,11387345,20647317,20102399,12176997,10092583,18813315,18451171,17895832,17668379,17178867,16381901,15987444,15698844,15579468,15543611,15489336,15466193,14702039,14637150,12692267,12663464,12477932,12167664,12162751,11994280,11707444,11489829,19913121,20398329,20628086,19261608,19435822,19626040,19713527,20018949,20031603,20056178,20167810,20186503,20354165,18029348,21048031 2313763,2290458 10000 NM_181690,NM_005465,AC096539,AL591721,AL592151,AL662889,CH471148,AF085234,AF124141,AF135794,AJ245709,AK055109,AK308052,AL117525,AW960221,AY005799,BC020479,BC121154,BG702262 NP_859029,NP_005456,CAH71866,CAH71867,CAH72891,CAH72892,CAH73072,CAH73073,EAW77093,EAW77094,AAL40392,AAD29089,AAD24196,CAB53537,CAB55977,AAF91073,AAH20479,AAI21155,Q56A86,Q9Y243,CAL37669,CAL37727 Hs.498292 DKFZp434N0250|PKB-GAMMA|PKBG|PRKBG|RAC-PK-gamma|RAC-gamma|STK-2 OTTHUMP00000037911|OTTHUMP00000037912|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 protein-coding 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] 20635389,17353931,19270026,18799622,16189514,16169070,15489334,14749367,14702039,12477932,9501314,9383278,9373149,8626685,8125298,17207965,19549727 64400 NM_001012398,NM_022476,AC007342,CH471092,AK023320,AK098222,AK222743,AK303503,AL133106,BC001134,BC095401,BG568989,BI545474,CR457308,CR602186,CR620376 NP_001012398,NP_071921,EAW82803,EAW82804,EAW82805,EAW82806,EAW82807,EAW82808,EAW82809,BAB14524,BAD96463,BAG64536,CAH56392,AAH01134,AAH95401,CAG33589,Q659E0,Q9H8T0,ADQ32518 Hs.380897 FT1|FTS AKT-interacting protein|fused toes homolog|fused toes homolog (mouse)|fused toes protein homolog protein-coding 736545 ALAD aminolevulinate, delta-, 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] 1599013,1599014,1599011,1601156,1580863,1578396,4144806,4144168,4144137,4144142,4144146,4144542,4144150,4144152,4144202,4144163 3463993,3758678,11032836,19548578,19515364,19440429,19327888,19028776,18936436,18795909,18784554,18676680,18569569,18432999,18282196,18271513,17966070,17823382,17649958,17383846,17366816,17291479,17164378,16757504,16730797,16497859,16487505,16445899,16377642,16344560,16263504,16203232,16140629,15954127,15915653,15587989,15489334,15386154,15381398,15258767,15213514,15164053,15064157,14694653,14527840,12972060,12896855,12878157,12665801,12611663,12477932,12469218,11909869,11860952,11800328,11591653,11459423,11444968,11427399,11413692,11335187,10706561,10519994,8188255,7450139,6839527,6378062,3327436,3092810,3036687,2063868,1716854,1678509,1602151,1569184,1156566,19170196,19625176,19686844,19692168,19723536,19766174,19789817,19812033,20021040,20021192,20069172,20123609,20406759,20510440,20798009 1599013,1599014,1599011,1601156,4144806,4144168,4144137,4144142,4144146,4144542,4144150,4144152,4144202,4144163 210 NM_000031,NG_008716,AL137066,AY319481,CH471090,X64467,AA593706,AK131490,AK290490,AK295945,AK312552,AU279870,BC000977,BU625796,BX494400,DA412142,DA805310,M13928,S99468,S99471 NP_000022,CAH70099,CAX14973,CAX14974,CAX14975,AAP72012,EAW87379,EAW87380,CAA45796,BAD18635,BAF83179,BAH12225,BAG35449,AAH00977,AAA51687,AAC60581,AAC60582,P13716,Q6ZMU0 Hs.1227 ALADH|MGC5057|PBGS aminolevulinate, delta-, dehydratase|delta-aminolevulinic acid dehydratase|porphobilinogen synthase protein-coding 68572 ALAS1 aminolevulinate, delta-, synthase 1 Delta-aminolevulinate synthase (ALAS; EC 2.3.1.37) catalyzes the condensation of glycine with succinyl-CoA to form delta-aminolevulinic acid. This nuclear-encoded mitochondrial enzyme is the first and rate-limiting enzyme in the mammalian heme biosynthetic pathway. There are 2 tissue-specific isozymes: a housekeeping enzyme encoded by the ALAS1 gene and an erythroid tissue-specific enzyme encoded by ALAS2 (MIM 301300).[supplied by OMIM] 1580863,1601233,1300048,1578396,4144542,4144178,4144185,4144834,4145274,4144808 2347585,18719978,17672918,17628775,16730941,15797241,15710391,15547665,15489334,15477213,15123725,12878157,12477932,12433930,11929048,11929042,11566198,8424176,7698013,3671094,2263504,2095458,11267664,19477221,20237496,19913121,20628086,15028279,20877624,21048031 1601233,4144542,4144178,4144185,4144834,4145274,4144808 211 NM_199166,NM_000688,AC097637,CH471055,AB063322,AK293190,AK300993,AK312566,AU279391,AY260745,BC011798,BM546974,BU173391,CD014147,CR590706,CR596499,CR606089,X56351,Y00451 NP_954635,NP_000679,EAW65188,EAW65189,EAW65190,BAB93514,BAG56730,BAG62612,BAG35461,AAP94018,AAH11798,CAA39794,CAA68506,P13196,Q5JAM2 Hs.476308 ALAS|ALAS3|ALASH|MIG4 5-aminolevulinate synthase, nonspecific, mitochondrial|5-aminolevulinic acid synthase 1|ALAS-H|delta-ALA synthase 1|delta-aminolevulinate synthase 1|migration-inducing protein 4 protein-coding 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] 1599037,1599038,1580863,1300048,1578396,4144542 14643893,10727444,16234850,2050125,19187226,19066423,18760763,18569569,18555711,16446107,16121195,15772651,15342556,15166166,12663458,12477932,12393718,12031592,10577279,10029606,9858242,9642238,8107717,2347585,2263504,1939222,1577484,1570328,8889548,19731322,546546 1599037,1599038,4144542 212 NM_001037967,NM_000032,NM_001037968,NG_008983,AF068624,AL020991,AY190322,AY532069,AY532070,AY532071,AY532072,AY532073,AY532074,AY532075,AY532076,AY532077,AY532078,AY532079,AY532080,AY532081,AY532082,AY532083,AY532084,AY532086,AY532087,AY532088,AY532089,AY532091,AY532092,AY532093,AY532094,AY532095,AY532096,AY532097,AY532098,AY532099,AY532100,AY532101,AY532102,AY532103,AY532085,AY532104,AY532105,AY532106,AY532107,AY532108,AY532109,CH471154,Z83821,AA778169,AK290565,AK291589,AK313118,BC030230,BM677888,BP233279,BP284609,BQ182291,CR591435,CR593743,CR606333,CR606670,CR608649,CR609889,CR613185,CR615092,CR620984,CR626361,X56352,X60364 NP_001033056,NP_000023,NP_001033057,AAC39838,CAA15886,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,EAW93211,EAW93212,EAW93213,BAF83254,BAF84278,BAG35939,AAH30230,CAA39795,CAA42916,P22557,Q5JZF5,Q6QNT2,Q86YM3,Q8N6H3,Q9H366 Hs.522666,Hs.555936 ALAS-E|ALASE|ANH1|ASB|FLJ93603|XLDPP|XLSA 5-aminolevulinate synthase, erythroid-specific, mitochondrial|5-aminolevulinic acid synthase 2|aminolevulinic acid synthase 2|delta-ALA synthase 2|delta-ALA synthetase|delta-aminolevulinate synthase 2 protein-coding 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] 1601158,2306884,2306882,2306885,2306886,1599027,1599028,734959,1599033,1580863,1601159,1601157,1601160,2325678,2325680,2325679,2325683,2325675,2325682,2325676,2325677,2325686 20603593,20346571,20471030,16405401,14726550,16169013,16307046,16413734,16413740,10940303,16289007,16413837,9731778,16283771,16099937,16201370,16245148,16394536,16153637,12617161,6457647,7557095,8132774,11159893,14718574,19377253,19318029,19298387,19139584,19011736,18979581,18958405,18791744,18579803,18513410,18474236,18464274,18459107,18386863,18346470,18323672,18287254,18256067,18200583,18200582,18192916,18178096,18068661,18054940,18029235,18028874,17987802,17940721,17603933,17587712,17575979,17499233,17467280,17438360,17347578,17200780,17184834,17109502,17067818,17064838,17054386,17048876,17048273,17002873,16979183,16939204,16916777,16892178,16843720,16721655,16705651,16703327,16608438,16454580,16344560,16337614,16324740,16253963,16213467,16159939,16156788,16037246,15996651,15952740,15942949,15913893,15890566,15837789,15832324,15740590,15716124,15646839,15489334,15353599,15324660,15210122,15149953,15137089,14983239,14759223,14687905,14520007,13677478,12975309,12970360,12969171,12815038,12732844,12665801,12566415,12480711,12477932,12118010,12009306,11931649,11906609,11847277,11810025,11781148,11743713,11743520,11734007,11689002,11680902,11483580,11168369,11158855,11145723,11140838,10811843,10780709,10388840,9618718,9589637,9329347,9183005,8898021,8889549,8513793,8347685,8134387,8064810,8063017,8048949,8022807,7902134,7895732,7882997,7852505,7578225,7297678,6933567,6864486,6324579,6292049,6275391,6192711,6173750,6171778,4062880,4027254,3828358,3795040,3759977,3479777,3474609,3353369,3087352,3081519,3009475,2914956,2911589,2901102,2898383,2792379,2762316,2727704,2564675,2460858,2437111,2419329,2404284,2374930,2339130,2247440,2104980,2068071,1946412,1859851,1819460,1630489,1602151,1518850,1390939,1347703,1225573,955075,683332,656055,571335,325004,8312056,7576927,1810199,12007569,10580404,10086322,8605586,9168236,16169070,15502818,15616580,16054887,15174051,15604093,16329499,17058928,17460892,19212124,19339807,19375269,19450464,19484197,19505594,19520864,19572666,19588173,19601929,19615354,19615732,19664386,19707690,19711930,19733855,19734142,19785033,19883602,19884191,19955769,19996109,20006594,20018855,20025859,20171595,20306030,20211614,20381621,14579113,20215742,20716240,20818804,20705604,20160662 1601158,2306884,2306882,2306885,2306886,1599027,1599028,734959,1599033,1601159,1601157,1601160,2325678,2325680,2325679,2325683,2325675,2325682,2325676,2325677,2325686 213 CR597211,CR597943,CR598093,CR598383,CR598385,CR598603,CR599168,CR599458,CR599721,CR600034,CR600037,CR600791,CR601390,CR601415,CR601553,CR602440,CR602816,CR603329,CR603331,CR603379,CR596914,CR597043,CR603655,CR603842,CR604028,CR604468,CR604471,CR605000,CR605103,CR605340,CR605517,CR605670,CR606186,CR606327,CR606332,CR606409,CR606433,CR606436,CR606456,CR606725,CR607762,CR607982,CR608360,CR608361,CR608483,CR609761,CR610097,CR610411,CR610438,CR611727,CR611846,CR612534,CR612673,CR612742,CR612869,CR613164,CR613537,CR613656,CR614762,CR615003,CR615080,CR615140,CR615141,CR615515,CR615566,CR616077,CR616559,CR617076,CR617086,CR617173,CR617306,CR617317,CR617604,CR617605,CR617809,CR617825,CR617917,CR618745,CR618825,CR618884,CR618985,CR619204,CR619209,CR619440,CR619916,CR620317,CR620357,CR620627,CR621036,CR621037,CR621584,CR621629,CR622690,CR622692,CR623499,CR623708,CR624078,CR624084,CR624085,CR624270,CR624330,CR624773,CR624987,CR625370,CR625426,CR625546,CR626041,CR626274,CR626607,CR626733,CR626747,CR749331,DA536463,DA642320,DQ986150,N53869,V00494,V00495,A06977,NG_009291,AC108157,CH471057,EF649953,M12523,M13075,S69192,S70799,AF190168,NM_000477,AK292755,AK298437,AK298461,AK308044,AK314794,AY358313,AY544124,AY550967,AY728024,AY960291,BC014308,BC034023,BC034026,BC035969,BC036003,BC039235,BC041789,BJ993972,CR590441,CR590559,CR590565,CR590662,CR590860,CR590946,CR591135,CR591316,CR592047,CR592175,CR592642,CR592816,CR593238,CR593239,CR593838,CR593839,CR593996,CR594121,CR594216,CR594507,CR594508,CR594567,CR595087,CR595460,CR596141,CR596272,CR596480,CR596833,CR596880,AF542069,GM662929,CS339763,GN367252,HC484161 CAH18185,ABJ16448,CAA23753,CAA23754,P02768,Q16167,Q56G89,Q8IUK7,CAA00606,ABM82340,ABM85514,NP_000468,EAX05659,EAX05660,EAX05661,EAX05662,EAX05663,EAX05664,EAX05665,EAX05666,EAX05667,EAX05668,EAX05669,EAX05670,EAX05671,EAX05672,EAX05673,EAX05674,EAX05675,EAX05676,EAX05677,EAX05678,ABS29264,AAA98797,AAA98798,AAA51688,AAB30282,AAB31177,AAF01333,AAN17825,BAF85444,BAG60658,BAG60674,BAG37325,AAQ89947,AAT11155,AAT52213,AAU21642,AAX63425,AAH14308,AAH34023,AAH35969,AAH36003,AAH41789,CAL14739,CAV33840,CAY85984,CBL66721 Hs.418167 DKFZp779N1935|PRO0883|PRO0903|PRO1341 OTTHUMP00000220436|OTTHUMP00000220438|OTTHUMP00000220439|cell growth inhibiting protein 42|growth-inhibiting protein 20|serum albumin protein-coding 733283 ALCAM activated leukocyte cell adhesion molecule 734960,1580863 20726988,12754519,9920831,12481253,12477932,11306570,10673383,16712791,20364042,20530423,7760007,19603023,19337990,19322904,19142865,18810438,18483249,18347173,18279810,18202807,18172759,18171982,18157132,17971418,17624664,16865058,16818773,16818742,16650408,16335952,16204050,16024937,15496415,15169840,15140234,14702039,12843199,9502422,9436462,8823162,8520490,7543097,20826154,20929568,16799092,19626493,20180536,20208136,20220571,19913121,20606680,20628086 734960 214 AC023602,AC078806,AC133476,CH471052,AB074167,AK054632,AK095833,AK127617,AK300362,AK301804,AK316113,AL833702,AY644765,BC029639,BC041127,BC057809,BC137096,BC137097,CB145726,DQ486139,DQ486140,L38608,Y10183,NM_001627 Q13740,NP_001618,EAW79755,EAW79756,EAW79757,BAG51401,BAC87059,BAG62102,BAG63255,BAH14484,AAV28819,AAH57809,AAI37097,AAI37098,ABF48405,ABF48406,AAB59499,CAA71256,Q6PEY4,Q6ZS95 Hs.591293 CD166|FLJ38514|MEMD|MGC71733 CD166 antigen|OTTHUMP00000214314|OTTHUMP00000214315|activated leucocyte cell adhesion molecule protein-coding 1350465 ALDH16A1 aldehyde dehydrogenase 16 family, member A1 This gene encodes a member of the aldehyde dehydrogenases 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 17353931,16344560,14702039,12477932,9110174,8619474,19184135,19615732 126133 NM_153329,NM_001145396,NG_012747,AC010619,CH471177,AK024182,AK074136,AK297101,AK298587,AK301246,AY007096,BC014895,BC035641,BC042142,CR602601,CR608888,DA629821,DC364604 NP_699160,NP_001138868,EAW52482,EAW52483,EAW52484,BAB84962,BAG59613,BAG60777,BAG62813,AAH14895,AAH35641,AAH42142,Q8IZ83 Hs.719998 MGC10204 aldehyde dehydrogenase family 16 member A1 protein-coding 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] 1580863 8761662,18478038,18401542,15517380,15489334,15164054,12477932,11092761,10037775,9373149,8921385,8125298,16385451,18029348,19615732,20379614,20819778,20877624,20946940 5832 NM_002860,NM_001017423,NG_012258,AL356632,CH471066,AK126355,AK225455,AK225465,AK226032,AK295487,AK299557,AK312271,AW467503,BC106054,BC117240,BC117242,BC143930,BU170321,CD642171,CR604316,U68758,U76542,X94453 NP_002851,NP_001017423,CAI16765,CAI16766,EAW49994,EAW49995,EAW49996,EAW49997,BAH12086,BAH13064,BAG35201,AAI06055,AAI17241,AAI17243,AAI43931,AAD00169,AAD17454,CAA64224,P54886,ADR83253 Hs.500645 GSAS|MGC117316|P5CS|PYCS 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) protein-coding 736747 ALDH1A1 aldehyde dehydrogenase 1 family, member A1 This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of this enzyme, 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 only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of the mitochondrial isozyme. This gene encodes a cytosolic isoform, which has a high affinity for aldehydes. [provided by RefSeq] 1300048,1580863,2325688 20516116,19911270,20596639,1709013,224930,2987944,19478994,19450560,19385968,19343046,19329942,19296407,19129088,19025616,19018242,18854779,18848913,18644979,18496131,18450747,18371393,18343808,18331377,18082256,18029348,17628022,17502835,17286337,17222227,17175089,16878979,16857736,16189514,15597079,15489334,14678778,14506398,12477932,12174908,12081471,9723161,9240474,9166904,8493914,8214422,6723659,6427007,4015823,3676276,3397064,3013004,2776714,2591967,730161,19447584,19696793,19703508,19706361,19774675,19808966,19874574,20010854,20019840,20142235,20379614,20606680,20634891,20585849,20228222,20959469 2325688 216 NM_000689,NG_012249,AL591031,AY338497,CH471089,M31994,S61235,AB209821,AF003341,AK000118,AK026641,AK293176,AK302168,AY390731,BC001505,BG773210,BT006921,CR601139,K03000,M26761,HC025826 Q5SYQ8,Q5SYQ9,ABM81595,ABM84776,NP_000680,CAI12257,CAI12259,CAI12260,CAI12261,AAP88039,EAW62543,EAW62544,AAA51692,AAD13925,BAD93058,AAC51652,BAG56719,BAG63535,AAR92229,AAH01505,AAP35567,AAA51695,AAA35518,P00352,Q59EJ0,Q5SYQ7,CBH19844 Hs.76392 ALDC|ALDH-E1|ALDH1|ALDH11|MGC2318|PUMB1|RALDH1 ALDH class 1|ALHDII|RALDH 1|acetaldehyde dehydrogenase 1|aldehyde dehydrogenase 1, soluble|aldehyde dehydrogenase family 1 member A1|aldehyde dehydrogenase family 1, member a1|aldehyde dehydrogenase, cytosolic|aldehyde dehydrogenase, liver cytosolic|retinal dehydrogenase 1|retinaldehyde dehydrogenase 1 protein-coding 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. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1576367,1300048,734550,1580863,734961,734962 16166285,16237707,18495959,19478994,19343046,16368932,15489334,14718574,14702039,12477932,11953746,10192400,9819382,8797830,8663198,18029348,19609347,19703508,19886994,20308937,20375987,20379614 1576367,734550,734961,734962 8854 NM_170696,NM_003888,NM_170697,NG_012259,AB015229,AC012653,AC025431,CH471082,DQ322171,AB015226,AB015227,AB015228,AK128709,AK294981,AK303057,AL110274,AL110299,AL137418,BC030589,BI459110,CR601540 NP_733797,NP_003879,NP_733798,BAA34788,EAW77528,EAW77529,EAW77530,ABC40749,BAA34785,BAA34786,BAA34787,BAG54714,BAG58050,BAG64174,CAB53740,AAH30589,O94788,Q9UED3,ABM82494,ABM85686 Hs.643455 MGC26444|RALDH(II)|RALDH2|RALDH2-T RALDH 2|aldehyde dehydrogenase family 1 member A2|aldehyde dehydrogenase family 1, subfamily a2|retinal dehydrogenase 2|retinaldehyde-specific dehydrogenase type 2 protein-coding 1353558 ALDH1A3 aldehyde dehydrogenase 1 family, member A3 Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The enzyme encoded by this gene uses retinal as a substrate, either in a free or cellular retinol-binding protein form. [provided by RefSeq] 1580863 11585737,19478994,19343046,15489334,12477932,12040753,9490025,7698756,20709019,19703508 220 NM_000693,NG_012254,AC015712,CH471101,AK302607,AK303441,AK312303,AL110109,BC009245,BC069274,BX538027,DB480234,U07919 NP_000684,EAX02281,EAX02282,EAX02283,BAG63855,BAG64488,BAG35229,AAH69274,CAD97973,AAA79036,P47895,Q7Z3A2,ACE87384,ACE86700 Hs.459538 ALDH1A6|ALDH6|RALDH3 RALDH-3|acetaldehyde dehydrogenase 6|aldehyde dehydrogenase 6|aldehyde dehydrogenase family 1 member A3|retinaldehyde dehydrogenase 3 protein-coding 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] 1580863 7779080,7774944,2061311,18029348,20700531,20734064,20877624,1306115,19343046,18782342,17628022,17471563,15489334,15164053,12477932,9373149,8689400,8244338,8125298,20205700 219 NM_000692,NG_012253,AL135785,CH471071,M63967,AK225950,AK297020,AK313344,BC001619,BE889810,BT007418 NP_000683,CAD13246,EAW58252,AAA96830,BAG59552,BAG36147,AAH01619,AAP36086,P30837,ABM81675,ABW03290 Hs.436219 ALDH5|ALDHX|MGC2230 ALDH class 2|acetaldehyde dehydrogenase 5|aldehyde dehydrogenase 5|aldehyde dehydrogenase X, mitochondrial|aldehyde dehydrogenase family 1 member B1|mitochondrial aldehyde dehydrogenase X protein-coding 1606025 ALDH1L1 aldehyde dehydrogenase 1 family, member L1 The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, NADP, and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family and is responsible for formate oxidation in vivo. Deficiencies in this gene can result in an accumulation of formate and subsequent methanol poisoning. [provided by RefSeq] 19913121,20628086,20634891,10204077,19343046,19161160,19064578,19048631,18830263,18676680,17891500,17548676,17119116,12805405,12477932,12065246,9373149,8125298,7972060,2733692,19170196,19625176,19692168,19851296,19936946,20198315,20453000,20737570,20877624,20729910 10840 NM_012190,NG_012260,AC079848,CH471052,AA639766,AB209299,AF052732,AK124908,AK222535,AK222694,AK294392,AK294530,AK307699,AK308112,AL133015,BC027241,BC045645,BI829048,CR749807 NP_036322,EAW79370,EAW79371,EAW79372,CAH18667,O75891,Q53H87,Q53HP5,Q59G10,Q6ZV71,Q8TBP8,Q9UFA9,ACE87501,ACE87502,ACE86814,ACE86815,AAC35000,BAC85992,BAD96255,BAD96414,BAG57647,BAG57739,BAD92536,CAB61356,AAH27241 Hs.434435 10-fTHF|DKFZp781N0997|FTHFD 10-FTHFDH|10-formyltetrahydrofolate dehydrogenase|OTTHUMP00000155221|OTTHUMP00000222724|aldehyde dehydrogenase family 1 member L1|cytosolic 10-formyltetrahydrofolate dehydrogenase|formyltetrahydrofolate dehydrogenase protein-coding 1345617 ALDH1L2 aldehyde dehydrogenase 1 family, member L2 This gene encodes a protein, which belongs to both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1580863 20498374,14702039,12477932,20877624,19933275,20379614 160428 NM_001034173,NR_027752,NG_012748,AC016257,AC090051,AF086109,AK094088,AK095827,AK300373,BC103934,BC103935,BX537599,CA418450,CR590204,CR627287,CR749561 NP_001029345,BAC04634,BAG62109,AAI03935,AAI03936,CAH10368,CAH18358,Q3SY69,ACE87788,ACT64437 Hs.42572 DKFZp686A16126|DKFZp686M064|DKFZp686P14145|FLJ36769|FLJ38508|MGC119536|MGC119537|mtFDH 10-formyltetrahydrofolate dehydrogenase ALDH1L2|aldehyde dehydrogenase family 1 member L2|mitochondrial 10-formyltetrahydrofolate dehydrogenase|probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2 protein-coding 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 this enzyme, 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 only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of the mitochondrial isozyme. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. [provided by RefSeq] 1601163,1580863,2311152,734551,1599041,1599042,1331525,1300048,1601161,1601162,1601164,2325694,2325313 19286920,17459359,9309300,19262484,19250143,19230487,19185835,19182438,19164089,19124505,19115622,19096130,19068087,18996923,18974607,18798003,18787502,18786921,18782342,18776700,18773092,18772068,18763293,18724972,18715275,18676680,18665932,18621017,18616675,18540919,18516948,18510611,18450747,18439068,18429959,18336671,18331377,18322963,18318597,18317873,18302046,18299763,18272654,18258609,18254707,18216179,18215653,18201725,18078815,18056758,18033686,17984618,17963305,17952709,17948892,17885622,17854793,17850643,17785925,17659824,17632320,17631643,17559142,17543846,17517051,17489985,17471563,8561277,8290656,8125298,7593603,6582480,4065146,4015823,3653404,3610592,3582651,3562250,3017845,2987944,2838413,2562960,16169070,1306115,8903321,19637400,19618839,19584771,19469618,19456322,19449376,19403456,19393179,19343046,19339270,19336370,19332462,19302089,19298328,19298323,15654505,15569633,15563966,15542751,15519646,15511718,15489334,15377279,15327835,15318112,15318097,15318096,15279067,15242332,15220553,15182962,15167446,15126281,15123334,15122947,15084894,15008789,14768474,14742656,14693654,14691372,14652286,14636437,14634838,14597338,14568296,14506613,14506399,12940444,12915519,12915514,12884000,12824748,12806963,12798968,12777946,12766630,12759747,12759156,12739102,12718671,12718576,12706324,12706323,12705718,12563175,12554615,12545748,12519453,12517056,12505800,12492137,12484509,12477932,12452318,12419833,12387818,12376487,12351924,12223435,12213289,12211622,12198369,12198368,12189549,12173598,12170102,12168074,12164325,12119207,12089173,12082496,12080432,12033531,12010862,11966948,11925062,11798074,11767261,11748356,11744614,11696658,11692094,11600186,11584144,11520401,11510748,11468345,11410744,11410735,11375898,11238183,11210104,11117576,11115843,11051375,10631996,9765594,9373149,17388993,17384900,17292341,17285601,17207821,17196743,17138329,17134659,17071628,17040107,17036331,17033202,16958672,16847426,16822169,16792555,16788276,16782756,16759795,16758956,16734278,16702384,16685648,16679777,16679343,16639733,16624836,16608143,16600530,16565959,16520888,16499490,16440362,16440063,16408483,16404797,16385179,16365683,16351505,16332725,16324524,16309369,16250071,16235983,16187278,16163053,16135443,16127737,16126235,16125912,16108833,16103445,16082583,16078602,16046871,16006997,15991278,15983043,15957670,15957669,15902904,15863807,15842823,15840430,15780035,15734972,15714130,15703303,15679538,17454860,19486361,12795606,19064571,19144977,19170196,19251454,19261511,19452585,19506075,19625176,19641380,19655364,19667493,19692168,19698717,19706845,19751749,19769429,19799139,19819294,19826048,19860798,19861527,19874574,19876063,19906643,19911129,19914339,19948975,20005475,20010786,20025435,20042735,20062057,20077761,20093384,20100738,20101753,20180013,20180859,20205700,20364586,20381070,20403997,20417517,20437850,20467232,20477767,20477771,20488846,20518787,20521872,9195888,20562859,20833657,20139978,19913121,20541757,20577142,20590827,20598484,20628086,20632450,20652463,20685249,20806441,20700531,20877124,20877624,21039630,21070510 1601163,2311152,734551,1599041,1599042,1331525,1601161,1601162,1601164,2325694,2325313 217 NM_000690,NG_012250,AC002996,AC003029,AF164120,CH471054,M20444,M20456,AK223373,AK301375,AK314856,AY621070,BC002967,BC071839,CR456991,CR609508,CR617194,CR618953,CR620819,K03001,M26760,M54931,X05409,Y00109,HC250939,HC311128 NP_000681,AAD48447,EAW97973,EAW97974,EAW97975,EAW97976,AAA51693,BAD97093,BAG62916,AAT41621,AAH02967,AAH71839,CAG33272,AAB59500,AAA51694,AAA62825,CAA28990,CAA68290,P05091,Q53FB6,Q9UN17,CBJ05767,CBJ21219 Hs.632733 ALDH-E2|ALDHI|ALDM|MGC1806 ALDH class 2|acetaldehyde dehydrogenase 2|aldehyde dehydrogenase 2|aldehyde dehydrogenase, mitochondrial|liver mitochondrial ALDH|nucleus-encoded mitochondrial aldehyde dehydrogenase 2 protein-coding 733180 ALDH3A1 aldehyde dehydrogenase 3 family, memberA1 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] 1580863,2300309,1300048 1737758,11256614,19360691,19343046,19058789,19025616,18854779,18621017,18536178,18496131,16344560,15905174,15489334,14745454,14702039,12943535,12706498,12477932,12367788,12081471,10780262,9855707,9514081,9373149,9250352,9027499,8889548,8493892,8125298,7774944,7625577,7228061,4073832,2037078,1905102,1306115,19894643,20056567,20237496,20379614,19696793,20102361 2300309 218 NM_000691,NM_001135167,NM_001135168,NG_012251,AC005722,CH471212,AK091272,AK093755,AK093877,AK225505,AK225513,AK292193,AK314584,BC004102,BC004370,BC008892,BC021194,BM979497,BT007102,CV575863,DA427150,DA445491,M74542,M77477,S61044 NP_000682,NP_001128639,NP_001128640,EAW50908,EAW50909,BAG52758,BAC04239,BAF84882,BAG37160,AAH04102,AAH04370,AAH08892,AAH21194,AAP35766,AAA51696,AAB46377,AAB26658,P30838,Q6PKA6,Q8N9T9,ABM83914 Hs.531682 ALDH3|ALDHIII|MGC10406 OTTHUMP00000065797|aldehyde dehydrogenase isozyme 3|aldehyde dehydrogenase type III|aldehyde dehydrogenase, dimeric NADP-preferring|stomach aldehyde dehydrogenase protein-coding 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] 1300048,1580863 8528251,19343046,18519826,18035827,17998529,17971613,17902024,17510064,16996289,9027499,7894487,7485163,16794583,15931689,15489334,15241804,15110319,14702039,12477932,11408337,10792573,10577908,9829906,9467812,9254849,9204959,9070922,19615732,20237496,20677014,20877624 224 NM_000382,NM_001031806,NG_007095,AC005722,AC115989,CH471212,U75286,U75295,U75296,AB208894,AK000858,AK025677,AK123877,AK292381,AK315096,BC002430,BG699030,CR457422,CR591336,CR749559,L47162,U46689 NP_000373,NP_001026976,EAW50898,EAW50899,EAW50900,AAC50966,AAC50965,BAD92131,BAF85070,BAG37560,AAH02430,CAG33703,CAH18356,AAB01003,AAC51121,P51648,Q59H65,Q68D64,Q6I9T3,ABM86806,ABW03828 Hs.499886 ALDH10|DKFZp686E23276|FALDH|FLJ20851|SLS OTTHUMP00000065801|aldehyde dehydrogenase 10|aldehyde dehydrogenase family 3 member A2|aldehyde dehydrogenase family 3, subfamily a2|fatty aldehyde dehydrogenase|microsomal aldehyde dehydrogenase protein-coding 1349903 ALDH3B1 aldehyde dehydrogenase 3 family, member B1 The aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular gene spans about 20 kb of genomic DNA and is composed of 9 coding exons. The gene is highly expressed in kidney and lung. The functional significance of this gene as well as the cellular localization of its product are presently unknown. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 7828891,19343046,19159868,17382292,16092759,15489334,14702039,12477932,9490025,9161417,20237496,20729348 221 NM_001030010,NM_001161473,NG_012282,AC004923,CH471076,AB209651,AK092029,AK291505,BC002553,BC013584,NM_000694,BC014168,BC019911,BC033099,BM561843,BT009832,EF411198,U10868 NP_000685,NP_001025181,NP_001154945,EAW74678,EAW74679,EAW74680,EAW74681,EAW74682,EAW74683,BAD92888,BAF84194,AAH02553,AAH13584,AAH14168,AAH33099,AAP88834,ABN58743,AAA83428,P43353,Q59F10,Q9BUJ8,ABM82378,ABM85557 Hs.523841 ALDH4|ALDH7|FLJ26433|FLJ34710 aldehyde dehydrogenase 3B1|aldehyde dehydrogenase 7|aldehyde dehydrogenase family 3 member B1 protein-coding 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] 1580863 8890755,19343046,15489334,15342556,14702039,12477932,10737800,9161417,7484374,20237496 222 NM_001031615,NM_000695,NG_012255,AP003385,CH471076,AK092464,AK299956,AK309277,BC007685,BG009508,BP313753,BT006810 NP_001026786,NP_000686,EAW74665,BAC03897,BAG61783,AAH07685,AAP35456,P48448,ABM92158,ABM84628 Hs.87539 ALDH8 acetaldehyde dehydrogenase 8|aldehyde dehydrogenase 8|aldehyde dehydrogenase family 3 member B2 protein-coding 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] 1580863 8621661,16710414,16341674,15489334,14986171,12477932,9700195,9373149,8125298,4851275,1286669,500817,14679154,19898482,20453000,20877624 8659 NM_003748,NM_170726,NM_001161504,NG_012283,AL080251,AL954340,BX537160,CH471134,AK222486,AK289972,AK294552,BC007581,BC023600,BM856369,BX649081,DC318624,U24266,U24267,FJ462711 NP_003739,NP_733844,NP_001154976,CAI23417,CAI23418,CAI39492,CAI39493,CAI39494,EAW94858,EAW94859,EAW94860,BAD96206,BAF82661,BAG57755,AAH07581,AAH23600,AAC50500,AAC50501,P30038,Q5TF55,ABM84431,ABM87488,ACN89883 Hs.77448 ALDH4|DKFZp779M035|P5CD|P5CDh P5C dehydrogenase|aldehyde dehydrogenase family 4 member A1|delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial|mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase protein-coding 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] 632258,1580863 16199352,9683595,7814412,15037717,19343046,19300440,19086053,18505418,17913586,17457693,16786440,16406321,15642443,15489334,14981524,20877624,14635103,14574404,12629812,12477932,12208142,11901270,11243727,9059628,6470007,20659789,19667317,20201926,20379614,20363598 632258 7915 NM_170740,NM_001080,NG_008161,AL031230,CH471087,X92753,AJ427353,AJ427354,AJ427355,AK025722,AK290800,AK294699,AK314357,AK315380,BC034321,L34820,Y11192 NP_733936,NP_001071,CAA20248,EAW55452,EAW55453,EAW55454,CAD20882,CAD20883,CAD20884,BAF83489,BAG57857,BAG37773,AAH34321,AAA67057,CAA72076,P51649,Q546H9,Q8N3W6,Q8N3W7,ABM82597,ABM85783 Hs.371723 SSADH|SSDH NAD(+)-dependent succinic semialdehyde dehydrogenase|OTTHUMP00000214394|aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)|aldehyde dehydrogenase family 5 member A1|aldehyde dehydrogenase family 5, subfamily a1|mitochondrial succinate semialdehyde dehydrogenase|succinate-semialdehyde dehydrogenase, mitochondrial protein-coding 1344188 ALDH6A1 aldehyde dehydrogenase 6 family, member A1 This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, 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. [provided by RefSeq] 633220,1580863 1527093,19343046,15909363,15489334,14718574,12477932,10947204,9373149,8125298,20585627,20379614,18029348,20877624 633220 4329 NM_005589,NG_012257,AC005484,AF148855,CH471061,AF038011,AF148505,AF159889,AJ249994,AK222687,AK223244,AK294243,AK311478,AK312389,AW418653,BC004909,BC032371,CR613362,M93405,XR_110223,XR_111458,XR_114763 NP_005580,AAG29581,EAW81158,EAW81159,EAW81160,AAB92620,AAF04489,AAF80380,CAB76468,BAD96407,BAD96964,BAG57539,BAG35306,AAH04909,AAH32371,AAA36328,O43573,Q02252,Q53FN8,Q53H94,ABM83847,ABM84606,ABW03530 Hs.293970 MGC40271|MMSADHA|MMSDH aldehyde dehydrogenase family 6 member A1|malonate-semialdehyde dehydrogenase|methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial|mitochondrial acylating methylmalonate-semialdehyde dehydrogenase protein-coding 1318489 ALDH7A1 aldehyde dehydrogenase 7 family, member A1 Antiquitin 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. Mutations in this gene cause pyridoxine-dependent epilepsy, which involves a combination of various seizure types and is responsive to immediate administration of pyridoxine hydrochloride. Four additional human antiquitin-like sequences, all of which are pseudogenes, have also been identified. [provided by RefSeq] 1580863 20562859,20207735,20639122,9417906,19294602,18854520,18717709,17721876,17433748,17088338,17068770,16491085,16344560,16159904,15489334,14702039,12766061,12477932,10978228,8088832,16169070,19128417,19142996,19885858,20072603,20512086,20814824,20877624 501 NM_001182,NG_008600,AC093535,AC099513,AF002696,CH471086,AK021800,AK092507,AK295526,AK297365,AK312459,AU135961,BC002515,BC071712,BC073174,CD678674,CR592154,CR595547,CR597044,CR597705,CR598983,CR599362,CR599602,CR602857,CR608879,CR609868,CR610995,CR611205,CR616518,CR617093,CR622161,DC375277,S74728,AI039375,AK123774,BG680326,BU153725,DB501575,NM_001201377,NM_001202404,XM_003120470,XM_003120471,XM_003120472,XM_003120473,XM_003120474,XM_003120475,XM_003120476,XM_003120477,XM_003120478 NP_001173,AAC51935,EAW48851,BAG58439,BAG59812,BAG35366,AAH02515,AAH71712,AAH73174,AAB31966,P49419,ACE87275,ACE86594,NP_001188306,NP_001189333,XP_003120518,XP_003120519,XP_003120520,XP_003120521,XP_003120522,XP_003120523,XP_003120524,XP_003120525,XP_003120526 Hs.483239,Hs.587300 ATQ1|EPD|FLJ11738|FLJ92814|PDE 26g turgor protein homolog|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 protein-coding 1352783 ALDH7A1P1 aldehyde dehydrogenase 7 family, member A1 pseudogene 1 16004729,9417906 541 NG_001082,AC022414,AF002693 ATQL1 antiquitin-like 1 pseudo 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. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 11007799,19343046,12477932,9373149,8125298,16344560 64577 NM_170771,NM_022568,NG_012261,AL021939,AL445190,CH471051,AF303134,AK074266,AK222848,AK290784,AK298325,BC020849,BC113862,BC114473,BX647324,BF590409,DA635162,NM_001193480 NP_739577,NP_072090,CAI20305,CAI20306,CAI95158,CAI95159,EAW47985,EAW47986,AAG42417,BAD96568,BAF83473,BAH12757,AAI13863,AAI14474,Q9H2A2,NP_001180409 Hs.486520 ALDH12|DJ352A20.2|DKFZp779D2315|MGC138650 OTTHUMP00000017250|OTTHUMP00000017251|aldehyde dehydogenase 8 family, member A1|aldehyde dehydrogenase 12|aldehyde dehydrogenase family 8 member A1|aldehyde dehydrogenase family protein protein-coding 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] 1300048,1580863 8112751,2925663,8645224,18029348,19343046,19064610,18334916,16710414,12477932,11790142,10702312,9417993,8786138,8269919,19536175,19615732,20379614,20562859,20877624 223 NG_012256,AL451074,CH471067,AF172093,AK293520,AK301767,AK302183,AK302191,AK302654,AK312751,BC011410,BC070030,BC151140,BC151141,CR615650,CR625299,U34252,U50203,NM_000696,X75425 NP_000687,CAH74061,EAW90758,AAF43600,BAG57002,BAG63226,BAG63549,BAG63554,BAG63893,BAG35618,AAI51141,AAI51142,AAB18827,AAB06721,CAA53176,P49189 Hs.2533 ALDH4|ALDH7|ALDH9|E3|TMABADH 4-trimethylaminobutyraldehyde dehydrogenase|R-aminobutyraldehyde dehydrogenase|aldehyde dehydrogenase (NAD+)|aldehyde dehydrogenase E3 isozyme|aldehyde dehydrogenase family 9 member A1|gamma-aminobutyraldehyde dehydrogenase protein-coding 735815 ALDOA aldolase A, fructose-bisphosphate This gene product, 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 of this gene results in multiple transcript variants which encode the same protein. [provided by RefSeq] 1580863,2302796,1599054,1599061,1300048,2325696 20362419,16712791,20029029,1008835,10048322,14766013,17329259,14615364,9244396,17641064,19242545,18328256,18278581,18214967,18029348,17081983,16916647,16344560,16289162,16236267,16097034,15952740,15592455,15489334,15231747,14760703,14669989,12665801,12477932,11876650,11399750,11287212,10369770,8598869,8103323,7821789,6696436,6406231,3840020,3674018,3570299,3441006,3391172,3355497,3046960,3030757,2825199,2335208,2229018,2065091,2056525,1999195,1602151,1353685,955981,844801,766744,14499622,19615732,19741270,20181627,20381070,20511553 2302796,1599054,1599061,2325696 226 CR602606,CR603228,CR603376,CR603458,CR604016,CR604188,CR604579,CR604738,CR604987,CR605203,CR605889,CR606828,CR607636,CR608182,CR608270,CR609612,CR609790,CR609848,CR610297,CR610948,CR612423,CR613285,CR614159,CR614487,CR615267,CR615451,CR615901,CR616711,CR617387,CR619926,CR620269,CR620329,CR620452,CR620834,CR620913,CR621054,CR621249,CR618398,CR622016,CR622195,CR622303,CR622309,CR622931,CR623675,CR624362,CR624465,CR624525,CR625362,CR625748,D28356,DA893541,EF036496,EF036497,M11560,M21190,NM_184043,NM_001127617,NM_184041,NG_008010,AC093512,CH471238,X06352,X12447,AK026577,AK098778,AK301993,NM_000034,AK308748,BC000367,BC004333,BC010660,BC012880,BC013614,BC015888,BC016170,BC016800,BE893518,BQ719865,BX647566,CB151262,CR536528,CR541880,CR590144,CR590693,CR591029,CR591040,CR591114,CR591320,CR592194,CR592372,CR592901,CR593461,CR593844,CR595043,CR595415,CR596108,CR596168,CR597349,CR598401,CR598685,CR599451,CR600065,CR600430,CR600497,CR601483,CR601868,AK308495,X05236 BAA05722,ABO65082,ABO65083,AAA51690,NP_000025,NP_908932,NP_001121089,NP_908930,EAW79933,EAW79934,EAW79935,EAW79936,CAA29654,CAA30979,BAG63399,AAH00367,AAH04333,AAH10660,AAH12880,AAH13614,AAH15888,AAH16170,AAH16800,CAG38765,CAG46678,CAA28861,AAA51697,P04075,ABM81991,ABM85172 Hs.513490 ALDA|GSD12|MGC10942|MGC17716|MGC17767 OTTHUMP00000162984|aldolase a|fructose-1,6-bisphosphate triosephosphate-lyase|fructose-bisphosphate aldolase A|lung cancer antigen NY-LU-1|muscle-type aldolase protein-coding 1343752 ALDOAP1 aldolase A, fructose-bisphosphate pseudogene 1 3674018 391538 NG_004867,AC006252,AC097637 pseudo 1345484 ALDOAP2 aldolase A, fructose-bisphosphate pseudogene 2 3674018,2828224 228 NG_005637,AL158835,M21191 Hs.652473 pseudo 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] 2313432,2313434,2313440,2313414,1599639,2313429,2302804,2302796,2313437,1300369,1599063,1580863 20162364,2410860,2336380,1967768,17576770,9244396,10625657,18000879,18029348,18700007,18541450,17955389,17457694,17292585,16406649,15880727,15532022,15063762,14966907,12477932,12464284,12417303,12205126,11752456,11679716,11399750,11241348,10970798,10024431,8535439,8299883,8162030,7717389,6689266,6585824,6548561,3383242,3016456,3000275,2830249,2649152,19817957,20033295 2313432,2313434,2313440,2313414,1599639,2313429,2302804,2302796,2313437,1300369,1599063 229 NM_000035,NG_012387,AL353621,CH471105,D00183,M15656,AK026411,AK290795,AV645373,AV656265,AW242415,BC029399,BG616536,CR600199,CR601412,CR604271,CR605801,CR606411,CR613920,CR617866,CR626275,X00270,X01098,X02747 NP_000026,CAI14614,CAI14615,EAW58951,EAW58952,BAA00125,AAA51691,BAF83484,AAH29399,CAA25072,CAA25572,CAA26526,P05062,Q8NHT3 Hs.530274 ALDB|ALDO2 OTTHUMP00000021804|aldolase 2|aldolase B, fructose-bisphosphatase|fructose-bisphosphate aldolase B|liver-type aldolase protein-coding 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] 1580863,2301132,2301133,2301134,2301136,734555,1300048 19405953,19110265,19034380,16916647,15589842,15537755,15489334,12477932,11876650,9110174,8619474,5230152,3674018,3267224,2731939,2209624,11399750,9244396,3105602,19686046,20381070 2301132,2301133,2301134,2301136,734555 230 NM_005165,AC005726,CH471159,X05196,X07292,AF054987,AK293453,AK293623,AK293693,AK294091,AK294157,AK296039,AK296053,AK312281,BC003613,BC065565,BC103760,BC106925,BC106926,BF345067,BT007006,CR541862,CR541881,CR596423,CR597512,CR598911,CR599491,CR599934,CR601362,CR601660,CR605176,CR607130,CR607349,CR607475,CR607848,CR608784,CR610173,CR610301,CR610835,CR611327,CR615116,CR622257,CR623048,CR625938,HI574194 NP_005156,EAW51104,EAW51105,CAA28825,CAA30270,AAC09348,BAH11512,BAH11551,BAH11572,BAH11668,BAH11685,BAH12243,BAH12245,BAG35210,AAH03613,AAH65565,AAI03761,AAI06926,AAI06927,AAP35652,CAG46660,CAG46679,P09972,CBX47586 Hs.155247 ALDC OTTHUMP00000163437|aldolase 3|aldolase c, fructose-biphosphate|brain-type aldolase|fructoaldolase C|fructose-1,6-biphosphate triosephosphate lyase|fructose-bisphosphate aldolase C protein-coding 1343915 ALDRL2 aldehyde reductase (aldose reductase)-like 2 8244370 233 1344311 ALFN1 activator of liver function 1 (hepatic phenotype restoration inducing sequence) 7940018 237 X15584 1321758 ALG1 asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) 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] 10704531,16344560,16303743,15489334,14973782,14973778,14709599,12975309,12477932,20379614 56052 NM_019109,NG_009202,AC026458,CH471112,CS051167,AA810665,AB019038,AK075373,AK298144,AK311475,AY359073,BC004402,BC031095,BC031873,BM767933,BQ002699,CA455103,CD366777,CR592042,CR597195,CR619322,CR624559,DA879477 NP_061982,EAW85240,EAW85241,CAI72079,BAA90748,BAC11576,BAG60420,AAQ89432,AAH04402,AAH31095,Q9BT22,ABM85936,ABW03760 Hs.592086 CDG1K|HMAT1|HMT-1|HMT1 GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase|GDP-mannose-dolichol diphosphochitobiose mannosyltransferase|MT-1|asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)|asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)|asparagine-linked glycosylation protein 1 homolog|beta-1,4 mannosyltransferase|beta-1,4-mannosyltransferase|chitobiosyldiphosphodolichol beta-mannosyltransferase|hMat-1|mannosyltransferase-1 protein-coding 1345350 ALG10 asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) 15489334,14702039,14525949,12477932,12200473,9722534,9597543,17903297,19204726 84920 NM_032834,AC046130,CH471116,AJ312278,AK027657,AK292488,BC022336,BC033730,BC070347,BC075807,BC090948,CR600259,CR623610,W05355,NG_016389 NP_116223,EAW88508,CAC41349,BAB55272,BAF85177,AAH70347,AAH90948,Q5BKT4,ABM82982,ABM86176 Hs.727708 DIE2|FLJ14751|KCR1 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 protein 10 homolog A|derepression of ITR1 expression 2 homolog|potassium channel regulator 1 protein-coding 1344377 ALG10B asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) 16344560,15280551,14702039,14525949,12477932,19483685 144245 CH471111,AK123102,AK307955,AY845858,BC137413,BC137414,BQ024224,DB224774,DB254106,NM_001013620,AC117372,CR622214 EAW57795,AAW31756,AAI37414,AAI37415,Q5I7T1,NP_001013642 Hs.259305 ALG10|KCR1 alpha-2-glucosyltransferase ALG10-B|asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase)|asparagine-linked glycosylation protein 10 homolog B|modifier of the HERG potassium channel|potassium channel regulator 1|putative alpha-1,2-glucosyltransferase ALG10-B protein-coding 1604899 ALG11 asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast) 17353931,16354793,12477932,20080937,15342556 440138 HH961780,NM_001004127,AL139082,AK025456,AK128503,AK296747,BC010857,BC073862,BC111022,BC142998,CR602797,BC108677,DC366525,NR_036571,NG_028038,BP373026 CBX51363,NP_001004127,CAI12889,CAI12890,BAG59331,AAH10857,AAH73862,AAI11023,AAI42999,Q2TAA5,AAI43060,AAI50317 Hs.512963 CDG1P|GT8|KIAA0266|UTP14C UTP14, U3 small nucleolar ribonucleoprotein, homolog C|asparagine-linked glycosylation protein 11 homolog protein-coding 1312492 ALG12 asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) 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] 12217961,15498874,15489334,15461802,15273506,15272470,12736397,12477932,12093361,11983712,10591208 79087 NM_024105,NG_008927,AL671710,CH471138,AF258571,AF318343,AJ290427,AJ303120,BC001729,BC098562,BM145575,CB858085,CR456369 NP_077010,CAO72064,EAW73480,EAW73481,EAW73482,AAG23774,AAL55850,CAC83681,CAC67488,AAH01729,AAH98562,CAG30255,Q8WY77,Q9BV10,CAK54650,CAK54949,ABM83756,ABM87075 Hs.526711 CDG1G|ECM39|MGC111358|MGC3136|PP14673|hALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)|asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)|asparagine-linked glycosylation protein 12 homolog|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 protein-coding 1348986 ALG13 asparagine-linked glycosylation 13 homolog (S. cerevisiae) 737633,1580863 16100110,15772651,15489334,12477932,8218172,2649653,2341393,2283726 737633 55849 NM_018466,AL096764,CH471120,AF220051,BC005336,CR604429 NP_060936,EAX02634,EAX02635,EAX02636,EAX02637,AAF67644,AAH05336,Q9NP73 Hs.659791 CXorf45|GLT28D1|MDS031|YGL047W protein-coding 1604512 ALG14 asparagine-linked glycosylation 14 homolog (S. cerevisiae) 16100110,15615718,15489334,12477932,17686769 199857 NM_144988,AC095033,AC105942,BX322578,CH471097,AK289395,BC011706 NP_659425,EAW73026,EAW73027,BAF82084,AAH11706,Q96F25 Hs.408927 MGC19780 UDP-N-acetylglucosamine transferase subunit ALG14 homolog protein-coding 1605265 ALG1L asparagine-linked glycosylation 1-like 12477932 200810 BI085096,CD685738,NM_001195223,AC092903,CH471052,BC073816,NM_001015050 NP_001182152,EAW79378,EAW79379,EAW79380,EAW79381,NP_001015050,AAH73816,Q6GMV1,ADR82727 Hs.591299 ALG1L1 asparagine-linked glycosylation 1-like 1|beta-1,4-mannosyltransferase-like|putative glycosyltransferase ALG1-like protein-coding 3378598 ALG1L2 asparagine-linked glycosylation 1-like 2 12477932 644974 AC083906,BI833803,CH471052,NM_001136152 C9J202,EAW79228,NP_001129624 Hs.722197 beta-1,4 mannosyltransferase-like|putative glycosyltransferase ALG1L2 protein-coding 1320554 ALG2 asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) 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] 12684507,14999017,11883939,12445460,16957052,17045351,17196169,11278427,16996505,19383317,19013425,18936101,17889823,16344560,16303743,15489334,15273506,15272470,15164053,14702039,12975309,12477932,16004603,12804766,20691033,19520058 85365 AK075172,AK075189,AY358697,BC015126,BC017876,DA076693,DB019023,NR_024532,NG_008928,AL137067,CH471105,CQ782967,CQ783609,AA017454,AB161356,AK027417,AK027814,AK074704,AK074988,NM_033087 BAC11449,AAQ89060,AAH17876,Q9H553,ABM82915,ABM86105,NP_149078,CAC07999,EAW58908,EAW58909,EAW58910,EAW58911,CAF86196,CAF86774,BAD11905,BAB55099,BAG51380,BAC11150,BAC11337 Hs.40919 CDGIi|FLJ14511|NET38|hALPG2 GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase|alpha-1,3-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 protein 2 homolog|homolog of yeast ALG2 protein-coding 1314369 ALG3 asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) 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] 1580863 10581255,16006436,15489334,15273506,15272470,15108280,12477932,8552211,1058125 10195 BX339649,CR592328,CR593059,CR594345,CR596636,CR601384,CR603692,CR603947,CR611890,CR616285,CR619480,CR620598,CR620912,CX761434,Y09022,NR_024533,NM_005787,NR_024534,NG_008924,AC061705,CH471052,AK289361,AK297701,AK299575,AW297350,BC002839,BC004313,BC021062,BM920198,NM_001006941,HC894865 CAA70220,Q92685,ABM84086,ABM87455,NP_001006942,NP_005778,EAW78282,EAW78283,BAF82050,BAG60059,BAG61512,AAH02839,AAH04313,CBN61874 Hs.478481 CDG1D|CDGS4|D16Ertd36e|NOT56L|Not56 Not56-like protein|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 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|dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase|dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase protein-coding 1318934 ALG5 asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) 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] 1580863 10359825,15489334,15342556,12477932,11042152,8889548 29880 NM_013338,NM_001142364,AL138706,CH471075,AF088028,AF102850,AF161498,AF183413,AI027225,AK299085,AK299126,BC012531,BF668393,BG482604,BP246765,BU739112,CB988638,CR625593 NP_037470,NP_001135836,CAI14011,EAX08577,EAX08578,AAD41465,AAF29113,AAG09682,BAG61149,BAG61179,AAH12531,Q9HC03,Q9Y673 Hs.507769 RP11-421P11.2|bA421P11.2 Alg5, S. cerevisiae, homolog of|asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase)|asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)|asparagine-linked glycosylation protein 5 homolog|dolP-glucosyltransferase|dolichyl phosphate glucosyltransferase|dolichyl-phosphate beta-glucosyltransferase protein-coding 1318803 ALG6 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 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] 1580863 10359825,11106564,16710414,16321363,15489334,14702039,14517965,12878157,12477932,12357336,12200473,11875054,11558905,11134235,10924277,10914684,9789065,9710431 29929 NG_008925,AL049636,AL592218,CH471059,AF063604,AF102851,AI479334,AK022700,AK295286,AU280221,BC001253,BI819904,CB215801,CR602025,CR618543,NM_013339 NP_037471,CAI22829,CAI18961,EAX06571,EAX06572,EAX06573,EAX06574,AAG43163,AAD41466,BAG51104,BAG58270,AAH01253,Q9Y672 Hs.258501 CDG1C Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase|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 protein 6 homolog|dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase|dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase|dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase protein-coding 1313512 ALG8 asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 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] 1580863 12200473,12480927,16344560,16303743,15489334,15273506,15272470,15235028,14702039,12477932,11124703,7566098,19648040,20379614 79053 CR595136,CR599637,CR607665,CR618228,CR620133,CR621003,CR623474,DB362104,BC017892,NM_024079,NM_001007027,NG_008926,AP002520,CH471076,AA375954,AJ224875,AK075184,AK075194,AK098614,AK125912,AK309050,BC001133 Q9BVK2,ACE87135,NP_076984,NP_001007028,EAW75048,EAW75049,EAW75050,EAW75051,CAA12176,BAG52080,AAH01133 Hs.503368 CDG1H|MGC2840 HUSSY-02|asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation protein 8 homolog|dolichyl pyrophosphate Glc1Man9GlcNAc2 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 protein-coding 1342764 ALG9 asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) 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] 1580863 16859551,16381901,16344560,15945070,15489336,15489334,15148656,14702039,12477932,12030331,11230166,11076863,9373149,8125298,14519663,19451548 79796 NM_024740,NM_001077690,NM_001077691,NM_001077692,NG_009210,AP001781,CH471065,AB096249,AF395532,AF454937,AK025498,AK172828,AK225261,AK298811,AK302630,AK308025,AL136927,BC009255,CR605278,DA257621 NP_079016,NP_001071158,NP_001071159,NP_001071160,EAW67152,EAW67153,EAW67154,EAW67155,EAW67157,EAW67158,EAW67159,AAL25798,AAP97696,BAB15154,BAD18793,BAG60945,BAG63872,CAB66861,AAH09255,Q9H6U8,CAL37889,CAL38056,ABM83687,ABM86990 Hs.727751 CDG1L|DIBD1|DKFZp586M2420|FLJ21845|LOH11CR1J 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 protein 9 homolog|disrupted in bipolar affective disorder 1|disrupted in bipolar disorder protein 1|loss of heterozygosity, 11, chromosomal region 1 gene J product protein-coding 1353820 ALK anaplastic lymphoma receptor tyrosine kinase The 2;5 chromosomal translocation is frequently associated with anaplastic large cell lymphomas (ALCLs). The translocation creates a fusion gene consisting of the ALK (anaplastic lymphoma kinase) gene and the nucleophosmin (NPM) gene: the 3' half of ALK, derived from chromosome 2, is fused to the 5' portion of NPM from chromosome 5. A recent study shows that the product of the NPM-ALK fusion gene is oncogenic. The deduced amino acid sequences reveal that ALK is a novel receptor protein-tyrosine kinase having a putative transmembrane domain and an extracellular domain. These sequences are absent in the product of the transforming NPM-ALK gene. ALK shows the greatest sequence similarity to LTK (leukocyte tyrosine kinase). ALK plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. [provided by RefSeq] 1600902,1580863 18974134,19167335,9053841,9174053,11121404,19506219,19459784,19423729,19386350,19305144,19286999,19135051,19074885,18990089,18923525,18923524,18923523,18845790,18724359,18660380,18615104,18594010,18593892,18458503,18451166,18414414,18320074,18242762,18220322,18166835,18165268,18097461,18083107,18070884,17998938,17922009,17904822,17690253,17681947,17537995,17490616,17274988,17077326,17071493,16880530,16878150,16835382,16825495,16766651,16709933,16651537,16623783,16604305,16565220,16254137,16161041,16153455,15938644,15933425,15928040,15886198,15713979,15592455,15583856,15226403,15161657,15004538,14962911,14656879,14563642,12800156,12763927,12213716,12185581,12122009,12115586,12112524,12036886,11943732,11888936,11877285,11850821,11809760,11387242,11278720,10556217,9819383,9490693,8633037,8122112,18927303,20731666,20970119,21070126,19887368,20805506,20428197,20424160,20695522,20554525,19131589,20632993,10641597,14968112,18549625,18677384,18788887,19147828,19176054,19250532,19531656,19535344,19589272,19636007,19656549,19656550,19667264,19671850,19717436,19723661,19737969,19834503,20009909,20101209,20169312,20185586,20379614,16344560,19383809,21030459,20621063,20624322,20719933,20098747,20393185,20934803,21129606,21164297,20451371 1600902 238 NM_004304,NG_009445,AC074096,AC093756,AC098874,AC106870,AC106899,CH471053,AB209477,AB374361,AB374362,AK296218,EU788003,EU788004,EU788005,EU788006,EU788007,EU788008,EU788009,EU788010,U62540,U66559,GU128152,GU128153,GU128154,GU128155,GU128156,GU128157,DA455128,GM868985 NP_004295,AAY15027,AAX88892,AAX76514,AAX93126,EAX00506,EAX00507,EAX00508,BAD92714,BAG55003,BAG55004,BAG58942,ACI47591,ACI47592,ACI47593,ACI47594,ACI47595,ACI47596,ACI47597,ACI47598,AAB71619,AAC51104,Q580I3,Q9UM73,AAI56208,AAI57091,ACY79560,ACY79561,ACY79562,ACY79563,ACY79564,ACY79565,CAT16962 Hs.654469 CD246|NBLST3|TFG/ALK ALK tyrosine kinase receptor|CD246 antigen|anaplastic lymphoma kinase|anaplastic lymphoma kinase (ki-1) protein-coding 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] 1580863 8600462,18603530,15489334,12594517,12508121,12477932,19959401 8846 NM_006020,AC008044,CH471061,BC015024,BC025787,BX537699,CR604550,X91992 Q5XKL0,NP_006011,AAF01478,EAW81300,EAW81301,EAW81302,AAH15024,AAH25787,CAA63047,Q13686,ABM92160,ABM84629 Hs.94542 ABH|ABH1|ALKBH|alkB|hABH DNA lyase ABH1|alkb, alkylation repair homolog (e. coli)|alkylated DNA repair protein alkB homolog 1|alkylation repair, alkB homolog|alpha-ketoglutarate-dependent dioxygenase ABH1 protein-coding 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] 12486230,18519673,18432238,18270339,16344560,16341674,16174769,15489334,15146197,12594517,12477932,20661249,18775698,19290481,20042601,20714506,17207965,20525795 121642 NR_026931,NM_001001655,NR_026930,NM_001145375,AC011596,CH471054,CQ786763,AB277859,AI278638,AK309062,AY754389,BC070489,BM785502,BM790974,BM820131,BU623121,CN421655,CR597009,CR601252,CR623288,NM_001145374,DA182735 NP_001138846,NP_001001655,NP_001138847,EAW97845,CAG17897,BAF56576,AAV28301,AAH70489,Q6NS38,ADQ32022 Hs.374458 ABH2|FLJ99103|MGC90512 2OG-Fe(II) oxy DC1|alkylated DNA repair protein alkB homolog 2|alpha-ketoglutarate-dependent dioxygenase alkB homolog 2|oxy DC1 protein-coding 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] 18029348,20970119,20525795,12486230,17968469,16858410,16344560,16174769,15489334,14702039,12594517,12477932,8570611,20714506 221120 NM_139178,AC087521,CH471064,CQ786761,DQ196343,AB042029,AK125602,AK315266,BC015155,BC067257,BC103812,BC103813,BC103814,CD364334,CR602476,CR612017,CR615997,CR621454,CR623815,DA685031,U38442 NP_631917,EAW68078,EAW68079,CAG17896,ABA27096,BAB70508,AAH15155,AAH67257,AAI03813,AAI03814,AAI03815,Q96Q83 Hs.720708 ABH3|DEPC-1|DEPC1|FLJ43614|MGC118790|MGC118792|MGC118793|PCA1 alkylated DNA repair protein alkB homolog 3|alpha-ketoglutarate-dependent dioxygenase alkB homolog 3|prostate cancer antigen 1|prostate cancer antigen-1 protein-coding 1603303 ALKBH4 alkB, alkylation repair homolog 4 (E. coli) 15489334,14702039,12477932,9373149,17207965,17979886,8125298 54784 NM_017621,AC093668,CH471197,CS300642,AK000020,AK026097,AK222689,BC002820,BC017096,BX353099,CA420615 NP_060091,EAW50249,CAK32306,BAA90888,BAB15358,BAD96409,AAH02820,AAH17096,Q9NXW9,ADQ31831 Hs.658598 ABH4|FLJ20013 alkylated DNA repair protein alkB homolog 4|probable alpha-ketoglutarate-dependent dioxygenase ABH4 protein-coding 1603209 ALKBH5 alkB, alkylation repair homolog 5 (E. coli) 15489334,12477932,11997338,8889548,14702039 54890 NM_017758,AC087164,AC109515,CH471196,AK000129,AK000315,AK025817,AK301107,AK311161,AK311511,AL137263,BC062339,BI823385,BU740432 NP_060228,EAW55661,EAW55662,BAA91078,BAG62706,AAH62339,Q6P6C2 Hs.462392 ABH5|FLJ20308|OFOXD|OFOXD1 alkylated DNA repair protein alkB homolog 5|oxoglutarate and iron-dependent oxygenase domain containing|probable alpha-ketoglutarate-dependent dioxygenase ABH5 protein-coding 1605913 ALKBH6 alkB, alkylation repair homolog 6 (E. coli) 12477932,8889548 84964 NM_198867,AC002116,AB273714,AK304805,AK310130,AK310704,AK314150,AK315894,BC007601,BC036061,BC105801,BM713594,BU963363,CR596548,CR604192,NM_032878 NP_116267,NP_942567,BAF63844,BAG65555,BAG36837,BAF98785,AAI05802,Q3KRA9 Hs.71941 ABH6|MGC15677 OTTHUMP00000180599|alkylated DNA repair protein alkB homolog 6|alkylation repair homolog 6|probable alpha-ketoglutarate-dependent dioxygenase ABH6 protein-coding 1352016 ALKBH7 alkB, alkylation repair homolog 7 (E. coli) 737633 9373149,8125298,12477932,15489334,12975309 737633 84266 BM271861,BX334356,NM_032306,AC011491,CH471139,AK223336,AK311956,AY358858,AY427650,BC004393 NP_115682,EAW69102,BAD97056,BAG34896,AAQ89217,AAR24624,AAH04393,Q9BT30 Hs.111099 ABH7|MGC10974|SPATA11|UNQ6002 alkylated DNA repair protein alkB homolog 7|probable alpha-ketoglutarate-dependent dioxygenase ABH7|spermatogenesis associated 11|spermatogenesis cell proliferation related protein|spermatogenesis cell proliferation-related protein|spermatogenesis-associated protein 11 protein-coding 1602194 ALKBH8 alkB, alkylation repair homolog 8 (E. coli) 19293182,14702039,12477932,20308323,17207965 91801 NM_138775,AP001823,CH471065,AB218768,AF086489,AK095523,AK293603,AK298800,AK304413,BC015183,BX649085 NP_620130,EAW67088,EAW67089,EAW67090,BAG16270,BAC04566,BAG57067,BAG60935,BAG65244,AAH15183,Q96BT7,ADQ31655 Hs.503763 ABH8|FLJ38204|MGC10235 AlkB homologue 8|OTTHUMP00000211286|OTTHUMP00000211287|S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8|alkylated DNA repair protein alkB homolog 8|probable alpha-ketoglutarate-dependent dioxygenase ABH8 protein-coding 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] 1580863 16344560,15815621,15489334,12477932,12036579,11054555 55821 NM_018436,AC010907,CH471053,AF215924,AF395820,AK302299,BC029652,BC035356,DB054905 NP_060906,AAY24236,EAX01050,EAX01051,AAF67097,AAK72970,BAG63639,AAH29652,AAH35356,Q8N6M5 Hs.97899 ALC allantoate amidinohydrolase|probable allantoicase protein-coding 1323128 ALMS1 Alstrom syndrome 1 This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined. 1601169,1580863,1576431 15855349,19091203,18506366,17594715,16601972,15815621,15489334,14654843,14646408,12827243,12477932,12168954,11941370,11941369,10598815,9205841,9063741,12421765,11076968,12221128,12852856,16462731,19283855,20379614,20381594,20383146,7790358,19913121,20628086,20801516,20383145 1601169,1576431 7840 NM_015120,NG_011690,AC074008,AC092653,AC096546,CH471053,AB002326,AJ417593,AL832273,AL833495,BC035025,BC050330,BX647706,BX648632,EF151141 NP_055935,AAY24208,AAX82023,EAW99728,EAW99729,EAW99730,EAW99731,BAA20786,CAD10391,AAH35025,AAH50330,ABL96615,Q8TCU4 Hs.184720 ALSS|DKFZp686A118|DKFZp686D1828|KIAA0328 Alstrom syndrome protein 1|OTTHUMP00000202401 protein-coding 1606431 ALMS1P Alstrom syndrome 1 pseudogene 16344560,12477932,20383145 200420 NR_003683,AC092653,CH471053,AK307160,BC014492,DA427693 EAW99725,EAW99726,Q96L16,ABM83977,ABM87298 Hs.278983 ALMS1L pseudo 1322469 ALOX12 arachidonate 12-lipoxygenase 1578309,1578308,2313845,2313877,2313872,2313875,2315607,2315608,2315609,2315610,2315611,1578303,1580863 20382140,20653566,2217179,2377602,10727209,15105833,15305153,14669797,15111312,12858336,14767568,15010818,15107407,19328558,19046748,18992148,18640486,18755188,18676680,18547056,18504448,18187376,17893696,17520163,17460548,17379189,17236225,17192687,17151091,17045234,16788089,16638750,16598376,16514435,16482570,16118214,15797645,15729574,15489334,15308583,15142951,14532840,12907138,12731864,12664578,12664573,12664313,12538614,12477932,12394183,11914583,10760478,10446449,9082968,8912711,8641843,8304420,7868854,3926763,3406043,2244907,1570320,1447217,15474031,18086569,19170196,19423540,19469483,19625176,19663136,19692168,19885615,19948975,20061896,20089617,20181616,20406964,20431935,20438785,20453000,21094135,19913121,20592751,20626912,20628086,20697415 1578309,1578308,2313845,2313877,2313872,2313875,2315607,2315608,2315609,2315610,2315611,1578303 239 NM_000697,AC040977,AY527817,CH471108,D12638,M87004,AF143883,BC069557,M35418,M58704,M62982,S68587,S68588 NP_000688,AAS00094,EAW90281,BAA02162,AAA51587,AAD32700,AAH69557,AAA60056,AAA59523,AAA51533,AAD14020,AAD14021,P18054,Q16120 Hs.654431 12-LOX|12S-LOX|LOG12 12(S)-lipoxygenase|12S-lipoxygenase|arachidonate 12-lipoxygenase, 12S-type|platelet 12-LOX|platelet-type 12-lipoxygenase|platelet-type lipoxygenase 12 protein-coding 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] 1578309,1580863 9618483,19372141,19131948,19064572,19023099,18347291,17975119,17436029,17139268,15629692,15489334,14702039,12664578,12477932,11773004,11368351,11350124,10727209,9837935,18086569,19423540,19558494,19890349,20406964,20438785 1578309 242 NM_001139,NG_007099,AC129492,AJ305026,AJ305027,CH471108,AF038461,AF059250,BC041058 NP_001130,CAC34520,EAW90095,AAC39770,AAC79680,AAH41058,O75342 Hs.136574 12R-LOX 12R-lipoxygenase|arachidonate 12-lipoxygenase, 12R-type|epidermis-type lipoxygenase 12 protein-coding 1606590 ALOX12P1 arachidonate 12-lipoxygenase pseudogene 1 1570320 243 NG_000844,AC005562,AC011840 ALOX12P pseudo 1354244 ALOX12P2 arachidonate 12-lipoxygenase pseudogene 2 12477932,9691181,1570320 245 NR_002710,AC027763,AF020775,AF020774,AL832768,BC041851 Hs.378695 ALOX12E|MGC43625 pseudo 1352372 ALOX15 arachidonate 15-lipoxygenase 70288,1580863 18029348,20382140,20649594,20861348,19131661,19131063,19089921,19046748,18799463,18785202,18774388,18755188,18692814,18684974,18676680,18647347,18547056,18392641,18239141,18227726,18198215,18187376,18180398,18090132,18067895,17991885,17959182,17662651,17652958,17520163,17439326,17344094,17227895,17164146,17043146,16997127,16847316,16820097,16598376,16556493,16357157,16320347,16179498,16000313,15996861,15967444,15912043,15879104,15838625,15489334,15459485,15194425,15111312,14757756,14643174,12907138,12748293,12731864,12664628,12664577,12477932,12084190,11956198,11861792,11475334,11196700,11023533,10464294,9931410,9822675,9700053,9414270,9224951,7961680,3356688,3202520,2719708,2010530,1944593,1825526,1733732,1729692,3202857,10200270,19325142,19198625,1662607,1570320,1566855,21094135,17711445,19130894,19170196,19296842,19423540,19429775,19453261,19469483,19481615,19497113,19528634,19568414,19576981,19625176,19663136,19692168,19752603,19775287,19942621,19948975,20308035,20406964,20438785,19913121,20485444,20592751,20628086,20676957,20668019 70288 246 NM_001140,AC118754,AY505111,CH471108,U63384,U88317,AK290309,AK296792,AK296821,AK296904,AK312557,AK316126,BC029032,M23892,M95923 NP_001131,AAR84235,EAW90427,EAW90428,AAC52118,AAB49305,BAF82998,BAH12431,BAH12437,BAH12452,BAG35454,BAH14497,AAH29032,AAA36182,AAA35482,P16050,Q12938 Hs.73809 15-LOX-1|15-LOX2|15LOX-1 15-LOX|15-lipooxygenase-1|arachidonate 15-lipoxygenase|arachidonate omega-6 lipoxygenase protein-coding 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] 1578310,1580863 11839751,9177185,19064572,18156936,17139268,16682954,16556493,15799828,15797645,15489334,15342556,15247906,12704195,12659684,12477932,11350124,10542053,2318885,20428779,19423540,19645454,19661680,20406964,20438785,20677014,20668019 1578310 247 NM_001039130,NM_001039131,AC129492,AF149095,AJ305028,AJ305029,AJ305030,AJ305031,NM_001141,CH471108,AF468051,AF468052,AF468053,AF468054,AK292779,AK298095,AK300554,BC033294,BC035217,BC063647,BP327830,CA307212,CA405703,U78294 NP_001132,NP_001034219,NP_001034220,AAD37786,CAC34521,EAW90097,EAW90098,EAW90099,EAW90100,EAW90101,EAW90102,AAL76274,AAL76275,AAL76276,AAL76277,BAF85468,BAG60380,BAG62260,AAH35217,AAH63647,AAB61706,O15296,ABM82271,ABW03380 Hs.111256 15-LOX-2 15-LOX-B|15-lipoxygenase 2|15S-lipoxygenase|arachidonate 15-lipoxygenase 2|arachidonate 15-lipoxygenase B|arachidonate 15-lipoxygenase type II|arachidonate 15-lipoxygenase, second type|arachidonate omega(6) lipoxygenase protein-coding 1345047 ALOX15P arachidonate 15-lipoxygenase pseudogene 11350124 342531 NG_009476,AC004706 ALOX15P pseudo 4144232 ALOX15P2 arachidonate 15-lipoxygenase pseudogene 2 642959 AADB02012657,ABBA01018599,AL136981,AL389924 pseudo 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 have been observed, but their full-length nature has not been determined. [provided by RefSeq] 734559,1626154,1626153,1626152,1300048,1578311,632195,1626150,1626151,2313910,1331525,734558,734557,1580863,2317527,2317529,2317531,2317535,2317536,2317521,2317523,2317524,2317522,2317525,2317533,4890414,4890432,4890435,4890413,4890422,4890423,4890433,4890410,4890411,4890419,4890430,4890415,4890434,4890418,4890420,4890421,4890407,4890429,4890405,4890417 10514459,9445303,9435249,9373149,9150468,9079648,8585605,8268460,8245774,8125298,8066098,7929073,7624354,7556168,10051563,3422434,3134355,2565035,2251250,1939225,1540191,12354292,9639560,2829172,11297527,11785969,19423540,19258923,19247692,19233132,19214143,19134178,19131661,19130089,19083497,19075240,19053751,19022417,18996667,18992148,18991687,18978352,18976020,18927292,18843019,18842779,18678882,18676680,18571838,18525291,18421434,18421027,18398223,18369664,18366797,18339529,18295198,18280718,18218859,18204779,18180307,18179798,18174194,17924829,17909879,17894944,17825794,17521309,17500032,17467166,17460547,17434678,17373938,17373700,17236225,17115186,17080223,17072961,17703412,17616938,17018618,16924104,16919603,16899822,16750418,16733792,16698924,16672272,16537708,16531984,16495221,16413224,16402861,16364163,16361798,16293801,16275640,16165096,16135563,15933245,15923196,15848143,15661803,15616590,15308583,15301234,15280375,15219851,15010818,14767568,14749922,14702425,14532840,12911785,12907138,12893830,12859962,12751769,12751768,12751728,12730086,12695552,12664574,12629151,12525578,12477932,12234060,12163367,12140292,12111389,12107604,12021253,11844797,11796736,11471199,11462800,10779545,10673219,16385451,19170196,19390118,19446447,19450127,19473080,19497113,19524426,19578796,19625176,19692168,19717473,19724895,19807693,19851296,19888660,19893172,19919819,19948975,20110601,20126469,20128419,20173757,20198315,20388081,20406964,20453000,20503287,20438785,20139978,20382140,19913121,20592751,20628086,20677014,20682687,20372792,20549218,21098726 734559,1626154,1626153,1626152,1578311,632195,1626150,1626151,2313910,1331525,734558,734557,2317527,2317529,2317531,2317535,2317536,2317521,2317523,2317524,2317522,2317525,2317533,4890414,4890432,4890435,4890413,4890422,4890423,4890433,4890410,4890411,4890419,4890430,4890415,4890434,4890418,4890420,4890421,4890407,4890429,4890405,4890417 240 NM_000698,NG_011437,AL731567,CH471160,J04520,M38191,AB208946,AK225603,AK315223,BC034464,BC040450,BC130332,BC132677,BC143985,BC143986,BQ003253,J03571,J03600,HM592261,HM592258,HM592259,HM592260 NP_000689,CAI41243,EAW86642,EAW86643,AAA59522,AAA63212,BAD92183,AAI30333,AAI32678,AAI43986,AAA65450,AAA36183,P09917,Q59H13,ADR30801,ADR83089,ADR30798,ADR30799,ADR30800 Hs.89499 5-LO|5-LOX|5LPG|LOG5|MGC163204 5-lipoxygenase|arachidonate 5-lipoxygenase|arachidonic 5-lipoxygenase alpha-10 isoform|arachidonic 5-lipoxygenase delta-10-13 isoform|arachidonic 5-lipoxygenase delta-13 isoform|arachidonic 5-lipoxygenase delta-p10 isoform|arachidonic acid 5-lipoxygenase|leukotriene A4 synthase protein-coding 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. [provided by RefSeq] 1578317,632195,2313883,2313884,2313886,2313891,2313892,2313900,2313902,2313907,2311309,2313910,69749,2313931,2313895,2313903,2313905,2313913,2313888,1331525,1580863,734558,4890422,4890409,1626154,4890421,4890407 16144515,16127181,15886380,15876305,15861005,15784112,15731479,15640973,15593193,15489334,15057823,14770184,14749922,14702425,12911785,12629151,12571239,12477932,11090070,11035107,10036194,9445303,9435249,8777565,8703034,8440384,8071328,8049076,7938075,2300173,1857337,1673682,1588922,19233132,17600184,8245774,19417766,19373490,19361804,19336475,19166692,19131661,19130089,19126581,19046748,18977990,18945963,18843019,18775537,18547289,18506375,18398440,18398223,18374923,18369664,18366797,18323512,18318662,18084092,17655870,17627106,17505527,17460547,17387518,17304054,16939001,16778124,16282974,19288030,19423540,19450127,19524426,19596330,19622707,19729601,19948975,20014490,20067482,20128419,20194722,20357438,20369037,20376802,20379614,20406964,20438785,20485444,20592751,20810156 1578317,632195,2313883,2313886,2313891,2313892,2313900,2313902,2313907,2311309,2313910,69749,2313931,2313895,2313903,2313905,2313913,2313888,1331525,734558,4890422,4890409,1626154,4890421,4890407 241 NM_001629,NG_011963,AL512642,AY619687,CH471075,M60470,M63259,M63260,M63261,M63262,AK314143,BC018538 NP_001620,CAH74084,AAT38104,EAX08467,AAA35845,AAH18538,P20292,ABM82573,ABM85762 Hs.507658 FLAP MK-886-binding protein|arachidonate 5-lipoxygenase activating protein|arachidonate 5-lipoxygenase-activating protein protein-coding 1314765 ALOXE3 arachidonate lipoxygenase 3 The leukotrienes constitute a group of arachidonic acid-derived compounds with biologic activities suggesting important roles in inflammation and immediate hypersensitivity. These compounds are catabolized, in part, by lipoxygenases. Epidermis-type lipoxygenases, a distinct subclass within the multigene family of mammalian lipoxygenases, are novel isoenzymes isolated from human and mouse skin including human ALOX15B (MIM 603697), human and mouse ALOX12B (MIM 603741), mouse 8S-LOX, and mouse e-LOX-3.[supplied by OMIM] 1599073,1580863 19131948,19064572,17436029,17139268,17045234,16344560,15629692,15489334,14702039,12477932,11773004,11350124,19423540,19890349,20406964,20438785,20921226,20923767 1599073 59344 AC129492,AJ305020,AJ305021,AJ305022,AJ305023,AJ305024,AJ305025,CH471108,AF182218,AJ269499,AK292732,AK296416,AK299742,AK313677,NM_021628,BC101938,BC101939,BC103508,BC104724,DA183156,DC376381,NG_015807,NM_001165960 BAG36428,NP_067641,CAC34518,EAW90093,EAW90094,AAG16899,CAC12843,BAF85421,BAH12346,BAH13114,AAI01939,AAI01940,AAI03509,AAI04725,Q9BYJ1,NP_001159432 Hs.232770 E-LOX|MGC119694|MGC119695|MGC119696|eLOX3 OTTHUMP00000135319|e-LOX-3|epidermal lipoxygenase|epidermis-type lipoxygenase 3 protein-coding 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] 1300048,1580863 2841341,18307834,18292227,17498884,16344560,15831710,15774940,15715171,15302935,15143152,12919939,12660142,12577238,12477932,12466148,12372831,11352565,9755994,8449034,8240697,7482591,3697102,3687940,3469665,3468508,3458202,3443302,1458595,1321014,17353931,17139249,19407215,20489044 248 NM_001631,AC068134,CH471063,J03930,Y00512,AA190871,AK313163,BC132678,DA925041,M15694,M21499,M31008 NP_001622,AAY24089,EAW70997,EAW70998,AAA98617,CAA68564,BAG35981,AAI32679,AAA51703,AAA51704,P09923 Hs.37009 IAP Kasahara isozyme|alkaline phosphatase 1, intestinal, defined by ssr|alkaline phosphomonoesterase|glycerophosphatase|intestinal alkaline phosphatase|intestinal-type alkaline phosphatase protein-coding 1351787 ALPK1 alpha-kinase 1 Unlike most eukaryotic kinases, alpha kinases, such as LAK, recognize phosphorylation sites in which the surrounding peptides have an alpha-helical conformation.[supplied by OMIM] 1580863 16344560,15883161,15489334,15221005,14702039,12477932,12168954,10819331,10737800,10021370,20332099 80216 NM_025144,NM_001102406,AC004049,CH471057,AB040960,AB075877,AK026323,AK026715,AK091872,AK097246,AK131090,AK303489,AK304708,AY044164,BC028117,BC060780,BE155590,BX648798,DB250317 NP_079420,NP_001095876,EAX06274,EAX06275,EAX06276,BAA96051,BAD38659,BAB15444,BAG53440,BAC85140,BAG64524,BAG65473,AAK94675,Q96QP1,Q9H623 Hs.652825 8430410J10Rik|FLJ22670|KIAA1527|LAK OTTHUMP00000219656|alpha-protein kinase 1|chromosome 4 kinase|lymphocyte alpha-kinase|lymphocyte alpha-protein kinase protein-coding 1343226 ALPK2 alpha-kinase 2 14702039,10021370,19690890 115701 NM_052947,AC104971,AC105105,CH471096,AK092133,AK092194,AK125243,AL832018,AY044450,BX647446,BX647639,BX647796 NP_443179,EAW63077,BAC03812,CAD89922,AAK95952,Q86TB3,AAI72418 Hs.628152 FLJ34875|FLJ43253|HAK alpha-protein kinase 2|heart alpha-kinase|heart alpha-protein kinase protein-coding 1344760 ALPK3 alpha-kinase 3 1580863 14702039,12477932,11418590,10718198,10021370 57538 NM_020778,AC012291,AC103741,CH471101,AB037751,AK022943,AK024829,AK026851,AK300484,AL109725,AL109780,AL365516,AL832372,AL833276,AL833288,AY044449,BC016870,BC040192,BC067284 NP_065829,EAX01960,BAA92568,BAG62199,AAK95951,Q96L96 Hs.459183 FLJ12881|FLJ21176|KIAA1330|MAK|MIDORI alpha-protein kinase 3|muscle alpha-kinase|muscle alpha-protein kinase|myocyte induction differentiation originator protein-coding 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, which encode the same protein, have been identified for this gene. [provided by RefSeq] 1601171,1601173,2315616,2315619,1599076,1580863,1601172,1601177,1601174 19860546,14517339,1409720,20175736,18328985,20355242,17023519,9781036,19500388,19453261,19423565,19419944,19303062,19084045,19012630,18940312,18769922,18724009,18665784,18605934,18579124,18523927,18500657,18496130,18469019,18455459,18422967,18158785,18037100,18029348,17922851,17719863,17563703,17516619,17395561,17253930,17242729,17229666,17195227,17043047,16932897,16893177,16681433,16602701,16583221,16344560,15824850,15694177,15660230,15629439,15562030,15489334,15476587,15248185,15230135,15208311,15135428,14756545,14702039,15146197,18572267,19335222,19631305,19641839,19729429,19751416,12920074,12815606,12788869,12638946,12477932,12412800,12397600,12372831,12357339,11999978,11855933,11834095,11810413,11760847,11745997,11528114,11479741,11438998,11073119,10865224,10834525,10737975,10690885,10679946,10508980,10332035,10094560,9844100,9823315,9814472,9747027,9192863,8954059,8406453,7833929,7509208,6933471,3954357,3532105,3446011,3410475,3174660,3165380,2928120,2346496,2220817,1458595,1321014,19751417,19856264,19884277,19888898,19931660,20048161,20231843,20379614,20558539,20345388,20634292,20809279,20924064 1601171,1601173,2315616,2315619,1599076,1601172,1601177,1601174 249 AK097413,AK293184,AK295608,AK298085,AK312667,BC021289,BC066116,BC090861,BC110909,BC126165,BC136325,DA625627,DA631560,NM_001127501,NG_008940,AL359815,AL592309,CH471134,D87874,D87875,D87876,D87877,D87878,D87879,D87880,D87881,D87882,D87883,D87884,D87885,D87886,D87887,D87888,D87889,M24428,M24439,X53750,AB011406,AB012643,AB209814,NM_000478,CN425768,DA574668,NM_001177520 BAH11467,BAH12123,BAH12722,BAG35549,AAH21289,AAH66116,AAH90861,AAI10910,AAI26166,AAI36326,P05186,Q9UIL5,NP_000469,NP_001120973,CAI16249,CAI16259,CAH72079,EAW94974,EAW94975,EAW94976,EAW94977,AAB59378,BAA32129,BAA88367,BAD93051,NP_001170991,ADR83041 Hs.75431 AP-TNAP|APTNAP|FLJ40094|FLJ93059|HOPS|MGC161443|MGC167935|TNAP|TNSALP alkaline phosphatase liver/bone/kidney isozyme|alkaline phosphatase, tissue-nonspecific isozyme|alkaline phosphomonoesterase|glycerophosphatase|liver/bone/kidney-type alkaline phosphatase|tissue-nonspecific ALP protein-coding 1314395 ALPP alkaline phosphatase, placental (Regan isozyme) 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] 1580863 3042787,12493773,18802949,18752324,18416535,16893177,16815919,16431676,16344560,16303743,15946677,15815621,15715171,15489334,14595869,12851398,12477932,12372831,12081485,11937510,11857742,11352565,11124260,6651840,3512548,3461452,3459156,3443302,3422741,3001717,2891112,2153284,1730777,1321014,11278620,12616539,11938765,19595020,19570815,19574883,2133555,20655896,20693656,20299338,20663553 250 M14169,M14170,NG_012189,AC068134,CH471063,M19159,M19161,AF217992,AK075432,AK312931,BC009647,BC068501,BC094743,CR599162,CR621490,DA851165,M12551,M13077,NM_001632,HC006778 AAA51708,AAA51709,P05187,NP_001623,AAY24087,EAW70991,AAA51710,AAA51705,BAG35774,AAH09647,AAH68501,AAH94743,AAA51706,AAC97139,CBH19195 Hs.284255 ALP|FLJ61142|PALP|PLAP PLAP-1|Regan isozyme|alkaline phosphatase Regan isozyme|alkaline phosphatase, placental (Regan isozyme)|alkaline phosphatase, placental type|alkaline phosphomonoesterase|glycerophosphatase|placental alkaline phosphatase 1 protein-coding 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] 1580863 1722150,1581814,2162249,17009260,16412386,16344560,15815621,15489334,12477932,12372831,11937510,11124260,10471145,9823315,7166303,6814793,6651840,3674755,3519002,3512548,3461452,3459156,3443302,3422741,3387245,3042787,3001717,2921344,2834730,2745460,2578098,2297757,2171580,2153284,2009524,1730777 251 NM_031313,AC068134,CH471063,CS223387,J03252,M19160,X07247,AB012642,AI982769,AK293017,BC014139,DB194270,J04948,X53279,X55958 NP_112603,AAY24088,EAW70994,EAW70995,EAW70996,CAJ46933,AAA98616,AAA51707,CAA30232,BAA88366,BAF85706,AAH14139,AAA51700,CAA37374,CAA39425,P10696,Q9UIL6 Hs.333509 ALPG|ALPPL|GCAP ALP-1|Nagao isozyme|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 protein-coding 1346648 ALPPP alkaline phosphatase, pseudogene 11352565 260330 AF307337 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] 1599080,1580863 15247254,16670179,12837691,16049005,11586298,17239822,16085057,15371724,19122027,19023603,18810511,18523452,17955197,17698795,16249884,15579468,15489334,15388334,15342556,14970233,14702039,14676054,14668431,12919135,12866199,12601111,12477932,12168954,12145748,12138710,11687798,11586297,10997877,9933298,9889004,8889548,15324660,20379614 1599080 57679 NM_020919,NM_001135745,NG_008775,AC007242,AC007279,CH471063,AB046783,AB053305,AB053306,AF391100,AK023024,AK056413,AK291029,BC029174,BC071576,BM560426,BM978733,BP348546,BU623061 NP_065970,NP_001129217,AAX93181,AAY15058,EAW70291,EAW70292,EAW70293,BAB13389,BAB69014,BAB69015,AAL14103,BAB14362,BAG51702,BAF83718,AAH29174,AAH71576,Q6IQ41,Q96Q42 Hs.471096,Hs.621812 ALS2CR6|ALSJ|FLJ31851|IAHSP|KIAA1563|MGC87187|PLSJ OTTHUMP00000206119|OTTHUMP00000206122|alsin|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein|amyotrophic lateral sclerosis 2 protein protein-coding 1605837 ALS2CL ALS2 C-terminal like 17239822,15388334,14702039,12477932,8889548,16344560 259173 NM_147129,NM_182775,AC104304,AC134504,AF235535,CH471055,AB107015,AK074118,AK092455,AK093844,AK096091,AK097225,AK126505,AK131270,AK131273,AL832132,AL832203,AL833107,BC042906,BC061883,BC075825,BC109233,BU685010,CR627258,DA242202,DB350037,NM_001190707,NR_033815 NP_667340,NP_877576,AAK13665,EAW64775,EAW64776,EAW64777,EAW64778,EAW64779,EAW64780,BAD51817,BAB84944,BAC03895,BAC04237,BAC86572,BAD18448,BAD18450,AAH42906,AAH61883,AAH75825,AAI09234,CAH10367,Q60I27,Q8NAL7,Q8TEK5,AAI56526,AAI72558,NP_001177636 Hs.517937 DKFZp686P238|MGC129698|RN49018 ALS2 C-terminal-like protein protein-coding 1353551 ALS2CR10 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 10 11586298 65072 AB053312,AC007283 Hs.664613 miscrna 1345082 ALS2CR11 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 16189514,15815621,15489334,14702039,12477932,11586298,11827452 151254 BX648732,NM_152525,AC007282,CH471063,AB053313,AK058080,AK097651,AL833429,BC030659,BG701187,AI754862,BE502681,BG773299,DB525255,NM_001168216,NM_001168217,NM_001168221 NP_689738,AAY14693,EAW70277,EAW70278,EAW70279,EAW70280,BAB69021,BAB71654,BAC05132,AAH30659,Q53TS8,Q8N7U5,Q96Q36,NP_001161688,NP_001161689,NP_001161693 Hs.335788 DKFZp686H0636|FLJ25351|FLJ40332 OTTHUMP00000206610|OTTHUMP00000206611|OTTHUMP00000206612|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein protein-coding 1343894 ALS2CR12 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 1580863 17474147,19692168,19773279,20379614,11586298,18649358,16189514,12477932,8889548,17207965,21048031 130540 NM_139163,NM_001127391,AC007256,CH471063,AB053314,AK124115,AK292283,BC031603,BX095441,CA314586 NP_631902,NP_001120863,AAY24226,EAW70267,EAW70268,EAW70269,EAW70270,BAB69022,BAF84972,AAH31603,Q8N1B6,Q96Q35,ADQ31789 Hs.107944 OTTHUMP00000163724|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein protein-coding 1353075 ALS2CR14 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14 11586298 65068 Q96Q33 NM_178231,AB053316 1314457 ALS2CR16 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16 14702039,12477932,11586298 130029 XM_001134431,XM_001134454,AC010900,AB053318,AK130065,BC132950,BC137214,CR597362 XP_001134431,XP_001134454,BAB69026,BAC85289,AAI32951,AAI37215,Q6ZP36 Hs.604686,Hs.648846 MGC164581 protein-coding 1315474 ALS2CR4 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4 1580863 15815621,15489334,14702039,12477932,11586298,18482256 65062 NM_152388,AC007279,AC007282,CH471063,AB053301,AF212043,AK022836,AK090601,AK125841,AK303954,AK304395,BC013730,BC029611,NM_001044385,BQ219059,BX538000,CR603031,CR608801 NP_001037850,NP_689601,AAY15056,AAY14694,EAW70281,EAW70282,EAW70283,EAW70284,BAB69011,AAL56640,BAC03487,BAG64880,BAG65230,AAH13730,AAH29611,CAD97955,Q8WYG0,Q96Q45 Hs.12319 DKFZp313L091|FLJ33282 ALS2CR4 protein, N-terminus truncated|OTTHUMP00000205924|OTTHUMP00000205925|OTTHUMP00000205927|OTTHUMP00000205928|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein protein-coding 1315654 ALS2CR8 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 1580863 18555516,16344560,16189514,15815621,15489334,14702039,12477932,12154087,11832226,11586298,9373149,8125298 79800 NM_024744,NM_001104586,AC010900,CH471063,AB053309,AB053310,AF454946,AK022737,AK025232,AK225218,AK295499,AK295703,AK299366,AK304014,AK308171,AK310640,AK316432,AL834188,AV751848,AY032876,BC021999,BC033777,CK825814,DB094349 NP_079020,NP_001098056,AAY24288,EAW70320,EAW70321,EAW70322,EAW70323,EAW70324,BAB69018,BAB69019,AAL62330,BAB15088,BAG58419,BAG58550,BAG61358,BAG64929,BAH14803,CAD38882,AAK66819,AAH33777,Q8N187,ABM82274,ABM85454 Hs.444982 CARF|DKFZp667N246|FLJ12675|FLJ21579|NYD-SP24 OTTHUMP00000205971|OTTHUMP00000205972|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein|calcium-response factor|testis development protein NYD-SP24 protein-coding 1343013 ALS3 amyotrophic lateral sclerosis 3 (autosomal dominant) 11706389 253 1349713 ALS5 amyotrophic lateral sclerosis 5 255 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] 734689,1580863 16189514,8756334,8673125,18029348,15489334,12929931,12477932,9847249,9753625,7690966,7592751,20932315,20451171 734689 8092 NM_006982,AC127069,AC131532,AC133794,AJ558236,CH471054,BC010923,U31986,NG_023202 NP_008913,CAD90155,EAW97398,AAH10923,AAB08960,Q15699 Hs.41683 CART1|FND3 ALX homeobox protein 1|CART-1|cartilage paired-class homeoprotein 1 protein-coding 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] 1580863 16825292,15226305,12477932,11807986,7991607,19409524,20634891 257 NM_006492,NG_012039,AF008202,AL160006,CH471122,AF008203,BC112007,BC113428 NP_006483,AAD01417,CAI22714,EAW56430,AAD01418,AAI12008,AAI13429,O95076 Hs.669953 MGC138212|MGC141988 aristaless-like homeobox 3|homeobox protein aristaless-like 3|proline-rich transcription factor ALX3 protein-coding 1320963 ALX4 ALX homeobox 4 1580863 11017806,11106354,11137991,19336475,17293876,16415175,16319823,15852040,14702039,11696550,11347906,9847249,8644736,20211142,20879858,16582099,19692347,19783719,8558565,20634891,20140221 60529 NM_021926,AC103854,AF308825,AJ279074,CH471064,AB058691,AF294629,AJ404888,AK092346,NG_015809 NP_068745,AAK38835,CAC15120,EAW68066,BAB47417,AAG23961,CAC15060,Q9H161,AAI66622 Hs.436055 FND2|FPP|KIAA1788|PFM|PFM1|PFM2 aristaless-like homeobox 4|homeobox protein aristaless-like 4|homeodomain transcription factor ALX4 protein-coding 1350379 AMAC1 acyl-malonyl condensing enzyme 1 1580863 17101974,14702039,12477932 146861 NM_152462,AC022916,CH471147,AK097473,BC136422,BC140700 NP_689675,EAW80161,BAC05067,AAI36423,AAI40701,Q8N808 Hs.514814 FLJ40154|TMEM21A acyl-malonyl-condensing enzyme 1|protein AMAC1|transmembrane protein 21A protein-coding 1344227 AMAC1L1 acyl-malonyl condensing enzyme 1-like 1 17101974 646000 XM_928960,XM_001720870,AP001017,AP001120 XP_934053,XP_001720922,P0C7Q5 acyl-malonyl condensing enzyme 1-like 1|acyl-malonyl-condensing enzyme 1-like protein 1|protein AMAC1L1 protein-coding 1605928 AMAC1L2 acyl-malonyl condensing enzyme 1-like 2 This gene seems to be intronless. It has high sequence similarity to the gene encoding acyl-malonyl condensing enzyme on chromosome 17. [provided by RefSeq] 19060906,17101974,11896452,20571754,12477932,20160193,20972250 83650 NM_054028,AF131216,CH471157,AJ291677,BC131696 NP_473369,EAW65610,CAC82744,AAI31697,Q96KT7 Hs.458397 AMAC acyl-malonyl-condensing enzyme 1-like protein 2|protein AMAC1L2 protein-coding 1345092 AMAC1L3 acyl-malonyl condensing enzyme 1-like 3 18950845,17101974 643664 NM_001102614,AC113189 NP_001096084,P0C7Q6 Hs.632234 TMEM21B acyl-malonyl-condensing enzyme 1-like protein 3|protein AMAC1L3|transmembrane protein 21B protein-coding 735888 AMACR alpha-methylacyl-CoA racemase Alpha-methylacyl-CoA racemase is responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers, which are the only stereoisomers that can be degraded via peroxisomal beta-oxidation.[supplied by OMIM] 2315628,2315635,2315632,2315633,2315629,2315630,1580863 16756494,20636793,19638170,10770938,19605815,19148275,19068396,18835622,18788852,18785113,18712414,18676680,18665038,18577240,18537123,18500268,18279392,18080842,18032455,17684125,17683075,17680641,17525630,17222253,17067752,16681682,16506014,16491480,16424894,16381901,15941951,15941950,15880524,15489336,15330799,15323145,14960364,20102405,20503447,14702039,14612535,12810662,12673556,12477932,12438241,12374981,12213712,12131161,11956072,11926890,11076863,11060344,10655068,9373149,9307041,8125298,7649182,16344560,19064571,19170196,19384190,19459159,19625176,19692168,20877624,20945498,20664974 2315628,2315635,2315632,2315633,2315629,2315630 23600 NM_203382,NM_014324,AC139783,CH471118,AF047020,AF158378,AJ130733,AK000912,AK022765,AK222831,AK225749,AK292988,AL545355,AL571115,AY330488,AY330489,AY935981,BC009471,BG708726,BI550368,BQ941482,BT007193,CR615811,CR616479,CR618063,CR625004,EF560721,FJ498906,FJ498907,FJ498908,AA969512,DA156454,NG_016211,NM_001167595,NM_001167596,NM_001167597,NM_001167598 NP_976316,NP_055139,EAX10815,EAX10816,EAX10817,EAX10818,AAD10205,AAF22610,CAB44062,BAG50838,BAG51110,BAD96551,BAF85677,AAQ67234,AAQ94259,AAY16192,AAH09471,AAP35857,ABQ59031,ACL67853,ACL67854,ACL67855,Q3KT79,Q53GV0,Q6VRU3,Q6VRU4,Q9UHK6,CAL37503,NP_001161067,NP_001161068,NP_001161069,NP_001161070 Hs.508343 CBAS4|RACE|RM 2-methylacyl-CoA racemase|OTTHUMP00000219978|OTTHUMP00000219979|alpha-methylacyl-CoA racemase protein-coding 736409 AMBN ameloblastin (enamel matrix protein) Ameloblastin is thought to represent an unique ameloblast-specific gene product that may be important in enamel matrix formation and mineralization. The gene is located on chromosome 4 near other genes associated with mineralized tissues: osteopontin, bone sialoprotein, and bone morphogenetic protein 3. Based on its cytogenetic location, this gene is a candidate gene for one form of the disorder, dentinogenesis imperfecta, and/or the disorder, autosomal dominant amylogenesis imperfecta. [provided by RefSeq] 1580863 18781068,18353005,12477932,11330937,11054529,10946765,10634581,9126491,9032019,17331365,19661317,20043904,20831578 258 NM_016519,AC134919,AY009124,CH471057,AF209780,AF219994,AF263464,AJ537437,AK314918,BC106931,BC106932 NP_057603,AAG27036,EAX05623,EAX05624,AAG35772,AAF37355,AAF73048,CAD60938,BAG37429,AAI06932,AAI06933,Q3B861,Q546D7,Q9NP70 Hs.272396 ameloblastin protein-coding 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] 1580863 20954860,11877257,12817471,14516400,11883904,9570066,10097787,14718574,18649735,18226914,18046670,17998887,17766242,17633530,17584166,17320766,17146627,17115277,17087727,16916777,16407257,16140784,15653696,15498571,15489334,15452109,15037615,14597629,12477932,11807786,11058759,11036097,10878892,10727951,10631976,10447938,9671439,9566199,9472382,9183005,7682553,7535251,7533162,7528952,7513643,7506257,6198962,6196366,6171497,6164372,3890890,3663330,2482577,2472935,2465147,2430261,2428011,2419908,2413856,2408638,1898736,1714898,1708673,1700638,1696200,1694784,1385302,72071,7519849,1697852,16712791,17207965,21067798,20602574,18448433,19636634,19914646,19879940,19913121,20628086 259 NM_001633,AL137850,CH471090,CS208015,M88249,X53686,X54816,X54817,X54818,AK290837,AK310776,AK310791,AY544123,BC041593,CB141734,CR607981,CR615737,CR616173,M11562,X04225,X04494,AK303795,HB867200 NP_001624,CAI15899,EAW87404,CAJ44933,AAA59196,CAA37726,CAA38585,CAA38586,CAA38587,BAF83526,AAT11154,AAH41593,AAA59194,CAA27803,CAA28182,P02760,P78492,ADQ32920,BAH14052,CBF57586 Hs.436911 A1M|EDC1|HCP|HI30|IATIL|ITI|ITIL|ITILC|UTI alpha 1 microglobulin/bikunin|alpha-1-microglobulin/bikunin|bikunin|complex-forming glycoprotein heterogeneous in charge|growth-inhibiting protein 19|inter-alpha-trypsin inhibitor light chain|protein AMBP|protein HC|trypstatin|uristatin|uronic-acid-rich protein protein-coding 1604349 AMBRA1 autophagy/beclin-1 regulator 1 17589504,17622796,17603510,14702039,12477932,12107410,11214970,16949367,19615732,20694011,20562859,20921139 55626 AC024293,NM_017749,AC115097,AC116021,AC127035,CH471064,AB051523,AK000301,AK023197,AK057896,AK302808,AK304530,AL137611,AL834190,BC045609,CA389399,CR590663,DQ870924 NP_060219,EAW67996,EAW67997,EAW67998,EAW67999,EAW68000,EAW68001,EAW68002,BAB21827,BAA91067,BAB14457,BAG64009,BAG65331,AAH45609,ABI74670,Q9C0C7 Hs.654644 DCAF3|FLJ20294|KIAA1736|MGC33725|WDR94 DDB1 and CUL4 associated factor 3|WD repeat domain 94|activating molecule in BECN1-regulated autophagy protein 1|activating molecule in beclin-1-regulated autophagy protein-coding 1348845 AMCD2B arthrogryposis multiplex congenita, distal, type 2B 9012416 8044 1343154 AMCN arthrogryposis multiplex congenita, neurogenic 9345093 261 1351440 AMD1 adenosylmethionine decarboxylase 1 This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Two alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq] 1580863,1578320 1917972,2460457,19053272,18548481,17259861,17069747,16344560,15521072,15489334,14718534,14574404,12600205,12477932,11583148,11583147,10574985,10378277,10029540,8353934,7789170,7634128,2687270,1527020,1400498,16941339,19161160,19527050,19661236,20615890,20215859 1578320 262 NM_001033059,AL357515,AL365206,CH471051,M88003,M88004,M88005,M88006,S47803,AJ420527,AJ420567,AK026205,AK125644,AK130474,AK300330,AK302761,AK304351,AK316471,AL832698,AU134914,BC000171,NM_001634,BC041345,BX640599,CR599478,CR604279,CR610717,CR611524,M21154 NP_001625,NP_001028231,CAH73388,CAH73389,CAH73390,CAI23233,CAI23234,CAI23235,EAW48307,EAW48308,EAW48309,AAD14903,BAG62078,BAG63972,BAG65194,BAH14842,CAI46113,AAH00171,CAE45705,AAA51716,P17707,Q5VXN4,Q5VXN5,Q6N0B2,ABM85036 Hs.159118 ADOMETDC|AMD|DKFZp313L1234|FLJ26964|SAMDC OTTHUMP00000017014|S-adenosylmethionine decarboxylase 1|S-adenosylmethionine decarboxylase proenzyme protein-coding 1603900 AMDHD1 amidohydrolase domain containing 1 15221005,15489334,14702039,12477932,20379614 144193 NM_152435,AC126174,CH471054,AB075878,AK054617,AK122802,AK290828,AL833144,BC029146 NP_689648,EAW97552,EAW97553,BAD38660,BAB70775,BAG53737,BAF83517,AAH29146,Q96NU7 Hs.424907 HMFT1272|MGC35366 amidohydrolase domain-containing protein 1|probable imidazolonepropionase protein-coding 1603049 AMDHD2 amidohydrolase domain containing 2 15146197,12477932,10810093 51005 NM_015944,NM_001145815,AC093525,CH471112,AB209351,AF132948,AK296877,AK300747,BC018734,CN362870,HB969100,HD026510 NP_057028,NP_001139287,EAW85498,EAW85499,EAW85500,BAD92588,AAD27723,BAG59439,BAG62416,AAH18734,Q59FV8,Q9Y303,CBG19170,CBV32525 Hs.726052 CGI-14 amidohydrolase domain-containing protein 2|glcNAc 6-P deacetylase|putative N-acetylglucosamine-6-phosphate deacetylase protein-coding 1347122 AMDM acromesomelic dysplasia, Maroteaux type 9634515 264 1350121 AMDP1 adenosylmethionine decarboxylase pseudogene 1 7789170 263 NG_001073,AJ271735,U02035 AMD|AMD2|AMDPX|AMDPY pseudo 735379 AMELX amelogenin (amelogenesis imperfecta 1, 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] 1300281,1300370,1599092 1734713,19083859,19025992,18781068,18714142,18701806,18434575,18067069,18042988,17688372,17645864,15772651,15489334,15111628,12613657,12477932,11922869,11922868,11877393,11852235,11839357,11406633,9041053,16674683,18029348,8254123,8118759,7782077,2737677,2059881,2004775,2509010,1483698,1916828,19966041,20012165,19913121,20628086,20929860 1300281,1300370,1599092 265 NM_182680,NM_001142,NM_182681,NG_012040,AC002366,AY040206,CH471074,M55418,X14440,AF436849,BC069118,BC074951,M86932,S67147 NP_872621,NP_001133,NP_872622,AAC21581,AAK77213,EAW98792,EAW98793,EAW98794,AAA62826,CAA32613,AAL30432,AAH69118,AAH74951,AAA51717,AAB29184,Q99217 Hs.654436 AIH1|ALGN|AMG|AMGL|AMGX amelogenesis imperfecta 1|amelogenin (X chromosome, amelogenesis imperfecta 1)|amelogenin (amelogenesis imperfecta 1, X-linked)|amelogenin, X isoform protein-coding 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] 1580863 18029348,18067069,17588179,17189292,15489334,12815422,12477932,2737677,2037302,2004775,1734713 266 NM_001143,NG_008011,AC013412,CH471163,M55419,X14439,AY487421,BC069138,BC074976,BC074977,M86933 NP_001134,EAW59129,AAA62827,CAA32612,AAR39431,AAH69138,AAH74976,AAH74977,AAA51718,Q99218 Hs.1238 AMGL|AMGY OTTHUMP00000039060|amelogenin (Y chromosome)|amelogenin, Y isoform protein-coding 1323068 AMFR autocrine motility factor receptor Autocrine motility factor is a tumor motility-stimulating protein secreted by tumor cells. The protein encoded by this gene is a glycosylated transmembrane protein and a receptor for autocrine motility factor. The receptor, which shows some sequence similarity to tumor protein p53, is localized to the leading and trailing edges of carcinoma cells. [provided by RefSeq] 1580863 11724934,16168377,17681147,1649192,10456327,17043353,17157811,17310145,19560420,19103148,18037895,17872946,17265125,17071500,16979136,16563432,16407162,16186510,16184720,15489334,15331598,15303277,14702039,12962414,12670940,12477932,12067203,11902125,8889549,7626106,18835813,19549727,19690564,17353931,18216283,16275660,19661182,19828134,19835843,19864457,20089858,20504226 267 NM_001144,AC009102,AC092140,CQ834404,AF124145,AK023874,BC017043,BC051032,BC056869,BC069197,CR593778,CR612799,CR625924,L35233,M63175,W60999 NP_001135,CAH05417,AAD56722,AAH17043,AAH56869,AAH69197,AAA79362,AAA36671,P26442,Q1RN03,Q6PGR1,Q9UKV5 Hs.295137 GP78|RNF45 AMF receptor, isoform 1|AMF receptor, isoform 2|RING finger protein 45|autocrine motility factor receptor|autocrine motility factor receptor, isoform 1|autocrine motility factor receptor, isoform 2 protein-coding 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] 1601180,1601181,1601183,1580863,2315637,2315638,2315652,2315639,1601182 16213847,20734064,20864412,20155783,20309569,20207725,3754790,14750901,12834017,19539910,19424576,19359032,19342396,19217095,19064572,19056816,18930199,18854109,18784351,18697861,18593767,18555223,18381582,18328480,18321493,18310677,18291376,18249391,18249372,18230658,18191888,17926161,17636279,17628551,17624337,17603052,17559842,17543956,17488788,17485437,17462637,17425826,17337470,17335955,17088539,16923748,16816803,16740653,16566934,16368745,16159935,16030171,15897891,15550498,15536161,15217995,15070957,15057824,14742691,14715867,14671316,14671196,12571168,12477932,12477536,12462075,12456604,11773638,11760020,11420127,9713320,8895659,8889695,8755541,8596488,8162013,3028714,2467567,2325025,2023927,1750488,1483695,18930217,19345350,19361798,19409547,19539911,19730683,19755162,19800062,19940443,20150576,20236105,20060112,20064870,20801125,20719830,20797901,20797903,20843948 1601180,1601181,1601183,2315637,2315638,2315652,2315639,1601182 268 NM_000479,NG_012190,AC005263,CH471139,K03474,AI791949,BC033218,BC049194 NP_000470,AAC25614,EAW69397,AAA98805,AAH49194,P03971,Q6GTN3 Hs.112432 MIF|MIS Mullerian inhibiting factor|Mullerian inhibiting substance|anti-Muellerian hormone|muellerian-inhibiting factor|muellerian-inhibiting substance protein-coding 733276 AMHR2 anti-Mullerian hormone receptor, type II 2315638,2315651,1580863,704409,70669 20362961,14750901,7493017,12462075,12834017,19539910,19424576,19064572,18697861,18310289,18230658,17988723,17636279,17337470,15489334,12477932,12477536,11588147,11549681,11420127,10874041,10589763,8940028,8889695,8872466,8572466,7488027,16344560,19457927,20236105,20734064,20864412 2315638,2315651,704409,70669 269 NM_020547,AC068889,CH471054,U29700,X89013,X91156,X91157,X91158,X91159,X91160,X91161,X91162,X91163,X91164,X91165,X91166,AF172932,AK313593,AY714878,BC126316,BC136356,CR627318,AJ572328,DB020573,NG_015981,NM_001164690,NM_001164691 NP_065434,EAW96701,AAC50328,CAA61418,CAA62593,AAD48497,AAU21221,AAI26317,AAI36357,Q16671,Q647K2,NP_001158162,NP_001158163,ADR83081 Hs.659889 AMHR|MISR2|MISRII AMH type II receptor|MIS type II receptor|MRII|Mullerian inhibiting substance type II receptor|anti-Muellerian hormone type II receptor|anti-Muellerian hormone type-2 receptor|anti-mullerian hormone type 2 receptor protein-coding 1344740 AMICA1 adhesion molecule, interacts with CXADR antigen 1 15800062,19064666,16344560,15340161,14702039,12975309,12869515,12477932,10737800,20379614 120425 NM_001098526,NM_153206,AP002800,CH471065,EF444945,AJ515553,AK057590,AK090409,AK094399,AK097285,AK298722,AK300851,AK301099,AW804077,AY093686,AY093687,AY138965,AY358362,BC100794,BC100795,BC100796,BC100797,CR596683,CR598736,CR611880,DA090367,DC296115 NP_001091996,NP_694938,EAW67354,EAW67355,ACA05929,ACA05930,CAD56620,BAC03390,BAC04347,BAG53445,BAG60876,BAG62502,BAG62698,AAM15730,AAM15731,AAN52117,AAQ88728,AAI00795,AAI00796,AAI00797,AAI00798,Q496M1,Q496M2,Q496M3,Q496M4,Q5DTC5,Q86YT9 Hs.16291 AMICA|CREA7-1|CREA7-4|FLJ37080|Gm638|JAML|MGC118814|MGC118815 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 1606525 AMIGO1 adhesion molecule with Ig-like domain 1 20383146,17207965,12629050,16710414,15489334,12477932,10574461 57463 AL355145,NM_020703,CH471122,AB032989,AK295678,AY237007,BC040879,DC317707 ADQ33120,CAI22942,NP_065754,EAW56391,BAA86477,BAG58535,AAO48948,AAH40879,Q86WK6,ACE87319,ACE86637 Hs.726479 AMIGO|AMIGO-1 alivin-2|amphoterin-induced gene and ORF|amphoterin-induced protein 1 protein-coding 736884 AMIGO2 adhesion molecule with Ig-like domain 2 12629050,12843293,15489334,15146197,15107827,14702039,12477932 347902 CN397638,BC095477,NM_181847,NM_001143668,AC004010,CH471111,AB079074,AB080610,AK091761,AK093111,AL833007,AY237005,AY454159,BC014103,BC047595 AAH95477,Q86SJ2,NP_862830,NP_001137140,EAW57923,EAW57924,BAC81188,BAC81189,BAG52413,BAG52657,CAH56293,AAO48946,AAR83271,AAH14103,AAH47595 Hs.121520 ALI1|DEGA AMIGO-2|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|transmembrane protein amigo2 protein-coding 735629 AMIGO3 adhesion molecule with Ig-like domain 3 12629050,15489334,12975309,12477932,11347906,20307617 386724 NM_198722,AC099668,CH471055,AY237003,AY358134,BC101363,BC101364,BC101365,BC110418,BQ673901 NP_942015,EAW65011,AAO48944,AAQ88501,AAI01364,AAI01365,AAI01366,AAI10419,Q494V5,Q86WK7 Hs.567903 AMIGO-3|MGC120552 alivin-3|amphoterin induced gene and orf 3|amphoterin-induced gene and ORF 3|amphoterin-induced protein 3 protein-coding 1347896 AMLCR2 acute myeloid leukemia chromosome region 2 9382098 9163 1347096 AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 15772651,15558565,15489334,14702039,12477932,10049589,9480748,17207965,16344560 9949 NM_001025580,NM_015365,AJ012221,AL031319,AL079334,AL359079,CH471120,AJ007014,AK001703,AK023637,AK055321,AK091430,AK314596,BC024762,BC037983,BC051895,BC060813,BC065214,BX648797,AC000113,AL137844,DA203031,NG_016469,NM_001171689 NP_001020751,NP_056180,CAB58122,CAB58123,CAI42703,CAI42704,CAI42537,CAI42538,CAI41539,CAI41540,EAX02663,CAB45546,BAG50964,BAG52359,BAG37168,AAH60813,Q9Y4X0,ADQ32993,NP_001165160 Hs.656243 AMMERC1 AMME syndrome candidate gene 1 protein|Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region,|OTTHUMP00000023852 protein-coding 1605931 AMMECR1L AMME chromosomal region gene 1-like 15489334,14702039,12477932,20098747,17207965 83607 NM_031445,AC012306,CH471103,AK024993,AK026685,AK095871,AK304145,AL137415,BC004208,BC016181,BC067124,BC078174,BC084552,NM_001199140 NP_113633,EAW95346,EAW95347,EAW95348,EAW95349,BAG65038,AAH16181,AAH78174,Q6DCA0,ADQ32032,NP_001186069 Hs.546449 FLJ38552|MGC4268 AMMECR1-like protein|OTTHUMP00000162270 protein-coding 1318522 AMN amnionless homolog (mouse) 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] 1599101,1580863 18029348,17979745,16730941,16403802,14702039,14576052,12975309,12590260,12477932,11279523,11279507,9851841,8889548,8660894 1599101 81693 NM_030943,NG_008276,AL117209,CH471061,AF328788,AK055802,AY358468,BC029948,CB306421 NP_112205,EAW81798,EAW81799,AAK28532,BAG51576,AAQ89949,Q9BXJ7 Hs.534494 PRO1028 protein amnionless|visceral endoderm-specific type 1 transmembrane protein protein-coding 1606942 AMN1 antagonist of mitotic exit network 1 homolog (S. cerevisiae) 14702039,12477932 196394 NM_001113402,NR_004854,AC023157,CH471116,AK094708,AK123033,AK302112,AK311214,AK311249,AL833434,BC037897,BC045831,BC067906,BI464068,CR598985,CR608460,CR618732,DC394802 NP_001106873,EAW88543,EAW88544,BAH13629,AAH37897,AAH45831,AAH67906,Q8IY45 Hs.585084,Hs.591146 protein AMN1 homolog protein-coding 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] 123345,17148452,19565639,19615732,20080965,16640563,15804419,15489334,14702039,12902404,12477932,12406577,12168954,11257132,10470851,12345,20562859,16678097,11257124,16043488,19590046,18824598,16754857,19913121,20628086 154796 NM_133265,NM_001113490,NG_012628,AC004827,CH471120,AB028994,AF286598,AK024344,AK301573,AY987378,BC039408,BC050581,BC094712,BC130294 NP_573572,NP_001106962,EAX02626,EAX02627,BAA83023,AAG01851,BAG63066,AAY24451,AAH94712,AAI30295,Q4VCS5 Hs.528051 KIAA1071 OTTHUMP00000037949|OTTHUMP00000037950|angiomotin|angiomotin p130 isoform|angiomotin p80 isoform protein-coding 1313196 AMOTL1 angiomotin like 1 The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. [provided by RefSeq] 1580863 11076863,16019084,18029348,19590046,18951430,16381901,15489336,15489334,14702039,12477932,12406577,11733531,11230166,17353931,19565639,19615732,19932912 154810 NM_130847,AP001152,AP002376,CH471065,AF453742,AK024350,AK074084,AK093699,AL137281,AL833833,BC014126,BC018449,BC037539,BC040683,BX648729,CR625258 NP_570899,EAW66943,EAW66944,EAW66945,AAL49764,BAB84910,BAC04218,CAD38693,AAH14126,AAH37539,CAH56180,Q8IY63,Q8N209,Q8TEN8,CAL38539 Hs.503594 JEAP angiomotin-like protein 1|junction-enriched and associated protein protein-coding 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 motins protein family. [provided by RefSeq] 16189514,15489334,14702039,12477932,12406577,10231032,9373149,8889549,8125298 51421 AK299270,NM_016201,AC010207,CH471052,AA056579,AB023206,AF175966,AK001343,AK074731,AK091040,AK223598,AK291616,BC011454,BC025981,BU178516,CR614830 BAH12987,NP_057285,EAW79150,EAW79151,EAW79152,BAA76833,AAD56361,BAG51994,BAG52268,BAD97318,BAF84305,AAH11454,AAH25981,Q8TBR8,Q9Y2J4 Hs.426312,Hs.713601 LCCP Leman coiled-coil protein|OTTHUMP00000216466|OTTHUMP00000216530|angiomotin-like protein 2 protein-coding 735799 AMPD1 adenosine monophosphate deaminase 1 (isoform M) 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. [provided by RefSeq] 1578329,1580863 644316,19427446,19422651,19353846,19277943,19237423,18855224,18801770,18493842,18409530,18338202,18224333,17687759,17630210,17565237,17530705,17463303,17376785,16996850,16947783,16875916,16767606,16710414,16707139,16671104,16570231,16360962,16021918,16021915,15882662,15793265,15677729,15368811,15309698,15239633,15173240,15135700,14702039,12783984,12477932,12213808,12117480,11102975,11028479,10996775,10086964,9880040,9730972,9443500,8355716,8335021,7201581,6406772,6167680,2502331,2345176,1631143,1400401,1370861,16344560,19845893,19902562,19948975,20044476,8889549,19913121,20544536,20628086,20952631 1578329 270 NG_008012,NM_000036,AB125879,AB158499,AB158500,AB158502,AB160874,AB160875,AB160876,AB160877,AB160878,AL096773,CH471122,M37931,AK097077,AK291349,AK314252,BC056678,M60092,AA086476,DA826076,NM_001172626 Q6F4B5,Q6F4B6,Q6F4B7,Q6F4B8,Q6F4B9,Q6I6Y1,Q6I6Y2,Q6I6Y3,Q6PH79,AAI40300,AAI41601,NP_000027,BAD69565,BAD23974,BAD23975,BAD23977,BAD27426,BAD27427,BAD27428,BAD27429,BAD27430,CAI18828,CAI18830,EAW56606,EAW56607,AAG24258,BAF84038,BAG36918,AAH56678,AAA57281,P23109,Q5TF02,Q5W9V2,NP_001166097 Hs.89570 MAD|MADA AMP deaminase 1|AMPD|adenosine monophosphate deaminase 1|adenosine monophosphate deaminase 1 (isoform M)|adenosine monophosphate deaminase-1 (muscle)|myoadenylate deaminase|skeletal muscle AMPD protein-coding 1346106 AMPD2 adenosine monophosphate deaminase 2 (isoform L) Adenosine monophosphate deaminase-2 (EC 3.5.4.6) catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle.[supplied by OMIM] 1580863 8764830,18493842,17081983,16964243,15489334,12745092,12477932,8526848,1429593,1400401,19948975,20125088 271 NM_139156,NM_004037,NM_203404,AL355310,CH471122,M91029,U16269,U16272,AK025706,AK296394,AK302939,AK308907,AK314494,BC007711,BC030217,BC075844,CR591398,S47833,U16267,U16268,U16270 NP_631895,NP_004028,NP_981949,CAI19305,CAI19306,CAI19307,EAW56396,EAW56397,EAW56398,EAW56399,EAW56400,EAW56401,AAA62126,AAA62127,AAB06511,AAC50309,AAD56302,AAD56303,BAG59062,BAG64097,BAG37094,AAH07711,AAH75844,AAA11725,AAC50306,AAC50307,AAC50308,Q01433,Q5T694 Hs.82927,Hs.727510 AMP deaminase 2|AMPD|OTTHUMP00000013371|adenosine monophosphate deaminase 2 (isoform L) protein-coding 732010 AMPD3 adenosine monophosphate deaminase (isoform E) 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] 1300048,734568,1580863 9291127,18493842,18409530,16670071,15807549,12604357,12477932,12213808,11139257,8863347,8611627,8140814,8004104,7881427,3804327,1420359,1400401,20379614 734568 272 NM_001025389,NM_001025390,NG_012041,AC021914,CH471064,D31646,U29926,AK289998,AK294444,AK295046,AK299113,AK301507,AK302970,AK308181,AK311279,AK311436,AK311711,AK313039,BC126118,CR626009,D12775,M84720,M84721,M84722,NM_000480,DC401375,NM_001172430,NM_001172431 NP_000471,NP_001020560,NP_001020561,EAW68567,EAW68568,EAW68569,BAA06505,AAB60408,AAB60409,AAB60410,BAF82687,BAH11768,BAH11958,BAH12953,BAH13499,BAH13863,AAI26119,BAA02240,AAA58365,AAA58366,AAA58367,Q01432,A0AUX0,NP_001165901,NP_001165902,ADR83397 Hs.501890 AMP aminohydrolase|AMP deaminase 3|adenosine monophosphate deaminase (isoform E)|adenosine monophosphate deaminase 3|erythrocyte AMP deaminase|erythrocyte type AMP deaminase|erythrocyte-specific AMP deaminase|myoadenylate deaminase protein-coding 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. [provided by RefSeq] 1300282 20214647,19669081,9182667,18814309,18206907,16733250,16671079,15489334,15345747,14704270,14529717,12853948,12690205,12565847,12477932,12456676,12057195,12023042,11877424,11113134,10931822,10899172,10764771,10748223,10542231,9694653,9603201,9513187,9348539,9315708,9280305,9195986,9148966,8552632,8245793,8076697,7757077,1628617,9341169,12558988,15834155,16696976,20379614,16344560,7757816 1300282 273 NM_139316,NM_001635,AC007245,AC011309,AC012490,AC096581,AF099116,AF099117,AF099119,AF099120,CH236951,CH471073,AF034996,AF498092,AF498093,AF498094,AF498095,AF498096,AF498097,AK291447,BC034376,U07616,X81438,DA125756,F03887 NP_647477,NP_001626,AAS07541,AAS07391,AAS07563,AAD16283,AAD16284,AAD16285,AAD16282,EAL23989,EAL23990,EAW94110,EAW94111,AAC02977,AAM44806,AAM44807,AAM44808,AAM44809,AAM44810,AAM44811,BAF84136,AAH34376,AAA21865,CAA57197,P49418,Q8NFL3,Q8NFL4,Q8NFL5,Q8NFL6,Q8NFL7,Q8NFL8,Q9UQI2,Q9UQI3,Q9UQI4,Q9UQI5 Hs.592182 AMPH1 OTTHUMP00000207238|Stiff-Man syndrome with breast cancer 128kDa autoantigen|amphiphysin|amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)|amphiphysin I protein-coding 1343884 AMT aminomethyltransferase The enzyme system for cleavage of glycine (glycine cleavage system; EC 2.1.2.10), which is confined to the mitochondria, is composed of 4 protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase; MIM 238300), H protein (a lipoic acid-containing protein; MIM 238330), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase; MIM 238331). Glycine encephalopathy (GCE; MIM 605899) may be due to a defect in any one of these enzymes.[supplied by OMIM] 1599106,1599107,1580863 8005589,9600239,8188235,19367581,19161160,18676680,16450403,16051266,14702039,12477932,11286506,10873393,9621520,7916605,6790577,6111451,1993704,19170196,19416867,19625176,20307617,19913121,20628086,20634891,20877624 1599106,1599107 275 NM_000481,AC104452,CH471055,D14686,AK091738,AK096062,AK290600,AK293481,AK293594,AK294592,AK296177,AK301072,BC007546,BC044792,BC094771,D13811,DC387800,GD148179,NG_015986,NM_001164710,NM_001164711,NM_001164712,NR_028435 NP_000472,EAW64984,EAW64986,BAA03512,BAG52409,BAG53206,BAF83289,BAG56972,BAG57060,BAG57780,BAG58912,BAG62678,AAH07546,AAH44792,BAA02967,P48728,Q49A62,Q96IG6,NP_001158182,NP_001158183,NP_001158184 Hs.102 GCE|GCST|GCVT|NKH OTTHUMP00000210792|OTTHUMP00000210824|aminomethyltransferase (glycine cleavage system protein t)|aminomethyltransferase, mitochondrial|glycine cleavage system T protein|glycine cleavage system protein T protein-coding 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] 16304441,16787391,15489334,15340161,12975309,12477932 401138 NM_212557,AC134919,CH471057,AY358528,BC121812,BC121817 NP_997722,EAX05622,AAQ88892,AAI21813,AAI21818,Q6UX39 Hs.453069 MGC148132|MGC148133|UNQ689 OTTHUMP00000219137|RSTI689|amelotin protein-coding 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] 1580863 16740002,16203048,16152770,15708646,15489334,15299664,15286789,15194503,15182367,14637141,12782315,12527308,12477932,12414807,12104089,11858714,7507116,6610603,6608795,6196780,6176528,2788608,2458567,2452973,2450054,2442579,2424823,2423416,18951906,17984929,17828263,17593303,17353931,2081604,1710976,9109822 276 NM_001008221,NM_004038,NG_004750,AC105272,M18671,M18674,M18715,M18786,M19233,AK292341,BC063129,BC069347,BC069463,BC070302,BC092444,BC132985,BC132987,BC132995,BC132997,BC144452,BX487266,CB956272 NP_001008222,NP_004029,AAA58368,AAA16183,AAA52279,AAA57345,BAF85030,AAH63129,AAH69347,AAH69463,AAH70302,AAH92444,AAI32986,AAI32988,AAI32996,AAI32998,AAI44453,P04745,Q6NSB3 Hs.655232 AMY1|AMY1B|AMY1C 1,4-alpha-D-glucan glucanohydrolase 1|alpha-amylase 1|amylase, alpha 1a; salivary|amylase, salivary, alpha-1A|glycogenase|salivary alpha-amylase|salivary amylase alpha 1A protein-coding 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] 17353931,16203048,16152770,15286789,12477932,6608795,6176528,2788608,2452973,2423416,2081604 277 NM_001008218,NG_004750,AL513482,AI627716,AK292341,BC063129,BC069347,BC069463,BC070302,BC092444,BC132985,BC132987,BC132995,BC132997,BC144452,CB957894,CB958435,CB958705 NP_001008219,CAI14928,CAI14929,CAI14930,BAF85030,AAH63129,AAH69347,AAH69463,AAH70302,AAH92444,AAI32986,AAI32988,AAI32996,AAI32998,P04745,AAI44453,Q5T084,Q5T085,AAI72291 Hs.599274,Hs.654437,Hs.655232,Hs.662103 AMY1|AMY1A|AMY1C|MGC177995 1,4-alpha-D-glucan glucanohydrolase 1|alpha-amylase 1|amylase, alpha 1b; salivary|amylase, salivary, alpha-1B|glycogenase|salivary alpha-amylase|salivary amylase alpha 1B protein-coding 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] 2423416,16203048,17353931,15286789,12477932,6608795,6176528,2788608,2452973,2081604,12414807 278 NM_001008219,NG_004750,AL513482,AI687773,AK292341,BC063129,BC069347,BC069463,BC070302,BC092444,BC132985,BC132987,BC132995,BC132997,CB955582,CB985420,CB985730,CB987307,CD690933,BC144452 NP_001008220,CAI14932,BAF85030,AAH63129,AAH69347,AAH69463,AAH70302,AAH92444,AAI32986,AAI32988,AAI32996,AAI32998,P04745,AAI46451,AAI56581,AAI44453 Hs.655232,Hs.662103 AMY1|AMY1A|AMY1B 1,4-alpha-D-glucan glucanohydrolase 1|alpha-amylase 1|amylase, alpha 1c; salivary|amylase, salivary, alpha-1C|glycogenase|salivary alpha-amylase|salivary amylase alpha 1C protein-coding 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] 1300048,1580863 6336237,2788608,16152770,15648851,15571103,15489334,15304511,15286789,14718574,12477932,11914097,11772019,11376382,10769135,10091666,9373149,8528071,8193143,8125298,6610603,6608795,3260028,2458567,2452973,2450054,2423416,2081604,1284286,890964,20428766,19001184 279 NM_000699,NG_004750,AC105272,M18669,M18785,X07056,AK223463,BC007060,BC146997,M28443,CS588494 NP_000690,AAA51723,AAA52280,CAA30099,BAD97183,AAH07060,AAI46998,AAA51724,P04746,Q53F26,ABM83827,ABM87150,CAN87444 Hs.654437 AMY2|AMY2B|PA 1,4-alpha-D-glucan glucanohydrolase|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 protein-coding 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] 1580863 2401405,16152770,15489334,15286789,15252450,14702039,12477932,11408008,11376382,11347906,8268204,6608795,3260028,2788608,2701942,2458567,2452973,2081604,890964 280 NM_020978,NG_004750,AC105272,CH471097,D90097,M18670,X07057,AK095605,AK127047,BC011179,BC020861,BX456665,DQ786288,M24895 NP_066188,EAW72902,EAW72903,EAW72904,BAA14130,AAA51725,CAA30100,BAG53093,BAG54429,AAH11179,AAH20861,AAA35525,P19961 Hs.484588 AMY2 1,4-alpha-D-glucan glucanohydrolase 2B|alpha-amylase 2B|alpha-amylase carcinoid|amylase, alpha 2b; pancreatic|carcinoid alpha-amylase|glycogenase protein-coding 1348760 AMYP1 amylase, alpha pseudogene 1 15286789,6608795,2788608,2452973,2081604 281 NG_004750,AL513482 AMY2P pseudo 1605859 AMZ1 archaelysin family metallopeptidase 1 15972818,14702039,12690205,12477932,11853319 155185 AK308900,AK311182,BC146753,NM_133463,AC006028,CH236953,CH471144,AB075830,AJ635357,AK092107,AK289723,AK295842 BAG58651,AAI46754,Q400G9,NP_597720,EAL23959,EAW87269,EAW87270,EAW87271,BAB85536,CAG25749,BAG52482,BAF82412 Hs.42221 KIAA1950 OTTHUMP00000201187|archaemetzincin-1|archeobacterial metalloproteinase-like protein 1|metalloproteinase-like protein protein-coding 1605392 AMZ2 archaelysin family metallopeptidase 2 15972818,15489334,15146197,14702039,12477932,11042152,17207965,20379614 51321 NM_016627,NM_001033574,NM_001033569,NM_001033570,NM_001033571,CR596257,CR598159,CR600562,CR606649,CR609550,NM_001033572,AC005332,CH471099,AJ635358,AK090981,AK126146,AW028610,BC035935,BC050709,BC056271,BE543044,BF978559,BM450564,BQ432895,CN278872 NP_057711,NP_001028746,NP_001028741,NP_001028742,Q86W34,NP_001028743,NP_001028744,EAW89047,EAW89048,EAW89049,EAW89050,EAW89051,CAG25750,BAG52256,BAC86462,AAH50709,AAH56271,ADQ33093 Hs.293560 archaemetzincin-2|archaemetzincins-2|archeobacterial metalloproteinase-like protein 2 protein-coding 3003936 AMZ2P2 archaelysin family metallopeptidase 2 pseudogene 2 100421018 AL589931,NG_022335 pseudo 1353292 ANAPC1 anaphase promoting complex subunit 1 ANAPC1 is 1 of at least 10 subunits of the anaphase-promoting complex (APC), which functions at the metaphase-to-anaphase transition of the cell cycle and is regulated by spindle checkpoint proteins. The APC is an E3 ubiquitin ligase that targets cell cycle regulatory proteins for degradation by the proteasome, thereby allowing progression through the cell cycle.[supplied by OMIM] 1580863 18622497,18535175,16565220,15489334,15302935,15252450,14702039,14657031,12477932,11179667,11179223,10922056,10500174,10318877,18997788,12956947,11076961,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,11438673,16364912,17643375,18485873,19826416,20064487 64682 NM_022662,AC093166,CH471245,AJ278357,AK023807,AK094527,AL832013,BC005089,BC104902,BC104904,BX282336,CR623206,DQ786300,AC104651 NP_073153,EAW52095,CAC19484,BAB14687,AAH05089,AAI04903,AAI04905,Q9H1A4 Hs.436527 APC1|MCPR|TSG24 OTTHUMP00000203537|anaphase-promoting complex 1 (meiotic checkpoint regulator)|anaphase-promoting complex subunit 1|cyclosome subunit 1|mitotic checkpoint regulator|testis-specific gene 24 protein protein-coding 1318993 ANAPC10 anaphase promoting complex subunit 10 10318877,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,15489334,15144564,12477932,11524682,11230166,10922056,10827173,10498862,12956947,11739784,16364912,18485873,18997788 10393 NM_014885,AC096757,AC097649,CH471056,DQ304649,AB012109,AF132794,AL080090,BC005217 NP_055700,AAY40941,EAX05050,EAX05051,EAX05052,EAX05053,ABB96248,BAA86953,AAD30527,CAB45705,AAH05217,Q4W5I2,Q9UM13,ACE87250,ACE86568 Hs.480876 APC10|DKFZp564L0562|DOC1 OTTHUMP00000220298|OTTHUMP00000220300|OTTHUMP00000220301|OTTHUMP00000220303|OTTHUMP00000220304|anaphase-promoting complex subunit 10|cyclosome subunit 10 protein-coding 2293158 ANAPC10P anaphase promoting complex subunit 10 pseudogene 729198 NG_007660,AC105754 ANAPC10P pseudo 1343647 ANAPC11 anaphase promoting complex subunit 11 1580863 11739784,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,15489334,15256223,14702039,12477932,11573242,11042152,10922056,12956947,20826619,16712791,19690564,10230407,16364912,18485873,18997788,19826416,16341674 51529 BC171900,BF435042,BF512771,BG707824,BM845909,BU554167,BU556841,CB106395,NM_016476,NM_001002244,NM_001002248,NM_001002247,NM_001002246,NM_001002245,NM_001002249,CH471099,AF151048,AF247565,AF247789,AK091360,AK307214,BC000607,BC066308,BC095454,BC104641,BC171892,BC171898,BC171899,AC145207,AK308091 AAI71900,Q9NYG5,NP_057560,NP_001002244,NP_001002248,NP_001002247,NP_001002246,NP_001002245,NP_001002249,EAW89700,EAW89701,EAW89702,EAW89703,AAF36134,AAF65816,AAL95694,AAH00607,AAH66308,AAH95454,AAI04642,AAI71892,AAI71898,AAI71899 Hs.534456 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 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] 737633 20846217,18391952,16364912,15489334,15060174,14702039,12477932,20546612,18485873 737633 25847 NR_024400,NM_015391,NR_024401,AC010207,CH471052,AF086169,AK001285,AK026550,AK290761,AL050051,BC005398,BG428689,BU852706,BX537696,CR601244 NP_056206,EAW79143,EAW79144,EAW79145,EAW79146,EAW79147,EAW79148,EAW79149,BAF83450,CAB43251,AAH05398,Q9BS18 Hs.106909 APC13|DKFZp566D193|SWM1 OTTHUMP00000216544|OTTHUMP00000216545|OTTHUMP00000216547|anaphase-promoting complex subunit 13|cyclosome subunit 13|cylosome subunit 13|homolog of yeast Swm1 protein-coding 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] 1580863 16287863,16319895,9469815,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,16964243,16364912,15489334,15231748,15164053,14657031,14508008,12477932,11739784,11691822,10922056,10718198,10500174,10318877,12956947,10230407,11076961,17443186,18485873,9637688,9811605 29882 NM_013366,AL929554,CH471090,AB037827,AF191337,AK294601,BC001579,BC009487,BC032503,BC033579,BM925063,BU526961,AK296204 NP_037498,CAH72881,EAW88361,BAA92644,AAF05751,BAG57788,AAH01579,AAH09487,AAH32503,Q9UJX6,ABM81778,ABM84933,BAG58931 Hs.533262 APC2|RP11-350O14.5 anaphase-promoting complex subunit 2|cyclosome subunit 2 protein-coding 1315264 ANAPC4 anaphase promoting complex subunit 4 A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. [provided by RefSeq] 1580863 6180011,9469815,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,14702039,14684825,14657031,12477932,10922056,10500174,10318877,8889548,12956947,11076961,16364912,17554300,18485873,19826416,20686030,20966902 29945 NM_013367,AC108218,AC110812,CH471069,AF191338,AK001881,AK023597,AK292336,AL353932,AY429517,AY429518,BC059383,BI546948,CA312572,AK023562 NP_037499,EAW92839,EAW92840,AAF05752,BAG51209,BAF85025,CAB89245,AAH59383,Q9UJX5 Hs.152173 APC4 OTTHUMP00000218479|anaphase-promoting complex subunit 4|cyclosome subunit 4 protein-coding 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] 11076961,16364912,18162579,18485873,19826416,9469815,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,16861917,16319895,15761153,15489334,15302935,15082755,14702039,14657031,12956947,12477932,11401522,10922056,10500174,10318877,7566098,16169070,20686030 51433 AK301197,NM_016237,NM_001137559,AC048337,AC069209,CH471054,AA349724,AF191339,AI879332,AK025614,AK054779,AK294139,AK315451,BC001081,BC001950,BC003095,BC006301,BC034243,BC045686,BX381618,BX537687,CR597802,CR603428,CR625495 BAH13429,NP_057321,NP_001131031,EAW98259,EAW98260,EAW98261,AAF05753,BAG51422,BAG57465,AAH01081,AAH01950,AAH06301,AAH34243,AAH45686,CAD97812,Q49A41,Q9UJX4,Q9Y2B7 Hs.7101 APC5 anaphase-promoting complex subunit 5|cyclosome subunit 5 protein-coding 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] 1580863 11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,16319895,15743504,15489334,14702039,14657031,12956947,12477932,10922056,10500174,10477750,10318877,9469815,9110174,8619474,18162579,18997788,11076961,11340163,19091741,18789487,16861917,16344560,16364912,18485873,19615732,19826416 51434 NM_016238,BC098362,BC099732,BC111798,BC141848,BC148236,BG105587,DB003237,AC144548,CH471054,AF191340,AK021809,AL137586,AL157481,AY007104,BC002941,BC009498,BC017316,BC040130,BC098264,BC098295,NM_001137664 NP_057322,AAH98295,AAH98362,AAH99732,AAI11799,AAI41849,AAI48237,Q2M2R1,Q4KMX6,Q69YV3,Q9UJX3,NP_001131136,EAW97909,EAW97910,EAW97911,AAF05754,BAG51054,CAB70828,CAH10690,AAH02941,AAH09498,AAH17316,AAH98264 Hs.719935 APC7 OTTHUMP00000211291|anaphase-promoting complex subunit 7|cyclosome subunit 7 protein-coding 1353092 ANCR Angelman syndrome chromosome region 282 1349500 ANG angiogenin, ribonuclease, RNase A family, 5 The protein encoded by this gene is an exceedingly potent mediator of new blood vessel formation. It hydrolyzes cellular tRNAs resulting in decreased protein synthesis and is similar to pancreatic ribonuclease. Alternative splicing results in two transcript variants encoding the same protein. This gene and the gene that encodes ribonuclease, RNase A family, 4 share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq] 1580863,2325699,2325702,2325704,2325712,2325717,2325697,2325700,2325708,2317659,2325707,2325714,2317660,2325716,2325719,2325706,2325705,2325710 20174961,11782452,9245697,10103013,2457905,9122172,2424496,2730651,2646638,17125737,2479414,16567967,15166501,11438326,12770725,11984825,9707554,15735021,10999833,15979542,16490744,15776477,3470787,3663649,16461950,19363631,19332886,19253715,19160530,19158252,18955785,18936943,18852347,18808740,18636464,18087731,17900154,17886298,17703939,17462671,17113198,16937522,16322296,15737636,15558023,15557516,15489334,15236995,15182336,15128420,15067362,15064314,14756559,14671622,14593238,12842050,12705339,12515546,12477932,12209593,12168899,11919285,11851402,11847008,11752456,11751393,11468363,11374889,10648935,9918722,9461294,9311977,8159679,8127865,7945327,3619929,2866795,2866794,2742853,2440105,2276743,1978563,10649442,7679494,1400510,16169070,17991437,19262607,19287993,19423182,19625371,19631914,20045391,20452482,20472325,8448182,16712791,20105109,17207965,20577002,20673868,20952631,21085671 2325699,2325702,2325704,2325712,2325717,2325697,2325700,2325708,2317659,2325707,2325714,2317660,2325716,2325719,2325706,2325705,2325710 283 NM_001145,NM_001097577,NG_008717,AF449647,AF449648,AF449649,AF449650,AF449651,AL163636,CH471078,M11567,AK313989,AV646929,BC020704,BC054880,BC062698,BQ773604,CB157060,CB963791,CR407633,FJ236304 NP_001136,NP_001091046,AAL67710,AAL67711,AAL67712,AAL67713,AAL67714,EAW66450,EAW66451,AAA51678,BAG36701,AAH20704,AAH54880,AAH62698,CAG28561,ACI45236,P03950,ADQ32136 Hs.283749 ALS9|HEL168|MGC22466|MGC71966|RNASE4|RNASE5 RNase 5|angiogenin|epididymis luminal protein 168|ribonuclease 5 protein-coding 1314740 ANGEL1 angel homolog 1 (Drosophila) 18029348,12508121,12477932,11943475,9872452 23357 NM_015305,AF111169,CH471061,AB018302,AK025609,AK301069,AK301589,AL137268,BC028714,DB452865 NP_056120,AAD44362,EAW81261,EAW81262,EAW81263,BAA34479,BAG62676,BAG63079,CAB70667,AAH28714,Q9UNK9 Hs.497448 FLJ60172|KIAA0759 protein angel homolog 1 protein-coding 1601837 ANGEL2 angel homolog 2 (Drosophila) 14702039,12477932,11943475 90806 NM_144567,AL592449,CH471100,AF510741,AI658922,AK022855,AK093947,AK294479,AK295116,AK299208,AK299365,AK310946,AK311276,AL079275,AY468376,BC016966,BC047469,BX103687 NP_653168,CAH71919,CAH71920,EAW93365,EAW93366,EAW93367,EAW93368,EAW93369,EAW93370,AAM44053,BAH11783,BAH11980,BAH12969,AAH16966,AAH47469,Q5VTE6,Q96AL9,BAH13016 Hs.157078 FLJ12793|KIAA0759L OTTHUMP00000035021|protein angel homolog 2 protein-coding 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. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. [provided by RefSeq] 1626164,1643339,1643335,1643336,1601496,1643338,1643340,1626162,1626163,1626167,1626168,1626157,2313818,2293864,2293863,2293883,2313817,2293852,704373,1580863,1578337,704403,1578345,1578336,2316067,2316068,2316069,2316041 17466926,20072144,8980223,10766762,14665640,14749497,19487284,19351722,19301945,19300530,19223473,19148554,19127216,19082594,19082480,19028450,19010534,18996102,18991494,18823985,18807212,18675456,18664247,18425120,18382887,18330951,18326231,18310225,18199826,18092380,18080866,18035072,17943167,17803352,17785951,17728252,17724803,17637706,17603084,17562701,17558601,17525262,20471887,17341311,17322632,17168735,17039426,16956819,16917117,16830384,16803467,16723371,16690881,16645159,16614513,16547766,16354591,16049136,16020388,16000309,15892598,15823283,15781448,15769741,15746084,15694363,15692086,15562207,15498854,15453096,15381091,15284220,15242771,15213103,15198927,15161644,15094228,15019820,15001532,14991531,14715662,14672554,14597243,14561809,12958167,12890486,12816861,12810673,12717391,12649156,12612904,12477932,12427764,12402160,12243755,12239588,12213874,12168954,12138242,11967990,11891175,11870550,11856872,11827452,11776343,11729102,11165944,10944458,10854239,10706866,10514510,10343124,10051567,9723709,9660821,9545648,9525952,9204896,8980224,7642106,7584028,7584026,15542434,20554518,10218485,12958144,15851516,18269030,19297368,19322669,19339077,19424712,19476937,19478794,19543148,19615361,19674970,19689429,19733541,19815705,19875484,19916173,19919521,19922791,19954476,20036815,20056911,20098680,20099495,20346360,20378606,9560344,14978158,20602615,20208992 1626164,1643339,1643335,1643336,1601496,1643338,1643340,1626162,1626163,1626167,1626168,1626157,2313818,2293864,2293863,2293883,2313817,2293852,704373,1578337,704403,1578345,1578336,2316067,2316068,2316069,2316041 284 CX867178,NM_001199859,NM_001146,AC091010,AP000428,AP003480,CH471060,AB084454,AK300319,AK304717,AL700429,AW069541,AY055342,AY121504,AY124380,BC029406,BC152411,BC152419,BX648814,D13628,U83508 NP_001186788,NP_001137,EAW91909,EAW91910,EAW91911,EAW91912,BAB91325,BAG62071,BAG65481,AAL59669,AAM81745,AAM92271,AAH29406,AAI52412,AAI52420,CAI45984,BAA02793,AAB50557,Q15389,Q5HYA0,Q5YLW1,Q8N6P3,AAI66662,ACE87374,ACE86690 Hs.369675 AGP1|AGPT|ANG1 ANG-1|angiopoietin-1 protein-coding 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] 2313815,2313934,2314171,2314177,2314180,2314189,2314193,2314210,1601505,1601496,2314294,2293853,2314178,2314185,2314207,2314239,2314205,2314216,2314174,2314204,2314206,1601493,2314213,2313816,2314233,2314184,2313817,1626166,2293852,1580863,1300283 18516587,16129411,9204896,10766762,19351722,19341361,19339208,19300530,19271210,19228739,19223473,19164323,19112163,19082594,19018553,19010534,18996102,18991494,18957536,18952457,18807212,18791490,18720385,18675456,18664247,18644593,18568888,18564921,18541195,20072144,20562294,19728062,20599737,20348331,20088942,18483397,18382887,18310225,18182823,18092380,18006475,17943167,17931370,17928052,17904634,17785951,17724803,17704802,17673702,17630849,17601353,17558601,17513791,17505039,17409768,17395886,17361220,17341311,17322632,17287278,17258205,17200776,17167981,17141400,17030814,17003480,16978614,16978237,16956819,16877277,16830384,16803467,16790091,16723371,16714355,16690881,16629644,16614513,16538528,16525658,16465407,16458662,16424009,16417407,16344560,16338068,16290311,16242072,16182107,16020388,16009172,15823283,15769741,15743799,15734895,15694966,15642468,15562207,15542434,15498854,15489334,15375511,15284220,15284088,15213103,15198927,15161644,15127326,15112366,15094228,15003510,15002056,14991531,14976056,14768007,14767538,14726409,14702352,14568550,14556828,14507641,12861074,12810677,12717391,12477932,12213874,12176040,12138242,11861279,11856872,11578860,11447223,10964717,10514510,10343124,10051567,9927494,9723709,9545648,9373149,8125298,12427764,15893672,12612904,20213583,18269030,19102939,19226440,19403561,19435449,19438587,19476937,19478794,19499513,19502452,19539650,19543148,19551369,19616847,19815705,19875484,19913849,19922791,19954476,20067780,20068079,20099495,20379614,20452482,9660821,20382847,20501615,20583134,20670479,20519501,20673868,17828495,20179005,20208992,20482750 2313815,2313934,2314171,2314177,2314180,2314189,2314193,2314210,1601505,1601496,2314294,2293853,2314178,2314185,2314207,2314239,2314205,2314216,2314174,2314204,2314206,1601493,2314213,2313816,2314233,2314184,2313817,1626166,2293852,1300283 285 NM_001147,NM_001118887,AC018398,AY563557,CH471153,CS322905,AB009865,AF004327,AF187858,AF218015,AJ289780,AJ289781,AK075219,AK225698,AK290070,AK310171,AK312541,BC022490,BC126200,BC126202,BC143902,CR620685,DA829327,NM_001118888 Q9HBP3,NP_001112360,NP_001138,NP_001112359,AAT69979,EAW80472,EAW80473,EAW80474,CAK96154,BAA95590,AAB63190,AAF76526,AAG17257,CAC08179,CAC08180,BAF82759,BAG35440,AAI26201,AAI26203,AAI43903,O15123,Q9H4C0,Q9H4C1,ADR83012 Hs.583870 AGPT2|ANG2 ANG-2|Tie2-ligand|angiopoietin-2|angiopoietin-2B|angiopoietin-2a protein-coding 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] 1580863 19204726,17724803,16790085,15489334,15284220,15198927,12624729,12477932,11856872,11780052,11076863,10343124,10218486,10051567,15542434,20819778,19913121,20628086,20823154,10025962,12958144,15851516 51378 NM_015985,AL050325,AL161939,CH471133,CS322907,CS322909,AF074332,AF113708,AK304756,BC111976,BC111978 NP_057069,CAI22922,CAC09933,EAX10654,CAK96155,CAK96135,AAD31728,AAD21587,BAG65511,AAI11977,AAI11979,Q9Y264,AAI11923,AAI18496 Hs.278973 AGP4|ANG-3|ANG4|MGC138181|MGC138183 ANG-4|angiopoietin-3|angiopoietin-4|dJ824F16.2 (angiopoietin 4) protein-coding 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] 1580863 9286704,8889548,8125298,15542434,10025962,10051567,18644593,18182823,16710414,16303743,15950186,15940350,15489334,15284220,12624729,12477932,10473614,10318855,9373149,20819778 9068 AL355520,CH471067,AB056476,AF086266,AF107253,AK223467,AK300218,AY358278,BC047670,BC050640,BM710120,BX499002,CD356427,CR621065,NM_004673 NP_004664,CAC13169,CAI21921,EAW91032,EAW91033,BAB40691,AAD19608,BAD97187,BAG61986,AAQ88645,AAH50640,O95841,Q53F22 Hs.591474 ANG3|ANGPT3|ARP1|AngY|KIAA0351|UNQ162|dJ595C2.2 ANG-3|OTTHUMP00000038514|angioarrestin|angiopoietin 3|angiopoietin Y1|angiopoietin-3|angiopoietin-like protein 1|angiopoietin-related protein 1|dJ595C2.2 (angiopoietin Y1) protein-coding 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] 1580863 18593905,8619474,17347581,16303743,15489334,15164053,12975309,12624729,12477932,9110174,20304962,17207965,10473614,19723494 23452 NM_012098,AL356862,CH471090,AF007150,AF125175,AK074726,AK075026,AK312876,AL598400,AY358274,BC012368 ADQ32778,NP_036230,CAI39724,CAI39725,EAW87649,EAW87650,EAW87651,EAW87652,AAD55357,BAC11164,BAC11358,BAG35727,AAQ88641,AAH12368,Q8N2J9,Q8NCH7,Q9UKU9 Hs.653262 ARP2|HARP|MGC8889 OTTHUMP00000022160|angiopoietin-like protein 2|angiopoietin-related protein 2 protein-coding 1346260 ANGPTL3 angiopoietin-like 3 The protein encoded by this gene is a member of the angiopoietin-like family of secreted factors. It is predominantly expressed in the liver, and has the characteristic structure of angiopoietins, consisting of a signal peptide, N-terminal coiled-coil domain and the C-terminal fibrinogen (FBN)-like domain. The FBN-like domain in angiopoietin-like 3 protein was shown to bind alpha-5/beta-3 integrins, and this binding induced endothelial cell adhesion and migration. This protein may also play a role in the regulation of angiogenesis. [provided by RefSeq] 1578346,2314234,1580863,1578347 20570916,20571754,20679960,18596051,18535744,18804459,18279878,18193044,18193043,18063851,16531751,16335952,15489334,15340161,12975309,12909640,12624729,12518032,12477932,10644446,12565906,11877390,17110602,19148283,19060906,19028676,17207965,20595410,20942659,19826106,20864672,19487539,19540497,19542565,19656773,19890028,20160193,20714348,20855565,20972250 1578346,2314234,1578347 27329 NM_014495,AL138847,AY569015,CH471059,AF152562,AK289426,AK315304,AY358273,BC007059,BC058287,BG562555,BG564770,CR600651,FJ515851 NP_055310,CAI22994,AAS66984,EAX06583,AAD34156,BAF82115,BAG37708,AAQ88640,AAH07059,AAH58287,Q9Y5C1,ADQ32112,ACS13743 Hs.209153 ANGPT5|FHBL2 ANG-5|angiopoietin 5|angiopoietin-5|angiopoietin-like protein 3|angiopoietin-related protein 3 protein-coding 1344384 ANGPTL4 angiopoietin-like 4 This gene is a member of the angiopoietin/angiopoietin-like gene family and encodes a glycosylated, secreted protein with a fibrinogen C-terminal domain. This gene is induced under hypoxic conditions in endothelial cells and is the target of peroxisome proliferation activators. The encoded protein is a serum hormone directly involved in regulating glucose homeostasis, lipid metabolism, and insulin sensitivity and also acts as an apoptosis survival factor for vascular endothelial cells. The encoded protein may play a role in several cancers and it also has been shown to prevent the metastatic process by inhibiting vascular activity as well as tumor cell motility and invasiveness. Decreased expression of this protein has been associated with type 2 diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq] 1578348,1625353,1625354,1580863,1578349 20595396,10698685,11953136,12707035,18029348,19342599,19270337,19246456,19074989,19060906,19028676,19019854,18974381,18940399,18809343,18634015,18442626,18433990,18394990,17322881,17130448,17068295,17049073,16531751,16303743,16272564,16081640,16049480,15870027,15837923,15579652,15489334,15190076,14583458,12975309,12594814,12477932,12438262,12015030,11940516,11852057,10866690,9373149,8125298,19826106,20829508,18599063,19542565,19628874,19878569,19890028,20162021,19913121,20628086,20660728,17207965,20664963,20729546 1578348,1625353,1625354,1578349 51129 NM_001039667,NG_012169,AC136469,CH471139,AB056477,AF153606,AF169312,AF202636,AK222489,AK222524,AK303269,AW954426,AY358275,BC023647,BG424907,CR590582,CR594816,CR602395,CR606270,CR609072,CR615250,CR615268,CR616961,CR619101,NM_139314 Q9BY76,NP_647475,NP_001034756,EAW68930,EAW68931,BAB40692,AAD41088,AAF62868,AAG22490,BAD96209,BAD96244,BAG64351,AAQ88642,AAH23647,ADQ32223 Hs.9613 ANGPTL2|ARP4|FIAF|HFARP|NL2|PGAR|pp1158 PPARG angiopoietin related protein|angiopoietin-like protein 4|angiopoietin-related protein 4|fasting-induced adipose factor|hepatic angiopoietin-related protein|hepatic fibrinogen/angiopoietin-related protein|peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein protein-coding 1351491 ANGPTL5 angiopoietin-like 5 737633 15489334,12975309,12624729,12477932 737633 253935 NM_178127,AP003383,CH471065,AK291523,AY169281,AY358827,BC049170,BC053957 NP_835228,EAW67006,BAF84212,AAO38749,AAQ89186,AAH49170,Q86XS5 Hs.318370 angiopoietin-like protein 5|angiopoietin-related protein 5|fibrinogen-like protein-coding 1322443 ANGPTL6 angiopoietin-like 6 18464913,16806062,16335952,14764539,12975309,12871997,19447061 83854 NM_031917,AC020931,CH471106,AB054064,AF230330,AY358276,BC142632,CR591845,CR617920,CR621970 NP_114123,EAW84071,EAW84072,BAB91248,AAK06404,AAQ88643,AAI42633,Q8NI99 Hs.712850 AGF|ARP5 angiopoietin-like protein 6|angiopoietin-related growth factor|angiopoietin-related protein 5|angiopoietin-related protein 6 protein-coding 1350833 ANGPTL7 angiopoietin-like 7 1580863 8026862,18421092,16710414,15489334,15340161,12975309,12477932,11682471,11426320,9727400,8144038 10218 NM_021146,AJ300188,AL049653,AL391561,CH471130,DQ012507,AK313716,AY358301,BC001881,BT009802,Y16132 NP_066969,CAC15571,CAB44734,CAI17229,EAW71685,AAY22173,BAG36459,AAQ88668,AAH01881,AAP88804,CAA76078,O43827,ABM83481,ABM86692 Hs.146559 AngX|CDT6|RP4-647M16.2|dJ647M16.1 angiopoietin-like factor (CDT6)|angiopoietin-like protein 7|angiopoietin-related protein 7|cornea-derived transcript 6 protein protein-coding 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] 1599109,1599110,1578350,1580863 20479128,11427698,8640229,9430667,1833445,12409278,379653,18987618,18768923,17720975,17716929,16762928,16718373,15489334,15051494,15040428,17520478,17128827,12719424,12631729,12527750,12477932,12456646,12444090,12130521,12019270,11372755,11222639,10910934,10893266,9804856,9628825,9587054,9373149,9235914,9024692,8703812,8681137,8385102,8227202,8125298,7505012,6449514,2971657,2970468,2968981,2141335,2137557,1689849,492324,16580865,16962094,20379614,16597699,17207965,15929114,20858683,21099109 1599109,1599110,1578350 286 NM_020475,NM_000037,NM_020477,NM_020480,NM_020478,NM_001142445,NM_001142446,AC027702,AC113133,CH471080,S82671,U49691,U50092,U50133,AA404587,AB209418,AI167814,AI684839,AK126647,AK129864,AK223578,BC007930,BC014467,BC030957,BC117121,NM_020476,BX647936,F28948,M28880,N63745,X16609,NG_012820 NP_065209,NP_065208,NP_000028,NP_065210,NP_065213,NP_065211,NP_001135917,NP_001135918,EAW63241,EAW63242,EAW63243,EAW63244,EAW63245,EAW63246,EAW63247,EAW63248,EAW63249,EAW63250,AAB46776,AAB47804,AAB47805,BAD92655,BAG54351,BAD97298,AAH07930,AAH30957,AAI17122,AAA51732,CAA34610,CAA34611,P16157,Q53ER1,Q6PK32,Q9UMG4,AAI56402,ADQ32237 Hs.654438,Hs.667377,Hs.708861 ANK|SPH1|SPH2 ANK-1|OTTHUMP00000196863|OTTHUMP00000196864|ankyrin-1|ankyrin-R|erythrocyte ankyrin protein-coding 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. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq] 1599109,1599110,734572,1599114,1599116 20471030,15262991,15611082,18832177,18790697,18782775,18303017,18275062,18052691,17940615,17474147,17242276,17178715,17161064,17081983,16864073,16292983,16253912,15851119,15310273,15178757,15146197,15075330,14702039,14657231,14593108,12571597,12527750,12477932,11781319,11449000,11149946,10579720,9832558,8253844,7485162,1833308,1830053,2968981,15647482,19109891,20031550,20080650,20332099,20379614,16597699,19913121,20628086 1599109,1599110,734572,1599114,1599116 287 NM_001148,NM_020977,NG_009006,AC004057,AC017007,AC093617,AC093879,AC093900,AC108042,CH471057,M37123,AK095596,AK294720,AK299767,AK299815,AK299893,AK307601,AL706912,BC017986,BC125235,BC125236,BQ716903,NM_001127493,BQ890406,BX537758,BX538132,BX538239,CN259048,CR619899,X56957,X56958,Z26634 NP_001120965,NP_001139,NP_066187,EAX06287,EAX06288,EAX06289,EAX06290,EAX06291,EAX06292,AAA62828,BAH11860,BAH13122,BAH13137,BAH13164,AAI25236,AAI25237,CAD97827,CAD98033,CAD98077,CAA40278,CAA40279,CAB42644,Q01484,Q7Z307,Q7Z344 Hs.620557 DKFZp686M09125|DKFZp686P0948|FLJ38277|LQT4 ANK-2|OTTHUMP00000220392|OTTHUMP00000220393|OTTHUMP00000220397|OTTHUMP00000220398|ankyrin B|ankyrin, brain|ankyrin, nonerythroid|ankyrin-2|ankyrin-2, nonerythrocytic|brain ankyrin|brank-2|non-erythroid ankyrin protein-coding 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. Alternatively spliced variants may be expressed in other tissues. Although multiple transcript variants encoding several different isoforms have been found for this gene, the full-length nature of only two have been characterized. [provided by RefSeq] 734573,1580863 15611082,19088739,18768923,18711365,18635543,18163421,17620337,17373700,17074766,17033732,16775201,16377635,15931389,15823567,15231748,14757759,14702039,12805291,12507143,12036953,11997395,11950515,11807096,11781319,8666667,7836469,7665168,10893266,10907644,14761957,14694156,16385451,20185149,20351715,20379614,20386566,20936779,20636642,20877300,21037240 734573 288 AK295661,AL136710,BG427669,BX537917,BX648574,U13616,NM_001149,AC023904,AL359267,AL359377,AL592430,CH471083,AB209308,AK092361,AK092527,AK124230,AK126851,AK128784,AK292927,NM_020987 BAF85616,BAG58523,CAB66645,CAD97900,CAI56716,AAA64834,Q12955,Q13484,Q59G01,Q5CZH9,Q6ZT73,Q7Z3G4,Q8NAK2,Q9H0P5,ACE87550,ACE86862,NP_066267,NP_001140,CAH73232,CAI41372,CAI41373,CAI40517,CAI40518,CAI40519,CAI40520,CAI40521,EAW54199,EAW54200,EAW54201,EAW54202,BAD92545,BAG52538,BAC03910,BAG54022,BAC86721 Hs.499725 ANKYRIN-G|FLJ45464 ANK-3|OTTHUMP00000217458|OTTHUMP00000217575|ankyrin G119|ankyrin-3|ankyrin-3, node of Ranvier protein-coding 1603564 ANKAR ankyrin and armadillo repeat containing 15110750,14702039,12477932 150709 BC047413,NM_144708,AC012488,AC013468,CH471058,AJ549812,AJ605761,AK027836,AK058144,AK098551,AK126073,AK307328,BC037215,BC044907 AAH47413,Q70AK8,Q7Z5J8,Q8N7F8,Q96LK7,NP_653309,EAX10895,EAX10897,CAD71147,CAE53955,BAB71684,BAC05330,BAC86425,AAH44907 Hs.60772,Hs.655700 FLJ25415 OTTHUMP00000205619|ankyrin and armadillo repeat-containing protein protein-coding 1604469 ANKDD1A ankyrin repeat and death domain containing 1A 12477932 348094 NM_182703,AC069368,CH471082,AK075298,AK098736,AK307698,BC027350,BC042002,BC047571,BC047607,BC101273,BC101274,BC101275,BC101276,BC110610,DR004550 NP_874362,EAW77702,EAW77703,BAC11532,BAC05399,AAH27350,AAH47607,AAI01274,AAI01275,AAI01276,AAI01277,Q495B1,Q6PI29,Q8TAJ8 Hs.207157 FLJ18078|FLJ25870|MGC120305|MGC120306|MGC120307 OTTHUMP00000164131|OTTHUMP00000220561|ankyrin repeat and death domain-containing protein 1A protein-coding 2301773 ANKDD1B ankyrin repeat and death domain containing 1B 15372022,20379614 728780 XM_001128459,XM_001715633,XM_001714483,AC010245,AK307154,CH471084 XP_001128459,XP_001715685,XP_001714535,A6NHY2,EAW95766 Hs.370455 ankyrin repeat and death domain containing 1B|ankyrin repeat and death domain-containing protein 1B|ankyrin repeat and death domain-containing protein ENSP00000345065 protein-coding 1604222 ANKFN1 ankyrin-repeat and fibronectin type III domain containing 1 20379614,18391950,14702039 162282 NM_153228,AC006600,AC006925,AC015724,CH471109,AK095654 NP_694960,EAW94530,EAW94531,EAW94532,BAC04599,Q8N957 Hs.673040 FLJ38335 ankyrin repeat and fibronectin type-III domain-containing protein 1 protein-coding 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. Alternative splicing has been observed at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq] 18029348,17273843,16344560,15328530,14702039,12477932,12168954,10940552,10574462,10092534,9373149,8125298,20562859,19615732 51479 NM_016376,NM_020740,AC087292,AC087742,CH471108,AB033081,AB037360,AB073897,AK025483,AK025717,AK025960,AK057047,AK074324,AK091008,AK225170,AK292930,AK302712,BC052308,BC060812,DA856905,CR933717 NP_057460,NP_065791,EAW90448,EAW90449,EAW90450,BAA86569,BAA90300,BAG51852,BAF85619,BAG63933,AAH52308,Q5H9P4,Q5RKV4,Q9P2R3,CAI46247,AAI48356,AAI52992 Hs.696087 ANKHZN|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 protein-coding 734405 ANKH ankylosis, progressive homolog (mouse) 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] 734569,734571,734570,634632,734964,1580863 20646567,20358596,11326272,10894769,18821330,18299954,17950726,17563703,17403715,17186460,17147692,16724232,16344560,15818664,15780964,15489334,15474385,15461680,14702039,14558096,13130483,12975309,12707589,12632434,12477932,12297989,12297987,12185249,11326338,10997877,10610710,9915952,9382103,9373149,8528213,8125298,19369455,19419319,19449425,19888898,20231843,20379614 734569,734571,734570,634632,734964 56172 NM_054027,NG_008273,AC010491,AC016575,AC025456,CH471102,AB046801,AF274753,AK001799,AK054966,AK130676,AK222631,AK315012,AY358503,BC009835,BC014526,BQ008340,BU193060,CR613693,DA126651 NP_473368,EAX08034,EAX08035,BAB13407,AAF88039,BAG50976,BAD96351,BAG37504,AAQ88867,AAH09835,AAH14526,Q53HE9,Q9HCJ1,ABM83514,ABM86732 Hs.156727 ANK|CCAL2|CMDJ|CPPDD|FLJ27166|HANK|MANK progressive ankylosis|progressive ankylosis protein homolog protein-coding 1606539 ANKHD1 ankyrin repeat and KH domain containing 1 This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. Co-transcription of this gene and the neighboring downstream gene (EIF4EBP3) generates a transcript (MASK-BP3) which encodes a fusion protein comprised of the MASK protein 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] 18029348,16344560,12812986,16956752,16713569,16297570,16098192,14743216,14702039,14557257,12477932,11230166,10470851,16169070 54882 AI675547,DA509209,NM_001197030,NM_017747,NM_024668,NM_017978,AC008438,AC011399,CH471062,AF217646,AF258557,AF521882,AI870943,AK000295,AK000904,AK022041,AK022433,AK024056,AK024189,AK074173,AK098574,AL136943,AY070436,BC004457,BC009420,BC009909,BC040231,BC117677,BC117678,BC127127,BC150486 NP_001183959,NP_060217,NP_078944,NP_060448,EAW62057,EAW62058,EAW62059,AAG41779,AAG23760,AAO14943,BAA91063,BAA91417,BAB13958,BAB14849,BAB84999,CAB66877,AAL65263,AAH04457,AAH09420,AAH09909,AAH40231,AAI17678,AAI17679,AAI27128,AAI50487,Q7Z586,Q8IWG5,Q8IWZ3,Q8TEF1,Q9H059,Q9H7X4,Q9NXF0,AAI72415 Hs.720987,Hs.594084 MASK|PP2500|VBARP HIV-1 Vpr-binding ankyrin repeat protein|OTTHUMP00000159882|OTTHUMP00000174758|VPR-binding ankyrin repeat protein|ankyrin repeat and KH domain-containing protein 1|hMASK|multiple ankyrin repeats single KH domain|multiple ankyrin repeats, single KH-domain homolog protein-coding 1602794 ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 readthrough transcript The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring co-transcribed product of the neighboring ANKHD1 and EIF4EBP3 genes. This fusion 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 co-transcribed mRNA and the function of its protein product have not yet been determined. [provided by RefSeq] 12477932,16297570,20967262,20936779,16344560,14743216,14557257,10470851 404734 NM_020690,AC008438,AC011399,CH471062,AB029008,AF521883,DA859680 NP_065741,EAW62055,BAA83037,AAO14944,Q8IWZ2,AAI72416 Hs.594084 MASK-BP3|MASK-BP3ARF|MASK-BP3arf ANKHD1-EIF4EBP3 protein|MASK-4E-BP3 alternate reading frame|OTTHUMP00000159882|OTTHUMP00000174758 protein-coding 1316285 ANKIB1 ankyrin repeat and IBR domain containing 1 1580863 17081983,15489334,14702039,12477932,10718198,20379614 54467 NM_019004,AC000118,AC000120,AC004539,AC007566,CH236949,CH471091,AB037807,AK001179,AK025475,AK057685,AL137349,BC031483,BC041643,BC063861,BC073893,BC094865 NP_061877,EAW76852,BAA92624,BAA91537,CAB70704,AAH31483,AAH63861,AAH73893,AAH94865,Q4VBX8,Q58F08,Q9P2G1 Hs.725231 DKFZp434A0225|FLJ33123|KIAA1386 ankyrin repeat and IBR domain-containing protein 1 protein-coding 1313623 ANKK1 ankyrin repeat and kinase domain containing 1 1580863 14741327,12762588,12605103,12555236,12471243,12151753,19373123,19339270,19321766,19291230,19283474,19046929,19025655,18927395,18926547,18828801,18698520,18690118,18669994,18354387,18259088,18075468,18063936,18058350,18058343,18037170,17850642,17767146,17761687,17671965,17669630,17453061,17446975,17189962,17120049,17085484,17069991,16869231,16032443,16026865,15939106,15812318,15545020,15542731,15146457,19512960,19692168,19717274,19897017,19900188,19914044,20133381,20138949,20180986,20199723,20410875,20734064,21041608 255239 NM_178510,AF525298,AP002840,CH471065,EF444946,AF487542,AJ541797,NG_012976 NP_848605,AAM91924,EAW67216,EAW67217,ACA05931,AAQ09005,CAD62569,Q8NFD2,AAI56147,AAI72460 Hs.448473 PKK2 X-kinase|ankyrin repeat and protein kinase domain-containing protein 1|protein kinase PKK2|sgK288|sugen kinase 288 protein-coding 1353837 ANKL1 ankyrin-like 1 65976 1605878 ANKLE1 ankyrin repeat and LEM domain containing 1 16344560,15565891,14702039,12477932,20852631,20852633,20237496 126549 NM_152363,AC010463,CH471106,AK092706,AK096688,AK299977,AK303628,BC119015,BC125274,DA900798,DC410789,EU184013 NP_689576,EAW84586,EAW84587,EAW84588,BAC03953,BAC04840,BAG61800,BAG64636,AAI25275,ABW73565,Q8NAG6 Hs.721610 ANKRD41|FLJ39369|LEM3|LEMD6 LEM domain containing 6|LEM-domain containing 3|LEM-domain containing protein 3|OTTHUMP00000198604|OTTHUMP00000198605|ankyrin repeat and LEM domain-containing protein 1|ankyrin repeat domain 41|ankyrin repeat domain-containing protein 41 protein-coding 1604388 ANKLE2 ankyrin repeat and LEM domain containing 2 18029348,17081983,16964243,16344560,15489334,14702039,12477932,9734811 23141 NM_015114,AC135586,AC136467,AB014592,AK024061,AK025933,AK093451,AK293028,BC001530,BC025347,BC043157,BC062373,BC082962,DA757330,DB453975 NP_055929,BAA31667,BAG51259,BAG52720,BAF85717,AAH01530,AAH25347,AAH43157,AAH62373,AAH82962,Q86XL3 Hs.654628 FLJ22280|FLJ36132|KIAA0692|LEMD7 LEM domain containing 7|ankyrin repeat and LEM domain-containing protein 2 protein-coding 1345862 ANKMY1 ankyrin repeat and MYND domain containing 1 1580863 15489334,14702039,12477932,9373149,8125298,20379614 51281 NM_017844,NM_016552,AC124862,CH471063,AB034636,AK000506,AK056511,AK125881,AK225534,AK314534,AL136618,AL833866,BC033495,BC036111,BC041887,BC073146,CR936600,CR936759,AK296714 NP_060314,NP_057636,AAX88942,EAW71187,EAW71188,EAW71189,EAW71190,EAW71191,BAA92844,BAA91213,BAG37125,CAB66553,CAD38724,AAH33495,AAH73146,CAI56748,Q4ZFV3,Q5CZB7,Q6GPI0,Q9P2S6,ACE87543,ACE86856,ACE86879,BAH12418 Hs.656615 DKFZp686D20155|DKFZp686L21237|FLJ20499|ZMYND13 OTTHUMP00000201484|OTTHUMP00000201487|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 1314392 ANKMY2 ankyrin repeat and MYND domain containing 2 737633,1580863 16344560,8889548,15489334,14702039,12690205,12477932 737633 57037 BU674794,DA210027,NM_020319,AC005014,AC073201,CH236948,CH471073,AK001389,AK001740,AK023704,AL050390,BC015453,BC035353,CR598118 NP_064715,EAL24286,EAW93671,EAW93672,EAW93673,EAW93674,BAG50900,BAG51218,CAH56419,AAH15453,AAH35353,Q8IV38,ACE87662,ACE86972 Hs.157378 DKFZp564O043|ZMYND20 OTTHUMP00000201684|ankyrin repeat and MYND domain-containing protein 2 protein-coding 1347651 ANKRA2 ankyrin repeat, family A (RFXANK-like), 2 1580863 11095640,15964851,15489334,14702039,12477932,10965114 57763 NM_023039,AC010279,CH471084,AF251051,AF314032,AK022876,BC012917,CR600986,CR604361,AL558295,DB543368 NP_075526,EAW95729,EAW95730,AAK34941,AAK01621,BAB14288,AAH12917,Q9H9E1,ABM82477,ABM85664 Hs.239154 ANKRA RFXANK-like protein 2|ankyrin repeat family A protein 2 protein-coding 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] 1578366,1578370,1580863 14583192,7730328,19608031,19608030,19589340,18980987,18656235,18273862,17239933,16450059,16344560,15805281,15698842,15489334,15164054,12679596,12524226,12477932,12054667,11309420,20599664,20602615,20628624,19525294,20164196,20860623 1578366,1578370 27063 NM_014391,AF131884,AL590622,CH471066,AK290960,AU139209,AY903446,BC005191,BC018667,X83703,NG_023227 NP_055206,CAC70101,EAW50116,BAF83649,AAX23581,AAH05191,AAH18667,CAA58676,Q05DQ9,Q15327,ABM83778,ABM87098 Hs.448589 ALRP|C-193|CARP|CVARP|MCARP|bA320F15.2 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 protein-coding 1321439 ANKRD10 ankyrin repeat domain 10 14702039,12477932 55608 NM_017664,AL157875,AL442128,BX648721,CH471085,AK000100,AK000111,AK026017,AK094222,AK095763,AK096083,AK123341,AK124233,AK125100,BC001727,BC034813,BC039715,BX641022,CR604585 NP_060134,CAH70238,CAH73037,CAH73039,EAX09134,EAX09135,EAX09136,BAA90945,BAA90951,BAB15323,BAG53125,BAG53208,BAG53891,BAG54142,AAH01727,AAH39715,CAH56123,Q8IUW1,Q9H6D6,Q9NXQ9,Q9NXR5 Hs.525163 DKFZp686B07190|FLJ20093 ankyrin repeat domain-containing protein 10 protein-coding 1315433 ANKRD11 ankyrin repeat domain 11 ANKRD11 is a member of a family of ankyrin repeat-containing cofactors that interacts with p160 nuclear receptor coactivators (see NCOA1; MIM 602691) and inhibits ligand-dependent transcriptional activation (Zhang et al., 2004 [PubMed 15184363]).[supplied by OMIM] 18840648,17521611,17081983,15489334,15184363,14702039,12477932,11483580,19920853 29123 CH471184,AB209186,AF121775,AF130076,AK025964,AK057803,AK093762,AK125549,AK290994,AY131227,AY373756,AY533563,AC137932,NM_013275,AC092120,AC092123,BC007975,BC017437,BC025283,BC031340,BC041059,BC041585,BC052290,BC058001,BC069013,BQ957747 EAW66731,EAW66732,EAW66733,EAW66734,BAD92423,AAF24125,BAF83683,AAN07913,AAR25661,NP_037407,AAS45544,AAH41585,AAH58001,AAH69013,Q59GC3,Q6PEL2,Q6UB99,Q7Z5E5,Q8IVY9,Q9UHR3 Hs.335003 ANCO-1|ANCO1|LZ16|T13 ankyrin repeat domain-containing protein 11|ankyrin repeat-containing cofactor 1|ankyrin repeat-containing protein 11|nasopharyngeal carcinoma susceptibility protein protein-coding 1320836 ANKRD12 ankyrin repeat domain 12 18377363,16582619,15342556,15184363,14702039,12477932,10048485,20379614 23253 NM_015208,NM_001083625,AP001033,AP005263,CH471113,AB020681,AB073645,AB075493,AF147338,AF317425,AK000060,AK021430,AK024808,AK092124,AL834204,AY373757,AY533564,BC057225,BC070234,BP255733,CR605037 NP_056023,NP_001077094,EAX01609,EAX01610,BAA74897,BAE45749,AAG38609,BAA90917,BAB15014,CAH56382,AAR25662,AAS45545,AAH57225,AAH70234,Q3LIB9,Q6NSE1,Q6PG48,Q6UB98,Q9NXU3,AAI56481,AAI72538 Hs.464585 ANCO-2|ANCO1|FLJ20053|GAC-1|KIAA0874|Nbla00144 ankyrin repeat domain-containing protein 12|ankyrin repeat-containing cofactor 2|putative protein product of Nbla00144 protein-coding 1318431 ANKRD13A ankyrin repeat domain 13A 15489334,15231748,14702039,12477932,10508479 88455 NM_033121,AC007546,AC084876,CH471054,AF064604,AF155103,AK022658,AK025261,AK095130,AK130522,AK293232,AK302535,AK308923,AY364251,BC032833,BC057817,CR602264 NP_149112,EAW97891,EAW97892,EAW97893,AAC17109,AAD42869,BAG51101,BAG52990,BAG56771,BAG63807,AAQ76810,AAH32833,Q3ZTS7,Q8IZ07,Q9Y5A3 Hs.528703 ANKRD13|NY-REN-25 NY-REN-25 antigen|ankyrin repeat domain 13|ankyrin repeat domain-containing protein 13A protein-coding 1606740 ANKRD13B ankyrin repeat domain 13B 16344560,15489334,14702039,12477932,16169070 124930 NM_152345,AC104564,CH471159,AK000425,AK092673,AK097716,AK098421,BC032554,BC062597,BG029526,CR602753,DA445860 NP_689558,EAW51199,EAW51200,EAW51201,EAW51202,EAW51203,BAG52589,BAC05148,BAC05304,AAH32554,AAH62597,Q6P5X6,Q86YJ7,Q8N7H6 Hs.662164 FLJ20418|FLJ25555 ankyrin repeat domain-containing protein 13B protein-coding 1604586 ANKRD13C ankyrin repeat domain 13C 11256614,16710414,16381901,15489336,15489334,14702039,12477932,11076863,8889548,11230166,20959461 81573 NM_030816,AL158839,AL353771,AL354721,CH471059,AK074187,AL136717,BC016937,BC028840,BU622247,CD000035,CK299538 NP_110443,CAH70969,CAH70970,CAI22330,CAI22331,CAH73081,CAH73082,EAX06456,EAX06457,BAG51959,CAB66651,AAH16937,AAH28840,Q8N6S4,CAL37790,CAL38346 Hs.726269 DKFZp566D1346|FLJ14998|RP4-677H15.5|dJ677H15.3 ankyrin repeat domain-containing protein 13C protein-coding 1605234 ANKRD13D ankyrin repeat domain 13 family, member D 19913121,20628086,17081983,16713569,15489334,14702039,12477932,16344560 338692 AP001885,CH471076,NM_207354,AK027313,AK057566,AK057681,AK091614,AK096277,AK124721,AK126438,BC044239,BC110419,BC121024,BC121025,DA870287,DB460018,NR_030767 NP_997237,EAW74583,EAW74584,EAW74585,EAW74586,BAG51301,BAG51952,BAC85932,BAC86550,AAH44239,AAI10420,AAI21025,AAI21026,Q0VGC3,Q6ZTN6 Hs.438673 MGC50828 ankyrin repeat domain-containing protein 13D protein-coding 1349121 ANKRD14 ankyrin repeat domain 14 445575 1322851 ANKRD16 ankyrin repeat domain 16 15489334,15164054,14702039,12477932,17207965,20453838 54522 BC062346,BC067892,CR605844,CR608136,CR614996,CR616690,CR619405,BC017324,NM_001009943,NM_001009941,AL137186,AL596094,CH471072,AA431197,AI738771,AK093489,AK094497,AK129672,AL137614,AW470888,AW630443,NM_019046 AAH62346,Q6P6B7,NP_061919,NP_001009943,NP_001009941,CAI41072,EAW86429,CAB70843,ADQ32142 Hs.289828 ankyrin repeat domain-containing protein 16 protein-coding 1607057 ANKRD17 ankyrin repeat domain 17 This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19615732,20200953,20379614,15302935,14702039,14557257,12747765,12477932,11740861,11165478,9734811,8889548,20936779 26057 NM_032217,AC053527,AC095053,AC105757,CH471057,AB014597,AF308285,AI680274,AK025859,AK055209,AK096518,AK299046,AK300302,AK307581,AL831903,NM_198889,BC004173,BC004891,BC007747,BC009043,BC019963,BC029935,BU608983,BU687888,BX648035,CD690889,CR606613,AL833287,BC043394 NP_942592,NP_115593,EAX05654,EAX05655,EAX05656,EAX05657,EAX05658,BAA31672,AAG48253,BAB15260,BAG53312,BAG61120,BAG62055,CAD38571,AAH04173,AAH07747,AAH19963,AAH43394,O75179,AAI46383 Hs.724400,Hs.644997 FLJ22206|GTAR|KIAA0697|NY-BR-16 OTTHUMP00000219061|ankyrin repeat domain-containing protein 17|gene trap ankyrin repeat protein|serologically defined breast cancer antigen NY-BR-16 protein-coding 1352126 ANKRD18A ankyrin repeat domain 18A 14702039,12477932,16344560 253650 AL390726,AL591543,AB095935,AK093059,AK097951,AL834388,AY550933,BC056266,BC131497,BC152434,BQ787286,BX280525,DB066861,NM_147195 CAI17285,BAC23111,BAC04038,AAS57859,AAH56266,AAI52435,Q6QA70,Q8IVF6,Q8NA88,NP_671728 Hs.644630,Hs.493710,Hs.679081 FLJ35740|FLJ40632|KIAA2015|MGC176674 ankyrin repeat domain-containing protein 18A protein-coding 1351862 ANKRD18B ankyrin repeat domain 18B 12477932 441459 XM_001718334,XM_001717197,AL139008,BC009440 XP_001718386,XP_001717249,CAM15100,A2A2Z9 Hs.493710 bA255A11.3|bA255A11.5 ankyrin repeat domain 18B|ankyrin repeat domain-containing protein 18B protein-coding 1604746 ANKRD19 ankyrin repeat domain 19 15489334,15164053,14702039,12477932 138649 NR_026868,AL136981,CH471089,AK093497,AK292218,BC028712,BC038951,BC117367,BC171729,DB449690 EAW62830,EAW62831,EAW62832,EAW62833,BAF84907,AAH38951,AAI17368,AAI71729 Hs.643597 FLJ36178|bA526D8.2 pseudo 1312939 ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle) ANKRD2 belongs to the conserved muscle ankyrin repeat protein (MARP) family. Expression of MARPs is induced in response to physiologic stress, injury, and hypertrophy (Miller et al., 2003 [PubMed 14583192]).[supplied by OMIM] 1580863 11444853,17206105,16344560,16021567,15677738,15489334,15164054,15136035,14702039,14583192,12679596,12477932,12004005,11972353,11453652,10873377,1204005,16385451 26287 AB058599,AJ249975,AJ304805,AJ346356,AJ583444,CH471066,AK056990,NM_001129981,AJ304804,AL355315,AL359388,NM_020349,AK314763,BC020817,BC107759,DA893829 EAW49917,BAB60958,CAB99416,CAC19412,CAE47432,EAW49916,NP_065082,NP_001123453,CAC19411,CAI15462,CAI15463,CAI14193,CAI14194,BAG37301,AAH20817,AAI07760,Q5T457,Q9GZV1 Hs.73708 ARPP|MGC104314 OTTHUMP00000020219|OTTHUMP00000020220|ankyrin repeat domain-containing protein 2|ankyrin-repeat protein|hArpp|skeletal muscle ankyrin repeat protein protein-coding 1343235 ANKRD20A1 ankyrin repeat domain 20 family, member A1 15164053,11230166,11076863,11256614,16381901,15489336 84210 NM_032250,BX649567,AL136793 NP_115626,CAH71137,CAB66727,Q5TYW2,CAL38009,AAI46682 Hs.632671 ANKRD20A|DKFZp434A171 ankyrin repeat domain 20A|ankyrin repeat domain 20a|ankyrin repeat domain-containing protein 20A1 protein-coding 1604891 ANKRD20A2 ankyrin repeat domain 20 family, member A2 15164053,12477932 441430 NM_001012421,AL773545,BX664727 NP_001012421,CAI12706,CAI39536 Hs.632663 MGC176486 ankyrin repeat domain 20 family, member A2 protein-coding 1604892 ANKRD20A3 ankyrin repeat domain 20 family, member A3 15164053,12477932 441425 NM_001012419,AL513478,BC140809,BC171793 NP_001012419,CAH72532,AAI40810,AAI71793,Q5VUR7,AAI67832 Hs.632663 MGC176486|MGC198508 ankyrin repeat domain 20A-related|ankyrin repeat domain-containing protein 20A3 protein-coding 1625837 ANKRD20A4 ankyrin repeat domain 20 family, member A4 15164053 728747 NM_001098805,CR769776,AK307323 NP_001092275,CAI95383,Q4UJ75 Hs.645502 ankyrin repeat domain-containing protein 20A4 protein-coding 2304149 ANKRD20A5 ankyrin repeat domain 20 family, member A5 15489334,15342556,12477932 440482 XM_002345102,XM_002347841,AP001004,CH471113,BC022023,BC127726,BP201899,DB446908 XP_002345143,XP_002347882,EAX01494,EAX01495,EAX01496,AAH22023,AAI27727,A0PJZ0 Hs.632352 MGC26718 Putative ankyrin repeat domain-containing protein 20A-like protein MGC26718|ankyrin repeat domain-containing protein 20A-like protein MGC26718|putative ankyrin repeat domain-containing protein 20A5 protein-coding 3539631 ANKRD20A6P ankyrin repeat domain 20 family, member A6, pseudogene 728157 AC134878,NG_022981 pseudo 4144668 ANKRD20A7P ankyrin repeat domain 20 family, member A7, pseudogene 653436 CR848007,NG_012726 pseudo 1351764 ANKRD20B ankyrin repeat domain 20B 729171 NR_003366,AC073464,AC097374,CR936649 CAI56787,Q5CZ79 Hs.456852 ANKRD20B|DKFZp686H1631 pseudo 1317302 ANKRD22 ankyrin repeat domain 22 737633 16344560,16341674,15489334,15164054,12477932,8889549,16385451,20379614,17207965,20211142 737633 118932 NM_144590,AL157394,AL353113,CH471066,CS300545,AK313969,BC021671,BM785517,DA672161,N95187 NP_653191,CAI13859,CAH72239,EAW50159,CAK32209,BAG36684,AAH21671,Q5VYY1,ADQ33206 Hs.217484 MGC22805 ankyrin repeat domain-containing protein 22 protein-coding 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] 1580863,2314858,2314859 15815621,15489334,15238456,14702039,14583192,12477932,12456686,10737800 2314858,2314859 200539 NM_144994,AC092636,CH471207,AF492401,AJ315766,AK057011,AK092564,AY196212,BC038584,BC107056,BF827606 NP_659431,AAY14965,EAW71331,EAW71332,EAW71333,AAO24067,CAC86120,BAB71342,BAC03915,AAO40750,AAI07057,Q86SG2,Q96MF3 Hs.643430 DARP|FLJ32449|MARP3|MGC129593 OTTHUMP00000207608|ankyrin repeat domain-containing protein 23|diabetes related ankyrin repeat protein|diabetes-related ankyrin repeat protein|muscle ankyrin repeat protein 3 protein-coding 1322819 ANKRD24 ankyrin repeat domain 24 15146197,12477932,11853319,16169070,20936779 170961 NM_133475,AC005578,AC006930,AB075861,BC028236,BI914435,BX117359,BX359277,CN286920 NP_597732,AAC33490,AAD15479,BAB85567,Q8TF21 Hs.197872 KIAA1981 ankyrin repeat domain-containing protein 24 protein-coding 1314711 ANKRD26 ankyrin repeat domain 26 17081983,16344560,15489334,15203218,15164054,14702039,12477932,10470851,20877624 22852 NM_014915,AL162272,CH471072,AB028997,AK001137,AK128577,AL137351,AL162063,BC110646,BC130453,CD626319,DA712092,DB228067 NP_055730,CAC19649,EAW86073,BAA83026,BAA91516,BAC87508,CAB70706,CAB82401,AAI10647,AAI30454,Q9UPS8 Hs.361041 MGC163325|bA145E8.1 ankyrin repeat domain-containing protein 26 protein-coding 1602441 ANKRD26P1 ankyrin repeat domain 26 pseudogene 1 12477932,11181995 124149 AC092368,AC106819,CH471092,AK125968,BC070117,BX648636,CD000265,CR749347,NR_026556 EAW82764,BAC86367,CAH18200,Q68DM0,Q6NSI1,Q6ZU59 Hs.97414 DKFZp781D1722|FLJ43980|MGC87661 pseudo 1316102 ANKRD27 ankyrin repeat domain 27 (VPS9 domain) 737633,1580863 16525121,11256614,18477474,16381901,15498874,15489336,15489334,15231748,14702039,12477932,11230166,11076863,19745841,19913121,20628086 737633 84079 NM_032139,AC008474,AA903176,AF447882,AK054561,AL136784,AL834335,BC015552,BC045605,BC050529,BI462844 NP_115515,AAQ04657,BAB70755,CAB66718,CAD39003,AAH50529,Q96NW4,CAL38738 Hs.59236 DKFZP434L0718|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 1343361 ANKRD28 ankyrin repeat domain 28 17928403,18186651,19118547,17023142,16564677,14743216,14702039,12477932,12168954,9205841,15146197,19596235,19615732 23243 NM_015199,AC090945,AC090950,CH471055,AB002377,AI565587,AK126888,AK293770,AK295813,AK299540,AY367056,BC035170,BC048975,BC064513,BC080522,BC106948,BC113868,BC114476,BQ423818,CN313636,NM_001195098,NM_001195099 NP_056014,EAW64257,EAW64258,EAW64259,EAW64260,EAW64261,EAW64262,EAW64263,EAW64264,EAW64265,BAA20833,BAC86737,BAG57186,BAG58631,BAG61487,AAQ72374,AAI06949,AAI13869,AAI14477,O15084,Q1WWL4,Q29RW6,Q3B857,AAI66612,NP_001182027,NP_001182028 Hs.335239 KIAA0379|PITK OTTHUMP00000207863|OTTHUMP00000208043|PP6-ARS-A|ankyrin repeat domain-containing protein 28|phosphatase interactor targeting K protein|phosphatase interactor targeting protein hnRNP K|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 1317259 ANKRD29 ankyrin repeat domain 29 737633 15489334,14702039,12477932,8889548,17207965 737633 147463 NM_173505,AC010853,CH471088,AK057782,AK123197,AK313667,BC030622,BM680506 NP_775776,EAX01159,EAX01160,BAB71569,BAC85555,BAG36419,AAH30622,Q8N6D5,ADQ31854 Hs.374774 FLJ25053 ankyrin repeat domain-containing protein 29 protein-coding 1350593 ANKRD30A ankyrin repeat domain 30A 1580863 15164054,11280766,18029348,19043545,18464913,18041742,17903294,17536312,17330232,16675566,16335914,15342556,16385451 91074 NM_052997,AC067744,AL157387,AL357148,CH471072,AF269087,BP312910,DN831985 NP_443723,CAH71319,CAH71320,CAI16567,CAI16568,EAW85904,AAK27325,Q9BXX3,AAI72447 Hs.373787 NY-BR-1|RP11-20F24.1 OTTHUMP00000019458|ankyrin repeat domain-containing protein 30A|breast cancer antigen NY-BR-1|serologically defined breast cancer antigen NY-BR-1 protein-coding 1354207 ANKRD30B ankyrin repeat domain 30B 12477932,11280766 374860 AADB02020312,AADB02020314,AADB02020315,AADB02020317,NM_001145029,AP005121,AP006507,AP006564,AP006565,CH471277,AF269088,AK294693,BC028407 NP_001138501,EAW53959,AAK27326,BAG57852,Q9BXX2 Hs.567889 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 1354086 ANKRD31 ankyrin repeat domain 31 14702039 256006 NM_001164443,AC008769,AC093259,AK097510 NP_001157915,BAC05081,Q8N7Z5 Hs.482533 FLJ40191 ankyrin repeat domain-containing protein 31 protein-coding 1312535 ANKRD32 ankyrin repeat domain 32 15632077,12477932,11230166 84250 DR001089,NM_032290,AC008534,CH471084,AK309859,AL050298,AL136560,BC054885,BC063674,BC070332,BC107571,BU431750,CR533539,CR936768,AC025766,AK297452,AK299080,BC015315 Q9BQI6,ACE87625,ACE86937,NP_115666,EAW96026,EAW96027,EAW96028,EAW96029,CAB43397,CAB66495,AAH54885,AAH63674,AAH70332,AAI07572,CAG38570,BAG59876,BAG61145 Hs.657315 BRCTD1|BRCTx|DKFZp564C0469|DKFZp761C121 BRCT domain containing 1|BRCT domain-containing protein 1|ankyrin repeat domain-containing protein 32 protein-coding 1344617 ANKRD33 ankyrin repeat domain 33 12477932,16541075,14702039,21107309 341405 AF517117,AF517118,AF517119,AF517120,AK125517,BC121152,BC121153,BX537908,BX640656,BX647684,BX649168,NM_001130015,AC025259,CH471111,AF517108,AF517109,AF517110,AF517111,AF517112,AF517113,AF517114,AF517115,AF517116,NM_182608 AAQ07995,AAQ07996,AAQ07997,AAQ07998,BAC86190,AAI21153,AAI21154,CAD97893,CAE45798,Q0VAA8,NP_872414,NP_001123487,EAW58207,EAW58208,EAW58209,EAW58210,AAQ07989,AAQ07990,AAQ07991,AAQ07992,AAQ07993,AAQ07994,Q5K617,Q5K618,Q5K620,Q5K625,Q5K626,Q7Z3H0 Hs.433492 C12orf7|DKFZp686O1689 ankyrin repeat domain-containing protein 33 protein-coding 2307384 ANKRD33B ankyrin repeat domain 33B 15372022,14702039 651746 NM_001164440,AC106760,AC112200,AK023999,BC018597 NP_001157912,A6NCL7 Hs.26039 Ankyrin repeat domain-containing protein LOC651746|ankyrin repeat domain-containing protein 33B protein-coding 1347090 ANKRD34A ankyrin repeat domain 34A 14702039 284615 NM_001039888,AL160282,AK094282,AK128050,AL359622 NP_001034977,BAG52855,BAG54622,CAH10676,Q69YU3 Hs.620591 ANKRD34|DKFZp761F202 ankyrin repeat domain 34|ankyrin repeat domain-containing protein 34A protein-coding 1604706 ANKRD34B ankyrin repeat domain 34B 12477932,15358210 340120 NM_001004441,AC008434,AC018764,CH471084,BC137441,BC137442,BC142957,CR749535 NP_001004441,EAW95857,EAW95858,AAI37442,AAI37443,AAI42958,CAH18341,A5PLL1,AAI43088,AAI43089,ACE86934 Hs.519404 DP58 OTTHUMP00000222289|ankyrin repeat domain-containing protein 34B|cytosolic phosphoprotein DP58|dendritic phosphoprotein 58 kDa protein-coding 2291762 ANKRD34C ankyrin repeat domain 34C 14702039 390616 NM_001146341,AC011797,AK090665,AK127037,AL109678 NP_001139813,P0C6C1 Hs.531231 FLJ33346|FLJ45093 ankyrin repeat domain-containing protein 34C protein-coding 1352290 ANKRD35 ankyrin repeat domain 35 16710414,16344560,15489334,14702039,12477932,12107411 148741 NM_144698,AL160282,CH471244,AK057853,AK091120,AK294308,AK296861,AW245831,BC101618,BC101620,BQ636616,CR621087,DA399526 NP_653299,EAW71426,EAW71427,BAB71597,BAC03587,BAG57587,BAG59424,AAI01619,AAI01621,Q8N283 Hs.710624 FLJ25124|MGC126667|MGC126669 ankyrin repeat domain-containing protein 35 protein-coding 1342961 ANKRD36 ankyrin repeat domain 36 737633 16344560,15815621,15489334,14702039,12975309,12477932,10997877,8889548,17207965 737633 375248 NM_001164315,AC018892,AC160020,CH471207,AB046861,AF543495,AK090926,AK304740,AK307629,AK316541,AY358571,BC046186,DA952980,DB516113,DW413497,BC128262,BC128517,BC146835,BX647769 NP_001157787,AAY14642,EAW71306,EAW71307,BAB13467,AAN40505,BAG65500,BAH14912,AAQ88934,AAH46186,A6QL64,ADQ33052,AAI28263,AAI28518,AAI46836 Hs.541894 FLJ33607|KIAA1641|MGC167812|UNQ2430 OTTHUMP00000207832|ankyrin repeat domain-containing protein 36|ankyrin repeat domain-containing protein 36A|ankyrin-related protein-coding 1352925 ANKRD36B ankyrin repeat domain 36B 737633 16344560,15489334,14702039,12477932,12107410,10997877 737633 57730 BC071771,BC125132,BC125133,BM511319,CA394381,CR741521,DB105321,DB353103,DR001190,AC017099,AC073995,AC159540,CH878726,AF432208,AF432209,AK024934,AK056042,AK074570,BC017427,BC031883,BC038460,BC044844,NM_025190 AAI25133,AAI25134,Q8N2N9,Q8TDH5,NP_079466,AAY24080,EAW53903,EAW53904,EAW53905,EAW53906,EAW53907,EAW53908,AAL99915,AAL99916,BAB15039,BAB71081,BAC11066,AAH31883,AAH44844 Hs.532921,Hs.541894 FLJ21281|FLJ90089|KIAA1641|MGC149864|MGC149865|MGC167812 CLL-associated antigen KW-1|OTTHUMP00000161108|ankyrin repeat domain 36B|ankyrin repeat domain-containing protein 36B|kiaa1641|melanoma-associated antigen protein-coding 2303683 ANKRD36BL1 ankyrin repeat domain 36B-like 1 (pseudogene) 16344560,12477932,16189514 84832 NR_026844,AL009051,BC007072,DA219755,DA246884,DB229590 CAI22641,Q96IX9 Hs.537067 ANKRD26L1|ANKRD36BL1|MGC12538 pseudo 4144543 ANKRD36BP2 ankyrin repeat domain 36B pseudogene 2 12477932,14702039 645784 AC096579,AK097649,AL137717,BC031698,BX537549,BX648045,CR596262,NR_015424 Hs.105323 DKFZp434J1630|DKFZp686E1246|DKFZp686O04183|FLJ40330 pseudo 3378225 ANKRD36P1 ankyrin repeat domain 36 pseudogene 1 100132420 AADB02037628,AC013734 pseudo 1604164 ANKRD37 ankyrin repeat domain 37 15809689,15489334,12477932,19491311 353322 NM_181726,AC106897,CH471056,AK303243,AY296056,BC088376 NP_859077,EAX04647,EAX04648,BAG64328,AAP50252,AAH88376,Q7Z713 Hs.508154 Lrp2bp|MGC111507 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 1602717 ANKRD39 ankyrin repeat domain 39 16344560,15815621,15592455,15489334,12477932,11042152,17207965 51239 NM_016466,AC092636,CH471207,AF151034,AK312193,BC031303,BU626151,BX091421,DA769410 NP_057550,AAY14966,EAW71328,EAW71329,EAW71330,AAF36120,BAG35126,AAH31303,Q53RE8,ADQ32451 Hs.709507 MGC41816 OTTHUMP00000207740|ankyrin repeat domain-containing protein 39 protein-coding 1602991 ANKRD40 ankyrin repeat domain 40 19913121,20628086,15489334,12477932,17207965 91369 NM_052855,AC005921,CH471109,AK314010,BC005853,BC012978,CR616806,CR627413,EU164539,CR620109 NP_443087,EAW94589,BAG36721,AAH12978,CAH10502,ABW05020,Q6AI12,ADQ32683 Hs.463426 DKFZp451K241|MGC15396 ankyrin repeat domain-containing protein 40 protein-coding 1605233 ANKRD42 ankyrin repeat domain 42 17123353,15489334,14702039,12477932 338699 NM_182603,AP000873,CH471076,AK095193,AK310765,BC045621,BC062729,BC171752,BX648690,CA447533,DQ508815,DQ508934,EF041819 NP_872409,EAW75086,EAW75087,BAC04496,AAH45621,AAH62729,ABF60230,ABF57994,ABL09300,Q6P5R7,Q8N9B4 Hs.503438,Hs.657164 FLJ37874|SARP ankyrin repeat domain-containing protein 42|several ankyrin repeat protein protein-coding 1602435 ANKRD43 ankyrin repeat domain 43 15489334,14702039,12477932 134548 NM_175873,AC004775,CH471062,AK090823,AK092782,AW450551,BC104771,BC104775,BF437580,BF967159,BM967275,DB481577,DN949321 BAC03975,NP_787069,EAW62313,EAW62314,AAI04772,AAI04776,Q2M3V2 Hs.13308 ankyrin repeat domain-containing protein 43 protein-coding 1605602 ANKRD44 ankyrin repeat domain 44 16555005,18186651,19240061,15489334,14702039,12477932,19596235,20379614 91526 NM_153697,AC013264,AC017035,CH471063,AK097086,AK124039,AK301209,AL133087,BC016985,BC050586,BC063622,AI439698,NM_001195144,AK021632 NP_710181,AAX93155,AAY15060,EAW70141,EAW70142,BAC04946,BAH13433,CAB61404,AAH16985,AAH50586,AAH63622,Q53T07,Q8N8A2,NP_001182073 Hs.432706 FLJ11570|MGC21968|MGC70444|PP6-ARS-B OTTHUMP00000205625|OTTHUMP00000205626|PP6-ARS-B|ankyrin repeat domain-containing protein 44|protein phosphatase 6 ankyrin repeat subunit B|serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B|serine/threonine-protein phosphatase 6 regulatory subunit ARS-B protein-coding 1606657 ANKRD45 ankyrin repeat domain 45 12477932,16710414,14702039 339416 NM_198493,AL139142,BX248409,CH471067,AK127170,BC029866,BC126353,BC126355 NP_940895,CAI20937,CAH72999,EAW90950,BAC86865,AAI26354,AAI26356,Q5TZF3,ADR82913 Hs.130054 CT117|FLJ45235|MGC161631|MGC161633|RP3-436N22.4 OTTHUMP00000038346|ankyrin repeat domain-containing protein 45|cancer/testis antigen 117 protein-coding 1606443 ANKRD46 ankyrin repeat domain 46 21041692,15489334,14702039,12477932,9110174,8619474 157567 NM_198401,AP000424,CH471060,AB077205,AK095235,AL832842,BC015811,BC035087,BC050396,BC060843,CR591950,CR607125,CR623732,U79297 NP_940683,EAW91808,EAW91809,EAW91810,EAW91811,BAD23947,BAG53011,CAI46169,AAH50396,AAH60843,Q86W74 Hs.700353 ANK-S|ankyrin repeat domain-containing protein 46|ankyrin repeat small protein protein-coding 1606551 ANKRD49 ankyrin repeat domain 49 15489334,14702039,12477932,11371508,11162141,16131492,19773279,17207965 54851 NM_017704,AP000786,AP000943,CH471065,AF025354,AK000196,AK000448,AK057696,AL833977,BC017798,BG025192,CR609043 NP_060174,EAW66935,EAW66936,AAK60412,BAA91003,CAD38821,AAH17798,Q8WVL7,ACE87163,ACE86482,ADQ32155 Hs.29052 FGIF|FLJ20189|FLJ20441|GBIF ankyrin repeat domain-containing protein 49|fetal globin-inducing factor protein-coding 1312470 ANKRD5 ankyrin repeat domain 5 1580863 14702039,12477932,11780052,20211142 63926 NM_022096,NM_198798,AL109754,CH471133,AK025322,AK074463,AK097689,BC011591,BC022878,BC028189,BI562273,BI826033,HI573924,HI573926 NP_071379,NP_942093,CAB87618,EAX10355,BAB15111,BAG53512,AAH22878,Q8TCA8,Q9NU02,ABM81831,ABM84984,CBX47451,CBX47452 Hs.70903 FLJ21669|dJ839B4.6 OTTHUMP00000030263|ankyrin repeat domain-containing protein 5 protein-coding 1603620 ANKRD50 ankyrin repeat domain 50 14702039,12477932,10574462 57182 NM_020337,AC105421,CH471056,AB033049,AF075020,AK091516,AK127496,AK291068,AK295135,AL110131,BC024725,BE887185,BX508307,BX640674,CD359799,AA628892,CX871714,NM_001167882,CR591248 NP_065070,EAX05206,BAA86537,BAC87007,BAF83757,BAG58158,AAH24725,CAE45806,Q8TB46,Q9ULJ7,NP_001161354 Hs.480694 KIAA1223 OTTHUMP00000220149|ankyrin repeat domain-containing protein 50 protein-coding 1601705 ANKRD52 ankyrin repeat domain 52 18186651,16964243,16541075,14702039,12975309,12477932,19913121,20628086,19596235,19615732 283373 NM_173595,AC073896,CH471054,AB190990,AK056831,AK125379,AK126893,AY358160,BC024309,BC042070,DR002390 NP_775866,EAW96919,BAG16262,BAG54192,AAQ88527,Q6UXY5,Q8NB46 Hs.524506 ANKRD33|FLJ34236 CVWG5837|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 1605329 ANKRD53 ankyrin repeat domain 53 16344560,15489334,14702039,12477932 79998 NM_024933,NM_001115116,AC007040,CH471053,AK022118,AK093479,BC035234,CR604385,DB036445 NP_079209,NP_001108588,EAW99786,EAW99787,EAW99788,EAW99789,BAC04181,AAH35234,Q8N9V6 Hs.512744 FLJ12056|FLJ36160 OTTHUMP00000203459|OTTHUMP00000203460|ankyrin repeat domain-containing protein 53 protein-coding 1605877 ANKRD54 ankyrin repeat domain 54 15489334,15461802,14702039,12477932,10591208 129138 NR_036556,CD300696,NM_138797,CH471095,Z97630,AK127583,BC014641,BC066909,CR456471,CR592145,CR595513,CR600489,CR610061,CR617257,CR626329,BX401122 NP_620152,EAW60192,EAW60193,EAW60194,CAB63057,BAC87043,AAH14641,AAH66909,CAG30357,Q6NXT1 Hs.135259 LIAR OTTHUMP00000198182|OTTHUMP00000198183|OTTHUMP00000198184|OTTHUMP00000198186|ankyrin repeat domain-containing protein 54 protein-coding 4889255 ANKRD54P1 ankyrin repeat domain 54 pseudogene 1 100419962 AL358394,NG_025432 pseudo 1605952 ANKRD55 ankyrin repeat domain 55 16344560,15489334,15372022,14702039,12477932,20453842,20595579,20211142,20973039,20080650 79722 NM_024669,AC016585,AC016638,CH471123,AK021857,AK123389,AW269928,BC106914,BC106915,DA292581 NP_078945,EAW54941,BAB13916,BAG53900,AAI06915,AAI06916,Q3KP44 Hs.436214 FLJ11795|MGC126013|MGC126014 OTTHUMP00000221878|OTTHUMP00000221879|ankyrin repeat domain-containing protein 55 protein-coding 1605533 ANKRD56 ankyrin repeat domain 56 12477932 345079 NM_001029870,BC137241,BC137255 NP_001025041,AAI37242,AAI37256,A6NEL2 Hs.257292 ankyrin repeat domain-containing protein 56 protein-coding 1349983 ANKRD57 ankyrin repeat domain 57 15489334,15815621,16964243,14702039,12477932 65124 NM_023016,AK023346,AK025523,BC036652,BC066772,CR622761,AC011753,AC140485,CH471182 BAB15161,AAH36652,Q53LP3,NP_075392,AAY24292,AAY24143,EAW53857 Hs.355455 C2orf26|c2orf26 ankyrin repeat domain-containing protein 57|chromosome 2 open reading frame 26 protein-coding 3476309 ANKRD57P1 ankyrin repeat domain 57 pseudogene 1 100131984 AC134878,NG_022994 pseudo 1606099 ANKRD58 ankyrin repeat domain 58 15772651 347454 NM_001105576,AC005052,CD368490,CR593492 NP_001099046,A6NJG2 Hs.355223 ankyrin repeat domain-containing protein 58 protein-coding 1317569 ANKRD6 ankyrin repeat domain 6 20736409,17592114,14702039,14574404,12477932,12203740,12183362,10231032,8889548,19591803 22881 GU727626,NM_014942,AL096678,AL136971,AL138717,AL159174,CH471051,AB023174,AK021550,AK074189,AK092235,AK096867,AK295731,AK307792,AL117504,BC001078,BC042173,BM974140,CR608573,DN999929 ADU87628,NP_055757,CAI42280,CAI42281,EAW48550,EAW48551,EAW48552,EAW48553,BAA76801,BAG52502,BAG53385,BAH12168,CAB55968,AAH01078,AAH42173,Q9BVM3,Q9Y2G4 Hs.702213 DIVERSIN OTTHUMP00000016856|ankyrin repeat domain-containing protein 6|diversin protein-coding 1315900 ANKRD60 ankyrin repeat domain 60 19913121,20628086,11780052,19893584 140731 XM_001134442,XM_001134462,XM_001717339,AL354776,CH471077 XP_001134442,XP_001134462,XP_001717391,CAI94996,EAW75502,Q9BZ19 C20orf86|bA196N14.3 OTTHUMP00000031385|ankyrin repeat domain-containing protein 60|chromosome 20 open reading frame 86 protein-coding 2302254 ANKRD62 ankyrin repeat domain 62 342850 XM_292717,XM_942193,XM_001715728,AP002414,CH471113,BX648696,BX649021,XM_003118756,XM_003119697,XM_003120904 XP_292717,XP_947286,XP_001715780,EAX01557,A6NC57,EAX01556,XP_003118804,XP_003119745,XP_003120952 Hs.448906 DKFZp686E2239|DKFZp779B1634 ankyrin repeat domain-containing protein 62 protein-coding 1352130 ANKRD7 ankyrin repeat domain 7 1580863 8812458,15489334,15342556,12853948,12477932,9847074,16169070 56311 NM_019644,AC004029,AC006389,AC007874,CH236947,CH471070,AA435914,AI126287,AI149744,AK302407,BC007020,BC032799,BP369869,D78334,DB442002,DB447815 NP_062618,AAB97503,AAF19231,EAW83538,EAW83539,BAG63717,AAH07020,AAH32799,BAA11348,Q92527,Q9UPM1 Hs.655046 TSA806 OTTHUMP00000211149|OTTHUMP00000211150|ankyrin repeat domain-containing protein 7|testis-specific ankyrin motif containing protein|testis-specific protein TSA806 protein-coding 1316983 ANKRD9 ankyrin repeat domain 9 15489334,12508121,12477932 122416 NM_152326,AL136293,CH471061,AK291868,BC015422,BC027479,BX161460,CR592710,CR595580,CR602541,CR609368,CR616439,CR621329 NP_689539,EAW81791,EAW81792,BAF84557,AAH15422,AAH27479,CAD61921,Q96BM1,ABM82613,ABM85797 Hs.432945 MGC21990 ankyrin repeat domain-containing protein 9 protein-coding 1319381 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A 19913121,20546612,20628086,20659327,10958799,20379614,15324660,17353931,18391951,15500253,15489334,15345747,15302935,14574404,12477932,12439753,9039502,8889548,15778465 23294 NM_015245,AL033520,AL138721,AL591002,CH471081,AK025381,AK298987,BC022396,BC031934,BC049213,BC132832,BC144341,BF592042,BQ216321,BU676295,BX094969,CR625673,D86982 NP_056060,CAI20281,CAI12437,CAI15138,EAX03800,EAX03801,EAX03802,EAX03803,EAX03804,BAG61080,AAH22396,AAH31934,AAI32833,BAA13218,Q05CP0,Q49AR9,Q92625 Hs.656492 ANKS1|KIAA0229|MGC42354 Odin|ankyrin repeat and SAM domain containing 1|ankyrin repeat and SAM domain-containing protein 1A protein-coding 1602104 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 19913121,20578947,20628086,16386788,15862129,15347684,15004329,12837293,12700034,12508107,12477932,12415113,10490826,20966902,21107309,16537434,19666031,19721433,19851462,20161521,20379614 56899 NM_020140,NM_181670,AC008126,AC011248,AC021653,AC048330,AC069437,AC078916,AC079954,AC084374,AC117377,AC126616,AC141554,AC141555,AC141556,AF145204,AF164792,AK124453,AK289768,AK294191,AK294994,AK295988,AK315954,AM980945,AY281131,AY281132,AY283057,AY356353,NM_152788,AY620824,AY753193,BC026313,BC068451,BC091512,BC142669,BC150204,BG338019,BQ614098,BU568171,CR602042,CR624934,D80328 NP_690001,NP_064525,NP_858056,AAD33951,AAF80756,BAF82457,BAG57507,BAG58059,BAG58763,BAH14325,CAQ37746,AAP37612,AAP37613,AAP38184,AAQ56189,AAT39519,AAV28691,AAH26313,AAH68451,AAI42670,AAI50205,Q6V0K8,Q7Z6G8,AAI60005 Hs.506458 AIDA|AIDA-1|ANKS2|EB-1|EB1|MGC26087|cajalin-2 E2a-Pbx1-associated protein|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 protein-coding 1604545 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 16964243,16713569,14702039,12477932,11853319,17081983 124401 NM_133450,AC020663,AC023830,CH471112,AB075857,AK056907,AK057329,AK123371,AK123496,AK301683,BC032314,BC050387,CR624377 NP_597707,EAW85269,EAW85270,EAW85271,EAW85272,EAW85273,EAW85274,EAW85275,BAB85563,BAG51903,BAC85597,BAC85629,BAG63156,AAH50387,Q6ZW76,Q86W77 Hs.654859 FLJ32345|FLJ32767|KIAA1977 ankyrin repeat and SAM domain-containing protein 3 protein-coding 1606413 ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B 15461667,14702039,12588794,12477932 257629 NM_145865,AF001550,CH471228,AK096138,BC111784,BC112368 NP_665872,EAW66861,BAC04707,Q8N8V4,AAI60087 Hs.115959 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 1319654 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 18029348,18978678,18434273,15489334,15164053,14702039,12477932 203286 AL353782,AL807776,CH471105,DQ309777,DQ309778,DQ309779,DQ309780,DQ309781,DQ309782,DQ309783,DQ309784,DQ309785,DQ309786,DQ309787,DQ309788,DQ309789,DQ309790,DQ309791,AK074328,AK094247,AK126614,AK127702,BC012981,BC064367,CR625196,CR749467,NM_173551,CR749472 NP_775822,CAH71295,CAH71296,CAM14169,CAH69985,CAH69986,CAM13062,EAW58892,EAW58893,EAW58894,EAW58895,ABC48694,BAC04317,BAG54553,AAH64367,CAH18298,CAH18302,Q68DC2 Hs.406890 ANKRD14|DKFZp686D24121|DKFZp781I0117|MGC70366|SAMD6 OTTHUMP00000021780|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 1602704 ANKZF1 ankyrin repeat and zinc finger domain containing 1 17081983,16964243,16344560,16169070,15489334,14702039,12477932,9373149,8125298 55139 NM_018089,NM_001042410,AC068946,CH471063,AF364318,AK001277,AK023206,AK056060,AK095304,AK098282,AK225275,AK225309,AK303077,AK303537,BC000238,BC008948,BC028334,CR601291,CR618990,DA226194,DA899467,DQ412564 NP_060559,NP_001035869,EAW70708,EAW70709,EAW70710,BAA91596,BAB14462,BAG64193,BAG64563,AAH00238,AAH08948,ABD65410,Q9H8Y5 Hs.437647 FLJ10415|FLJ13144|ZNF744 OTTHUMP00000205942|ankyrin repeat and zinc finger domain-containing protein 1|zinc finger protein 744 protein-coding 1320339 ANLN anillin, actin binding protein 1580863 10931866,18158243,17081983,16964243,16357138,16203764,16129829,16040610,15800069,15635413,15616196,15496454,15489334,15302935,14702039,12637748,12479805,12477932,17643375,19995712 54443 NM_018685,AC006960,CH236951,CH471073,AF273437,AK001468,AK001472,AK023208,AK094574,AK291254,AK299803,BC034692,BC070066,BQ434804,BU630923,CR936650,BE885510,CS401486 NP_061155,EAW94067,EAW94068,EAW94069,EAW94070,EAW94071,EAW94072,AAF75796,BAA91710,BAA91711,BAB14463,BAF83943,BAG61678,AAH34692,AAH70066,CAI56788,Q9NQW6,CAL40337 Hs.62180 DKFZp779A055|Scraps|scra actin-binding protein anillin protein-coding 1321890 ANO1 anoctamin 1, calcium activated chloride channel 737633 19372102,19606013,19654323,19687122,19773279,19819874,19823864,21092923,19015192,19011564,18772398,18724360,18648740,15067359,14702039,12739008,12477932,20716167,20716168,19913121,20628086 737633 55107 DB445158,DB450993,NR_030691,NM_018043,AP000879,CH471076,AI694083,AK001123,AK097619,AK293088,AK303971,AL833582,AY728143,BC027590,BC033036,CF593428 NP_060513,EAW74757,EAW74758,EAW74759,BAA91513,BAC05123,BAF85777,BAH14087,AAU82085,AAH27590,AAH33036,Q5XXA6,Q8NCT7,Q9NW72 Hs.503074 DOG1|FLJ10261|ORAOV2|TAOS2|TMEM16A 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 1605667 ANO10 anoctamin 10 19015192,14702039,12477932 55129 NM_018075,AC097638,AC104184,AC105903,AC135852,CH471055,AA252209,AK096302,AK131223,AK292368,AK295969,AK297949,AL832508,BC038855 NP_060545,EAW64695,EAW64696,EAW64697,EAW64698,BAG53253,BAG54755,BAF85057,BAG58745,BAG60264,Q9NW15,AAI56279,AAI57062 Hs.656657 FLJ10375|MGC47890|TMEM16K OTTHUMP00000209959|anoctamin-10|transmembrane protein 16K protein-coding 1352763 ANO2 anoctamin 2 1580863 19561302,19474308,19165232,19015192,17371490,16344560,15067359,14702039,12739008,8889548,20379614 57101 NM_020373,AC006431,AC006560,AC137627,CH471116,AJ272204,AK024010,AL137419,BM710588,BQ025064,DB071682,FJ384095 NP_065106,EAW88819,EAW88820,EAW88821,CAC01125,BAB14773,CAH10704,ACL36050,Q69YW4,Q9NQ90,AAI52769 Hs.148970 C12orf3|DKFZp434P102|TMEM16B anoctamin-2|transmembrane protein 16B (eight membrane-spanning domains) protein-coding 1318896 ANO3 anoctamin 3 1580863 19015192,16344560,15067359,12739008,19553259,20379614 63982 AC021698,AC036114,AC079064,AC083755,CH471064,AJ300461,AK295143,AK295658,AK295816,AK302659,AK304781,AK316018,BQ430769,DA247850,NM_031418,X81896 NP_113606,EAW68296,CAC32454,BAH11989,BAH12144,BAH12191,BAH13772,BAH14255,BAH14389,Q9BYT9,AAI72396 Hs.91791 C11orf25|GENX-3947|TMEM16C anoctamin-3|transmembrane protein 16C (eight membrane-spanning domains) protein-coding 1321043 ANO4 anoctamin 4 14702039,19015192,16344560,15067359,12739008,12477932 121601 AC225709,AC063947,NM_178826,AC079953,AC125628,AC127893,AC138360,CH471054,AI140598,AK091540,AK091591,AK092596,AK293810,AK302962,AK316105,BC109308,DA213819,DA811418,DC325277 NP_849148,EAW97645,EAW97646,EAW97647,BAC03688,BAC03704,BAC03924,BAH11602,BAH13859,BAH14476,AAI09309,Q32M45 Hs.58785 FLJ34221|FLJ34272|FLJ35277|MGC130026|TMEM16D anoctamin-4|transmembrane protein 16D protein-coding 1342534 ANO5 anoctamin 5 19015192,15457408,15124103,15067359,14702039,8889548,21186264,20096397 203859 NM_213599,NM_001142649,AC104009,AC107886,CH471064,AB125267,AK092680,AK125046,AL832374,AL833271,BU742779,N89918,NG_015844 NP_998764,NP_001136121,EAW68325,BAD17859,Q75V66,AAI56326,AAI72489 Hs.154329 GDD1|LGMD2L|TMEM16E anoctamin-5|gnathodiaphyseal dysplasia 1 protein|integral membrane protein GDD1|transmembrane protein 16E protein-coding 1312398 ANO6 anoctamin 6 19015192,15489334,14702039,12477932,7566098,15067359,21107324,20379614 196527 NM_001142679,NM_001025356,NM_001142680,NM_001142678,AC009248,AC009778,AC063924,AA332109,AK095979,AK126409,AK302819,AK303996,AK310641,AL832340,AL833405,BC042383,BC063576,BC073891,BC098410,BC136445,BC136446 NP_001136151,NP_001020527,NP_001136152,NP_001136150,BAG54324,BAG64017,BAG64913,CAD38638,AAH98410,AAI36446,AAI36447,Q4KMQ2 Hs.505339 MGC104751|TMEM16F anoctamin-6|transmembrane protein 16F protein-coding 1351029 ANO7 anoctamin 7 1303974 14981236,19015192,18676855,15761874,15375614,14702039,12477932,12107412,10613842,19495750 1303974 50636 AY617080,BC028162,BC038852,BC047903,CD672346,CR607745,NM_001001891,NM_001001666,AC005237,AC104841,AC111201,AK057322,AY617079 AAT40139,AAT40140,AAH28162,Q6IWH7,Q8N348,AAI56325,AAI57070,NP_001001891,NP_001001666 Hs.163909 D-TMPP|DTMPP|IPCA-5|IPCA5|NGEP|PCANAP5|PCANAP5L|TMEM16G Dresden-transmembrane protein of the prostate|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 protein-coding 1349559 ANO8 anoctamin 8 19015192,15647853,12477932,10997877,16169070 57719 NM_020959,AC010463,CH471106,AB046843,AI860149,BC037307,CR616031 NP_066010,EAW84595,EAW84596,BAB13449,Q9HCE9 Hs.590990 KIAA1623|TMEM16H anoctamin-8|transmembrane protein 16H protein-coding 1345920 ANO9 anoctamin 9 19015192,16344560,15202010,14702039,12477932,9305847,20379614 338440 NM_001012302,AC138230,CH471158,CQ834410,CQ834594,AI986229,AK026923,AK074088,AK096874,AK303642,AK316479,AL832289,BC047946,BC128557,BC144415,DB140066,U33271 NP_001012302,EAX02326,CAH05420,CAH05512,BAB84914,BAG53386,BAG64646,BAH14850,AAI28558,A1A5B4 Hs.501622 PIG5|TMEM16J|TP53I5 anoctamin-9|p53-induced gene 5 protein|transmembrane protein 16J|tumor protein p53 inducible protein 5|tumor protein p53-inducible protein 5 protein-coding 1342993 ANOP1 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) 1679229 289 1606331 ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 16169070,8192856,11729309,11555662,19121999,18439902,18410380,17962813,17557114,17266954,16713569,16344560,16341127,16009334,15895553,15642345,15489334,15247276,15136563,12807913,12565890,12524539,12522243,12477932,11909973,11830591,11360199,11163245,11018049,10400610,10086381,9373149,9353121,9144194,9110174,8970164,8679524,8619474,8530098,8125298,1655467,15308690,17643375,19565487,17142970,19913121,20558741,20628086 8125 CR625412,DA825897,U60823,U73477,X75090,AW383928,AC087639,AC090734,CH471082,AF025684,AK127498,AK223280,AK312703,AY007110,AY349171,BC000608,BC007200,BC064969,BC106719,BC125143,BT007436,CR598445,CR605023,CR606008,NM_006305 AAC50570,AAB39706,CAA52981,P39687,Q08AJ6,Q3KPI8,Q6PKH8,ABM84220,ABM87728,NP_006296,EAW77824,EAW77825,AAB91548,BAD97000,BAG35581,AAQ79832,AAH00608,AAH07200,AAI06720,AAI25144,AAP36104 Hs.458747 C15orf1|I1PP2A|LANP|MAPM|MGC119787|MGC150373|PHAP1|PHAPI|PP32 acidic leucine-rich nuclear phosphoprotein 32 family member A|acidic nuclear phosphoprotein pp32|cerebellar leucine rich acidic nuclear protein|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 731659 ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B 1580863 19130553,18039846,17081983,16094384,15895553,15489334,15164053,12522243,12477932,11729309,11018049,9473664,9373149,9285060,8125298,17643375,20015864,20538007 10541 NM_006401,AL354726,CH471105,AK223454,AK313733,AW296974,BC013003,BC019658,BP395780,CR595726,U70439,Y07569,Y07570,Y07969 NP_006392,CAI15260,CAI15261,EAW58864,EAW58865,BAD97174,BAG36474,AAH13003,AAH19658,AAB37579,CAA68855,CAA68856,CAA69265,Q53F35,Q5T6W8,Q92688 Hs.726054 APRIL|PHAPI2|SSP29 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 2947095 ANP32BP1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1 646791 AC068338,CR616535,NG_022900 Hs.631704 pseudo 2947013 ANP32BP2 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 2 100130708 NG_022880,Z98743 pseudo 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] 15895553,15146458,12524539,11678310,11360199,10471270,10400610,10086381 23520 NM_012403,AC079240,AC105250,AF008216,CH471056 NP_036535,AAY40978,AAD12746,O43423,EAX04832,AAI72312 Hs.661161 PP32R1 acidic leucine-rich nuclear phosphoprotein 32 family member C|phosphoprotein 32-related protein 1|pp32 related 1|tumorigenic protein pp32r1 protein-coding 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] 15895553,15489334,12477932,11678310,11360199,10471270,10400610,10086381 23519 NM_012404,AC089987,CH471111,U71084,BC069122 NP_036536,EAW57983,AAD13667,AAH69122,O95626 Hs.532658 PP32R2 acidic leucine-rich nuclear phosphoprotein 32 family member D|acidic nuclear phosphoprotein 32D|phosphoprotein 32-related protein 2|pp32 related 2|tumorigenic protein pp32r2 protein-coding 1321615 ANP32E acidic (leucine-rich) nuclear phosphoprotein 32 family, member E 1580863 16712791,11256614,16344560,17643375,8889548,16381901,15895553,15635413,15489336,15489334,14702039,12477932,12438741,11230166,11076863,9373149,8125298 81611 AK303333,AK303392,BM974388,CB123292,DA379137,NM_001136478,NM_001136479,NM_030920,AL138795,CH471121,AK025624,AK092672,AK095228,AK223469,AL832664,AL832674,AL833660,AY057381,BC003380,CR596933,CR621754 BAG64397,BAG64448,NP_001129950,NP_001129951,NP_112182,CAI22806,CAI22807,CAI22808,CAI22809,EAW53575,EAW53576,EAW53577,EAW53578,EAW53579,BAC03942,BAC04505,BAD97189,AAL25814,AAH03380,Q53F20,Q5TB20,Q9BTT0,CAL37954 Hs.656466 LANP-L|LANPL|MGC5350 LANP-like protein|OTTHUMP00000037718|acidic leucine-rich nuclear phosphoprotein 32 family member E|leucine-rich acidic nuclear protein like protein-coding 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] 1580863,1581742,1300048,1300284 19236378,15166647,15084671,14767532,14507917,12675232,12634402,12551991,12477932,12473585,12443882,12406907,11999577,11774469,11559807,11384645,11140838,10676659,10605003,9634079,9367365,9056417,8887485,8105105,8102610,7902291,7576235,6149934,2903074,2901990,2428842,1977688,1705556,1675638,10734069,2564851,1350662,15308636,19330903,18794057,18605079,18495788,18431797,18366676,18085638,18008160,17999179,17953966,17897790,17888402,17662271,17655775,17636545,17363739,17363734,17329256,16818694,16778789,16685268,16572171,16533817,16469741,16466852,16335952,16216591,15916720,15883031,15840518,15812828,15758076,15489334,15280478,15234325,18677709,19373777,19562339,19597336,19908113,20064928,20379614,20689807,21048031 1581742,1300284 290 NM_001150,AC018988,AC079075,AF527789,AJ426050,AJ426067,AJ427985,CH471101,M55522,AB209918,AK298134,AK298242,AK298339,AK300946,BC058928,BQ879097,CR595462,M22324,X13276 NP_001141,AAQ09003,CAD19802,CAD19822,CAD20931,EAX02067,EAX02068,AAA83399,BAD93155,BAG60413,BAG60508,BAG60587,BAG62575,AAH58928,AAA51719,CAA31640,P15144,Q59E93,Q71E46,Q8IVL7 Hs.1239 APN|CD13|GP150|LAP1|P150|PEPN AP-M|AP-N|alanyl (membrane) aminopeptidase|alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150)|alanyl aminopeptidase|aminopeptidase M|aminopeptidase N|hAPN|microsomal aminopeptidase|myeloid plasma membrane glycoprotein CD13 protein-coding 1352374 ANTP2 adenine nucleotide translocator pseudogene 2 (clone 7) 2157297 295 1343739 ANTP3 adenine nucleotide translocator pseudogene 3 (clone 13) 2157297 296 1348379 ANTP4 adenine nucleotide translocator pseudogene 4 (clone 9) 2157297 297 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] 15777794,15689409,15489334,14759258,14755251,14702039,12700348,12477932,11709713,11700562,11574549,11559528,10947988,10545197,9373149,8889548,8125298,14507921,16564009,17081983,16762926,16401723,16141341,15993844,19440709,19817382,19834535,20221438,17207965 84168 NM_032208,NM_053034,NM_018153,AC112230,AC114802,CH471053,AF090095,AF279145,AF421380,AK001463,AK002160,AK025429,AK126783,AK223273,AK292113,AK309553,BC012074,BC012475,BU687536,CF126791,CR601167,CR608949,DC360415,DC361072,NG_012649,CS430823 NP_115584,NP_444262,NP_060623,AAX88860,AAY24067,EAW99855,EAW99856,EAW99857,EAW99858,AAK52094,AAL26496,BAA91707,BAB15128,BAD96993,BAF84802,AAH12074,AAH12475,Q508I6,Q508I8,Q53FL1,Q96EC6,Q9H6X2,ACE87706,ACE87019,ADQ31687,CAL60148 Hs.165859 ATR|FLJ10601|FLJ11298|FLJ21776|TEM8 2310008J16Rik|2810405N18Rik|anthrax toxin receptor 1|tumor endothelial marker 8 protein-coding 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] 1599125,1599126,1580863 15044490,16564009,19240061,19191226,16473908,16401723,16344560,15725249,15489334,15337774,15326297,15243628,15231748,15079089,14702039,14508707,12973667,12700348,12551953,12477932,11683410,9847074,20331448,17183731,19858192,20062062,20652271,21041274 1599125,1599126 118429 NM_058172,NM_001145794,AC097711,AC109518,AC114773,CH471057,AB209913,AK023450,AK055636,AL110207,AL831848,AL832851,AY040326,AY233452,BC034001,BC042596,BC047345,BC107876,BC114374,BG235895,BM989747,BQ432519,CR590529,CR601853,CR607683,CR612147,CR617102,DA194583,DA989889,DB280658,NG_015987 NP_477520,NP_001139266,AAY40907,EAX05848,EAX05849,EAX05850,BAD93150,BAB70976,CAI46157,AAK77222,AAP04016,AAH34001,AAI07877,AAI14375,P58335,Q32Q26 Hs.162963,Hs.720941 CMG-2|CMG2|FLJ31074|ISH|JHF|MGC111533|MGC45856 OTTHUMP00000200886|anthrax toxin receptor 2|capillary morphogenesis gene 2 protein|capillary morphogenesis protein 2 protein-coding 1602061 ANTXRL anthrax toxin receptor-like 16344560,15164054,14702039 195977 NR_003601,AL450388,AL603965,AK057316,DB133812 A6NF34 Hs.538515 pseudo 1347960 ANUBL1 AN1, ubiquitin-like, homolog (Xenopus laevis) 1580863 16344560,15489334,15164054,14702039,12477932,16385451,20139978 93550 NM_174890,NM_001128324,AL445201,CH471160,AA813695,AF311324,AK090704,AK097504,AK097924,AK292420,AK292469,AK314395,BC017591,BC045587,BC048968,DB079347,DB454939 Q5VVY6,NP_777550,NP_001121796,CAH72966,CAH72967,CAH72968,CAH72970,EAW86653,EAW86654,EAW86655,EAW86656,AAG33850,BAG52215,BAG53478,BAG53552,BAF85109,BAF85158,BAG37019,AAH45587,AAH48968,Q5VVY2,Q86WR3,Q86XD8 Hs.89029,Hs.721828 FLJ40185|ZFAND4 AN1-type zinc finger and ubiquitin domain-containing protein 1|AN1-type zinc finger protein 4|OTTHUMP00000019507|zinc finger, AN1-type domain 4 protein-coding 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] 2306888,2306896,2306907,2306939,2306898,2306914,2306928,2306942,2306950,2306952,2306954,2306889,2306948,2306920,2306905,2306910,2306891,1599668,734574,1580863,734965,2325722,2325723 18577758,20359522,20562859,20679535,2967291,10908733,10882119,16130169,2936963,19289595,19208747,19204938,19104500,19101730,19076685,18794547,18776816,18706208,18673418,18663355,18652761,18594025,18566442,18297688,18164291,17994624,17971499,17932043,17873281,17681950,17372018,17340616,17317721,17215481,17081983,17023068,17019707,17008549,16984915,16973129,16949910,16899607,16883066,16741918,16675446,16627980,16530434,16460738,16324197,16100712,16014420,15944914,15883023,15592455,15581623,15526283,15489334,15485879,15476183,15447985,15187149,15168732,15157173,15064349,14733945,14633604,14506282,12859969,12679902,12645011,12477932,12236584,12165536,11759108,11574426,11468004,10512675,9915835,9459484,8955167,8587144,8557678,8453382,8425544,3303336,2971450,2969496,2532504,2457390,1832554,1670773,1602151,17353931,20962261,20163912,20353277,20558817,20713499,20872967,20549082,20665809,1374236,17626739,18029348,18396684,19351789,19428102,19596235,19615732,19767728,19850308,20007579,20025479,20061392,20237496,20308542,2138016,19394292,20821804,20970165,19913121,20628086,20398702 2306888,2306896,2306907,2306939,2306898,2306914,2306928,2306942,2306950,2306952,2306954,2306889,2306948,2306920,2306905,2306910,2306891,1599668,734574,734965,2325722,2325723 301 CR592907,CR598206,CR599722,CR600988,CR602892,CR607819,CR608313,CR608352,CR610492,CR618229,CR622273,CR626421,X05908,AL359997,CH471089,U25414,AB451274,AB451401,AK074480,NM_000700,AK296808,BC001275,BC018683,BC034157,BC035993,BT019896,BT019916,BT019917,CR407684 CAA29338,P04083,Q05BR2,Q5T3N0,Q5T3N1,Q5TZZ9,ABM82099,ABM85264,NP_000691,CAI16494,CAI16495,CAI16496,EAW62545,EAW62546,EAW62547,EAW62548,EAW62549,EAW62550,BAG70088,BAG70215,BAG59381,AAH01275,AAH34157,AAH35993,AAV38699,AAV38719,AAV38720,CAG28612 Hs.494173 ANX1|LPC1 OTTHUMP00000021475|annexin A1|annexin I (lipocortin I)|annexin-1|calpactin II|calpactin-2|chromobindin-9|lipocortin I|p35|phospholipase A2 inhibitory protein protein-coding 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] 1580863 16712791,16341674,19582876,10458909,18029348,15489334,12477932,12000734,20664964 11199 BM768053,NM_007193,AC068989,AC095051,CH471056,AF196478,AJ238979,AY626137,BC007320,CB163976 NP_009124,EAX04810,AAF06672,CAB51917,AAT42216,AAH07320,Q6ITU8,Q9UJ72,ABW03531 Hs.188401 ANX14 annexin 14|annexin A10|annexin-10|annexin-14 protein-coding 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. Transcript variants encoding the same isoform have been identified. [provided by RefSeq] 1580863 12577318,7508441,19345290,19165924,18690218,17081065,16189514,15489334,15197175,14702039,12805373,12601007,12477932,12445460,11883939,11013079,10037139,9503022,9373149,9268363,8639854,8125298,1602151,1299619,16169070,20093723,20093729,16385451,18256029,19484149,19724273,9188810,20805159 311 NM_001157,NM_145868,NM_145869,AL356095,AL513174,CH471142,AB209770,AJ278463,AJ278464,AJ278465,AK000567,AK056107,AK126287,AK222918,AK298362,AK300509,AK301047,AL357617,BC007564,BT019934,CR450323,CR591981,CR592506,CR604152,CR606218,CR621013,L19605 NP_001148,NP_665875,NP_665876,CAI40437,CAI40438,CAI40452,CAI13915,CAI13916,CAI13917,EAW80399,EAW80400,EAW80401,EAW80402,EAW80403,EAW80404,EAW80405,BAD93007,CAB94995,CAB94996,CAB94997,BAG51628,BAG54303,BAD96638,BAG60604,BAH13296,BAG62659,AAH07564,AAV38737,CAG29319,AAA19734,P50995,Q59EP1,Q5T0G7,Q5T0G8,Q5T0G9,Q6ICS0,ABM84429,ABM87480 Hs.530291 ANX11|CAP50 56 kDa autoantigen|CAP-50|OTTHUMP00000019957|OTTHUMP00000019958|annexin A11|annexin XI|annexin-11|autoantigen, 56-kD|calcyclin-associated annexin 50 protein-coding 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. 1580863 18029348,20701074,1530946,14718574,11961095,11581287,10871286,10737800,9503022,9373149,12477932,8125298,21046636 312 AC135166,CH471060,AJ306450,AK057781,AK223374,AW296908,AW854063,BC125158,BG823061,CR541838,Z11502,AC011134,NM_004306,NM_001003954,AK290281 EAW92046,EAW92047,EAW92048,CAC34622,BAD97094,AAI25159,CAG46637,CAA77578,P27216,Q53FB5,Q6FHB6,NP_004297,NP_001003954,BAF82970 Hs.181107 ANX13|ISA|MGC150460 annexin A13|annexin XIII|annexin, intestine-specific|annexin-13|intestine-specific annexin protein-coding 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] 2306888,1578382,1580863,1300285,2325731,2325728,2317307 20627396,16289162,16230353,16177123,16100712,15952740,15951569,15944914,15940368,15881658,15849182,15788416,15784727,15635413,15574370,15567461,15554585,15526283,15489334,15471954,15388255,15302870,15257287,15226372,15211578,15070701,15064349,15051937,15009185,14995994,14991775,14702039,14699089,14672933,14613585,14522961,14506282,14504107,13679511,12730231,12699894,12660155,12629510,12628297,12477932,12468550,12045186,11978811,11790298,11781322,11295233,11108961,11106497,10809787,10777578,10512675,10213612,10077593,9515022,9373149,8955167,8898866,8834809,8636985,8449982,8125298,8117306,8110754,7851890,7821789,7518469,7510700,2969496,2946940,2456953,2174397,2148288,1999197,1825830,1602151,1531641,16940516,3013422,7961821,19513064,19325895,19289089,19176991,19020748,19016789,18990701,18924133,18799458,18712570,18636554,18565825,18502476,18494762,18434302,18389276,18384219,18332131,18289715,18262347,18211896,18174463,18164291,18084608,18008140,17999956,17971878,17824845,17709546,17581860,17513451,17441315,17244347,17239928,17081983,17081065,17065584,16989986,16984913,16963080,16882661,16797773,16709165,16643892,16565220,16524621,16501079,16493010,16331566,16526095,9886297,12171929,17353931,17711622,15166316,20947498,20970165,20093721,20093722,20225235,17254974,17626749,19022301,19339807,19380152,19556289,19585213,19605586,19642359,19656851,19724273,19764771,19823170,19885616,19951950,20015551,20018898,20047591,20079732,20121258,20335258,20379614,20540360,2138016,20493868,20847146,19913121,20628086,20702651,20407807,21033036 2306888,1578382,1300285,2325731,2325728,2317307 302 NM_001136015,NM_004039,NM_001002857,AC087385,CH471082,CQ878716,AA661718,AK092006,AK124427,AK222542,AK297923,AK309356,AW087150,BC001388,BC001748,BC009564,BC013843,BC015834,BC016774,BC021114,BC023990,BC052558,BC052567,BC066955,BC068065,BC093056,BT007432,BX640598,CR590378,CR595032,CR595469,NM_001002858,CR596938,CR597222,CR597904,CR598583,CR599823,CR600114,CR608031,CR611402,CR616100,CR616357,CR617962,CR618374,CR618857,CR620533,CR622642,CR622682,CR625736,D00017,D28364 NP_004030,NP_001002858,NP_001129487,NP_001002857,EAW77582,EAW77583,EAW77584,EAW77585,EAW77586,EAW77587,CAH59520,BAG52463,BAG60240,AAH01388,AAH09564,AAH15834,AAH16774,AAH21114,AAH23990,AAH52558,AAH52567,AAH66955,AAH68065,AAH93056,AAP36100,CAE45704,BAA00013,BAA05730,P07355,ABM81934,ABM85113 Hs.511605 ANX2|ANX2L4|CAL1H|LIP2|LPC2|LPC2D|P36|PAP-IV annexin A2|annexin II|annexin-2|calpactin I heavy chain|calpactin I heavy polypeptide|calpactin i heavy chain|calpactin-1 heavy chain|chromobindin 8|chromobindin-8|lipocortin II|placental anticoagulant protein IV|protein I protein-coding 1346050 ANXA2P1 annexin A2 pseudogene 1 2174397,1611909 303 NR_001562,AC013477,M62896 Hs.546235 ANX2L1|ANX2P1|LPC2A pseudo 1347050 ANXA2P2 annexin A2 pseudogene 2 2969496,2174397,19615732 304 NR_003573,NG_001337,AL139008,M62898 A6NMY6 Hs.534301 ANX2L2|ANX2P2|LPC2B pseudo 1344486 ANXA2P3 annexin A2 pseudogene 3 2174397,20339536 305 NR_001446,AC069020,M62895 Hs.591361 ANX2L3|ANX2P3|LIP2|LPC2C pseudo 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] 1580863 17207965,16130169,16236264,16169070,15489334,12665801,12477932,10662590,10391209,8889548,8639653,8626524,8276419,2975506,2968983,2159184,2138632,1830024,17205602,20103635,2138016,7526843,9497492,9550422,20167856 306 NM_005139,M63310,AC104808,CH471057,L20591,AB209868,AK313945,BC000871,BU674495,BX336217,CR407648,CR590148,CR600226,CR601701,CR611294,CR621887,CR622182,M20560 ADQ32626,NP_005130,AAA59496,AAA52284,P12429,Q59EE3,EAX05822,EAX05823,EAX05824,AAA16713,BAD93105,BAG36663,AAH00871,CAG28576 Hs.480042 ANX3 35-alpha calcimedin|Annexin III (lipocortin III)|OTTHUMP00000219237|OTTHUMP00000219238|PAP-III|annexin A3|annexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha)|annexin-3|calcimedin 35-alpha|inositol 1,2-cyclic phosphate 2-phosphohydrolase|lipocortin III|placental anticoagulant protein III protein-coding 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] 1580863 20237821,2970257,16130169,18029348,18164291,17363042,16954445,16687573,16021519,15952740,15489334,15145526,12477932,12324456,10978337,10949146,10883672,10708762,9720986,9084877,8889548,8882729,8798684,8631806,8002935,2975506,2974032,2530088,2254922,2148260,2143074,1346776,19598262,19955935,20379614,2138016,19913121,20628086 307 CR595899,CR602990,CR617262,D78152,M19383,M82809,NM_001153,AC019206,CH471053,AB209457,AK058017,AK293177,AK293396,AK293406,AK303960,AK315511,AY453398,BC000182,BC011659,BC063672,BE886769,BX641114,CB305705,CR407681,AC092431,AC112787 CAG28609,BAA11227,AAC41689,AAA51740,P09525,Q59FK3,Q6LES2,Q6MZI0,Q6P452,ABM83780,ABM87100,NP_001144,AAY14864,EAW99844,BAD92694,BAG56720,BAG56905,BAG56913,BAG64884,BAG37892,AAS47515,AAH00182,AAH11659,AAH63672,CAE46052 Hs.422986 ANX4|DKFZp686H02120|MGC75105|PIG28|ZAP36 35-beta calcimedin|OTTHUMP00000202207|P32.5|PAP-II|PP4-X|annexin A4|annexin IV (placental anticoagulant protein II)|annexin-4|carbohydrate-binding protein p33/p41|chromobindin-4|endonexin I|lipocortin IV|placental anticoagulant protein II|proliferation-inducing gene 28|proliferation-inducing protein 28|protein II|zap 36/annexin iv protein-coding 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] 1578384,1580863,2317541,2317543,2317538,2317542 15489334,15381697,15286043,15280367,15242878,15242332,15173196,14764526,14710359,12871462,12798778,12769841,12732504,12477932,12200370,12102261,11773704,11076863,10903505,10329451,9584197,9435213,9398511,8834809,8495746,8045287,8034319,7958998,7519374,2974032,2968983,2967291,2964863,2963810,2960376,2957692,2532007,2455636,2148156,2147412,1683830,1602151,1397263,1311770,20542876,2967495,8667030,16130169,11256614,19345290,19238444,19234085,19056482,18977990,18951241,18773956,18703851,18462735,18384219,18164291,17893975,17869070,17766279,17681182,17408414,17363042,17339269,17137622,17053060,16916647,16785226,16704958,16670301,16579937,16449315,16389029,16381901,16025836,15952740,15692104,15634283,15526283,15489336,1310621,16169070,20705065,17540176,19372761,19461527,19578796,19639233,19652881,19799864,19810772,19846818,20174767,2138016,20532885,20643388 1578384,2317541,2317543,2317538,2317542 308 AC096730,NM_001154,CH471056,U01681,U01691,U05770,AK297909,AK312644,AY577779,BC001429,BC004993,BC012804,BC012822,BC018671,BC032093,CR536522,CR541842,CR591017,CR593220,CR593484,CR594353,CR594878,CR595133,CR596264,CR596501,CR597782,CR599126,CR599513,CR599687,CR600881,CR602899,CR604610,CR604998,CR607473,CR607543,CR608204,CR608412,CR608923,CR608990,CR609769,CR610575,CR611573,CR611928,CR612257,CR613088,CR613364,CR613615,CR614535,CR615953,CR616516,CR616672,CR616785,CR622055,CR624113,D00172,J03745,M18366,M19384,M21731,X12454,CR596570 NP_001145,AAY40954,EAX05256,EAX05257,EAX05258,EAX05259,EAX05260,AAB40047,AAB60648,BAG60228,BAG35528,AAH01429,AAH04993,AAH12804,AAH12822,AAH18671,CAG38759,CAG46640,BAA00122,AAA52386,AAA35570,AAB59545,AAA36166,CAA30985,P08758,CAL38022,ABM82870,ABW03769,ABW03461 Hs.480653 ANX5|ENX2|PP4 CBP-I|OTTHUMP00000219982|OTTHUMP00000219983|OTTHUMP00000219985|PAP-I|VAC-alpha|anchorin CII|annexin 5|annexin A5|annexin V|annexin-5|calphobindin I|endonexin II|lipocortin V|placental anticoagulant protein 4|placental anticoagulant protein I|thromboplastin inhibitor|vascular anticoagulant-alpha protein-coding 733718 ANXA6 annexin A6 Annexin VI belongs to a family of calcium-dependent membrane and 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. 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. Exon 21 of annexin VI is alternatively spliced, giving rise to two isoforms that differ by a 6-amino acid insertion at the start of the seventh repeat. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. [provided by RefSeq] 1580863 15576473,19345290,18786929,18245088,18164291,17824845,17822395,17081065,16674946,16153422,15489334,15355961,15242332,2139657,1831222,1420329,16169070,14530271,7753047,15226301,14702039,12885247,12534274,12477932,12140262,11696438,10618640,10571081,9883272,9515022,9195978,8834809,8798684,8709144,8146179,7698768,3258820,2963335,2731935,2528541,19322030,19386597,19900398,2138016,20363475 309 NM_001155,AC008641,CH471062,X77673,AK126836,AK130077,AK290672,AK298582,AK303078,BC017046,BQ924484,CR596318,D00510,J03578,Y00097,AI566871,BM904172,DC411634,NM_001193544 NP_001146,EAW61684,EAW61685,EAW61686,EAW61687,BAC86715,BAC85290,BAF83361,BAH12818,BAH13893,AAH17046,BAA00400,AAA35656,CAA68286,P08133,Q6ZP35,ABM82536,ABW03390,NP_001180473 Hs.412117 ANX6|CBP68 67 kDa calelectrin|CPB-II|annexin A6|annexin VI (p68)|annexin-6|calcium-binding protein p68|calelectrin|calphobindin II|calphobindin-II|chromobindin-20|lipocortin VI|p68|p70 protein-coding 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] 2292654,2292656,2292655,734966,1580863 12445460,19602687,18449914,17708571,17112522,17018618,15489334,14519201,12477932,11994295,11839755,11338180,11287641,11278415,10672515,9373149,9268363,8125298,8053909,7738119,7515686,2542947,1825209,1533123,20858460,20093729,20936779,16385451,18256029,20190808 2292654,2292656,2292655,734966 310 NM_001156,NM_004034,AL353731,AL512656,CH471083,AB062429,AK222552,AK295319,AK300086,AK301681,AK307772,AK309141,AK312447,AK313024,AW518993,BC001322,BC002632,BT007187,CR407686,CR590056,CR593533,CR603295,CR611487,CR614618,CR616705,CR616728,CR617521,CR619341,CR623322,CR624692,DC367313,J04543,M64272 NP_001147,NP_004025,CAI52483,CAI52484,CAI52485,CAI15290,CAI15291,EAW54493,EAW54494,BAB93492,BAD96272,BAG58296,BAG61889,BAG63154,BAG35354,BAG35859,AAH02632,AAP35851,CAG28614,AAA36616,P20073,Q53HM8 Hs.631827 ANX7|SNX|SYNEXIN annexin A7|annexin VII|annexin-7 protein-coding 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. 1580863,2325733,2325735 16638567,16344560,16203777,15928709,12477932,11917092,9373149,8045287,8018923,2530088,1364010,1313714 2325733,2325735 244 P13928,Q53FY2,Q5VT78,Q5VT79,Q96H89 NM_001630,AL603965,AK223149,BC008813,CR603162,CR608186,DA698972,X16662 NP_001621,CAH70574,CAH70575,BAD96869,AAH08813,CAA34650,P13928,Q53FY2,Q5VT78,Q5VT79,Q96H89,ABM84356 Hs.651104 ANX8|FLJ32754|VAC beta protein-coding 1354199 ANXA8L1 annexin A8-like 1 728113 NM_001098845,AL391137 NP_001092315,CAI12203,CAI12204,Q5T2P8 Hs.524293 bA301J7.3 annexin A8-like protein 1 protein-coding 1350124 ANXA8L2 annexin A8-like 2 414306 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] 1580863 10899159,12832069,16710414,15489334,15302935,12477932,9931420,9742942,9165068,16169070,20383146 8416 NM_003568,AL590133,CH471121,AF230929,AJ009985,AK314926,BC005830,BJ993162,CR536481 NP_003559,CAI13335,EAW53496,AAG16780,CAA08933,AAH05830,CAG38720,O76027,ABM83945,ABM87263 Hs.727570 ANX31 annexin 31|annexin A9|annexin XXXI|annexin-31|annexin-9|pemphaxin protein-coding 1352932 AOAH acyloxyacyl hydrolase (neutrophil) Acyloxyacyl hydrolase (AOAH) is a 2-subunit lipase which selectively hydrolyzes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial endotoxins. AOAH may modulate host inflammatory responses to gram-negative bacterial invasion. The 2 subunits are encoded by a single mRNA. [provided by RefSeq] 1580863 8089145,8088847,1987068,1883828,16815140,15489334,12477932,9373149,8613354,8125298,15342556,16344560,20237496,20379614,20205591 313 NM_001637,AC083876,AC087069,CH236951,CH471073,AK223476,AK297016,AK298644,AK308215,BC025698,DC314135,M62840,BP310596,CR748867,DA469735,NM_001177506,NM_001177507 NP_001628,EAL23977,EAW94073,BAD97196,BAH12476,BAH12834,AAH25698,AAA35506,P28039,ABM81866,ABM85026,NP_001170977,NP_001170978 Hs.488007 OTTHUMP00000206984|acyloxyacyl hydrolase protein-coding 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] 1580863 9119395,15146197,14585497,9722954,19588076 314 NM_009590,NM_001158,AB012943,AC016889,CH471152,DQ060035,AF081363,BC142641,CA425343,CN355968,D88213 NP_033720,NP_001149,BAA32589,BAA32590,EAW60895,EAW60896,AAY43129,AAD39345,AAI42642,BAA19001,O75106 Hs.143102 DAO2|RAO SSAO|retina-specific copper amine oxidase|semicarbazide-sensitive amine oxidase protein-coding 1347849 AOC3 amine oxidase, copper containing 3 (vascular adhesion protein 1) Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The product is a major protein on the adipocyte plasma membrane. It has adhesive properties and also has functional monoamine oxidase activity. A pseudogene for this gene has been discribed and is located approximately 9-kb downstream. [provided by RefSeq] 2313821,2313823,2313824,2313825,2313919,2313912,2313915,2313925,2313928,2313820,2313822,2313908,2313827,2313914,2313916,2313819,2313826,2313828,1580863 16335952,16046623,15919838,15830186,15489334,15242332,15057044,14755492,14726375,14715500,14585497,12700900,12477932,12466139,12097405,9110174,8619474,1375396,9653080,8972912,18029348,19361461,18991279,18644360,18005095,17490641,17431736,17400359,17393062,17393059,17256751,17006978,16806498,16556889,16511016,16507887,16361866,18853098,19336232,19761765,19789505,19861682,20063021,20512991 2313821,2313823,2313824,2313825,2313919,2313912,2313915,2313925,2313928,2313820,2313822,2313908,2313827,2313914,2313916,2313819,2313826,2313828 8639 AF054985,AF067406,AK025727,AK315129,BC036368,BC050549,CR593009,U39447,NM_003734,AB050502,AC016889,CH471152,DQ143944 AAC09346,AAC25170,BAG37582,AAH50549,AAC50919,Q16853,Q9UEU7,NP_003725,BAB18866,EAW60897,AAZ38716 Hs.198241 HPAO|SSAO|VAP-1|VAP1 copper amine oxidase|membrane primary amine oxidase|semicarbazide-sensitive amine oxidase|vascular adhesion protein 1 protein-coding 1321760 AOF1 amine oxidase (flavin containing) domain 1 16344560,15489334,14702039,14574404,12477932,7566098,19407342,19615732,19727073,20670891,19815555 221656 NM_153042,AL031774,AL589723,CH471087,AA332652,AJ420481,AK091217,AK125318,BC113093,CR627410,DA099422 NP_694587,EAW55400,EAW55401,BAC03612,BAC86124,AAI13094,CAH10499,Q08EI0,Q8NB78,CAM14159 Hs.709336 AOF1|C6orf193|DKFZp686I0412|FLJ33898|FLJ34109|FLJ43328|LSD2|bA204B7.3|dJ298J15.2 OTTHUMP00000179125|amine oxidase (flavin containing) domain 1|amine oxidase, flavin containing 1|flavin-containing amine oxidase domain-containing protein 1|lysine-specific histone demethylase 1B|lysine-specific histone demethylase 2 protein-coding 1343174 AOM arthroophthalmopathy, progressive (Stickler syndrome) 315 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] 734575,1300048,1580863 17992631,12477932,11302742,8889548,8043023,7570184,8248161,12054535,19500084,19741035,19898482,20379614,20800603,16712791 734575 316 HB736499,NM_001159,AC007163,AC080164,AF010260,AF017060,CH471063,AB046692,AK297930,AK301052,AK307738,AL079797,BC117179,BC117181,BM681054,CB153864,L11005,FB789700,FB794625,FB798872,FB811643,FB848178,FB866440,FB885306,FB890693,FB896453,GN364811,HB659759,HB664684,HB668931,HB681702,HB718237,HB755365,HB760752,HB766512 CBC62201,NP_001150,AAX93285,AAY24265,AAB83968,AAB83966,EAW70208,EAW70209,BAB40305,BAG60247,BAG62663,AAI17180,AAI17182,AAA96650,Q06278,Q9BYF0,CAW36666,CAW39000,CAW41181,CAW47197,CAW63617,CAW71847,CAW80339,CAW82831,CAW86206,CAY77140,CBC02619,CBC04872,CBC06832,CBC12951,CBC45781,CBC79136,CBC84084,CBC89038 Hs.406238 AO|AOH1 aldehyde oxidase protein-coding 1603491 AOX2P aldehyde oxidase 2 pseudogene 11562361,8889549,20210993,16344560,20800603 344454 NR_001557,AC007163,AY245868,DB346520 Hs.148269 AOH2|AOX2 pseudo 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. Two transcript variants encoding different isoforms have been found for this gene, and variants utilizing alternative polyadenylation signals exist. [provided by RefSeq] 734576,1580863 9733768,7987321,15569716,15862967,15752756,15461802,15231748,15063762,12477932,12419313,12070169,11926829,11451993,11409905,11106728,10966473,10931822,10535737,10097102,9707615,8812422,16253302,15681409,12486136,12836198,11463741,9811611,9811606,9736718,11877451,10608806,16009131,18614564,10737800,11031247,11252894,11694590,12429846,16344560,17290217,20009918,7593184,8975699,9280305 734576 162 BC046242,BM909530,BX537680,CR626722,CT841508,L13939,NM_145730,NM_001127,AC002059,CH471095,U36267,U36268,AI084003,AK294406,AK296567,AK299613,AU139022,BG999878,CD364485,NM_001166019,Y07848,HB900728,HC958137 AAH46242,CAD97809,CAJ86438,AAC98702,Q10567,Q7Z3M8,Q86X54,CAK54367,CAK54666,NP_663782,NP_001118,EAW59798,EAW59799,EAW59800,AAC50684,BAG57658,BAG59187,BAG61541,NP_001159491,CBF79614,CBU99115 Hs.368794 ADTB1|AP105A|BAM22|CLAPB2 AP-1 complex subunit beta-1|Golgi adaptor HA1/AP1 adaptin beta subunit|OTTHUMP00000199165|OTTHUMP00000199168|adapter-related protein complex 1 subunit beta-1|adaptor protein complex AP-1 subunit beta-1|beta-1-adaptin|beta-adaptin 1|beta-prime-adaptin|beta1-adaptin|clathrin assembly protein complex 1 beta large chain|plasma membrane adaptor HA2/AP2 adaptor beta subunit protein-coding 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. 1580863 12505986,12498786,12477932,12429846,12042876,11950833,11926829,11872161,11451993,11418592,11409905,11331585,11106728,10814529,10747088,10535737,10477754,9373149,8125298,11222723,9882340,16253302,15681409,12486136,15469849,9653655,9733768,12536145,15569716,16867982,15775984,15143060,14702039,14665628,12773381,11031247,11252894,11694590,20379614,7593184,16162817,19841138 164 NM_001128,NM_001030007,AC009097,AC010653,AJ224112,AJ224113,AJ224114,CH471166,AB015317,AK025020,AK055122,AK128078,AK225906,AK314484,AL110198,BC003414,BC036283,BC051747,BU902252,CR590518,Y12226,AK293233,AK294546,AK299630 NP_001119,NP_001025178,CAA11832,EAW59222,EAW59223,EAW59224,BAA33389,BAG51473,BAG54627,CAB53673,AAH03414,AAH36283,CAA72902,O43747,Q8IY97,Q9BTR5,ACE87658,ACE86968,BAG56772,BAG57752,BAG61558 Hs.461253 ADTG|CLAPG1|MGC18255 AP-1 complex subunit gamma-1|adapter-related protein complex 1 subunit gamma-1|adaptor protein complex AP-1 subunit gamma-1|clathrin assembly protein complex 1 gamma large chain|clathrin assembly protein complex 1 gamma-1 large chain|clathrin-associated/assembly/adaptor protein, large, gamma 1|gamma adaptin|gamma1-adaptin|golgi adaptor HA1/AP1 adaptin gamma subunit|golgi adaptor HA1/AP1 adaptin subunit gamma-1 protein-coding 1313902 AP1G2 adaptor-related protein complex 1, gamma 2 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is compsed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. There are two alternatively spliced transcript variants of this gene encoding the same protein. [provided by RefSeq] 1580863 20708039,12505986,15231747,9733768,9762922,18029348,18772139,17553870,14702039,14665628,12477932,10477754,11222723,9882340,16253302,15681409,12486136,12836198,11463741,9811611,9811606,9736718,10814529,11333915 8906 NM_003917,NG_011937,AL135999,CH471078,AB015318,AF068706,AK096034,AK123354,AK226158,AK304682,AK307696,AK309103,AK310451,BC051833,BX161425,BX247963,CR594047,CR600746,CR610219,CR613895,CR614596 NP_003908,EAW66132,EAW66134,EAW66138,BAA33390,AAC67390,BAG65453,AAH51833,CAD61898,CAD62302,O75843,Q86U03,Q86V28 Hs.343244 G2AD AP-1 complex subunit gamma-like 2|OTTHUMP00000164600|clathrin-associated/assembly/adaptor protein, large, gamma-2|gamma2-adaptin protein-coding 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] 1580863 14691137,15569716,18057255,17988225,16189514,15489334,15182197,14702039,14608369,20833140,12477932,9812899,9653655,8889548,8810314,7593184,7569928,11222723,9882340,9400603,16253302,11208076,9314527,9052838,9586638,9564030,15681409,12836198,12486136,11463741,9811611,9811606,9736718,12010461,11598115,11591131,11583591,11247301,11157985,11106728,10887964,10809756,10535737,11031247,11252894,11694590,15254094,19060904,19841138 8907 AB209808,AF290613,AK027528,AK297824,BC017469,BQ014582,BU729646,CR613573,CR615625,CR619890,CR623912,DC386056,DQ059565,AK293188,CH471106,NM_001130524,NM_032493,AC020911 EAW84540,BAD93045,AAK28024,BAG56728,BAG60161,AAH17469,AAY54246,Q4TTY5,Q59EK3,Q9BXS5,EAW84539,BAG51337,NP_001123996,NP_115882 Hs.71040 AP47|CLAPM2|CLTNM|MU-1A AP-1 complex subunit mu-1|AP-mu chain family member mu1A|HA1 47 kDa subunit|adaptor protein complex AP-1 mu-1 subunit|adaptor-related protein complex 1 mu-1 subunit|clathrin adaptor protein AP47|clathrin assembly protein complex 1 medium chain 1|clathrin assembly protein complex 1, medium chain|clathrin assembly protein complex AP1, mu subunit|clathrin coat assembly protein AP47|clathrin coat-associated protein AP47|golgi adaptor AP-1 47 kDa protein|golgi adaptor HA1/AP1 adaptin mu-1 subunit|mu-adaptin 1|mu1A-adaptin protein-coding 1354372 AP1M2 adaptor-related protein complex 1, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. [provided by RefSeq] 1580863 11031247,11252894,11694590,17381423,17220478,10338135,15569716,18356317,17261850,17145811,16343431,15489334,14702039,12477932,12134076,12086608,12010461,11573956,11157985,10887964,10640811,10535737,9794796,9714795,9373149,8810314,8125298,7569928,11222723,9882340,16189514,15182197,21048031,17207965 10053 NM_005498,AC011475,CH471106,AF020797,AK023863,AK222946,AK315689,BC003387,BC003612,BC005021,BE044092,CR596228,CR615885 NP_005489,EAW84124,EAW84125,AAD25870,BAD96666,BAG38052,AAH03387,AAH03612,AAH05021,Q53GI5,Q9Y6Q5,BAG51230,ADQ31755 Hs.18894 AP1-mu2|HSMU1B|MU-1B|MU1B|mu2 AP-1 complex subunit mu-2|AP-mu chain family member mu1B|HA1 47 kDa subunit 2|adaptor protein complex AP-1 mu-2 subunit|adaptor-related protein complex 1 mu-2 subunit|clathrin assembly protein complex 1 medium chain 2|clathrin coat assembly protein AP47 2|clathrin coat associated protein AP47 2|clathrin-associated adaptor medium chain mu2|golgi adaptor AP-1 47 kDa protein|golgi adaptor HA1/AP1 adaptin mu-2 subunit|mu-adaptin 2|mu1B-adaptin protein-coding 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] 15469849,9733768,15569716,19057675,15489334,12853948,12477932,12215646,11707398,10966473,10535737,9847074,9653655,2040623,11222723,9882340,16253302,15681409,12486136,12836198,11463741,9811611,9811606,9736718,7593184,17353931,11031247,11252894,11694590,16548883 1174 NM_001283,AC004876,CH471197,AB015319,AK312151,BC003561,BI597121,BI598615,BI857465,BT006779,CR592205,CR599373,CR601876,CR608060 NP_001274,AAD45829,EAW50198,EAW50199,EAW50200,BAA33391,BAG35085,AAH03561,AAP35425,P61966 Hs.489365 AP19|CLAPS1|FLJ92436|SIGMA1A|WUGSC:H_DJ0747G18.2 AP-1 complex subunit sigma-1A|HA1 19 kDa subunit|OTTHUMP00000211468|OTTHUMP000